ADPRHL1

Chr 13

ADP-ribosylhydrolase like 1

Also known as: ARH2

ADP-ribosylation is a reversible posttranslational modification used to regulate protein function. ADP-ribosyltransferases (see ART1; MIM 601625) transfer ADP-ribose from NAD+ to the target protein, and ADP-ribosylhydrolases, such as ADPRHL1, reverse the reaction (Glowacki et al., 2002 [PubMed 12070318]).[supplied by OMIM, Mar 2008]

0
Active trials
1
Pubs (1 yr)
0
P/LP submissions
P/LP missense
1.37
LOEUF
Mechanism
Clinical SummaryADPRHL1
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint
1.37LOEUF
pLI 0.000
Z-score 0.33
OE 0.92 (0.631.37)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
0.34Z-score
OE missense 0.94 (0.841.05)
213 obs / 227.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.92 (0.631.37)
00.351.4
Missense OE0.94 (0.841.05)
00.61.4
Synonymous OE0.93
01.21.6
LoF obs/exp: 17 / 18.5Missense obs/exp: 213 / 227.4Syn Z: 0.56

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

ADPRHL1 · 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

No active trials found for this gene.

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Clinical Literature
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Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC