ZFTRAF1

Chr 8

zinc finger TRAF-type and ring finger containing 1

Also known as: CHRP, CYHR1

NCBI Gene: 50626 ENSG00000187954 UniProt: P0DTL6 OMIM: 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.

OMIM ResearchSummary from RefSeq

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]

OMIM ResearchGenerating clinical summary…

LOFmechanismLOEUF 0.53

Clinical Summary— ZFTRAF1

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Population Constraint (gnomAD)

Constrained for loss-of-function variants (OE-LoF 0.20) despite low pLI — interpret in context.

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ClinVar Variants

3 unique Pathogenic / Likely Pathogenic· 14 VUS of 26 total submissions

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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 OE?0.20 (0.09–0.53)

0≤0.351.4

Missense OE?0.42 (0.35–0.49)

0≤0.61.4

Synonymous OE?0.97

0≤1.21.6

LoF obs/exp: 3 / 14.7Missense obs/exp: 96 / 230.9Syn Z: 0.29

ClinVar Variant Classifications

26 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic2

Likely Pathogenic1

VUS14

Benign1

Pathogenic

Likely Pathogenic

VUS

Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	LoF	Missense + Inframe	Total
Pathogenic	2	0	2
Likely Pathogenic	1	0	1
VUS	0	14	14
Likely Benign	0	0	0
Benign	0	1	1
Total	3	15	18

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

56 pathogenic / likely-pathogenic (of 77) ClinVar copy-number / structural variants overlap ZFTRAF1 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →