ZKSCAN8

Chr 6

zinc finger with KRAB and SCAN domains 8

Also known as: LD5-1, ZNF192, ZSCAN40

NCBI Gene: 7745ENSG00000198315UniProt: Q15776

Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be located in cytosol and nucleus. [provided by Alliance of Genome Resources, Jun 2026]

ResearchGenerating clinical summary…
0
Active trials
0
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.88
LOEUF
Multiple*
Mechanism· predicted
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?
0.88LOEUF
pLI 0.000
Z-score 2.03
OE 0.57 (0.38–0.88)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.09Z-score
OE missense 0.82 (0.74–0.92)
254 obs / 308.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.57 (0.38–0.88)
0≤0.351.4
Missense OE?0.82 (0.74–0.92)
0≤0.61.4
Synonymous OE?0.91
0≤1.21.6
LoF obs/exp: 15 / 26.2Missense obs/exp: 254 / 308.0Syn Z: 0.73

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ZKSCAN8 · 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