| Gene information | Literature | Expression | lncRNA | Mutation | Homolog |
Basic Information | |
|---|---|
Gene ID | 6657 |
Name | SOX2 |
Synonymous | SRY (sex determining region Y)-box 2;SOX2;SRY (sex determining region Y)-box 2 |
Definition | SRY-related HMG-box gene 2|transcription factor SOX-2|transcription factor SOX2 |
Position | 3q26.3-q27 |
Gene Type | protein-coding |
COSMIC confirmed somatic mutation [Top] | |||
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.123C>G; p.V41V; 3:181712483-181712483 |
breast | carcinoma | Substitution - coding silent |
c.250G>A; p.E84K; 3:181712610-181712610 |
breast | carcinoma | Substitution - Missense |
c.466C>T; p.R156C; 3:181712826-181712826 |
breast | carcinoma | Substitution - Missense |
c.472G>A; p.D158N; 3:181712832-181712832 |
cervix | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.698C>A; p.P233H; 3:181713058-181713058 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.452C>T; p.A151V; 3:181712812-181712812 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.111C>T; p.S37S; 3:181712471-181712471 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.654C>T; p.N218N; 3:181713014-181713014 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.355C>T; p.L119F; 3:181712715-181712715 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.424G>A; p.G142R; 3:181712784-181712784 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.803G>C; p.G268A; 3:181713163-181713163 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.201C>A; p.H67Q; 3:181712561-181712561 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.684G>A; p.S228S; 3:181713044-181713044 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.644C>T; p.T215I; 3:181713004-181713004 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.811C>T; p.R271W; 3:181713171-181713171 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.60C>G; p.G20G; 3:181712420-181712420 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.355C>G; p.L119V; 3:181712715-181712715 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.660G>C; p.S220S; 3:181713020-181713020 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.862G>A; p.A288T; 3:181713222-181713222 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.228C>T; p.G76G; 3:181712588-181712588 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.257A>G; p.E86G; 3:181712617-181712617 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.160G>A; p.G54R; 3:181712520-181712520 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.639G>A; p.S213S; 3:181712999-181712999 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.788C>T; p.A263V; 3:181713148-181713148 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.602A>G; p.D201G; 3:181712962-181712962 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.829T>C; p.Y277H; 3:181713189-181713189 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.297G>A; p.A99A; 3:181712657-181712657 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.167G>T; p.R56L; 3:181712527-181712527 |
liver | carcinoma | Substitution - Missense |
c.167G>T; p.R56L; 3:181712527-181712527 |
liver | carcinoma | Substitution - Missense |
c.954A>G; p.*318W; 3:181713314-181713314 |
liver | carcinoma | Nonstop extension |
c.954A>G; p.*318W; 3:181713314-181713314 |
liver | carcinoma | Nonstop extension |
c.91G>T; p.G31C; 3:181712451-181712451 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.656G>T; p.G219V; 3:181713016-181713016 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.133A>T; p.M45L; 3:181712493-181712493 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.430G>C; p.G144R; 3:181712790-181712790 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.859G>A; p.A287T; 3:181713219-181713219 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.576G>A; p.A192A; 3:181712936-181712936 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - coding silent |
c.337C>T; p.R113W; 3:181712697-181712697 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.337C>T; p.R113W; 3:181712697-181712697 |
pancreas | carcinoma | Substitution - Missense |
c.630G>C; p.M210I; 3:181712990-181712990 |
skin; extremity | malignant_melanoma | Substitution - Missense |
c.897G>A; p.Q299Q; 3:181713257-181713257 |
skin | malignant_melanoma | Substitution - coding silent |
c.160G>A; p.G54R; 3:181712520-181712520 |
skin | malignant_melanoma | Substitution - Missense |
c.678C>T; p.S226S; 3:181713038-181713038 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.919G>C; p.A307P; 3:181713279-181713279 |
soft_tissue; fat | liposarcoma; myxoid-round_cell | Substitution - Missense |
c.353C>T; p.T118M; 3:181712713-181712713 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.267G>A; p.P89P; 3:181712627-181712627 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.753delC; p.P253fs*21; 3:181713113-181713113 |
stomach | carcinoma; intestinal_adenocarcinoma | Deletion - Frameshift |
c.395T>C; p.L132P; 3:181712755-181712755 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.248C>T; p.S83L; 3:181712608-181712608 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.791C>T; p.P264L; 3:181713151-181713151 |
thyroid | other; neoplasm | Substitution - Missense |
c.793T>A; p.C265S; 3:181713153-181713153 |
thyroid | other; neoplasm | Substitution - Missense |
c.319G>C; p.D107H; 3:181712679-181712679 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.664A>C; p.T222P; 3:181713024-181713024 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.805G>T; p.D269Y; 3:181713165-181713165 |
urinary_tract; bladder | carcinoma | Substitution - Missense |