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

Basic Information

Gene ID

29997

Name

GLTSCR2

Synonymous

glioma tumor suppressor candidate region gene 2;GLTSCR2;glioma tumor suppressor candidate region gene 2

Definition

glioma tumor suppressor candidate region gene 2 protein|p60|protein interacting with carboxyl terminus 1

Position

19q13.3

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.1415C>T; p.A472V; 19:47756729-47756729

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1005G>A; p.E335E; 19:47754843-47754843

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1022A>G; p.Q341R; 19:47754860-47754860

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1022A>G; p.Q341R; 19:47754860-47754860

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1022A>G; p.Q341R; 19:47754860-47754860

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1361G>A; p.R454Q; 19:47756592-47756592

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.570G>A; p.R190R; 19:47751079-47751079

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.570G>A; p.R190R; 19:47751079-47751079

 thyroidcarcinomaSubstitution - coding silent

c.1166A>C; p.Q389P; 19:47755460-47755460

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1166A>C; p.Q389P; 19:47755460-47755460

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1166A>C; p.Q389P; 19:47755460-47755460

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1148C>T; p.A383V; 19:47755442-47755442

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1148C>T; p.A383V; 19:47755442-47755442

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1148C>T; p.A383V; 19:47755442-47755442

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1148C>T; p.A383V; 19:47755442-47755442

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.305G>T; p.R102I; 19:47750193-47750193

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.670C>T; p.R224W; 19:47752512-47752512

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.35G>A; p.R12H; 19:47745594-47745594

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.639C>T; p.F213F; 19:47751560-47751560

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.282G>T; p.K94N; 19:47747024-47747024

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.568C>T; p.R190W; 19:47751077-47751077

 thyroidother; neoplasmSubstitution - Missense

c.1374G>A; p.K458K; 19:47756688-47756688

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.359T>G; p.L120R; 19:47750247-47750247

 stomachadenocarcinomaSubstitution - Missense

c.1300G>T; p.E434*; 19:47756531-47756531

 upper_aerodigestive_tract; mouthcarcinomaSubstitution - Nonsense

c.1300G>T; p.E434*; 19:47756531-47756531

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.729C>A; p.A243A; 19:47752571-47752571

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.1221G>A; p.G407G; 19:47755515-47755515

 thyroidother; neoplasmSubstitution - coding silent

c.1221G>A; p.G407G; 19:47755515-47755515

 thyroidother; neoplasmSubstitution - coding silent

c.1221G>A; p.G407G; 19:47755515-47755515

 livercarcinoma; hepatocellular_carcinomaSubstitution - coding silent

c.1221G>A; p.G407G; 19:47755515-47755515

 thyroidother; neoplasmSubstitution - coding silent

c.629A>C; p.D210A; 19:47751550-47751550

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.851C>G; p.T284R; 19:47754612-47754612

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.423C>T; p.N141N; 19:47750932-47750932

 pancreascarcinomaSubstitution - coding silent

c.229_231delTTG; p.L78delL; 19:47746971-47746973

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - In frame

c.547G>A; p.G183R; 19:47751056-47751056

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.143G>A; p.W48*; 19:47745702-47745702

 oesophaguscarcinomaSubstitution - Nonsense

c.985G>A; p.A329T; 19:47754823-47754823

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1321C>T; p.R441W; 19:47756552-47756552

 pancreascarcinomaSubstitution - Missense

c.1321C>T; p.R441W; 19:47756552-47756552

 pancreascarcinomaSubstitution - Missense

c.1109G>A; p.R370Q; 19:47755403-47755403

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1381C>T; p.R461C; 19:47756695-47756695

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.916G>A; p.D306N; 19:47754754-47754754

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.709G>A; p.A237T; 19:47752551-47752551

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1046A>G; p.H349R; 19:47754884-47754884

 breastcarcinomaSubstitution - Missense

c.288A>G; p.K96K; 19:47747030-47747030

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.377C>T; p.S126F; 19:47750265-47750265

 skinmalignant_melanomaSubstitution - Missense

c.745C>G; p.P249A; 19:47752587-47752587

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.966C>T; p.A322A; 19:47754804-47754804

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.789G>A; p.E263E; 19:47754550-47754550

 thyroidother; neoplasmSubstitution - coding silent

c.1166A>G; p.Q389R; 19:47755460-47755460

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1166A>G; p.Q389R; 19:47755460-47755460

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1166A>G; p.Q389R; 19:47755460-47755460

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1166A>G; p.Q389R; 19:47755460-47755460

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1166A>G; p.Q389R; 19:47755460-47755460

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1166A>G; p.Q389R; 19:47755460-47755460

 thyroidother; neoplasmSubstitution - Missense

c.1166A>G; p.Q389R; 19:47755460-47755460

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1166A>G; p.Q389R; 19:47755460-47755460

 thyroidother; neoplasmSubstitution - Missense

c.1166A>G; p.Q389R; 19:47755460-47755460

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1166A>G; p.Q389R; 19:47755460-47755460

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.289G>A; p.G97R; 19:47747031-47747031

 skinmalignant_melanomaSubstitution - Missense

c.423C>A; p.N141K; 19:47750932-47750932

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.487C>T; p.R163W; 19:47750996-47750996

 livercarcinomaSubstitution - Missense

c.82A>G; p.T28A; 19:47745641-47745641

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.487C>T; p.R163W; 19:47750996-47750996

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.265G>A; p.V89M; 19:47747007-47747007

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1070C>T; p.A357V; 19:47755364-47755364

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.41C>T; p.S14L; 19:47745600-47745600

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.369G>T; p.E123D; 19:47750257-47750257

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.613C>T; p.P205S; 19:47751534-47751534

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1360C>T; p.R454*; 19:47756591-47756591

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Nonsense

c.1360C>T; p.R454*; 19:47756591-47756591

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Nonsense

c.712G>A; p.V238M; 19:47752554-47752554

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1171C>T; p.R391W; 19:47755465-47755465

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1315C>T; p.R439*; 19:47756546-47756546

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.47G>C; p.S16T; 19:47745606-47745606

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.3G>T; p.M1I; 19:47745562-47745562

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.358C>T; p.L120F; 19:47750246-47750246

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.488G>C; p.R163P; 19:47750997-47750997

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.488G>C; p.R163P; 19:47750997-47750997

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.1374-1G>A; p.?; 19:47756687-47756687

 large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.349C>T; p.R117W; 19:47750237-47750237

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.349C>T; p.R117W; 19:47750237-47750237

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.722C>T; p.A241V; 19:47752564-47752564

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.327A>G; p.S109S; 19:47750215-47750215

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.29G>T; p.G10V; 19:47745588-47745588

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.18T>C; p.S6S; 19:47745577-47745577

 thyroidother; neoplasmSubstitution - coding silent

c.23T>G; p.V8G; 19:47745582-47745582

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.399-7C>T; p.?; 19:47750901-47750901

 pancreascarcinomaUnknown

c.696G>A; p.P232P; 19:47752538-47752538

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

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