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

Basic Information

Gene ID

23560

Name

GTPBP4

Synonymous

GTP binding protein 4;GTPBP4;GTP binding protein 4

Definition

G protein-binding protein CRFG|GTP-binding protein NGB|chronic renal failure gene protein|nucleolar GTP-binding protein 1

Position

10p15-p14

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 0.06.

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.1109A>T; p.D370V; 10:1007124-1007124

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.1618G>A; p.A540T; 10:1015762-1015762

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1078C>T; p.L360L; 10:1007093-1007093

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1078C>T; p.L360L; 10:1007093-1007093

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.262G>T; p.D88Y; 10:995971-995971

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.937G>T; p.E313*; 10:1005842-1005842

 pancreascarcinomaSubstitution - Nonsense

c.230C>T; p.P77L; 10:995939-995939

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.51C>A; p.D17E; 10:992491-992491

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.395C>T; p.A132V; 10:996177-996177

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1579C>A; p.L527I; 10:1014283-1014283

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.262G>A; p.D88N; 10:995971-995971

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1683G>A; p.P561P; 10:1015827-1015827

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.395C>T; p.A132V; 10:996177-996177

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.95C>A; p.T32N; 10:992535-992535

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.95C>A; p.T32N; 10:992535-992535

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.420G>T; p.V140V; 10:996202-996202

 breastcarcinomaSubstitution - coding silent

c.840C>T; p.I280I; 10:1000862-1000862

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.1606G>A; p.D536N; 10:1014310-1014310

 thyroidcarcinomaSubstitution - Missense

c.1606G>A; p.D536N; 10:1014310-1014310

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1441C>T; p.R481*; 10:1012561-1012561

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.549C>A; p.S183R; 10:997296-997296

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1462C>T; p.R488*; 10:1012582-1012582

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.196C>T; p.L66L; 10:992636-992636

 skinmalignant_melanomaSubstitution - coding silent

c.1093C>A; p.P365T; 10:1007108-1007108

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1676C>A; p.A559D; 10:1015820-1015820

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.1664G>A; p.R555Q; 10:1015808-1015808

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1715G>A; p.R572Q; 10:1015859-1015859

 central_nervous_system; braingliomaSubstitution - Missense

c.406C>T; p.R136W; 10:996188-996188

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1222G>T; p.D408Y; 10:1009559-1009559

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.1222G>T; p.D408Y; 10:1009559-1009559

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1613A>T; p.H538L; 10:1015757-1015757

 pancreascarcinoma; ductal_carcinomaSubstitution - Missense

c.546C>T; p.S182S; 10:997293-997293

 skinmalignant_melanomaSubstitution - coding silent

c.1613A>T; p.H538L; 10:1015757-1015757

 pancreascarcinomaSubstitution - Missense

c.839T>C; p.I280T; 10:1000861-1000861

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.839T>C; p.I280T; 10:1000861-1000861

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.229C>T; p.P77S; 10:995938-995938

 skinmalignant_melanomaSubstitution - Missense

c.229C>T; p.P77S; 10:995938-995938

 skinmalignant_melanomaSubstitution - Missense

c.229C>T; p.P77S; 10:995938-995938

 skinmalignant_melanomaSubstitution - Missense

c.1024C>T; p.H342Y; 10:1007039-1007039

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.503C>T; p.T168I; 10:997250-997250

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1217G>T; p.G406V; 10:1009554-1009554

 small_intestinecarcinoid-endocrine_tumourSubstitution - Missense

c.947C>T; p.P316L; 10:1005852-1005852

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1752+2T>C; p.?; 10:1015898-1015898

 stomachadenocarcinomaUnknown

c.1136A>T; p.E379V; 10:1008980-1008980

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1178C>T; p.S393F; 10:1009022-1009022

 skinmalignant_melanomaSubstitution - Missense

c.1903T>C; p.*635Q; 10:1017225-1017225

 skin; upper_legmalignant_melanomaNonstop extension

c.1579C>T; p.L527F; 10:1014283-1014283

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1044G>T; p.M348I; 10:1007059-1007059

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.941G>T; p.G314V; 10:1005846-1005846

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; hairy_cell_leukaemiaSubstitution - Missense

c.392G>A; p.R131H; 10:996174-996174

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.1463G>A; p.R488Q; 10:1012583-1012583

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1327G>C; p.D443H; 10:1010503-1010503

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.837C>T; p.F279F; 10:1000859-1000859

 thyroidcarcinomaSubstitution - coding silent

c.208C>T; p.P70S; 10:992648-992648

 skinmalignant_melanomaSubstitution - Missense

c.202G>T; p.D68Y; 10:992642-992642

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1583G>T; p.G528V; 10:1014287-1014287

