ZFX
Chr XX-linkedzinc finger protein X-linked
ZFX encodes a transcriptional activator containing 13 zinc fingers that regulates stem cell self-renewal in hematopoietic and other tissues. Mutations cause X-linked syndromic intellectual developmental disorder 37. The gene is highly constrained against loss-of-function variants (pLI = 1.0, LOEUF = 0.16), indicating intolerance to functional disruption.
Strong evidence — appropriate for clinical testing
Some data sources returned errors (1)
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Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Highly missense-constrained (top ~0.1%)
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
ZFX · 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