| Gene information | Literature | Expression | lncRNA | Mutation | Homolog |
Basic Information | |
|---|---|
Gene ID | 4582 |
Name | MUC1 |
Synonymous | mucin 1, cell surface associated;MUC1;mucin 1, cell surface associated |
Definition | DF3 antigen|H23 antigen|Medullary cystic kidney disease, autosomal dominant|breast carcinoma-associated antigen DF3|cancer antigen 15-3|carcinoma-associated mucin|episialin|krebs von den Lungen-6|mucin 1, transmembrane|mucin-1|peanut-reactive urinary muci |
Position | 1q21 |
Gene Type | protein-coding |
COSMIC confirmed somatic mutation [Top] | |||
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.174C>G; p.V58V; 1:155188271-155188271 |
autonomic_ganglia | neuroblastoma | Substitution - coding silent |
c.99A>G; p.G33G; 1:155192243-155192243 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.144T>C; p.S48S; 1:155192198-155192198 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.581T>C; p.V194A; 1:155187471-155187471 |
breast | carcinoma; ER-PR-positive_carcinoma | Substitution - Missense |
c.469G>T; p.V157F; 1:155187728-155187728 |
breast | carcinoma | Substitution - Missense |
c.206A>G; p.N69S; 1:155188239-155188239 |
breast | carcinoma | Substitution - Missense |
c.469G>A; p.V157I; 1:155187728-155187728 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.459G>A; p.T153T; 1:155187738-155187738 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.787A>C; p.N263H; 1:155186170-155186170 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.159+5G>A; p.?; 1:155192178-155192178 |
endometrium | carcinoma; endometrioid_carcinoma | Unknown |
c.462C>A; p.I154I; 1:155187735-155187735 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.98G>A; p.G33E; 1:155192244-155192244 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.617G>A; p.R206Q; 1:155187355-155187355 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.731G>A; p.R244H; 1:155187241-155187241 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.731G>A; p.R244H; 1:155187241-155187241 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.731G>A; p.R244H; 1:155187241-155187241 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.66G>A; p.T22T; 1:155192276-155192276 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.527G>A; p.G176D; 1:155187525-155187525 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.8C>T; p.P3L; 1:155192836-155192836 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.569C>T; p.A190V; 1:155187483-155187483 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.94G>T; p.G32C; 1:155192248-155192248 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.94G>T; p.G32C; 1:155192248-155192248 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.469G>A; p.V157I; 1:155187728-155187728 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.74G>A; p.G25D; 1:155192268-155192268 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.703C>T; p.R235C; 1:155187269-155187269 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.703C>T; p.R235C; 1:155187269-155187269 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.703C>T; p.R235C; 1:155187269-155187269 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.65C>G; p.T22R; 1:155192277-155192277 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.121C>A; p.Q41K; 1:155192221-155192221 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.621G>T; p.K207N; 1:155187351-155187351 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.539C>T; p.A180V; 1:155187513-155187513 |
liver | carcinoma | Substitution - Missense |
c.539C>T; p.A180V; 1:155187513-155187513 |
liver | carcinoma | Substitution - Missense |
c.646C>T; p.P216S; 1:155187326-155187326 |
liver | carcinoma | Substitution - Missense |
c.250_252delTAC; p.Y84delY; 1:155188193-155188195 |
liver | carcinoma | Deletion - In frame |
c.646C>T; p.P216S; 1:155187326-155187326 |
liver | carcinoma | Substitution - Missense |
c.731G>A; p.R244H; 1:155187241-155187241 |
liver | carcinoma | Substitution - Missense |
c.731G>A; p.R244H; 1:155187241-155187241 |
liver | carcinoma | Substitution - Missense |
c.230_231insACC; p.E77_D78insP; 1:155188214-155188215 |
lung | carcinoma; adenocarcinoma | Insertion - In frame |
c.81A>T; p.A27A; 1:155192261-155192261 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.98G>C; p.G33A; 1:155192244-155192244 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.36G>A; p.L12L; 1:155192808-155192808 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.400G>T; p.D134Y; 1:155187797-155187797 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.477G>A; p.V159V; 1:155187575-155187575 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.26_29delTCTT; p.F9fs*112; 1:155192815-155192818 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.539C>T; p.A180V; 1:155187513-155187513 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.410C>A; p.T137K; 1:155187787-155187787 |
pancreas | NS | Substitution - Missense |
c.636G>A; p.L212L; 1:155187336-155187336 |
pancreas | carcinoma | Substitution - coding silent |
c.636G>A; p.L212L; 1:155187336-155187336 |
pancreas | carcinoma; ductal_carcinoma | Substitution - coding silent |
c.459G>A; p.T153T; 1:155187738-155187738 |
skin | malignant_melanoma | Substitution - coding silent |
c.169G>A; p.G57R; 1:155188276-155188276 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.387C>A; p.T129T; 1:155187810-155187810 |
skin | malignant_melanoma | Substitution - coding silent |
c.727G>A; p.D243N; 1:155187245-155187245 |
skin; mucosal | malignant_melanoma | Substitution - Missense |
c.493C>T; p.P165S; 1:155187559-155187559 |
skin | malignant_melanoma | Substitution - Missense |
c.433G>A; p.E145K; 1:155187764-155187764 |
skin; trunk | malignant_melanoma | Substitution - Missense |
c.445C>T; p.R149*; 1:155187752-155187752 |
skin; mucosal | malignant_melanoma | Substitution - Nonsense |
c.97G>A; p.G33R; 1:155192245-155192245 |
skin | malignant_melanoma | Substitution - Missense |
c.815A>G; p.N272S; 1:155186142-155186142 |
skin | malignant_melanoma | Substitution - Missense |
c.667C>T; p.P223S; 1:155187305-155187305 |
skin | malignant_melanoma | Substitution - Missense |
c.235C>T; p.P79S; 1:155188210-155188210 |
skin; nipple | malignant_melanoma | Substitution - Missense |
c.508_526del19; p.S170fs*49; 1:155187526-155187544 |
stomach | adenocarcinoma | Deletion - Frameshift |
c.308G>A; p.G103D; 1:155188038-155188038 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |