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

Basic Information

Gene ID

9937

Name

DCLRE1A

Synonymous

DNA cross-link repair 1A;DCLRE1A;DNA cross-link repair 1A

Definition

DNA cross-link repair 1A protein|DNA-crosslink repair gene SNM1|SNM1 homolog A

Position

10q25.1

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 0.08.

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.867A>T; p.P289P; 10:113850238-113850238

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.2705A>G; p.Q902R; 10:113841521-113841521

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.2705A>G; p.Q902R; 10:113841521-113841521

 stomachadenocarcinomaSubstitution - Missense

c.2821G>T; p.G941C; 10:113837203-113837203

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2878C>A; p.R960R; 10:113837146-113837146

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.2439G>T; p.T813T; 10:113844184-113844184

 central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaSubstitution - coding silent

c.797A>G; p.E266G; 10:113850308-113850308

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1907delA; p.K636fs*31; 10:113849198-113849198

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.198C>T; p.P66P; 10:113852985-113852985

 skinmalignant_melanomaSubstitution - coding silent

c.89delA; p.N30fs*3; 10:113853094-113853094

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.2202T>A; p.H734Q; 10:113847259-113847259

 breastcarcinomaSubstitution - Missense

c.461-1G>A; p.?; 10:113850645-113850645

 large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.1945T>C; p.C649R; 10:113849160-113849160

 prostatecarcinomaSubstitution - Missense

c.1469C>T; p.S490L; 10:113849636-113849636

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1576T>G; p.L526V; 10:113849529-113849529

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.2599A>G; p.T867A; 10:113842409-113842409

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1696_1697CC>TT; p.P566F; 10:113849408-113849409

 skinmalignant_melanomaSubstitution - Missense

c.502C>T; p.H168Y; 10:113850603-113850603

 breastcarcinomaSubstitution - Missense

c.1727G>C; p.G576A; 10:113849378-113849378

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1543G>A; p.V515I; 10:113849562-113849562

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1465T>G; p.L489V; 10:113849640-113849640

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.937G>A; p.D313N; 10:113850168-113850168

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2843A>G; p.K948R; 10:113837181-113837181

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.313C>G; p.Q105E; 10:113852870-113852870

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.3091T>G; p.F1031V; 10:113835184-113835184

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.488C>G; p.S163*; 10:113850617-113850617

 urinary_tract; bladdercarcinomaSubstitution - Nonsense

c.1183A>G; p.T395A; 10:113849922-113849922

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.644C>T; p.S215L; 10:113850461-113850461

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2290C>T; p.H764Y; 10:113845773-113845773

 skinmalignant_melanomaSubstitution - Missense

c.2290C>T; p.H764Y; 10:113845773-113845773

 skinmalignant_melanomaSubstitution - Missense

c.378G>T; p.Q126H; 10:113852805-113852805

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1229T>A; p.F410Y; 10:113849876-113849876

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.94C>A; p.L32I; 10:113853089-113853089

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.212G>A; p.G71D; 10:113852971-113852971

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.1476G>A; p.E492E; 10:113849629-113849629

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.212G>A; p.G71D; 10:113852971-113852971

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.1090A>T; p.S364C; 10:113850015-113850015

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1857G>C; p.E619D; 10:113849248-113849248

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.3056G>T; p.G1019V; 10:113835219-113835219

 bone; femurchondrosarcomaSubstitution - Missense

c.2977G>A; p.E993K; 10:113835298-113835298

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_leukaemiaSubstitution - Missense

c.2977G>A; p.E993K; 10:113835298-113835298

 thyroidcarcinomaSubstitution - Missense

c.948G>A; p.P316P; 10:113850157-113850157

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.948G>A; p.P316P; 10:113850157-113850157

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.2474C>A; p.S825Y; 10:113844149-113844149

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2878C>T; p.R960*; 10:113837146-113837146

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.130C>T; p.Q44*; 10:113853053-113853053

