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

Basic Information

Gene ID

2633

Name

GBP1

Synonymous

guanylate binding protein 1, interferon-inducible;GBP1;guanylate binding protein 1, interferon-inducible

Definition

GBP-1|GTP-binding protein 1|guanine nucleotide-binding protein 1|guanylate binding protein 1, interferon-inducible, 67kDa|huGBP-1|interferon-induced guanylate-binding protein 1

Position

1p22.2

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 0.10.

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.785T>C; p.F262S; 1:89058081-89058081

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.792A>G; p.Q264Q; 1:89058074-89058074

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1742C>T; p.T581M; 1:89053392-89053392

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1742C>T; p.T581M; 1:89053392-89053392

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1742C>T; p.T581M; 1:89053392-89053392

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1317G>T; p.K439N; 1:89056067-89056067

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.757C>T; p.L253L; 1:89058109-89058109

 skinmalignant_melanomaSubstitution - coding silent

c.251C>T; p.P84L; 1:89060264-89060264

 thyroidcarcinoma; medullary_carcinomaSubstitution - Missense

c.90C>T; p.I30I; 1:89063145-89063145

 skinmalignant_melanomaSubstitution - coding silent

c.1141C>T; p.Q381*; 1:89056868-89056868

 ovarycarcinoma; serous_carcinomaSubstitution - Nonsense

c.143G>A; p.R48H; 1:89063092-89063092

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1522G>C; p.E508Q; 1:89054825-89054825

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.927G>A; p.L309L; 1:89057082-89057082

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1271C>T; p.A424V; 1:89056113-89056113

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1011G>A; p.Q337Q; 1:89056998-89056998

 skinmalignant_melanomaSubstitution - coding silent

c.1262_1264delAAG; p.E421delE; 1:89056120-89056122

 breastcarcinomaDeletion - In frame

c.900C>T; p.Y300Y; 1:89057109-89057109

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.348C>T; p.F116F; 1:89059397-89059397

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1309G>A; p.V437I; 1:89056075-89056075

 eye; uveal_tractmalignant_melanoma; spindleSubstitution - Missense

c.1175G>A; p.R392Q; 1:89056209-89056209

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1359G>T; p.K453N; 1:89056025-89056025

 large_intestine; coloncarcinomaSubstitution - Missense

c.27C>A; p.G9G; 1:89063208-89063208

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - coding silent

c.27C>A; p.G9G; 1:89063208-89063208

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.222C>A; p.H74Q; 1:89060293-89060293

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.459A>G; p.R153R; 1:89059013-89059013

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1172delA; p.K391fs*28; 1:89056212-89056212

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.1172delA; p.K391fs*28; 1:89056212-89056212

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1743G>T; p.T581T; 1:89053391-89053391

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1600A>C; p.K534Q; 1:89054747-89054747

 skinmalignant_melanomaSubstitution - Missense

c.1505C>T; p.S502L; 1:89054842-89054842

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.679C>T; p.R227W; 1:89058187-89058187

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1352C>T; p.P451L; 1:89056032-89056032

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.632-10G>A; p.?; 1:89058244-89058244

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaUnknown

c.1716G>A; p.M572I; 1:89053418-89053418

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.5C>A; p.A2E; 1:89063230-89063230

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1743G>A; p.T581T; 1:89053391-89053391

 breastcarcinomaSubstitution - coding silent

c.1620C>G; p.V540V; 1:89054727-89054727

 central_nervous_system; braingliomaSubstitution - coding silent

c.356C>T; p.A119V; 1:89059389-89059389

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.127A>G; p.I43V; 1:89063108-89063108

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.429-3C>A; p.?; 1:89059046-89059046

 lungcarcinoma; squamous_cell_carcinomaUnknown

c.1143A>G; p.Q381Q; 1:89056866-89056866

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.737A>C; p.K246T; 1:89058129-89058129

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.522C>T; p.F174F; 1:89058950-89058950

 breastcarcinomaSubstitution - coding silent

c.1089_1090insAG; p.A364fs*22; 1:89056919-89056920

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.1620C>A; p.V540V; 1:89054727-89054727

 skinmalignant_melanomaSubstitution - coding silent

c.199C>A; p.L67M; 1:89060316-89060316

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.210G>A; p.T70T; 1:89060305-89060305

 breastcarcinomaSubstitution - coding silent

c.1576G>A; p.E526K; 1:89054771-89054771

 skinmalignant_melanomaSubstitution - Missense

c.901G>A; p.V301I; 1:89057108-89057108

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.670C>A; p.L224I; 1:89058196-89058196

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1145delA; p.K382fs*3; 1:89056864-89056864

 large_intestine; rectumcarcinoma; adenocarcinomaDeletion - Frameshift

c.624G>A; p.L208L; 1:89058848-89058848

 skinmalignant_melanomaSubstitution - coding silent

c.189G>T; p.K63N; 1:89063046-89063046

 thyroidother; neoplasmSubstitution - Missense

c.415A>G; p.M139V; 1:89059330-89059330

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.395G>A; p.G132E; 1:89059350-89059350

 skinmalignant_melanomaSubstitution - Missense

c.1633G>T; p.E545*; 1:89054714-89054714

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1327C>T; p.L443L; 1:89056057-89056057

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1283C>T; p.S428L; 1:89056101-89056101

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1283C>T; p.S428L; 1:89056101-89056101

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1707C>T; p.S569S; 1:89053427-89053427

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.735G>A; p.R245R; 1:89058131-89058131

 skinmalignant_melanomaSubstitution - coding silent

c.1435G>A; p.D479N; 1:89055149-89055149

 skinmalignant_melanomaSubstitution - Missense

c.1610A>G; p.N537S; 1:89054737-89054737

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.942C>T; p.N314N; 1:89057067-89057067

