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

Basic Information

Gene ID

347252

Name

IGFBPL1

Synonymous

insulin-like growth factor binding protein-like 1;IGFBPL1;insulin-like growth factor binding protein-like 1

Definition

IGFBP-related protein 10|insulin-like growth factor binding protein related protein 4|insulin-like growth factor-binding protein-like 1|insulin-like growth factor-binding-related protein 4

Position

9p13.1

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 0.20.

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.525C>A; p.S175S; 9:38414139-38414139

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.712G>A; p.E238K; 9:38411525-38411525

breastcarcinomaSubstitution - Missense

c.582C>T; p.S194S; 9:38413342-38413342

skinmalignant_melanomaSubstitution - coding silent

c.646C>T; p.R216*; 9:38413278-38413278

oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.646C>T; p.R216*; 9:38413278-38413278

large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

c.646C>T; p.R216*; 9:38413278-38413278

large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

c.646C>T; p.R216*; 9:38413278-38413278

large_intestine; coloncarcinomaSubstitution - Nonsense

c.646C>T; p.R216*; 9:38413278-38413278

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.646C>T; p.R216*; 9:38413278-38413278

large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

c.646C>T; p.R216*; 9:38413278-38413278

pancreascarcinomaSubstitution - Nonsense

c.498C>T; p.N166N; 9:38414166-38414166

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.667G>C; p.E223Q; 9:38413257-38413257

skinmalignant_melanomaSubstitution - Missense

c.506G>T; p.G169V; 9:38414158-38414158

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.800G>A; p.R267K; 9:38411437-38411437

skinmalignant_melanomaSubstitution - Missense

c.647G>T; p.R216L; 9:38413277-38413277

biliary_tract; bile_ductcarcinoma; adenocarcinomaSubstitution - Missense

c.44T>G; p.L15R; 9:38424381-38424381

thyroidother; neoplasmSubstitution - Missense

c.692A>G; p.N231S; 9:38411545-38411545

upper_aerodigestive_tract; pharynxcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.514G>A; p.V172M; 9:38414150-38414150

skinmalignant_melanomaSubstitution - Missense

c.464C>T; p.P155L; 9:38414200-38414200

skinmalignant_melanomaSubstitution - Missense

c.531A>C; p.E177D; 9:38414133-38414133

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.734C>T; p.A245V; 9:38411503-38411503

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.696C>T; p.P232P; 9:38411541-38411541

skinmalignant_melanomaSubstitution - coding silent

c.499G>A; p.V167I; 9:38414165-38414165

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.613C>T; p.P205S; 9:38413311-38413311

livercarcinomaSubstitution - Missense

c.613C>T; p.P205S; 9:38413311-38413311

livercarcinomaSubstitution - Missense

c.738C>T; p.A246A; 9:38411499-38411499

skinmalignant_melanomaSubstitution - coding silent

c.78T>C; p.L26L; 9:38424347-38424347

thyroidother; neoplasmSubstitution - coding silent

c.583C>T; p.P195S; 9:38413341-38413341

skinmalignant_melanomaSubstitution - Missense

c.224C>A; p.A75E; 9:38424201-38424201

livercarcinomaSubstitution - Missense

c.224C>A; p.A75E; 9:38424201-38424201

livercarcinomaSubstitution - Missense


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