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

Basic Information

Gene ID

1739

Name

DLG1

Synonymous

discs, large homolog 1 (Drosophila);DLG1;discs, large homolog 1 (Drosophila)

Definition

disks large homolog 1|presynaptic protein SAP97|synapse-associated protein 97

Position

3q29

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 0.15.

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.1018C>T; p.Q340*; 3:197136643-197136643

 skinmalignant_melanomaSubstitution - Nonsense

c.2251G>T; p.D751Y; 3:197065756-197065756

 breastcarcinomaSubstitution - Missense

c.1358C>T; p.A453V; 3:197119437-197119437

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.785delG; p.G262fs*18; 3:197140167-197140167

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.2618G>A; p.R873K; 3:197051633-197051633

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1844T>G; p.V615G; 3:197085673-197085673

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2317C>T; p.R773*; 3:197065431-197065431

 stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.2762C>T; p.P921L; 3:197044642-197044642

 prostateadenomaSubstitution - Missense

c.2278A>G; p.K760E; 3:197065729-197065729

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1834A>G; p.I612V; 3:197085683-197085683

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1008T>G; p.G336G; 3:197136653-197136653

 breastcarcinomaSubstitution - coding silent

c.2647G>C; p.E883Q; 3:197051604-197051604

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.205C>T; p.R69C; 3:197282792-197282792

 skinmalignant_melanomaSubstitution - Missense

c.636+1G>A; p.?; 3:197149742-197149742

 kidneycarcinoma; clear_cell_renal_cell_carcinomaUnknown

c.636+1G>A; p.?; 3:197149742-197149742

 large_intestine; caecumcarcinoma; adenocarcinomaUnknown

c.1726C>T; p.L576F; 3:197090946-197090946

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1979T>C; p.F660S; 3:197081076-197081076

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.715G>A; p.A239T; 3:197140237-197140237

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.2678T>A; p.I893N; 3:197044726-197044726

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.761delT; p.F254fs*26; 3:197140191-197140191

 kidneycarcinoma; clear_cell_renal_cell_carcinomaDeletion - Frameshift

c.252T>G; p.I84M; 3:197282745-197282745

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1391C>G; p.P464R; 3:197116078-197116078

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1954C>T; p.R652*; 3:197081101-197081101

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.340G>A; p.D114N; 3:197194568-197194568

 central_nervous_system; thalamusglioma; oligoastrocytoma_Grade_IISubstitution - Missense

c.2761C>T; p.P921S; 3:197044643-197044643

 skin; facecarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2131A>G; p.S711G; 3:197069234-197069234

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2163C>T; p.Y721Y; 3:197066738-197066738

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.2299C>T; p.H767Y; 3:197065708-197065708

 skinmalignant_melanomaSubstitution - Missense

c.35T>C; p.L12S; 3:197296462-197296462

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1531C>A; p.R511S; 3:197115938-197115938

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.493G>T; p.A165S; 3:197161729-197161729

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.397G>C; p.E133Q; 3:197194511-197194511

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1640C>T; p.P547L; 3:197104908-197104908

 skinmalignant_melanomaSubstitution - Missense

c.550G>A; p.E184K; 3:197161672-197161672

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.2195A>T; p.E732V; 3:197066706-197066706

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.670G>T; p.E224*; 3:197142735-197142735

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.1705A>G; p.I569V; 3:197090967-197090967

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1390C>T; p.P464S; 3:197116079-197116079

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1705A>G; p.I569V; 3:197090967-197090967

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.106C>T; p.R36W; 3:197296391-197296391

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1316A>T; p.Q439L; 3:197119479-197119479

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.106C>T; p.R36W; 3:197296391-197296391

 oesophaguscarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1567G>T; p.A523S; 3:197104981-197104981

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1476C>T; p.S492S; 3:197115993-197115993

 skinmalignant_melanomaSubstitution - coding silent

c.1476C>T; p.S492S; 3:197115993-197115993

 skinmalignant_melanomaSubstitution - coding silent

c.1730G>A; p.R577Q; 3:197090942-197090942

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.2268A>G; p.E756E; 3:197065739-197065739

