Skip to main content
. 2017 May 9;8:15183. doi: 10.1038/ncomms15183

Table 2. Genomic features.

  Human germline Mouse germline Human somatic Mouse somatic
% of mutations
 3′ UTR 0.00 1.45 0.49 0.60
 5′ UTR 0.00 0.00 0.07 0.11
 downstream 0.89 0.00 0.65 0.90
 exonic 2.68 0.97 0.96 1.23
 exonic;splicing 0.00 0.00 0.00 0.03
 intergenic 50.89 60.87 55.54 62.21
 intronic 35.71 34.30 32.28 31.21
 ncRNA 8.93 1.93 9.52 3.00
 splicing 0.00 0.00 0.02 0.00
 upstream 0.89 0.48 0.45 0.71
% of exonic mutations
 nonsynonymous 66.67 50.00 56.60 69.57
 synonymous 33.33 50.00 37.74 28.26
stop gain 0.00 0.00 5.66 2.17
 Observed Ns/S 2.0 1.0 1.65 2.54
 Expected Ns/S 2.39 2.40 2.76 2.98

Distribution of mutations in genomic features and types of exonic mutations. As data on the locations of human germline mutations from ref. 14 were not available, only the mutations from ref. 13 were considered.