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

Basic Information

Gene ID

3486

Name

IGFBP3

Synonymous

insulin-like growth factor binding protein 3;IGFBP3;insulin-like growth factor binding protein 3

Definition

IBP-3|IGF-binding protein 3|IGFBP-3|acid stable subunit of the 140 K IGF complex|binding protein 29|binding protein 53|growth hormone-dependent binding protein|insulin-like growth factor-binding protein 3

Position

7p12.3

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 0.03.

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.754C>T; p.R252C; 7:45914942-45914942

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.754C>T; p.R252C; 7:45914942-45914942

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.839A>T; p.K280M; 7:45914857-45914857

 prostatecarcinomaSubstitution - Missense

c.839A>T; p.K280M; 7:45914857-45914857

 prostatecarcinomaSubstitution - Missense

c.712C>A; p.P238T; 7:45916586-45916586

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.641G>A; p.R214H; 7:45916657-45916657

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.570C>T; p.Y190Y; 7:45917273-45917273

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.570C>T; p.Y190Y; 7:45917273-45917273

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.471G>A; p.T157T; 7:45917372-45917372

 breastcarcinomaSubstitution - coding silent

c.619G>C; p.E207Q; 7:45917224-45917224

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.752G>A; p.C251Y; 7:45914944-45914944

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.554G>A; p.R185H; 7:45917289-45917289

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.646G>T; p.E216*; 7:45916652-45916652

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.869G>A; p.S290N; 7:45914827-45914827

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.615G>A; p.K205K; 7:45917228-45917228

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.617G>A; p.R206Q; 7:45917226-45917226

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.766G>T; p.G256C; 7:45914930-45914930

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.436G>A; p.A146T; 7:45917407-45917407

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.773A>C; p.K258T; 7:45914923-45914923

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.470C>A; p.T157K; 7:45917373-45917373

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.683A>G; p.N228S; 7:45916615-45916615

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.265G>T; p.G89C; 7:45920876-45920876

 adrenal_gland; adrenal_glandadrenal_cortical_carcinoma; functioningSubstitution - Missense

c.438C>A; p.A146A; 7:45917405-45917405

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.797A>G; p.D266G; 7:45914899-45914899

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.419C>T; p.S140L; 7:45917424-45917424

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.419C>T; p.S140L; 7:45917424-45917424

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.605C>T; p.S202F; 7:45917238-45917238

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.755G>A; p.R252H; 7:45914941-45914941

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.755G>A; p.R252H; 7:45914941-45914941

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.867G>T; p.Q289H; 7:45914829-45914829

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.473A>C; p.H158P; 7:45917370-45917370

 thyroidother; neoplasmSubstitution - Missense

c.473A>C; p.H158P; 7:45917370-45917370

 thyroidother; neoplasmSubstitution - Missense

c.419C>A; p.S140*; 7:45917424-45917424

 stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.746A>T; p.K249M; 7:45916552-45916552

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.439G>A; p.G147S; 7:45917404-45917404

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.521T>G; p.I174S; 7:45917322-45917322

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.717C>T; p.N239N; 7:45916581-45916581

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.404-1G>C; p.?; 7:45917440-45917440

 kidneycarcinoma; clear_cell_renal_cell_carcinomaUnknown

c.423G>A; p.E141E; 7:45917420-45917420

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.431G>A; p.R144H; 7:45917412-45917412

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.864G>A; p.M288I; 7:45914832-45914832

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.800A>C; p.K267T; 7:45914896-45914896

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.20C>T; p.T7M; 7:45921121-45921121

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.28G>T; p.A10S; 7:45921113-45921113

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.600C>A; p.F200L; 7:45917243-45917243

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.685G>A; p.V229M; 7:45916613-45916613

 lung; middle_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.739A>G; p.K247E; 7:45916559-45916559

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.95C>G; p.A32G; 7:45921046-45921046

 thyroidother; neoplasmSubstitution - Missense

c.606C>T; p.S202S; 7:45917237-45917237

 prostatecarcinomaSubstitution - coding silent

c.499C>T; p.P167S; 7:45917344-45917344

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.499C>T; p.P167S; 7:45917344-45917344

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.475C>T; p.R159W; 7:45917368-45917368

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.404G>A; p.G135E; 7:45917439-45917439

 skinmalignant_melanomaSubstitution - Missense

c.757C>T; p.P253S; 7:45914939-45914939

 skinmalignant_melanomaSubstitution - Missense

c.553C>T; p.R185C; 7:45917290-45917290

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.430C>T; p.R144C; 7:45917413-45917413

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.553C>T; p.R185C; 7:45917290-45917290

 pancreascarcinomaSubstitution - Missense

c.553C>T; p.R185C; 7:45917290-45917290

 pancreascarcinoma; ductal_carcinomaSubstitution - Missense

c.553C>T; p.R185C; 7:45917290-45917290

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.504C>G; p.L168L; 7:45917339-45917339

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.497A>G; p.H166R; 7:45917346-45917346

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

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