hgnc_id
string | symbol
string | name
string | locus_group
string | locus_type
string | status
string | location
string | alias_symbol
sequence | alias_name
sequence | prev_symbol
sequence | prev_name
sequence | gene_group
sequence | gene_group_id
sequence | date_approved_reserved
string | date_symbol_changed
string | date_name_changed
string | date_modified
string | entrez_id
string | ensembl_gene_id
string | vega_id
string | ucsc_id
string | ena
sequence | refseq_accession
sequence | ccds_id
sequence | uniprot_ids
sequence | pubmed_id
sequence | mgd_id
sequence | rgd_id
sequence | lsdb
sequence | cosmic
string | omim_id
sequence | bioparadigms_slc
string | orphanet
float64 | merops
string | iuphar
string | cd
string | enzyme_id
sequence | agr
string | mane_select
sequence | gencc
string | uuid
string | rna_central_id
sequence | curator_notes
sequence |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
HGNC:9141 | PMVK | phosphomevalonate kinase | protein-coding gene | gene with protein product | Approved | 1q21.3 | [
"PMK",
"PMKA",
"HUMPMKI"
] | null | null | null | null | null | 1999-07-09 | null | null | 2023-01-20 | 10654 | ENSG00000163344 | OTTHUMG00000037415 | uc001ffq.4 | [
"L77213"
] | [
"NM_006556"
] | [
"CCDS1073"
] | [
"Q15126"
] | [
8663599,
10191291
] | [
"MGI:1915853"
] | [
"RGD:1310812"
] | null | null | [
"607622"
] | null | 444,563 | null | objectId:641 | null | [
"2.7.4.2"
] | HGNC:9141 | [
"ENST00000368467.4",
"NM_006556.4"
] | HGNC:9141 | abf4ee40-08d2-404d-9534-b17040e821b6 | null | null |
HGNC:21484 | MCM9 | minichromosome maintenance 9 homologous recombination repair factor | protein-coding gene | gene with protein product | Approved | 6q22.31 | [
"MGC35304",
"dJ329L24.3",
"FLJ20170"
] | null | [
"MCMDC1",
"C6orf61"
] | [
"minichromosome maintenance deficient domain containing 1",
"chromosome 6 open reading frame 61",
"minichromosome maintenance complex component 9"
] | [
"MCM family"
] | [
1085
] | 2003-06-18 | 2007-04-04 | 2015-08-25 | 2023-01-20 | 254394 | ENSG00000111877 | OTTHUMG00000015468 | uc063qzj.1 | [
"BC031658"
] | [
"NM_153255"
] | [
"CCDS5121",
"CCDS56447"
] | [
"Q9NXL9"
] | [
16226853,
15850810,
16495042
] | [
"MGI:1918817"
] | [
"RGD:1560557"
] | null | null | [
"610098"
] | null | 448,630 | null | null | null | null | HGNC:21484 | [
"ENST00000619706.5",
"NM_017696.3"
] | HGNC:21484 | ceb20fe9-9be6-416f-8fea-db98887324ca | null | null |
HGNC:15861 | DHX35 | DEAH-box helicase 35 | protein-coding gene | gene with protein product | Approved | 20q11.23-q12 | [
"FLJ22759",
"KAIA0875"
] | null | [
"C20orf15",
"DDX35"
] | [
"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 35",
"DEAH (Asp-Glu-Ala-His) box polypeptide 35"
] | [
"DEAH-box helicases",
"Spliceosomal C complex"
] | [
500,
1510
] | 2001-11-27 | 2003-06-13 | 2016-01-07 | 2023-01-20 | 60625 | ENSG00000101452 | OTTHUMG00000032463 | uc002xjh.4 | [
"AK026412"
] | [
"NM_021931"
] | [
"CCDS13310",
"CCDS54463"
] | [
"Q9H5Z1"
] | null | [
"MGI:1918965"
] | [
"RGD:1311165"
] | null | null | null | null | null | null | null | null | null | HGNC:15861 | [
"ENST00000252011.8",
"NM_021931.4"
] | null | 4dd0f447-2041-4808-9cb8-6f47551572df | null | null |
HGNC:6201 | JTB | jumping translocation breakpoint | protein-coding gene | gene with protein product | Approved | 1q21.3 | [
"hJT",
"PAR"
] | [
"prostate androgen-regulated gene"
] | null | null | null | null | 2000-01-31 | null | null | 2023-01-20 | 10899 | ENSG00000143543 | OTTHUMG00000036590 | uc001fds.4 | [
"AB016488"
] | [
"NM_006694"
] | [
"CCDS1057"
] | [
"O76095"
] | [
10321732,
27751357,
22079049
] | [
"MGI:1346082"
] | [
"RGD:2942"
] | null | null | [
"604671"
] | null | null | null | null | null | null | HGNC:6201 | [
"ENST00000271843.9",
"NM_006694.4"
] | null | 50fb9258-a49a-45dc-9fee-622e37c71fbb | null | null |
HGNC:9571 | PSMF1 | proteasome inhibitor subunit 1 | protein-coding gene | gene with protein product | Approved | 20p13 | [
"PI31"
] | [
"proteasome inhibitor hP131 subunit"
] | null | [
"proteasome (prosome, macropain) inhibitor subunit 1 (PI31)"
] | [
"Proteasome"
] | [
690
] | 1999-04-15 | null | 2015-08-12 | 2023-01-20 | 9491 | ENSG00000125818 | OTTHUMG00000031656 | uc002wel.4 | [
"D88378"
] | [
"NM_178578"
] | [
"CCDS13010",
"CCDS82589"
] | [
"Q92530"
] | [
10363639
] | [
"MGI:1346072"
] | [
"RGD:1587528"
] | null | null | [
"617858"
] | null | null | null | null | null | null | HGNC:9571 | [
"ENST00000335877.11",
"NM_006814.5"
] | null | c7ea0693-4dfd-4564-b3d1-a0883f4ad5ac | null | null |
HGNC:23990 | STAC2 | SH3 and cysteine rich domain 2 | protein-coding gene | gene with protein product | Approved | 17q12 | [
"24b2"
] | null | null | null | [
"SH3 and cysteine rich domain family"
] | [
2308
] | 2004-05-19 | null | null | 2024-01-17 | 342667 | ENSG00000141750 | OTTHUMG00000179039 | uc002hrs.4 | [
"AJ608762"
] | [
"NM_198993"
] | [
"CCDS11335"
] | [
"Q6ZMT1"
] | [
25548159,
29363593
] | [
"MGI:2144518"
] | [
"RGD:1305548"
] | null | null | null | null | null | null | null | null | null | HGNC:23990 | [
"ENST00000333461.6",
"NM_198993.5"
] | null | 8206483b-f2b4-41b4-af32-6d5f05cd38e4 | null | null |
HGNC:10683 | SDHD | succinate dehydrogenase complex subunit D | protein-coding gene | gene with protein product | Approved | 11q23.1 | [
"cybS"
] | [
"small subunit of cytochrome b"
] | [
"PGL",
"PGL1"
] | [
"succinate dehydrogenase complex, subunit D, integral membrane protein"
] | [
"Mitochondrial complex II: succinate dehydrogenase subunits"
] | [
641
] | 1997-10-21 | null | 2016-01-28 | 2023-01-20 | 6392 | ENSG00000204370 | OTTHUMG00000166997 | uc001pmz.5 | [
"AB006202"
] | [
"NM_003002"
] | null | [
"O14521"
] | [
9533030,
1301144
] | [
"MGI:1914175"
] | [
"RGD:735231"
] | [
"SDHD @ LOVD|http://www.LOVD.nl/SDHD",
"Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SDHD",
"LRG_9|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_9.xml"
] | SDHD | [
"602690"
] | null | 118,561 | null | null | null | null | HGNC:10683 | [
"ENST00000375549.8",
"NM_003002.4"
] | HGNC:10683 | a047a819-acfa-4406-8689-ec43b4fd19a1 | null | null |
HGNC:12563 | UMPS | uridine monophosphate synthetase | protein-coding gene | gene with protein product | Approved | 3q21.2 | null | [
"orotate phosphoribosyl transferase and orotidine-5'-decarboxylase"
] | null | null | [
"MicroRNA protein coding host genes"
] | [
1691
] | 1986-01-01 | null | 2008-02-04 | 2023-01-20 | 7372 | ENSG00000114491 | OTTHUMG00000159431 | uc003ehl.5 | null | [
"NM_000373"
] | [
"CCDS3029"
] | [
"P11172"
] | [
2767686
] | [
"MGI:1298388"
] | [
"RGD:1311908"
] | null | null | [
"613891"
] | null | 120,414 | null | null | null | [
"2.4.2.10",
"4.1.1.23"
] | HGNC:12563 | [
"ENST00000232607.7",
"NM_000373.4"
] | HGNC:12563 | a5555112-cf2f-42ea-bf1a-9c01029b96ae | null | null |
HGNC:3582 | FANCA | FA complementation group A | protein-coding gene | gene with protein product | Approved | 16q24.3 | [
"FAA",
"FA-H",
"FAH"
] | null | [
"FACA",
"FANCH"
] | [
"Fanconi anemia complementation group A"
] | [
"FA complementation groups",
"FA core complex"
] | [
548,
1751
] | 1995-12-22 | null | 2018-05-09 | 2023-01-20 | 2175 | ENSG00000187741 | OTTHUMG00000173049 | uc002fou.2 | [
"Z83067"
] | [
"NM_000135"
] | null | [
"O15360"
] | [
7581462,
9382107
] | [
"MGI:1341823"
] | [
"RGD:1311380"
] | [
"Fanconi Anaemia Mutation Database|http://www2.rockefeller.edu/fanconi/",
"Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/FANCA",
"LRG_495|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_495.xml"
] | FANCA | [
"607139"
] | null | 121,693 | null | null | null | null | HGNC:3582 | [
"ENST00000389301.8",
"NM_000135.4"
] | HGNC:3582 | 6f7047de-b0cd-436c-9518-cf587cd5095e | null | null |
HGNC:8988 | PIN1 | peptidylprolyl cis/trans isomerase, NIMA-interacting 1 | protein-coding gene | gene with protein product | Approved | 19p13 | [
"dod"
] | [
"protein interacting with never in mitosis A1",
"parvulin PIN1"
] | null | [
"protein (peptidyl-prolyl cis/trans isomerase) NIMA-interacting 1"
] | [
"Parvulins"
] | [
920
] | 1996-12-16 | null | 2008-03-25 | 2023-01-20 | 5300 | ENSG00000127445 | OTTHUMG00000180388 | uc002mml.3 | null | [
"NM_006221"
] | [
"CCDS12220"
] | [
"Q13526"
] | [
8606777
] | [
"MGI:1346036"
] | [
"RGD:1310299"
] | [
"LRG_847|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_847.xml"
] | null | [
"601052"
] | null | null | null | objectId:3171 | null | null | HGNC:8988 | [
"ENST00000247970.9",
"NM_006221.4"
] | null | 0ce903c5-b19b-459a-a14a-0c3ec9d9a303 | null | null |
HGNC:6743 | CAPRIN1 | cell cycle associated protein 1 | protein-coding gene | gene with protein product | Approved | 11p13 | [
"caprin-1",
"RNG105"
] | [
"cytoplasmic activation/proliferation-associated protein-1"
] | [
"M11S1",
"GPIAP1"
] | [
"membrane component, chromosome 11, surface marker 1",
"GPI-anchored membrane protein 1"
] | null | null | 1995-12-18 | 2007-03-27 | 2007-03-27 | 2023-01-20 | 4076 | ENSG00000135387 | OTTHUMG00000166248 | uc001mvh.2 | [
"BC001731"
] | [
"NM_005898"
] | [
"CCDS31453",
"CCDS31454"
] | [
"Q14444"
] | [
7657653,
16177067,
17210633,
14764709,
15471883
] | [
"MGI:1858234"
] | [
"RGD:1305707"
] | null | null | [
"601178"
] | null | null | null | null | null | null | HGNC:6743 | [
"ENST00000341394.9",
"NM_005898.5"
] | HGNC:6743 | 02292dd6-ce1e-4cb2-81e0-fdad6935531a | null | null |
HGNC:25682 | FAM106A | family with sequence similarity 106 member A | non-coding RNA | RNA, long non-coding | Approved | 17p11.2 | [
"FLJ11800"
] | null | null | [
"family with sequence similarity 106, member A"
] | [
"Long non-coding RNAs with FAM root symbol"
] | [
1993
] | 2006-01-12 | null | 2015-11-18 | 2023-03-15 | 80039 | ENSG00000273018 | OTTHUMG00000179516 | uc002gtz.3 | [
