ZSCAN10
Chr 16ARzinc finger and SCAN domain containing 10
The protein is an embryonic stem cell-specific transcription factor that maintains pluripotency by binding specific DNA sequences and regulating expression of key genes including POU5F1/OCT4. Mutations cause otofacial neurodevelopmental syndrome with autosomal recessive inheritance. The gene is highly constrained against loss-of-function variants (pLI near 1, LOEUF 0.733), indicating intolerance to complete protein loss.
Some data sources returned errors (1)
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Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
ZSCAN10 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools