ZNF687

Chr 1AD

zinc finger protein 687

Also known as: PDB6

NCBI Gene: 57592ENSG00000143373UniProt: Q8N1G0OMIM: 610568

This gene encodes C2H2 zinc finger protein. The encoded protein may play a role in bone differentiation and development. Mutations in this gene are the cause of Paget disease of bone-6. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Paget disease of bone 6MIM #616833
AD

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
7
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.32
LOEUF· LoF intol.
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint?
0.32LOEUF
pLI 0.971
Z-score 4.52
OE 0.15 (0.08–0.32)
Highly constrained

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

Missense Constraint?
1.81Z-score
OE missense 0.81 (0.76–0.87)
609 obs / 748.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.15 (0.08–0.32)
0≤0.351.4
Missense OE?0.81 (0.76–0.87)
0≤0.61.4
Synonymous OE?1.10
0≤1.21.6
LoF obs/exp: 5 / 33.0Missense obs/exp: 609 / 748.2Syn Z: -1.37

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ZNF687 · 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