(Q17917694)

English

EXT1

protein-coding gene in the species Homo sapiens

EXT
LGCR
LGS
TRPS2
TTV
exostosin glycosyltransferase 1

In more languages

Statements

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000182197

protein-coding gene

1 reference

Ensembl Release 87

Ensembl gene ID

ENSG00000182197

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000182197

Exostosin glycosyltransferase 1

1 reference

6 July 2017

UniProt protein ID

genetic association

determination method

genome-wide association study

1 reference

https://gemma.msl.ubc.ca/phenotypes.html?phenotypeUrlId=DOID_9970&ncbiId=2131

http://www.genome.gov/gwastudies/index.cfm?gene=EXT1

Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population

25 May 2020

trichorhinophalangeal syndrome type II

1 reference

UniProt protein ID

13 August 2019

2 references

UniProt protein ID

13 August 2019

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000182197/EFO_0000333

based on heuristic

inferred from an Open Targets association score over 0.7

exostoses, multiple, type 1

3 references

8 December 2020

https://search.clinicalgenome.org/kb/gene-validity/0ced1387-c0a8-4f03-bd70-1595cb7683fd--2018-06-04T19:20:29

25 January 2022

https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0ced1387-c0a8-4f03-bd70-1595cb7683fd-2018-06-04T192029.946Z

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000182197/MONDO_0007585

based on heuristic

inferred from an Open Targets association score over 0.7

human chromosome 8

genomic assembly

genome assembly GRCh38

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000182197

strand orientation

genomic assembly

genome assembly GRCh38

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000182197

117794490

human chromosome 8

genomic assembly

genome assembly GRCh38

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000182197

118806729

human chromosome 8

genomic assembly

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000182197

119124092

human chromosome 8

genomic assembly

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000182197

118111826

human chromosome 8

genomic assembly

genome assembly GRCh38

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000182197

cytogenetic location

8q24.11

1 reference

15 May 2022

30957

1 reference

15 May 2022

Gene Atlas image

PBB GE EXT1 201995 at fs.png
732 × 530; 11 KB

0 references

PBB GE EXT1 214985 at fs.png
732 × 530; 12 KB

0 references

2 references

HomoloGene build68

30957

Orthologous MAtrix

https://omabrowser.org/oma/vps/Q16394/

1 reference

HomoloGene build68

30957

Drosophila melanogaster

2 references

HomoloGene build68

30957

Orthologous MAtrix

https://omabrowser.org/oma/vps/Q16394/

2 references

HomoloGene build68

30957

Orthologous MAtrix

https://omabrowser.org/oma/vps/Q16394/

Caenorhabditis elegans

1 reference

HomoloGene build68

30957

stromal cell of endometrium

1

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000182197

2

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000182197

Descending thoracic aorta

3

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000182197

ascending aorta

4

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000182197

right coronary artery

5

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000182197

6

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000182197

ventricular zone

7

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000182197

popliteal artery

8

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000182197

tibial arteries

9

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000182197

10

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000182197

http://identifiers.org/ncbigene/2131

1 reference

Identifiers.org

http://www.ebi.ac.uk/miriam/main/collections/MIR:00000069

Identifiers

1 reference

15 May 2022

1 reference

15 May 2022

Ensembl gene ID

ENSG00000182197

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000182197

Ensembl transcript ID

ENST00000437196

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000182197

ENST00000378204

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000182197

ENST00000436216

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000182197

ENST00000684443

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000182197

ENST00000684189

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000182197

0 references

HGNC gene symbol

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

Online Mendelian Inheritance in Man

19 August 2019

1 reference

based on heuristic

inferred by common HGNC mappings on source and on Wikidata

13 June 2023

Sitelinks

Wikipedia(6 entries)

arwiki EXT1
arzwiki EXT1
bswiki EXT1
enwiki EXT1
ttwiki EXT1
ukwiki EXT1

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

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