ZFTRAF1

Chr 8

zinc finger TRAF-type and ring finger containing 1

Also known as: CHRP, CYHR1

Predicted to enable zinc ion binding activity. Predicted to be located in nuclear envelope and perinuclear region of cytoplasm. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Jul 2025]

OMIMResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.
0
Active trials
1
Pubs (1 yr)
P/LP submissions
P/LP missense
0.53
LOEUF
LOF
Mechanism· G2P

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Missense constrained — critical functional residues
LoF Constraint?
0.53LOEUF
pLI 0.491
Z-score 2.83
OE 0.20 (0.090.53)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
3.15Z-score
OE missense 0.42 (0.350.49)
96 obs / 230.9 exp
Constrained

Highly missense-constrained (top ~0.1%)

Observed / Expected Ratios?
LoF OE?0.20 (0.090.53)
00.351.4
Missense OE?0.42 (0.350.49)
00.61.4
Synonymous OE?0.97
01.21.6
LoF obs/exp: 3 / 14.7Missense obs/exp: 96 / 230.9Syn Z: 0.29

ClinVar Variant Classifications

0 submitted variants in 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.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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