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

Basic Information

Gene ID

9636

Name

ISG15

Synonymous

ISG15 ubiquitin-like modifier;ISG15;ISG15 ubiquitin-like modifier

Definition

interferon, alpha-inducible protein (clone IFI-15K)|interferon-induced 17-kDa/15-kDa protein|interferon-stimulated protein, 15 kDa|ubiquitin cross-reactive protein|ubiquitin-like protein ISG15

Position

1p36.33

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 0.00.

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.392T>C; p.L131P; 1:1014372-1014372

 large_intestine; coloncarcinomaSubstitution - Missense

c.392T>C; p.L131P; 1:1014372-1014372

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.84G>A; p.L28L; 1:1014064-1014064

 upper_aerodigestive_tract; pharynxcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.379G>A; p.E127K; 1:1014359-1014359

 skinmalignant_melanomaSubstitution - Missense

c.486C>T; p.G162G; 1:1014466-1014466

 prostatecarcinoma; adenocarcinomaSubstitution - coding silent

c.486C>T; p.G162G; 1:1014466-1014466

 pancreascarcinomaSubstitution - coding silent

c.202G>A; p.G68S; 1:1014182-1014182

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.363G>A; p.L121L; 1:1014343-1014343

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.209C>T; p.T70M; 1:1014189-1014189

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.109G>A; p.G37S; 1:1014089-1014089

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.159G>A; p.A53A; 1:1014139-1014139

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.294A>G; p.V98V; 1:1014274-1014274

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.446T>C; p.F149S; 1:1014426-1014426

 lungcarcinoma; non_small_cell_carcinomaSubstitution - Missense

c.382G>T; p.G128W; 1:1014362-1014362

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.248G>A; p.S83N; 1:1014228-1014228

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.248G>A; p.S83N; 1:1014228-1014228

 thyroidother; neoplasmSubstitution - Missense

c.219G>T; p.L73L; 1:1014199-1014199

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.178C>A; p.L60I; 1:1014158-1014158

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.131G>T; p.R44L; 1:1014111-1014111

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.118G>A; p.A40T; 1:1014098-1014098

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.118G>A; p.A40T; 1:1014098-1014098

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.55C>T; p.L19L; 1:1014035-1014035

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

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