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.155C>A; p.S52Y; 1:89063080-89063080

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1217G>A; p.R406H; 1:89056167-89056167

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1217G>A; p.R406H; 1:89056167-89056167

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.14T>C; p.I5T; 1:89063221-89063221

 stomachadenocarcinomaSubstitution - Missense

c.1160A>G; p.Q387R; 1:89056224-89056224

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.122T>C; p.V41A; 1:89063113-89063113

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.645A>T; p.K215N; 1:89058221-89058221

 oesophaguscarcinomaSubstitution - Missense

c.1047C>A; p.T349T; 1:89056962-89056962

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.188A>G; p.K63R; 1:89063047-89063047

 lung; middle_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.874+1G>A; p.?; 1:89057991-89057991

 lungcarcinoma; squamous_cell_carcinomaUnknown

c.723C>T; p.P241P; 1:89058143-89058143

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.672C>G; p.L224L; 1:89058194-89058194

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.1518G>T; p.L506F; 1:89054829-89054829

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.1616G>T; p.R539M; 1:89054731-89054731

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.780C>A; p.P260P; 1:89058086-89058086

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.69G>A; p.A23A; 1:89063166-89063166

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.819C>T; p.I273I; 1:89058047-89058047

 skin; armmalignant_melanomaSubstitution - coding silent

c.1059G>T; p.L353L; 1:89056950-89056950

 autonomic_ganglianeuroblastomaSubstitution - coding silent

c.8C>T; p.S3L; 1:89063227-89063227

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.59G>A; p.R20Q; 1:89063176-89063176

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.787G>A; p.V263M; 1:89058079-89058079

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.1046C>G; p.T349S; 1:89056963-89056963

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.1046C>G; p.T349S; 1:89056963-89056963

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.499G>A; p.D167N; 1:89058973-89058973

 skinmalignant_melanomaSubstitution - Missense

c.1737C>G; p.L579L; 1:89053397-89053397

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1709G>T; p.R570I; 1:89053425-89053425

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasmSubstitution - Missense

c.1250C>T; p.P417L; 1:89056134-89056134

 skin; trunkmalignant_melanoma; nodularSubstitution - Missense

c.1284G>A; p.S428S; 1:89056100-89056100

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1284G>A; p.S428S; 1:89056100-89056100

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.458G>A; p.R153Q; 1:89059014-89059014

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1282T>A; p.S428T; 1:89056102-89056102

 pituitary; craniopharyngeal_ductcraniopharyngioma; adamantinomatousSubstitution - Missense

c.1300C>T; p.R434C; 1:89056084-89056084

 skinmalignant_melanomaSubstitution - Missense

c.1300C>T; p.R434C; 1:89056084-89056084

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1300C>T; p.R434C; 1:89056084-89056084

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.579A>G; p.G193G; 1:89058893-89058893

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.177T>A; p.A59A; 1:89063058-89063058

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1377G>A; p.E459E; 1:89055207-89055207

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - coding silent

c.867C>T; p.N289N; 1:89057999-89057999

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1377G>A; p.E459E; 1:89055207-89055207

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.1270G>A; p.A424T; 1:89056114-89056114

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1728A>G; p.I576M; 1:89053406-89053406

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1728A>G; p.I576M; 1:89053406-89053406

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.295G>A; p.E99K; 1:89060220-89060220

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.295G>A; p.E99K; 1:89060220-89060220

 biliary_tract; gallbladdercarcinoma; adenocarcinomaSubstitution - Missense

c.696G>T; p.K232N; 1:89058170-89058170

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1054G>C; p.E352Q; 1:89056955-89056955

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.57G>A; p.G19G; 1:89063178-89063178

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.943G>A; p.A315T; 1:89057066-89057066

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1226C>G; p.A409G; 1:89056158-89056158

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.943G>A; p.A315T; 1:89057066-89057066

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1344T>C; p.Y448Y; 1:89056040-89056040

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1226C>G; p.A409G; 1:89056158-89056158

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.943G>A; p.A315T; 1:89057066-89057066

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.58C>T; p.R20*; 1:89063177-89063177

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.1180G>A; p.D394N; 1:89056204-89056204

 skinmalignant_melanomaSubstitution - Missense

c.58C>T; p.R20*; 1:89063177-89063177

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.1416T>C; p.T472T; 1:89055168-89055168

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1702G>T; p.E568*; 1:89053432-89053432

 breastcarcinomaSubstitution - Nonsense

c.875-1G>A; p.?; 1:89057135-89057135

 livercarcinomaUnknown

c.1147G>A; p.E383K; 1:89056862-89056862

 skinmalignant_melanomaSubstitution - Missense

c.1561G>A; p.E521K; 1:89054786-89054786

 skin; scalpmalignant_melanomaSubstitution - Missense

c.1732G>A; p.D578N; 1:89053402-89053402

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1652C>T; p.A551V; 1:89054695-89054695

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1757G>A; p.R586Q; 1:89053377-89053377

 skin; mucosalmalignant_melanomaSubstitution - Missense

c.294C>T; p.T98T; 1:89060221-89060221

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.294C>T; p.T98T; 1:89060221-89060221

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.294C>T; p.T98T; 1:89060221-89060221

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1533A>C; p.R511S; 1:89054814-89054814

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.841A>C; p.T281P; 1:89058025-89058025

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.230G>A; p.G77E; 1:89060285-89060285

 skinmalignant_melanomaSubstitution - Missense

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