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

Basic Information

Gene ID

3479

Name

IGF1

Synonymous

insulin-like growth factor 1 (somatomedin C);IGF1;insulin-like growth factor 1 (somatomedin C)

Definition

IGF-IA|IGF-IB|MGF|insulin-like growth factor I|insulin-like growth factor IA|insulin-like growth factor IB|mechano growth factor|somatomedin-C

Position

12q23.2

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 0.05.

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.456G>C; p.R152S; 12:102402513-102402513

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.48T>G; p.F16L; 12:102480334-102480334

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.86C>T; p.S29F; 12:102475777-102475777

 skinmalignant_melanomaSubstitution - Missense

c.64G>A; p.V22M; 12:102475799-102475799

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.277G>A; p.D93N; 12:102419634-102419634

 skinmalignant_melanomaSubstitution - Missense

c.193G>A; p.V65M; 12:102475670-102475670

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.192C>T; p.F64F; 12:102475671-102475671

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.192C>T; p.F64F; 12:102475671-102475671

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.95T>A; p.L32H; 12:102475768-102475768

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.374G>T; p.R125L; 12:102419537-102419537

 thyroidother; neoplasmSubstitution - Missense

c.212T>G; p.F71C; 12:102475651-102475651

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.317A>T; p.E106V; 12:102419594-102419594

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.327C>T; p.C109C; 12:102419584-102419584

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.402G>A; p.K134K; 12:102419509-102419509

 pancreascarcinomaSubstitution - coding silent

c.157C>T; p.L53F; 12:102475706-102475706

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.167C>A; p.A56D; 12:102475696-102475696

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.293G>A; p.R98Q; 12:102419618-102419618

 skinmalignant_melanomaSubstitution - Missense

c.293G>A; p.R98Q; 12:102419618-102419618

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.293G>A; p.R98Q; 12:102419618-102419618

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.403G>A; p.E135K; 12:102402566-102402566

 oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.352G>A; p.A118T; 12:102419559-102419559

 skinmalignant_melanomaSubstitution - Missense

c.352G>A; p.A118T; 12:102419559-102419559

 skinmalignant_melanomaSubstitution - Missense

c.364C>T; p.R122C; 12:102419547-102419547

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.361G>T; p.V121F; 12:102419550-102419550

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.347A>C; p.K116T; 12:102419564-102419564

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.373C>T; p.R125C; 12:102419538-102419538

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.394A>G; p.T132A; 12:102419517-102419517

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.199G>A; p.G67R; 12:102475664-102475664

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.462G>T; p.*154Y; 12:102402507-102402507

 lungcarcinoma; adenocarcinomaNonstop extension

c.258G>A; p.A86A; 12:102419653-102419653

 soft_tissue; striated_musclerhabdomyosarcomaSubstitution - coding silent

c.64G>T; p.V22L; 12:102475799-102475799

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.129C>T; p.T43T; 12:102475734-102475734

 skinmalignant_melanomaSubstitution - coding silent

c.444C>G; p.N148K; 12:102402525-102402525

 pancreascarcinomaSubstitution - Missense

c.108G>A; p.A36A; 12:102475755-102475755

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.200G>A; p.G67E; 12:102475663-102475663

 skinmalignant_melanomaSubstitution - Missense

c.200G>A; p.G67E; 12:102475663-102475663

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.269G>T; p.G90V; 12:102419642-102419642

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.133T>G; p.S45A; 12:102475730-102475730

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.345delC; p.K116fs*23; 12:102419566-102419566

 lungcarcinoma; adenocarcinomaDeletion - Frameshift

c.257C>T; p.A86V; 12:102419654-102419654

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.335T>C; p.L112P; 12:102419576-102419576

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.57C>A; p.F19L; 12:102480325-102480325

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.57C>A; p.F19L; 12:102480325-102480325

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

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