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

Basic Information

Gene ID

4087

Name

SMAD2

Synonymous

SMAD family member 2;SMAD2;SMAD family member 2

Definition

MAD homolog 2|SMAD, mothers against DPP homolog 2|Sma- and Mad-related protein 2|mother against DPP homolog 2|mothers against decapentaplegic homolog 2

Position

18q21.1

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 0.35.

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.1393A>C; p.S465R; 18:47841838-47841838

 peritoneum; appendixother; pseudomyxoma_peritoneiSubstitution - Missense

c.354C>T; p.S118S; 18:47869409-47869409

 skinmalignant_melanomaSubstitution - coding silent

c.1283G>A; p.R428K; 18:47841948-47841948

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.734C>G; p.S245C; 18:47851324-47851324

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.491_492insA; p.Y165fs*7; 18:47869271-47869272

 large_intestinecarcinoma; adenocarcinomaInsertion - Frameshift

c.659_660insC; p.P221fs*8; 18:47865129-47865130

 endometriumcarcinoma; endometrioid_carcinomaInsertion - Frameshift

c.477A>G; p.E159E; 18:47869286-47869286

 skinmalignant_melanomaSubstitution - coding silent

c.901G>A; p.G301S; 18:47848571-47848571

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.667C>T; p.P223S; 18:47865122-47865122

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.827C>T; p.S276L; 18:47848645-47848645

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.827C>T; p.S276L; 18:47848645-47848645

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.827C>T; p.S276L; 18:47848645-47848645

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.827C>T; p.S276L; 18:47848645-47848645

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.4T>C; p.S2P; 18:47896753-47896753

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.118T>G; p.W40G; 18:47896639-47896639

 breastcarcinomaSubstitution - Missense

c.245C>G; p.S82C; 18:47870556-47870556

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.733T>C; p.S245P; 18:47851325-47851325

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1297A>G; p.S433G; 18:47841934-47841934

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.1004G>A; p.G335E; 18:47845794-47845794

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.660G>A; p.T220T; 18:47865129-47865129

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.659C>T; p.T220M; 18:47865130-47865130

 central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaSubstitution - Missense

c.659C>T; p.T220M; 18:47865130-47865130

 central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastoma; medullomyoblastomaSubstitution - Missense

c.659C>T; p.T220M; 18:47865130-47865130

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.659C>T; p.T220M; 18:47865130-47865130

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.902G>T; p.G301V; 18:47848570-47848570

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.659C>T; p.T220M; 18:47865130-47865130

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.917C>G; p.S306*; 18:47848555-47848555

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.899A>T; p.D300V; 18:47848573-47848573

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1266G>A; p.W422*; 18:47845354-47845354

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.1348G>A; p.D450N; 18:47841883-47841883

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1091A>C; p.Q364P; 18:47845707-47845707

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1385_1391delGTTGCTC; p.R462fs*>4; 18:47841840-47841846

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.214A>G; p.T72A; 18:47896543-47896543

 central_nervous_system; braingliomaSubstitution - Missense

c.919A>C; p.N307H; 18:47848553-47848553

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.880C>G; p.Q294E; 18:47848592-47848592

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1394G>T; p.S465I; 18:47841837-47841837

 peritoneum; appendixother; pseudomyxoma_peritoneiSubstitution - Missense

c.446G>A; p.C149Y; 18:47869317-47869317

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.365G>T; p.G122V; 18:47869398-47869398

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.424G>T; p.E142*; 18:47869339-47869339

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.424G>T; p.E142*; 18:47869339-47869339

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.224T>C; p.V75A; 18:47896533-47896533

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.890T>A; p.L297H; 18:47848582-47848582

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.890T>A; p.L297H; 18:47848582-47848582

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.890T>A; p.L297H; 18:47848582-47848582

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.890T>A; p.L297H; 18:47848582-47848582

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.448G>A; p.E150K; 18:47869315-47869315

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.972G>A; p.T324T; 18:47848500-47848500

