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

Basic Information

Gene ID

650

Name

BMP2

Synonymous

bone morphogenetic protein 2;BMP2;bone morphogenetic protein 2

Definition

BMP-2A|bone morphogenetic protein 2A

Position

20p12

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 0.11.

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.1075G>C; p.A359P; 20:6778973-6778973

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.798T>A; p.T266T; 20:6778696-6778696

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.393A>T; p.R131S; 20:6778291-6778291

breastcarcinomaSubstitution - Missense

c.106G>A; p.A36T; 20:6770232-6770232

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.372G>A; p.T124T; 20:6778270-6778270

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.251G>A; p.R84H; 20:6770377-6770377

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.509G>A; p.R170Q; 20:6778407-6778407

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.509G>A; p.R170Q; 20:6778407-6778407

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.509G>A; p.R170Q; 20:6778407-6778407

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.509G>A; p.R170Q; 20:6778407-6778407

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1036C>T; p.Q346*; 20:6778934-6778934

breastcarcinomaSubstitution - Nonsense

c.226C>A; p.P76T; 20:6770352-6770352

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.907G>A; p.V303M; 20:6778805-6778805

pancreascarcinomaSubstitution - Missense

c.878A>C; p.K293T; 20:6778776-6778776

skinmalignant_melanomaSubstitution - Missense

c.417C>T; p.I139I; 20:6778315-6778315

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.110C>T; p.S37L; 20:6770236-6770236

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.383delC; p.T128fs*9; 20:6778281-6778281

bone; pelvischondrosarcomaDeletion - Frameshift

c.829C>A; p.H277N; 20:6778727-6778727

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.101C>T; p.A34V; 20:6770227-6770227

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.678C>T; p.F226F; 20:6778576-6778576

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.114G>A; p.S38S; 20:6770240-6770240

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.678C>T; p.F226F; 20:6778576-6778576

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.102G>T; p.A34A; 20:6770228-6770228

lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.430T>G; p.F144V; 20:6778328-6778328

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.663C>T; p.H221H; 20:6778561-6778561

oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.430T>G; p.F144V; 20:6778328-6778328

kidneycarcinoma; renal_cell_carcinomaSubstitution - Missense

c.186C>T; p.G62G; 20:6770312-6770312

skinmalignant_melanomaSubstitution - coding silent

c.867G>A; p.R289R; 20:6778765-6778765

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1052C>G; p.S351C; 20:6778950-6778950

oesophaguscarcinomaSubstitution - Missense

c.497G>A; p.S166N; 20:6778395-6778395

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.871C>T; p.R291C; 20:6778769-6778769

breastcarcinomaSubstitution - Missense

c.994C>T; p.P332S; 20:6778892-6778892

skinmalignant_melanomaSubstitution - Missense

c.906C>T; p.Y302Y; 20:6778804-6778804

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.72C>T; p.L24L; 20:6770198-6770198

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.222G>A; p.V74V; 20:6770348-6770348

skinmalignant_melanomaSubstitution - coding silent

c.953C>G; p.P318R; 20:6778851-6778851

pancreascarcinomaSubstitution - Missense

c.953C>G; p.P318R; 20:6778851-6778851

pancreascarcinomaSubstitution - Missense

c.966C>T; p.A322A; 20:6778864-6778864

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.501C>G; p.F167L; 20:6778399-6778399

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.980G>A; p.G327E; 20:6778878-6778878

breastcarcinoma; HER-positive_carcinomaSubstitution - Missense

c.463G>T; p.E155*; 20:6778361-6778361

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.979G>A; p.G327R; 20:6778877-6778877

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.376G>A; p.G126R; 20:6778274-6778274