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.731A>C; p.N244T; 3:197140221-197140221

 breastcarcinomaSubstitution - Missense

c.812G>A; p.R271Q; 3:197140140-197140140

 pancreascarcinoma; acinar_carcinomaSubstitution - Missense

c.1682G>A; p.R561Q; 3:197090990-197090990

 skinmalignant_melanomaSubstitution - Missense

c.2717T>G; p.V906G; 3:197044687-197044687

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.375C>T; p.I125I; 3:197194533-197194533

 skinmalignant_melanomaSubstitution - coding silent

c.518T>C; p.V173A; 3:197161704-197161704

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1200G>T; p.L400F; 3:197130591-197130591

 stomachadenocarcinomaSubstitution - Missense

c.107G>A; p.R36Q; 3:197296390-197296390

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.301C>A; p.L101I; 3:197282696-197282696

 breastcarcinomaSubstitution - Missense

c.1214C>T; p.P405L; 3:197130577-197130577

 skinmalignant_melanomaSubstitution - Missense

c.2239G>C; p.D747H; 3:197065768-197065768

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.718G>T; p.G240*; 3:197140234-197140234

 stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.777C>G; p.I259M; 3:197140175-197140175

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.1959_1960insGAGCC; p.R654fs*4; 3:197081095-197081096

 oesophaguscarcinoma; adenocarcinomaInsertion - Frameshift

c.2770G>C; p.E924Q; 3:197044634-197044634

 breastcarcinomaSubstitution - Missense

c.1444G>T; p.G482*; 3:197116025-197116025

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Nonsense

c.1105G>T; p.D369Y; 3:197136556-197136556

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2675-10A>G; p.?; 3:197044739-197044739

 livercarcinomaUnknown

c.529C>T; p.P177S; 3:197161693-197161693

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.334G>A; p.D112N; 3:197194574-197194574

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.778A>G; p.T260A; 3:197140174-197140174

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1270_1272delTCT; p.S424delS; 3:197119523-197119525

 breastcarcinomaDeletion - In frame

c.1720G>T; p.G574C; 3:197090952-197090952

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1517_1518delTC; p.L506fs*13; 3:197115951-197115952

 skinmalignant_melanomaDeletion - Frameshift

c.1836C>T; p.I612I; 3:197085681-197085681

 central_nervous_system; braingliomaSubstitution - coding silent

c.1893A>T; p.P631P; 3:197085624-197085624

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.255C>T; p.S85S; 3:197282742-197282742

 skinmalignant_melanomaSubstitution - coding silent

c.995G>A; p.S332N; 3:197136666-197136666

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1848T>G; p.I616M; 3:197085669-197085669

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2220C>G; p.I740M; 3:197065787-197065787

 oesophaguscarcinomaSubstitution - Missense

c.1434C>G; p.F478L; 3:197116035-197116035

 breastcarcinomaSubstitution - Missense

c.533T>C; p.V178A; 3:197161689-197161689

 breastcarcinomaSubstitution - Missense

c.166T>A; p.Y56N; 3:197282831-197282831

 skinmalignant_melanomaSubstitution - Missense

c.2261T>G; p.I754S; 3:197065746-197065746

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2585A>G; p.E862G; 3:197051666-197051666

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.752C>A; p.S251*; 3:197140200-197140200

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.361A>G; p.I121V; 3:197194547-197194547

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1386G>C; p.R462S; 3:197116083-197116083

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.2516G>C; p.R839T; 3:197059955-197059955

 breastcarcinomaSubstitution - Missense

c.1985C>A; p.S662Y; 3:197081070-197081070

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2303C>A; p.T768K; 3:197065445-197065445

