ZFTRAF1

Chr 8

zinc finger TRAF-type and ring finger containing 1

Also known as: CHRP, CYHR1

NCBI Gene: 50626ENSG00000187954UniProt: P0DTL6

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.

Summary from RefSeq
Research Assistant →
0
Active trials
0
Pubs (1 yr)
60
P/LP submissions
0%
P/LP missense
0.53
LOEUF
LOF
Mechanism· G2P
Clinical Summary— ZFTRAF1
⚡
Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.20) despite low pLI — interpret in context.
📋
ClinVar Variants
59 unique Pathogenic / Likely Pathogenic· 33 VUS of 103 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 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

103 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic53
Likely Pathogenic6
VUS33
Likely Benign1
Benign2
53
Pathogenic
6
Likely Pathogenic
33
VUS
1
Likely Benign
2
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
2
0
51
0
53
Likely Pathogenic
1
0
5
0
6
VUS
0
14
19
0
33
Likely Benign
0
0
1
0
1
Benign
0
1
1
0
2
Total31577095

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

View 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

ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 4 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 1 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found

Top 5 resultsSearch Europe PMC ↗

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