Figure 4.

NDD DMRs are enriched for both shared and distinct gene ontologies. NDD DMRs were analyzed for GO term enrichment using gene identifiers for hg38 Ensembl genes with a 10 kb extension up- and downstream of the gene start and end sites, respectively. All comparisons were performed with a hypergeometric test and FDR corrected to P < 0.05 (see Table S6 for statistics). (A) Significantly enriched GO terms shared across all 3 NDD DMRs. (B) Top significantly (by FDR P-value) enriched GO terms shared by RTT and Dup15q DMRs. These terms did not reach significance for ASD DMRs. (C) Top significant GO terms that were unique to Dup15q DMRs. (D) Top GO terms that were unique to RTT DMRs. See Supplementary Table S6 for details and statistics.