| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 274 |
Name | BIN1 |
Synonymous | AMPH2|AMPHL|SH3P9;bridging integrator 1;BIN1;bridging integrator 1 |
Definition | amphiphysin II|amphiphysin-like protein|box dependant MYC interacting protein 1|box-dependent myc-interacting protein 1|myc box-dependent-interacting protein 1 |
Position | 2q14 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for BIN1 | ||
PCGP somatic mutation [Top] | ||
Variant (Variant; Chr; Position) | Genotype (MutationType; MutationClass; ReferenceAllele; Genotype; Origin) | Disease (CancerType; ValidationStatus; SequencingType) |
|---|---|---|
BIN1_E421_E15splice_region; chr2; 127809948 |
ISPLICE_REGION; -; -/CCCCCCACA; SOMATIC | HYPO; VALID; WGS |
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.676_678delGAG; p.E226delE; |
liver | carcinoma; hepatocellular_carcinoma |
c.1781G>T; p.*594L; |
liver | carcinoma; hepatocellular_carcinoma |
c.444G>A; p.V148V; |
skin; upper_leg | malignant_melanoma |
c.1719G>T; p.Q573H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.160C>T; p.Q54*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1609G>T; p.D537Y; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1573G>T; p.V525L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1621C>G; p.L541V; |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.701G>A; p.R234H; |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.1630G>A; p.G544S; |
oesophagus | carcinoma; adenocarcinoma |
c.866C>T; p.A289V; |
lung | carcinoma; mucoepidermoid_carcinoma |
c.1618C>T; p.Q540*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.698+8C>T; p.?; |
skin; head_neck | malignant_melanoma; superficial_spreading |
c.1093A>T; p.T365S; |
lung | carcinoma; adenocarcinoma |
c.1165A>T; p.S389C; |
lung | carcinoma; adenocarcinoma |
c.260A>T; p.Q87L; |
lung | carcinoma; adenocarcinoma |
c.433C>G; p.R145G; |
lung | carcinoma; adenocarcinoma |
c.1627G>T; p.A543S; |
lung | carcinoma; adenocarcinoma |
c.1241C>G; p.S414*; |
lung | carcinoma; adenocarcinoma |
c.262G>T; p.E88*; |
lung | carcinoma; adenocarcinoma |
c.532C>A; p.L178I; 2:127542289-127542289 |
skin | malignant_melanoma |
c.1194C>A; p.L398L; 2:127527996-127527996 |
lung | carcinoma; non_small_cell_carcinoma |
c.764A>G; p.E255G; |
NS | NS |
c.1746C>T; p.G582G; |
lung | carcinoma; small_cell_carcinoma |
c.1625A>T; p.K542M; |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.1362G>A; p.G454G; |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.1625A>T; p.K542M; |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.277G>A; p.D93N; 2:127544637-127544637 |
ovary | carcinoma; serous_carcinoma |
c.843C>G; p.V281V; |
ovary | carcinoma; serous_carcinoma |
c.589C>G; p.Q197E; |
ovary | carcinoma; serous_carcinoma |
c.408C>A; p.I136I; 2:127544044-127544044 |
ovary | carcinoma; serous_carcinoma |
c.337G>C; p.D113H; |
ovary | carcinoma; serous_carcinoma |
c.416G>T; p.R139L; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.86T>G; p.V29G; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1227G>A; p.T409T; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.355delG; p.V119fs*6; |
breast | carcinoma |
c.1618C>A; p.Q540K; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.894G>A; p.S298S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1193T>C; p.L398P; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1281C>T; p.A427A; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1745G>T; p.G582V; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.403G>A; p.D135N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.684G>A; p.P228P; |
endometrium | carcinoma; endometrioid_carcinoma |
c.550delC; p.Q184fs*12; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.864C>T; p.N288N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1707C>T; p.S569S; |
breast | carcinoma |
c.570G>A; p.L190L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.79_81delGAG; p.E27delE; |
endometrium | carcinoma; endometrioid_carcinoma |
c.907T>C; p.S303P; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1359G>A; p.P453P; |
endometrium | carcinoma; endometrioid_carcinoma |
c.278A>G; p.D93G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.657G>A; p.M219I; |
prostate | carcinoma |
c.657G>A; p.M219I; |
prostate | carcinoma |
c.657G>A; p.M219I; |
prostate | carcinoma |
c.502G>A; p.E168K; |
skin | malignant_melanoma |