CPS1 (Q425485)

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protein-coding gene in the species Homo sapiens

PHN
carbamoyl-phosphate synthase 1
CPSASE1
GATD6

Language	Label	Description	Also known as
English	CPS1	protein-coding gene in the species Homo sapiens	PHN carbamoyl-phosphate synthase 1 CPSASE1 GATD6

Statements

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000021826

protein-coding gene

1 reference

Ensembl Release 87

Ensembl gene ID

ENSG00000021826

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000021826

Carbamoyl-phosphate synthase 1

1 reference

6 July 2017

UniProt protein ID

genetic association

determination method or standard

genome-wide association study

1 reference

https://gemma.msl.ubc.ca/phenotypes.html?phenotypeUrlId=DOID_557&ncbiId=1373

http://www.genome.gov/gwastudies/index.cfm?gene=CPS1

New loci associated with kidney function and chronic kidney disease

25 May 2020

carbamoyl phosphate synthetase I deficiency disease

5 references

UniProt protein ID

13 August 2019

4 May 2020

https://search.clinicalgenome.org/kb/gene-validity/dbc4dbbe-8827-4d68-a396-8368f3801e78--2018-10-12T18:14:32

8 December 2020

https://search.clinicalgenome.org/kb/gene-validity/dbc4dbbe-8827-4d68-a396-8368f3801e78--2018-10-12T16:00:00

25 January 2022

https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_dbc4dbbe-8827-4d68-a396-8368f3801e78-2018-10-12T160000.000Z

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000021826/EFO_0007193

based on heuristic

inferred from an Open Targets association score over 0.7

human chromosome 2

genomic assembly

genome assembly GRCh38

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000021826

strand orientation

genomic assembly

genome assembly GRCh38

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000021826

210477682

human chromosome 2

genomic assembly

genome assembly GRCh38

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000021826

211342406

human chromosome 2

genomic assembly

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000021826

210679107

human chromosome 2

genomic assembly

genome assembly GRCh38

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000021826

211543831

human chromosome 2

genomic assembly

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000021826

cytogenetic location

2q34

1 reference

15 May 2022

68208

1 reference

15 May 2022

2 references

HomoloGene build68

68208

Orthologous MAtrix

https://omabrowser.org/oma/vps/P31327/

2 references

HomoloGene build68

68208

Orthologous MAtrix

https://omabrowser.org/oma/vps/P31327/

1 reference

HomoloGene build68

68208

1

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000021826

right lobe of liver

2

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000021826

3

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000021826

4

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000021826

buccal mucosa cell

5

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000021826

mucosa of ileum

6

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000021826

secondary oocyte

7

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000021826

internal globus pallidus

8

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000021826

9

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000021826

10

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000021826

http://identifiers.org/ncbigene/1373

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

Ensembl gene ID

ENSG00000021826

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000021826

Ensembl transcript ID

ENST00000233072

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000021826

ENST00000430249

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000021826

ENST00000451903

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000021826

ENST00000467353

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000021826

ENST00000470791

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000021826

ENST00000479988

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000021826

ENST00000497121

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000021826

ENST00000497163

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000021826

ENST00000645825

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000021826

ENST00000673510

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000021826

ENST00000671984

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000021826

ENST00000673630

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000021826

ENST00000674074

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000021826

ENST00000673711

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000021826

ENST00000673698

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000021826

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

15 June 2023

Sitelinks

Wikipedia(0 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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