"AK021862"
] | [
"NR_170998"
] | null | [
"Q4KMX7"
] | [
14702039
] | null | null | null | null | null | null | null | null | null | null | null | HGNC:25682 | null | null | c060d96f-1677-4d6f-bce6-842d9b23ee49 | [
"URS000075F0DD"
] | null |
HGNC:9884 | RB1 | RB transcriptional corepressor 1 | protein-coding gene | gene with protein product | Approved | 13q14.2 | [
"RB",
"PPP1R130"
] | [
"prepro-retinoblastoma-associated protein",
"protein phosphatase 1, regulatory subunit 130"
] | [
"OSRC"
] | [
"osteosarcoma",
"retinoblastoma 1"
] | [
"Receptor ligands"
] | [
542
] | 1986-01-01 | null | 2016-05-24 | 2023-01-20 | 5925 | ENSG00000139687 | OTTHUMG00000016900 | uc001vcb.4 | [
"M15400"
] | [
"NM_000321"
] | [
"CCDS31973"
] | [
"P06400"
] | [
1857421,
15057823
] | [
"MGI:97874"
] | [
"RGD:3540"
] | [
"RB1-LSDB|http://rb1-lovd.d-lohmann.de/home.php?select_db=RB1",
"LRG_517|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_517.xml"
] | RB1 | [
"614041"
] | null | 118,239 | null | ligandId:5253 | null | null | HGNC:9884 | [
"ENST00000267163.6",
"NM_000321.3"
] | HGNC:9884 | 6303f2b5-2189-41b4-9ea1-7788d53ddf76 | null | null |
HGNC:19701 | CNKSR2 | connector enhancer of kinase suppressor of Ras 2 | protein-coding gene | gene with protein product | Approved | Xp22.12 | [
"KIAA0902",
"CNK2",
"KSR2"
] | null | null | null | [
"Pleckstrin homology domain containing",
"Sterile alpha motif domain containing",
"PDZ domain containing"
] | [
682,
760,
1220
] | 2004-05-27 | null | null | 2023-01-20 | 22866 | ENSG00000149970 | OTTHUMG00000021233 | uc011mjo.3 | [
"AB020709"
] | [
"NM_014927"
] | null | [
"Q8WXI2"
] | null | [
"MGI:2661175"
] | [
"RGD:708454"
] | [
"Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CNKSR2"
] | null | [
"300724"
] | null | 449,961 | null | null | null | null | HGNC:19701 | [
"ENST00000379510.5",
"NM_014927.5"
] | HGNC:19701 | ede2a473-6529-4e99-b519-9a0547dc59f8 | null | null |
HGNC:7224 | MPV17 | mitochondrial inner membrane protein MPV17 | protein-coding gene | gene with protein product | Approved | 2p23.3 | [
"SYM1"
] | [
"glomerulosclerosis"
] | null | [
"MpV17 transgene, murine homolog, glomerulosclerosis"
] | null | null | 1994-03-21 | null | 2018-08-15 | 2023-01-20 | 4358 | ENSG00000115204 | OTTHUMG00000097074 | uc002rjs.4 | null | [
"NM_002437"
] | [
"CCDS1748"
] | [
"P39210"
] | [
8281143,
16582910
] | [
"MGI:97138"
] | [
"RGD:1310512"
] | null | null | [
"137960"
] | null | 123,470 | null | null | null | null | HGNC:7224 | [
"ENST00000380044.6",
"NM_002437.5"
] | HGNC:7224 | eea097c8-474e-469e-ac92-fdf610015849 | null | null |
HGNC:25981 | TOR4A | torsin family 4 member A | protein-coding gene | gene with protein product | Approved | 9q34.3 | [
"FLJ20245"
] | null | [
"C9orf167"
] | [
"chromosome 9 open reading frame 167",
"torsin family 4, member A"
] | [
"Torsins"
] | [
1831
] | 2007-02-08 | 2012-04-03 | 2016-01-25 | 2023-01-20 | 54863 | ENSG00000198113 | OTTHUMG00000131779 | uc004cmn.4 | [
"AK023361"
] | [
"NM_017723"
] | [
"CCDS7041"
] | [
"Q9NXH8"
] | null | [
"MGI:2442720"
] | [
"RGD:1308019"
] | null | null | null | null | null | null | null | null | null | HGNC:25981 | [
"ENST00000357503.3",
"NM_017723.3"
] | null | e46a6c88-929d-4ef8-96f3-940d85a2fd1c | null | null |
HGNC:22474 | MED13 | mediator complex subunit 13 | protein-coding gene | gene with protein product | Approved | 17q23.2 | [
"KIAA0593",
"TRAP240"
] | null | [
"THRAP1"
] | [
"thyroid hormone receptor associated protein 1"
] | [
"Mediator complex"
] | [
1061
] | 2004-03-10 | 2007-07-30 | 2007-07-30 | 2023-01-20 | 9969 | ENSG00000108510 | OTTHUMG00000179251 | uc002izo.3 | [
"AB011165"
] | [
"NM_005121"
] | [
"CCDS42366"
] | [
"Q9UHV7"
] | [
1019863
] | [
"MGI:3029632"
] | [
"RGD:1304829"
] | null | null | [
"603808"
] | null | null | null | null | null | null | HGNC:22474 | [
"ENST00000397786.7",
"NM_005121.3"
] | HGNC:22474 | aec2aebf-e016-4ddc-a4fb-c38268681610 | null | null |
HGNC:10839 | SHBG | sex hormone binding globulin | protein-coding gene | gene with protein product | Approved | 17p13.1 | [
"ABP",
"TEBG",
"MGC126834",
"MGC138391"
] | [
"androgen binding protein"
] | null | [
"sex hormone-binding globulin"
] | null | null | 1990-03-14 | null | 2016-04-04 | 2023-01-20 | 6462 | ENSG00000129214 | OTTHUMG00000108153 | uc002gie.4 | null | [
"NM_001040"
] | null | [
"P04278"
] | [
2587256
] | [
"MGI:98295"
] | [
"RGD:3671"
] | null | null | [
"182205"
] | null | null | null | null | null | null | HGNC:10839 | [
"ENST00000380450.9",
"NM_001040.5"
] | null | 33acc57a-71c4-4856-bdbc-f13781b2e547 | null | null |
HGNC:29666 | MTFMT | mitochondrial methionyl-tRNA formyltransferase | protein-coding gene | gene with protein product | Approved | 15q22.31 | [
"FMT1"
] | null | null | null | null | null | 2005-07-19 | 2005-08-09 | null | 2023-01-20 | 123263 | ENSG00000103707 | OTTHUMG00000172371 | uc002aof.5 | [
"AK055688"
] | [
"NM_139242"
] | [
"CCDS45280"
] | [
"Q96DP5"
] | [
9614118
] | [
"MGI:1916856"
] | [
"RGD:1309462"
] | null | null | [
"611766"
] | null | 299,657 | null | null | null | [
"2.1.2.9"
] | HGNC:29666 | [
"ENST00000220058.9",
"NM_139242.4"
] | HGNC:29666 | 69b4a5b8-b3ea-4f71-a6f5-53eeb38a6f03 | null | null |
HGNC:11999 | TP53BP1 | tumor protein p53 binding protein 1 | protein-coding gene | gene with protein product | Approved | 15q15.3 | [
"53BP1",
"p202",
"TDRD30"
] | null | null | [
"tumor protein p53-binding protein, 1"
] | [
"Tudor domain containing"
] | [
780
] | 2000-06-24 | null | 2007-08-02 | 2023-01-20 | 7158 | ENSG00000067369 | OTTHUMG00000059757 | uc001zrs.4 | [
"U09477"
] | [
"NM_001141979"
] | null | [
"Q12888"
] | [
8016121,
9748285
] | [
"MGI:1351320"
] | [
"RGD:1308039"
] | null | null | [
"605230"
] | null | null | null | null | null | null | HGNC:11999 | [
"ENST00000382044.9",
"NM_001141980.3"
] | null | a38d2322-3b58-4248-9f67-eae077c94ab7 | null | null |
HGNC:3587 | FANCF | FA complementation group F | protein-coding gene | gene with protein product | Approved | 11p14.3 | [
"FAF"
] | null | null | [
"Fanconi anemia complementation group F"
] | [
"FA complementation groups",
"FA core complex"
] | [
548,
1751
] | 1998-08-26 | null | 2018-05-09 | 2023-01-20 | 2188 | ENSG00000183161 | OTTHUMG00000166070 | uc001mql.2 | null | [
"NM_022725"
] | [
"CCDS7857"
] | [
"Q9NPI8"
] | [
9382107
] | [
"MGI:3689889"
] | [
"RGD:1561456"
] | [
"Fanconi Anaemia Mutation Database|http://www2.rockefeller.edu/fanconi/",
"Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/FANCF",
"LRG_527|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_527.xml"
] | FANCF | [
"613897"
] | null | 121,719 | null | null | null | null | HGNC:3587 | [
"ENST00000327470.6",
"NM_022725.4"
] | HGNC:3587 | 0a7889fa-e413-427d-b8c5-efd2258ab48c | null | null |
HGNC:1148 | BUB1 | BUB1 mitotic checkpoint serine/threonine kinase | protein-coding gene | gene with protein product | Approved | 2q13 | [
"hBUB1",
"BUB1A"
] | null | [
"BUB1L"
] | [
"budding uninhibited by benzimidazoles 1 (yeast homolog)",
"budding uninhibited by benzimidazoles 1 homolog (yeast)"
] | null | null | 1997-08-18 | null | 2016-01-15 | 2023-01-20 | 699 | ENSG00000169679 | OTTHUMG00000153638 | uc002tgc.5 | [
"AF046078"
] | [
"NM_004336"
] | null | [
"O43683"
] | [
9441741
] | [
"MGI:1100510"
] | [
"RGD:1311707"
] | null | null | [
"602452"
] | null | 367,084 | null | objectId:1949 | null | null | HGNC:1148 | [
"ENST00000302759.11",
"NM_004336.5"
] | HGNC:1148 | da597a4b-75a5-4d5b-92f0-98ca2f0a918d | null | null |
HGNC:16245 | PARD6B | par-6 family cell polarity regulator beta | protein-coding gene | gene with protein product | Approved | 20q13.13 | [
"PAR-6B"
] | null | null | [
"par-6 (partitioning defective 6, C.elegans) homolog beta",
"par-6 partitioning defective 6 homolog beta (C. elegans)"
] | [
"PDZ domain containing"
] | [
1220
] | 2001-08-01 | null | 2013-08-28 | 2023-01-20 | 84612 | ENSG00000124171 | OTTHUMG00000032732 | uc002xvo.3 | [
"AB044555"
] | [
"NM_032521"
] | [
"CCDS33485"
] | [
"Q9BYG5"
] | [
11260256
] | [
"MGI:2135605"
] | [
"RGD:1308205"
] | null | null | [
"608975"
] | null | null | null | null | null | null | HGNC:16245 | [
"ENST00000371610.7",
"NM_032521.3"
] | null | f518108a-cd0c-4737-b398-7531593c5f49 | null | null |
HGNC:12441 | TYMS | thymidylate synthetase | protein-coding gene | gene with protein product | Approved | 18p11.32 | [
"Tsase",
"TMS",
"HsT422"
] | null | [
"TS"
] | null | null | null | 1990-09-10 | null | null | 2023-01-20 | 7298 | ENSG00000176890 | OTTHUMG00000131473 | uc010dka.2 | [
"X02308"
] | [
"NM_001071"
] | null | [
"P04818"
] | null | [
"MGI:98878"
] | [
"RGD:3921"
] | [
"LRG_783|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_783.xml"
] | null | [
"188350"
] | null | 241,969 | null | objectId:2642 | null | [
"2.1.1.45"
] | HGNC:12441 | [
"ENST00000323274.15",
"NM_001071.4"
] | null | c667dcf6-a2c1-48a7-ae57-aa4cc4023a2e | null | null |
HGNC:16209 | RPRD1B | regulation of nuclear pre-mRNA domain containing 1B | protein-coding gene | gene with protein product | Approved | 20q11.23 | [
"dJ1057B20.2",
"DKFZp434P0735",
"CREPT",
"FLJ44520",
"NET60",
"Kub5-Hera",
"K-H"
] | [
"cell-cycle related and expression-elevated protein in tumor",
"Ku70-binding protein 5-Hera"
] | [
"C20orf77"
] | [
"chromosome 20 open reading frame 77"
] | null | null | 2001-07-17 | 2008-07-28 | 2008-08-15 | 2023-01-20 | 58490 | ENSG00000101413 | OTTHUMG00000032434 | uc002xho.5 | [
"AL109823"
] | [
"NM_021215"
] | [
"CCDS13301"
] | [
"Q9NQG5"
] | [
22231121
] | [
"MGI:1917720"
] | [
"RGD:1304782"
] | null | null | [
"614694"
] | null | null | null | null | null | null | HGNC:16209 | [
"ENST00000373433.9",
"NM_021215.4"
] | null | a742b1b7-2873-4a39-8c4c-67e7c1f2a904 | null | null |
