| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 53335 |
Name | BCL11A |
Synonymous | BCL11A-L|BCL11A-S|BCL11A-XL|CTIP1|EVI9|HBFQTL5|ZNF856;B-cell CLL/lymphoma 11A (zinc finger protein);BCL11A;B-cell CLL/lymphoma 11A (zinc finger protein) |
Definition | B-cell CLL/lymphoma 11A (zinc finger protein) isoform 2|B-cell lymphoma/leukemia 11A|BCL-11A|BCL11A B-cell CLL/lymphoma 11A (zinc finger protein) isoform 1|C2H2-type zinc finger protein|COUP-TF-interacting protein 1|EVI-9|ecotropic viral integration site |
Position | 2p16.1 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for BCL11A | ||
PCGP somatic mutation [Top] | ||
There is no record for BCL11A | ||
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.1977G>T; p.W659C; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.140_141CC>AG; p.T47K; 2:60626854-60626855 |
lung | carcinoma; non_small_cell_carcinoma |
c.2476C>T; p.R826*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1595C>T; p.A532V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1057C>T; p.P353S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.51C>A; p.F17L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2431G>A; p.V811M; |
pancreas | carcinoma |
c.1292C>T; p.S431L; |
skin; shoulder | malignant_melanoma |
c.1480_1491del12; p.E501_E504delEEEE; 2:60542060-60542071 |
breast | carcinoma; ductal_carcinoma |
c.2142C>T; p.S714S; |
liver | carcinoma |
c.1926C>T; p.F642F; |
liver | carcinoma |
c.614G>A; p.S205N; |
liver | carcinoma |
c.727A>G; p.I243V; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.1661C>T; p.S554F; 2:60541890-60541890 |
skin | malignant_melanoma |
c.1956G>A; p.T652T; |
oesophagus | carcinoma; adenocarcinoma |
c.2064G>A; p.S688S; |
oesophagus | carcinoma; adenocarcinoma |
c.2224G>A; p.D742N; |
oesophagus | carcinoma; adenocarcinoma |
c.1962C>T; p.N654N; |
oesophagus | carcinoma; adenocarcinoma |
c.1440G>A; p.P480P; |
oesophagus | carcinoma; adenocarcinoma |
c.2152A>C; p.S718R; |
oesophagus | carcinoma; adenocarcinoma |
c.1376C>G; p.A459G; |
oesophagus | carcinoma; squamous_cell_carcinoma |
c.1200G>A; p.T400T; |
liver | carcinoma |
c.1572C>T; p.H524H; |
liver | carcinoma |
c.425C>T; p.S142F; 2:60549433-60549433 |
breast | carcinoma; ductal_carcinoma |
c.425C>T; p.S142F; 2:60549433-60549433 |
breast | carcinoma; ductal_carcinoma |
c.1417G>A; p.E473K; |
liver | carcinoma; hepatocellular_carcinoma |
c.772C>T; p.R258C; |
large_intestine; colon | carcinoma |
c.2285_2286insA; p.S763fs*9; |
large_intestine; colon | carcinoma |
c.140_141CC>AG; p.T47K; 2:60626854-60626855 |
lung | carcinoma; adenocarcinoma |
c.2431G>A; p.V811M; |
pancreas | carcinoma; ductal_carcinoma |
c.1349C>T; p.P450L; |
lung | carcinoma; adenocarcinoma |
c.1782G>T; p.S594S; |
lung | carcinoma; adenocarcinoma |
c.1118C>T; p.P373L; |
lung | carcinoma; adenocarcinoma |
c.931C>G; p.P311A; |
lung | carcinoma; adenocarcinoma |
c.1527G>A; p.E509E; |
lung | carcinoma; adenocarcinoma |
c.1328C>G; p.S443C; |
lung | carcinoma; adenocarcinoma |
c.601A>T; p.S201C; |
lung | carcinoma; adenocarcinoma |
c.1726G>T; p.A576S; |
lung | carcinoma; adenocarcinoma |
c.1116C>A; p.P372P; |
lung | carcinoma; adenocarcinoma |
c.345G>T; p.T115T; |
lung | carcinoma; adenocarcinoma |
c.2045C>T; p.S682L; |
lung | carcinoma; adenocarcinoma |
c.428C>T; p.A143V; |
lung | carcinoma; adenocarcinoma |
c.598G>C; p.E200Q; |
ovary | carcinoma; clear_cell_carcinoma |
c.344C>T; p.T115M; |
NS | NS |
c.610G>A; p.G204R; |
central_nervous_system; temporoparietal | glioma; astrocytoma_Grade_IV |
c.2383G>A; p.V795M; |
liver | carcinoma |
c.2190_2199del10; p.G731fs*56; |
lung | carcinoma; mixed_small_cell_carcinoma-adenocarcinoma |
c.2222G>A; p.S741N; |
breast | carcinoma; basal_(triple-negative)_carcinoma |
c.1937C>T; p.P646L; |
autonomic_ganglia | neuroblastoma |
c.2202C>T; p.S734S; 2:60541349-60541349 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.2202C>T; p.S734S; 2:60541349-60541349 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.1169G>A; p.S390N; 2:60542382-60542382 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.1169G>A; p.S390N; 2:60542382-60542382 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.565G>A; p.A189T; 2:60542986-60542986 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.565G>A; p.A189T; 2:60542986-60542986 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.913C>T; p.P305S; 2:60542638-60542638 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.913C>T; p.P305S; 2:60542638-60542638 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.562C>T; p.H188Y; 2:60542989-60542989 |
ovary | carcinoma; serous_carcinoma |
c.2256G>A; p.K752K; |
lung | carcinoma; adenocarcinoma |
c.1723C>A; p.L575M; |
lung | carcinoma; adenocarcinoma |
c.1540G>A; p.G514S; 2:60542011-60542011 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.1540G>A; p.G514S; 2:60542011-60542011 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.2218C>T; p.R740C; 2:60541333-60541333 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.2218C>T; p.R740C; 2:60541333-60541333 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.2202C>T; p.S734S; 2:60541349-60541349 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.1091A>T; p.Q364L; |
lung | carcinoma; squamous_cell_carcinoma |
c.2280C>T; p.H760H; |
