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

Basic Information

Gene ID

57599

Name

WDR48

Synonymous

WD repeat domain 48;WDR48;WD repeat domain 48

Definition

USP1 associated factor 1|USP1-associated factor 1|WD repeat endosomal protein|WD repeat-containing protein 48

Position

3p21.33

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

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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 0.17.

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.1705C>T; p.L569F; 3:39091661-39091661

 skinmalignant_melanomaSubstitution - Missense

c.1740A>T; p.L580F; 3:39091696-39091696

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.88C>T; p.R30*; 3:39063089-39063089

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.1173+8delT; p.?; 3:39079816-39079816

 stomachadenocarcinomaUnknown

c.39G>A; p.R13R; 3:39052064-39052064

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.39G>A; p.R13R; 3:39052064-39052064

 skinmalignant_melanomaSubstitution - coding silent

c.39G>A; p.R13R; 3:39052064-39052064

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1567C>T; p.R523C; 3:39088220-39088220

 skinmalignant_melanomaSubstitution - Missense

c.972+3A>G; p.?; 3:39077216-39077216

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaUnknown

c.1746-1G>C; p.?; 3:39093873-39093873

 upper_aerodigestive_tract; pharynxcarcinoma; squamous_cell_carcinomaUnknown

c.1969G>A; p.V657M; 3:39094678-39094678

 skinmalignant_melanomaSubstitution - Missense

c.669G>A; p.T223T; 3:39069741-39069741

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.669G>A; p.T223T; 3:39069741-39069741

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.668C>T; p.T223M; 3:39069740-39069740

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.330G>T; p.M110I; 3:39066609-39066609

 skin; head_neckmalignant_melanoma; superficial_spreadingSubstitution - Missense

c.1024T>A; p.C342S; 3:39078188-39078188

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.64C>T; p.R22*; 3:39063065-39063065

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.1024T>A; p.C342S; 3:39078188-39078188

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.237C>T; p.N79N; 3:39065858-39065858

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1343C>T; p.A448V; 3:39084706-39084706

 prostatecarcinomaSubstitution - Missense

c.1001C>T; p.A334V; 3:39078165-39078165

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1812T>G; p.I604M; 3:39093940-39093940

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.83A>G; p.Y28C; 3:39063084-39063084

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1007G>C; p.G336A; 3:39078171-39078171

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.1007G>C; p.G336A; 3:39078171-39078171

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1895C>T; p.A632V; 3:39094023-39094023

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.277G>T; p.A93S; 3:39066556-39066556

 autonomic_ganglianeuroblastomaSubstitution - Missense

c.277G>T; p.A93S; 3:39066556-39066556

 autonomic_ganglianeuroblastomaSubstitution - Missense

c.1345G>A; p.G449S; 3:39084708-39084708

 pancreascarcinomaSubstitution - Missense

c.504A>C; p.K168N; 3:39068793-39068793

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.148C>T; p.R50*; 3:39063149-39063149

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.1815C>T; p.I605I; 3:39093943-39093943

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1815C>T; p.I605I; 3:39093943-39093943

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1437G>A; p.V479V; 3:39085573-39085573

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.507T>C; p.D169D; 3:39068796-39068796

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.1858G>A; p.E620K; 3:39093986-39093986

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1326G>T; p.W442C; 3:39084689-39084689

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1036A>G; p.I346V; 3:39078200-39078200

 skinmalignant_melanomaSubstitution - Missense

c.916G>T; p.A306S; 3:39077157-39077157

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2017C>T; p.R673C; 3:39094726-39094726

 breastcarcinomaSubstitution - Missense

c.403G>T; p.A135S; 3:39066797-39066797

 livercarcinomaSubstitution - Missense

c.56A>G; p.Y19C; 3:39063057-39063057

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; polycythaemia_veraSubstitution - Missense

c.35_36GG>AA; p.R12Q; 3:39052060-39052061

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.303A>G; p.V101V; 3:39066582-39066582

 skinmalignant_melanomaSubstitution - coding silent

c.557G>T; p.G186V; 3:39068846-39068846

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1343C>A; p.A448D; 3:39084706-39084706

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.53C>T; p.S18F; 3:39063054-39063054

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1101C>T; p.H367H; 3:39079736-39079736

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1378+3G>T; p.?; 3:39084744-39084744

 livercarcinomaUnknown

c.1999G>A; p.D667N; 3:39094708-39094708

 skin; scalpcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1419T>C; p.Y473Y; 3:39085555-39085555

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1543G>T; p.V515L; 3:39088196-39088196

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1543G>T; p.V515L; 3:39088196-39088196

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.934A>G; p.I312V; 3:39077175-39077175

 breastcarcinomaSubstitution - Missense

c.745C>T; p.R249*; 3:39074798-39074798

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.303A>T; p.V101V; 3:39066582-39066582

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.114G>T; p.L38L; 3:39063115-39063115

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.15C>T; p.H5H; 3:39052040-39052040

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1833T>C; p.S611S; 3:39093961-39093961

 skinmalignant_melanomaSubstitution - coding silent

c.1755C>G; p.L585L; 3:39093883-39093883

 breastcarcinoma; ductal_carcinomaSubstitution - coding silent

c.1495C>T; p.R499*; 3:39088148-39088148

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.1473T>C; p.H491H; 3:39085609-39085609

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1508_1524del17; p.N504fs*10; 3:39088161-39088177

 ovarycarcinoma; serous_carcinomaDeletion - Frameshift

c.1701C>A; p.F567L; 3:39091657-39091657

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.585G>T; p.W195C; 3:39069657-39069657

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.221A>G; p.H74R; 3:39065842-39065842

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1522C>T; p.Q508*; 3:39088175-39088175

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.206C>T; p.A69V; 3:39065827-39065827

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1578C>T; p.F526F; 3:39088231-39088231

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1963C>T; p.R655*; 3:39094672-39094672

 stomachadenocarcinomaSubstitution - Nonsense

c.1743A>C; p.K581N; 3:39091699-39091699

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.859C>T; p.R287W; 3:39074912-39074912

 skinmalignant_melanomaSubstitution - Missense

c.1682A>G; p.K561R; 3:39091638-39091638

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1989G>C; p.K663N; 3:39094698-39094698

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1682A>G; p.K561R; 3:39091638-39091638

 pancreascarcinoma; adenocarcinomaSubstitution - Missense

c.8C>T; p.A3V; 3:39052033-39052033

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1332T>G; p.S444S; 3:39084695-39084695

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.43G>T; p.V15L; 3:39052068-39052068

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1707C>A; p.L569L; 3:39091663-39091663

 skinmalignant_melanomaSubstitution - coding silent

c.1870G>A; p.E624K; 3:39093998-39093998

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1870G>A; p.E624K; 3:39093998-39093998

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.871T>G; p.C291G; 3:39074924-39074924

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.577C>A; p.R193R; 3:39069649-39069649

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.577C>A; p.R193R; 3:39069649-39069649

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.1191T>C; p.D397D; 3:39084172-39084172

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.703C>T; p.R235C; 3:39074756-39074756

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.610A>G; p.M204V; 3:39069682-39069682

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

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