| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 6662 |
Name | SOX9 |
Synonymous | CMD1|CMPD1|SRA1;SRY (sex determining region Y)-box 9;SOX9;SRY (sex determining region Y)-box 9 |
Definition | SRY (sex-determining region Y)-box 9 protein|SRY-related HMG-box, gene 9|transcription factor SOX-9 |
Position | 17q23 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for SOX9 | ||
PCGP somatic mutation [Top] | ||
Variant (Variant; Chr; Position) | Genotype (MutationType; MutationClass; ReferenceAllele; Genotype; Origin) | Disease (CancerType; ValidationStatus; SequencingType) |
|---|---|---|
SOX9_E1_UTR_5; chr17; 70117266 |
SUB; UTR_5; G; G/T; SOMATIC | MB; VALID; WGS |
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.436C>A; p.L146M; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.192C>A; p.S64R; |
lung | carcinoma; small_cell_carcinoma |
c.347C>T; p.A116V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.566C>T; p.A189V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1436C>A; p.P479H; |
pancreas | carcinoma |
c.765_766insG; p.R257fs*39; |
pancreas | carcinoma |
c.1225G>T; p.E409*; |
large_intestine; colon | adenoma |
c.1293_1294insT; p.Y432fs*>79; |
oesophagus; lower_third | carcinoma; adenocarcinoma |
c.516C>G; p.Y172*; |
oesophagus | carcinoma; adenocarcinoma |
c.1090G>A; p.A364T; |
liver | carcinoma; hepatocellular_carcinoma |
c.1243_1244insGC; p.P415fs*56; |
large_intestine; colon | carcinoma |
c.791G>C; p.R264T; |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma |
c.426C>T; p.L142L; |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma |
c.1436C>A; p.P479H; |
pancreas | carcinoma; ductal_carcinoma |
c.496_498delAAG; p.K166delK; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.916G>T; p.V306L; |
lung | carcinoma; adenocarcinoma |
c.1523G>A; p.R508Q; |
lung | carcinoma; adenocarcinoma |
c.1438A>T; p.I480F; |
lung | carcinoma; adenocarcinoma |
c.223G>A; p.E75K; |
lung | carcinoma; adenocarcinoma |
c.723C>T; p.P241P; |
meninges | meningioma |
c.260C>A; p.T87K; |
liver | carcinoma |
c.172C>T; p.P58S; |
breast | carcinoma; basal_(triple-negative)_carcinoma |
c.61G>A; p.A21T; |
prostate | adenoma |
c.1442C>G; p.A481G; |
lung | carcinoma; adenocarcinoma |
c.223G>A; p.E75K; |
lung | carcinoma; adenocarcinoma |
c.500A>C; p.K167T; |
lung | carcinoma; adenocarcinoma |
c.807C>A; p.D269E; |
lung | carcinoma; squamous_cell_carcinoma |
c.72C>G; p.P24P; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.105C>A; p.C35*; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.810C>A; p.F270L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.344G>A; p.W115*; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.872delT; p.V291fs*92; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.761_762delGA; p.E255fs*40; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1246C>T; p.Q416*; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1096delC; p.P367fs*16; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.915_916insGT; p.P307fs*77; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.437delT; p.L146fs*37; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1133_1134insGG; p.A379fs*5; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.866_867insC; p.D290fs*6; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.764_765insGG; p.R257fs*23; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.503A>G; p.D168G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.736C>T; p.Q246*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1267delT; p.F423fs*47; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.684delG; p.Q230fs*23; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.453_455delGCG; p.R152delR; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.92C>T; p.A31V; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.809_810insC; p.R271fs*25; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1105C>T; p.Q369*; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1529G>C; p.*510S; |
breast | carcinoma |
c.183_184insA; p.E63fs*189; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.622C>T; p.Q208*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.703C>G; p.P235A; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1330G>A; p.D444N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1420C>T; p.R474C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1332C>A; p.D444E; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.376C>T; p.Q126*; |
breast | carcinoma |
c.640T>C; p.S214P; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1378A>C; p.T460P; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1237_1238insTG; p.H413fs*58; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1239_1241delCTC; p.H413_S414>Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1231C>T; p.Q411*; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1347_1348insTCCT; p.Y451fs*>61; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.514T>C; p.Y172H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.496_498delAAG; p.K166delK; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1180C>T; p.R394*; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.871_872insTCAA; p.E293fs*4; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.912delG; p.V306fs*77; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.526C>T; p.P176S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.782_783insG; p.R264fs*32; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.454C>T; p.R152W; |
endometrium | carcinoma; endometrioid_carcinoma |
c.858C>T; p.I286I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.529C>T; p.R177W; |
endometrium | carcinoma; endometrioid_carcinoma |
c.770G>A; p.R257H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1450T>G; p.S484A; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1183A>G; p.T395A; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1316_1317insG; p.Y440fs*>71; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1243delC; p.Q416fs*54; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.68_69insCC; p.T25fs*37; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.524A>C; p.Q175P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1196_1197insG; p.E400fs*>111; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.816_817insGT; p.D274fs*6; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.698_699insCC; p.P235fs*19; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.612C>T; p.F204F; |
urinary_tract; bladder | carcinoma |
c.686-1G>A; p.?; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.507C>T; p.H169H; |
breast | carcinoma |
c.611T>A; p.F204Y; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.610_611insAAG; p.F204>*; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.229G>T; p.V77F; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.496_498delAAG; p.K166delK; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1343_1344delCC; p.S448fs*1; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.897G>A; p.P299P; |
urinary_tract; bladder | carcinoma |