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

Basic Information

Gene ID

90249

Name

UNC5A

Synonymous

unc-5 homolog A (C. elegans);UNC5A;unc-5 homolog A (C. elegans)

Definition

netrin receptor UNC5A|netrin receptor Unc5h1|protein unc-5 homolog 1|protein unc-5 homolog A|unc-5 homolog 1|unc5 (C.elegans homolog) a

Position

5q35.2

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 0.14.

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.1185_1186insA; p.N396fs*23; 5:176874373-176874374

 lungcarcinoma; adenocarcinomaInsertion - Frameshift

c.1517G>A; p.G506E; 5:176877585-176877585

 skinmalignant_melanomaSubstitution - Missense

c.2027C>T; p.P676L; 5:176878482-176878482

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2185-10C>G; p.?; 5:176879300-176879300

 pancreascarcinoma; adenocarcinomaUnknown

c.1358G>A; p.R453Q; 5:176874546-176874546

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - Missense

c.682G>A; p.A228T; 5:176868925-176868925

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2399C>A; p.T800K; 5:176879756-176879756

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.663C>T; p.C221C; 5:176868906-176868906

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.2225C>T; p.A742V; 5:176879350-176879350

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.306G>T; p.M102I; 5:176868143-176868143

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.492G>A; p.Q164Q; 5:176868616-176868616

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1870-1G>A; p.?; 5:176878243-176878243

 endometriumcarcinoma; endometrioid_carcinomaUnknown

c.893C>G; p.S298C; 5:176873974-176873974

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.632C>T; p.A211V; 5:176868875-176868875

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.632C>T; p.A211V; 5:176868875-176868875

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1387C>T; p.L463F; 5:176877200-176877200

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.913C>T; p.L305F; 5:176873994-176873994

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.721+5G>T; p.?; 5:176868969-176868969

 livercarcinomaUnknown

c.2036A>G; p.H679R; 5:176878491-176878491

 stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Missense

c.280G>C; p.D94H; 5:176862833-176862833

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1456G>A; p.E486K; 5:176877269-176877269

 skin; handcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2431C>T; p.H811Y; 5:176879788-176879788

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1669C>A; p.H557N; 5:176877927-176877927

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.821G>A; p.G274E; 5:176870469-176870469

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2028C>T; p.P676P; 5:176878483-176878483

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.2442C>G; p.N814K; 5:176879799-176879799

 skin; scalpcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1751C>T; p.A584V; 5:176878009-176878009

 skinmalignant_melanomaSubstitution - Missense

c.223T>C; p.F75L; 5:176862776-176862776

 livercarcinomaSubstitution - Missense

c.1455G>A; p.P485P; 5:176877268-176877268

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.2200G>C; p.E734Q; 5:176879325-176879325

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1455G>A; p.P485P; 5:176877268-176877268

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.702C>T; p.S234S; 5:176868945-176868945

 breastcarcinomaSubstitution - coding silent

c.1079A>T; p.N360I; 5:176874267-176874267

 thyroidother; neoplasmSubstitution - Missense

c.913C>A; p.L305I; 5:176873994-176873994

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2191A>G; p.R731G; 5:176879316-176879316

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.865A>G; p.T289A; 5:176870513-176870513

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2194T>C; p.F732L; 5:176879319-176879319

 skinmalignant_melanomaSubstitution - Missense

c.378C>A; p.C126*; 5:176868215-176868215

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Nonsense

c.765G>A; p.G255G; 5:176870413-176870413

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1220G>A; p.R407H; 5:176874408-176874408

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1779C>T; p.L593L; 5:176878037-176878037

 oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1418G>A; p.G473E; 5:176877231-176877231

 skinmalignant_melanomaSubstitution - Missense

c.2401G>T; p.A801S; 5:176879758-176879758

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2137G>A; p.V713M; 5:176878592-176878592

 skin; scalpcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1258G>A; p.E420K; 5:176874446-176874446

 skinmalignant_melanomaSubstitution - Missense

c.1462G>A; p.V488M; 5:176877275-176877275

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.870T>C; p.S290S; 5:176870518-176870518

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.1528G>A; p.V510I; 5:176877596-176877596

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1528G>A; p.V510I; 5:176877596-176877596

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2484C>T; p.G828G; 5:176879841-176879841

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1266C>T; p.F422F; 5:176874454-176874454

 stomachadenocarcinomaSubstitution - coding silent

c.2403C>A; p.A801A; 5:176879760-176879760

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.2250C>A; p.P750P; 5:176879375-176879375

 upper_aerodigestive_tract; pharynxcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.568G>T; p.V190L; 5:176868811-176868811

