| General information | Literature | Expression | Regulation | Mutation | Homolog | Interaction |
Basic Information | |
|---|---|
Gene ID | 7380 |
Name | UPK3A |
Synonymous | uroplakin 3A;UPK3A;uroplakin 3A |
Definition | uroplakin 3|uroplakin III|uroplakin-3a |
Position | 22q13.31 |
Gene Type | protein-coding |
COSMIC somatic mutation [Top] | |||
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.419G>T; p.G140V; 22:45287382-45287382 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.460G>C; p.A154P; 22:45287423-45287423 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.460G>C; p.A154P; 22:45287423-45287423 |
thyroid | other; neoplasm | Substitution - Missense |
c.341C>T; p.P114L; 22:45287304-45287304 |
large_intestine; colon | NS | Substitution - Missense |
c.385C>T; p.L129L; 22:45287348-45287348 |
skin | malignant_melanoma | Substitution - coding silent |
c.385C>T; p.L129L; 22:45287348-45287348 |
skin | malignant_melanoma | Substitution - coding silent |
c.321G>C; p.L107L; 22:45287284-45287284 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.202G>A; p.D68N; 22:45286090-45286090 |
breast | carcinoma | Substitution - Missense |
c.699C>T; p.S233S; 22:45293308-45293308 |
skin | malignant_melanoma | Substitution - coding silent |
c.481G>A; p.E161K; 22:45287444-45287444 |
skin | malignant_melanoma | Substitution - Missense |
c.566A>T; p.N189I; 22:45289138-45289138 |
skin; leg | malignant_melanoma; nodular | Substitution - Missense |
c.778G>A; p.G260R; 22:45295633-45295633 |
skin | malignant_melanoma | Substitution - Missense |
c.685G>A; p.A229T; 22:45293294-45293294 |
skin | malignant_melanoma | Substitution - Missense |
c.725G>A; p.G242E; 22:45295580-45295580 |
skin | malignant_melanoma | Substitution - Missense |
c.694C>A; p.L232I; 22:45293303-45293303 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.402C>T; p.V134V; 22:45287365-45287365 |
thyroid | other; neoplasm | Substitution - coding silent |
c.444C>T; p.F148F; 22:45287407-45287407 |
skin | malignant_melanoma | Substitution - coding silent |
c.601C>T; p.P201S; 22:45293210-45293210 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.724delG; p.E243fs*27; 22:45295579-45295579 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.732G>A; p.T244T; 22:45295587-45295587 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.627C>T; p.I209I; 22:45293236-45293236 |
skin | malignant_melanoma | Substitution - coding silent |
c.76G>T; p.A26S; 22:45285964-45285964 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.134C>T; p.P45L; 22:45286022-45286022 |
skin | malignant_melanoma | Substitution - Missense |
c.660C>T; p.F220F; 22:45293269-45293269 |
skin | malignant_melanoma | Substitution - coding silent |
c.257G>A; p.G86D; 22:45287220-45287220 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.535C>G; p.Q179E; 22:45289107-45289107 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.711G>A; p.M237I; 22:45295566-45295566 |
skin | malignant_melanoma | Substitution - Missense |
c.773C>T; p.S258L; 22:45295628-45295628 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.549A>G; p.S183S; 22:45289121-45289121 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.287G>A; p.R96K; 22:45287250-45287250 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.154A>G; p.K52E; 22:45286042-45286042 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.731C>T; p.T244M; 22:45295586-45295586 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.66G>T; p.Q22H; 22:45285954-45285954 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.852G>A; p.K284K; 22:45295707-45295707 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.373G>A; p.A125T; 22:45287336-45287336 |
skin | malignant_melanoma | Substitution - Missense |
c.847A>G; p.S283G; 22:45295702-45295702 |
thyroid | carcinoma | Substitution - Missense |
c.615C>T; p.S205S; 22:45293224-45293224 |
breast | carcinoma | Substitution - coding silent |
c.395_396insC; p.L133fs*21; 22:45287358-45287359 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Insertion - Frameshift |
c.332G>A; p.S111N; 22:45287295-45287295 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.679G>T; p.A227S; 22:45293288-45293288 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.858A>G; p.Q286Q; 22:45295713-45295713 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.858A>G; p.Q286Q; 22:45295713-45295713 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.858A>G; p.Q286Q; 22:45295713-45295713 |
thyroid | other; neoplasm | Substitution - coding silent |
c.462A>C; p.A154A; 22:45287425-45287425 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |