Identity
HGNC
LOCATION
17q21.2
LOCUSID
ALIAS
DPCK,NBIA6,NBP,PCH12,PPAT,UKR1,pOV-2
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 80347
MIM: 609855
HGNC: 29932
Ensembl: ENSG00000068120
Variants:
dbSNP: 80347
ClinVar: 80347
TCGA: ENSG00000068120
COSMIC: COASY
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38750253 | 2024 | Emerging variants, unique phenotypes, and transcriptomic signatures: an integrated study of COASY-associated diseases. | 0 |
| 38750253 | 2024 | Emerging variants, unique phenotypes, and transcriptomic signatures: an integrated study of COASY-associated diseases. | 0 |
| 36495139 | 2023 | Progressive brain atrophy and severe neurodevelopmental phenotype in siblings with biallelic COASY variants. | 2 |
| 36495139 | 2023 | Progressive brain atrophy and severe neurodevelopmental phenotype in siblings with biallelic COASY variants. | 2 |
| 35499143 | 2022 | COASY related pontocerebellar hypoplasia type 12: A common Indian mutation with expansion of the phenotypic spectrum. | 2 |
| 35499143 | 2022 | COASY related pontocerebellar hypoplasia type 12: A common Indian mutation with expansion of the phenotypic spectrum. | 2 |
| 31704889 | 2020 | CoA Synthase (COASY) Mediates Radiation Resistance via PI3K Signaling in Rectal Cancer. | 24 |
| 32828275 | 2020 | CoAsy knockdown in TNBC cell lines resulted in no overt effect on cell proliferation in vitro. | 4 |
| 31704889 | 2020 | CoA Synthase (COASY) Mediates Radiation Resistance via PI3K Signaling in Rectal Cancer. | 24 |
| 32828275 | 2020 | CoAsy knockdown in TNBC cell lines resulted in no overt effect on cell proliferation in vitro. | 4 |
| 29531224 | 2018 | CoA synthase regulates mitotic fidelity via CBP-mediated acetylation. | 23 |
| 30143804 | 2018 | Analysis of VUS reporting, variant reinterpretation and recontact policies in clinical genomic sequencing consent forms. | 33 |
| 29531224 | 2018 | CoA synthase regulates mitotic fidelity via CBP-mediated acetylation. | 23 |
| 30143804 | 2018 | Analysis of VUS reporting, variant reinterpretation and recontact policies in clinical genomic sequencing consent forms. | 33 |
| 27021474 | 2016 | Mutational analysis of COASY in an Italian patient with NBIA. | 13 |
Citation
Dessen P
COASY (Coenzyme A synthase)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/61974/coasy-(coenzyme-a-synthase)
