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

Basic Information

Gene ID

7405

Name

UVRAG

Synonymous

UV radiation resistance associated;UVRAG;UV radiation resistance associated

Definition

UV radiation resistance-associated gene protein|beclin 1 binding protein|disrupted in heterotaxy

Position

11q13.5

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 0.08.

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.314G>A; p.R105H; 11:75879922-75879922

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1603_1604CC>TA; p.P535Y; 11:76140916-76140917

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1520C>T; p.A507V; 11:76140833-76140833

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1699G>T; p.D567Y; 11:76141012-76141012

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.787G>A; p.A263T; 11:75983474-75983474

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.178C>G; p.Q60E; 11:75851943-75851943

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.274C>T; p.P92S; 11:75879882-75879882

 breastcarcinomaSubstitution - Missense

c.253G>A; p.V85M; 11:75861763-75861763

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; plasma_cell_myelomaSubstitution - Missense

c.1308A>G; p.L436L; 11:76115926-76115926

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1308A>G; p.L436L; 11:76115926-76115926

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.870G>A; p.K290K; 11:76004048-76004048

 skinmalignant_melanomaSubstitution - coding silent

c.1296T>G; p.N432K; 11:76065779-76065779

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2099G>T; p.*700L; 11:76141412-76141412

 lungcarcinoma; adenocarcinomaNonstop extension

c.266C>T; p.S89F; 11:75861776-75861776

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1908C>A; p.I636I; 11:76141221-76141221

 skinmalignant_melanomaSubstitution - coding silent

c.1935A>T; p.S645S; 11:76141248-76141248

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.1936G>C; p.G646R; 11:76141249-76141249

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1936G>C; p.G646R; 11:76141249-76141249

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.1999G>A; p.E667K; 11:76141312-76141312

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1936G>C; p.G646R; 11:76141249-76141249

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.857T>G; p.L286R; 11:76004035-76004035

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1930G>A; p.A644T; 11:76141243-76141243

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1897G>A; p.E633K; 11:76141210-76141210

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.357T>G; p.G119G; 11:75879965-75879965

 breastcarcinomaSubstitution - coding silent

c.796C>T; p.H266Y; 11:75983483-75983483

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1929C>T; p.F643F; 11:76141242-76141242

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1131C>T; p.F377F; 11:76016885-76016885

 skinmalignant_melanomaSubstitution - coding silent

c.1168G>T; p.G390W; 11:76016922-76016922

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1168G>T; p.G390W; 11:76016922-76016922

 large_intestine; coloncarcinomaSubstitution - Missense

c.1168G>T; p.G390W; 11:76016922-76016922

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1444A>G; p.S482G; 11:76140757-76140757

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.467G>T; p.G156V; 11:75888863-75888863

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.949C>T; p.R317C; 11:76007571-76007571

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.949C>T; p.R317C; 11:76007571-76007571

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1661C>T; p.S554F; 11:76140974-76140974

 skinmalignant_melanomaSubstitution - Missense

c.1005A>G; p.E335E; 11:76008812-76008812

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1621G>A; p.E541K; 11:76140934-76140934

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1858G>A; p.V620I; 11:76141171-76141171

 skinmalignant_melanomaSubstitution - Missense

c.325T>C; p.S109P; 11:75879933-75879933

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.225G>T; p.K75N; 11:75851990-75851990

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1574C>T; p.S525L; 11:76140887-76140887

 livercarcinomaSubstitution - Missense

c.1574C>T; p.S525L; 11:76140887-76140887

 livercarcinomaSubstitution - Missense

c.700delA; p.S237fs*6; 11:75983387-75983387

 stomachcarcinoma; intestinal_adenocarcinomaDeletion - Frameshift

c.700delA; p.S237fs*6; 11:75983387-75983387

 stomachcarcinoma; intestinal_adenocarcinomaDeletion - Frameshift

c.1189G>T; p.D397Y; 11:76016943-76016943

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.700delA; p.S237fs*6; 11:75983387-75983387

 stomachcarcinoma; intestinal_adenocarcinomaDeletion - Frameshift

c.1771G>A; p.G591R; 11:76141084-76141084

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1608C>T; p.S536S; 11:76140921-76140921

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1979C>A; p.A660D; 11:76141292-76141292

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.292G>A; p.D98N; 11:75879900-75879900

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.292G>A; p.D98N; 11:75879900-75879900

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.292G>A; p.D98N; 11:75879900-75879900

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1189G>C; p.D397H; 11:76016943-76016943

 cervixcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.279G>A; p.T93T; 11:75879887-75879887

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.508G>T; p.G170C; 11:75911954-75911954

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1743T>C; p.P581P; 11:76141056-76141056

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.151C>A; p.R51R; 11:75851916-75851916

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.479G>A; p.G160E; 11:75888875-75888875

 skinmalignant_melanomaSubstitution - Missense

c.778C>T; p.R260W; 11:75983465-75983465

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.359G>A; p.G120E; 11:75879967-75879967

 cervixcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2091C>T; p.S697S; 11:76141404-76141404

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.273T>C; p.N91N; 11:75879881-75879881

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.653A>C; p.K218T; 11:75961503-75961503

 central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaSubstitution - Missense

c.653A>C; p.K218T; 11:75961503-75961503

 central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaSubstitution - Missense

c.574G>A; p.D192N; 11:75912020-75912020

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1619C>T; p.T540I; 11:76140932-76140932

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.128G>A; p.R43Q; 11:75851893-75851893

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.313C>T; p.R105C; 11:75879921-75879921

