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

Basic Information

Gene ID

27302

Name

BMP10

Synonymous

bone morphogenetic protein 10;BMP10;bone morphogenetic protein 10

Definition

-

Position

2p13.3

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 0.08.

The copy number variations for various cancers

Top

There is no record for BMP10

COSMIC somatic mutation [Top]

Mutation (CDS; AA; Chr)

Site

Histology

Mutation Type

c.344C>T; p.S115F; 2:68866562-68866562

skinmalignant_melanomaSubstitution - Missense

c.344C>T; p.S115F; 2:68866562-68866562

skin; neckmalignant_melanomaSubstitution - Missense

c.522A>T; p.K174N; 2:68866384-68866384

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.272A>C; p.K91T; 2:68871087-68871087

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.998A>G; p.K333R; 2:68865908-68865908

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.371G>A; p.R124Q; 2:68866535-68866535

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.371G>A; p.R124Q; 2:68866535-68866535

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.300C>T; p.P100P; 2:68871059-68871059

skinmalignant_melanomaSubstitution - coding silent

c.1120G>A; p.A374T; 2:68865786-68865786

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.441A>G; p.L147L; 2:68866465-68866465

boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.953C>A; p.A318D; 2:68865953-68865953

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.824C>A; p.S275Y; 2:68866082-68866082

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.486C>A; p.D162E; 2:68866420-68866420

kidneyother; neoplasmSubstitution - Missense

c.1134C>G; p.L378L; 2:68865772-68865772

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1183G>A; p.E395K; 2:68865723-68865723

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.563C>A; p.S188Y; 2:68866343-68866343

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.990C>T; p.I330I; 2:68865916-68865916

pancreascarcinomaSubstitution - coding silent

c.1027G>A; p.A343T; 2:68865879-68865879

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.966C>T; p.Y322Y; 2:68865940-68865940

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.91C>T; p.P31S; 2:68871268-68871268

skinmalignant_melanomaSubstitution - Missense

c.665T>C; p.V222A; 2:68866241-68866241

breastcarcinoma; ductal_carcinomaSubstitution - Missense

c.151T>C; p.F51L; 2:68871208-68871208

stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.1218C>T; p.V406V; 2:68865688-68865688

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.538G>T; p.E180*; 2:68866368-68866368

soft_tissue; striated_musclerhabdomyosarcoma; embryonalSubstitution - Nonsense

c.227C>G; p.S76*; 2:68871132-68871132

lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.738G>T; p.Q246H; 2:68866168-68866168

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1108G>A; p.A370T; 2:68865798-68865798

breastcarcinomaSubstitution - Missense

c.1017C>A; p.S339S; 2:68865889-68865889

lungcarcinoma; small_cell_carcinomaSubstitution - coding silent

c.765G>A; p.V255V; 2:68866141-68866141

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.798G>A; p.R266R; 2:68866108-68866108

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.798G>A; p.R266R; 2:68866108-68866108

skinmalignant_melanomaSubstitution - coding silent

c.245C>A; p.P82Q; 2:68871114-68871114

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1173C>A; p.P391P; 2:68865733-68865733

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1186C>T; p.P396S; 2:68865720-68865720

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.521A>G; p.K174R; 2:68866385-68866385

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.521A>G; p.K174R; 2:68866385-68866385

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.521A>G; p.K174R; 2:68866385-68866385

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.521A>G; p.K174R; 2:68866385-68866385

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.521A>G; p.K174R; 2:68866385-68866385

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.410A>G; p.H137R; 2:68866496-68866496

breastcarcinoma; basal_(triple-negative)_carcinomaSubstitution - Missense

c.497C>T; p.T166I; 2:68866409-68866409

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.370C>T; p.R124*; 2:68866536-68866536

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.503T>G; p.F168C; 2:68866403-68866403

skinmalignant_melanomaSubstitution - Missense

c.763G>A; p.V255M; 2:68866143-68866143

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.951C>T; p.N317N; 2:68865955-68865955

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.550C>A; p.L184M; 2:68866356-68866356

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.430G>A; p.E144K; 2:68866476-68866476

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.878G>A; p.G293E; 2:68866028-68866028

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.580A>G; p.T194A; 2:68866326-68866326

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1011G>A; p.W337*; 2:68865895-68865895

lungcarcinoma; small_cell_carcinomaSubstitution - Nonsense

c.1078delC; p.L360fs*35; 2:68865828-68865828

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1188C>T; p.P396P; 2:68865718-68865718

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.684C>T; p.H228H; 2:68866222-68866222

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.684C>T; p.H228H; 2:68866222-68866222

