| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 6495 |
Name | SIX1 |
Synonymous | BOS3|DFNA23|TIP39;SIX homeobox 1;SIX1;SIX homeobox 1 |
Definition | homeobox protein SIX1|sine oculis homeobox homolog 1 |
Position | 14q23.1 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for SIX1 | ||
PCGP somatic mutation [Top] | ||
Variant (Variant; Chr; Position) | Genotype (MutationType; MutationClass; ReferenceAllele; Genotype; Origin) | Disease (CancerType; ValidationStatus; SequencingType) |
|---|---|---|
SIX1_E2_UTR_3; chr14; 61112541 |
SUB; UTR_3; T; T/C; SOMATIC | T-ALL; VALID; WGS |
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.721G>T; p.A241S; |
lung | carcinoma; small_cell_carcinoma |
c.86G>A; p.R29H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.404C>T; p.S135L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.92G>T; p.G31V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.421G>T; p.E141*; |
lung | carcinoma; adenocarcinoma |
c.242C>A; p.P81H; |
lung | carcinoma; adenocarcinoma |
c.37C>A; p.Q13K; |
lung | carcinoma; adenocarcinoma |
c.284C>T; p.A95V; |
autonomic_ganglia | neuroblastoma |
c.100C>A; p.L34M; |
autonomic_ganglia | neuroblastoma |
c.328C>A; p.R110R; |
breast | carcinoma |
c.270G>A; p.A90A; |
lung | carcinoma; squamous_cell_carcinoma |
c.720C>T; p.H240H; |
lung | carcinoma; squamous_cell_carcinoma |
c.5C>A; p.S2*; |
lung | carcinoma; squamous_cell_carcinoma |
c.328C>G; p.R110G; |
lung | carcinoma; squamous_cell_carcinoma |
c.798G>T; p.Q266H; |
ovary | carcinoma; serous_carcinoma |
c.609C>T; p.L203L; |
ovary | carcinoma; serous_carcinoma |
c.633G>T; p.P211P; |
lung | carcinoma; adenocarcinoma |
c.731C>T; p.S244L; |
breast | carcinoma |
c.554A>C; p.K185T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.603C>A; p.N201K; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.775G>A; p.G259S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.571G>A; p.E191K; |
endometrium | carcinoma; endometrioid_carcinoma |
c.413T>C; p.V138A; |
endometrium | carcinoma; endometrioid_carcinoma |
c.263T>G; p.L88R; |
endometrium | carcinoma; endometrioid_carcinoma |
c.720C>T; p.H240H; |
breast | carcinoma |
c.775G>A; p.G259S; |
breast | carcinoma |
c.245A>G; p.K82R; |
endometrium | carcinoma; endometrioid_carcinoma |
c.191G>A; p.R64H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.280G>T; p.E94*; |
breast | carcinoma |
c.571G>A; p.E191K; |
endometrium | carcinoma; endometrioid_carcinoma |
c.198C>T; p.L66L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.110T>C; p.L37P; |
endometrium | carcinoma; endometrioid_carcinoma |
c.429C>T; p.Y143Y; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.91G>A; p.G31S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.571G>A; p.E191K; |
endometrium | carcinoma; endometrioid_carcinoma |
c.123C>T; p.D41D; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.191G>A; p.R64H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.404C>T; p.S135L; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.328C>T; p.R110W; |
urinary_tract; bladder | carcinoma |
c.269C>T; p.A90V; |
prostate | carcinoma; adenocarcinoma |