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.222C>G; p.F74L; 5:176862775-176862775

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.487G>C; p.E163Q; 5:176868611-176868611

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1285C>G; p.Q429E; 5:176874473-176874473

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2385C>T; p.S795S; 5:176879742-176879742

 skinmalignant_melanomaSubstitution - coding silent

c.856C>A; p.R286S; 5:176870504-176870504

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.1084C>A; p.H362N; 5:176874272-176874272

 thyroidother; neoplasmSubstitution - Missense

c.293-1G>T; p.?; 5:176868129-176868129

 endometriumcarcinoma; endometrioid_carcinomaUnknown

c.1429G>A; p.E477K; 5:176877242-176877242

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1429G>A; p.E477K; 5:176877242-176877242

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.914T>G; p.L305R; 5:176873995-176873995

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.1593G>A; p.W531*; 5:176877661-176877661

 skinmalignant_melanomaSubstitution - Nonsense

c.1587C>G; p.D529E; 5:176877655-176877655

 thyroidcarcinomaSubstitution - Missense

c.1260G>T; p.E420D; 5:176874448-176874448

 skinmalignant_melanomaSubstitution - Missense

c.1091T>C; p.L364P; 5:176874279-176874279

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.2270T>C; p.F757S; 5:176879395-176879395

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.339C>T; p.V113V; 5:176868176-176868176

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1727G>A; p.G576D; 5:176877985-176877985

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1617G>A; p.S539S; 5:176877685-176877685

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1395delC; p.P467fs*22; 5:176877208-176877208

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.815G>A; p.R272H; 5:176870463-176870463

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2217G>T; p.E739D; 5:176879342-176879342

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.443G>A; p.R148H; 5:176868567-176868567

 pancreascarcinomaSubstitution - Missense

c.1094C>T; p.T365I; 5:176874282-176874282

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2083G>A; p.E695K; 5:176878538-176878538

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2083G>A; p.E695K; 5:176878538-176878538

 upper_aerodigestive_tract; mouthcarcinomaSubstitution - Missense

c.1198C>A; p.L400I; 5:176874386-176874386

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1415G>T; p.R472L; 5:176877228-176877228

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1357C>T; p.R453W; 5:176874545-176874545

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1540C>T; p.R514W; 5:176877608-176877608

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1182C>G; p.L394L; 5:176874370-176874370

 livercarcinomaSubstitution - coding silent

c.1540C>T; p.R514W; 5:176877608-176877608

 pancreascarcinomaSubstitution - Missense

c.293G>A; p.G98E; 5:176868130-176868130

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.442C>A; p.R148S; 5:176868566-176868566

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.338T>C; p.V113A; 5:176868175-176868175

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.512G>A; p.R171H; 5:176868636-176868636

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.512G>A; p.R171H; 5:176868636-176868636

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.512G>A; p.R171H; 5:176868636-176868636

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2057G>A; p.R686Q; 5:176878512-176878512

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.267C>T; p.I89I; 5:176862820-176862820

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1226C>T; p.T409I; 5:176874414-176874414

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2020-1G>A; p.?; 5:176878474-176878474

 kidneycarcinoma; clear_cell_renal_cell_carcinomaUnknown

c.720C>T; p.Y240Y; 5:176868963-176868963

 pancreascarcinoma; ductal_carcinomaSubstitution - coding silent

c.2020-1G>A; p.?; 5:176878474-176878474

 kidneycarcinoma; papillary_renal_cell_carcinomaUnknown

c.1947C>A; p.Y649*; 5:176878321-176878321

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.1338C>T; p.T446T; 5:176874526-176874526

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.1984T>A; p.S662T; 5:176878358-176878358

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2324C>T; p.A775V; 5:176879449-176879449

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1729C>T; p.R577C; 5:176877987-176877987

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.355C>A; p.L119M; 5:176868192-176868192

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.559G>A; p.E187K; 5:176868802-176868802

 skinmalignant_melanomaSubstitution - Missense

c.1205_1216del12; p.P402_G406>R; 5:176874393-176874404

 large_intestinecarcinoma; adenocarcinomaComplex - deletion inframe

c.453C>T; p.F151F; 5:176868577-176868577

 skin; legmalignant_melanomaSubstitution - coding silent

c.933C>G; p.A311A; 5:176874014-176874014

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.933C>G; p.A311A; 5:176874014-176874014

