PARP16

Chr 15

poly(ADP-ribose) polymerase family member 16

Also known as: ARTD15, C15orf30, pART15

NCBI Gene: 54956 ENSG00000138617 UniProt: Q8N5Y8

Enables kinase binding activity; pentosyltransferase activity; and protein serine/threonine kinase activator activity. Involved in IRE1-mediated unfolded protein response; negative regulation of cytoplasmic translation; and protein auto-ADP-ribosylation. Located in endoplasmic reticulum tubular network and nuclear envelope. [provided by Alliance of Genome Resources, Jul 2025]

Research

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.48

LOEUF

—

Mechanism

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?

1.48LOEUF

pLI 0.000

Z-score 0.14

OE 0.96 (0.64–1.48)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.37Z-score

OE missense 0.92 (0.81–1.05)

167 obs / 180.9 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.96 (0.64–1.48)

0≤0.351.4

Missense OE?0.92 (0.81–1.05)

0≤0.61.4

Synonymous OE?1.00

0≤1.21.6

LoF obs/exp: 15 / 15.6Missense obs/exp: 167 / 180.9Syn Z: 0.01

Background carrier burden — how many people carry a rare variant somewhere in PARP16?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 120

458 rare PASS variants

Rare truncating (LoF)

1 in 1,600

61 rare PASS variants

Rare synonymous (reference)

1 in 180

177 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for PARP16. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 130	1 in 1,600
South Asian	~43k	1 in 120	1 in 2,300
Remaining (unassigned)	~30k	1 in 73	1 in 2,300
European (Finnish)	~27k	1 in 160	1 in 1,800
Admixed American	~22k	1 in 120	1 in 1,100
African / African American	~21k	1 in 130	1 in 1,400
East Asian	~20k	1 in 160	1 in 1,900
Ashkenazi Jewish	~13k	1 in 1,200	≈ 1 in 4,400
Middle Eastern	~2,884	1 in 110	≈ 1 in 2,900

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): All 6 coding exons well covered in gnomAD exomes and genomes.? see exons ↓