Fig. 5. Functional implications of positive selection.
(A) (Left) Frequency of HighD SNPs versus matched sites for broad categories (marked by hollow triangles in Fig. 2A). (Right) Specific categories, e.g., specific TF families. Asterisk denotes significant enrichment after multiple-hypothesis correction. e superscripts in red denote the enrichment of eQTLs. (B) (Left) The in-degree of genes with HighD missense SNPs is lower than that of all genes. (Center) The in-degree of genes with HighD SNPs in their promoters is higher than all genes. (Right) The human regulatory network with edges in gray. Red nodes represent genes with HighD SNPs in their promoters, and blue nodes represent genes with HighD missense SNPs. Size of nodes scaled based on their degree centrality. Nodes with higher centrality are bigger and tend to be in the center, whereas those with lower centrality are smaller and tend to be on the periphery.