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.128G>A; p.R43Q; 11:75851893-75851893

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.128G>A; p.R43Q; 11:75851893-75851893

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.734T>G; p.L245W; 11:75983421-75983421

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.734T>G; p.L245W; 11:75983421-75983421

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.155A>G; p.N52S; 11:75851920-75851920

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1519G>A; p.A507T; 11:76140832-76140832

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.329T>C; p.V110A; 11:75879937-75879937

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.329T>C; p.V110A; 11:75879937-75879937

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.329T>C; p.V110A; 11:75879937-75879937

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.329T>C; p.V110A; 11:75879937-75879937

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.329T>C; p.V110A; 11:75879937-75879937

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.115C>T; p.Q39*; 11:75815522-75815522

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasmSubstitution - Nonsense

c.1143C>G; p.P381P; 11:76016897-76016897

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.700_701insA; p.S237fs*2; 11:75983387-75983388

 stomachcarcinoma; intestinal_adenocarcinomaInsertion - Frameshift

c.1821G>A; p.G607G; 11:76141134-76141134

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1682A>G; p.N561S; 11:76140995-76140995

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1497A>G; p.P499P; 11:76140810-76140810

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.2012G>A; p.G671E; 11:76141325-76141325

 skinmalignant_melanomaSubstitution - Missense

c.1823C>T; p.S608F; 11:76141136-76141136

 skinmalignant_melanomaSubstitution - Missense

c.1823C>T; p.S608F; 11:76141136-76141136

 skinmalignant_melanomaSubstitution - Missense

c.1484_1485GG>AA; p.G495E; 11:76140797-76140798

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.118C>T; p.R40W; 11:75851883-75851883

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2020G>A; p.E674K; 11:76141333-76141333

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.944C>T; p.T315I; 11:76007566-76007566

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1728C>T; p.H576H; 11:76141041-76141041

 oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1683C>A; p.N561K; 11:76140996-76140996

 skinmalignant_melanomaSubstitution - Missense

c.1683C>A; p.N561K; 11:76140996-76140996

 skinmalignant_melanomaSubstitution - Missense

c.339C>A; p.F113L; 11:75879947-75879947

 skinmalignant_melanomaSubstitution - Missense

c.1326A>G; p.L442L; 11:76115944-76115944

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.157A>G; p.I53V; 11:75851922-75851922

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.157A>G; p.I53V; 11:75851922-75851922

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.157A>G; p.I53V; 11:75851922-75851922

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.856C>T; p.L286F; 11:76004034-76004034

 skin; extremitymalignant_melanomaSubstitution - Missense

c.141C>T; p.N47N; 11:75851906-75851906

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.1342C>T; p.R448W; 11:76115960-76115960

 pancreascarcinoma; ductal_carcinomaSubstitution - Missense

c.1342C>T; p.R448W; 11:76115960-76115960

 pancreascarcinomaSubstitution - Missense

c.480A>G; p.G160G; 11:75888876-75888876

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.584C>T; p.S195F; 11:75912030-75912030

 breastcarcinomaSubstitution - Missense

c.584C>T; p.S195F; 11:75912030-75912030

 skinmalignant_melanomaSubstitution - Missense

c.1620C>T; p.T540T; 11:76140933-76140933

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.330G>A; p.V110V; 11:75879938-75879938

 skinmalignant_melanomaSubstitution - coding silent

c.1169G>T; p.G390V; 11:76016923-76016923

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2092G>A; p.D698N; 11:76141405-76141405

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.2092G>A; p.D698N; 11:76141405-76141405

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1487T>A; p.I496N; 11:76140800-76140800

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.700_701delAA; p.S237fs*1; 11:75983387-75983388

 stomachcarcinoma; intestinal_adenocarcinomaDeletion - Frameshift

c.988C>G; p.P330A; 11:76007610-76007610

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.988C>G; p.P330A; 11:76007610-76007610

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1759G>T; p.E587*; 11:76141072-76141072

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Nonsense

c.1841C>T; p.P614L; 11:76141154-76141154

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.443G>A; p.R148Q; 11:75888839-75888839

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.152G>A; p.R51Q; 11:75851917-75851917

 central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaSubstitution - Missense

c.475G>A; p.D159N; 11:75888871-75888871

 central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaSubstitution - Missense

c.443G>A; p.R148Q; 11:75888839-75888839

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.443G>A; p.R148Q; 11:75888839-75888839

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.443G>A; p.R148Q; 11:75888839-75888839

 eye; uveal_tractmalignant_melanoma; mixedSubstitution - Missense

c.1343G>A; p.R448Q; 11:76115961-76115961

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1094G>T; p.G365V; 11:76016848-76016848

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2075G>T; p.R692L; 11:76141388-76141388

 livercarcinomaSubstitution - Missense

c.2075G>T; p.R692L; 11:76141388-76141388

 livercarcinomaSubstitution - Missense

c.792A>G; p.L264L; 11:75983479-75983479

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.1361T>C; p.L454P; 11:76115979-76115979

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.1345C>T; p.Q449*; 11:76115963-76115963

 livercarcinomaSubstitution - Nonsense

c.1345C>T; p.Q449*; 11:76115963-76115963

 livercarcinomaSubstitution - Nonsense

c.1345C>T; p.Q449*; 11:76115963-76115963

 livercarcinomaSubstitution - Nonsense

c.2071C>T; p.R691C; 11:76141384-76141384

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.245G>A; p.R82K; 11:75861755-75861755

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1828A>G; p.S610G; 11:76141141-76141141

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1211C>T; p.T404M; 11:76016965-76016965

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

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