COASY

Chr 17AR

Coenzyme A synthase

ENSG00000068120UniProt: Q13057OMIM: 609855

Bifunctional enzyme that catalyzes the fourth step of the coenzyme A biosynthetic pathway, the adenylation of 4'-phosphopantetheine, and the fifth step, the phosphorylation of dephospho-CoA to CoA

OMIMResearchGenerating clinical summary…
LOFmechanismARLOEUF 1.032 OMIM phenotypes
Clinical Summary— COASY
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.03LOEUF
pLI 0.000
Z-score 1.44
OE 0.70 (0.48–1.03)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.11Z-score
OE missense 0.98 (0.90–1.07)
356 obs / 361.8 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.70 (0.48–1.03)
0≤0.351.4
Missense OE?0.98 (0.90–1.07)
0≤0.61.4
Synonymous OE?0.91
0≤1.21.6
LoF obs/exp: 18 / 25.9Missense obs/exp: 356 / 361.8Syn Z: 0.87

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

COASY · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients