| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 6663 |
Name | SOX10 |
Synonymous | DOM|PCWH|WS2E|WS4|WS4C;SRY (sex determining region Y)-box 10;SOX10;SRY (sex determining region Y)-box 10 |
Definition | SRY-related HMG-box gene 10|dominant megacolon, mouse, human homolog of|transcription factor SOX-10 |
Position | 22q13.1 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for SOX10 | ||
PCGP somatic mutation [Top] | ||
There is no record for SOX10 | ||
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.1271C>T; p.A424V; |
NS | malignant_melanoma |
c.521A>T; p.Q174L; |
NS | malignant_melanoma |
c.521A>T; p.Q174L; |
NS | malignant_melanoma |
c.373C>T; p.Q125*; |
skin; shoulder | malignant_melanoma |
c.968C>T; p.A323V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.209T>C; p.V70A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.475C>T; p.R159W; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1068_1075delGAAGACAG; p.K357fs*42; |
skin; back | malignant_melanoma |
c.572C>T; p.P191L; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; NK-T_cell_lymphoma |
c.128G>A; p.R43Q; |
NS | malignant_melanoma |
c.671C>A; p.S224*; |
oesophagus; lower_third | carcinoma; adenocarcinoma |
c.600C>T; p.T200T; |
oesophagus | carcinoma; adenocarcinoma |
c.529C>T; p.R177W; |
liver | carcinoma |
c.250G>A; p.D84N; |
large_intestine; colon | carcinoma |
c.529C>T; p.R177W; |
liver | carcinoma |
c.836G>C; p.G279A; |
lung | carcinoma; adenocarcinoma |
c.1237G>A; p.G413S; |
NS | malignant_melanoma |
c.1082C>T; p.A361V; |
NS | malignant_melanoma |
c.1238G>A; p.G413D; |
NS | malignant_melanoma |
c.1240C>T; p.H414Y; |
NS | malignant_melanoma |
c.324G>A; p.M108I; |
bone | chondrosarcoma |
c.911A>G; p.N304S; |
central_nervous_system; spinal_cord | glioma; ependymoma |
c.1027_1028CC>AA; p.P343N; |
lung | carcinoma; adenocarcinoma |
c.624G>A; p.K208K; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.624G>A; p.K208K; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1040C>T; p.P347L; |
lung | carcinoma; squamous_cell_carcinoma |
c.1244C>A; p.S415*; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.529C>A; p.R177R; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.644G>A; p.R215Q; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.354G>A; p.A118A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.672_673insT; p.D225fs*1; |
breast | carcinoma |
c.355C>T; p.R119C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.735G>A; p.P245P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.368C>T; p.A123V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1332C>A; p.P444P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1018G>A; p.V340M; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.529C>T; p.R177W; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1239C>T; p.G413G; |
breast | carcinoma |
c.1082C>T; p.A361V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1298G>A; p.R433Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.642C>T; p.H214H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1369C>A; p.Q457K; |
endometrium | carcinoma; endometrioid_carcinoma |
c.316C>T; p.R106W; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.367G>A; p.A123T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1017C>T; p.G339G; |
cervix | carcinoma; squamous_cell_carcinoma |
c.1268C>T; p.S423L; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.541G>A; p.G181R; |
skin | malignant_melanoma |
c.1208C>T; p.S403F; |
skin; mucosal | malignant_melanoma |