PARP10

Chr 8

poly(ADP-ribose) polymerase family member 10

Also known as: ARTD10

NCBI Gene: 84875ENSG00000178685UniProt: Q53GL7

PARP10 encodes an ADP-ribosyltransferase that catalyzes mono-ADP-ribosylation of target proteins, regulates GSK3B kinase activity, and participates in DNA damage response through interaction with PCNA. The gene shows relatively low constraint to loss-of-function variation (LOEUF 0.74), but no confirmed Mendelian diseases have been associated with PARP10 mutations to date.

Summary from RefSeq, UniProt
Research Assistant →
0
Active trials
9
Pubs (1 yr)
64
P/LP submissions
0%
P/LP missense
0.74
LOEUF
Multiple*
Mechanism· predicted
Clinical Summary— PARP10
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
63 unique Pathogenic / Likely Pathogenic· 222 VUS of 352 total submissions
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
0.74LOEUF
pLI 0.000
Z-score 2.82
OE 0.50 (0.35–0.74)
Tolerant

Typical tolerance to LoF variation

Missense Constraint
1.55Z-score
OE missense 0.83 (0.77–0.89)
532 obs / 642.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.50 (0.35–0.74)
0≤0.351.4
Missense OE0.83 (0.77–0.89)
0≤0.61.4
Synonymous OE0.91
0≤1.21.6
LoF obs/exp: 19 / 37.7Missense obs/exp: 532 / 642.6Syn Z: 1.19
DN
0.6358th %ile
GOF
0.72top 25%
LOF
0.2483th %ile

This gene has evidence for multiple mechanisms of pathogenicity (gain-of-function and dominant-negative). Both the Badonyi & Marsh prediction and the broader genomic evidence point to gain-of-function as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.

GOFprediction above median
DNprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

352 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic57
Likely Pathogenic6
VUS222
Likely Benign25
Benign1
Conflicting2
57
Pathogenic
6
Likely Pathogenic
222
VUS
25
Likely Benign
1
Benign
2
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
57
0
57
Likely Pathogenic
1
0
5
0
6
VUS
0
212
10
0
222
Likely Benign
0
23
0
2
25
Benign
0
0
0
1
1
Conflicting
—2
Total1235723313

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

PARP10 · 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 →
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

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