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.731-4T>G; p.?; 18:47851331-47851331

 pancreascarcinoid-endocrine_tumourUnknown

c.1069G>A; p.V357M; 18:47845729-47845729

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1391C>A; p.S464*; 18:47841840-47841840

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1391C>A; p.S464*; 18:47841840-47841840

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Nonsense

c.1391C>A; p.S464*; 18:47841840-47841840

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1391C>A; p.S464*; 18:47841840-47841840

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.1281-8T>G; p.?; 18:47841958-47841958

 livercarcinomaUnknown

c.891_894delCACT; p.T298fs*1; 18:47848578-47848581

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.941G>C; p.G314A; 18:47848531-47848531

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.875C>T; p.A292V; 18:47848597-47848597

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.898G>A; p.D300N; 18:47848574-47848574

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1213G>A; p.V405I; 18:47845407-47845407

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.466A>G; p.K156E; 18:47869297-47869297

 skinmalignant_melanomaSubstitution - Missense

c.688G>T; p.G230*; 18:47865101-47865101

 livercarcinomaSubstitution - Nonsense

c.688G>T; p.G230*; 18:47865101-47865101

 livercarcinomaSubstitution - Nonsense

c.914C>A; p.P305Q; 18:47848558-47848558

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1015T>C; p.Y339H; 18:47845783-47845783

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.558C>T; p.I186I; 18:47868420-47868420

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.544C>A; p.R182R; 18:47868434-47868434

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1201G>T; p.G401C; 18:47845419-47845419

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.161A>C; p.K54T; 18:47896596-47896596

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1076G>A; p.S359N; 18:47845722-47845722

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.583G>C; p.D195H; 18:47868395-47868395

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.477A>C; p.E159D; 18:47869286-47869286

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.639G>C; p.Q213H; 18:47868339-47868339

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.651T>C; p.I217I; 18:47868327-47868327

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1391C>T; p.S464L; 18:47841840-47841840

 peritoneum; appendixother; pseudomyxoma_peritoneiSubstitution - Missense

c.1315G>T; p.E439*; 18:47841916-47841916

 prostatecarcinomaSubstitution - Nonsense

c.102T>C; p.N34N; 18:47896655-47896655

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.908C>G; p.T303R; 18:47848564-47848564

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1219C>G; p.Q407E; 18:47845401-47845401

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.962G>A; p.R321Q; 18:47848510-47848510

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.962G>A; p.R321Q; 18:47848510-47848510

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.962G>A; p.R321Q; 18:47848510-47848510

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.962G>A; p.R321Q; 18:47848510-47848510

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.962G>A; p.R321Q; 18:47848510-47848510

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.962G>A; p.R321Q; 18:47848510-47848510

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.968C>T; p.A323V; 18:47848504-47848504

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1324C>G; p.L442V; 18:47841907-47841907

 breastcarcinomaSubstitution - Missense

c.1007T>G; p.V336G; 18:47845791-47845791

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1388G>A; p.C463Y; 18:47841843-47841843

 peritoneum; appendixother; pseudomyxoma_peritoneiSubstitution - Missense

c.529C>T; p.P177S; 18:47868449-47868449

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.911A>G; p.D304G; 18:47848561-47848561

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.27G>A; p.P9P; 18:47896730-47896730

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.933C>G; p.F311L; 18:47848539-47848539

 breastcarcinomaSubstitution - Missense

c.1281-1G>A; p.?; 18:47841951-47841951

 large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.1400C>T; p.S467L; 18:47841831-47841831

 peritoneum; appendixother; pseudomyxoma_peritoneiSubstitution - Missense

c.1265G>A; p.W422*; 18:47845355-47845355

 livercarcinoma; hepatocellular_carcinomaSubstitution - Nonsense

c.1391C>G; p.S464*; 18:47841840-47841840

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.1391C>G; p.S464*; 18:47841840-47841840

 breastcarcinomaSubstitution - Nonsense

c.1391C>G; p.S464*; 18:47841840-47841840

 breastcarcinomaSubstitution - Nonsense

c.1391C>G; p.S464*; 18:47841840-47841840

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1391C>G; p.S464*; 18:47841840-47841840

