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

Basic Information

Gene ID

27165

Name

GLS2

Synonymous

glutaminase 2 (liver, mitochondrial);GLS2;glutaminase 2 (liver, mitochondrial)

Definition

L-glutamine amidohydrolase|breast cell glutaminase|glutaminase I|glutaminase liver isoform, mitochondrial|phosphate-activated glutaminase|phosphate-dependent glutaminase

Position

12q13.3

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

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 0.12.

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.480C>A; p.F160L; 12:56479106-56479106

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.538G>A; p.A180T; 12:56478259-56478259

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.969C>T; p.A323A; 12:56475071-56475071

 skinmalignant_melanomaSubstitution - coding silent

c.414C>T; p.S138S; 12:56479172-56479172

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1411C>T; p.R471W; 12:56473266-56473266

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1411C>T; p.R471W; 12:56473266-56473266

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1411C>A; p.R471R; 12:56473266-56473266

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.262C>T; p.P88S; 12:56480308-56480308

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.517G>A; p.E173K; 12:56479069-56479069

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.525T>C; p.T175T; 12:56479061-56479061

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.918C>T; p.F306F; 12:56475635-56475635

 oesophaguscarcinomaSubstitution - coding silent

c.1523C>G; p.S508*; 12:56472184-56472184

 urinary_tract; bladdercarcinomaSubstitution - Nonsense

c.1484A>G; p.Y495C; 12:56472717-56472717

 pancreascarcinomaSubstitution - Missense

c.1484A>G; p.Y495C; 12:56472717-56472717

 pancreascarcinomaSubstitution - Missense

c.183-4A>G; p.?; 12:56480391-56480391

 ovaryother; neoplasmUnknown

c.89C>T; p.P30L; 12:56488030-56488030

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1649A>G; p.D550G; 12:56471776-56471776

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1412G>A; p.R471Q; 12:56473265-56473265

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.615-1_617delGGCA; p.?; 12:56478094-56478097

 large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.1123A>G; p.I375V; 12:56474645-56474645

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1102G>A; p.A368T; 12:56474666-56474666

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.584G>A; p.G195D; 12:56478213-56478213

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1669C>T; p.L557L; 12:56471627-56471627

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1454A>C; p.K485T; 12:56472747-56472747

 livercarcinomaSubstitution - Missense

c.212G>A; p.R71H; 12:56480358-56480358

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.319C>T; p.R107W; 12:56479865-56479865

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.319C>T; p.R107W; 12:56479865-56479865

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1586A>C; p.E529A; 12:56472121-56472121

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1646delA; p.K549fs*50; 12:56471779-56471779

 lungcarcinoma; adenocarcinomaDeletion - Frameshift

c.487C>G; p.H163D; 12:56479099-56479099

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.654G>A; p.Q218Q; 12:56478057-56478057

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.673A>C; p.T225P; 12:56478038-56478038

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1101C>T; p.L367L; 12:56474667-56474667

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1101C>T; p.L367L; 12:56474667-56474667

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1558C>T; p.R520C; 12:56472149-56472149

 pancreascarcinomaSubstitution - Missense

c.1558C>T; p.R520C; 12:56472149-56472149

 pancreascarcinomaSubstitution - Missense

c.1447C>T; p.R483W; 12:56473230-56473230

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1558C>T; p.R520C; 12:56472149-56472149

 pancreascarcinomaSubstitution - Missense

c.1559G>A; p.R520H; 12:56472148-56472148

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1177A>G; p.M393V; 12:56474591-56474591

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.422T>C; p.I141T; 12:56479164-56479164

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1650C>A; p.D550E; 12:56471775-56471775

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1786G>A; p.E596K; 12:56471510-56471510

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.954G>A; p.G318G; 12:56475086-56475086

 skinmalignant_melanomaSubstitution - coding silent

c.1614G>A; p.L538L; 12:56471811-56471811

 oesophaguscarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1475T>A; p.F492Y; 12:56472726-56472726

 oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1032T>C; p.L344L; 12:56474861-56474861

