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From Mouse to Human: Evolutionary Genomics Analysis of Human Orthologs of Essential Genes

Figure 3

Analysis of individual mutational load in essential genes.

The boxes span the lower and upper quartile with the median indicated by a red bar; whiskers extend to data points less than 1.5 times the interquartile range. Values are transformed to Z-scores relative to the genome average of all protein coding genes. The P-values given are for the comparison of EG versus NLG (top) and EG versus ALL (bottom). A) Ratio of non-synonymous to synonymous exonic variants. B) Gene-length corrected average number of exonic missense variants. C) Fraction of loss-of-function variants among all exonic missense variants. D) Estimates of mutational load in essential genes in each human genome at different allele frequencies. The plots show all exonic missense variants (blue), putative damaging exonic variants (orange) and loss-of-function variants (red). Error bars depict the standard deviation.

Figure 3