| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 4100 |
Name | MAGEA1 |
Synonymous | CT1.1|MAGE1;melanoma antigen family A, 1 (directs expression of antigen MZ2-E);MAGEA1;melanoma antigen family A, 1 (directs expression of antigen MZ2-E) |
Definition | MAGE-1 antigen|antigen MZ2-E|cancer/testis antigen 1.1|cancer/testis antigen family 1, member 1|melanoma antigen MAGE-1|melanoma antigen family A 1|melanoma-associated antigen 1|melanoma-associated antigen MZ2-E |
Position | Xq28 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for MAGEA1 | ||
PCGP somatic mutation [Top] | ||
There is no record for MAGEA1 | ||
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.694T>C; p.Y232H; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia |
c.872G>T; p.R291L; |
lung | carcinoma; small_cell_carcinoma |
c.94A>G; p.T32A; |
ovary | carcinoma; serous_carcinoma |
c.723A>C; p.Q241H; |
oesophagus | carcinoma; adenocarcinoma |
c.426G>A; p.E142E; |
oesophagus | carcinoma; adenocarcinoma |
c.833A>C; p.K278T; 23:152135372-152135372 |
breast | carcinoma; ductal_carcinoma |
c.309T>G; p.T103T; |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma |
c.196A>G; p.T66A; |
lung | carcinoma; adenocarcinoma |
c.736G>A; p.E246K; |
lung | carcinoma; adenocarcinoma |
c.196A>T; p.T66S; |
lung | carcinoma; adenocarcinoma |
c.494C>A; p.T165N; |
lung | carcinoma; adenocarcinoma |
c.187G>C; p.A63P; 23:152136018-152136018 |
lung | carcinoma; non_small_cell_carcinoma |
c.348A>G; p.K116K; 23:152135857-152135857 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.511C>T; p.L171F; 23:152135694-152135694 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.528T>C; p.G176G; 23:152135677-152135677 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.471T>C; p.I157I; 23:152135734-152135734 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.444T>C; p.S148S; 23:152135761-152135761 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.441C>T; p.A147A; 23:152135764-152135764 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.288C>T; p.S96S; 23:152135917-152135917 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.833A>T; p.K278I; 23:152135372-152135372 |
ovary | carcinoma; serous_carcinoma |
c.633_634GG>TT; p.E211_E212>D*; |
lung | carcinoma; adenocarcinoma |
c.10G>C; p.E4Q; |
lung | carcinoma; squamous_cell_carcinoma |
c.388G>A; p.E130K; |
lung | carcinoma; squamous_cell_carcinoma |
c.559C>G; p.Q187E; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.319G>C; p.A107P; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.472G>C; p.D158H; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.836T>C; p.V279A; |
breast | carcinoma |
c.348A>G; p.K116K; 23:152135857-152135857 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.381A>C; p.E127D; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.528T>C; p.G176G; 23:152135677-152135677 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.834A>G; p.K278K; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.666G>T; p.E222D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.429C>A; p.I143I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.513T>C; p.L171L; |
large_intestine | carcinoma; adenocarcinoma |
c.214C>T; p.R72*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.833A>G; p.K278R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.332G>A; p.G111D; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.469A>G; p.I157V; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.286T>C; p.S96P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.879C>A; p.F293L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.286T>C; p.S96P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.832A>G; p.K278E; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.512T>C; p.L171P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.528T>C; p.G176G; 23:152135677-152135677 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.126C>T; p.T42T; |
urinary_tract; bladder | carcinoma |
c.619G>A; p.G207S; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.389A>G; p.E130G; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.272C>A; p.S91Y; |
endometrium | carcinoma; endometrioid_carcinoma |
c.495C>T; p.T165T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.832A>G; p.K278E; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.834A>G; p.K278K; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.442T>C; p.S148P; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.440C>T; p.A147V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.187G>A; p.A63T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.469A>G; p.I157V; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.832A>G; p.K278E; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.793C>T; p.L265L; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |