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

Basic Information

Gene ID

9429

Name

ABCG2

Synonymous

ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group);ABCG2;ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)

Definition

ABC transporter|ATP-binding cassette sub-family G member 2|ATP-binding cassette transporter G2|breast cancer resistance protein|mitoxantrone resistance-associated protein|multi drug resistance efflux transport ATP-binding cassette sub-family G (WHITE) mem

Position

4q22

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 0.12.

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.703G>A; p.G235R; 4:88118247-88118247

 skinmalignant_melanomaSubstitution - Missense

c.459G>A; p.T153T; 4:88131133-88131133

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.79G>T; p.D27Y; 4:88139917-88139917

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1356G>T; p.K452N; 4:88101241-88101241

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1177C>A; p.Q393K; 4:88113320-88113320

 central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastoma; medullomyoblastomaSubstitution - Missense

c.1177C>A; p.Q393K; 4:88113320-88113320

 central_nervous_system; cerebellumprimitive_neuroectodermal_tumour-medulloblastoma; SHH_subtypeSubstitution - Missense

c.532-5T>C; p.?; 4:88121797-88121797

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaUnknown

c.1443G>A; p.M481I; 4:88099373-88099373

 breastcarcinoma; HER-positive_carcinomaSubstitution - Missense

c.1155C>G; p.F385L; 4:88113342-88113342

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.891C>T; p.I297I; 4:88115009-88115009

 skinmalignant_melanomaSubstitution - coding silent

c.603C>A; p.I201I; 4:88121721-88121721

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.843T>C; p.G281G; 4:88115057-88115057

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1913T>C; p.V638A; 4:88092289-88092289

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.335C>T; p.P112L; 4:88131846-88131846

 oesophaguscarcinomaSubstitution - Missense

c.1016C>T; p.S339F; 4:88113481-88113481

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.30C>T; p.I10I; 4:88139966-88139966

 skinmalignant_melanomaSubstitution - coding silent

c.1333G>A; p.V445M; 4:88101264-88101264

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.785G>A; p.G262E; 4:88118165-88118165

 skinmalignant_melanomaSubstitution - Missense

c.785G>A; p.G262E; 4:88118165-88118165

 skinmalignant_melanomaSubstitution - Missense

c.1195-1G>A; p.?; 4:88107267-88107267

 skin; extremitymalignant_melanomaUnknown

c.338G>A; p.R113Q; 4:88131843-88131843

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1368-2A>T; p.?; 4:88099450-88099450

 lung; right_lower_lobecarcinoma; adenocarcinomaUnknown

c.1302G>A; p.T434T; 4:88101295-88101295

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1320C>G; p.S440R; 4:88101277-88101277

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1613C>G; p.T538R; 4:88097487-88097487

 livercarcinomaSubstitution - Missense

c.1613C>G; p.T538R; 4:88097487-88097487

 livercarcinomaSubstitution - Missense

c.478C>T; p.R160W; 4:88131114-88131114

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.863A>C; p.N288T; 4:88115037-88115037

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1775G>A; p.C592Y; 4:88094622-88094622

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.736C>T; p.R246*; 4:88118214-88118214

 skin; anklemalignant_melanoma; acral_lentiginousSubstitution - Nonsense

c.480G>A; p.R160R; 4:88131112-88131112

 skinmalignant_melanomaSubstitution - coding silent

c.167G>A; p.R56Q; 4:88139829-88139829

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.934G>T; p.D312Y; 4:88114966-88114966

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.175G>A; p.V59I; 4:88139821-88139821

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.568G>T; p.E190*; 4:88121756-88121756

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.568G>T; p.E190*; 4:88121756-88121756

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.418T>G; p.L140V; 4:88131174-88131174

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.482T>G; p.I161S; 4:88131110-88131110

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.546T>C; p.F182F; 4:88121778-88121778

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1429G>A; p.D477N; 4:88099387-88099387

 skin; scalpmalignant_melanomaSubstitution - Missense

c.579G>C; p.R193S; 4:88121745-88121745

 ovaryother; neoplasmSubstitution - Missense

c.491T>C; p.V164A; 4:88131101-88131101

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1080G>A; p.K360K; 4:88113417-88113417

 skinmalignant_melanomaSubstitution - coding silent

c.1808G>A; p.C603Y; 4:88094589-88094589

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.829T>G; p.F277V; 4:88118121-88118121

