Supplementary Figure 4: Characteristics of CADD-based 95% CI MSC scores generated from HGMD disease-associated mutations.
From: The mutation significance cutoff: gene-level thresholds for variant predictions
(A) Density plot of the MSC scores of all 19,698 human protein-coding genes, with a genome-wide MSC median=10.60. (B) An inverse exponential correlation between MSC and gene damage level measured by the gene damage index (GDI), showing that low MSC genes tend to be highly damaged whereas high MSC genes tend to be only slightly damaged. (C) An exponential correlation between MSC and purifying selection level measured by the neutrality index (NI), showing that high MSC genes tend to be under stronger purifying selection. (D) KEGG pathways functional enrichment of 985 genes with low MSC. The upper panel shows enrichment in the complement and coagulation cascades pathway; the lower panel shows enrichment in the ECM-receptor interaction pathway. (D) 2,288 high MSC genes display a functional enrichment in the Ribosome pathway.
