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

Basic Information

Gene ID

7447

Name

VSNL1

Synonymous

visinin-like 1;VSNL1;visinin-like 1

Definition

VLP-1|hippocalcin-like protein 3|visinin-like protein 1

Position

2p24.3

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 0.18.

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.61G>T; p.E21*; 2:17592135-17592135

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.129A>G; p.L43L; 2:17592203-17592203

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.340G>A; p.G114S; 2:17649587-17649587

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.5G>T; p.G2V; 2:17592079-17592079

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.134T>C; p.L45P; 2:17592208-17592208

 skinmalignant_melanomaSubstitution - Missense

c.531C>A; p.S177R; 2:17655349-17655349

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.195C>A; p.A65A; 2:17649442-17649442

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.271A>C; p.I91L; 2:17649518-17649518

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.136G>A; p.E46K; 2:17592210-17592210

 skinmalignant_melanomaSubstitution - Missense

c.413T>G; p.M138R; 2:17655231-17655231

 breastcarcinomaSubstitution - Missense

c.411G>T; p.M137I; 2:17655229-17655229

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.145C>T; p.Q49*; 2:17592219-17592219

 skinmalignant_melanomaSubstitution - Nonsense

c.97_98GG>AA; p.G33K; 2:17592171-17592172

 skinmalignant_melanomaSubstitution - Missense

c.25G>T; p.A9S; 2:17592099-17592099

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.140A>T; p.E47V; 2:17592214-17592214

 skinmalignant_melanomaSubstitution - Missense

c.42G>T; p.E14D; 2:17592116-17592116

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.438G>A; p.T146T; 2:17655256-17655256

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.98G>A; p.G33E; 2:17592172-17592172

 skin; trunkmalignant_melanomaSubstitution - Missense

c.24delG; p.A9fs*4; 2:17592098-17592098

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaDeletion - Frameshift

c.41A>G; p.E14G; 2:17592115-17592115

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.41A>G; p.E14G; 2:17592115-17592115

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.97G>A; p.G33R; 2:17592171-17592171

 skin; mucosalmalignant_melanomaSubstitution - Missense

c.218A>G; p.D73G; 2:17649465-17649465

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.550C>A; p.L184I; 2:17655368-17655368

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.169C>T; p.P57S; 2:17649416-17649416

 skin; mucosalmalignant_melanomaSubstitution - Missense

c.135C>T; p.L45L; 2:17592209-17592209

 skinmalignant_melanomaSubstitution - coding silent

c.103C>A; p.L35I; 2:17592177-17592177

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.263C>T; p.A88V; 2:17649510-17649510

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.136G>C; p.E46Q; 2:17592210-17592210

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.208C>T; p.R70*; 2:17649455-17649455

 pancreascarcinomaSubstitution - Nonsense

c.176G>A; p.G59E; 2:17649423-17649423

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.490G>A; p.D164N; 2:17655308-17655308

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.448C>G; p.R150G; 2:17655266-17655266

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.348C>T; p.I116I; 2:17649595-17649595

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - coding silent

c.89G>T; p.W30L; 2:17592163-17592163

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.493C>G; p.Q165E; 2:17655311-17655311

 breastcarcinomaSubstitution - Missense

c.175G>A; p.G59R; 2:17649422-17649422

 skinmalignant_melanomaSubstitution - Missense

c.357G>T; p.V119V; 2:17649604-17649604

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.138G>A; p.E46E; 2:17592212-17592212

 skinmalignant_melanomaSubstitution - coding silent

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