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1194+7A>G; p.?; 4:88113296-88113296

 pancreascarcinoid-endocrine_tumourUnknown

c.393G>A; p.M131I; 4:88131199-88131199

 skinmalignant_melanomaSubstitution - Missense

c.1093A>G; p.K365E; 4:88113404-88113404

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1944G>T; p.L648F; 4:88092258-88092258

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.421C>A; p.Q141K; 4:88131171-88131171

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.421C>A; p.Q141K; 4:88131171-88131171

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.421C>A; p.Q141K; 4:88131171-88131171

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.421C>A; p.Q141K; 4:88131171-88131171

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.1098G>A; p.E366E; 4:88113399-88113399

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.421C>A; p.Q141K; 4:88131171-88131171

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.34G>A; p.V12M; 4:88139962-88139962

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.531G>A; p.K177K; 4:88131061-88131061

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1957A>G; p.K653E; 4:88092245-88092245

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.288G>A; p.R96R; 4:88131893-88131893

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1527G>T; p.M509I; 4:88097573-88097573

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.568G>A; p.E190K; 4:88121756-88121756

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.706C>T; p.R236*; 4:88118244-88118244

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1234A>T; p.I412F; 4:88107227-88107227

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.194C>T; p.S65L; 4:88139802-88139802

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1948T>C; p.F650L; 4:88092254-88092254

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1890C>A; p.H630Q; 4:88092312-88092312

 lung; middle_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1716C>T; p.S572S; 4:88095541-88095541

 livercarcinomaSubstitution - coding silent

c.805C>T; p.P269S; 4:88118145-88118145

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.1534A>C; p.T512P; 4:88097566-88097566

 skinmalignant_melanomaSubstitution - Missense

c.649G>T; p.D217Y; 4:88121675-88121675

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.157C>T; p.L53L; 4:88139839-88139839

 breastcarcinomaSubstitution - coding silent

c.928G>A; p.E310K; 4:88114972-88114972

 oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1253A>T; p.N418I; 4:88107208-88107208

 skinmalignant_melanomaSubstitution - Missense

c.230C>T; p.A77V; 4:88132609-88132609

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1059C>T; p.S353S; 4:88113438-88113438

 breastcarcinomaSubstitution - coding silent

c.1059C>T; p.S353S; 4:88113438-88113438

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1079_1081delAGA; p.K360delK; 4:88113416-88113418

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - In frame

c.1852G>A; p.G618S; 4:88092350-88092350

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.61C>T; p.P21S; 4:88139935-88139935

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1857C>T; p.I619I; 4:88092345-88092345

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1326T>G; p.V442V; 4:88101271-88101271

 skinmalignant_melanomaSubstitution - coding silent

c.431C>A; p.A144E; 4:88131161-88131161

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.195G>A; p.S65S; 4:88139801-88139801

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.463C>T; p.H155Y; 4:88131129-88131129

 skin; extremitymalignant_melanomaSubstitution - Missense

c.412G>T; p.E138*; 4:88131180-88131180

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.473delA; p.N158fs*11; 4:88131119-88131119

 livercarcinomaDeletion - Frameshift

c.569A>G; p.E190G; 4:88121755-88121755

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.569A>G; p.E190G; 4:88121755-88121755

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1209C>G; p.V403V; 4:88107252-88107252

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.569A>G; p.E190G; 4:88121755-88121755

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.782C>T; p.S261L; 4:88118168-88118168

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1480T>A; p.Y494N; 4:88099336-88099336

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1280C>A; p.A427D; 4:88101317-88101317

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1831G>A; p.E611K; 4:88092371-88092371

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.882C>A; p.F294L; 4:88115018-88115018

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1336delG; p.E446fs*5; 4:88101261-88101261

 endometriumcarcinoma; endometrioid_carcinomaDeletion - Frameshift

c.855G>A; p.E285E; 4:88115045-88115045

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1843G>A; p.V615I; 4:88092359-88092359

 upper_aerodigestive_tract; larynxcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1396G>A; p.V466M; 4:88099420-88099420

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1415G>A; p.G472E; 4:88099401-88099401

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1253delA; p.N418fs*16; 4:88107208-88107208

