Additional file 2 of Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders
Creators: name: Gillentine, Madelyn A.
name: Wang, Tianyun
name: Hoekzema, Kendra
name: Rosenfeld, Jill
name: Liu, Pengfei
name: Guo, Hui
name: Kim, Chang N.
name: De Vries, Bert B. A.
name: Vissers, Lisenka E. L. M.
name: Nordenskjold, Magnus
name: Kvarnung, Malin
name: Lindstrand, Anna
name: Nordgren, Ann
name: Gecz, Jozef
name: Iascone, Maria
name: Cereda, Anna
name: Scatigno, Agnese
name: Maitz, Silvia
name: Zanni, Ginevra
name: Bertini, Enrico
name: Zweier, Christiane
name: Schuhmann, Sarah
name: Wiesener, Antje
name: Pepper, Micah
name: Panjwani, Heena
name: Torti, Erin
name: Abid, Farida
name: Anselm, Irina
name: Srivastava, Siddharth
name: Atwal, Paldeep
name: Bacino, Carlos A.
name: Bhat, Gifty
name: Cobian, Katherine
name: Bird, Lynne M.
name: Friedman, Jennifer
name: Wright, Meredith S.
name: Callewaert, Bert
name: Petit, Florence
name: Mathieu, Sophie
name: Afenjar, Alexandra
name: Christensen, Celenie K.
name: White, Kerry M.
name: Elpeleg, Orly
name: Berger, Itai
name: Espineli, Edward J.
name: Fagerberg, Christina
name: Brasch-Andersen, Charlotte
name: Hansen, Lars Kjærsgaard
name: Feyma, Timothy
name: Hughes, Susan
name: Thiffault, Isabelle
name: Sullivan, Bonnie
name: Yan, Shuang
name: Keller, Kory
name: Keren, Boris
name: Mignot, Cyril
name: Kooy, Frank
name: Meuwissen, Marije
name: Basinger, Alice
name: Kukolich, Mary
name: Philips, Meredith
name: Ortega, Lucia
name: Drummond-Borg, Margaret
name: Lauridsen, Mathilde
name: Sorensen, Kristina
name: Lehman, Anna
name: Lopez-Rangel, Elena
name: Levy, Paul
name: Lessel, Davor
name: Lotze, Timothy
name: Madan-Khetarpal, Suneeta
name: Sebastian, Jessica
name: Vento, Jodie
name: Vats, Divya
name: Benman, L. Manace
name: Mckee, Shane
name: Mirzaa, Ghayda M.
name: Muss, Candace
name: Pappas, John
name: Peeters, Hilde
name: Romano, Corrado
name: Elia, Maurizio
name: Galesi, Ornella
name: Simon, Marleen E. H.
name: van Gassen, Koen L. I.
name: Simpson, Kara
name: Stratton, Robert
name: Syed, Sabeen
name: Thevenon, Julien
name: Palafoll, Irene Valenzuela
name: Vitobello, Antonio
name: Bournez, Marie
name: Faivre, Laurence
name: Xia, Kun
name: Earl, Rachel K.
name: Nowakowski, Tomasz
name: Bernier, Raphael A.
name: Eichler, Evan E.
Publisher: name: figshare
Year: 2021
Subjects: subject: Genetics
subject: FOS: Biological sciences

description: Additional file 2: Supplementary Figures S1-S5. Fig. S1. Dendrogram of hnRNPs based on multiple sequence alignment of canonical amino acid sequences. Colors match those seen in Fig. 2. NDD hnRNPs are shown in black boxes. Fig. S2. Pathogenicity assessment of variation in hnRNPs. A) Gene Variation Intolerance Ranking (GeVIR), loss-of-function observed/expected upper bound fraction (LOEUF), and Variation Intolerant Region Loss-of-Function (VIRLoF) percentiles. Average LOEUF percentile is significantly higher for NDD HNRNPs (n = 13) compared to other HNRNPs (n = 15). B) Average fold change for GeVIR, LEOUF, and VIRLoF for autosomal dominant (AD) and autosomal recessive (AR) variants. Average LEOUF fold change for AD mutations is significantly higher for NDD HNRNPs compared to other HNRNPs, with the AD VIRLoF fold change trending in the same direction. The AR LEOUF fold change is trending towards being significantly higher among other HNRNPs compared to NDD HNRNPs. One-way t-test. * p &lt; 0.05. Fig. S3. Expression of HNRNPs among adult tissues and the developing human cortex. A) Heatmap of all HNRNP expression in developing cortex tissues. B) Comparison of fold expression of NDD HNRNPs to non-NDD HNRNPs. C) Heatmap of all HNRNP expression (transcript level expression) in adult brain tissues from GTEx. D) Heatmap of NDD HNRNP expression (transcript level expression) in all tissues from GTEx. Fig. S4. Phenotypic correlations for LGD and missense variant probands. A) Correlation matrix of phenotypes across HNRNP probands with LGD variation (genes with only missense variation excluded) and B) severe missense variation (genes with only LGD variation excluded. * p &lt; 0.05; ** p &lt; 0.01; *** p &lt; 0.001; **** p &lt; 0.0001. Fig. S5. Phenotypic comparisons between LGD and missense variants by HNRNP. Fig. S6. GTEx expression of NDD HNRNPs and genes associated with similarly presenting disorders.