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

Basic Information

Gene ID

3487

Name

IGFBP4

Synonymous

insulin-like growth factor binding protein 4;IGFBP4;insulin-like growth factor binding protein 4

Definition

IBP-4|IGF-binding protein 4|insulin-like growth factor-binding protein 4

Position

17q21.2

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

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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 0.31.

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.518C>T; p.S173F; 17:40453938-40453938

 skin; mucosalmalignant_melanomaSubstitution - Missense

c.557_558delCC; p.A186fs*68; 17:40453977-40453978

 central_nervous_system; brainglioma; astrocytoma_Grade_IVDeletion - Frameshift

c.508-1G>T; p.?; 17:40453927-40453927

 endometriumcarcinoma; endometrioid_carcinomaUnknown

c.733G>T; p.G245W; 17:40456539-40456539

 upper_aerodigestive_tract; mouthcarcinomaSubstitution - Missense

c.733G>T; p.G245W; 17:40456539-40456539

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.539G>T; p.R180L; 17:40453959-40453959

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.660T>C; p.D220D; 17:40456466-40456466

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.478G>A; p.G160R; 17:40453113-40453113

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.507+5G>A; p.?; 17:40453147-40453147

 ovaryother; neoplasmUnknown

c.509C>T; p.P170L; 17:40453929-40453929

 oesophaguscarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.124G>A; p.V42M; 17:40443859-40443859

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.489G>A; p.R163R; 17:40453124-40453124

 skinmalignant_melanomaSubstitution - coding silent

c.598C>T; p.P200S; 17:40454018-40454018

 NSNSSubstitution - Missense

c.617G>A; p.R206H; 17:40454037-40454037

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.693G>A; p.R231R; 17:40456499-40456499

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.543G>T; p.A181A; 17:40453963-40453963

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.579C>T; p.H193H; 17:40453999-40453999

 pancreascarcinomaSubstitution - coding silent

c.358G>A; p.E120K; 17:40452993-40452993

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.436A>C; p.I146L; 17:40453071-40453071

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.697A>T; p.T233S; 17:40456503-40456503

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.640C>T; p.Q214*; 17:40454060-40454060

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.529G>A; p.E177K; 17:40453949-40453949

 breastcarcinomaSubstitution - Missense

c.604C>T; p.P202S; 17:40454024-40454024

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.117delC; p.V42fs*52; 17:40443852-40443852

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.117delC; p.V42fs*52; 17:40443852-40443852

 pancreascarcinoma; acinar_carcinomaDeletion - Frameshift

c.117delC; p.V42fs*52; 17:40443852-40443852

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.117delC; p.V42fs*52; 17:40443852-40443852

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.580G>A; p.E194K; 17:40454000-40454000

 skinmalignant_melanomaSubstitution - Missense

c.33G>A; p.L11L; 17:40443768-40443768

 stomachcarcinoma; diffuse_adenocarcinomaSubstitution - coding silent

c.737A>G; p.E246G; 17:40456543-40456543

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.733G>A; p.G245R; 17:40456539-40456539

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.740T>G; p.L247R; 17:40456546-40456546

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.528C>T; p.S176S; 17:40453948-40453948

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.482C>T; p.A161V; 17:40453117-40453117

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.577C>T; p.H193Y; 17:40453997-40453997

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.490G>T; p.E164*; 17:40453125-40453125

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.105G>A; p.L35L; 17:40443840-40443840

 thyroidother; neoplasmSubstitution - coding silent

c.105G>A; p.L35L; 17:40443840-40443840

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.105G>A; p.L35L; 17:40443840-40443840

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.105G>A; p.L35L; 17:40443840-40443840

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.712C>T; p.P238S; 17:40456518-40456518

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.599C>T; p.P200L; 17:40454019-40454019

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

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