| General information | Literature | Expression | Regulation | Variant | Interaction |
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Basic Information |
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|---|---|
Gene ID | 51720 |
Name | UIMC1 |
Synonymous | ubiquitin interaction motif containing 1;UIMC1;ubiquitin interaction motif containing 1 |
Definition | BRCA1-A complex subunit RAP80|receptor associated protein 80|receptor-associated protein 80|retinoid X receptor-interacting protein 110|retinoid x receptor interacting protein|ubiquitin interaction motif-containing protein 1 |
Position | 5q35.2 |
Gene Type | protein-coding |
Mutation summary: | Mutations in domains Mutational pattern in 17 major cancer types LoF vs missense mutations All the copy number variations from COSMIC database V72 All the mutations from COSMIC database V72 |
Mutation summary in protein domains | Top |
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The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers | Top |
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Loss of Function mutations compare to missense mutations | Top |
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| The ratio of the loss-of-function mutations over missense mutations is 0.13. |
The copy number variations for various cancers | Top |
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The copy number variations in 17 major cancer types: 1; Breast, 2; Central nervous system, 3; Cervix, 4; Endometrium, 5; Haematopoietic and lymphoid_tissue, 6; Kidney, 7; Large intestine, 8; Liver, 9; Lung, 10; Not specific, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary tract |
COSMIC somatic mutation [Top] | |||
|
Mutation (CDS; AA; Chr) |
Site |
Histology |
Mutation Type |
|---|---|---|---|
c.232C>T; p.Q78*; 5:176975396-176975396 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Nonsense |
c.1744T>C; p.C582R; 5:176908627-176908627 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2052C>T; p.S684S; 5:176905390-176905390 |
skin | malignant_melanoma | Substitution - coding silent |
c.1225A>C; p.T409P; 5:176958130-176958130 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1670T>C; p.I557T; 5:176911317-176911317 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.803A>G; p.Q268R; 5:176968952-176968952 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1029T>G; p.S343R; 5:176968726-176968726 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.286G>A; p.A96T; 5:176970813-176970813 |
NS | malignant_melanoma | Substitution - Missense |
c.1175A>G; p.E392G; 5:176968580-176968580 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.350G>T; p.S117I; 5:176970749-176970749 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1231G>A; p.E411K; 5:176958124-176958124 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1054G>T; p.D352Y; 5:176968701-176968701 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1942G>T; p.A648S; 5:176906018-176906018 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.365G>T; p.R122L; 5:176969699-176969699 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.180G>T; p.T60T; 5:176975448-176975448 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1556G>A; p.R519Q; 5:176943376-176943376 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.312G>A; p.E104E; 5:176970787-176970787 |
liver | carcinoma | Substitution - coding silent |
c.312G>A; p.E104E; 5:176970787-176970787 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.131C>T; p.S44F; 5:176982485-176982485 |
skin | malignant_melanoma | Substitution - Missense |
c.312G>A; p.E104E; 5:176970787-176970787 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - coding silent |
c.1620G>A; p.E540E; 5:176911367-176911367 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1555C>T; p.R519*; 5:176943377-176943377 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.461A>G; p.E154G; 5:176969603-176969603 |
breast | carcinoma | Substitution - Missense |
c.1492T>A; p.S498T; 5:176943440-176943440 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1344C>A; p.T448T; 5:176951573-176951573 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.2011C>T; p.R671C; 5:176905431-176905431 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.175A>C; p.K59Q; 5:176975453-176975453 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.143G>A; p.G48E; 5:176982473-176982473 |
skin | malignant_melanoma | Substitution - Missense |
c.2074T>C; p.L692L; 5:176905368-176905368 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.508_509delAT; p.I170fs*7; 5:176969246-176969247 |
endometrium | carcinoma; endometrioid_carcinoma | Deletion - Frameshift |
c.81T>C; p.S27S; 5:176982535-176982535 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.41C>A; p.S14Y; 5:176982575-176982575 |
ovary | other; neoplasm | Substitution - Missense |
c.364C>T; p.R122W; 5:176969700-176969700 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.747T>C; p.G249G; 5:176969008-176969008 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.364C>T; p.R122W; 5:176969700-176969700 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1912G>A; p.D638N; 5:176907114-176907114 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2034C>A; p.P678P; 5:176905408-176905408 |
prostate | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2103C>T; p.V701V; 5:176905339-176905339 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1643G>T; p.G548V; 5:176911344-176911344 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.90G>A; p.V30V; 5:176982526-176982526 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.463+4T>A; p.?; 5:176969597-176969597 |