HGNC:5468 | IGFALS | insulin like growth factor binding protein acid labile subunit | protein-coding gene | gene with protein product | Approved | 16p13.3 | [
"ALS"
] | null | null | [
"insulin-like growth factor binding protein, acid labile subunit"
] | null | null | 1997-11-28 | null | 2015-11-23 | 2023-01-20 | 3483 | ENSG00000099769 | OTTHUMG00000128638 | uc002cmy.4 | [
"M86826"
] | [
"NM_001146006"
] | [
"CCDS10446",
"CCDS53982"
] | [
"P35858"
] | [
1379671,
16114275
] | [
"MGI:107973"
] | [
"RGD:68429"
] | [
"Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/IGFALS"
] | null | [
"601489"
] | null | 159,982 | null | null | null | null | HGNC:5468 | [
"ENST00000215539.4",
"NM_004970.3"
] | HGNC:5468 | 22c1142b-9019-4407-9b14-255ca573ed4d | null | null |
HGNC:29249 | FBXO42 | F-box protein 42 | protein-coding gene | gene with protein product | Approved | 1p36.13 | [
"KIAA1332",
"Fbx42"
] | null | null | null | [
"F-boxes other"
] | [
560
] | 2004-06-15 | null | null | 2023-01-20 | 54455 | ENSG00000037637 | OTTHUMG00000002218 | uc001ayg.4 | [
"BC063864"
] | [
"NM_018994"
] | [
"CCDS30613"
] | [
"Q6P3S6"
] | [
10718198
] | [
"MGI:1924992"
] | [
"RGD:1304787"
] | null | null | [
"609109"
] | null | null | null | null | null | null | HGNC:29249 | [
"ENST00000375592.8",
"NM_018994.3"
] | null | 71f7b405-bef0-49a9-9df2-4495231b6fe3 | null | null |
HGNC:30631 | TADA1 | transcriptional adaptor 1 | protein-coding gene | gene with protein product | Approved | 1q24.1 | [
"STAF42",
"ADA1",
"hADA1",
"HFI1"
] | null | [
"TADA1L"
] | [
"transcriptional adaptor 1 (HFI1 homolog, yeast)-like",
"transcriptional adaptor 1 (HFI1 homolog, yeast)"
] | [
"SAGA complex"
] | [
1059
] | 2005-06-10 | 2009-10-02 | 2009-10-02 | 2023-01-20 | 117143 | ENSG00000152382 | OTTHUMG00000034321 | uc001gdw.4 | [
"BC015401"
] | [
"NM_053053"
] | [
"CCDS1255"
] | [
"Q96BN2"
] | [
11564863
] | [
"MGI:1196415"
] | [
"RGD:1306774"
] | null | null | [
"612763"
] | null | null | null | null | null | null | HGNC:30631 | [
"ENST00000367874.5",
"NM_053053.4"
] | null | 5b2623c7-5d77-478c-a809-ff35f76b6242 | null | null |
HGNC:9826 | RAD54L | RAD54 like | protein-coding gene | gene with protein product | Approved | 1p34.1 | [
"hHR54",
"hRAD54",
"RAD54A"
] | null | null | [
"RAD54 (S.cerevisiae)-like",
"RAD54 like (S. cerevisiae)"
] | [
"SNF2 related family"
] | [
1190
] | 1998-11-04 | null | 2017-08-08 | 2023-01-20 | 8438 | ENSG00000085999 | OTTHUMG00000007772 | uc009vye.2 | [
"X97795"
] | [
"NM_003579"
] | [
"CCDS532"
] | [
"Q92698"
] | [
8805304
] | [
"MGI:894697"
] | [
"RGD:1310600"
] | [
"LRG_1414|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1414.xml"
] | null | [
"603615"
] | null | 437,664 | null | null | null | null | HGNC:9826 | [
"ENST00000371975.9",
"NM_003579.4"
] | null | 9afbb9bf-2df3-495c-888e-b5c961aa7439 | null | null |
HGNC:24327 | VGLL3 | vestigial like family member 3 | protein-coding gene | gene with protein product | Approved | 3p12.1 | [
"VGL-3"
] | null | null | [
"vestigial like 3 (Drosophila)",
"vestigial-like family member 3"
] | [
"Vestigial like family"
] | [
367
] | 2005-12-30 | null | 2015-11-23 | 2023-01-20 | 389136 | ENSG00000206538 | OTTHUMG00000158984 | uc003dqn.4 | [
"AF099505"
] | [
"NM_016206"
] | [
"CCDS43110",
"CCDS82807"
] | [
"A8MV65"
] | [
12376544
] | [
"MGI:1920819"
] | [
"RGD:1560030"
] | null | null | [
"609980"
] | null | null | null | null | null | null | HGNC:24327 | [
"ENST00000398399.7",
"NM_016206.4"
] | null | 61b910b1-3d7e-4ba1-96f2-84c99b785f06 | null | null |
HGNC:20292 | CAB39 | calcium binding protein 39 | protein-coding gene | gene with protein product | Approved | 2q37.1 | [
"CGI-66",
"MO25"
] | null | null | null | [
"Armadillo like helical domain containing"
] | [
1492
] | 2004-07-02 | null | null | 2023-07-26 | 51719 | ENSG00000135932 | OTTHUMG00000133220 | uc002vqx.4 | [
"AF113536"
] | [
"NM_016289"
] | [
"CCDS2478"
] | [
"Q9Y376"
] | [
8418809,
14730349
] | [
"MGI:107438"
] | [
"RGD:1306390"
] | null | null | [
"612174"
] | null | null | null | null | null | null | HGNC:20292 | [
"ENST00000258418.10",
"NM_016289.4"
] | null | c4f4a894-9b0e-4f68-a0a0-f132937b4ac1 | null | null |
HGNC:12687 | VHL | von Hippel-Lindau tumor suppressor | protein-coding gene | gene with protein product | Approved | 3p25.3 | [
"VHL1"
] | null | null | [
"von Hippel-Lindau syndrome",
"von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase"
] | null | null | 1986-01-01 | null | 2016-03-02 | 2023-01-20 | 7428 | ENSG00000134086 | OTTHUMG00000128668 | uc003bvc.4 | [
"L15409"
] | [
"NM_000551"
] | null | [
"P40337"
] | [
9671762
] | [
"MGI:103223"
] | [
"RGD:3960"
] | [
"UMD Locus Specific Databases|http://www.umd.be/",
"LRG_322|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_322.xml"
] | VHL | [
"608537"
] | null | 120,467 | null | objectId:3204 | null | null | HGNC:12687 | [
"ENST00000256474.3",
"NM_000551.4"
] | HGNC:12687 | 50929358-41f1-430c-af5a-d727a5bd6a3e | null | null |
HGNC:17034 | TUSC2 | tumor suppressor 2, mitochondrial calcium regulator | protein-coding gene | gene with protein product | Approved | 3p21.31 | [
"FUS1",
"PAP",
"C3orf11"
] | null | [
"PDAP2"
] | [
"PDGFA associated protein 2",
"tumor suppressor candidate 2"
] | null | null | 2003-09-25 | 2004-01-21 | 2018-02-23 | 2023-01-20 | 11334 | ENSG00000114383 | OTTHUMG00000156877 | uc003czy.2 | [
"AF055479"
] | [
"NM_007275"
] | [
"CCDS2819"
] | [
"O75896"
] | [
8780057,
11593436
] | [
"MGI:1931086"
] | [
"RGD:1561664"
] | null | null | [
"607052"
] | null | null | null | null | null | null | HGNC:17034 | [
"ENST00000232496.5",
"NM_007275.3"
] | null | e0126842-7a76-4abe-8b75-6309735e64eb | null | null |
HGNC:23147 | UNC13D | unc-13 homolog D | protein-coding gene | gene with protein product | Approved | 17q25.3 | [
"Munc13-4"
] | null | null | [
"unc-13 homolog D (C. elegans)"
] | [
"UNC13 homologs"
] | [
836
] | 2003-10-16 | null | 2016-04-05 | 2024-01-16 | 201294 | ENSG00000092929 | OTTHUMG00000179895 | uc002jpp.5 | [
"AK024474"
] | [
"NM_199242"
] | [
"CCDS11730"
] | [
"Q70J99"
] | [
17993578
] | [
"MGI:1917700"
] | [
"RGD:628593"
] | [
"UNC13Dbase: Mutation registry for Familial hemophagocytic lymphohistiocytosis 3|http://structure.bmc.lu.se/idbase/UNC13Dbase/",
"CCHMC-BMI & UC Hearing Loss Mutation Database|https://research.cchmc.org/LOVD/home.php?select_db=UNC13D",
"LRG_122|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_122.xml"
] | null | [
"608897"
] | null | 120,416 | null | null | null | null | HGNC:23147 | [
"ENST00000207549.9",
"NM_199242.3"
] | HGNC:23147 | 9df77aac-e404-4007-92ad-897f72a70930 | null | null |
HGNC:18017 | NUP160 | nucleoporin 160 | protein-coding gene | gene with protein product | Approved | 11p11.2 | [
"KIAA0197",
"FLJ22583"
] | [
"Nuclear pore complex protein Nup160"
] | null | [
"nucleoporin 160kDa"
] | [
"Nucleoporins"
] | [
1051
] | 2002-01-18 | null | 2016-06-01 | 2023-06-19 | 23279 | ENSG00000030066 | OTTHUMG00000166534 | uc001ngm.4 | [
"D83781"
] | [
"NM_015231"
] | [
"CCDS31484",
"CCDS81567"
] | [
"Q12769"
] | [
11684705
] | [
"MGI:1926227"
] | [
"RGD:1311052"
] | null | null | [
"607614"
] | null | null | null | null | null | null | HGNC:18017 | [
"ENST00000378460.7",
"NM_015231.3"
] | HGNC:18017 | bea38402-fcc3-4995-a241-6265f0a379ce | null | null |
HGNC:13607 | FBXW11 | F-box and WD repeat domain containing 11 | protein-coding gene | gene with protein product | Approved | 5q35.1 | [
"KIAA0696",
"Fbw1b",
"BTRCP2",
"BTRC2",
"Hos",
"Fbw11"
] | null | [
"FBXW1B"
] | [
"F-box and WD-40 domain protein 1B",
"F-box and WD-40 domain protein 11"
] | [
"WD repeat domain containing",
"F-box and WD repeat domain containing"
] | [
362,
559
] | 2000-09-27 | 2004-06-16 | 2007-02-08 | 2023-01-20 | 23291 | ENSG00000072803 | OTTHUMG00000163267 | uc003mbl.2 | [
"AB014596"
] | [
"NM_012300"
] | null | [
"Q9UKB1"
] | [
10531035,
10694485
] | [
"MGI:2144023"
] | [
"RGD:1309121"
] | null | null | [
"605651"
] | null | null | null | null | null | null | HGNC:13607 | [
"ENST00000517395.6",
"NM_001378974.1"
] | HGNC:13607 | 79ad3c1d-e16a-43f0-b26a-0e7af238b35e | null | null |
HGNC:4113 | GAK | cyclin G associated kinase | protein-coding gene | gene with protein product | Approved | 4p16.3 | [
"DNAJC26"
] | [
"auxilin-2"
] | null | null | [
"DNAJ (HSP40) heat shock proteins",
"C2 tensin-type domain containing"
] | [
584,
837
] | 1997-01-09 | null | null | 2023-01-20 | 2580 | ENSG00000178950 | OTTHUMG00000088301 | uc003gbm.6 | [
"D88435"
] | [
"NM_005255"
] | null | [
"O14976"
] | [
9299234
] | [
"MGI:2442153"
] | [
"RGD:621589"
] | null | null | [
"602052"
] | null | null | null | objectId:2027 | null | null | HGNC:4113 | [
"ENST00000314167.9",
"NM_005255.4"
] | null | e2827137-82f7-4864-9b8a-14107b34eec4 | null | null |
HGNC:4606 | PDIA3 | protein disulfide isomerase family A member 3 | protein-coding gene | gene with protein product | Approved | 15q15.3 | [
"P58",
"ERp61",
"ERp57",
"ERp60",
"GRP57",
"PI-PLC",
"HsT17083"
] | null | [
"GRP58"
] | [
"glucose regulated protein, 58kDa",
"protein disulfide isomerase-associated 3",
"protein disulfide isomerase family A, member 3"
] | [
"Protein disulfide isomerases"
] | [
692
] | 1997-06-09 | 2005-03-03 | 2015-11-16 | 2023-01-20 | 2923 | ENSG00000167004 | OTTHUMG00000044444 | uc001zsu.4 | null | [
"NM_005313"
] | [
"CCDS10101"
] | [
"P30101"
] | [
8974399
] | [
"MGI:95834"
] | [
"RGD:68430"
] | null | null | [
"602046"
] | null | null | null | objectId:3293 | null | [
"5.3.4.1"
] | HGNC:4606 | [
"ENST00000300289.10",
"NM_005313.5"
] | null | b3abf99f-c531-4b1b-b136-37b3daea91e4 | null | null |
HGNC:12607 | USP1 | ubiquitin specific peptidase 1 | protein-coding gene | gene with protein product | Approved | 1p31.3 | null | [