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1027C>T; p.R343*; 10:1007042-1007042

 skinmalignant_melanomaSubstitution - Nonsense

c.1700G>A; p.S567N; 10:1015844-1015844

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.504C>T; p.T168T; 10:997251-997251

 prostatecarcinoma; adenocarcinomaSubstitution - coding silent

c.911A>G; p.Q304R; 10:1001012-1001012

 livercarcinomaSubstitution - Missense

c.882G>A; p.K294K; 10:1000983-1000983

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1676C>G; p.A559G; 10:1015820-1015820

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.901G>A; p.E301K; 10:1001002-1001002

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1108G>A; p.D370N; 10:1007123-1007123

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.576C>T; p.D192D; 10:999017-999017

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1355A>C; p.E452A; 10:1012475-1012475

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.27T>A; p.I9I; 10:988506-988506

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.271C>T; p.H91Y; 10:995980-995980

 skinmalignant_melanomaSubstitution - Missense

c.271C>T; p.H91Y; 10:995980-995980

 skinmalignant_melanomaSubstitution - Missense

c.597G>A; p.A199A; 10:999038-999038

 breastcarcinomaSubstitution - coding silent

c.1843G>C; p.D615H; 10:1017165-1017165

 oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.535G>A; p.V179I; 10:997282-997282

 prostatecarcinomaSubstitution - Missense

c.846G>T; p.K282N; 10:1000868-1000868

 prostatecarcinomaSubstitution - Missense

c.399C>T; p.A133A; 10:996181-996181

 skinmalignant_melanomaSubstitution - coding silent

c.1682C>A; p.P561Q; 10:1015826-1015826

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.469C>T; p.H157Y; 10:997216-997216

 central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaSubstitution - Missense

c.461T>C; p.V154A; 10:997208-997208

 breastcarcinomaSubstitution - Missense

c.1724G>C; p.R575P; 10:1015868-1015868

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.129T>C; p.I43I; 10:992569-992569

 skinmalignant_melanomaSubstitution - coding silent

c.374G>A; p.R125H; 10:996156-996156

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.374G>A; p.R125H; 10:996156-996156

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1525C>T; p.P509S; 10:1012645-1012645

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.49G>T; p.D17Y; 10:992489-992489

 breastcarcinomaSubstitution - Missense

c.49G>T; p.D17Y; 10:992489-992489

 breastcarcinomaSubstitution - Missense

c.750G>A; p.A250A; 10:1000772-1000772

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1101G>C; p.R367S; 10:1007116-1007116

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1101G>C; p.R367S; 10:1007116-1007116

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1101G>C; p.R367S; 10:1007116-1007116

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1520G>A; p.R507K; 10:1012640-1012640

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1520G>A; p.R507K; 10:1012640-1012640

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1101G>C; p.R367S; 10:1007116-1007116

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.463C>T; p.R155C; 10:997210-997210

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.732G>A; p.L244L; 10:1000754-1000754

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1468A>C; p.K490Q; 10:1012588-1012588

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.494A>T; p.D165V; 10:997241-997241

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1423G>A; p.E475K; 10:1012543-1012543

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.369C>A; p.L123L; 10:996151-996151

 thyroidcarcinomaSubstitution - coding silent

c.813C>G; p.L271L; 10:1000835-1000835

 breastcarcinomaSubstitution - coding silent

c.742C>T; p.R248C; 10:1000764-1000764

 skinmalignant_melanomaSubstitution - Missense

c.742C>T; p.R248C; 10:1000764-1000764

 livercarcinomaSubstitution - Missense

c.1354G>T; p.E452*; 10:1012474-1012474

 stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.348G>A; p.L116L; 10:996130-996130

 pancreascarcinomaSubstitution - coding silent

c.165A>T; p.Q55H; 10:992605-992605

 lungcarcinoma; non_small_cell_carcinomaSubstitution - Missense

c.165A>T; p.Q55H; 10:992605-992605

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.348G>C; p.L116L; 10:996130-996130

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.843C>A; p.N281K; 10:1000865-1000865

 thyroidcarcinomaSubstitution - Missense

c.1800G>T; p.M600I; 10:1017122-1017122

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1265T>C; p.L422S; 10:1010441-1010441

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1068G>T; p.V356V; 10:1007083-1007083

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.654G>T; p.Q218H; 10:999095-999095

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.965C>T; p.T322I; 10:1005870-1005870

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.476C>T; p.S159F; 10:997223-997223

 skinmalignant_melanomaSubstitution - Missense

c.1714C>T; p.R572*; 10:1015858-1015858

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.1574G>A; p.R525H; 10:1014278-1014278

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1529G>A; p.R510Q; 10:1012649-1012649

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1529G>A; p.R510Q; 10:1012649-1012649

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

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