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Fig. 4 | Human Genomics

Fig. 4

From: Architecture of polymorphisms in the human genome reveals functionally important and positively selected variants in immune response and drug transporter genes

Fig. 4

Distribution of potentially deleterious coding polymorphisms in human genes. a Percentage of genes with different numbers of potentially deleterious coding polymorphisms in their coding regions. Genes without any potentially deleterious coding polymorphisms are divided into two groups: (1) functionally conserved genes, i.e. genes with no nsSNV nor INDELs in coding regions; (2) genes carrying non-deleterious SNVs in their coding regions. b Benjamini-corrected p values for the functional terms that show enrichment of the genes with more than five potentially deleterious nsSNVs. c Benjamini-corrected p values for the functional terms that show enrichment of the genes with SNVs that cause NMD (non-shaded) and the genes with coding INDELs that cause frame-shift (black). d Percentage of genes with RPS nsSNVs and genes carrying nsSNVs with high FST (> 0.3) in the whole genome, ABC transporter and CYP450 family. e Recently positively selected and/or population-differentiated nsSNVs in the ABC transporters. FST scores in bold indicate FST > 0.3. *Oxidoreductase activity: oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen

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