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1110G>A; p.S370S; 20:6779008-6779008

skinmalignant_melanomaSubstitution - coding silent

c.356A>T; p.E119V; 20:6778254-6778254

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.703G>A; p.E235K; 20:6778601-6778601

skinmalignant_melanomaSubstitution - Missense

c.1077A>G; p.A359A; 20:6778975-6778975

lungcarcinoma; small_cell_carcinomaSubstitution - coding silent

c.684G>T; p.V228V; 20:6778582-6778582

lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.673G>A; p.G225R; 20:6778571-6778571

skinmalignant_melanomaSubstitution - Missense

c.772T>C; p.S258P; 20:6778670-6778670

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.754C>T; p.Q252*; 20:6778652-6778652

skinmalignant_melanomaSubstitution - Nonsense

c.124T>G; p.S42A; 20:6770250-6770250

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.434T>C; p.I145T; 20:6778332-6778332

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.778A>G; p.I260V; 20:6778676-6778676

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.633C>T; p.P211P; 20:6778531-6778531

skinmalignant_melanomaSubstitution - coding silent

c.1038G>C; p.Q346H; 20:6778936-6778936

skinmalignant_melanomaSubstitution - Missense

c.292C>T; p.R98W; 20:6770418-6770418

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.891G>C; p.K297N; 20:6778789-6778789

breastcarcinomaSubstitution - Missense

c.623A>G; p.D208G; 20:6778521-6778521

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.679G>A; p.V227M; 20:6778577-6778577

skinmalignant_melanomaSubstitution - Missense

c.416_417insC; p.T141fs*25; 20:6778314-6778315

large_intestine; caecumcarcinoma; adenocarcinomaInsertion - Frameshift

c.25C>T; p.L9L; 20:6770151-6770151

biliary_tract; gallbladdercarcinoma; adenocarcinomaSubstitution - coding silent

c.25C>T; p.L9L; 20:6770151-6770151

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.949C>T; p.P317S; 20:6778847-6778847

skinmalignant_melanomaSubstitution - Missense

c.949C>T; p.P317S; 20:6778847-6778847

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.866G>A; p.R289Q; 20:6778764-6778764

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1050C>G; p.N350K; 20:6778948-6778948

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.922G>A; p.V308M; 20:6778820-6778820

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.558C>T; p.F186F; 20:6778456-6778456

skinmalignant_melanomaSubstitution - coding silent

c.392G>T; p.R131I; 20:6778290-6778290

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.465A>G; p.E155E; 20:6778363-6778363

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.570A>T; p.R190S; 20:6778468-6778468

thyroidother; neoplasmSubstitution - Missense

c.756A>G; p.Q252Q; 20:6778654-6778654

ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.261A>G; p.S87S; 20:6770387-6770387

breastcarcinomaSubstitution - coding silent

c.141C>G; p.D47E; 20:6770267-6770267

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.261A>G; p.S87S; 20:6770387-6770387

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.261A>G; p.S87S; 20:6770387-6770387

breastcarcinomaSubstitution - coding silent

c.389G>A; p.R130Q; 20:6778287-6778287

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.261A>G; p.S87S; 20:6770387-6770387

breastcarcinomaSubstitution - coding silent

c.422C>T; p.T141M; 20:6778320-6778320

urinary_tract; bladdercarcinomaSubstitution - Missense

c.1132G>A; p.E378K; 20:6779030-6779030

skinmalignant_melanomaSubstitution - Missense

c.1040C>T; p.T347M; 20:6778938-6778938

pancreascarcinoma; ductal_carcinomaSubstitution - Missense

c.187C>G; p.L63V; 20:6770313-6770313

peritoneum; appendixother; pseudomyxoma_peritoneiSubstitution - Missense

c.93G>A; p.R31R; 20:6770219-6770219

skinmalignant_melanomaSubstitution - coding silent

c.93G>A; p.R31R; 20:6770219-6770219

skinmalignant_melanomaSubstitution - coding silent

c.691G>T; p.A231S; 20:6778589-6778589

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1149G>T; p.K383N; 20:6779047-6779047

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.433A>C; p.I145L; 20:6778331-6778331

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.664G>A; p.A222T; 20:6778562-6778562

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1137G>A; p.K379K; 20:6779035-6779035

skinmalignant_melanomaSubstitution - coding silent


')