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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

GeneGene lengthPutative mechanismsaNumber of functional synonymous mutationsNumber of expected synonymous mutationsp values
DNAH513,875disrupt ESR sequence in near SS, alter DHS, and decrease the use of optimal codons130.0371066473.92 × 10−29
ADCY83756disrupt ESR sequence in near SS, alter DHS, and decrease the use of optimal codons50.0143544065.02 × 10−12
GRIN2A4395disrupt ESR sequence in near SS, alter DHS, and decrease the use of optimal codons50.016480229.99 × 10−12
SLC9A22439disrupt ESR sequence in near SS, alter DHS, and decrease the use of optimal codons40.0080043111.7 × 10−10
CASR3267alter DHS, decrease the use of optimal codons40.0110931656.25 × 10−10
KSR22853disrupt ESR sequence in near SS, alter DHS, and decrease the use of optimal codons40.0121401878.96 × 10−10
MYH15820disrupt ESR sequence in near SS, alter DHS, and decrease the use of optimal codons40.0143543151.75 × 10−9
TECTA6468disrupt ESR sequence in near SS, alter DHS, and decrease the use of optimal codons40.025712471.78 × 10−8
SLC8A32784disrupt ESR sequence in near SS, decrease the use of optimal codons30.008361519.68 × 10−8
RIMS24050alter DHS, decrease the use of optimal codons30.0098508031.58 × 10− 7
XKR61926alter DHS30.0108502192.11 × 10−7
SCN10A5871alter DHS, decrease the use of optimal codons30.0161689586.96 × 10−7
  1. aESR: exonic splicing regulators, SS: splicing sites, DHS: DNase I hypersensitivity sites