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

Basic Information

Gene ID

2132

Name

EXT2

Synonymous

exostosin glycosyltransferase 2;EXT2;exostosin glycosyltransferase 2

Definition

N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase|exostosin-2|glucuronosyl-N-acetylglucosaminyl-proteoglycan/N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase|multiple exostoses protein 2|putative tumor suppressor pr

Position

11p12-p11

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 0.06.

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.1407C>T; p.L469L; 11:44197930-44197930

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1789G>A; p.A597T; 11:44232479-44232479

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.420T>C; p.S140S; 11:44108132-44108132

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.90C>T; p.F30F; 11:44107802-44107802

 skinmalignant_melanomaSubstitution - coding silent

c.679G>A; p.D227N; 11:44114237-44114237

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.644G>T; p.G215V; 11:44114202-44114202

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1622T>A; p.I541N; 11:44206919-44206919

 breastcarcinomaSubstitution - Missense

c.1136G>A; p.S379N; 11:44130101-44130101

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1882G>C; p.D628H; 11:44234190-44234190

 central_nervous_system; braingliomaSubstitution - Missense

c.266C>T; p.T89M; 11:44107978-44107978

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.411C>T; p.I137I; 11:44108123-44108123

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1510A>C; p.K504Q; 11:44206807-44206807

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.450C>A; p.A150A; 11:44108162-44108162

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.175G>C; p.E59Q; 11:44107887-44107887

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1937T>C; p.V646A; 11:44236294-44236294

 oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1662+1G>T; p.?; 11:44206960-44206960

 lungcarcinoma; adenocarcinomaUnknown

c.1654_1655GG>TT; p.G552F; 11:44206951-44206952

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1587C>A; p.I529I; 11:44206884-44206884

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.393T>G; p.N131K; 11:44108105-44108105

 central_nervous_system; brainglioma; astrocytoma_Grade_IISubstitution - Missense

c.1491A>G; p.P497P; 11:44198014-44198014

 livercarcinomaSubstitution - coding silent

c.964C>T; p.R322C; 11:44126840-44126840

 skinmalignant_melanomaSubstitution - Missense

c.964C>T; p.R322C; 11:44126840-44126840

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.767C>T; p.S256L; 11:44124812-44124812

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.496C>T; p.R166C; 11:44108208-44108208

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1174-1G>A; p.?; 11:44171610-44171610

 skinmalignant_melanomaUnknown

c.2039T>C; p.F680S; 11:44244169-44244169

 skin; extremitymalignant_melanomaSubstitution - Missense

c.867C>A; p.L289L; 11:44124912-44124912

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.657G>C; p.T219T; 11:44114215-44114215

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.1671G>T; p.R557R; 11:44232361-44232361

 lungcarcinoma; small_cell_carcinomaSubstitution - coding silent

c.1946G>A; p.R649Q; 11:44236303-44236303

 breastcarcinomaSubstitution - Missense

c.1173G>A; p.Q391Q; 11:44130138-44130138

 livercarcinomaSubstitution - coding silent

c.1173G>A; p.Q391Q; 11:44130138-44130138

 livercarcinomaSubstitution - coding silent

c.1362A>G; p.Q454Q; 11:44197885-44197885

 livercarcinomaSubstitution - coding silent

c.1889C>T; p.A630V; 11:44234197-44234197

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1117G>A; p.V373M; 11:44130082-44130082

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.924C>G; p.Y308*; 11:44124969-44124969

 urinary_tract; bladdercarcinomaSubstitution - Nonsense

c.1448C>T; p.S483F; 11:44197971-44197971

 skinmalignant_melanomaSubstitution - Missense

c.563T>G; p.L188W; 11:44109220-44109220

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1412G>A; p.R471Q; 11:44197935-44197935

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.748C>T; p.R250W; 11:44124793-44124793

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.358G>T; p.V120F; 11:44108070-44108070

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.336A>G; p.K112K; 11:44108048-44108048

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.406G>T; p.A136S; 11:44108118-44108118

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.428A>G; p.Y143C; 11:44108140-44108140

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1285T>C; p.W429R; 11:44171722-44171722

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.158C>T; p.S53L; 11:44107870-44107870

 breastcarcinomaSubstitution - Missense

c.1727A>T; p.E576V; 11:44232417-44232417

 prostatecarcinomaSubstitution - Missense

c.267G>A; p.T89T; 11:44107979-44107979

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.67C>T; p.R23*; 11:44107779-44107779

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Nonsense

c.405G>A; p.M135I; 11:44108117-44108117

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1715T>A; p.L572H; 11:44232405-44232405

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.552G>A; p.T184T; 11:44109209-44109209

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.497G>A; p.R166H; 11:44108209-44108209

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1760C>T; p.T587M; 11:44232450-44232450

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1096C>G; p.P366A; 11:44130061-44130061

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1070A>G; p.D357G; 11:44126946-44126946

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.1573C>T; p.P525S; 11:44206870-44206870

 skinmalignant_melanomaSubstitution - Missense

c.698A>G; p.Y233C; 11:44114256-44114256

 biliary_tract; gallbladdercarcinoma; adenocarcinomaSubstitution - Missense

c.645C>T; p.G215G; 11:44114203-44114203

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.11C>T; p.S4L; 11:44107723-44107723

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1323C>T; p.S441S; 11:44197846-44197846

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.979G>A; p.G327S; 11:44126855-44126855

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.581G>A; p.G194E; 11:44109238-44109238

 skinmalignant_melanomaSubstitution - Missense

c.627G>A; p.R209R; 11:44114185-44114185

 thyroidcarcinomaSubstitution - coding silent

c.257G>C; p.R86T; 11:44107969-44107969

 breastcarcinoma; ER-PR-positive_carcinomaSubstitution - Missense

c.2132G>T; p.S711I; 11:44244262-44244262

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.926C>A; p.P309Q; 11:44124971-44124971

