Additional file 1 of Database-assisted screening of autism spectrum disorder related gene set
Creators: name: Kereszturi, Éva
Publisher: name: figshare
Year: 2024
Subjects: subject: Genetics
subject: FOS: Biological sciences

description: Additional file 1: Figure S1. GOBP and OMIM Disease GSEA of ASD-related genes selected exclusively from the ClinVar database, and hierarchical clustering and network analysis of enriched GOBPs. GSEA of the 168 ASD genes identified in ClinVar for GOBPs (A), and their hierarchical clustering (B) and network analysis (C). The hierarchical clustering tree summarizes the correlation among significant pathways. In network analysis two nodes are connected if they share 20% or more genes. Darker nodes are more significantly enriched gene sets. Bigger nodes represent larger gene sets. Thicker edges represent more overlapped genes. D GSEA of the 168 ASD genes identified in ClinVar for OMIM Disease database. For each GSEA performed, the FDR threshold was reduced to 0.01, and only the first 10 significant hits selected by the FDR and sorted by FE were considered. Figure S2. GOBP and OMIM Disease GSEA of ASD-related genes selected exclusively from the SFARI Gene database, and hierarchical clustering and network analysis of enriched GOBPs. GSEA of the 146 ASD genes identified in SFARI Gene for GOBPs (A), and their hierarchical clustering (B) and network analysis (C). The hierarchical clustering tree summarizes the correlation among significant pathways. In network analysis two nodes are connected if they share 20% or more genes. Darker nodes are more significantly enriched gene sets. Bigger nodes represent larger gene sets. Thicker edges represent more overlapped genes. D GSEA of the 146 ASD genes identified in SFARI Gene for OMIM Disease database. For each GSEA performed, the FDR threshold was reduced to 0.01, and only the first 10 significant hits selected by the FDR and sorted by FE were considered. Figure S3. GOBP and OMIM Disease GSEA of ASD-related genes selected exclusively from the AutDB database, and hierarchical clustering and network analysis of enriched GOBPs. GSEA of the 201 ASD genes identified in AutDB for GOBPs (A), and their hierarchical clustering (B) and network analysis (C). The hierarchical clustering tree summarizes the correlation among significant pathways. In network analysis two nodes are connected if they share 20% or more genes. Darker nodes are more significantly enriched gene sets. Bigger nodes represent larger gene sets. Thicker edges represent more overlapped genes. D GSEA of the 201 ASD genes identified in AutDB for OMIM Disease database. For each GSEA performed, the FDR threshold was reduced to 0.01, and only the first 10 significant hits selected by the FDR and sorted by FE were considered. Table S1. Case numbers of genetic variation types of the 20 shared genes for the “Variation length” dimension from ClinVar and AutDB, with p and adjusted p-values for the given genes. Adjusted p-values less than 0.05 are highlighted in bold italics. Table S2. Case numbers of genetic variation types of the 20 shared genes for the “Time of origin” dimension from ClinVar and AutDB, with p and adjusted p-values for the given genes. Adjusted p-values less than 0.05 are highlighted in bold italics. Table S3. Case numbers of genetic variation types of the 20 shared genes for the “Molecular Consequence” dimension from ClinVar and AutDB, with p and adjusted p-values for the given genes. Adjusted p-values less than 0.05 are highlighted in bold italics.