| Gene ID | 4100 |
| Symbol | MAGEA1 |
| Synonymous | CT1.1|MAGE1 |
| Full name | melanoma antigen family A1 |
| Gene description | 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 antigen family A, 1 (directs expression of antigen MZ2-E)|melanoma-associated antigen 1|melanoma-a |
| Cytoband | Xq28 |
| Gene type | protein-coding |
| Synonymous | MIM:300016; HGNC:HGNC:6796; Ensembl:ENSG00000198681; HPRD:02059; Vega:OTTHUMG00000024192 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.872G>T; p.R291L; 23:153183261-153183261 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.429C>A; p.I143I; 23:153182818-153182818 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.871C>T; p.R291C; 23:153183260-153183260 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.871C>T; p.R291C; 23:153183260-153183260 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.512T>C; p.L171P; 23:153182901-153182901 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.882C>T; p.F294F; 23:153183271-153183271 |
skin | malignant_melanoma | Substitution - coding silent |
c.528T>C; p.G176G; 23:153182917-153182917 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.528T>C; p.G176G; 23:153182917-153182917 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.712C>A; p.L238M; 23:153183101-153183101 |
central_nervous_system; brainstem | glioma; astrocytoma_Grade_II | Substitution - Missense |
c.332G>A; p.G111D; 23:153182721-153182721 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.559C>T; p.Q187*; 23:153182948-153182948 |
skin | malignant_melanoma | Substitution - Nonsense |
c.694T>C; p.Y232H; 23:153183083-153183083 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.694T>C; p.Y232H; 23:153183083-153183083 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.333T>G; p.G111G; 23:153182722-153182722 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.813C>T; p.L271L; 23:153183202-153183202 |
kidney | other; neoplasm | Substitution - coding silent |
c.432C>T; p.F144F; 23:153182821-153182821 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.666G>T; p.E222D; 23:153183055-153183055 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.833A>G; p.K278R; 23:153183222-153183222 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.564C>T; p.I188I; 23:153182953-153182953 |
skin | malignant_melanoma | Substitution - coding silent |
c.389A>G; p.E130G; 23:153182778-153182778 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.472G>C; p.D158H; 23:153182861-153182861 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.553G>A; p.D185N; 23:153182942-153182942 |
skin | malignant_melanoma | Substitution - Missense |
c.187G>C; p.A63P; 23:153182576-153182576 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.833A>C; p.K278T; 23:153183222-153183222 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.126C>T; p.T42T; 23:153182515-153182515 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.94A>G; p.T32A; 23:153182483-153182483 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.94A>G; p.T32A; 23:153182483-153182483 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.633_634GG>TT; p.E211_E212>D*; 23:153183022-153183023 |
lung | carcinoma; adenocarcinoma | Complex - compound substitution |
c.513T>C; p.L171L; 23:153182902-153182902 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.214C>T; p.R72*; 23:153182603-153182603 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.793C>T; p.L265L; 23:153183182-153183182 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - coding silent |
c.196A>G; p.T66A; 23:153182585-153182585 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.832A>G; p.K278E; 23:153183221-153183221 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.832A>G; p.K278E; 23:153183221-153183221 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.832A>G; p.K278E; 23:153183221-153183221 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.836T>C; p.V279A; 23:153183225-153183225 |
breast | carcinoma | Substitution - Missense |
c.463T>C; p.F155L; 23:153182852-153182852 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.463T>C; p.F155L; 23:153182852-153182852 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.510C>T; p.V170V; 23:153182899-153182899 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.495C>T; p.T165T; 23:153182884-153182884 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.495C>T; p.T165T; 23:153182884-153182884 |
pancreas | carcinoma | Substitution - coding silent |
c.664G>C; p.E222Q; 23:153183053-153183053 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.426G>A; p.E142E; 23:153182815-153182815 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.682G>A; p.E228K; 23:153183071-153183071 |
skin | malignant_melanoma | Substitution - Missense |
c.24G>A; p.L8L; 23:153182413-153182413 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.494C>A; p.T165N; 23:153182883-153182883 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.697G>T; p.G233W; 23:153183086-153183086 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.833A>T; p.K278I; 23:153183222-153183222 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.442T>C; p.S148P; 23:153182831-153182831 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.381A>C; p.E127D; 23:153182770-153182770 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.698G>T; p.G233V; 23:153183087-153183087 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.511C>T; p.L171F; 23:153182900-153182900 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.511C>T; p.L171F; 23:153182900-153182900 |
skin | malignant_melanoma | Substitution - Missense |
c.273T>C; p.S91S; 23:153182662-153182662 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.286T>C; p.S96P; 23:153182675-153182675 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.887C>T; p.S296F; 23:153183276-153183276 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.286T>C; p.S96P; 23:153182675-153182675 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.446A>G; p.E149G; 23:153182835-153182835 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.388G>A; p.E130K; 23:153182777-153182777 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.908G>A; p.R303K; 23:153183297-153183297 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.348A>G; p.K116K; 23:153182737-153182737 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.834A>G; p.K278K; 23:153183223-153183223 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.834A>G; p.K278K; 23:153183223-153183223 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.612G>A; p.M204I; 23:153183001-153183001 |
skin | malignant_melanoma | Substitution - Missense |
c.573G>T; p.K191N; 23:153182962-153182962 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.309T>G; p.T103T; 23:153182698-153182698 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.619G>A; p.G207S; 23:153183008-153183008 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.135G>T; p.E45D; 23:153182524-153182524 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.488A>C; p.D163A; 23:153182877-153182877 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.893G>A; p.R298H; 23:153183282-153183282 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.658G>A; p.V220M; 23:153183047-153183047 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.10G>C; p.E4Q; 23:153182399-153182399 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.272C>A; p.S91Y; 23:153182661-153182661 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.736G>A; p.E246K; 23:153183125-153183125 |
skin | malignant_melanoma | Substitution - Missense |
c.898G>A; p.A300T; 23:153183287-153183287 |
thyroid | carcinoma | Substitution - Missense |
c.736G>A; p.E246K; 23:153183125-153183125 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.469A>G; p.I157V; 23:153182858-153182858 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.196A>T; p.T66S; 23:153182585-153182585 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.469A>G; p.I157V; 23:153182858-153182858 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.723A>C; p.Q241H; 23:153183112-153183112 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.559C>G; p.Q187E; 23:153182948-153182948 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.440C>T; p.A147V; 23:153182829-153182829 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.799G>A; p.G267S; 23:153183188-153183188 |
skin | malignant_melanoma | Substitution - Missense |
c.879C>A; p.F293L; 23:153183268-153183268 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.319G>C; p.A107P; 23:153182708-153182708 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.194C>T; p.P65L; 23:153182583-153182583 |
skin | malignant_melanoma | Substitution - Missense |
c.187G>A; p.A63T; 23:153182576-153182576 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |