PARP9

Chr 3

poly(ADP-ribose) polymerase family member 9

Also known as: ARTD9, BAL, BAL1, MGC:7868

Enables several functions, including ADP-D-ribose binding activity; STAT family protein binding activity; and pentosyltransferase activity. Involved in several processes, including DNA damage checkpoint signaling; regulation of defense response; and regulation of macromolecule metabolic process. Located in several cellular components, including mitochondrion; nucleoplasm; and site of DNA damage. Part of protein-containing complex. [provided by Alliance of Genome Resources, Apr 2025]

ResearchGenerating clinical summary…
DNmechanismLOEUF 0.81
Clinical SummaryPARP9
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.81LOEUF
pLI 0.000
Z-score 2.41
OE 0.55 (0.390.81)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.01Z-score
OE missense 0.87 (0.800.94)
385 obs / 445.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.55 (0.390.81)
00.351.4
Missense OE?0.87 (0.800.94)
00.61.4
Synonymous OE?0.88
01.21.6
LoF obs/exp: 19 / 34.2Missense obs/exp: 385 / 445.0Syn Z: 1.16

This gene — mechanism propensity

DN
0.7327th %ile
GOF
0.6149th %ile
LOF
0.1993th %ile

The highest-scoring mechanism for this gene is dominant-negative.

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

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

PARP9 · 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.

Search ClinicalTrials.gov →