ZNF117

Chr 7

zinc finger protein 117

Also known as: H-plk, HPF9

NCBI Gene: 51351ENSG00000152926UniProt: Q03924OMIM: 194624

This gene encodes a protein containing multiple C2H2-type zinc finger motifs. Readthrough transcription occurs between this gene and the upstream endogenous retrovirus group 3 member 1 (ERV3-1) locus, and may result in additional transcript variants encoding the zinc finger protein. [provided by RefSeq, Jan 2017]

OMIMResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
0
Active trials
3
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.72
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.72LOEUF
pLI 0.395
Z-score 0.94
OE 0.00 (0.00–1.72)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-1.05Z-score
OE missense 1.19 (1.08–1.31)
283 obs / 237.6 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.00 (0.00–1.72)
0≤0.351.4
Missense OE?1.19 (1.08–1.31)
0≤0.61.4
Synonymous OE?1.18
0≤1.21.6
LoF obs/exp: 0 / 1.0Missense obs/exp: 283 / 237.6Syn Z: -1.31

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ZNF117 · 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 →

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