TIPARP

Chr 3

TCDD inducible poly(ADP-ribose) polymerase

Also known as: ARTD14, PARP7, pART14

NCBI Gene: 25976 ENSG00000163659 UniProt: Q7Z3E1 OMIM: 612480

This gene encodes a member of the poly(ADP-ribose) polymerase superfamily. Studies of the mouse ortholog have shown that the encoded protein catalyzes histone poly(ADP-ribosyl)ation and may be involved in T-cell function. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]

OMIM Research

OMIM ResearchGenerating clinical summary…

LOFmechanismLOEUF 0.11

Clinical Summary— TIPARP

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Population Constraint (gnomAD)

Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 1.00). One damaged copy is likely sufficient to cause disease.

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ClinVar Variants

65 VUS of 82 total submissions

Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

LoF intolerant — likely haploinsufficient

LoF Constraint?

0.11LOEUF

pLI 1.000

Z-score 4.77

OE 0.00 (0.00–0.11)

Highly constrained

Among the most LoF-intolerant genes (~top 3%)

Missense Constraint?

1.73Z-score

OE missense 0.74 (0.67–0.82)

254 obs / 344.5 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.00 (0.00–0.11)

0≤0.351.4

Missense OE?0.74 (0.67–0.82)

0≤0.61.4

Synonymous OE?1.12

0≤1.21.6

LoF obs/exp: 0 / 26.5Missense obs/exp: 254 / 344.5Syn Z: -1.07

This gene — mechanism propensity

0.2897th %ile

GOF

0.4875th %ile

LOF

0.68top 10%

The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).

LOFprediction above median · LOEUF 0.11

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.

ClinVar Variant Classifications

82 submitted variants in ClinVar

ClinVar

Classification Summary

VUS65

Likely Benign2

Benign2

VUS

Likely Benign

Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	Missense + Inframe	Non-coding	Synonymous	Total
Pathogenic	0	0	0	0
Likely Pathogenic	0	0	0	0
VUS	65	0	0	65
Likely Benign	2	0	0	2
Benign	0	1	1	2
Total	67	1	1	69

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

View in ClinVar →

18 pathogenic / likely-pathogenic (of 19) ClinVar copy-number / structural variants overlap TIPARP — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →