Functional ASD Maps
(A) Gene-set enrichment for rare exonic deletions (de novo and inherited) in affected versus control subjects. Enrichment results were mapped as a network of gene sets (nodes) related by mutual overlap (edges). Node size is proportional to the gene-set size, and edge thickness scales with the number of genes overlapping between sets. Only gene sets enriched in affected subjects with a FDR ≤ 20% are shown; gene sets are colored by different red intensity scales on the basis of their FDR. The node stroke color (orange or purple) indicates whether the gene set is also enriched with genes known to cause ASD and/or ID. Groups of functionally related gene sets are circled and labeled (groups are filled green or blue circles; subgroups are dashed lines), and the functions of prominent clusters are shown.
(B) Network of genes affected by rare de novo CNVs in affected subjects. Shown are NETBAG results from the analysis of 102 rare de novo CNVs (11 large de novo chromosome abnormalities were not considered; Table S1C), representing 75 nonredundant genic CNV regions. Nodes in the network correspond to genes, and edges correspond to interactions. Node sizes are proportional to the gene’s contribution to the overall cluster score. Edge widths are proportional to the prior likelihood that the two corresponding genes contribute to a shared genetic phenotype. Nodes are colored on the basis of whether genes show prenatal- or postnatal-biased brain expression, or have no biased expression, in an analysis of 12 developmental stages of the BrainSpan data set (Figure S4). Shaded ovals represent enriched biological functions (Tables S14A–S14E), and their colors represent functional themes shared among Figures 4A, 4B, and 5B.