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

Basic Information

Gene ID

657

Name

BMPR1A

Synonymous

bone morphogenetic protein receptor, type IA;BMPR1A;bone morphogenetic protein receptor, type IA

Definition

ALK-3|BMP type-1A receptor|BMPR-1A|activin A receptor, type II-like kinase 3|activin receptor-like kinase 3|bone morphogenetic protein receptor type-1A|serine/threonine-protein kinase receptor R5

Position

10q22.3

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 0.16.

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.1457G>T; p.R486L; 10:86923490-86923490

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1457G>T; p.R486L; 10:86923490-86923490

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1457G>T; p.R486L; 10:86923490-86923490

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.171delT; p.L59fs*1; 10:86890165-86890165

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.1457G>T; p.R486L; 10:86923490-86923490

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1457G>T; p.R486L; 10:86923490-86923490

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1457G>T; p.R486L; 10:86923490-86923490

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.910C>A; p.Q304K; 10:86919213-86919213

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.289G>A; p.A97T; 10:86892185-86892185

 skin; extremitymalignant_melanomaSubstitution - Missense

c.531-1G>T; p.?; 10:86912239-86912239

 endometriumcarcinoma; endometrioid_carcinomaUnknown

c.988G>T; p.A330S; 10:86919291-86919291

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.231-1G>A; p.?; 10:86892126-86892126

 oesophaguscarcinoma; adenocarcinomaUnknown

c.253A>C; p.I85L; 10:86892149-86892149

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.608G>C; p.G203A; 10:86912317-86912317

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.253A>C; p.I85L; 10:86892149-86892149

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.379A>G; p.T127A; 10:86899839-86899839

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1560G>A; p.T520T; 10:86923680-86923680

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1379T>C; p.M460T; 10:86923412-86923412

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1456C>T; p.R486W; 10:86923489-86923489

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1439G>A; p.R480Q; 10:86923472-86923472

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.501G>T; p.M167I; 10:86900097-86900097

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1456C>T; p.R486W; 10:86923489-86923489

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.416C>T; p.P139L; 10:86899876-86899876

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.306A>C; p.K102N; 10:86892202-86892202

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1342+1G>A; p.?; 10:86921696-86921696

 kidneycarcinoma; papillary_renal_cell_carcinomaUnknown

c.1327C>T; p.R443C; 10:86921680-86921680

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.860A>G; p.N287S; 10:86917318-86917318

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.622G>T; p.D208Y; 10:86912331-86912331

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.4C>A; p.P2T; 10:86876022-86876022

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1460G>A; p.W487*; 10:86923493-86923493

 large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

c.1460G>A; p.W487*; 10:86923493-86923493

 large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

c.760C>T; p.R254C; 10:86917218-86917218

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1348G>A; p.V450M; 10:86923381-86923381

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.485T>A; p.V162D; 10:86900081-86900081

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1010C>T; p.S337L; 10:86919313-86919313

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1010C>T; p.S337L; 10:86919313-86919313

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.1081C>T; p.R361*; 10:86919384-86919384

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.1166G>T; p.S389I; 10:86919469-86919469

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.736G>C; p.G246R; 10:86917194-86917194

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.319G>A; p.D107N; 10:86892215-86892215

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.920T>G; p.L307W; 10:86919223-86919223

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1457G>A; p.R486Q; 10:86923490-86923490

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1457G>A; p.R486Q; 10:86923490-86923490

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1457G>A; p.R486Q; 10:86923490-86923490

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.1457G>A; p.R486Q; 10:86923490-86923490

 stomachadenocarcinomaSubstitution - Missense

c.230delT; p.I77fs*10; 10:86890224-86890224

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.536A>G; p.Y179C; 10:86912245-86912245

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.354A>G; p.L118L; 10:86899814-86899814

 lungcarcinoma; small_cell_carcinomaSubstitution - coding silent

c.310G>A; p.E104K; 10:86892206-86892206

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.460C>G; p.L154V; 10:86900056-86900056

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.533A>T; p.H178L; 10:86912242-86912242

 skinmalignant_melanomaSubstitution - Missense

c.1480C>T; p.R494*; 10:86923600-86923600

 large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

c.1480C>T; p.R494*; 10:86923600-86923600

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.1301G>A; p.G434D; 10:86921654-86921654

