| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 699 |
Name | BUB1 |
Synonymous | BUB1A|BUB1L|hBUB1;budding uninhibited by benzimidazoles 1 homolog (yeast);BUB1;budding uninhibited by benzimidazoles 1 homolog (yeast) |
Definition | BUB1 budding uninhibited by benzimidazoles 1 homolog|mitotic checkpoint serine/threonine-protein kinase BUB1|mitotic spindle checkpoint kinase|putative serine/threonine-protein kinase |
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 BUB1 | ||
PCGP somatic mutation [Top] | ||
Variant (Variant; Chr; Position) | Genotype (MutationType; MutationClass; ReferenceAllele; Genotype; Origin) | Disease (CancerType; ValidationStatus; SequencingType) |
|---|---|---|
BUB1_R146H; chr2; 111428131 |
SUB; MISSENSE; C; C/T; SOMATIC | RHB; PUTATIVE-HQ; EXOME |
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.2826G>C; p.L942F; |
breast | carcinoma; basal_(triple-negative)_carcinoma |
c.2590T>A; p.L864I; |
breast | carcinoma; HER-positive_carcinoma |
c.1024G>A; p.V342I; |
lung | carcinoma; squamous_cell_carcinoma |
c.1142G>A; p.S381N; |
lung | carcinoma; small_cell_carcinoma |
c.74G>T; p.G25V; 2:111148366-111148366 |
lung | carcinoma; adenocarcinoma |
c.2450A>C; p.K817T; |
liver | carcinoma; hepatocellular_carcinoma |
c.1381A>G; p.T461A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2810A>G; p.D937G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1698G>T; p.K566N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.730C>T; p.R244C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1985C>T; p.P662L; |
stomach | carcinoma |
c.2666T>A; p.M889K; |
ovary | carcinoma; serous_carcinoma |
c.870A>G; p.K290K; |
oesophagus | carcinoma; adenocarcinoma |
c.1692A>C; p.K564N; |
oesophagus | carcinoma; adenocarcinoma |
c.2083G>T; p.V695F; |
lung | carcinoma; adenocarcinoma |
c.2187G>T; p.G729G; |
liver | carcinoma |
c.2483C>G; p.P828R; |
large_intestine; colon | carcinoma |
c.135G>T; p.L45F; |
lung | carcinoma; adenocarcinoma |
c.720G>A; p.E240E; |
lung | carcinoma; adenocarcinoma |
c.3079A>T; p.M1027L; |
lung | carcinoma; adenocarcinoma |
c.660_677del18; p.V221_S227>S; 2:111141697-111141714 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.2708A>G; p.Y903C; |
liver | carcinoma |
c.64G>A; p.D22N; |
lung | carcinoma; small_cell_carcinoma |
c.573A>T; p.S191S; |
lung | carcinoma; squamous_cell_carcinoma |
c.1616+1G>A; p.?; |
ovary | carcinoma; serous_carcinoma |
c.1601A>G; p.N534S; 2:111131611-111131611 |
ovary | carcinoma; serous_carcinoma |
c.439C>T; p.L147F; |
lung | carcinoma; squamous_cell_carcinoma |
c.2895G>T; p.K965N; |
lung | carcinoma; adenocarcinoma |
c.1937T>C; p.V646A; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.127G>C; p.E43Q; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1663G>A; p.E555K; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1922G>T; p.C641F; |
lung | carcinoma; squamous_cell_carcinoma |
c.2953C>A; p.Q985K; |
lung | carcinoma; squamous_cell_carcinoma |
c.668C>G; p.S223*; |
lung | carcinoma; adenocarcinoma |
c.3162G>A; p.L1054L; |
lung | carcinoma; adenocarcinoma |
c.2471A>C; p.K824T; |
lung | carcinoma; squamous_cell_carcinoma |
c.38C>T; p.A13V; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.2518A>T; p.R840*; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.1011G>A; p.A337A; |
breast | carcinoma |
c.547G>A; p.A183T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2118C>T; p.A706A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1410C>T; p.F470F; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2058A>G; p.V686V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1063C>A; p.P355T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1600A>G; p.N534D; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2784_2785insG; p.F929fs*6; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.437G>A; p.R146H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1356G>A; p.T452T; |
large_intestine; colon | NS |
c.163G>A; p.E55K; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1310C>A; p.S437Y; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1656C>A; p.T552T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1132A>G; p.T378A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1856T>C; p.V619A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1073C>T; p.A358V; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.591A>G; p.I197M; |
large_intestine; rectum | NS |
c.93A>G; p.I31M; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.2325G>A; p.K775K; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1655C>T; p.T552I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1908G>A; p.A636A; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2452T>G; p.F818V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1606G>T; p.E536*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.75T>C; p.G25G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1908G>A; p.A636A; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2959G>A; p.D987N; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.78A>G; p.E26E; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.2912T>G; p.F971C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1175C>A; p.T392K; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1889C>A; p.A630E; |
endometrium | carcinoma; endometrioid_carcinoma |
c.949A>G; p.R317G; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2854G>C; p.D952H; |
breast | carcinoma |
c.2769C>G; p.F923L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.42C>T; p.H14H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1606G>T; p.E536*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.730C>T; p.R244C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1310C>A; p.S437Y; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2706T>C; p.L902L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3202G>A; p.A1068T; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1739C>G; p.T580S; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.2744A>G; p.H915R; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2029C>T; p.R677C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.148G>A; p.E50K; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.521C>G; p.S174*; |
urinary_tract; bladder | carcinoma |
c.3129T>A; p.H1043Q; |
urinary_tract; bladder | carcinoma |
c.1600A>G; p.N534D; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1863T>C; p.I621I; |
cervix | carcinoma; squamous_cell_carcinoma |
c.1600A>G; p.N534D; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1601A>G; p.N534S; 2:111131611-111131611 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1601A>G; p.N534S; 2:111131611-111131611 |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1723T>G; p.F575V; |
urinary_tract; bladder | carcinoma |
c.905A>C; p.Q302P; |
urinary_tract; bladder | carcinoma |
c.2809G>T; p.D937Y; |
prostate | carcinoma |