"Ubiquitinyl hydrolase 1, Ubiquitin carboxyl-terminal hydrolase 1, ubiquitin thiolesterase 1"
] | null | [
"ubiquitin specific protease 1"
] | [
"Ubiquitin specific peptidases"
] | [
366
] | 1998-06-08 | null | 2005-08-08 | 2023-01-20 | 7398 | ENSG00000162607 | OTTHUMG00000008972 | uc001daj.3 | null | [
"NM_001017415"
] | [
"CCDS621"
] | [
"O94782"
] | [
12838346
] | [
"MGI:2385198"
] | [
"RGD:1306461"
] | null | null | [
"603478"
] | null | null | C19.019 | objectId:2428 | null | [
"3.4.19.12"
] | HGNC:12607 | [
"ENST00000339950.5",
"NM_003368.5"
] | HGNC:12607 | 591bb6a9-2148-4654-95bd-6a565f7eba46 | null | null |
HGNC:23177 | KEAP1 | kelch like ECH associated protein 1 | protein-coding gene | gene with protein product | Approved | 19p13.2 | [
"KIAA0132",
"MGC10630",
"MGC1114",
"MGC20887",
"MGC4407",
"MGC9454",
"INrf2",
"KLHL19"
] | [
"kelch-like family member 19"
] | null | null | [
"Kelch like",
"BTB domain containing"
] | [
617,
861
] | 2003-09-30 | null | 2015-11-23 | 2023-01-20 | 9817 | ENSG00000079999 | OTTHUMG00000180579 | uc002mor.2 | [
"AF361886"
] | [
"NM_012289"
] | [
"CCDS12239"
] | [
"Q14145"
] | null | [
"MGI:1858732"
] | [
"RGD:621619"
] | null | KEAP1 | [
"606016"
] | null | null | null | objectId:2757 | null | null | HGNC:23177 | [
"ENST00000171111.10",
"NM_203500.2"
] | HGNC:23177 | cf5bd1e5-c2a6-4408-9450-adb7a50232ce | null | null |
HGNC:25675 | CHMP6 | charged multivesicular body protein 6 | protein-coding gene | gene with protein product | Approved | 17q25.3 | [
"FLJ11749",
"VPS20"
] | null | null | [
"chromatin modifying protein 6"
] | [
"Charged multivesicular body proteins",
"ESCRT-III"
] | [
482,
1118
] | 2005-04-04 | null | 2011-09-21 | 2023-08-02 | 79643 | ENSG00000176108 | OTTHUMG00000177645 | uc002jyw.4 | [
"BC010108"
] | [
"NM_024591"
] | [
"CCDS11774"
] | [
"Q96FZ7"
] | [
11559748,
15511219
] | [
"MGI:3583942"
] | [
"RGD:1565325"
] | null | null | [
"610901"
] | null | null | null | null | null | null | HGNC:25675 | [
"ENST00000325167.9",
"NM_024591.5"
] | null | e54cdca4-022a-4460-b389-11112c6b3016 | null | null |
HGNC:29681 | SLC25A33 | solute carrier family 25 member 33 | protein-coding gene | gene with protein product | Approved | 1p36.22 | [
"MGC4399",
"BMSC-MCP",
"PNC1"
] | null | null | [
"solute carrier family 25, member 33",
"solute carrier family 25 (pyrimidine nucleotide carrier), member 33"
] | [
"Solute carrier family 25"
] | [
2176
] | 2006-09-21 | null | 2016-02-18 | 2023-01-20 | 84275 | ENSG00000171612 | OTTHUMG00000001322 | uc001apw.4 | [
"AF495714"
] | [
"NM_032315"
] | [
"CCDS103"
] | [
"Q9BSK2"
] | [
14715278,
16949250
] | [
"MGI:1917806"
] | [
"RGD:1583942"
] | null | null | [
"610816"
] | SLC25A33 | null | null | objectId:1084 | null | null | HGNC:29681 | [
"ENST00000302692.7",
"NM_032315.3"
] | null | 95af2e7d-6184-4790-bfd9-a69681b7a25d | null | null |
HGNC:18533 | USP48 | ubiquitin specific peptidase 48 | protein-coding gene | gene with protein product | Approved | 1p36.12 | [
"FLJ23277",
"FLJ11328",
"FLJ20103",
"FLJ23054",
"MGC14879"
] | null | [
"USP31"
] | [
"ubiquitin specific protease 31",
"ubiquitin specific protease 48"
] | [
"Ubiquitin specific peptidases"
] | [
366
] | 2003-05-29 | 2004-04-07 | 2005-08-08 | 2023-03-17 | 84196 | ENSG00000090686 | OTTHUMG00000007798 | uc001bfb.4 | [
"AF502942"
] | [
"NM_032236"
] | null | [
"Q86UV5"
] | [
12838346,
15354349
] | [
"MGI:2158502"
] | [
"RGD:735213"
] | null | null | [
"617445"
] | null | null | C19.068 | null | null | null | HGNC:18533 | [
"ENST00000308271.14",
"NM_032236.8"
] | HGNC:18533 | 4e0cddea-e0fa-4bff-ab58-b3e91c8c8bb2 | null | null |
HGNC:17233 | ELMO2 | engulfment and cell motility 2 | protein-coding gene | gene with protein product | Approved | 20q13.12 | [
"CED12",
"ELMO-2",
"CED-12",
"KIAA1834",
"FLJ11656"
] | null | null | [
"engulfment and cell motility 2 (ced-12 homolog, C. elegans)"
] | [
"Engulfment and cell motility proteins"
] | [
543
] | 2001-12-13 | null | 2006-01-20 | 2023-01-20 | 63916 | ENSG00000062598 | OTTHUMG00000033070 | uc002xru.2 | [
"AF398886"
] | [
"NM_022086"
] | [
"CCDS13398",
"CCDS82623"
] | [
"Q96JJ3"
] | [
11595183
] | [
"MGI:2153045"
] | [
"RGD:1305784"
] | null | null | [
"606421"
] | null | 465,978 | null | null | null | null | HGNC:17233 | [
"ENST00000290246.11",
"NM_133171.5"
] | HGNC:17233 | 8df4ed04-328f-4ee0-a0b6-4920f02a368a | null | null |
HGNC:9588 | PTEN | phosphatase and tensin homolog | protein-coding gene | gene with protein product | Approved | 10q23.31 | [
"MMAC1",
"TEP1",
"PTEN1"
] | [
"mutated in multiple advanced cancers 1",
"Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN"
] | [
"BZS",
"MHAM"
] | null | [
"C2 tensin-type domain containing",
"PTEN protein phosphatases",
"Phosphoinositide phosphatases"
] | [
837,
902,
1079
] | 1997-04-21 | null | 2008-07-31 | 2023-11-09 | 5728 | ENSG00000171862 | OTTHUMG00000018688 | uc001kfb.4 | [
"U92436"
] | [
"NM_000314"
] | [
"CCDS31238"
] | [
"P60484"
] | [
9090379
] | [
"MGI:109583"
] | [
"RGD:61995"
] | [
"LRG_311|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_311.xml"
] | PTEN | [
"601728"
] | null | 118,128 | null | objectId:2497 | null | [
"3.1.3.16",
"3.1.3.48",
"3.1.3.67"
] | HGNC:9588 | [
"ENST00000371953.8",
"NM_000314.8"
] | HGNC:9588 | 2f0f357d-a8fd-4e42-a808-05cfa3f0cfb3 | null | null |
HGNC:11998 | TP53 | tumor protein p53 | protein-coding gene | gene with protein product | Approved | 17p13.1 | [
"p53",
"LFS1"
] | [
"Li-Fraumeni syndrome"
] | null | null | null | null | 1986-01-01 | null | 2008-01-16 | 2023-01-20 | 7157 | ENSG00000141510 | OTTHUMG00000162125 | uc060aur.1 | [
"AF307851"
] | [
"NM_000546"
] | null | [
"P04637"
] | [
6396087,
3456488,
2047879
] | [
"MGI:98834"
] | [
"RGD:3889"
] | [
"IARC TP53 Mutation Database|http://www-p53.iarc.fr/",
"p53 UMD TP53 mutation database|http://p53.fr/",
"Database of Germline p53 Mutations|http://www.lf2.cuni.cz/projects/germline_mut_p53.htm",
"MUTP53LOAD, Mutant p53 Loss Of Activity Database|http://www.umd.be:2072/",
"LRG_321|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_321.xml"
] | TP53 | [
"191170"
] | null | 120,204 | null | null | null | null | HGNC:11998 | [
"ENST00000269305.9",
"NM_000546.6"
] | HGNC:11998 | e0978285-ce58-482d-9414-dc11d3bc3c3b | null | null |
HGNC:17485 | PPP2R3C | protein phosphatase 2 regulatory subunit B''gamma | protein-coding gene | gene with protein product | Approved | 14q13.2 | [
"FLJ20644",
"G4-1",
"G5PR"
] | null | [
"C14orf10"
] | [
"chromosome 14 open reading frame 10",
"protein phosphatase 2 (formerly 2A), regulatory subunit B''"
] | [
"Protein phosphatase 2 regulatory subunits"
] | [
696
] | 2002-11-18 | 2007-01-22 | 2017-04-05 | 2023-01-20 | 55012 | ENSG00000092020 | OTTHUMG00000140224 | uc001wss.4 | [
"AK000651"
] | [
"NM_017917"
] | [
"CCDS9654"
] | [
"Q969Q6"
] | [
12167160,
16129705
] | [
"MGI:1930009"
] | [
"RGD:1309207"
] | null | null | [
"615902"
] | null | null | null | null | null | null | HGNC:17485 | [
"ENST00000261475.10",
"NM_017917.4"
] | HGNC:17485 | 6b7d7a79-09a3-422a-9a56-c20d10926390 | null | null |
HGNC:7701 | NDUFB6 | NADH:ubiquinone oxidoreductase subunit B6 | protein-coding gene | gene with protein product | Approved | 9p21.1 | [
"B17",
"CI"
] | [
"NADH-ubiquinone oxidoreductase beta subunit, 6",
"NADH-ubiquinone oxidoreductase B17 subunit",
"complex I, mitochondrial respiratory chain, B17 subunit"
] | null | [
"NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 6 (17kD, B17)",
"NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 6, 17kDa"
] | [
"NADH:ubiquinone oxidoreductase supernumerary subunits"
] | [
1150
] | 1997-12-09 | null | 2015-11-20 | 2023-01-20 | 4712 | ENSG00000165264 | OTTHUMG00000019741 | uc003zre.3 | [
"AF035840"
] | [
"NM_002493"
] | null | [
"O95139"
] | [
9763677,
9760212
] | [
"MGI:2684983"
] | [
"RGD:1311354"
] | null | null | [
"603322"
] | null | 470,752 | null | null | null | null | HGNC:7701 | [
"ENST00000379847.8",
"NM_002493.5"
] | null | 4cfddc82-5962-49a5-82d3-cb8d62e5adba | null | null |
HGNC:4163 | GART | phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase | protein-coding gene | gene with protein product | Approved | 21q22.11 | [
"GARS-AIRS-GART"
] | [
"GAR transformylase",
"glycinamide ribonucleotide synthetase-aminoimidazole ribonucleotide synthetase-glycinamide ribonucleotide transformylase",
"Glycinamide ribonucleotide formyltransferase",
"Trifunctional purine biosynthetic protein adenosine-3"
] | [
"PRGS",
"PGFT"
] | null | [
"Purinosome"
] | [
1569
] | 2001-06-22 | null | null | 2023-01-20 | 2618 | ENSG00000159131 | OTTHUMG00000065628 | uc002yry.4 | [
"M32082"
] | [
"NM_000819"
] | null | [
"P22102"
] | [
2050105
] | [
"MGI:95654"
] | [
"RGD:1308717"
] | null | null | [
"138440"
] | null | null | null | objectId:2612 | null | [
"2.1.2.2",
"6.3.3.1",
"6.3.4.13"
] | HGNC:4163 | [
"ENST00000381815.9",
"NM_000819.5"
] | null | 7ef85e44-cf43-40b3-8e18-b17e0416e3d2 | null | null |
HGNC:28814 | TMCO6 | transmembrane and coiled-coil domains 6 | protein-coding gene | gene with protein product | Approved | 5q31.3 | [
"FLJ39769",
"PRO1580"
] | null | null | null | [
"Armadillo like helical domain containing"
] | [
1492
] | 2006-08-21 | null | null | 2023-01-20 | 55374 | ENSG00000113119 | OTTHUMG00000129497 | uc003lgl.4 | [
"BC001910"
] | [
"NM_018502"
] | [
"CCDS4233",
"CCDS75320"
] | [
"Q96DC7"
] | [
12477932
] | [
"MGI:1919233"
] | [
"RGD:1309263"
] | null | null | null | null | null | null | null | null | null | HGNC:28814 | [
"ENST00000394671.8",
"NM_018502.5"
] | null | 1e6a4dd2-4ca2-4632-8839-db83b3150204 | null | null |
HGNC:4670 | GTPBP2 | GTP binding protein 2 | protein-coding gene | gene with protein product | Approved | 6p21.1 | null | null | null | null | null | null | 2000-07-31 | null | null | 2023-01-20 | 54676 | ENSG00000172432 | OTTHUMG00000014744 | uc003ovs.5 | [
