Analysis of Stop-Gain and Frameshift Variants in Human Innate Immunity Genes
Figure 6
Discrimination of pathogenic and non-pathogenic variants within OMIM genes according to the degree of gene conservation.
Shown are boxplots representing the distribution of the average sequence-based score of pathogenic (dark grey) and non-pathogenic/non-annotated (orange) stop-gain variants in OMIM genes depicted in Figure 5. The distributions of the corresponding MacArthur 2012 and RVIS gene-based scores are shown in light grey. Genes are represented in two categories according to their conservation level in primates: dN/dS ratio below (Panel A; n = 54) and above (Panel B; n = 20) the protein-coding genome average.