CHAT (Q14863671)

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protein-coding gene in the species Homo sapiens

CHOACTASE
CMS1A
CMS1A2
CMS6
choline O-acetyltransferase

Language	Label	Description	Also known as
English	CHAT	protein-coding gene in the species Homo sapiens	CHOACTASE CMS1A CMS1A2 CMS6 choline O-acetyltransferase

Statements

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000070748

protein-coding gene

1 reference

Ensembl Release 87

Ensembl gene ID

ENSG00000070748

Protein CHAT PDB 2fy2.png
887 × 653; 451 KB

0 references

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000070748

choline O-acetyltransferase

1 reference

6 July 2017

UniProt protein ID

genetic association

congenital myasthenic syndrome 6

1 reference

UniProt protein ID

13 August 2019

congenital myasthenic syndrome

1 reference

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000070748/Orphanet_590

based on heuristic

inferred from an Open Targets association score over 0.7

presynaptic congenital myasthenic syndrome

1 reference

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000070748/Orphanet_98914

based on heuristic

inferred from an Open Targets association score over 0.7

human chromosome 10

genomic assembly

genome assembly GRCh38

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000070748

strand orientation

genomic assembly

genome assembly GRCh38

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000070748

49609095

human chromosome 10

genomic assembly

genome assembly GRCh38

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000070748

50817141

human chromosome 10

genomic assembly

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000070748

50901925

human chromosome 10

genomic assembly

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000070748

49667942

human chromosome 10

genomic assembly

genome assembly GRCh38

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000070748

cytogenetic location

10q11.23

1 reference

15 May 2022

40693

1 reference

15 May 2022

Gene Atlas image

PBB GE CHAT 221197 s at fs.png
732 × 530; 12 KB

0 references

1 reference

HomoloGene build68

40693

1 reference

HomoloGene build68

40693

1 reference

HomoloGene build68

40693

Drosophila melanogaster

1 reference

HomoloGene build68

40693

1

1 reference

19 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000070748

caudate nucleus

2

1 reference

19 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000070748

nucleus accumbens

3

1 reference

19 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000070748

4

1 reference

19 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000070748

small intestine

5

1 reference

19 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000070748

6

1 reference

19 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000070748

7

1 reference

19 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000070748

8

1 reference

19 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000070748

9

1 reference

19 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000070748

10

1 reference

19 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000070748

http://identifiers.org/ncbigene/1103

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

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

15 May 2022

Encyclopædia Britannica Online ID

science/choline-acetyltransferase

subject named as

choline acetyltransferase

0 references

Ensembl gene ID

ENSG00000070748

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000070748

Ensembl transcript ID

ENST00000490270

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000070748

ENST00000337653

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000070748

ENST00000339797

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000070748

ENST00000351556

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000070748

ENST00000395559

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000070748

ENST00000395562

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000070748

ENST00000460699

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000070748

ENST00000466590

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000070748

ENST00000481336

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000070748

ENST00000638282

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000070748

ENST00000638683

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000070748

ENST00000640822

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000070748

0 references

HGNC gene symbol

1 reference

15 May 2022

1 reference

15 May 2022

Microsoft Academic ID

0 references

1 reference

Online Mendelian Inheritance in Man

19 August 2019

1 reference

26 January 2022

https://docs.openalex.org/download-snapshot/snapshot-data-format

1 reference

based on heuristic

inferred by common HGNC mappings on source and on Wikidata

15 June 2023

Sitelinks

Wikipedia(16 entries)

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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