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

Basic Information

Gene ID

5909

Name

RAP1GAP

Synonymous

RAP1 GTPase activating protein;RAP1GAP;RAP1 GTPase activating protein

Definition

rap1 GTPase-activating protein 1

Position

1p36.1-p35

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.876C>T; p.I292I; 1:21610243-21610243

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.876C>T; p.I292I; 1:21610243-21610243

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1051G>T; p.D351Y; 1:21609595-21609595

livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.459T>G; p.V153V; 1:21613643-21613643

skinmalignant_melanomaSubstitution - coding silent

c.1498G>A; p.A500T; 1:21602844-21602844

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1458G>A; p.T486T; 1:21602884-21602884

skinmalignant_melanomaSubstitution - coding silent

c.1458G>A; p.T486T; 1:21602884-21602884

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1498G>A; p.A500T; 1:21602844-21602844

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.450C>T; p.F150F; 1:21613652-21613652

skinmalignant_melanomaSubstitution - coding silent

c.450C>T; p.F150F; 1:21613652-21613652

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.865G>A; p.G289R; 1:21610254-21610254

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1683G>A; p.A561A; 1:21599587-21599587

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1722C>A; p.S574R; 1:21599548-21599548

lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.864C>T; p.I288I; 1:21610255-21610255

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1072-4C>A; p.?; 1:21608940-21608940

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaUnknown

c.1605G>A; p.E535E; 1:21601731-21601731

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.900G>T; p.E300D; 1:21610219-21610219

pancreascarcinomaSubstitution - Missense

c.1256_1268del13; p.E419fs*25; 1:21608241-21608253

lungcarcinoma; adenocarcinomaDeletion - Frameshift

c.1817C>G; p.S606C; 1:21598462-21598462

thyroidother; neoplasmSubstitution - Missense

c.1595C>A; p.P532H; 1:21601741-21601741

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1703C>T; p.S568F; 1:21599567-21599567

skinmalignant_melanomaSubstitution - Missense

c.924G>A; p.M308I; 1:21610195-21610195

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1553C>T; p.A518V; 1:21601783-21601783

thyroidcarcinomaSubstitution - Missense

c.1487G>C; p.R496P; 1:21602855-21602855

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.87A>C; p.P29P; 1:21617952-21617952

ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.911T>C; p.F304S; 1:21610208-21610208

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.799C>T; p.H267Y; 1:21611496-21611496

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.138C>T; p.I46I; 1:21617459-21617459

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1162C>T; p.R388W; 1:21608347-21608347

urinary_tract; bladdercarcinomaSubstitution - Missense

c.1576G>A; p.G526R; 1:21601760-21601760

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.344C>T; p.S115L; 1:21614037-21614037

skinmalignant_melanomaSubstitution - Missense

c.1272C>G; p.G424G; 1:21608237-21608237

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1605G>T; p.E535D; 1:21601731-21601731

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.845T>C; p.L282S; 1:21610274-21610274

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.732C>T; p.D244D; 1:21611563-21611563

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.660C>T; p.F220F; 1:21611769-21611769

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.660C>T; p.F220F; 1:21611769-21611769

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.231C>A; p.T77T; 1:21617366-21617366

ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.660C>T; p.F220F; 1:21611769-21611769

livercarcinomaSubstitution - coding silent

c.382C>T; p.R128W; 1:21613999-21613999

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1862G>A; p.S621N; 1:21598417-21598417

pancreascarcinomaSubstitution - Missense

c.1614C>T; p.S538S; 1:21601722-21601722

skinmalignant_melanomaSubstitution - coding silent

c.354C>A; p.Y118*; 1:21614027-21614027

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.912C>T; p.F304F; 1:21610207-21610207

breastcarcinomaSubstitution - coding silent

c.727C>A; p.L243M; 1:21611568-21611568

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.618C>A; p.S206S; 1:21611811-21611811

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1965G>A; p.E655E; 1:21597979-21597979

breastcarcinomaSubstitution - coding silent

c.474+1G>T; p.?; 1:21613627-21613627

urinary_tract; bladdercarcinomaUnknown

c.1391C>T; p.A464V; 1:21606103-21606103

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.792C>T; p.I264I; 1:21611503-21611503

skin; trunkmalignant_melanoma; nodularSubstitution - coding silent

c.1391C>T; p.A464V; 1:21606103-21606103

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.320C>T; p.A107V; 1:21614061-21614061

skinmalignant_melanomaSubstitution - Missense

c.1486C>T; p.R496C; 1:21602856-21602856

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.717_718CC>TT; p.R240*; 1:21611577-21611578

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.1221C>A; p.S407S; 1:21608288-21608288

lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.364G>A; p.G122R; 1:21614017-21614017

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1091T>G; p.F364C; 1:21608917-21608917

livercarcinomaSubstitution - Missense

c.1091T>G; p.F364C; 1:21608917-21608917

livercarcinomaSubstitution - Missense

c.1091T>G; p.F364C; 1:21608917-21608917

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1901C>A; p.P634Q; 1:21598043-21598043

