| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 3106 |
Name | HLA-B |
Synonymous | AS|HLAB|SPDA1;major histocompatibility complex, class I, B;HLA-B;major histocompatibility complex, class I, B |
Definition | HLA class I histocompatibility antigen, B alpha chain|MHC Class I HLA heavy chain|MHC HLA-B cell surface glycoprotein|MHC HLA-B transmembrane glycoprotein|MHC class I antigen GN00104|MHC class I antigen HLA-B heavy chain|MHC class I antigen SHCHA|leukocyt |
Position | 6p21.3 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for HLA-B | ||
PCGP somatic mutation [Top] | ||
There is no record for HLA-B | ||
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.893_894GG>AA; p.W298*; |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma |
c.714_715delAC; p.L239fs*14; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; NK-T_cell_lymphoma |
c.261C>G; p.N87K; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; plasma_cell_myeloma |
c.259A>G; p.N87D; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; plasma_cell_myeloma |
c.700C>G; p.P234A; |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.626_627insC; p.T211fs*10; |
oesophagus | carcinoma; adenocarcinoma |
c.626_627insC; p.T211fs*10; |
oesophagus | carcinoma; adenocarcinoma |
c.343+1G>A; p.?; |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma |
c.620-1G>C; p.?; |
lung | carcinoma; adenocarcinoma |
c.270C>T; p.I90I; |
lung | carcinoma; adenocarcinoma |
c.986C>T; p.A329V; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.985G>A; p.A329T; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.986C>T; p.A329V; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.986C>T; p.A329V; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.985G>A; p.A329T; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.986C>T; p.A329V; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.985G>A; p.A329T; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.25G>C; p.V9L; |
central_nervous_system; cerebellum | glioma; ependymoma |
c.956C>A; p.A319E; |
lung | carcinoma; squamous_cell_carcinoma |
c.782G>C; p.G261A; |
lung | carcinoma; adenocarcinoma |
c.240delG; p.P81fs*70; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.206_207insT; p.E69fs*30; |
breast | carcinoma |
c.895+1G>T; p.?; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.206_207insT; p.E69fs*30; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.206_207insC; p.E69fs*30; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.204delA; p.E69fs*8; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.907C>T; p.Q303*; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.19C>G; p.R7G; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.933_934insT; p.V312fs*22; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.206_207insC; p.E69fs*30; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.204delA; p.E69fs*8; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.206_207insT; p.E69fs*30; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.204delA; p.E69fs*8; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.863A>T; p.E288V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.862G>T; p.E288*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.206_207insC; p.E69fs*30; |
breast | carcinoma |
c.334A>C; p.S112R; |
endometrium | carcinoma; endometrioid_carcinoma |
c.757G>A; p.E253K; |
endometrium | carcinoma; endometrioid_carcinoma |
c.721T>C; p.W241R; |
endometrium | carcinoma; endometrioid_carcinoma |
c.312C>A; p.N104K; |
prostate | carcinoma; adenocarcinoma |
c.419A>C; p.Y140S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.626delC; p.P209fs*5; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.343+1G>A; p.?; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.924C>T; p.I308I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.635_636delAC; p.H212fs*8; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.681C>A; p.C227*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.917delT; p.V306fs*13; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.19C>G; p.R7G; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.206_207insC; p.E69fs*30; |
breast | carcinoma |
c.206_207insC; p.E69fs*30; |
breast | carcinoma |
c.873G>A; p.P291P; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.292G>T; p.D98Y; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.401_403delTCC; p.L134delL; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1002G>A; p.R334R; |
urinary_tract; bladder | carcinoma |