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.2545C>T; p.P849S; 10:113842463-113842463

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2228A>C; p.K743T; 10:113847233-113847233

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1553C>T; p.A518V; 10:113849552-113849552

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1741G>C; p.E581Q; 10:113849364-113849364

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1741G>C; p.E581Q; 10:113849364-113849364

 lungcarcinoma; bronchioloalveolar_adenocarcinomaSubstitution - Missense

c.417G>T; p.W139C; 10:113852766-113852766

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2972A>G; p.Y991C; 10:113835303-113835303

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1376C>T; p.P459L; 10:113849729-113849729

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.319delA; p.S107fs*26; 10:113852864-113852864

 skinmalignant_melanomaDeletion - Frameshift

c.3042T>C; p.P1014P; 10:113835233-113835233

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.2364G>A; p.L788L; 10:113845699-113845699

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.3042T>C; p.P1014P; 10:113835233-113835233

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.2597T>G; p.V866G; 10:113842411-113842411

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2081G>A; p.G694E; 10:113849024-113849024

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.19G>A; p.E7K; 10:113853164-113853164

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1651A>G; p.T551A; 10:113849454-113849454

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.2181C>T; p.A727A; 10:113847280-113847280

 skinmalignant_melanomaSubstitution - coding silent

c.134C>A; p.S45*; 10:113853049-113853049

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.1596G>A; p.P532P; 10:113849509-113849509

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.153A>C; p.R51S; 10:113853030-113853030

 livercarcinomaSubstitution - Missense

c.853A>C; p.N285H; 10:113850252-113850252

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1342G>C; p.E448Q; 10:113849763-113849763

 salivary_glandcarcinoma; adenoid_cystic_carcinomaSubstitution - Missense

c.1910_1911delGA; p.R637fs*2; 10:113849194-113849195

 oesophaguscarcinoma; adenocarcinomaDeletion - Frameshift

c.2863C>T; p.Q955*; 10:113837161-113837161

 urinary_tract; bladdercarcinomaSubstitution - Nonsense

c.1365A>C; p.Q455H; 10:113849740-113849740

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2125+2T>G; p.?; 10:113848978-113848978

 skin; head_neckcarcinoma; squamous_cell_carcinomaUnknown

c.656A>G; p.Q219R; 10:113850449-113850449

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.3095G>C; p.R1032T; 10:113835180-113835180

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.682C>T; p.P228S; 10:113850423-113850423

 skinmalignant_melanomaSubstitution - Missense

c.1791G>A; p.S597S; 10:113849314-113849314

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.2656G>T; p.V886F; 10:113842352-113842352

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1156C>T; p.Q386*; 10:113849949-113849949

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Nonsense

c.1156C>T; p.Q386*; 10:113849949-113849949

 urinary_tract; bladdercarcinomaSubstitution - Nonsense

c.919G>T; p.E307*; 10:113850186-113850186

 urinary_tract; bladdercarcinomaSubstitution - Nonsense

c.610G>T; p.G204C; 10:113850495-113850495

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1342G>A; p.E448K; 10:113849763-113849763

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1032_1033insT; p.K345fs*1; 10:113850072-113850073

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.199C>T; p.L67F; 10:113852984-113852984

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1169A>T; p.Q390L; 10:113849936-113849936

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1402C>T; p.P468S; 10:113849703-113849703

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.868G>A; p.E290K; 10:113850237-113850237

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2290C>A; p.H764N; 10:113845773-113845773

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.399A>G; p.I133M; 10:113852784-113852784

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.2291A>G; p.H764R; 10:113845772-113845772

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2291A>G; p.H764R; 10:113845772-113845772

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.18C>T; p.S6S; 10:113853165-113853165

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.2625C>T; p.V875V; 10:113842383-113842383

 cervixcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1103G>A; p.R368Q; 10:113850002-113850002

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1142T>G; p.L381R; 10:113849963-113849963

