Figure 5

Genomic location and specificity of the unique differentially methylated regions in ASD with CHD8 variants. Genomic location on Euchromatic Histone Lysine Methyltransferase 2 (EHMT2) (a), Caspase 1 (CASP1) (b) and Ubiquitin Specific Peptidase 18 (USP18) (c): blue line represents hypomethylation, the red line represents hypermethylation. The receiver operating characteristic (ROC) analysis of the unique differentially methylated regions of ASD with CHD8 variants (n = 15) was performed against non-ASD (n = 48) and ASD with 16p11.2 deletion (n = 7). Specificity and sensitivity of the unique differentially methylated regions for EHMT2 (d), CASP1 (e) and USP18 (f).