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.1000G>A; p.V334M; 11:44126876-44126876

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.880C>T; p.L294F; 11:44124925-44124925

 skin; mucosalmalignant_melanomaSubstitution - Missense

c.2113T>G; p.F705V; 11:44244243-44244243

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.902A>G; p.H301R; 11:44124947-44124947

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.274G>T; p.D92Y; 11:44107986-44107986

 skin; scalpcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.363T>C; p.S121S; 11:44108075-44108075

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.587C>T; p.P196L; 11:44109244-44109244

 skinmalignant_melanomaSubstitution - Missense

c.1020C>T; p.V340V; 11:44126896-44126896

 skinmalignant_melanomaSubstitution - coding silent

c.803A>G; p.D268G; 11:44124848-44124848

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.971C>A; p.A324D; 11:44126847-44126847

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.504G>T; p.K168N; 11:44108216-44108216

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1923A>C; p.K641N; 11:44234231-44234231

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.544C>T; p.R182*; 11:44109201-44109201

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.544C>T; p.R182*; 11:44109201-44109201

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.556C>T; p.H186Y; 11:44109213-44109213

 skinmalignant_melanomaSubstitution - Missense

c.1877G>T; p.C626F; 11:44234185-44234185

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.77A>G; p.Y26C; 11:44107789-44107789

 endometriumcarcinoma; serous_carcinomaSubstitution - Missense

c.1550A>G; p.N517S; 11:44206847-44206847

 skin; facecarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1327C>T; p.P443S; 11:44197850-44197850

 breastcarcinomaSubstitution - Missense

c.1935+2T>C; p.?; 11:44234245-44234245

 large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.660G>T; p.W220C; 11:44114218-44114218

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1641C>A; p.D547E; 11:44206938-44206938

 breastcarcinomaSubstitution - Missense

c.1777G>T; p.V593L; 11:44232467-44232467

 livercarcinomaSubstitution - Missense

c.1777G>T; p.V593L; 11:44232467-44232467

 livercarcinomaSubstitution - Missense

c.642T>G; p.G214G; 11:44114200-44114200

 breastcarcinomaSubstitution - coding silent

c.1501C>T; p.L501F; 11:44206798-44206798

 breastcarcinomaSubstitution - Missense

c.50G>T; p.R17I; 11:44107762-44107762

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1550A>T; p.N517I; 11:44206847-44206847

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.2083C>T; p.R695*; 11:44244213-44244213

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Nonsense

c.2036A>C; p.K679T; 11:44244166-44244166

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.817C>T; p.Q273*; 11:44124862-44124862

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.46C>T; p.P16S; 11:44107758-44107758

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1949A>C; p.K650T; 11:44236306-44236306

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.536+1G>C; p.?; 11:44108249-44108249

 breastcarcinoma; ER-PR-positive_carcinomaUnknown

c.1679C>T; p.P560L; 11:44232369-44232369

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1038C>G; p.D346E; 11:44126914-44126914

 oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1684C>T; p.R562W; 11:44232374-44232374

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.900C>T; p.C300C; 11:44124945-44124945

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1022C>T; p.P341L; 11:44126898-44126898

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.588C>T; p.P196P; 11:44109245-44109245

 skinmalignant_melanomaSubstitution - coding silent

c.1670G>A; p.R557Q; 11:44232360-44232360

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.879C>T; p.V293V; 11:44124924-44124924

 skinmalignant_melanomaSubstitution - coding silent

c.1917G>A; p.T639T; 11:44234225-44234225

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.50G>A; p.R17K; 11:44107762-44107762

 pancreascarcinomaSubstitution - Missense

c.1819C>T; p.L607L; 11:44234127-44234127

 skinmalignant_melanomaSubstitution - coding silent

c.1040C>T; p.S347F; 11:44126916-44126916

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1250G>A; p.R417Q; 11:44171687-44171687

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.1250G>A; p.R417Q; 11:44171687-44171687

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.1728G>C; p.E576D; 11:44232418-44232418

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.349G>C; p.D117H; 11:44108061-44108061

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.27C>T; p.I9I; 11:44107739-44107739

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.27C>T; p.I9I; 11:44107739-44107739

 skin; abdomenmalignant_melanomaSubstitution - coding silent

c.1987C>A; p.L663I; 11:44236344-44236344

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.151G>T; p.E51*; 11:44107863-44107863

 urinary_tract; bladdercarcinomaSubstitution - Nonsense

c.1310G>T; p.W437L; 11:44197833-44197833

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.1341G>A; p.P447P; 11:44197864-44197864

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.273T>G; p.F91L; 11:44107985-44107985

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.390T>C; p.Y130Y; 11:44108102-44108102

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.893A>T; p.K298M; 11:44124938-44124938

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.623A>C; p.D208A; 11:44109280-44109280

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.545G>A; p.R182Q; 11:44109202-44109202

 breastcarcinomaSubstitution - Missense

c.1452A>G; p.K484K; 11:44197975-44197975

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1344G>C; p.L448L; 11:44197867-44197867

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1475A>T; p.Q492L; 11:44197998-44197998

 upper_aerodigestive_tract; larynxcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.283C>T; p.R95C; 11:44107995-44107995

 skin; trunkmalignant_melanomaSubstitution - Missense

c.1917G>T; p.T639T; 11:44234225-44234225

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.79A>T; p.I27F; 11:44107791-44107791

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.283C>T; p.R95C; 11:44107995-44107995

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

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