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

Basic Information

Gene ID

2203

Name

FBP1

Synonymous

fructose-1,6-bisphosphatase 1;FBP1;fructose-1,6-bisphosphatase 1

Definition

D-fructose-1,6-bisphosphate 1-phosphohydrolase 1|FBPase 1|fructose-bisphosphatase 1|growth-inhibiting protein 17|liver FBPase

Position

9q22.3

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

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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

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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

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Loss of Function mutations compare to missense mutation.
The ratio of the loss-of-function mutations over missense mutations is 0.00.

The copy number variations for various cancers

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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.189T>C; p.S63S; 9:94620473-94620473

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.699C>T; p.F233F; 9:94606821-94606821

 skinmalignant_melanomaSubstitution - coding silent

c.309C>A; p.A103A; 9:94620353-94620353

 skinmalignant_melanomaSubstitution - coding silent

c.976C>A; p.L326I; 9:94603422-94603422

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.210A>G; p.Q70Q; 9:94620452-94620452

 stomachcarcinoma; diffuse_adenocarcinomaSubstitution - coding silent

c.361C>T; p.L121F; 9:94617833-94617833

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.332G>A; p.R111K; 9:94620330-94620330

 skinmalignant_melanomaSubstitution - Missense

c.826-3C>T; p.?; 9:94603575-94603575

 skin; head_neckcarcinoma; squamous_cell_carcinomaUnknown

c.790C>T; p.L264L; 9:94605492-94605492

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.984C>T; p.F328F; 9:94603414-94603414

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.322C>T; p.P108S; 9:94620340-94620340

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.931A>G; p.I311V; 9:94603467-94603467

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.387C>T; p.C129C; 9:94617807-94617807

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.860A>G; p.Y287C; 9:94603538-94603538

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.719C>T; p.P240L; 9:94605563-94605563

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.412G>T; p.G138C; 9:94617782-94617782

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.772G>T; p.V258F; 9:94605510-94605510

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.798C>T; p.P266P; 9:94605484-94605484

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.397G>A; p.V133I; 9:94617797-94617797

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.145G>C; p.V49L; 9:94639166-94639166

 breastcarcinomaSubstitution - Missense

c.532A>G; p.M178V; 9:94609956-94609956

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.532A>G; p.M178V; 9:94609956-94609956

 haematopoietic_and_lymphoid_tissue; central_nervous_systemlymphoid_neoplasm; primary_central_nervous_system_lymphomaSubstitution - Missense

c.693G>A; p.K231K; 9:94606827-94606827

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.862G>T; p.V288F; 9:94603536-94603536

 lung; left_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.708T>G; p.D236E; 9:94605574-94605574

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.45C>G; p.T15T; 9:94639266-94639266

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.710A>T; p.N237I; 9:94605572-94605572

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.238G>A; p.D80N; 9:94620424-94620424

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.676G>A; p.E226K; 9:94606844-94606844

 breastcarcinomaSubstitution - Missense

c.989_992delAGGT; p.K330fs*>8; 9:94603406-94603409

 kidneycarcinoma; clear_cell_renal_cell_carcinomaDeletion - Frameshift

c.853A>C; p.M285L; 9:94603545-94603545

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.360C>T; p.P120P; 9:94617834-94617834

 skinmalignant_melanomaSubstitution - coding silent

c.491G>A; p.G164D; 9:94609997-94609997

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.19T>C; p.F7L; 9:94639292-94639292

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.960A>G; p.G320G; 9:94603438-94603438

 livercarcinoma; hepatocellular_carcinomaSubstitution - coding silent

c.651C>T; p.A217A; 9:94606869-94606869

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.960A>G; p.G320G; 9:94603438-94603438

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.651C>T; p.A217A; 9:94606869-94606869

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.942G>A; p.R314R; 9:94603456-94603456

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.942G>A; p.R314R; 9:94603456-94603456

 skinmalignant_melanomaSubstitution - coding silent

c.814C>T; p.P272S; 9:94605468-94605468

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.922C>T; p.P308S; 9:94603476-94603476

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.647A>G; p.Y216C; 9:94606873-94606873

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.477C>G; p.N159K; 9:94610011-94610011

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.865A>C; p.M289L; 9:94603533-94603533

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.598G>A; p.D200N; 9:94606922-94606922

 skinmalignant_melanomaSubstitution - Missense

c.867G>A; p.M289I; 9:94603531-94603531

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.867G>A; p.M289I; 9:94603531-94603531

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.586T>A; p.L196M; 9:94606934-94606934

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.606G>A; p.K202K; 9:94606914-94606914

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - coding silent

c.237C>T; p.N79N; 9:94620425-94620425

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.267C>T; p.S89S; 9:94620395-94620395

 skinmalignant_melanomaSubstitution - coding silent

c.267C>T; p.S89S; 9:94620395-94620395

 skinmalignant_melanomaSubstitution - coding silent

c.474G>A; p.R158R; 9:94610014-94610014

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.996T>C; p.Y332Y; 9:94603402-94603402

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.907G>T; p.V303L; 9:94603491-94603491

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.88G>A; p.E30K; 9:94639223-94639223

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

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