Figure 2.

Bioinformatic analyses performed on ASD-candidate genes encompassed by C-CNVs. (A) A Core analysis run in Variant Effects Analysis mode using the Ingenuity Pathway Analysis software figured out cellular processes related to our gene dataset (21 genes) generating a functional network encompassing 11 genes (in red). Synaptic transmission resulted the most significant functional annotation (p-value 6.05 × 10⁻⁹). Bridging nodes (in white) were denoted evaluating both direct and indirect interactions related only to neurological diseases and with stringent level of confidence (B). Gene ontology (GO) categorization was carried out using ToppGene Suite. Top three ontologies for Molecular Function (dark grey) and Cellular Component (light grey) were annotated; statistical significance of GO terms was reported as −log10 (p-value). The number of genes belonging to each category was reported on the right of each bar.