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.52_53CC>TT; p.P18L; 1:21619038-21619039

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1179C>T; p.L393L; 1:21608330-21608330

skinmalignant_melanomaSubstitution - coding silent

c.888C>G; p.V296V; 1:21610231-21610231

kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - coding silent

c.1187C>T; p.T396M; 1:21608322-21608322

central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaSubstitution - Missense

c.1759G>A; p.G587R; 1:21599511-21599511

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.834C>T; p.D278D; 1:21611461-21611461

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1476G>A; p.P492P; 1:21602866-21602866

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.631T>G; p.F211V; 1:21611798-21611798

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1676C>T; p.A559V; 1:21599594-21599594

lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.1202T>C; p.L401P; 1:21608307-21608307

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1072G>T; p.G358W; 1:21608936-21608936

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1271G>A; p.G424D; 1:21608238-21608238

biliary_tract; gallbladdercarcinoma; adenocarcinomaSubstitution - Missense

c.1827T>C; p.Y609Y; 1:21598452-21598452

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1072-4C>T; p.?; 1:21608940-21608940

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaUnknown

c.146C>T; p.P49L; 1:21617451-21617451

skinmalignant_melanomaSubstitution - Missense

c.71A>T; p.E24V; 1:21617968-21617968

skinmalignant_melanomaSubstitution - Missense

c.1281C>A; p.F427L; 1:21608228-21608228

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1281C>A; p.F427L; 1:21608228-21608228

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.184G>A; p.E62K; 1:21617413-21617413

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.678T>A; p.F226L; 1:21611751-21611751

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.507C>A; p.F169L; 1:21613197-21613197

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1625C>T; p.S542F; 1:21601711-21601711

skinmalignant_melanomaSubstitution - Missense

c.1732G>A; p.V578M; 1:21599538-21599538

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1846A>G; p.S616G; 1:21598433-21598433

oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.1667C>G; p.A556G; 1:21599603-21599603

prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.139C>T; p.L47L; 1:21617458-21617458

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.97G>A; p.V33M; 1:21617942-21617942

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1731C>T; p.S577S; 1:21599539-21599539

breastcarcinomaSubstitution - coding silent

c.724G>T; p.G242C; 1:21611571-21611571

livercarcinomaSubstitution - Missense

c.201C>T; p.P67P; 1:21617396-21617396

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1469C>T; p.S490L; 1:21602873-21602873

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.939C>T; p.F313F; 1:21610180-21610180

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.1469C>T; p.S490L; 1:21602873-21602873

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.469G>A; p.A157T; 1:21613633-21613633

livercarcinomaSubstitution - Missense

c.1826A>G; p.Y609C; 1:21598453-21598453

breastcarcinoma; ductal_carcinomaSubstitution - Missense

c.327C>T; p.L109L; 1:21614054-21614054

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.769T>C; p.C257R; 1:21611526-21611526

breastcarcinomaSubstitution - Missense

c.769T>C; p.C257R; 1:21611526-21611526

breastcarcinoma; ductal_carcinomaSubstitution - Missense

c.1626C>T; p.S542S; 1:21601710-21601710

skinmalignant_melanomaSubstitution - coding silent

c.1563G>A; p.K521K; 1:21601773-21601773

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.270C>T; p.Y90Y; 1:21617327-21617327

thyroidother; neoplasmSubstitution - coding silent

c.1362C>T; p.T454T; 1:21606132-21606132

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1045delC; p.L349fs*18; 1:21609601-21609601

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1562A>G; p.K521R; 1:21601774-21601774

skinmalignant_melanomaSubstitution - Missense

c.818delC; p.P273fs*36; 1:21611477-21611477

lungcarcinoma; adenocarcinomaDeletion - Frameshift

c.1764G>A; p.E588E; 1:21599506-21599506

skinmalignant_melanomaSubstitution - coding silent

c.980C>T; p.P327L; 1:21610139-21610139

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1575C>T; p.S525S; 1:21601761-21601761

breastcarcinomaSubstitution - coding silent

c.348C>G; p.L116L; 1:21614033-21614033

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1050G>A; p.P350P; 1:21609596-21609596

pancreascarcinomaSubstitution - coding silent

c.1050G>A; p.P350P; 1:21609596-21609596

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1457C>T; p.T486M; 1:21602885-21602885

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1895C>A; p.P632H; 1:21598049-21598049

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1064T>C; p.F355S; 1:21609582-21609582

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.300C>T; p.F100F; 1:21614081-21614081

skinmalignant_melanomaSubstitution - coding silent

c.1578G>A; p.G526G; 1:21601758-21601758

oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - coding silent

c.1637C>T; p.P546L; 1:21601699-21601699

skinmalignant_melanomaSubstitution - Missense

c.122_123insG; p.P42fs*16; 1:21617474-21617475

prostatecarcinoma; adenocarcinomaInsertion - Frameshift


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