Cancer metastasis database

Annotation category 5

Gene information

Gene ID 3133
Symbol

HLA-E

Synonymous

EA1.2|EA2.1|HLA-6.2|MHC|QA1

Full name

major histocompatibility complex, class I, E

Gene description

HLA class I histocompatibility antigen, E alpha chain|HLA class I histocompatibility antigen, alpha chain E|MHC HLA-E alpha-1|MHC HLA-E alpha-2.1|MHC class I antigen E|lymphocyte antigen

Cytoband

6p21.3

Gene type

protein-coding

Synonymous

MIM:143010; HGNC:HGNC:4962; Ensembl:ENSG00000204592; HPRD:00877; Vega:OTTHUMG00000031155

COSMIC somatic mutation

Mutation (CDS; AA; Chr)

Site

Histology

Mutation Type

c.737C>G; p.T246S; 6:30491263-30491263

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.674G>C; p.W225S; 6:30491200-30491200

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.870C>T; p.P290P; 6:30491396-30491396

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.862C>T; p.P288S; 6:30491388-30491388

 breastcarcinomaSubstitution - Missense

c.807G>T; p.V269V; 6:30491333-30491333

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.807G>T; p.V269V; 6:30491333-30491333

 upper_aerodigestive_tract; mouthcarcinomaSubstitution - coding silent

c.346C>T; p.L116L; 6:30490251-30490251

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.13A>G; p.T5A; 6:30489544-30489544

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.338C>A; p.S113Y; 6:30490243-30490243

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.249G>A; p.R83R; 6:30489910-30489910

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.96C>T; p.S32S; 6:30489757-30489757

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.171C>T; p.F57F; 6:30489832-30489832

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.763A>G; p.R255G; 6:30491289-30491289

 thyroidcarcinomaSubstitution - Missense

c.813T>A; p.P271P; 6:30491339-30491339

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.199G>T; p.V67L; 6:30489860-30489860

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.199G>T; p.V67L; 6:30489860-30489860

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.199G>T; p.V67L; 6:30489860-30489860

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.30C>G; p.L10L; 6:30489561-30489561

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.1033G>C; p.E345Q; 6:30492433-30492433

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.887-5C>T; p.?; 6:30491532-30491532

 skin; legmalignant_melanoma; nodularUnknown

c.890C>A; p.P297Q; 6:30491540-30491540

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.226G>A; p.E76K; 6:30489887-30489887

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1042G>A; p.D348N; 6:30492546-30492546

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.8A>G; p.D3G; 6:30489539-30489539

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1056G>T; p.G352G; 6:30492560-30492560

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.507T>C; p.N169N; 6:30490412-30490412

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.469G>A; p.V157M; 6:30490374-30490374

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.627C>T; p.H209H; 6:30491153-30491153

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.75C>A; p.S25S; 6:30489736-30489736

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.243G>T; p.W81C; 6:30489904-30489904

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.623C>T; p.T208I; 6:30491149-30491149

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.214T>A; p.W72R; 6:30489875-30489875

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.503C>G; p.S168*; 6:30490408-30490408

 breastcarcinomaSubstitution - Nonsense

c.66C>T; p.G22G; 6:30489727-30489727

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.650A>C; p.D217A; 6:30491176-30491176

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.220G>C; p.E74Q; 6:30489881-30489881

 breastcarcinoma; HER-positive_carcinomaSubstitution - Missense

c.836C>T; p.T279M; 6:30491362-30491362

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1038G>C; p.W346C; 6:30492542-30492542

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1069A>C; p.S357R; 6:30492573-30492573

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.320A>G; p.N107S; 6:30489981-30489981

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.805G>T; p.V269L; 6:30491331-30491331

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.294T>C; p.N98N; 6:30489955-30489955

 livercarcinoma; hepatocellular_carcinomaSubstitution - coding silent

c.294T>C; p.N98N; 6:30489955-30489955

 thyroidother; neoplasmSubstitution - coding silent

c.837G>C; p.T279T; 6:30491363-30491363

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.837G>C; p.T279T; 6:30491363-30491363

 prostatecarcinoma; adenocarcinomaSubstitution - coding silent

c.1037G>C; p.W346S; 6:30492541-30492541

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1037G>C; p.W346S; 6:30492541-30492541

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.823G>A; p.E275K; 6:30491349-30491349

 skinmalignant_melanomaSubstitution - Missense

c.920G>A; p.G307D; 6:30491570-30491570

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.807G>A; p.V269V; 6:30491333-30491333

 ovaryother; neoplasmSubstitution - coding silent

c.807G>A; p.V269V; 6:30491333-30491333

 ovaryother; neoplasmSubstitution - coding silent

c.1062G>A; p.E354E; 6:30492566-30492566

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.547G>A; p.D183N; 6:30490452-30490452

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.759G>T; p.E253D; 6:30491285-30491285

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.734A>G; p.H245R; 6:30491260-30491260

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.725G>A; p.G242E; 6:30491251-30491251

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.978T>C; p.A326A; 6:30491628-30491628

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - coding silent

c.840_848delCCATGTGCA; p.C280_Q283>W; 6:30491366-30491374

 breastcarcinomaComplex - deletion inframe

c.19C>T; p.L7F; 6:30489550-30489550

 livercarcinomaSubstitution - Missense

c.1061A>G; p.E354G; 6:30492565-30492565

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.641C>T; p.P214L; 6:30491167-30491167

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense