Fig. 4.

Example genes with variant class and phenotype-specific DNV pattern. Linear protein diagrams are present with size and exons split by vertical dashed lines. Domains are indicated in color blocks with a short description; the total number of dnLGD (red) and dnMIS (blue) variants for each gene was also provided. Recurrent DNVs are indicated by larger circles with the number of recurrences inside. Number of samples plotted: ASD (n = 15,560) and DD (n = 31,052). (A) GATAD2B with DNVs exclusively in DD patients and enriched for dnLGD variants. (B) KIF1A only has dnMIS variants and are exclusively in DD patients. (C) PPM1D only has dnLGD variants and are exclusively in DD patients. (D) CHD8, (E) KDM5B, and (F) WDYF3 have dnLGD and dnMIS variants in both DD and ASD patients, although no phenotype-specific significance, but tend to have more DNVs in ASD than in DD patients when considering the sample size.