OARD1

Chr 6

O-acyl-ADP-ribose deacylase 1

Also known as: C6orf130, TARG1, dJ34B21.3

NCBI Gene: 221443ENSG00000124596UniProt: Q9Y530

The protein encoded by this gene is a deacylase that can convert O-acetyl-ADP-ribose to ADP-ribose and acetate, O-propionyl-ADP-ribose to ADP-ribose and propionate, and O-butyryl-ADP-ribose to ADP-ribose and butyrate. The ADP-ribose product is able to inhibit these reactions through a competitive feedback loop. [provided by RefSeq, Jul 2016]

ResearchGenerating clinical summary…
0
Active trials
2
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.34
LOEUF
DN
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.34LOEUF
pLI 0.001
Z-score 0.88
OE 0.68 (0.37–1.34)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.32Z-score
OE missense 0.90 (0.75–1.09)
75 obs / 83.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.68 (0.37–1.34)
0≤0.351.4
Missense OE?0.90 (0.75–1.09)
0≤0.61.4
Synonymous OE?1.24
0≤1.21.6
LoF obs/exp: 6 / 8.8Missense obs/exp: 75 / 83.3Syn Z: -1.01

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

OARD1 · 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.

Search ClinicalTrials.gov →

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