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.814G>A; p.E272K; 2:68866092-68866092

skinmalignant_melanomaSubstitution - Missense

c.129C>A; p.F43L; 2:68871230-68871230

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1034C>A; p.P345H; 2:68865872-68865872

large_intestine; colonNSSubstitution - Missense

c.885G>A; p.G295G; 2:68866021-68866021

skinmalignant_melanomaSubstitution - coding silent

c.1262G>A; p.C421Y; 2:68865644-68865644

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.647C>T; p.S216F; 2:68866259-68866259

skinmalignant_melanomaSubstitution - Missense

c.805G>A; p.E269K; 2:68866101-68866101

skinmalignant_melanomaSubstitution - Missense

c.378C>T; p.Y126Y; 2:68866528-68866528

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.667C>T; p.H223Y; 2:68866239-68866239

skinmalignant_melanomaSubstitution - Missense

c.477T>A; p.D159E; 2:68866429-68866429

oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.802G>A; p.E268K; 2:68866104-68866104

skinmalignant_melanomaSubstitution - Missense

c.475G>A; p.D159N; 2:68866431-68866431

skinmalignant_melanomaSubstitution - Missense

c.755T>C; p.L252S; 2:68866151-68866151

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1041C>T; p.Y347Y; 2:68865865-68865865

prostatecarcinoma; adenocarcinomaSubstitution - coding silent

c.862G>A; p.D288N; 2:68866044-68866044

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.235G>A; p.V79M; 2:68871124-68871124

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.312C>T; p.I104I; 2:68871047-68871047

skinmalignant_melanomaSubstitution - coding silent

c.542G>T; p.R181I; 2:68866364-68866364

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.867C>G; p.S289R; 2:68866039-68866039

kidneyother; neoplasmSubstitution - Missense

c.571A>G; p.I191V; 2:68866335-68866335

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.712C>T; p.R238W; 2:68866194-68866194

oesophaguscarcinomaSubstitution - Missense

c.488G>A; p.R163Q; 2:68866418-68866418

skinmalignant_melanomaSubstitution - Missense

c.1030_1031CC>TT; p.P344L; 2:68865875-68865876

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.488G>A; p.R163Q; 2:68866418-68866418

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_leukaemiaSubstitution - Missense

c.673G>T; p.E225*; 2:68866233-68866233

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.237G>T; p.V79V; 2:68871122-68871122

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.29C>T; p.A10V; 2:68871330-68871330

skinmalignant_melanomaSubstitution - Missense

c.552G>T; p.L184L; 2:68866354-68866354

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.63C>T; p.G21G; 2:68871296-68871296

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.89C>T; p.S30F; 2:68871270-68871270

skinmalignant_melanomaSubstitution - Missense

c.89C>T; p.S30F; 2:68871270-68871270

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.219G>A; p.T73T; 2:68871140-68871140

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1232T>A; p.F411Y; 2:68865674-68865674

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.241C>A; p.P81T; 2:68871118-68871118

lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.346C>A; p.Q116K; 2:68866560-68866560

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.714G>A; p.R238R; 2:68866192-68866192

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.367C>G; p.L123V; 2:68866539-68866539

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.338T>G; p.L113R; 2:68866568-68866568

skinmalignant_melanomaSubstitution - Missense

c.703A>T; p.S235C; 2:68866203-68866203

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.522A>G; p.K174K; 2:68866384-68866384

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1251C>T; p.A417A; 2:68865655-68865655

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.522A>G; p.K174K; 2:68866384-68866384

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.711A>G; p.G237G; 2:68866195-68866195

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.522A>G; p.K174K; 2:68866384-68866384

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.522A>G; p.K174K; 2:68866384-68866384

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.522A>G; p.K174K; 2:68866384-68866384

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1251C>T; p.A417A; 2:68865655-68865655

oesophaguscarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1187C>T; p.P396L; 2:68865719-68865719

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.215C>A; p.P72H; 2:68871144-68871144

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.112C>T; p.L38F; 2:68871247-68871247

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.148G>A; p.D50N; 2:68871211-68871211

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.148G>A; p.D50N; 2:68871211-68871211

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.801G>A; p.K267K; 2:68866105-68866105

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.427G>A; p.A143T; 2:68866479-68866479

skinmalignant_melanomaSubstitution - Missense

c.390C>T; p.F130F; 2:68866516-68866516

skinmalignant_melanomaSubstitution - coding silent

c.1252G>A; p.V418I; 2:68865654-68865654

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1252G>A; p.V418I; 2:68865654-68865654

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.762C>T; p.I254I; 2:68866144-68866144

skinmalignant_melanomaSubstitution - coding silent

c.139G>A; p.D47N; 2:68871220-68871220

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.762C>T; p.I254I; 2:68866144-68866144

pancreascarcinomaSubstitution - coding silent

c.577G>A; p.G193R; 2:68866329-68866329

skinmalignant_melanomaSubstitution - Missense

c.577G>A; p.G193R; 2:68866329-68866329

skinmalignant_melanomaSubstitution - Missense

c.577G>A; p.G193R; 2:68866329-68866329

skinmalignant_melanomaSubstitution - Missense

c.958G>A; p.G320R; 2:68865948-68865948

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.487C>T; p.R163W; 2:68866419-68866419

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1142C>T; p.S381F; 2:68865764-68865764

skinmalignant_melanomaSubstitution - Missense

c.1137G>T; p.K379N; 2:68865769-68865769

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1209C>A; p.D403E; 2:68865697-68865697

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.1209C>A; p.D403E; 2:68865697-68865697

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.50A>T; p.Y17F; 2:68871309-68871309

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.350C>T; p.P117L; 2:68866556-68866556

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.350C>T; p.P117L; 2:68866556-68866556

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense


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