ZFTRAF1

Chr 8

zinc finger TRAF-type and ring finger containing 1

Also known as: CHRP, CYHR1

NCBI Gene: 50626ENSG00000187954UniProt: P0DTL6OMIM: 616635

ZFTRAF1 encodes a protein predicted to bind zinc ions and localize to the nuclear envelope and perinuclear cytoplasm. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.53), but no established disease associations have been reported to date. Clinical significance of variants in this gene remains uncertain.

OMIMResearchSummary from RefSeq
LOFmechanismLOEUF 0.53
Clinical Summary— ZFTRAF1
⚡
Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.20) despite low pLI — interpret in context.
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Missense constrained — critical functional residues
LoF Constraint
0.53LOEUF
pLI 0.491
Z-score 2.83
OE 0.20 (0.09–0.53)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint
3.15Z-score
OE missense 0.42 (0.35–0.49)
96 obs / 230.9 exp
Constrained

Highly missense-constrained (top ~0.1%)

Observed / Expected Ratios
LoF OE0.20 (0.09–0.53)
0≤0.351.4
Missense OE0.42 (0.35–0.49)
0≤0.61.4
Synonymous OE0.97
0≤1.21.6
LoF obs/exp: 3 / 14.7Missense obs/exp: 96 / 230.9Syn Z: 0.29

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ZFTRAF1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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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