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

Basic Information

Gene ID

11010

Name

GLIPR1

Synonymous

GLI pathogenesis-related 1;GLIPR1;GLI pathogenesis-related 1

Definition

GLI pathogenesis-related 1 (glioma)|gliPR 1|glioma pathogenesis-related protein 1|protein RTVP-1|related to testis-specific, vespid, and pathogenesis proteins 1|testes-specific vespid and pathogenesis protein 1

Position

12q21.2

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

Top

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

Top

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

Top

Loss of Function mutations compare to missense mutation.
The ratio of the loss-of-function mutations over missense mutations is 0.14.

The copy number variations for various cancers

Top

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.349_350ins82; p.W117fs*3; 12:75482008-75482009

 endometriumcarcinoma; endometrioid_carcinomaInsertion - Frameshift

c.115C>T; p.R39*; 12:75480995-75480995

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.667C>T; p.P223S; 12:75498844-75498844

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.535G>A; p.G179R; 12:75495578-75495578

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.363C>T; p.I121I; 12:75482022-75482022

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.762G>A; p.L254L; 12:75498939-75498939

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.4C>T; p.R2C; 12:75480884-75480884

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.482G>T; p.G161V; 12:75490467-75490467

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.393_394insA; p.V134fs*13; 12:75482052-75482053

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.33G>A; p.M11I; 12:75480913-75480913

 skinmalignant_melanomaSubstitution - Missense

c.316C>T; p.P106S; 12:75481975-75481975

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.526G>A; p.G176R; 12:75490511-75490511

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.433G>T; p.D145Y; 12:75490418-75490418

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.336C>T; p.S112S; 12:75481995-75481995

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.269A>C; p.H90P; 12:75481928-75481928

 breastcarcinomaSubstitution - Missense

c.134G>A; p.R45Q; 12:75481014-75481014

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.738A>G; p.I246M; 12:75498915-75498915

 breastcarcinomaSubstitution - Missense

c.187G>A; p.A63T; 12:75481846-75481846

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.259_260insC; p.H87fs*33; 12:75481918-75481919

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.527G>A; p.G176E; 12:75490512-75490512

 skinmalignant_melanomaSubstitution - Missense

c.124A>T; p.N42Y; 12:75481004-75481004

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.357C>T; p.D119D; 12:75482016-75482016

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.84C>A; p.I28I; 12:75480964-75480964

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.358G>A; p.E120K; 12:75482017-75482017

 skinmalignant_melanomaSubstitution - Missense

c.358G>A; p.E120K; 12:75482017-75482017

 skinmalignant_melanomaSubstitution - Missense

c.358G>A; p.E120K; 12:75482017-75482017

 skinmalignant_melanomaSubstitution - Missense

c.160G>T; p.D54Y; 12:75481040-75481040

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.428G>A; p.W143*; 12:75490413-75490413

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.500A>G; p.N167S; 12:75490485-75490485

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.454G>A; p.A152T; 12:75490439-75490439

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.211T>A; p.W71R; 12:75481870-75481870

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.534-1G>C; p.?; 12:75495576-75495576

 oesophaguscarcinoma; squamous_cell_carcinomaUnknown

c.85G>A; p.E29K; 12:75480965-75480965

 skinmalignant_melanomaSubstitution - Missense

c.85G>A; p.E29K; 12:75480965-75480965

 skinmalignant_melanomaSubstitution - Missense

c.248T>A; p.L83Q; 12:75481907-75481907

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.85G>A; p.E29K; 12:75480965-75480965

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.151A>C; p.T51P; 12:75481031-75481031

 breastcarcinomaSubstitution - Missense

c.244C>T; p.R82W; 12:75481903-75481903

 breastcarcinomaSubstitution - Missense

c.453C>T; p.C151C; 12:75490438-75490438

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.453C>T; p.C151C; 12:75490438-75490438

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.118A>G; p.I40V; 12:75480998-75480998

 skinmalignant_melanomaSubstitution - Missense

c.714C>G; p.L238L; 12:75498891-75498891

 pancreascarcinomaSubstitution - coding silent

c.244C>A; p.R82R; 12:75481903-75481903

 livercarcinomaSubstitution - coding silent

c.244C>A; p.R82R; 12:75481903-75481903

 livercarcinomaSubstitution - coding silent

c.246G>A; p.R82R; 12:75481905-75481905

 skinmalignant_melanomaSubstitution - coding silent

c.426T>C; p.V142V; 12:75490411-75490411

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.667C>G; p.P223A; 12:75498844-75498844

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.436A>G; p.S146G; 12:75490421-75490421

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.386G>A; p.R129Q; 12:75482045-75482045

 skin; nipplemalignant_melanomaSubstitution - Missense

c.187G>C; p.A63P; 12:75481846-75481846

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.337G>A; p.A113T; 12:75481996-75481996

 breastcarcinomaSubstitution - Missense

c.288G>A; p.L96L; 12:75481947-75481947

 skinmalignant_melanomaSubstitution - coding silent

c.385C>T; p.R129W; 12:75482044-75482044

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.122A>G; p.H41R; 12:75481002-75481002

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.448G>A; p.G150S; 12:75490433-75490433

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.203C>T; p.A68V; 12:75481862-75481862

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.790C>A; p.L264I; 12:75498967-75498967

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.39T>G; p.S13S; 12:75480919-75480919

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.790C>A; p.L264I; 12:75498967-75498967

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.294G>C; p.E98D; 12:75481953-75481953

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.178T>A; p.W60R; 12:75481837-75481837

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.38C>A; p.S13Y; 12:75480918-75480918

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.38C>A; p.S13Y; 12:75480918-75480918

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

')