"AB024574"
] | [
"NM_001286216"
] | null | [
"Q9BX10"
] | [
10833435,
11054535
] | [
"MGI:1860138"
] | [
"RGD:1306367"
] | null | null | [
"607434"
] | null | null | null | null | null | null | HGNC:4670 | [
"ENST00000307126.10",
"NM_019096.5"
] | HGNC:4670 | d987dbca-8e52-4dad-a8ad-1619d19550ff | null | null |
HGNC:7765 | NF1 | neurofibromin 1 | protein-coding gene | gene with protein product | Approved | 17q11.2 | null | [
"neurofibromatosis",
"von Recklinghausen disease",
"Watson disease"
] | null | null | [
"Armadillo like helical domain containing"
] | [
1492
] | 1986-01-01 | null | 2008-07-31 | 2023-01-20 | 4763 | ENSG00000196712 | OTTHUMG00000132871 | uc002hgh.3 | null | [
"NM_000267"
] | null | [
"P21359"
] | [
1715669
] | [
"MGI:97306"
] | [
"RGD:3168"
] | [
"Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/NF1",
"LRG_214|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_214.xml"
] | NF1 | [
"613113"
] | null | 123,772 | null | null | null | null | HGNC:7765 | [
"ENST00000358273.9",
"NM_001042492.3"
] | HGNC:7765 | 9f7fb9b1-7284-4e41-9d37-0e153ef5b2dc | null | null |
HGNC:7880 | CNOT4 | CCR4-NOT transcription complex subunit 4 | protein-coding gene | gene with protein product | Approved | 7q33 | [
"CLONE243",
"NOT4H"
] | null | [
"NOT4"
] | [
"CCR4-NOT transcription complex, subunit 4"
] | [
"Ring finger proteins",
"RNA binding motif containing",
"CCR4-NOT transcription complex"
] | [
58,
725,
1023
] | 1996-07-19 | null | 2015-11-12 | 2023-01-20 | 4850 | ENSG00000080802 | OTTHUMG00000155568 | uc003vss.4 | [
"AF180475"
] | [
"NM_013316"
] | null | [
"O95628"
] | [
10637334,
18533727
] | [
"MGI:1859026"
] | [
"RGD:1310318"
] | null | null | [
"604911"
] | null | null | null | null | null | null | HGNC:7880 | [
"ENST00000541284.6",
"NM_001190850.2"
] | null | 95a23e0d-586c-4724-aeec-0d8ee426feda | null | null |
HGNC:17271 | RRAS2 | RAS related 2 | protein-coding gene | gene with protein product | Approved | 11p15.2 | [
"TC21"
] | null | null | [
"related RAS viral (r-ras) oncogene homolog 2"
] | [
"RAS type GTPase family"
] | [
389
] | 2001-11-30 | null | 2017-08-02 | 2023-01-20 | 22800 | ENSG00000133818 | OTTHUMG00000165756 | uc001mlf.5 | [
"M31468"
] | [
"NM_012250"
] | null | [
"P62070"
] | [
2108320,
8052619
] | [
"MGI:1914172"
] | [
"RGD:1310793"
] | null | RRAS2 | [
"600098"
] | null | null | null | null | null | null | HGNC:17271 | [
"ENST00000256196.9",
"NM_012250.6"
] | HGNC:17271 | a0303add-0a84-44de-9bb9-ac6e3f62670f | null | null |
HGNC:7705 | NDUFC1 | NADH:ubiquinone oxidoreductase subunit C1 | protein-coding gene | gene with protein product | Approved | 4q31.1 | [
"KFYI"
] | [
"complex I KFYI subunit"
] | null | [
"NADH dehydrogenase (ubiquinone) 1, subcomplex unknown, 1 (6kD, KFYI)",
"NADH dehydrogenase (ubiquinone) 1, subcomplex unknown, 1, 6kDa"
] | [
"NADH:ubiquinone oxidoreductase supernumerary subunits"
] | [
1150
] | 1997-12-17 | null | 2015-11-20 | 2023-01-20 | 4717 | ENSG00000109390 | OTTHUMG00000133387 | uc021xsd.1 | [
"AF047184"
] | [
"NM_002494"
] | [
"CCDS3746"
] | [
"O43677"
] | [
9425316,
9763677
] | [
"MGI:1913627"
] | [
"RGD:1586362"
] | null | null | [
"603844"
] | null | 470,758 | null | null | null | null | HGNC:7705 | [
"ENST00000394223.2",
"NM_001184989.2"
] | null | ddb038fe-8068-4bd2-90d7-75b1782ea418 | null | null |
HGNC:30536 | DMAC1 | distal membrane arm assembly component 1 | protein-coding gene | gene with protein product | Approved | 9p24.1 | [
"MGC4730"
] | null | [
"C9orf123",
"TMEM261"
] | [
"chromosome 9 open reading frame 123",
"transmembrane protein 261",
"distal membrane arm assembly complex 1"
] | [
"Mitochondrial respiratory chain complex assembly factors"
] | [
645
] | 2004-04-15 | 2017-06-01 | 2021-02-05 | 2023-01-20 | 90871 | ENSG00000137038 | OTTHUMG00000019539 | null | [
"BC009510"
] | [
"NM_033428"
] | [
"CCDS34989"
] | [
"Q96GE9"
] | [
21666724,
27626371
] | [
"MGI:1914178"
] | [
"RGD:1309148"
] | null | null | [
"617261"
] | null | null | null | null | null | null | HGNC:30536 | [
"ENST00000358227.5",
"NM_033428.3"
] | null | 27b562f3-2be5-4dcb-b8e0-2dfb0a19c9e3 | null | null |
HGNC:25223 | COQ2 | coenzyme Q2, polyprenyltransferase | protein-coding gene | gene with protein product | Approved | 4q21.23 | [
"CL640",
"FLJ26072"
] | [
"4-hydroxybenzoate polyprenyltransferase"
] | null | [
"coenzyme Q2 homolog, prenyltransferase (yeast)"
] | null | null | 2005-07-05 | null | 2016-03-21 | 2023-01-20 | 27235 | ENSG00000173085 | OTTHUMG00000160940 | uc003hog.3 | null | [
"NM_015697"
] | [
"CCDS47090",
"CCDS87234"
] | [
"Q96H96"
] | [
15153069,
17332895
] | [
"MGI:1919133"
] | [
"RGD:1306722"
] | null | null | [
"609825"
] | null | 120,770 | null | null | null | [
"2.5.1.39"
] | HGNC:25223 | [
"ENST00000647002.2",
"NM_001358921.2"
] | HGNC:25223 | f0f51982-f687-496e-8be8-b6502caf9a12 | null | null |
HGNC:9438 | PRKRA | protein activator of interferon induced protein kinase EIF2AK2 | protein-coding gene | gene with protein product | Approved | 2q31.2 | [
"PACT",
"RAX",
"HSD14",
"DYT16"
] | [
"protein activator of the interferon-induced protein kinase",
"PKR-associated protein X"
] | null | [
"protein kinase, interferon-inducible double stranded RNA dependent activator"
] | [
"RISC loading complex subunits"
] | [
1776
] | 1999-12-07 | null | 2016-01-06 | 2023-05-10 | 8575 | ENSG00000180228 | OTTHUMG00000132576 | uc002umf.3 | [
"AF072860"
] | [
"NM_003690"
] | null | [
"O75569"
] | [
9687506,
10336432
] | [
"MGI:1344375"
] | [
"RGD:1306707"
] | null | null | [
"603424"
] | null | 213,048 | null | null | null | null | HGNC:9438 | [
"ENST00000325748.9",
"NM_003690.5"
] | HGNC:9438 | 40d55a43-5513-4652-b997-ac272412633b | null | null |
HGNC:3585 | FANCD2 | FA complementation group D2 | protein-coding gene | gene with protein product | Approved | 3p25.3 | [
"FAD",
"FA-D2"
] | null | [
"FACD",
"FANCD"
] | [
"Fanconi anemia complementation group D2"
] | [
"FA complementation groups",
"Armadillo like helical domain containing"
] | [
548,
1492
] | 1996-01-04 | 2001-10-05 | 2018-05-09 | 2023-01-20 | 2177 | ENSG00000144554 | OTTHUMG00000128670 | uc003buw.4 | [
"AF340183"
] | [
"NM_001018115"
] | [
"CCDS2595",
"CCDS33696"
] | [
"Q9BXW9"
] | [
7581463,
11239453,
18475298
] | [
"MGI:2448480"
] | [
"RGD:1303172"
] | [
"Fanconi Anaemia Mutation Database|http://www2.rockefeller.edu/fanconi/",
"Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/FANCD2",
"LRG_306|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_306.xml"
] | FANCD2 | [
"613984"
] | null | 121,709 | null | null | null | null | HGNC:3585 | [
"ENST00000675286.1",
"NM_001018115.3"
] | HGNC:3585 | 3bdabdbb-31ef-43be-82f3-4a60761d76c5 | null | null |
HGNC:6397 | KPNA4 | karyopherin subunit alpha 4 | protein-coding gene | gene with protein product | Approved | 3q25.33 | [
"QIP1",
"SRP3",
"IPOA3",
"MGC12217",
"MGC26703"
] | [
"importin alpha 3"
] | null | [
"karyopherin alpha 4 (importin alpha 3)",
"karyopherin alpha 4"
] | [
"Armadillo repeat containing",
"Importins"
] | [
409,
596
] | 1998-08-20 | null | 2016-02-01 | 2023-01-20 | 3840 | ENSG00000186432 | OTTHUMG00000159033 | uc003fdn.3 | [
"AB002533"
] | [
"NM_002268"
] | [
"CCDS3191"
] | [
"O00629"
] | [
9168958,
9395085
] | [
"MGI:1100848"
] | [
"RGD:1311483"
] | null | null | [
"602970"
] | null | null | null | null | null | null | HGNC:6397 | [
"ENST00000334256.9",
"NM_002268.5"
] | null | 557135d0-0184-4058-8335-5e9b10756bb4 | null | null |
HGNC:9352 | PRDX1 | peroxiredoxin 1 | protein-coding gene | gene with protein product | Approved | 1p34.1 | [
"NKEFA"
] | null | [
"PAGA"
] | null | [
"Peroxiredoxins"
] | [
953
] | 1993-11-01 | null | null | 2023-01-20 | 5052 | ENSG00000117450 | OTTHUMG00000007738 | uc001cob.4 | [
"BC021683"
] | [
"NM_181697"
] | [
"CCDS522"
] | [
"Q06830"
] | [
8496166
] | [
"MGI:99523"
] | [
"RGD:620039"
] | null | null | [
"176763"
] | null | null | null | null | null | null | HGNC:9352 | [
"ENST00000319248.13",
"NM_181697.3"
] | HGNC:9352 | dae0cb94-2fca-4a53-b287-2e4b22ee8818 | null | null |
HGNC:22408 | ATG9A | autophagy related 9A | protein-coding gene | gene with protein product | Approved | 2q35 | [
"FLJ22169"
] | null | [
"APG9L1"
] | [
"APG9 autophagy 9-like 1 (S. cerevisiae)",
"ATG9 autophagy related 9 homolog A (S. cerevisiae)"
] | [
"Autophagy related"
] | [
1022
] | 2004-11-24 | 2005-09-11 | 2012-06-06 | 2023-07-17 | 79065 | ENSG00000198925 | OTTHUMG00000154557 | uc002vkf.3 | [
"AK021732"
] | [
"NM_024085"
] | [
"CCDS42820"
] | [
"Q7Z3C6"
] | [
29180427,
33106659
] | [
"MGI:2138446"
] | [
"RGD:1310450"
] | null | null | [
"612204"
] | null | null | null | null | null | null | HGNC:22408 | [
"ENST00000361242.9",
"NM_001077198.3"
] | null | d62e0fb7-e1f4-40e7-81d3-c7079955dc74 | null | null |
HGNC:1748 | CDH1 | cadherin 1 | protein-coding gene | gene with protein product | Approved | 16q22.1 | [
"uvomorulin",
"CD324"
] | [
"E-Cadherin"
] | [
"UVO"
] | [
"cadherin 1, type 1, E-cadherin (epithelial)"
] | [
"CD molecules",
"Type I classical cadherins"
] | [
471,
1185
] | 1986-01-01 | null | 2016-01-15 | 2023-01-20 | 999 | ENSG00000039068 | OTTHUMG00000137561 | uc002ewg.2 | [
"L08599"
] | [
"NM_004360"
] | null | [
"P12830"
] | [
9925936
] | [
"MGI:88354"
] | [
"RGD:69279"
] | [
"LRG_301|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_301.xml"
] | CDH1 | [
"192090"
] | null | 119,276 | null | null | CD324 | null | HGNC:1748 | [
"ENST00000261769.10",
"NM_004360.5"
] | HGNC:1748 | ed200e21-6dd4-46d1-b1f1-0817b32a884c | null | [
"This entry has the approved symbol CDH1 which is also an alias symbol for the unrelated gene [FZR1](https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:24824)."
