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

Basic Information

Gene ID

2134

Name

EXTL1

Synonymous

exostosin-like glycosyltransferase 1;EXTL1;exostosin-like glycosyltransferase 1

Definition

alpha-N-acetylglucosaminyltransferase II|exostoses (multiple)-like 1|exostosin-L|exostosin-like 1|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucos

Position

1p36.1

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 0.04.

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.801G>A; p.L267L; 1:26029214-26029214

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1186A>G; p.T396A; 1:26031216-26031216

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1741G>A; p.A581T; 1:26034897-26034897

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.384T>C; p.P128P; 1:26023030-26023030

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.827C>T; p.S276F; 1:26029240-26029240

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.827C>T; p.S276F; 1:26029240-26029240

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.1558C>T; p.R520W; 1:26033735-26033735

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1325_1326CC>TT; p.S442F; 1:26031550-26031551

 skinmalignant_melanomaSubstitution - Missense

c.1394C>T; p.T465I; 1:26032448-26032448

 kidneyother; neoplasmSubstitution - Missense

c.1924T>C; p.F642L; 1:26035240-26035240

 central_nervous_system; braingliomaSubstitution - Missense

c.516C>A; p.T172T; 1:26023162-26023162

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.298G>A; p.V100M; 1:26022944-26022944

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.297C>T; p.F99F; 1:26022943-26022943

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.532G>A; p.A178T; 1:26023178-26023178

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.1223A>G; p.Y408C; 1:26031253-26031253

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1168G>A; p.A390T; 1:26031198-26031198

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1578G>A; p.T526T; 1:26033755-26033755

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.751C>T; p.R251C; 1:26023397-26023397

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.284G>A; p.G95D; 1:26022930-26022930

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1390G>A; p.E464K; 1:26032444-26032444

 skinmalignant_melanomaSubstitution - Missense

c.1840G>T; p.A614S; 1:26034996-26034996

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1244C>A; p.P415H; 1:26031469-26031469

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.579C>A; p.G193G; 1:26023225-26023225

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.857T>A; p.F286Y; 1:26029270-26029270

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1857G>T; p.G619G; 1:26035173-26035173

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.1325C>T; p.S442F; 1:26031550-26031550

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1871G>A; p.R624K; 1:26035187-26035187

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.814T>A; p.F272I; 1:26029227-26029227

 central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaSubstitution - Missense

c.44C>T; p.S15L; 1:26022690-26022690

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1675C>G; p.H559D; 1:26033852-26033852

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.256T>G; p.F86V; 1:26022902-26022902

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.92G>A; p.R31H; 1:26022738-26022738

 central_nervous_system; braingliomaSubstitution - Missense

c.570C>T; p.F190F; 1:26023216-26023216

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1918G>A; p.A640T; 1:26035234-26035234

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1638C>T; p.N546N; 1:26033815-26033815

 central_nervous_system; braingliomaSubstitution - coding silent

c.1786G>A; p.V596I; 1:26034942-26034942

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.640C>A; p.Q214K; 1:26023286-26023286

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.626G>A; p.G209D; 1:26023272-26023272

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.108C>T; p.P36P; 1:26022754-26022754

 thyroidother; neoplasmSubstitution - coding silent

c.572G>C; p.R191P; 1:26023218-26023218

 skinmalignant_melanomaSubstitution - Missense

c.1203C>T; p.P401P; 1:26031233-26031233

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.1118T>G; p.I373S; 1:26031148-26031148

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1496G>A; p.R499H; 1:26033293-26033293

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.402C>T; p.L134L; 1:26023048-26023048

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.646C>T; p.R216W; 1:26023292-26023292

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.618G>A; p.P206P; 1:26023264-26023264

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.646C>T; p.R216W; 1:26023292-26023292

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1261G>A; p.A421T; 1:26031486-26031486

 pancreascarcinomaSubstitution - Missense

c.1622C>T; p.T541I; 1:26033799-26033799

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1013C>A; p.A338E; 1:26030507-26030507

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.981G>T; p.Q327H; 1:26029707-26029707

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.447G>A; p.M149I; 1:26023093-26023093

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.622C>T; p.R208*; 1:26023268-26023268

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.622C>T; p.R208*; 1:26023268-26023268

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1031G>A; p.R344H; 1:26030525-26030525

 livercarcinomaSubstitution - Missense

c.1031G>A; p.R344H; 1:26030525-26030525

 livercarcinomaSubstitution - Missense

c.1596C>T; p.D532D; 1:26033773-26033773

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.135C>T; p.G45G; 1:26022781-26022781

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.667G>A; p.G223R; 1:26023313-26023313