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1016A>G; p.D339G; 10:113850089-113850089

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.2849G>C; p.G950A; 10:113837175-113837175

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1192T>C; p.Y398H; 10:113849913-113849913

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2743G>C; p.E915Q; 10:113841483-113841483

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1196A>T; p.D399V; 10:113849909-113849909

 skin; upper_armmalignant_melanomaSubstitution - Missense

c.1562T>C; p.L521S; 10:113849543-113849543

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1313C>T; p.A438V; 10:113849792-113849792

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2623G>T; p.V875F; 10:113842385-113842385

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.902C>G; p.S301C; 10:113850203-113850203

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1716G>T; p.E572D; 10:113849389-113849389

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1345G>A; p.E449K; 10:113849760-113849760

 salivary_glandcarcinoma; adenoid_cystic_carcinomaSubstitution - Missense

c.2137A>C; p.T713P; 10:113847324-113847324

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.2137A>C; p.T713P; 10:113847324-113847324

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.2137A>C; p.T713P; 10:113847324-113847324

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.2137A>C; p.T713P; 10:113847324-113847324

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.2271T>A; p.N757K; 10:113845792-113845792

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1403C>A; p.P468H; 10:113849702-113849702

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.2114A>C; p.K705T; 10:113848991-113848991

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.2152C>T; p.Q718*; 10:113847309-113847309

 urinary_tract; bladdercarcinomaSubstitution - Nonsense

c.2152C>T; p.Q718*; 10:113847309-113847309

 skinmalignant_melanomaSubstitution - Nonsense

c.2053A>C; p.K685Q; 10:113849052-113849052

 breastcarcinoma; ductal_carcinomaSubstitution - Missense

c.1372C>T; p.L458F; 10:113849733-113849733

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1996T>G; p.L666V; 10:113849109-113849109

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.449G>A; p.R150H; 10:113852734-113852734

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1932G>A; p.L644L; 10:113849173-113849173

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.173A>T; p.K58I; 10:113853010-113853010

 prostateadenomaSubstitution - Missense

c.2557G>A; p.E853K; 10:113842451-113842451

 cervixcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2767G>A; p.D923N; 10:113841459-113841459

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.963A>G; p.E321E; 10:113850142-113850142

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.2193A>G; p.T731T; 10:113847268-113847268

 breastcarcinomaSubstitution - coding silent

c.631G>T; p.E211*; 10:113850474-113850474

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.963A>G; p.E321E; 10:113850142-113850142

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - coding silent

c.1166C>A; p.S389Y; 10:113849939-113849939

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1003G>A; p.E335K; 10:113850102-113850102

 oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1465T>C; p.L489L; 10:113849640-113849640

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2387G>A; p.G796D; 10:113844236-113844236

 skinmalignant_melanomaSubstitution - Missense

c.2281A>T; p.N761Y; 10:113845782-113845782

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1936G>A; p.E646K; 10:113849169-113849169

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; chronic_myeloid_leukaemiaSubstitution - Missense

c.1040G>T; p.R347L; 10:113850065-113850065

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.975delT; p.F325fs*28; 10:113850130-113850130

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.2274G>C; p.L758F; 10:113845789-113845789

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.356A>G; p.D119G; 10:113852827-113852827

 pancreascarcinomaSubstitution - Missense

c.356A>G; p.D119G; 10:113852827-113852827

 pancreascarcinomaSubstitution - Missense

c.356A>G; p.D119G; 10:113852827-113852827

 pancreascarcinomaSubstitution - Missense

c.544G>T; p.A182S; 10:113850561-113850561

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1730A>G; p.E577G; 10:113849375-113849375

 breastcarcinomaSubstitution - Missense

c.669G>T; p.S223S; 10:113850436-113850436

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.409C>T; p.P137S; 10:113852774-113852774

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.409C>T; p.P137S; 10:113852774-113852774

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

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