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1339_1340GG>AA; p.G447K; 12:56473479-56473480

 skinmalignant_melanomaSubstitution - Missense

c.1648G>T; p.D550Y; 12:56471777-56471777

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1771G>A; p.E591K; 12:56471525-56471525

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.987G>A; p.K329K; 12:56475053-56475053

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1117T>C; p.C373R; 12:56474651-56474651

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1117T>C; p.C373R; 12:56474651-56474651

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.930-1G>A; p.?; 12:56475111-56475111

 skinmalignant_melanomaUnknown

c.325C>T; p.R109*; 12:56479859-56479859

 pituitary; craniopharyngeal_ductcraniopharyngioma; adamantinomatousSubstitution - Nonsense

c.1536G>A; p.M512I; 12:56472171-56472171

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.256C>T; p.R86*; 12:56480314-56480314

 large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

c.1703T>G; p.V568G; 12:56471593-56471593

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.257G>A; p.R86Q; 12:56480313-56480313

 skinmalignant_melanomaSubstitution - Missense

c.257G>A; p.R86Q; 12:56480313-56480313

 skin; neckmalignant_melanomaSubstitution - Missense

c.1491C>T; p.G497G; 12:56472710-56472710

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1647delG; p.D550fs*49; 12:56471778-56471778

 lungcarcinoma; adenocarcinomaDeletion - Frameshift

c.1325G>A; p.G442E; 12:56473494-56473494

 stomachadenocarcinomaSubstitution - Missense

c.1501G>T; p.A501S; 12:56472700-56472700

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.58C>G; p.R20G; 12:56488061-56488061

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1795G>T; p.E599*; 12:56471501-56471501

 adrenal_gland; adrenal_glandadrenal_cortical_carcinoma; functioningSubstitution - Nonsense

c.394C>A; p.L132I; 12:56479790-56479790

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.186T>C; p.D62D; 12:56480384-56480384

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.276C>A; p.F92L; 12:56480294-56480294

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.984C>G; p.L328L; 12:56475056-56475056

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.865G>C; p.D289H; 12:56475950-56475950

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1189G>A; p.G397S; 12:56474579-56474579

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.94C>A; p.L32I; 12:56488025-56488025

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1727A>T; p.Q576L; 12:56471569-56471569

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.326G>A; p.R109Q; 12:56479858-56479858

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.946G>A; p.E316K; 12:56475094-56475094

 skinmalignant_melanomaSubstitution - Missense

c.1326G>A; p.G442G; 12:56473493-56473493

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - coding silent

c.1326G>A; p.G442G; 12:56473493-56473493

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.228C>A; p.L76L; 12:56480342-56480342

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.388C>A; p.R130R; 12:56479796-56479796

 central_nervous_system; medullaprimitive_neuroectodermal_tumour-medulloblastoma; classicSubstitution - coding silent

c.58C>T; p.R20*; 12:56488061-56488061

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.1127C>T; p.T376I; 12:56474641-56474641

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.748C>T; p.R250C; 12:56477963-56477963

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.304C>T; p.Q102*; 12:56479880-56479880

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.1494T>C; p.D498D; 12:56472707-56472707

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1494T>C; p.D498D; 12:56472707-56472707

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1494T>C; p.D498D; 12:56472707-56472707

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1617C>T; p.I539I; 12:56471808-56471808

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1617C>T; p.I539I; 12:56471808-56471808

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1180C>T; p.H394Y; 12:56474588-56474588

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1016A>G; p.D339G; 12:56474877-56474877

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1053T>C; p.C351C; 12:56474715-56474715

 bone; femurchondrosarcomaSubstitution - coding silent

c.1430G>A; p.R477H; 12:56473247-56473247

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1287G>A; p.M429I; 12:56473532-56473532

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1310_1311insC; p.L438fs*9; 12:56473508-56473509

 large_intestinecarcinoma; adenocarcinomaInsertion - Frameshift

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