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.565G>A; p.G189R; 4:88121759-88121759

 skinmalignant_melanomaSubstitution - Missense

c.587T>G; p.I196R; 4:88121737-88121737

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.1861C>G; p.L621V; 4:88092341-88092341

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.145A>T; p.K49*; 4:88139851-88139851

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.1060G>T; p.G354W; 4:88113437-88113437

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.458C>T; p.T153M; 4:88131134-88131134

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.458C>T; p.T153M; 4:88131134-88131134

 large_intestine; coloncarcinomaSubstitution - Missense

c.458C>T; p.T153M; 4:88131134-88131134

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.740A>G; p.Y247C; 4:88118210-88118210

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.853G>A; p.E285K; 4:88115047-88115047

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1604C>A; p.S535Y; 4:88097496-88097496

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.19G>A; p.E7K; 4:88139977-88139977

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.19G>A; p.E7K; 4:88139977-88139977

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.271G>C; p.D91H; 4:88131910-88131910

 breastcarcinoma; ductal_carcinomaSubstitution - Missense

c.439C>T; p.R147W; 4:88131153-88131153

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1210G>A; p.V404I; 4:88107251-88107251

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.439C>T; p.R147W; 4:88131153-88131153

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.157C>G; p.L53V; 4:88139839-88139839

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.514A>C; p.K172Q; 4:88131078-88131078

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.5C>T; p.S2F; 4:88139991-88139991

 skin; neckmalignant_melanomaSubstitution - Missense

c.1959delA; p.K653fs*>3; 4:88092243-88092243

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.993A>T; p.K331N; 4:88113504-88113504

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.527C>A; p.S176Y; 4:88131065-88131065

 prostatecarcinomaSubstitution - Missense

c.18C>T; p.V6V; 4:88139978-88139978

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.322A>G; p.I108V; 4:88131859-88131859

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.210C>G; p.I70M; 4:88132629-88132629

 oesophaguscarcinomaSubstitution - Missense

c.1753G>A; p.E585K; 4:88094644-88094644

 skinmalignant_melanomaSubstitution - Missense

c.1000G>A; p.E334K; 4:88113497-88113497

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.228C>T; p.N76N; 4:88132611-88132611

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.263C>T; p.S88L; 4:88132576-88132576

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.263C>T; p.S88L; 4:88132576-88132576

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1755A>T; p.E585D; 4:88094642-88094642

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.21A>C; p.E7D; 4:88139975-88139975

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1616T>G; p.L539R; 4:88097484-88097484

 pancreascarcinomaSubstitution - Missense

c.426C>T; p.F142F; 4:88131166-88131166

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.134G>A; p.R45Q; 4:88139862-88139862

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1014C>T; p.N338N; 4:88113483-88113483

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1175C>T; p.P392L; 4:88113322-88113322

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1594A>T; p.S532C; 4:88097506-88097506

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1559C>T; p.A520V; 4:88097541-88097541

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.336G>A; p.P112P; 4:88131845-88131845

 oesophaguscarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1521C>T; p.F507F; 4:88097579-88097579

 prostatecarcinomaSubstitution - coding silent

c.930A>G; p.E310E; 4:88114970-88114970

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.775T>C; p.L259L; 4:88118175-88118175

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - coding silent

c.812A>T; p.Q271L; 4:88118138-88118138

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.131A>T; p.Y44F; 4:88139865-88139865

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1020C>A; p.S340S; 4:88113477-88113477

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.465T>A; p.H155Q; 4:88131127-88131127

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1493-2delA; p.?; 4:88097609-88097609

 breastcarcinomaUnknown

c.1056T>A; p.L352L; 4:88113441-88113441

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.301G>T; p.G101*; 4:88131880-88131880

 breastcarcinoma; ductal_carcinomaSubstitution - Nonsense

c.1296C>A; p.F432L; 4:88101301-88101301

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.590G>A; p.G197E; 4:88121734-88121734

 skinmalignant_melanomaSubstitution - Missense

c.1659T>C; p.G553G; 4:88095598-88095598

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.64G>A; p.A22T; 4:88139932-88139932

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.166C>T; p.R56*; 4:88139830-88139830

 breastcarcinoma; ductal_carcinomaSubstitution - Nonsense

c.126C>G; p.I42M; 4:88139870-88139870

 oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1213C>A; p.L405M; 4:88107248-88107248

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.327T>C; p.N109N; 4:88131854-88131854

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

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