] |
HGNC:20294 | USPL1 | ubiquitin specific peptidase like 1 | protein-coding gene | gene with protein product | Approved | 13q12.3 | [
"bA121O19.1",
"D13S106E"
] | null | [
"C13orf22"
] | [
"chromosome 13 open reading frame 22"
] | [
"Ubiquitin specific peptidases",
"Ubiquitin specific peptidase like "
] | [
366,
988
] | 2004-04-16 | 2005-11-24 | 2005-11-24 | 2024-03-15 | 10208 | ENSG00000132952 | OTTHUMG00000016675 | uc001utc.3 | [
"X59131"
] | [
"NM_005800"
] | null | [
"Q5W0Q7"
] | [
22878415,
24413172,
35383180
] | [
"MGI:2442342"
] | [
"RGD:1310835"
] | null | null | [
"617470"
] | null | null | null | null | null | null | HGNC:20294 | [
"ENST00000255304.9",
"NM_005800.5"
] | null | 7047f585-00e3-494c-8d44-8741f897e20c | null | null |
HGNC:2495 | CTBP2 | C-terminal binding protein 2 | protein-coding gene | gene with protein product | Approved | 10q26.13 | [
"ribeye"
] | null | null | null | [
"MicroRNA protein coding host genes"
] | [
1691
] | 1997-08-22 | null | null | 2023-01-20 | 1488 | ENSG00000175029 | OTTHUMG00000019224 | uc009yal.4 | [
"AF016507"
] | [
"NM_001083914"
] | null | [
"P56545"
] | [
9479502,
11864595
] | [
"MGI:1201686"
] | [
"RGD:68372"
] | null | null | [
"602619"
] | null | null | null | null | null | null | HGNC:2495 | [
"ENST00000337195.11",
"NM_001329.4"
] | null | 86798954-841e-4a6f-aa9b-c18457e3c861 | null | null |
HGNC:5961 | IKBKG | inhibitor of nuclear factor kappa B kinase regulatory subunit gamma | protein-coding gene | gene with protein product | Approved | Xq28 | [
"IKK-gamma",
"NEMO",
"Fip3p",
"FIP-3",
"FIP3",
"ZC2HC9",
"IKKAP1",
"IKKG"
] | [
"NF-kappa-B essential modulator",
"IkB kinase-associated protein 1",
"I-kappa-B kinase subunit gamma",
"IkB kinase subunit gamma",
"14.7K (adenovirus E3 protein) interacting protein 3"
] | [
"IP2",
"IP1"
] | [
"incontinentia pigmenti",
"inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma",
"inhibitor of nuclear factor kappa B kinase subunit gamma"
] | [
"Zinc fingers C2HC-type",
"IKK complex"
] | [
66,
1817
] | 1998-09-30 | null | 2019-02-14 | 2023-01-20 | 8517 | ENSG00000269335 | OTTHUMG00000024234 | uc033fbv.2 | [
"AF074382"
] | [
"NM_003639"
] | null | [
"Q9Y6K9"
] | [
9751060,
10087442,
11590134,
11242109
] | [
"MGI:1338074"
] | [
"RGD:735223"
] | [
"IKBKGbase: Mutation registry for Nemo deficiency|http://structure.bmc.lu.se/idbase/IKBKGbase/",
"Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/IKBKG",
"LRG_70|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_70.xml"
] | null | [
"300248"
] | null | 122,614 | null | null | null | null | HGNC:5961 | [
"ENST00000594239.6",
"NM_001099857.5"
] | HGNC:5961 | aaf41256-6bd8-4f34-937c-703cc3b0719d | null | null |
HGNC:29088 | PDS5A | PDS5 cohesin associated factor A | protein-coding gene | gene with protein product | Approved | 4p14 | [
"KIAA0648",
"PIG54",
"SCC-112"
] | null | null | [
"PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)"
] | [
"Armadillo like helical domain containing"
] | [
1492
] | 2007-06-20 | null | 2014-11-17 | 2023-03-15 | 23244 | ENSG00000121892 | OTTHUMG00000160582 | uc003guv.4 | [
"AF294791"
] | [
"NM_015200"
] | [
"CCDS47045",
"CCDS54759"
] | [
"Q29RF7"
] | [
11076961,
15855230,
24141881
] | [
"MGI:1918771"
] | [
"RGD:1307094"
] | null | null | [
"613200"
] | null | 470,848 | null | null | null | null | HGNC:29088 | [
"ENST00000303538.13",
"NM_001100399.2"
] | null | 57a892dc-5464-4cfc-9924-2e9b7c5fec92 | null | null |
HGNC:3581 | BPTF | bromodomain PHD finger transcription factor | protein-coding gene | gene with protein product | Approved | 17q24.2 | [
"FAC1",
"NURF301"
] | null | [
"FALZ"
] | [
"fetal Alzheimer antigen"
] | [
"PHD finger proteins",
"Bromodomain containing",
"NURF complex"
] | [
88,
1232,
1363
] | 1996-10-30 | 2006-12-01 | 2006-12-01 | 2023-01-20 | 2186 | ENSG00000171634 | OTTHUMG00000132254 | uc002jgf.4 | [
"AY282495"
] | [
"NM_182641",
"NM_004459"
] | [
"CCDS11673"
] | [
"Q12830"
] | [
8975731,
10662542,
16728976
] | [
"MGI:2444008"
] | [
"RGD:1307039"
] | null | null | [
"601819"
] | null | null | null | objectId:2723 | null | null | HGNC:3581 | [
"ENST00000306378.11",
"NM_182641.4"
] | HGNC:3581 | 2c7f1ac2-490e-47bc-a10e-e6c97401abd2 | null | null |
HGNC:20473 | BRIP1 | BRCA1 interacting DNA helicase 1 | protein-coding gene | gene with protein product | Approved | 17q23.2 | [
"OF",
"BACH1",
"FANCJ"
] | [
"BRCA1/BRCA2-associated helicase 1",
"FANCJ helicase",
"BRCA1-associated C-terminal helicase",
"BRCA1 interacting protein 1"
] | null | [
"BRCA1 interacting helicase 1",
"BRCA1 interacting protein C-terminal helicase 1"
] | [
"DEAH-box helicases",
"FA complementation groups",
"BRCA1 B complex"
] | [
500,
548,
1335
] | 2003-04-11 | null | 2024-09-05 | 2024-09-05 | 83990 | ENSG00000136492 | OTTHUMG00000179233 | uc002izk.3 | [
"AF360549"
] | [
"NM_032043"
] | [
"CCDS11631"
] | [
"Q9BX63"
] | [
11595410,
11301010
] | [
"MGI:2442836"
] | [
"RGD:1307659"
] | [
"Fanconi Anaemia Mutation Database|http://www2.rockefeller.edu/fanconi/",
"Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/FANCJ",
"LRG_300|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_300.xml"
] | BRIP1 | [
"605882"
] | null | 119,080 | null | null | null | null | HGNC:20473 | [
"ENST00000259008.7",
"NM_032043.3"
] | HGNC:20473 | 4d16db18-b95a-4dd5-b3fe-843c20923303 | null | [
"This entry has the alias symbol BACH1 which is also the approved symbol for the unrelated gene [BACH1](https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:935)"
] |
HGNC:16356 | USH1G | USH1 protein network component sans | protein-coding gene | gene with protein product | Approved | 17q25.1 | [
"Sans",
"FLJ33924",
"ANKS4A"
] | null | null | [
"Usher syndrome 1G (autosomal recessive)"
] | [
"Ankyrin repeat domain containing",
"Sterile alpha motif domain containing"
] | [
403,
760
] | 2001-12-07 | null | 2016-02-17 | 2023-01-20 | 124590 | ENSG00000182040 | OTTHUMG00000178864 | uc032fra.2 | [
"AK091243"
] | [
"NM_173477"
] | [
"CCDS32725"
] | [
"Q495M9"
] | [
12588794
] | [
"MGI:2450757"
] | [
"RGD:1304551"
] | [
"CCHMC-BMI & UC Hearing Loss Mutation Database|https://research.cchmc.org/LOVD/home.php?select_db=USH1G",
"LRG_1416|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1416.xml"
] | null | [
"607696"
] | null | 120,442 | null | null | null | null | HGNC:16356 | [
"ENST00000614341.5",
"NM_173477.5"
] | HGNC:16356 | 9b1a4f34-dce9-4875-9191-cf024111b5c9 | null | null |
HGNC:25522 | WRAP53 | WD repeat containing antisense to TP53 | protein-coding gene | gene with protein product | Approved | 17p13.1 | [
"FLJ10385",
"TCAB1"
] | [
"telomerase cajal body protein 1",
"WD-encoding RNA antisense to p53"
] | [
"WDR79"
] | [
"WD repeat domain 79",
"WD repeat containing, antisense to TP53"
] | [
"WD repeat domain containing"
] | [
362
] | 2005-08-12 | 2009-02-16 | 2016-04-25 | 2023-01-20 | 55135 | ENSG00000141499 | OTTHUMG00000134323 | uc010vuh.2 | [
"AK001247",
"DQ431240"
] | [
"NM_018081"
] | [
"CCDS11119"
] | [
"Q9BUR4"
] | [
19179534,
19250907,
19571673,
19342896,
20494116,
21441950
] | [
"MGI:2384933"
] | [
"RGD:1359624"
] | [
"LRG_375|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_375.xml"
] | null | [
"612661"
] | null | 266,162 | null | null | null | null | HGNC:25522 | [
"ENST00000396463.7",
"NM_001143992.2"
] | HGNC:25522 | 956e0fc3-76d8-4b08-b166-94ce7b8b1b7b | null | null |
HGNC:10681 | SDHB | succinate dehydrogenase complex iron sulfur subunit B | protein-coding gene | gene with protein product | Approved | 1p36.13 | null | [
"iron-sulfur subunit of complex II",
"succinate dehydrogenase [ubiquinone] iron-sulfur subunit"
] | [
"SDH1",
"SDH"
] | [
"succinate dehydrogenase complex, subunit B, iron sulfur (Ip)",
"succinate dehydrogenase complex subunit B, iron sulfur (Ip)"
] | [
"Mitochondrial complex II: succinate dehydrogenase subunits"
] | [
641
] | 2001-06-22 | null | 2016-01-28 | 2023-01-20 | 6390 | ENSG00000117118 | OTTHUMG00000002289 | uc001bae.5 | [
"U17248"
] | [
"NM_003000"
] | [
"CCDS176"
] | [
"P21912"
] | null | [
"MGI:1914930"
] | [
"RGD:1308598"
] | [
"SDHB @ LOVD|http://www.LOVD.nl/SDHB",
"Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SDHB",
"LRG_316|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_316.xml"
] | SDHB | [
"185470"
] | null | 118,554 | null | null | null | [
"1.3.99.1"
] | HGNC:10681 | [
"ENST00000375499.8",
"NM_003000.3"
] | HGNC:10681 | ec70da14-9860-4a86-a9ff-cb8c76134b63 | null | null |
HGNC:25009 | UBE2T | ubiquitin conjugating enzyme E2 T | protein-coding gene | gene with protein product | Approved | 1q32.1 | [
"HSPC150",
"FANCT"
] | null | null | [
"ubiquitin-conjugating enzyme E2T"
] | [
"Ubiquitin conjugating enzymes E2",
"FA complementation groups"
] | [
102,
548
] | 2005-03-21 | null | 2016-03-14 | 2023-01-20 | 29089 | ENSG00000077152 | OTTHUMG00000041392 | uc001gxx.5 | [
"AF161499"
] | [
"NM_014176"
] | [
"CCDS1425"
] | [
"Q9NPD8"
] | [
11042152,
16916645,
26046368
] | [
"MGI:1914446"
] | [
"RGD:1310816"
] | [
"LRG_1169|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1169.xml"
] | null | [
"610538"
] | null | 432,157 | null | null | null | null | HGNC:25009 | [
"ENST00000646651.1",
"NM_014176.4"
] | HGNC:25009 | 61086eaa-b2c9-481d-9e82-e2453928b135 | null | null |
HGNC:30064 | PBRM1 | polybromo 1 | protein-coding gene | gene with protein product | Approved | 3p21.1 | [
"BAF180",
"PB1",
"SMARCH1"
] | null | null | null | [
"Bromodomain containing",
"PBAF complex subunits"
] | [
1232,
1605
] | 2007-03-29 | null | null | 2023-01-20 | 55193 | ENSG00000163939 | OTTHUMG00000152663 | uc003des.3 | [
"BC015323"
] | [
"NM_018165"
] | null | [
"Q86U86"
] | [
11078522,
11483580
] | [
"MGI:1923998"
] | [
"RGD:1565549"
] | null | PBRM1 | [
"606083"
] | null | 434,716 | null | objectId:2738 | null | null | HGNC:30064 | [
"ENST00000707071.1",
"NM_001405607.1"
] | null | a7a5adfd-bb04-4454-9bae-abcb2d299e18 | null | null |
