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

Basic Information

Gene ID

652

Name

BMP4

Synonymous

bone morphogenetic protein 4;BMP4;bone morphogenetic protein 4

Definition

BMP-2B|BMP-4|bone morphogenetic protein 2B

Position

14q22-q23

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 0.05.

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.1188T>G; p.N396K; 14:53950071-53950071

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.429C>T; p.N143N; 14:53950830-53950830

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.806G>A; p.R269Q; 14:53950453-53950453

 stomachadenocarcinomaSubstitution - Missense

c.209G>A; p.R70H; 14:53952014-53952014

 livercarcinomaSubstitution - Missense

c.209G>A; p.R70H; 14:53952014-53952014

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.209G>A; p.R70H; 14:53952014-53952014

 livercarcinomaSubstitution - Missense

c.875G>A; p.R292H; 14:53950384-53950384

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.528C>T; p.H176H; 14:53950731-53950731

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.854C>T; p.T285I; 14:53950405-53950405

 pancreascarcinomaSubstitution - Missense

c.1064C>T; p.A355V; 14:53950195-53950195

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.898C>T; p.R300W; 14:53950361-53950361

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.848C>T; p.A283V; 14:53950411-53950411

 skinmalignant_melanomaSubstitution - Missense

c.115C>T; p.Q39*; 14:53952108-53952108

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.750G>T; p.Q250H; 14:53950509-53950509

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.992G>A; p.G331D; 14:53950267-53950267

 central_nervous_system; braingliomaSubstitution - Missense

c.1159G>A; p.D387N; 14:53950100-53950100

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.455T>C; p.V152A; 14:53950804-53950804

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1011C>A; p.C337*; 14:53950248-53950248

 breastcarcinomaSubstitution - Nonsense

c.164G>A; p.R55Q; 14:53952059-53952059

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1210G>C; p.G404R; 14:53950049-53950049

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.775C>T; p.P259S; 14:53950484-53950484

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.202C>T; p.R68C; 14:53952021-53952021

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.450C>T; p.N150N; 14:53950809-53950809

 stomachadenocarcinomaSubstitution - coding silent

c.450C>T; p.N150N; 14:53950809-53950809

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.8C>A; p.P3H; 14:53952215-53952215

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.838C>T; p.R280W; 14:53950421-53950421

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.840G>T; p.R280R; 14:53950419-53950419

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.592C>T; p.R198*; 14:53950667-53950667

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Nonsense

c.810_811CC>TT; p.L271F; 14:53950448-53950449

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1040A>G; p.D347G; 14:53950219-53950219

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.251G>T; p.R84L; 14:53951972-53951972

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.65G>A; p.S22N; 14:53952158-53952158

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.585C>T; p.L195L; 14:53950674-53950674

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1178T>C; p.V393A; 14:53950081-53950081

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.767G>A; p.R256Q; 14:53950492-53950492

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.767G>A; p.R256Q; 14:53950492-53950492

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.340G>T; p.A114S; 14:53951883-53951883

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.340G>T; p.A114S; 14:53951883-53951883

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.340G>T; p.A114S; 14:53951883-53951883

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.340G>T; p.A114S; 14:53951883-53951883

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.340G>T; p.A114S; 14:53951883-53951883

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.340G>T; p.A114S; 14:53951883-53951883

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.340G>T; p.A114S; 14:53951883-53951883

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.340G>T; p.A114S; 14:53951883-53951883

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.340G>T; p.A114S; 14:53951883-53951883

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.340G>T; p.A114S; 14:53951883-53951883

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.340G>T; p.A114S; 14:53951883-53951883

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.135C>A; p.R45R; 14:53952088-53952088

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.857G>A; p.R286Q; 14:53950402-53950402

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.857G>A; p.R286Q; 14:53950402-53950402

 prostatecarcinomaSubstitution - Missense

c.1211G>T; p.G404V; 14:53950048-53950048

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.102_103insA; p.V35fs*18; 14:53952120-53952121

 oesophagus; lower_thirdcarcinoma; adenocarcinomaInsertion - Frameshift

c.451G>A; p.E151K; 14:53950808-53950808

 central_nervous_system; parietal_lobeglioma; ependymomaSubstitution - Missense

c.1016G>T; p.G339V; 14:53950243-53950243

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.177G>A; p.A59A; 14:53952046-53952046

 pancreascarcinomaSubstitution - coding silent

c.221G>A; p.S74N; 14:53952002-53952002

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.106G>A; p.A36T; 14:53952117-53952117

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.929G>A; p.R310H; 14:53950330-53950330

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.21G>C; p.M7I; 14:53952202-53952202

 livercarcinomaSubstitution - Missense

c.21G>C; p.M7I; 14:53952202-53952202

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.415C>T; p.R139C; 14:53950844-53950844

 skinmalignant_melanomaSubstitution - Missense

c.1222C>T; p.R408C; 14:53950037-53950037

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1179A>G; p.V393V; 14:53950080-53950080

 lungcarcinoma; small_cell_carcinomaSubstitution - coding silent

c.593G>A; p.R198Q; 14:53950666-53950666

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.915T>C; p.N305N; 14:53950344-53950344

 pancreascarcinomaSubstitution - coding silent

c.203G>C; p.R68P; 14:53952020-53952020

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.203G>C; p.R68P; 14:53952020-53952020

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.676C>T; p.R226W; 14:53950583-53950583

 central_nervous_system; braingliomaSubstitution - Missense

c.699G>A; p.G233G; 14:53950560-53950560

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.416G>A; p.R139H; 14:53950843-53950843

 endometriumcarcinoma; serous_carcinomaSubstitution - Missense

c.218C>T; p.P73L; 14:53952005-53952005

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.218C>T; p.P73L; 14:53952005-53952005

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.754G>A; p.V252I; 14:53950505-53950505

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.404A>T; p.N135I; 14:53950855-53950855

 breastcarcinomaSubstitution - Missense

c.463T>G; p.S155A; 14:53950796-53950796

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.837C>T; p.G279G; 14:53950422-53950422

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1110A>T; p.K370N; 14:53950149-53950149

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.955G>A; p.D319N; 14:53950304-53950304

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.881C>A; p.P294H; 14:53950378-53950378

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.63G>A; p.A21A; 14:53952160-53952160

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.27G>T; p.M9I; 14:53952196-53952196

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.63G>A; p.A21A; 14:53952160-53952160

 skinmalignant_melanomaSubstitution - coding silent

c.522C>T; p.G174G; 14:53950737-53950737

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.76T>C; p.L26L; 14:53952147-53952147

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.1223G>A; p.R408H; 14:53950036-53950036

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.421C>A; p.L141I; 14:53950838-53950838

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.927G>A; p.R309R; 14:53950332-53950332

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - coding silent

c.631C>T; p.R211W; 14:53950628-53950628

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.344A>T; p.N115I; 14:53951879-53951879

 prostatecarcinomaSubstitution - Missense

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