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.279C>T; p.G93G; 1:26022925-26022925

 central_nervous_system; braingliomaSubstitution - coding silent

c.1351C>A; p.L451I; 1:26032405-26032405

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.496C>T; p.P166S; 1:26023142-26023142

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.496C>T; p.P166S; 1:26023142-26023142

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.1819G>T; p.G607C; 1:26034975-26034975

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1819G>T; p.G607C; 1:26034975-26034975

 large_intestine; coloncarcinomaSubstitution - Missense

c.788G>A; p.R263H; 1:26029201-26029201

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1146G>A; p.L382L; 1:26031176-26031176

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.65T>C; p.V22A; 1:26022711-26022711

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1146G>A; p.L382L; 1:26031176-26031176

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1146G>A; p.L382L; 1:26031176-26031176

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.1146G>A; p.L382L; 1:26031176-26031176

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.666C>T; p.P222P; 1:26023312-26023312

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1530C>T; p.A510A; 1:26033707-26033707

 skinmalignant_melanomaSubstitution - coding silent

c.1663G>A; p.A555T; 1:26033840-26033840

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1666G>A; p.A556T; 1:26033843-26033843

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1158delC; p.P388fs*35; 1:26031188-26031188

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.1441C>T; p.R481C; 1:26033238-26033238

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1451C>A; p.P484Q; 1:26033248-26033248

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.458_459GG>AA; p.W153*; 1:26023104-26023105

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.1165G>T; p.G389W; 1:26031195-26031195

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1165G>T; p.G389W; 1:26031195-26031195

 large_intestine; coloncarcinomaSubstitution - Missense

c.1165G>T; p.G389W; 1:26031195-26031195

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.88C>T; p.L30F; 1:26022734-26022734

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.675C>T; p.A225A; 1:26023321-26023321

 livercarcinomaSubstitution - coding silent

c.479T>C; p.L160P; 1:26023125-26023125

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.675C>T; p.A225A; 1:26023321-26023321

 livercarcinomaSubstitution - coding silent

c.923C>T; p.S308F; 1:26029649-26029649

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.923C>T; p.S308F; 1:26029649-26029649

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1489G>A; p.D497N; 1:26033286-26033286

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.852G>A; p.S284S; 1:26029265-26029265

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1548C>A; p.S516R; 1:26033725-26033725

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1548C>A; p.S516R; 1:26033725-26033725

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.815T>C; p.F272S; 1:26029228-26029228

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1166G>A; p.G389E; 1:26031196-26031196

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.819C>T; p.C273C; 1:26029232-26029232

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.571C>T; p.R191W; 1:26023217-26023217

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.571C>T; p.R191W; 1:26023217-26023217

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.90C>T; p.L30L; 1:26022736-26022736

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1073T>C; p.V358A; 1:26030567-26030567

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.709C>T; p.R237C; 1:26023355-26023355

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.851C>T; p.S284L; 1:26029264-26029264

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1191T>A; p.F397L; 1:26031221-26031221

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.656G>A; p.S219N; 1:26023302-26023302

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.656G>A; p.S219N; 1:26023302-26023302

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1680-1G>T; p.?; 1:26034835-26034835

 stomachcarcinoma; adenocarcinomaUnknown

c.1295C>A; p.P432H; 1:26031520-26031520

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_leukaemiaSubstitution - Missense

c.787C>T; p.R263C; 1:26029200-26029200

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1114C>A; p.R372R; 1:26031144-26031144

 lungcarcinoma; small_cell_carcinomaSubstitution - coding silent

c.268A>G; p.K90E; 1:26022914-26022914

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1632G>A; p.R544R; 1:26033809-26033809

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1577C>T; p.T526M; 1:26033754-26033754

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1577C>T; p.T526M; 1:26033754-26033754

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1577C>T; p.T526M; 1:26033754-26033754

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1116G>C; p.R372R; 1:26031146-26031146

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1667C>G; p.A556G; 1:26033844-26033844

 autonomic_ganglianeuroblastomaSubstitution - Missense

c.1939T>C; p.L647L; 1:26035255-26035255

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1520T>C; p.V507A; 1:26033697-26033697

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.25T>G; p.S9A; 1:26022671-26022671

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.642G>T; p.Q214H; 1:26023288-26023288

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1016G>T; p.R339L; 1:26030510-26030510

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1111G>T; p.D371Y; 1:26031141-26031141

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1488C>T; p.L496L; 1:26033285-26033285

 biliary_tract; gallbladdercarcinoma; adenocarcinomaSubstitution - coding silent

c.2031delG; p.*677fs?; 1:26035347-26035347

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.524T>A; p.L175Q; 1:26023170-26023170

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1856G>A; p.G619E; 1:26035172-26035172

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1519-6C>A; p.?; 1:26033690-26033690

 pancreascarcinomaUnknown

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