HGNC:30298 | UIMC1 | ubiquitin interaction motif containing 1 | protein-coding gene | gene with protein product | Approved | 5q35.2 | [
"RAP80"
] | [
"receptor associated protein 80"
] | null | null | [
"BRCA1 A complex"
] | [
1328
] | 2006-10-27 | null | null | 2023-01-20 | 51720 | ENSG00000087206 | OTTHUMG00000130852 | uc063kao.1 | [
"AF349313"
] | [
"NM_016290"
] | [
"CCDS4408",
"CCDS83050"
] | [
"Q96RL1"
] | [
12080054,
19015238
] | [
"MGI:103185"
] | [
"RGD:1307009"
] | null | null | [
"609433"
] | null | null | null | null | null | null | HGNC:30298 | [
"ENST00000511320.6",
"NM_001199298.2"
] | HGNC:30298 | c65f2545-628a-4b28-957d-c2ad01415dc4 | null | null |
HGNC:25628 | DDX19A | DEAD-box helicase 19A | protein-coding gene | gene with protein product | Approved | 16q22.1 | [
"FLJ11126"
] | null | [
"DDX19L"
] | [
"DEAD (Asp-Glu-Ala-As) box polypeptide 19-like",
"DEAD (Asp-Glu-Ala-Asp) box polypeptide 19A"
] | [
"DEAD-box helicases"
] | [
499
] | 2004-11-03 | 2005-07-13 | 2016-01-07 | 2023-01-20 | 55308 | ENSG00000168872 | OTTHUMG00000137579 | uc002eyv.4 | [
"AF183422"
] | [
"NM_018332"
] | [
"CCDS10889",
"CCDS82009"
] | [
"Q9NUU7"
] | [
26538395
] | [
"MGI:99526"
] | [
"RGD:1303136"
] | null | null | null | null | null | null | null | null | null | HGNC:25628 | [
"ENST00000302243.12",
"NM_018332.5"
] | null | bbecc48f-1c66-4a76-a364-f1a2152f9faf | null | null |
HGNC:18037 | ARID2 | AT-rich interaction domain 2 | protein-coding gene | gene with protein product | Approved | 12q12 | [
"KIAA1557",
"DKFZp686G052",
"FLJ30619",
"BAF200",
"SMARCF3",
"ZIPZAP",
"p200"
] | null | null | [
"AT rich interactive domain 2 (ARID, RFX-like)"
] | [
"AT-rich interaction domain containing",
"Armadillo like helical domain containing",
"PBAF complex subunits"
] | [
418,
1492,
1605
] | 2004-01-28 | null | 2015-11-17 | 2023-07-12 | 196528 | ENSG00000189079 | OTTHUMG00000150487 | uc001ros.2 | [
"DQ096628"
] | [
"NM_152641"
] | [
"CCDS31783"
] | [
"Q68CP9"
] | [
16782067,
21822264,
22184115
] | [
"MGI:1924294"
] | [
"RGD:1311105"
] | null | ARID2 | [
"609539"
] | null | 469,962 | null | null | null | null | HGNC:18037 | [
"ENST00000334344.11",
"NM_152641.4"
] | HGNC:18037 | 3424ec6a-36b4-40b5-bb03-75313a4fc445 | null | null |
HGNC:15531 | EBNA1BP2 | EBNA1 binding protein 2 | protein-coding gene | gene with protein product | Approved | 1p34.2 | [
"NOBP",
"EBP2",
"P40"
] | null | null | [
"EBNA1-binding protein 2"
] | [
"MicroRNA protein coding host genes"
] | [
1691
] | 2001-10-16 | null | 2001-11-28 | 2023-01-20 | 10969 | ENSG00000117395 | OTTHUMG00000007284 | uc001cin.4 | [
"U86602"
] | [
"NM_001159936"
] | [
"CCDS478",
"CCDS53308"
] | [
"Q99848"
] | [
10074103,
11438656
] | [
"MGI:1916322"
] | [
"RGD:1305762"
] | null | null | [
"614443"
] | null | null | null | null | null | null | HGNC:15531 | [
"ENST00000236051.3",
"NM_006824.3"
] | null | f1c19122-8546-4bba-9a35-b0e64c780cff | null | null |
HGNC:950 | BAP1 | BRCA1 associated deubiquitinase 1 | protein-coding gene | gene with protein product | Approved | 3p21.1 | [
"hucep-6",
"KIAA0272",
"UCHL2"
] | [
"ubiquitin carboxy-terminal hydrolase L2"
] | null | [
"BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)",
"BRCA1 associated protein 1"
] | [
"Ubiquitin C-terminal hydrolases"
] | [
998
] | 1998-09-17 | null | 2024-07-04 | 2024-07-04 | 8314 | ENSG00000163930 | OTTHUMG00000158392 | uc003ddx.5 | [
"AF045581"
] | [
"NM_001410772"
] | [
"CCDS2853",
"CCDS93284"
] | [
"Q92560"
] | [
9528852,
19117993,
37009801
] | [
"MGI:1206586"
] | [
"RGD:1311938"
] | [
"LRG_529|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_529.xml"
] | BAP1 | [
"603089"
] | null | 289,543 | C12.004 | objectId:2332 | null | [
"3.4.19.12"
] | HGNC:950 | [
"ENST00000460680.6",
"NM_004656.4"
] | HGNC:950 | 7892f77f-9288-4878-86e0-14be27a6981c | null | [
"This entry has the approved symbol BAP1 which is also an alias symbol for the unrelated genes [MAGI1](https://genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:946) and [RNF2](https://genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10061)"
] |
HGNC:18380 | BZW1 | basic leucine zipper and W2 domains 1 | protein-coding gene | gene with protein product | Approved | 2q33.1 | [
"BZAP45",
"KIAA0005",
"5MP2"
] | [
"eIF5-mimic protein 2"
] | null | null | null | null | 2002-08-05 | null | null | 2023-01-20 | 9689 | ENSG00000082153 | OTTHUMG00000154560 | uc002uwc.4 | [
"D13630"
] | [
"NM_014670"
] | null | [
"Q7L1Q6"
] | [
10964520,
11524015,
27325740,
29470543
] | [
"MGI:1914132"
] | [
"RGD:735129"
] | null | null | [
"619252"
] | null | null | null | null | null | null | HGNC:18380 | [
"ENST00000409600.6",
"NM_001207067.2"
] | null | 4dafb471-6cd6-4393-b1f0-247bcfb8221c | null | null |
HGNC:13516 | BIRC6 | baculoviral IAP repeat containing 6 | protein-coding gene | gene with protein product | Approved | 2p22.3 | [
"BRUCE"
] | [
"apollon"
] | null | [
"baculoviral IAP repeat-containing 6"
] | [
"Ubiquitin conjugating enzymes E2",
"Baculoviral IAP repeat containing",
"MicroRNA protein coding host genes"
] | [
102,
419,
1691
] | 2000-09-19 | null | 2011-01-25 | 2023-01-20 | 57448 | ENSG00000115760 | OTTHUMG00000150528 | uc010ezu.4 | [
"AF265555"
] | [
"NM_016252"
] | [
"CCDS33175"
] | [
"Q9NR09"
] | [
10544019
] | [
"MGI:1276108"
] | [
"RGD:1307247"
] | null | null | [
"605638"
] | null | null | I32.006 | objectId:2796 | null | null | HGNC:13516 | [
"ENST00000421745.7",
"NM_016252.4"
] | null | 2f1f1ebe-bf06-4ac2-89d7-34fc2c1ee83b | null | null |
HGNC:18329 | YPEL5 | yippee like 5 | protein-coding gene | gene with protein product | Approved | 2p23.1 | [
"CGI-127"
] | null | null | [
"yippee-like 5 (Drosophila)"
] | [
"Yippee like family"
] | [
1130
] | 2004-06-28 | null | 2015-11-05 | 2023-01-20 | 51646 | ENSG00000119801 | OTTHUMG00000097839 | uc002rna.5 | [
"AF135161"
] | [
"NM_016061"
] | [
"CCDS1771"
] | [
"P62699"
] | [
15556292
] | [
"MGI:1916937"
] | [
"RGD:1309657"
] | null | null | [
"609726"
] | null | null | null | null | null | null | HGNC:18329 | [
"ENST00000261353.9",
"NM_016061.3"
] | null | aa2a0171-72f1-40aa-a49c-f7d8352b96a0 | null | null |
HGNC:18752 | MAPKAP1 | MAPK associated protein 1 | protein-coding gene | gene with protein product | Approved | 9q33.3 | [
"MGC2745",
"SIN1",
"MIP1"
] | [
"stress-activated protein kinase-interacting 1"
] | null | [
"mitogen-activated protein kinase associated protein 1"
] | [
"MTOR complex 2"
] | [
1333
] | 2002-07-19 | null | 2019-04-12 | 2023-01-20 | 79109 | ENSG00000119487 | OTTHUMG00000020683 | uc004bpv.3 | [
"M37191"
] | [
"NM_001006617"
] | null | [
"Q9BPZ7"
] | [
15363842
] | [
"MGI:2444554"
] | [
"RGD:1305363"
] | null | null | [
"610558"
] | null | null | null | null | null | null | HGNC:18752 | [
"ENST00000265960.8",
"NM_001006617.3"
] | null | 02f8804d-e59d-4231-9bf9-53a26e06191c | null | null |
HGNC:2867 | DHODH | dihydroorotate dehydrogenase (quinone) | protein-coding gene | gene with protein product | Approved | 16q22.2 | null | null | null | [
"dihydroorotate dehydrogenase"
] | [
"Flavoproteins"
] | [
2258
] | 1993-06-29 | null | 2011-09-05 | 2023-01-20 | 1723 | ENSG00000102967 | OTTHUMG00000178093 | uc002fbp.4 | null | [
"NM_001361"
] | [
"CCDS42192"
] | [
"Q02127"
] | [
8211381
] | [
"MGI:1928378"
] | [
"RGD:68352"
] | null | null | [
"126064"
] | null | 225,386 | null | objectId:2604 | null | [
"1.3.5.2"
] | HGNC:2867 | [
"ENST00000219240.9",
"NM_001361.5"
] | HGNC:2867 | e902248d-33d9-4655-a763-3860521e0c4e | null | null |
HGNC:28349 | RMI2 | RecQ mediated genome instability 2 | protein-coding gene | gene with protein product | Approved | 16p13.13 | [
"MGC24665",
"BLAP18"
] | null | [
"C16orf75"
] | [
"chromosome 16 open reading frame 75",
"RMI2, RecQ mediated genome instability 2, homolog (S. cerevisiae)"
] | null | null | 2006-07-04 | 2011-06-09 | 2013-06-10 | 2023-01-20 | 116028 | ENSG00000175643 | OTTHUMG00000129793 | uc059quq.1 | [
"AK123764"
] | [
"NM_152308"
] | [
"CCDS10548"
] | [
"Q96E14"
] | [
18923083,
20826341
] | [
"MGI:2685383"
] | [
"RGD:1563163"
] | null | RMI2 | [
"612426"
] | null | null | null | null | null | null | HGNC:28349 | [
"ENST00000312499.6",
"NM_152308.3"
] | null | 5e23b446-d355-4a95-9899-faadd6fefcce | null | null |
HGNC:11427 | STUB1 | STIP1 homology and U-box containing protein 1 | protein-coding gene | gene with protein product | Approved | 16p13.3 | [
"UBOX1",
"CHIP",
"SDCCAG7",
"HSPABP2",
"NY-CO-7"
] | null | null | null | [
"U-box domain containing",
"Tetratricopeptide repeat domain containing"
] | [
365,
769
] | 1999-11-25 | null | 2016-03-23 | 2023-01-20 | 10273 | ENSG00000103266 | OTTHUMG00000121140 | uc002cit.4 | [
"AF039689"
] | [
"NM_005861"
] | [
"CCDS10419",
"CCDS76797"
] | [
"Q9UNE7"
] | [
10330192,
9610721
] | [
"MGI:1891731"
] | [
"RGD:1306167"
] | null | null | [
"607207"
] | null | 395,106 | null | objectId:3202 | null | null | HGNC:11427 | [
"ENST00000219548.9",
"NM_005861.4"
] | HGNC:11427 | e3e1e1d8-561d-493b-af33-857043aa16dc | null | null |
HGNC:7773 | NF2 | NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor | protein-coding gene | gene with protein product | Approved | 22q12.2 | [
"merlin",
"ACN",
"SCH",
"BANF",
"merlin-1"
] | [
"moesin-ezrin-radixin like",
"schwannomin",
"bilateral acoustic neurofibromatosis"
] | null | [
"neurofibromin 2 (bilateral acoustic neuroma)",
"neurofibromin 2 (merlin)"
] | [
"A-kinase anchoring proteins",
"FERM domain containing"
] | [
396,
1293
] | 1992-01-01 | null | 2021-10-07 | 2023-03-15 | 4771 | ENSG00000186575 | OTTHUMG00000030727 | uc003age.5 | [
"L11353"
] | [
"NM_000268"
] | null | [
"P35240"
] | [
10591208
] | [
"MGI:97307"
] | [
"RGD:3169"
] | [
"Neurofibromatosis 2 (NF2) mutation database|http://www.hgmd.cf.ac.uk/nf2/",
"LRG_511|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_511.xml"
] | NF2 | [
"607379"
] | null | 123,774 | null | null | null | null | HGNC:7773 | [
"ENST00000338641.10",
"NM_000268.4"
] | HGNC:7773 | c1330781-7b55-4cd0-9aee-402272bb9d0f | null | null |
