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

Basic Information

Gene ID

3488

Name

IGFBP5

Synonymous

insulin-like growth factor binding protein 5;IGFBP5;insulin-like growth factor binding protein 5

Definition

IBP-5|IGF-binding protein 5|IGFBP-5|insulin-like growth factor-binding protein 5

Position

2q35

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 0.17.

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.605A>C; p.E202A; 2:216678194-216678194

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.388G>A; p.E130K; 2:216679029-216679029

 breastcarcinomaSubstitution - Missense

c.578G>A; p.R193H; 2:216678221-216678221

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.601C>T; p.Q201*; 2:216678198-216678198

 stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.414G>T; p.R138R; 2:216679003-216679003

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.378G>A; p.E126E; 2:216679039-216679039

 skinmalignant_melanomaSubstitution - coding silent

c.707G>A; p.R236H; 2:216676863-216676863

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.798C>T; p.F266F; 2:216676772-216676772

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.603G>T; p.Q201H; 2:216678196-216678196

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.217C>T; p.R73C; 2:216694559-216694559

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.36C>T; p.A12A; 2:216694740-216694740

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.526delC; p.R176fs*8; 2:216678891-216678891

 pancreascarcinoma; ductal_carcinomaDeletion - Frameshift

c.120delC; p.S41fs*17; 2:216694656-216694656

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.247delC; p.R83fs*65; 2:216694529-216694529

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.565C>A; p.Q189K; 2:216678852-216678852

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.812T>C; p.V271A; 2:216676758-216676758

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.701G>A; p.R234H; 2:216676869-216676869

 pancreascarcinomaSubstitution - Missense

c.434C>T; p.S145F; 2:216678983-216678983

 skinmalignant_melanomaSubstitution - Missense

c.726G>A; p.W242*; 2:216676844-216676844

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Nonsense

c.667G>T; p.G223*; 2:216678132-216678132

 large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

c.37G>A; p.A13T; 2:216694739-216694739

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.638C>T; p.A213V; 2:216678161-216678161

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.507C>T; p.A169A; 2:216678910-216678910

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.585C>T; p.H195H; 2:216678214-216678214

 breastcarcinomaSubstitution - coding silent

c.538G>A; p.A180T; 2:216678879-216678879

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.742G>T; p.G248W; 2:216676828-216676828

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.196T>C; p.S66P; 2:216694580-216694580

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.196T>C; p.S66P; 2:216694580-216694580

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.435C>T; p.S145S; 2:216678982-216678982

 skinmalignant_melanomaSubstitution - coding silent

c.435C>T; p.S145S; 2:216678982-216678982

 skinmalignant_melanomaSubstitution - coding silent

c.623G>A; p.R208H; 2:216678176-216678176

 pancreascarcinoma; ductal_carcinomaSubstitution - Missense

c.623G>A; p.R208H; 2:216678176-216678176

 pancreascarcinomaSubstitution - Missense

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