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

Basic Information

Gene ID

3490

Name

IGFBP7

Synonymous

insulin-like growth factor binding protein 7;IGFBP7;insulin-like growth factor binding protein 7

Definition

IGF-binding protein 7|IGFBP-rP1|PGI2-stimulating factor|angiomodulin|insulin-like growth factor-binding protein 7|prostacyclin-stimulating factor|tumor-derived adhesion factor

Position

4q12

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 0.09.

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.204C>G; p.G68G; 4:57110148-57110148

 thyroidother; neoplasmSubstitution - coding silent

c.204C>G; p.G68G; 4:57110148-57110148

 thyroidother; neoplasmSubstitution - coding silent

c.204C>G; p.G68G; 4:57110148-57110148

 thyroidother; neoplasmSubstitution - coding silent

c.533A>G; p.Y178C; 4:57040876-57040876

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.637C>T; p.R213W; 4:57033260-57033260

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.592delA; p.R198fs*32; 4:57033305-57033305

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.787A>G; p.I263V; 4:57032468-57032468

 thyroidcarcinomaSubstitution - Missense

c.568G>C; p.V190L; 4:57040841-57040841

 livercarcinomaSubstitution - Missense

c.730G>T; p.G244*; 4:57032525-57032525

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.568G>C; p.V190L; 4:57040841-57040841

 livercarcinomaSubstitution - Missense

c.830-7delT; p.?; 4:57031343-57031343

 stomachcarcinoma; diffuse_adenocarcinomaUnknown

c.763G>T; p.G255*; 4:57032492-57032492

 stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.743G>C; p.C248S; 4:57032512-57032512

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.843G>A; p.E281E; 4:57031323-57031323

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.843G>A; p.E281E; 4:57031323-57031323

 upper_aerodigestive_tract; mouthcarcinomaSubstitution - coding silent

c.745C>T; p.H249Y; 4:57032510-57032510

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.668G>A; p.G223D; 4:57033229-57033229

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.731G>T; p.G244V; 4:57032524-57032524

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.520G>A; p.G174S; 4:57040889-57040889

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.419C>A; p.A140D; 4:57109933-57109933

 livercarcinomaSubstitution - Missense

c.419C>A; p.A140D; 4:57109933-57109933

 livercarcinomaSubstitution - Missense

c.200A>G; p.E67G; 4:57110152-57110152

 thyroidother; neoplasmSubstitution - Missense

c.200A>G; p.E67G; 4:57110152-57110152

 thyroidother; neoplasmSubstitution - Missense

c.406G>A; p.A136T; 4:57109946-57109946

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.387C>T; p.S129S; 4:57109965-57109965

 thyroidcarcinomaSubstitution - coding silent

c.444C>T; p.I148I; 4:57109908-57109908

 skinmalignant_melanomaSubstitution - coding silent

c.730G>A; p.G244R; 4:57032525-57032525

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.552C>T; p.I184I; 4:57040857-57040857

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.579G>T; p.W193C; 4:57040830-57040830

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.779C>T; p.S260L; 4:57032476-57032476

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.731G>A; p.G244E; 4:57032524-57032524

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.731G>A; p.G244E; 4:57032524-57032524

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.813A>C; p.E271D; 4:57032442-57032442

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.702+3_702+6delGAGT; p.?; 4:57033189-57033192

 oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaUnknown

c.327C>T; p.G109G; 4:57110025-57110025

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.748G>A; p.A250T; 4:57032507-57032507

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.497C>A; p.P166H; 4:57040912-57040912

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.251G>T; p.G84V; 4:57110101-57110101

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.394C>T; p.Q132*; 4:57109958-57109958

 livercarcinomaSubstitution - Nonsense

c.811G>A; p.E271K; 4:57032444-57032444

 skinmalignant_melanomaSubstitution - Missense

c.600C>A; p.H200Q; 4:57033297-57033297

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.559C>T; p.P187S; 4:57040850-57040850

 skinmalignant_melanomaSubstitution - Missense

c.732A>G; p.G244G; 4:57032523-57032523

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

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