General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information |
|
---|---|
Gene ID | 115426 |
Name | UHRF2 |
Synonymous | ubiquitin-like with PHD and ring finger domains 2, E3 ubiquitin protein ligase;UHRF2;ubiquitin-like with PHD and ring finger domains 2, E3 ubiquitin protein ligase |
Definition | E3 ubiquitin-protein ligase UHRF2|Np95-like ring finger protein|RING finger protein 107|np95/ICBP90-like RING finger protein|nuclear protein 97|nuclear zinc finger protein NP97|ubiquitin-like PHD and RING finger domain-containing protein 2|ubiquitin-like, |
Position | 9p24.1 |
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 |
The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers | Top |
Loss of Function mutations compare to missense mutations | Top |
The ratio of the loss-of-function mutations over missense mutations is 0.05. |
The copy number variations for various cancers | Top |
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.230C>G; p.P77R; 9:6420988-6420988 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1311A>C; p.R437S; 9:6482018-6482018 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.439C>T; p.H147Y; 9:6433968-6433968 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2199C>T; p.C733C; 9:6504628-6504628 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1128A>C; p.P376P; 9:6477776-6477776 |
breast | carcinoma | Substitution - coding silent |
c.368G>A; p.G123D; 9:6421126-6421126 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2403A>G; p.G801G; 9:6506173-6506173 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.191G>A; p.G64E; 9:6420949-6420949 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2020G>T; p.A674S; 9:6500566-6500566 |
fallopian_tube | carcinoma; serous_carcinoma | Substitution - Missense |
c.1392+3A>G; p.?; 9:6482102-6482102 |
large_intestine; colon | carcinoma; adenocarcinoma | Unknown |
c.584C>T; p.T195M; 9:6434113-6434113 |
cervix | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1944G>A; p.K648K; 9:6499870-6499870 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.11A>G; p.Q4R; 9:6413501-6413501 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.71C>T; p.T24M; 9:6413561-6413561 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.673A>G; p.N225D; 9:6460601-6460601 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.316G>C; p.G106R; 9:6421074-6421074 |
breast | carcinoma | Substitution - Missense |
c.26A>G; p.D9G; 9:6413516-6413516 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1696C>T; p.R566C; 9:6497289-6497289 |
liver | carcinoma | Substitution - Missense |
c.53A>G; p.D18G; 9:6413543-6413543 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.848T>A; p.V283E; 9:6460776-6460776 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1767+1G>T; p.?; 9:6497361-6497361 |
lung | carcinoma; adenocarcinoma | Unknown |
c.721G>T; p.E241*; 9:6460649-6460649 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1422T>C; p.H474H; 9:6486850-6486850 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1901G>A; p.R634H; 9:6498151-6498151 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.962G>A; p.G321E; 9:6475489-6475489 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2405G>A; p.R802Q; 9:6506175-6506175 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2036A>C; p.K679T; 9:6500582-6500582 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1820G>A; p.R607H; 9:6498070-6498070 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.121G>C; p.E41Q; 9:6413611-6413611 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2268C>T; p.C756C; 9:6506038-6506038 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.695G>A; p.R232Q; 9:6460623-6460623 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2267G>A; p.C756Y; 9:6506037-6506037 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.807C>A; p.T269T; 9:6460735-6460735 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.695G>A; p.R232Q; 9:6460623-6460623 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2276G>A; p.R759H; 9:6506046-6506046 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1453G>T; p.G485W; 9:6486881-6486881 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.874G>T; p.G292*; 9:6475401-6475401 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.874G>T; p.G292*; 9:6475401-6475401 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1115A>G; p.Y372C; 9:6477763-6477763 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.190G>T; p.G64*; 9:6420948-6420948 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1697G>A; p.R566H; 9:6497290-6497290 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.731T>C; p.V244A; 9:6460659-6460659 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1389T>C; p.V463V; 9:6482096-6482096 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.335C>G; p.S112C; 9:6421093-6421093 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2196G>C; p.M732I; 9:6504625-6504625 |
ovary | other; neoplasm | Substitution - Missense |
c.1099G>A; p.V367M; 9:6477747-6477747 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.176T>C; p.F59S; 9:6420934-6420934 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.2152G>C; p.V718L; 9:6500698-6500698 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.2039C>T; p.A680V; 9:6500585-6500585 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1106A>T; p.Y369F; 9:6477754-6477754 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1923C>T; p.Y641Y; 9:6499849-6499849 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.154-2A>T; p.?; 9:6420910-6420910 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Unknown |
c.1923C>T; p.Y641Y; 9:6499849-6499849 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.154-2A>T; p.?; 9:6420910-6420910 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Unknown |
c.178G>T; p.D60Y; 9:6420936-6420936 |
pancreas | carcinoma; acinar_carcinoma | Substitution - Missense |
c.952T>A; p.F318I; 9:6475479-6475479 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2315G>A; p.R772Q; 9:6506085-6506085 |
soft_tissue; striated_muscle | rhabdomyosarcoma; embryonal | Substitution - Missense |
c.1479T>G; p.G493G; 9:6486907-6486907 |
thyroid | other; neoplasm | Substitution - coding silent |
c.1479T>G; p.G493G; 9:6486907-6486907 |
thyroid | other; neoplasm | Substitution - coding silent |
c.1479T>G; p.G493G; 9:6486907-6486907 |
thyroid | other; neoplasm | Substitution - coding silent |
c.351C>T; p.A117A; 9:6421109-6421109 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1378A>T; p.R460*; 9:6482085-6482085 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.260T>A; p.I87N; 9:6421018-6421018 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.876A>T; p.G292G; 9:6475403-6475403 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1182T>C; p.T394T; 9:6481664-6481664 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2267G>C; p.C756S; 9:6506037-6506037 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.2195T>C; p.M732T; 9:6504624-6504624 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2279_2280CC>TT; p.S760F; 9:6506049-6506050 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1307C>T; p.T436M; 9:6482014-6482014 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.618C>T; p.D206D; 9:6434147-6434147 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2338A>G; p.I780V; 9:6506108-6506108 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.1230A>C; p.K410N; 9:6481712-6481712 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.2204G>T; p.C735F; 9:6504633-6504633 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2210A>G; p.Q737R; 9:6504639-6504639 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1586C>A; p.T529K; 9:6493914-6493914 |
adrenal_gland; adrenal_gland | adrenal_cortical_carcinoma; functioning | Substitution - Missense |
c.251C>G; p.S84C; 9:6421009-6421009 |
cervix | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1076A>G; p.Q359R; 9:6477724-6477724 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1277delG; p.G427fs*39; 9:6481759-6481759 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1879C>T; p.R627W; 9:6498129-6498129 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1879C>T; p.R627W; 9:6498129-6498129 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.915C>T; p.I305I; 9:6475442-6475442 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.100G>A; p.A34T; 9:6413590-6413590 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | Substitution - Missense |
c.216A>T; p.L72L; 9:6420974-6420974 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2222A>C; p.Y741S; 9:6504651-6504651 |
liver | carcinoma | Substitution - Missense |
c.858C>T; p.F286F; 9:6460786-6460786 |
skin | malignant_melanoma | Substitution - coding silent |
c.81G>C; p.E27D; 9:6413571-6413571 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | Substitution - Missense |