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - coding silent

c.2430G>A; p.R810R; 5:176879787-176879787

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1051G>T; p.V351F; 5:176874132-176874132

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.537C>T; p.A179A; 5:176868661-176868661

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.580C>A; p.L194M; 5:176868823-176868823

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1283C>A; p.T428N; 5:176874471-176874471

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1490C>A; p.T497N; 5:176877558-176877558

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2445C>T; p.G815G; 5:176879802-176879802

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.2333G>A; p.R778Q; 5:176879458-176879458

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.2333G>A; p.R778Q; 5:176879458-176879458

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1537A>G; p.T513A; 5:176877605-176877605

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2373C>T; p.S791S; 5:176879730-176879730

 skinmalignant_melanomaSubstitution - coding silent

c.1861G>A; p.A621T; 5:176878119-176878119

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1654G>A; p.E552K; 5:176877912-176877912

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1957C>T; p.R653C; 5:176878331-176878331

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.634C>T; p.R212C; 5:176868877-176868877

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1617G>T; p.S539S; 5:176877685-176877685

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.634C>T; p.R212C; 5:176868877-176868877

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.998G>T; p.G333V; 5:176874079-176874079

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.214C>T; p.Q72*; 5:176862767-176862767

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Nonsense

c.552C>A; p.L184L; 5:176868795-176868795

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.558C>T; p.N186N; 5:176868801-176868801

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.558C>T; p.N186N; 5:176868801-176868801

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1789C>G; p.L597V; 5:176878047-176878047

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.2502C>T; p.L834L; 5:176879859-176879859

 skinmalignant_melanomaSubstitution - coding silent

c.2020-2A>G; p.?; 5:176878473-176878473

 endometriumcarcinoma; endometrioid_carcinomaUnknown

c.165C>T; p.I55I; 5:176862718-176862718

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.784C>T; p.R262W; 5:176870432-176870432

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.784C>T; p.R262W; 5:176870432-176870432

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.71-1G>C; p.?; 5:176862623-176862623

 lung; right_upper_lobecarcinoma; adenocarcinomaUnknown

c.201C>T; p.A67A; 5:176862754-176862754

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.738C>T; p.S246S; 5:176870386-176870386

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1800G>A; p.P600P; 5:176878058-176878058

 upper_aerodigestive_tract; mouthcarcinomaSubstitution - coding silent

c.1800G>A; p.P600P; 5:176878058-176878058

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.586C>T; p.P196S; 5:176868829-176868829

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.302C>A; p.T101N; 5:176868139-176868139

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1156G>A; p.D386N; 5:176874344-176874344

 skinmalignant_melanomaSubstitution - Missense

c.1965C>T; p.S655S; 5:176878339-176878339

 skinmalignant_melanomaSubstitution - coding silent

c.688C>T; p.R230C; 5:176868931-176868931

 skinmalignant_melanomaSubstitution - Missense

c.601A>G; p.T201A; 5:176868844-176868844

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.151G>A; p.E51K; 5:176862704-176862704

 skinmalignant_melanomaSubstitution - Missense

c.729C>T; p.G243G; 5:176870377-176870377

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.1718A>G; p.E573G; 5:176877976-176877976

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.554G>A; p.R185Q; 5:176868797-176868797

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.575C>T; p.P192L; 5:176868818-176868818

 skinmalignant_melanomaSubstitution - Missense

c.2298C>T; p.S766S; 5:176879423-176879423

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1894C>T; p.L632L; 5:176878268-176878268

 skinmalignant_melanomaSubstitution - coding silent

c.1089G>A; p.L363L; 5:176874277-176874277

 thyroidother; neoplasmSubstitution - coding silent

c.826G>T; p.E276*; 5:176870474-176870474

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.625C>T; p.R209*; 5:176868868-176868868

 large_intestineNSSubstitution - Nonsense

c.625C>T; p.R209*; 5:176868868-176868868

 skinmalignant_melanomaSubstitution - Nonsense

c.205C>T; p.P69S; 5:176862758-176862758

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.329_330GG>AA; p.R110K; 5:176868166-176868167

 skin; scalpcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1431G>A; p.E477E; 5:176877244-176877244

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.2513C>T; p.S838L; 5:176879870-176879870

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.340G>A; p.E114K; 5:176868177-176868177

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2150G>A; p.G717E; 5:176878605-176878605

 skinmalignant_melanomaSubstitution - Missense

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