ovary | other; neoplasm | Unknown |
c.419C>T; p.S140F; 5:176969645-176969645 |
skin | malignant_melanoma | Substitution - Missense |
c.1147A>C; p.S383R; 5:176968608-176968608 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.77G>C; p.S26T; 5:176982539-176982539 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.41C>T; p.S14F; 5:176982575-176982575 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1531T>C; p.C511R; 5:176943401-176943401 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1391C>T; p.P464L; 5:176951526-176951526 |
skin | malignant_melanoma | Substitution - Missense |
c.754_755insG; p.D252fs*4; 5:176969000-176969001 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.1094G>A; p.R365K; 5:176968661-176968661 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.991C>T; p.L331L; 5:176968764-176968764 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.510C>G; p.I170M; 5:176969245-176969245 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1786G>A; p.G596R; 5:176908585-176908585 |
skin; mucosal | malignant_melanoma | Substitution - Missense |
c.1871G>T; p.R624L; 5:176907155-176907155 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1871G>T; p.R624L; 5:176907155-176907155 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1813G>C; p.E605Q; 5:176908558-176908558 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma | Substitution - Missense |
c.1898A>G; p.E633G; 5:176907128-176907128 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1910C>T; p.S637L; 5:176907116-176907116 |
skin | malignant_melanoma | Substitution - Missense |
c.2106G>T; p.Q702H; 5:176905336-176905336 |
autonomic_ganglia | neuroblastoma | Substitution - Missense |
c.80C>A; p.S27Y; 5:176982536-176982536 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1979G>A; p.G660D; 5:176905463-176905463 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1304C>T; p.P435L; 5:176955994-176955994 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.522C>T; p.N174N; 5:176969233-176969233 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.142G>A; p.G48R; 5:176982474-176982474 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.142G>A; p.G48R; 5:176982474-176982474 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.899T>C; p.L300S; 5:176968856-176968856 |
skin | malignant_melanoma | Substitution - Missense |
c.1926G>T; p.K642N; 5:176906034-176906034 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1125T>C; p.D375D; 5:176968630-176968630 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1492T>G; p.S498A; 5:176943440-176943440 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2033C>T; p.P678L; 5:176905409-176905409 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1471G>A; p.E491K; 5:176943461-176943461 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.257C>G; p.A86G; 5:176970842-176970842 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1561G>A; p.A521T; 5:176943371-176943371 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.592T>A; p.S198T; 5:176969163-176969163 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.365G>A; p.R122Q; 5:176969699-176969699 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.365G>A; p.R122Q; 5:176969699-176969699 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1129C>T; p.Q377*; 5:176968626-176968626 |
skin; mucosal | malignant_melanoma | Substitution - Nonsense |
c.885C>T; p.V295V; 5:176968870-176968870 |
lung | carcinoma; small_cell_carcinoma | Substitution - coding silent |
c.413C>T; p.P138L; 5:176969651-176969651 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.198T>C; p.N66N; 5:176975430-176975430 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1920C>T; p.D640D; 5:176906040-176906040 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.228C>T; p.I76I; 5:176975400-176975400 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1654C>T; p.Q552*; 5:176911333-176911333 |
pancreas | carcinoma | Substitution - Nonsense |
c.228C>T; p.I76I; 5:176975400-176975400 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.144A>G; p.G48G; 5:176982472-176982472 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.720T>C; p.G240G; 5:176969035-176969035 |
skin | malignant_melanoma | Substitution - coding silent |
c.144A>G; p.G48G; 5:176982472-176982472 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.144A>G; p.G48G; 5:176982472-176982472 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1654C>T; p.Q552*; 5:176911333-176911333 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Nonsense |
c.1676+1G>A; p.?; 5:176911310-176911310 |
ovary | carcinoma; serous_carcinoma | Unknown |
c.2129A>T; p.K710I; 5:176905313-176905313 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.521A>T; p.N174I; 5:176969234-176969234 |
skin | malignant_melanoma | Substitution - Missense |
c.640G>A; p.V214I; 5:176969115-176969115 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1683G>T; p.E561D; 5:176908688-176908688 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2112T>C; p.G704G; 5:176905330-176905330 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2049T>G; p.V683V; 5:176905393-176905393 |
skin | malignant_melanoma | Substitution - coding silent |
c.1505A>C; p.Q502P; 5:176943427-176943427 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.739G>T; p.V247F; 5:176969016-176969016 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.1323A>G; p.E441E; 5:176955975-176955975 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.1297C>T; p.L433F; 5:176956001-176956001 |
skin | malignant_melanoma | Substitution - Missense |