ZNF827

Chr 4

zinc finger protein 827

NCBI Gene: 152485ENSG00000151612UniProt: Q17R98OMIM: 617962

Enables NuRD complex binding activity. Involved in several processes, including establishment of protein localization to telomere; negative regulation of shelterin complex assembly; and telomere maintenance. Located in chromatin and chromosome, telomeric region. Part of ribonucleoprotein complex. [provided by Alliance of Genome Resources, Jul 2025]

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
0.23
LOEUF· LoF intol.
LOF
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint?
0.23LOEUF
pLI 1.000
Z-score 5.51
OE 0.11 (0.06–0.23)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint?
1.90Z-score
OE missense 0.78 (0.73–0.85)
487 obs / 620.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.11 (0.06–0.23)
0≤0.351.4
Missense OE?0.78 (0.73–0.85)
0≤0.61.4
Synonymous OE?1.02
0≤1.21.6
LoF obs/exp: 5 / 44.9Missense obs/exp: 487 / 620.4Syn Z: -0.22

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ZNF827 · 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