Fig. 3
Most polymorphic vs conserved genes in the human genome. a Genes having the highest number of SNVs normalized against gene length (> 30 SNVs/kb per gene). Green box: haemoglobin genes; blue box: MHC genes; orange box: OR genes. b Benjamini-corrected p values for the significantly enriched functional terms for non-polymorphic genes (grey bars), functionally conserved genes (white bars) which are genes without nsSNVs and coding INDELs as well as ultra-conserved genes (black bars) which are the genes with UCEs within their coding regions. c Benjamini-corrected p values for the functional terms that are significantly enriched by the highly polymorphic genes. Grey bars: the functional terms related to immune responses. d Empirical distribution of the numbers of pfSNVs obtained from 23 genes that are randomly sampled from all the human genes with lengths 3–15 kb for 1000 times. The number of pfSNVs in the 23 MHC genes is significantly higher than that in the randomly sampled gene sets (empirical p value < 0.001). e Enrichment of SNVs with different potential functions in MHC class I and class II genes. Fold enrichment is calculated as the percentage of pfSNVs in specific genic regions (e.g. coding SNVs that may alter ESE/ESS) in the MHC class I and class II genes against that for all the human genes. Deviation from one indicates that the pfSNVs are over- or under-represented in the MHC genes