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.159G>T; p.K53N; 18:47896598-47896598

 breastcarcinomaSubstitution - Missense

c.1391C>G; p.S464*; 18:47841840-47841840

 stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Nonsense

c.1391C>G; p.S464*; 18:47841840-47841840

 stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1391C>G; p.S464*; 18:47841840-47841840

 large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

c.1391C>G; p.S464*; 18:47841840-47841840

 oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.1391C>G; p.S464*; 18:47841840-47841840

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.1391C>G; p.S464*; 18:47841840-47841840

 stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1101C>T; p.G367G; 18:47845697-47845697

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.682G>T; p.E228*; 18:47865107-47865107

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1001G>A; p.R334K; 18:47845797-47845797

 breastcarcinomaSubstitution - Missense

c.1279C>T; p.R427*; 18:47845341-47845341

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.97C>T; p.Q33*; 18:47896660-47896660

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1124A>G; p.K375R; 18:47845674-47845674

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1003G>A; p.G335R; 18:47845795-47845795

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.958A>C; p.N320H; 18:47848514-47848514

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.397C>T; p.R133C; 18:47869366-47869366

 pancreascarcinomaSubstitution - Missense

c.397C>T; p.R133C; 18:47869366-47869366

 pancreascarcinomaSubstitution - Missense

c.597C>A; p.S199S; 18:47868381-47868381

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.914C>T; p.P305L; 18:47848558-47848558

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1067T>G; p.F356C; 18:47845731-47845731

 breastcarcinomaSubstitution - Missense

c.908C>T; p.T303I; 18:47848564-47848564

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.749C>T; p.S250F; 18:47851309-47851309

 skinmalignant_melanomaSubstitution - Missense

c.359G>A; p.R120Q; 18:47869404-47869404

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.633G>A; p.E211E; 18:47868345-47868345

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.359G>A; p.R120Q; 18:47869404-47869404

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1213G>T; p.V405F; 18:47845407-47845407

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.407A>T; p.D136V; 18:47869356-47869356

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.264T>G; p.S88R; 18:47870537-47870537

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1135+2T>C; p.?; 18:47845661-47845661

 large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.495C>G; p.Y165*; 18:47869268-47869268

 stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.536T>G; p.L179*; 18:47868442-47868442

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.596C>G; p.S199C; 18:47868382-47868382

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1389C>A; p.C463*; 18:47841842-47841842

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.1261G>T; p.G421W; 18:47845359-47845359

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1244G>T; p.R415I; 18:47845376-47845376

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1190C>T; p.S397F; 18:47845430-47845430

 skinmalignant_melanomaSubstitution - Missense

c.1336C>G; p.L446V; 18:47841895-47841895

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1228A>C; p.R410R; 18:47845392-47845392

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1217A>G; p.Y406C; 18:47845403-47845403

 prostatecarcinomaSubstitution - Missense

c.550A>G; p.T184A; 18:47868428-47868428

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.961C>T; p.R321*; 18:47848511-47848511

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.170G>A; p.R57Q; 18:47896587-47896587

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.961C>T; p.R321*; 18:47848511-47848511

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Nonsense

c.969C>T; p.A323A; 18:47848503-47848503

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.961C>T; p.R321*; 18:47848511-47848511

 stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.961C>T; p.R321*; 18:47848511-47848511

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.544C>T; p.R182*; 18:47868434-47868434

 large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

c.544C>T; p.R182*; 18:47868434-47868434

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.544C>T; p.R182*; 18:47868434-47868434

 large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

c.544C>T; p.R182*; 18:47868434-47868434

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.544C>T; p.R182*; 18:47868434-47868434

 pancreascarcinomaSubstitution - Nonsense

c.592C>T; p.H198Y; 18:47868386-47868386

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

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