lung | carcinoma; squamous_cell_carcinoma |
c.2388G>A; p.G796G; |
lung | carcinoma; squamous_cell_carcinoma |
c.1015A>T; p.M339L; |
lung | carcinoma; adenocarcinoma |
c.899T>A; p.V300E; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.2056T>G; p.S686A; |
lung | carcinoma; squamous_cell_carcinoma |
c.1777G>T; p.E593*; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1474G>A; p.E492K; |
lung | carcinoma; squamous_cell_carcinoma |
c.293C>A; p.P98H; |
lung | carcinoma; adenocarcinoma |
c.1012_1013CC>TT; p.P338F; |
lung | carcinoma; adenocarcinoma |
c.609C>T; p.H203H; |
lung | carcinoma; adenocarcinoma |
c.1913T>A; p.L638H; |
lung | carcinoma; squamous_cell_carcinoma |
c.1320C>T; p.D440D; |
lung | carcinoma; squamous_cell_carcinoma |
c.838G>C; p.E280Q; |
lung | carcinoma; squamous_cell_carcinoma |
c.273G>A; p.E91E; |
lung | carcinoma; squamous_cell_carcinoma |
c.1041G>C; p.Q347H; |
lung | carcinoma; squamous_cell_carcinoma |
c.2429G>T; p.S810I; |
lung | carcinoma; squamous_cell_carcinoma |
c.1997C>G; p.S666C; |
lung | carcinoma; adenocarcinoma |
c.2309A>G; p.Y770C; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.174_175GG>CT; p.D59Y; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1057C>A; p.P353T; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.2404T>C; p.C802R; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.2298C>T; p.G766G; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.2109C>A; p.P703P; |
endometrium | carcinoma; endometrioid_carcinoma |
c.566C>T; p.A189V; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2029G>A; p.G677R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1756G>A; p.D586N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.564C>T; p.H188H; |
breast | carcinoma |
c.1661C>T; p.S554F; 2:60541890-60541890 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.609C>T; p.H203H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2183C>T; p.P728L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1439C>T; p.P480L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1423G>A; p.D475N; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.100G>A; p.G34S; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.361T>A; p.C121S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2093G>A; p.R698H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2132C>T; p.S711L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1078delC; p.L360fs*61; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.587G>C; p.R196T; |
breast | carcinoma |
c.565G>A; p.A189T; 2:60542986-60542986 |
endometrium | carcinoma; endometrioid_carcinoma |
c.553C>A; p.L185I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.772C>T; p.R258C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.721C>T; p.L241L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2431G>A; p.V811M; |
breast | carcinoma |
c.1662C>T; p.S554S; |
large_intestine | carcinoma; adenocarcinoma |
c.565G>A; p.A189T; 2:60542986-60542986 |
endometrium | carcinoma; endometrioid_carcinoma |
c.516T>C; p.C172C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.236A>C; p.K79T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1078delC; p.L360fs*61; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.563A>G; p.H188R; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1049G>A; p.S350N; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.426T>C; p.S142S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2294C>T; p.T765M; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1927G>A; p.D643N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1662C>A; p.S554S; |
breast | carcinoma |
c.609C>T; p.H203H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1236C>T; p.H412H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.241G>A; p.V81M; |
prostate | carcinoma; adenocarcinoma |
c.1651G>A; p.V551M; |
prostate | carcinoma; adenocarcinoma |
c.1078delC; p.L360fs*61; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2166G>A; p.T722T; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.914C>A; p.P305Q; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2218C>T; p.R740C; 2:60541333-60541333 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1991C>T; p.A664V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1593C>T; p.G531G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.12C>T; p.R4R; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1621C>T; p.R541C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.258C>G; p.S86S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2122G>T; p.G708*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.989C>A; p.P330Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.567A>G; p.A189A; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1122C>G; p.V374V; |
urinary_tract; bladder | carcinoma |
c.2219G>A; p.R740H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.564C>T; p.H188H; |
prostate | carcinoma; adenocarcinoma |
c.1394_1395CC>TT; p.S465F; |
skin; scalp | carcinoma; squamous_cell_carcinoma |
c.1746G>T; p.R582S; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.497A>T; p.E166V; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.121G>A; p.G41R; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.791C>T; p.P264L; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1942G>A; p.A648T; |
stomach | adenocarcinoma |