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

Basic Information

Gene ID

2135

Name

EXTL2

Synonymous

exostosin-like glycosyltransferase 2;EXTL2;exostosin-like glycosyltransferase 2

Definition

EXT-related protein 2|alpha-1,4-N-acetylhexosaminyltransferase EXTL2|alpha-GalNAcT EXTL2|exostoses (multiple)-like 2|exostosin-like 2|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase|processed exostosin-like 2

Position

1p21

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

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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

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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

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Loss of Function mutations compare to missense mutation.
The ratio of the loss-of-function mutations over missense mutations is 0.16.

The copy number variations for various cancers

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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.983G>C; p.R328T; 1:100873952-100873952

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.49C>T; p.R17*; 1:100877860-100877860

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.49C>T; p.R17*; 1:100877860-100877860

 breastcarcinomaSubstitution - Nonsense

c.293T>C; p.V98A; 1:100877616-100877616

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.418G>A; p.E140K; 1:100877491-100877491

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.486delT; p.F162fs*14; 1:100876812-100876812

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.42G>T; p.M14I; 1:100877867-100877867

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.604T>A; p.S202T; 1:100874331-100874331

 haematopoietic_and_lymphoid_tissue; spleenlymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.940A>G; p.I314V; 1:100873995-100873995

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.852G>A; p.W284*; 1:100874083-100874083

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Nonsense

c.160G>A; p.E54K; 1:100877749-100877749

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.224G>C; p.R75T; 1:100877685-100877685

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.628A>G; p.M210V; 1:100874307-100874307

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.518A>G; p.Q173R; 1:100874417-100874417

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.899T>G; p.L300R; 1:100874036-100874036

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.953A>T; p.Q318L; 1:100873982-100873982

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.683G>A; p.R228K; 1:100874252-100874252

 livercarcinomaSubstitution - Missense

c.359C>A; p.P120H; 1:100877550-100877550

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.389G>T; p.R130M; 1:100877520-100877520

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.936C>T; p.S312S; 1:100873999-100873999

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.638T>A; p.I213N; 1:100874297-100874297

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.202C>G; p.L68V; 1:100877707-100877707

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.389G>A; p.R130K; 1:100877520-100877520

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.855T>C; p.H285H; 1:100874080-100874080

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.573T>C; p.S191S; 1:100874362-100874362

 skinmalignant_melanomaSubstitution - coding silent

c.428C>T; p.T143I; 1:100877481-100877481

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.887G>T; p.C296F; 1:100874048-100874048

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.415C>T; p.P139S; 1:100877494-100877494

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.989T>A; p.I330K; 1:100873946-100873946

 skin; upper_armmalignant_melanomaSubstitution - Missense

c.605C>T; p.S202F; 1:100874330-100874330

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.88T>G; p.L30V; 1:100877821-100877821

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.186C>A; p.T62T; 1:100877723-100877723

 livercarcinomaSubstitution - coding silent

c.108G>A; p.L36L; 1:100877801-100877801

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - coding silent

c.108G>A; p.L36L; 1:100877801-100877801

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.991T>A; p.*331K; 1:100873944-100873944

 kidneycarcinoma; clear_cell_renal_cell_carcinomaNonstop extension

c.991T>A; p.*331K; 1:100873944-100873944

 kidneycarcinoma; clear_cell_renal_cell_carcinomaNonstop extension

c.991T>A; p.*331K; 1:100873944-100873944

 kidneycarcinoma; clear_cell_renal_cell_carcinomaNonstop extension

c.991T>A; p.*331K; 1:100873944-100873944

 kidneycarcinoma; clear_cell_renal_cell_carcinomaNonstop extension

c.192C>G; p.D64E; 1:100877717-100877717

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.714T>C; p.D238D; 1:100874221-100874221

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.58C>T; p.R20*; 1:100877851-100877851

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.753C>A; p.I251I; 1:100874182-100874182

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.350A>G; p.H117R; 1:100877559-100877559

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.818A>G; p.E273G; 1:100874117-100874117

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.232C>A; p.L78I; 1:100877677-100877677

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.945G>A; p.M315I; 1:100873990-100873990

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.876G>T; p.Q292H; 1:100874059-100874059

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.12C>G; p.C4W; 1:100877897-100877897

 oesophaguscarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.229G>T; p.D77Y; 1:100877680-100877680

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.82G>A; p.V28I; 1:100877827-100877827

 livercarcinomaSubstitution - Missense

c.82G>A; p.V28I; 1:100877827-100877827

 livercarcinomaSubstitution - Missense

c.749T>G; p.F250C; 1:100874186-100874186

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.749T>G; p.F250C; 1:100874186-100874186

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

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