Dataset Card for Synthetic Lethal Tumor Suppressor Genes (SL TSG)
This dataset was created with the goal of providing cancer researchers and bioinformaticians with a comprehensive resource for studying synthetic lethality in tumor suppressor genes (TSGs). By identifying genetic interactions that lead to cancer cell death when both a tumor suppressor gene and its synthetic lethal partner are mutated or deactivated, this dataset aims to support the development of novel cancer therapeutics.
It is currently a highly filtered list of ~90 genes and intended to be used in combination with the dwb2023/pmc_35559673_table_s6 dataset.
In creating this dataset, we are grateful for the rich, publicly available data curated by the HUGO Gene Nomenclature Committee (HGNC). Their dedication to maintaining high-quality gene data has been instrumental to this work.
Dataset Details
Dataset Description
This dataset consists of curated information on synthetic lethal interactions involving tumor suppressor genes. The fields in this dataset include gene symbols, gene IDs, and additional metadata sourced from public bioinformatics databases, including HGNC, ENSEMBL, NCBI Entrez, and others. Researchers can leverage this dataset to study gene-gene interactions in cancer biology, particularly those that lead to synthetic lethality, an emerging therapeutic strategy in cancer treatment.
We would like to acknowledge HGNC as the primary source of the gene nomenclature and ID data used in this dataset. HGNC provides freely accessible gene data under the Creative Commons Public Domain (CC0) license. While attribution is not required, we believe in giving credit to the dedicated curators who make such valuable resources available.
Dataset Sources
- Source File: HGNC Complete Set JSON
- Paper: Genenames.org: the HGNC resources in 2023 by Ruth L. Seal, et al.
Uses
Direct Use
This dataset is primarily intended for use in cancer research. Specifically, it supports the study of synthetic lethal interactions involving tumor suppressor genes, helping researchers:
- Identify potential therapeutic targets in cancer cells harboring TSG mutations.
- Explore gene-gene dependencies that may reveal vulnerabilities in cancer cells.
- Integrate synthetic lethal interactions with other cancer data to guide precision medicine.
Out-of-Scope Use
- This dataset is not designed for clinical decision-making or to predict individual genetic predispositions to diseases.
- Using the dataset for commercial purposes without proper validation and clinical trials is discouraged.
Dataset Structure
The dataset contains the following fields, each of which is essential for understanding the synthetic lethal interactions and genetic relationships in cancer:
Field Name | Description |
---|---|
hgnc_id | HGNC ID. A unique ID created by the HGNC for every approved symbol. |
symbol | The HGNC approved gene symbol. Equates to the "Approved symbol" field within the gene symbol report. |
name | HGNC approved name for the gene. Equates to the "Approved name" field within the gene symbol report. |
locus_group | A group name for a set of related locus types as defined by the HGNC (e.g. non-coding RNA). |
locus_type | The locus type as set by the HGNC. |
status | Status of the symbol report, which can be either "Approved" or "Entry Withdrawn". |
location | Cytogenetic location of the gene (e.g. 2q34). |
alias_symbol | Other symbols used to refer to this gene as seen in the "Alias symbols" field in the gene symbol report. |
alias_name | Other names used to refer to this gene as seen in the "Alias names" field in the gene symbol report. |
prev_symbol | Gene symbols previously approved by the HGNC for this gene. Equates to the "Previous symbols" field within the gene symbol report. |
prev_name | Gene names previously approved by the HGNC for this gene. Equates to the "Previous names" field within the gene symbol report. |
gene_group | The gene group name as set by the HGNC and seen at the top of the gene group reports. |
gene_group_id | ID used to designate a gene group the gene has been assigned to. |
date_approved_reserved | The date the entry was first approved. |
date_symbol_changed | The date the approved symbol was last changed. |
date_name_changed | The date the approved name was last changed. |
date_modified | Date the entry was last modified. |
entrez_id | NCBI gene ID. Found within the "Gene resources" section of the gene symbol report. |
ensembl_gene_id | Ensembl gene ID. Found within the "Gene resources" section of the gene symbol report. |
vega_id | Vega gene ID. Found within the "Gene resources" section of the gene symbol report. |
ucsc_id | UCSC gene ID. Found within the "Gene resources" section of the gene symbol report. |
ena | International Nucleotide Sequence Database Collaboration (GenBank, ENA and DDBJ) accession number(s). Found within the "Nucleotide resources" section of the gene symbol report. |
refseq_accession | RefSeq nucleotide accession(s). Found within the "Nucleotide resources" section of the gene symbol report. |
ccds_id | Consensus CDS ID. Found within the "Nucleotide resources" section of the gene symbol report. |
uniprot_ids | UniProt protein accession. Found within the "Protein resource" section of the gene symbol report. |
pubmed_id | Pubmed and Europe Pubmed Central PMID(s). |
mgd_id | Mouse genome informatics database ID. Found within the "Homologs" section of the gene symbol report. |
rgd_id | Rat genome database gene ID. Found within the "Homologs" section of the gene symbol report. |
lsdb | The name of the Locus Specific Mutation Database and URL for the gene separated by a |
cosmic | Symbol used within the Catalogue of somatic mutations in cancer for the gene. (No longer updated!). |
omim_id | Online Mendelian Inheritance in Man (OMIM) ID |
bioparadigms_slc | Symbol used to link to the SLC tables database at bioparadigms.org for the gene |
orphanet | Orphanet ID |
merops | ID used to link to the MEROPS peptidase database |
iuphar | The objectId used to link to the IUPHAR/BPS Guide to PHARMACOLOGY database. |
cd | Symbol used within the Human Cell Differentiation Molecule database for the gene |
enzyme_id | ENZYME EC accession number |
agr | The HGNC ID that the Alliance of Genome Resources (AGR) have linked to their record of the gene. |
mane_select | NCBI and Ensembl transcript IDs/acessions including the version number for one high-quality representative transcript per protein-coding gene. |
gencc | The HGNC ID used within the GenCC database as the unique identifier of their gene reports within the GenCC database. |
uuid | Unique identifier (not in original description, but present in the JSON list) |
rna_central_id | RNA Central ID (not in original description, but present in the JSON list) |
curator_notes | Curator notes (not in original description, but present in the JSON list) |
Dataset Creation
Curation Rationale
The curation of this dataset was driven by a need for a well-organized, comprehensive source of synthetic lethal interactions in tumor suppressor genes. These relationships offer a promising avenue for cancer therapies that specifically target cancer cells, leaving healthy cells unaffected.
Source Data
Data Collection and Processing
The data was collected from multiple publicly available sources, including:
- HGNC: Providing gene nomenclature and IDs.
- ENSEMBL: Offering curated genomic annotations.
- NCBI Entrez: Supplying cross-referenced gene IDs.
Data was processed to ensure consistency across gene symbols and IDs, with normalization steps applied to ensure accuracy and usability in bioinformatics workflows.
Who are the source data producers?
- HGNC (HUGO Gene Nomenclature Committee): Providing standardized gene symbols and IDs (https://www.genenames.org/)
- ENSEMBL: Offering detailed genome annotations (https://www.ensembl.org/)
- NCBI Entrez: Supplying gene-related data (https://www.ncbi.nlm.nih.gov/gene/)
Annotations [optional]
No manual annotations were added to the dataset.
Bias, Risks, and Limitations
Recommendations
This dataset is intended for research purposes only. Users should be aware that synthetic lethal interactions are still under active research, and many interactions need experimental validation. Users are encouraged to critically evaluate the dataset before applying it in any therapeutic development context.
Citation
Please cite the original dataset using the following format:
BibTeX:
@article{10.1093/nar/gkac888,
author = {Seal, Ruth L and Braschi, Bryony and Gray, Kristian and Jones, Tamsin E M and Tweedie, Susan and Haim-Vilmovsky, Liora and Bruford, Elspeth A},
title = "{Genenames.org: the HGNC resources in 2023}",
journal = {Nucleic Acids Research},
volume = {51},
number = {D1},
pages = {D1003-D1009},
year = {2022},
month = {10},
abstract = "{The HUGO Gene Nomenclature Committee (HGNC) assigns unique symbols and names to human genes. The HGNC database (www.genenames.org) currently contains over 43 000 approved gene symbols, over 19 200 of which are assigned to protein-coding genes, 14 000 to pseudogenes and nearly 9000 to non-coding RNA genes. The public website, www.genenames.org, displays all approved nomenclature within Symbol Reports that contain data curated by HGNC nomenclature advisors and links to related genomic, clinical, and proteomic information. Here, we describe updates to our resource, including improvements to our search facility and new download features.}",
issn = {0305-1048},
doi = {10.1093/nar/gkac888},
url = {https://doi.org/10.1093/nar/gkac888},
eprint = {https://academic.oup.com/nar/article-pdf/51/D1/D1003/48441239/gkac888.pdf},
}
Dataset Card Authors
- Author: dwb2023
Dataset Card Contact
- Contact: dwb2023
This card now includes proper attribution for HGNC and other contributors, aligning with their recommendations for proper citation and respecting their curation efforts. Let me know if there are any final adjustments!
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