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Table 1 Genes with recurrent synonymous mutations potentially affecting regulatory elements

From: Somatic synonymous mutations in regulatory elements contribute to the genetic aetiology of melanoma

Gene Gene length Putative mechanismsa Number of functional synonymous mutations Number of expected synonymous mutations p values
DNAH5 13,875 disrupt ESR sequence in near SS, alter DHS, and decrease the use of optimal codons 13 0.037106647 3.92 × 10−29
ADCY8 3756 disrupt ESR sequence in near SS, alter DHS, and decrease the use of optimal codons 5 0.014354406 5.02 × 10−12
GRIN2A 4395 disrupt ESR sequence in near SS, alter DHS, and decrease the use of optimal codons 5 0.01648022 9.99 × 10−12
SLC9A2 2439 disrupt ESR sequence in near SS, alter DHS, and decrease the use of optimal codons 4 0.008004311 1.7 × 10−10
CASR 3267 alter DHS, decrease the use of optimal codons 4 0.011093165 6.25 × 10−10
KSR2 2853 disrupt ESR sequence in near SS, alter DHS, and decrease the use of optimal codons 4 0.012140187 8.96 × 10−10
MYH1 5820 disrupt ESR sequence in near SS, alter DHS, and decrease the use of optimal codons 4 0.014354315 1.75 × 10−9
TECTA 6468 disrupt ESR sequence in near SS, alter DHS, and decrease the use of optimal codons 4 0.02571247 1.78 × 10−8
SLC8A3 2784 disrupt ESR sequence in near SS, decrease the use of optimal codons 3 0.00836151 9.68 × 10−8
RIMS2 4050 alter DHS, decrease the use of optimal codons 3 0.009850803 1.58 × 10− 7
XKR6 1926 alter DHS 3 0.010850219 2.11 × 10−7
SCN10A 5871 alter DHS, decrease the use of optimal codons 3 0.016168958 6.96 × 10−7
  1. aESR: exonic splicing regulators, SS: splicing sites, DHS: DNase I hypersensitivity sites