Pulmonary Arterial Hypertension KnowledgeBase (bioinfom_tsdb)
bioinfom_tsdb
Pulmonary Arterial Hypertension KnowledgeBase
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

We used uniprot protein structure data from ensemble BioMart database. The size of circle shows the relative mutation number.

The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers

Top

The non-synonymous mutational pattern in 17 major cancer types.
The synonymous mutational pattern in 17 major cancer types.

Loss of Function mutations compare to missense mutations

Top

Loss of Function mutations compare to missense mutation.
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 groups: 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; NS, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary tract

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

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1311A>C; p.R437S; 9:6482018-6482018

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.439C>T; p.H147Y; 9:6433968-6433968

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2199C>T; p.C733C; 9:6504628-6504628

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1128A>C; p.P376P; 9:6477776-6477776

breastcarcinomaSubstitution - coding silent

c.368G>A; p.G123D; 9:6421126-6421126

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2403A>G; p.G801G; 9:6506173-6506173

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.191G>A; p.G64E; 9:6420949-6420949

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2020G>T; p.A674S; 9:6500566-6500566

fallopian_tubecarcinoma; serous_carcinomaSubstitution - Missense

c.1392+3A>G; p.?; 9:6482102-6482102

large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.584C>T; p.T195M; 9:6434113-6434113

cervixcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1944G>A; p.K648K; 9:6499870-6499870

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.11A>G; p.Q4R; 9:6413501-6413501

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.71C>T; p.T24M; 9:6413561-6413561

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.673A>G; p.N225D; 9:6460601-6460601

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.316G>C; p.G106R; 9:6421074-6421074

breastcarcinomaSubstitution - Missense

c.26A>G; p.D9G; 9:6413516-6413516

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1696C>T; p.R566C; 9:6497289-6497289

livercarcinomaSubstitution - Missense

c.53A>G; p.D18G; 9:6413543-6413543

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.848T>A; p.V283E; 9:6460776-6460776

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1767+1G>T; p.?; 9:6497361-6497361

lungcarcinoma; adenocarcinomaUnknown

c.721G>T; p.E241*; 9:6460649-6460649

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.1422T>C; p.H474H; 9:6486850-6486850

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1901G>A; p.R634H; 9:6498151-6498151

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.962G>A; p.G321E; 9:6475489-6475489

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2405G>A; p.R802Q; 9:6506175-6506175

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2036A>C; p.K679T; 9:6500582-6500582

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1820G>A; p.R607H; 9:6498070-6498070

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.121G>C; p.E41Q; 9:6413611-6413611

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2268C>T; p.C756C; 9:6506038-6506038

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.695G>A; p.R232Q; 9:6460623-6460623

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2267G>A; p.C756Y; 9:6506037-6506037

oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.807C>A; p.T269T; 9:6460735-6460735

lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.695G>A; p.R232Q; 9:6460623-6460623

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2276G>A; p.R759H; 9:6506046-6506046

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1453G>T; p.G485W; 9:6486881-6486881

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.874G>T; p.G292*; 9:6475401-6475401

large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

c.874G>T; p.G292*; 9:6475401-6475401

large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

c.1115A>G; p.Y372C; 9:6477763-6477763

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.190G>T; p.G64*; 9:6420948-6420948

large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

c.1697G>A; p.R566H; 9:6497290-6497290

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.731T>C; p.V244A; 9:6460659-6460659

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1389T>C; p.V463V; 9:6482096-6482096

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.335C>G; p.S112C; 9:6421093-6421093

oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2196G>C; p.M732I; 9:6504625-6504625

ovaryother; neoplasmSubstitution - Missense

c.1099G>A; p.V367M; 9:6477747-6477747

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.176T>C; p.F59S; 9:6420934-6420934

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.2152G>C; p.V718L; 9:6500698-6500698

stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.2039C>T; p.A680V; 9:6500585-6500585

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1106A>T; p.Y369F; 9:6477754-6477754

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1923C>T; p.Y641Y; 9:6499849-6499849

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.154-2A>T; p.?; 9:6420910-6420910

kidneycarcinoma; clear_cell_renal_cell_carcinomaUnknown

c.1923C>T; p.Y641Y; 9:6499849-6499849

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.154-2A>T; p.?; 9:6420910-6420910

kidneycarcinoma; clear_cell_renal_cell_carcinomaUnknown

c.178G>T; p.D60Y; 9:6420936-6420936

pancreascarcinoma; acinar_carcinomaSubstitution - Missense

c.952T>A; p.F318I; 9:6475479-6475479

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2315G>A; p.R772Q; 9:6506085-6506085

soft_tissue; striated_musclerhabdomyosarcoma; embryonalSubstitution - Missense

c.1479T>G; p.G493G; 9:6486907-6486907

thyroidother; neoplasmSubstitution - coding silent

c.1479T>G; p.G493G; 9:6486907-6486907

thyroidother; neoplasmSubstitution - coding silent

c.1479T>G; p.G493G; 9:6486907-6486907

thyroidother; neoplasmSubstitution - coding silent

c.351C>T; p.A117A; 9:6421109-6421109

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1378A>T; p.R460*; 9:6482085-6482085

stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.260T>A; p.I87N; 9:6421018-6421018

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.876A>T; p.G292G; 9:6475403-6475403

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1182T>C; p.T394T; 9:6481664-6481664

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2267G>C; p.C756S; 9:6506037-6506037

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.2195T>C; p.M732T; 9:6504624-6504624

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2279_2280CC>TT; p.S760F; 9:6506049-6506050

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1307C>T; p.T436M; 9:6482014-6482014

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.618C>T; p.D206D; 9:6434147-6434147

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2338A>G; p.I780V; 9:6506108-6506108

oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1230A>C; p.K410N; 9:6481712-6481712

haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.2204G>T; p.C735F; 9:6504633-6504633

upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2210A>G; p.Q737R; 9:6504639-6504639

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1586C>A; p.T529K; 9:6493914-6493914

adrenal_gland; adrenal_glandadrenal_cortical_carcinoma; functioningSubstitution - Missense

c.251C>G; p.S84C; 9:6421009-6421009

cervixcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1076A>G; p.Q359R; 9:6477724-6477724

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1277delG; p.G427fs*39; 9:6481759-6481759

large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.1879C>T; p.R627W; 9:6498129-6498129

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1879C>T; p.R627W; 9:6498129-6498129

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.915C>T; p.I305I; 9:6475442-6475442

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.100G>A; p.A34T; 9:6413590-6413590

haematopoietic_and_lymphoid_tissuelymphoid_neoplasmSubstitution - Missense

c.216A>T; p.L72L; 9:6420974-6420974

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2222A>C; p.Y741S; 9:6504651-6504651

livercarcinomaSubstitution - Missense

c.858C>T; p.F286F; 9:6460786-6460786

skinmalignant_melanomaSubstitution - coding silent

c.81G>C; p.E27D; 9:6413571-6413571

haematopoietic_and_lymphoid_tissuelymphoid_neoplasmSubstitution - Missense


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