PMC:4067558 / 51883-53561 JSONTXT

{"target":"https://pubannotation.org/docs/sourcedb/PMC/sourceid/4067558","sourcedb":"PMC","sourceid":"4067558","source_url":"https://www.ncbi.nlm.nih.gov/pmc/4067558","text":"Genes Affected by CNVs and SNVs Converge on Functional Gene Networks\n(A) Venn diagram showing the overview of 151 genes resulting from a DAPPLE analysis of 336 unique genes. A similar diagram of DAPPLE input genes is shown in Figure S5. For the DAPPLE analysis, we compiled the following lists of genes: (1) 113 genes identified from our de novo CNVs by NETBAG; (2) 122 genes with de novo LoF SNVs from four published exome sequencing studies;7–10 (3) 31 genes with hemizygous LoF SNVs on the X chromosome of male ASD subjects and not observed in male control subjects;16 and (4) 92 ASD-implicated genes previously described as autosomal dominant, X-linked dominant, or X-linked recessive in males.18\n(B) A DAPPLE network of 151 genes (Table S15) from the genes in (A) shows direct interactions between associated proteins according to the InWeb database. Nodes represent genes and are colored according to gene-set membership depicted in (A): genes identified from our de novo CNVs by NETBAG (red nodes), genes affected by de novo LoF SNVs from published exome sequencing studies (blue nodes), genes affected by hemizygous LoF SNVs on the X chromosome of males (white nodes), and genes known to be implicated in ASD (yellow nodes). Other node colors (orange, purple, green, dark yellow, or dark purple) correspond to genes present in two or more lists. Edges represent significant direct protein-protein interactions (as defined by a common interactor binding degree of 2) in the InWeb database. Shaded ovals represent enriched biological functions common among 10% or more genes in the network, and their colors represent functional themes shared among Figures 4A, 4B, and 5B.","divisions":[{"label":"p","span":{"begin":0,"end":68}},{"label":"p","span":{"begin":69,"end":700}}],"tracks":[]}