Pulmonary Arterial Hypertension KnowledgeBase (bioinfom_tsdb)
bioinfom_tsdb
Pulmonary Arterial Hypertension KnowledgeBase
General information | Literature | Expression | Regulation | Variant | Interaction

Basic Information

Gene ID

1643

Name

DDB2

Synonymous

damage-specific DNA binding protein 2, 48kDa;DDB2;damage-specific DNA binding protein 2, 48kDa

Definition

DDB p48 subunit|DNA damage-binding protein 2|UV-DDB 2|UV-damaged DNA-binding protein 2|damage-specific DNA-binding protein 2|xeroderma pigmentosum group E protein

Position

11p12-p11

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

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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

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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

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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

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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.519C>T; p.Y173Y; 11:47232876-47232876

 breastcarcinomaSubstitution - coding silent

c.293T>C; p.L98P; 11:47216886-47216886

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1024-4C>G; p.?; 11:47237833-47237833

 pancreascarcinomaUnknown

c.1125C>T; p.F375F; 11:47237938-47237938

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1162G>A; p.D388N; 11:47237975-47237975

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.817C>T; p.R273C; 11:47234871-47234871

 central_nervous_system; braingliomaSubstitution - Missense

c.733G>T; p.V245L; 11:47234787-47234787

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.983C>T; p.P328L; 11:47235372-47235372

 skinmalignant_melanomaSubstitution - Missense

c.1206C>A; p.P402P; 11:47238155-47238155

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.575G>A; p.R192Q; 11:47232932-47232932

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1067A>G; p.Y356C; 11:47237880-47237880

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.537A>T; p.G179G; 11:47232894-47232894

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1200C>A; p.F400L; 11:47238149-47238149

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1076C>T; p.P359L; 11:47237889-47237889

 skinmalignant_melanomaSubstitution - Missense

c.716G>A; p.R239K; 11:47234770-47234770

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.716G>A; p.R239K; 11:47234770-47234770

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.501C>T; p.L167L; 11:47232858-47232858

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.716G>A; p.R239K; 11:47234770-47234770

 breastcarcinomaSubstitution - Missense

c.575G>T; p.R192L; 11:47232932-47232932

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.499C>T; p.L167F; 11:47232856-47232856

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1112C>T; p.T371M; 11:47237925-47237925

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1112C>T; p.T371M; 11:47237925-47237925

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1155G>A; p.Q385Q; 11:47237968-47237968

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.1012A>C; p.T338P; 11:47235401-47235401

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.382G>A; p.A128T; 11:47216975-47216975

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.213G>A; p.R71R; 11:47216421-47216421

 kidneycarcinomaSubstitution - coding silent

c.1205C>T; p.P402L; 11:47238154-47238154

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.868C>T; p.P290S; 11:47234922-47234922

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.868C>T; p.P290S; 11:47234922-47234922

 NSmalignant_melanomaSubstitution - Missense

c.1208T>C; p.M403T; 11:47238157-47238157

 kidneyother; neoplasmSubstitution - Missense

c.210C>T; p.V70V; 11:47216418-47216418

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.462_463delAG; p.A155fs*10; 11:47232819-47232820

 kidneycarcinoma; clear_cell_renal_cell_carcinomaDeletion - Frameshift

c.158T>C; p.L53P; 11:47216366-47216366

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.936C>A; p.I312I; 11:47235325-47235325

 autonomic_ganglianeuroblastomaSubstitution - coding silent

c.292C>G; p.L98V; 11:47216885-47216885

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.965G>T; p.C322F; 11:47235354-47235354

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1135T>C; p.S379P; 11:47237948-47237948

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1208delT; p.M403fs*>25; 11:47238157-47238157

 skin; head_neckcarcinoma; squamous_cell_carcinomaDeletion - Frameshift

c.803A>C; p.K268T; 11:47234857-47234857

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1015_1016CC>TT; p.P339F; 11:47235404-47235405

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1277G>T; p.R426L; 11:47238842-47238842

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.97G>C; p.E33Q; 11:47215233-47215233

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1126G>A; p.D376N; 11:47237939-47237939

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.584C>T; p.A195V; 11:47232941-47232941

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.189G>A; p.L63L; 11:47216397-47216397

 breastcarcinomaSubstitution - coding silent

c.43A>C; p.I15L; 11:47215179-47215179

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.761G>T; p.C254F; 11:47234815-47234815

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.869C>T; p.P290L; 11:47234923-47234923

 skinmalignant_melanomaSubstitution - Missense

c.1187C>T; p.S396L; 11:47238000-47238000

 breastcarcinomaSubstitution - Missense

c.728_729delAG; p.K244fs*11; 11:47234782-47234783

 stomachcarcinoma; intestinal_adenocarcinomaDeletion - Frameshift

c.1281G>T; p.K427N; 11:47238846-47238846

 prostatecarcinomaSubstitution - Missense

c.379G>A; p.V127M; 11:47216972-47216972

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1116C>T; p.I372I; 11:47237929-47237929

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.231G>A; p.K77K; 11:47216439-47216439

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.689T>C; p.M230T; 11:47234659-47234659

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1024-1G>A; p.?; 11:47237836-47237836

 lungcarcinoma; squamous_cell_carcinomaUnknown

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