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.990C>T; p.A330A; 10:86919293-86919293

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.1340G>C; p.G447A; 10:86921693-86921693

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.1580C>T; p.S527F; 10:86923700-86923700

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.11T>A; p.L4Q; 10:86876029-86876029

 breastcarcinomaSubstitution - Missense

c.1062A>G; p.G354G; 10:86919365-86919365

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.587A>T; p.D196V; 10:86912296-86912296

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1175A>G; p.N392S; 10:86921528-86921528

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.1078C>G; p.H360D; 10:86919381-86919381

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.682C>T; p.R228*; 10:86917140-86917140

 pancreascarcinomaSubstitution - Nonsense

c.1068C>T; p.P356P; 10:86919371-86919371

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.173T>A; p.F58Y; 10:86890167-86890167

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.173T>A; p.F58Y; 10:86890167-86890167

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.173T>A; p.F58Y; 10:86890167-86890167

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1068C>T; p.P356P; 10:86919371-86919371

 central_nervous_system; braingliomaSubstitution - coding silent

c.329G>A; p.C110Y; 10:86892225-86892225

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.997A>C; p.K333Q; 10:86919300-86919300

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.212C>T; p.A71V; 10:86890206-86890206

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.963G>A; p.L321L; 10:86919266-86919266

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - coding silent

c.267T>A; p.D89E; 10:86892163-86892163

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.963G>A; p.L321L; 10:86919266-86919266

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.1559C>T; p.T520M; 10:86923679-86923679

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.569A>G; p.N190S; 10:86912278-86912278

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.571C>T; p.R191C; 10:86912280-86912280

 skinmalignant_melanomaSubstitution - Missense

c.94G>A; p.G32S; 10:86890088-86890088

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.94G>A; p.G32S; 10:86890088-86890088

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.314G>T; p.G105V; 10:86892210-86892210

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1358A>T; p.Y453F; 10:86923391-86923391

 livercarcinomaSubstitution - Missense

c.1358A>T; p.Y453F; 10:86923391-86923391

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.285A>G; p.T95T; 10:86892181-86892181

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.734A>G; p.Y245C; 10:86917192-86917192

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.67+2T>C; p.?; 10:86876087-86876087

 large_intestine; rectumcarcinoma; adenocarcinomaUnknown

c.713G>A; p.R238Q; 10:86917171-86917171

 bone; femurEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.393C>G; p.N131K; 10:86899853-86899853

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.293C>T; p.S98L; 10:86892189-86892189

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1021G>C; p.G341R; 10:86919324-86919324

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.410C>T; p.T137I; 10:86899870-86899870

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.662G>A; p.G221E; 10:86912371-86912371

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.1069G>A; p.A357T; 10:86919372-86919372

 breastcarcinoma; HER-positive_carcinomaSubstitution - Missense

c.1069G>A; p.A357T; 10:86919372-86919372

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.817C>T; p.R273*; 10:86917275-86917275

 large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

c.1242C>T; p.D414D; 10:86921595-86921595

 pancreascarcinomaSubstitution - coding silent

c.1242C>T; p.D414D; 10:86921595-86921595

 pancreascarcinomaSubstitution - coding silent

c.817C>T; p.R273*; 10:86917275-86917275

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1242C>T; p.D414D; 10:86921595-86921595

 pancreascarcinomaSubstitution - coding silent

c.1242C>T; p.D414D; 10:86921595-86921595

 pancreascarcinomaSubstitution - coding silent

c.1242C>T; p.D414D; 10:86921595-86921595

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1242C>T; p.D414D; 10:86921595-86921595

 pancreascarcinoma; ductal_carcinomaSubstitution - coding silent

c.1242C>T; p.D414D; 10:86921595-86921595

 pancreascarcinomaSubstitution - coding silent

c.1558A>G; p.T520A; 10:86923678-86923678

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1561C>T; p.L521F; 10:86923681-86923681

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1582C>T; p.Q528*; 10:86923702-86923702

 skinmalignant_melanomaSubstitution - Nonsense

c.230+1G>T; p.?; 10:86890225-86890225

 lungcarcinoma; squamous_cell_carcinomaUnknown

c.123_124insA; p.S44fs*27; 10:86890117-86890118

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

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