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2447A>G; p.Q816R; 3:197065301-197065301

 pancreascarcinomaSubstitution - Missense

c.2447A>G; p.Q816R; 3:197065301-197065301

 pancreascarcinomaSubstitution - Missense

c.2447A>G; p.Q816R; 3:197065301-197065301

 pancreascarcinomaSubstitution - Missense

c.2078G>T; p.S693I; 3:197076612-197076612

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; mantle_cell_lymphomaSubstitution - Missense

c.2596C>T; p.R866C; 3:197051655-197051655

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.853C>A; p.R285S; 3:197138351-197138351

 prostatecarcinomaSubstitution - Missense

c.440A>C; p.N147T; 3:197194468-197194468

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.2385C>T; p.I795I; 3:197065363-197065363

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2004+7A>C; p.?; 3:197081044-197081044

 livercarcinomaUnknown

c.2004+7A>C; p.?; 3:197081044-197081044

 livercarcinomaUnknown

c.1619C>A; p.T540K; 3:197104929-197104929

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.573C>G; p.T191T; 3:197161649-197161649

 thyroidother; neoplasmSubstitution - coding silent

c.1754A>G; p.Y585C; 3:197090918-197090918

 livercarcinomaSubstitution - Missense

c.16C>G; p.Q6E; 3:197297189-197297189

 breastcarcinomaSubstitution - Missense

c.2158G>T; p.E720*; 3:197066743-197066743

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Nonsense

c.249G>T; p.E83D; 3:197282748-197282748

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.2264C>T; p.S755L; 3:197065743-197065743

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.2264C>T; p.S755L; 3:197065743-197065743

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.2674+10G>A; p.?; 3:197051567-197051567

 biliary_tract; gallbladdercarcinoma; adenocarcinomaUnknown

c.2198-1G>C; p.?; 3:197065810-197065810

 breastcarcinomaUnknown

c.2567C>T; p.S856F; 3:197059904-197059904

 skinmalignant_melanomaSubstitution - Missense

c.2370G>A; p.Q790Q; 3:197065378-197065378

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1294A>G; p.S432G; 3:197119501-197119501

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2711A>G; p.N904S; 3:197044693-197044693

 skinmalignant_melanomaSubstitution - Missense

c.139C>T; p.Q47*; 3:197296358-197296358

 breastcarcinomaSubstitution - Nonsense

c.1207G>A; p.A403T; 3:197130584-197130584

 thyroidcarcinomaSubstitution - Missense

c.2382T>A; p.D794E; 3:197065366-197065366

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1273C>T; p.Q425*; 3:197119522-197119522

 breastcarcinomaSubstitution - Nonsense

c.929G>T; p.R310M; 3:197138275-197138275

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.220G>A; p.E74K; 3:197282777-197282777

 livercarcinomaSubstitution - Missense

c.220G>A; p.E74K; 3:197282777-197282777

 livercarcinomaSubstitution - Missense

c.994A>G; p.S332G; 3:197136667-197136667

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1992G>A; p.T664T; 3:197081063-197081063

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2778A>G; p.L926L; 3:197044626-197044626

 livercarcinomaSubstitution - coding silent

c.2778A>G; p.L926L; 3:197044626-197044626

 livercarcinoma; hepatocellular_carcinomaSubstitution - coding silent

c.2423A>G; p.N808S; 3:197065325-197065325

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.55C>G; p.R19G; 3:197296442-197296442

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.1186G>T; p.D396Y; 3:197130605-197130605

 breastcarcinomaSubstitution - Missense

c.1692G>A; p.M564I; 3:197090980-197090980

 breastcarcinomaSubstitution - Missense

c.1532G>A; p.R511H; 3:197115937-197115937

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2589G>C; p.M863I; 3:197051662-197051662

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.2474G>A; p.G825D; 3:197059997-197059997

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1040G>A; p.S347N; 3:197136621-197136621

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.209C>T; p.S70L; 3:197282788-197282788

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.726G>T; p.T242T; 3:197140226-197140226

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.2264C>A; p.S755*; 3:197065743-197065743

 skinmalignant_melanomaSubstitution - Nonsense

c.1493G>A; p.G498E; 3:197115976-197115976

 skinmalignant_melanomaSubstitution - Missense

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