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 |