| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 657 |
Name | BMPR1A |
Synonymous | 10q23del|ACVRLK3|ALK3|CD292|SKR5;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 |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for BMPR1A | ||
PCGP somatic mutation [Top] | ||
There is no record for BMPR1A | ||
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.817C>T; p.R273*; |
large_intestine | carcinoma; adenocarcinoma |
c.1480C>T; p.R494*; |
large_intestine | carcinoma; adenocarcinoma |
c.230+1G>T; p.?; |
lung | carcinoma; squamous_cell_carcinoma |
c.1069G>A; p.A357T; |
breast | carcinoma; HER-positive_carcinoma |
c.1340G>C; p.G447A; |
lung | carcinoma; small_cell_carcinoma |
c.1175A>G; p.N392S; |
lung | carcinoma; small_cell_carcinoma |
c.1559C>T; p.T520M; 10:88673416-88673416 |
lung | carcinoma; adenocarcinoma |
c.1301G>A; p.G434D; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.306A>C; p.K102N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.997A>C; p.K333Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1242C>T; p.D414D; |
pancreas | carcinoma |
c.501G>T; p.M167I; |
lung | carcinoma; adenocarcinoma |
c.460C>G; p.L154V; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.910C>A; p.Q304K; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.662G>A; p.G221E; |
oesophagus; lower_third | carcinoma; adenocarcinoma |
c.231-1G>A; p.?; |
oesophagus | carcinoma; adenocarcinoma |
c.1358A>T; p.Y453F; |
liver | carcinoma; hepatocellular_carcinoma |
c.1242C>T; p.D414D; |
pancreas | carcinoma; ductal_carcinoma |
c.1580C>T; p.S527F; |
lung | carcinoma; adenocarcinoma |
c.285A>G; p.T95T; |
lung | carcinoma; adenocarcinoma |
c.289G>A; p.A97T; |
skin; extremity | malignant_melanoma |
c.1457G>A; p.R486Q; 10:88673227-88673227 |
stomach | carcinoma; adenocarcinoma |
c.1460G>A; p.W487*; 10:88673230-88673230 |
large_intestine | carcinoma; adenocarcinoma |
c.173T>A; p.F58Y; 10:88639904-88639904 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.354A>G; p.L118L; |
lung | carcinoma; small_cell_carcinoma |
c.253A>C; p.I85L; |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.990C>T; p.A330A; 10:88669030-88669030 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.990C>T; p.A330A; 10:88669030-88669030 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.253A>C; p.I85L; |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.1327C>T; p.R443C; |
ovary | carcinoma; serous_carcinoma |
c.173T>A; p.F58Y; 10:88639904-88639904 |
lung | carcinoma; squamous_cell_carcinoma |
c.587A>T; p.D196V; |
lung | carcinoma; squamous_cell_carcinoma |
c.314G>T; p.G105V; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.310G>A; p.E104K; |
ovary | carcinoma; serous_carcinoma |
c.736G>C; p.G246R; |
lung | carcinoma; squamous_cell_carcinoma |
c.393C>G; p.N131K; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1456C>T; p.R486W; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1457G>T; p.R486L; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.230delT; p.I77fs*10; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.734A>G; p.Y245C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.123_124insA; p.S44fs*27; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1379T>C; p.M460T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1480C>T; p.R494*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1561C>T; p.L521F; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.536A>G; p.Y179C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.608G>C; p.G203A; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1081C>T; p.R361*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.622G>T; p.D208Y; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1457G>T; p.R486L; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1457G>T; p.R486L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1456C>T; p.R486W; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1560G>A; p.T520T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1457G>T; p.R486L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1558A>G; p.T520A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.531-1G>T; p.?; |
endometrium | carcinoma; endometrioid_carcinoma |
c.267T>A; p.D89E; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1457G>T; p.R486L; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1021G>C; p.G341R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.988G>T; p.A330S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1457G>T; p.R486L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.533A>T; p.H178L; |
skin | malignant_melanoma |
c.1457G>A; p.R486Q; 10:88673227-88673227 |
stomach | adenocarcinoma |