Figure 5.

The enrichment of our ASD and ID gene risk rankings in various disease-related gene lists

The enrichment of our ASD and ID gene risk rankings in various disease-related gene lists (i.e., each panel) are shown: (1) ASD- and/or ID-related transcription regulators, (2) ASD- and/or ID-related pathways, and (3) ASD- and/or ID-related biological functions or protein complexes. While these do not fully contain ground-truth genes, they have been indicated in the literature as being enriched with risk genes for either disorder. Percentage of genes in the corresponding gene set (x axis) that occurred within each decile of the genome-wide risk ranking per ASD (blue) and ID (yellow) are shown. The gene sets used are as follows: (1) targets of RBFOX (splice); (2) targets of RBFOX (splice target); (3) targets of FMRP (all peak); (4) targets of CHD8; (5) targets of TOP1; (6) WNT pathway; (7) MAPK signaling pathway; (8) GTPase regulator activity; (9) post-synaptic density complex genes; (10) synaptic genes; and (11) histone-modifier genes.