ZNF275

Chr X

zinc finger protein 275

NCBI Gene: 10838ENSG00000063587UniProt: Q9NSD4

This gene encodes a zinc finger protein that appears to be conserved in eutheria. Its function has not yet been established. [provided by RefSeq, Jul 2010]

0
Active trials
104
Pathogenic / LP
151
ClinVar variants
0
Pubs (1 yr)
1.0
Missense Z
1.23
LOEUF
Clinical Summary— ZNF275
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
104 Pathogenic / Likely Pathogenic· 44 VUS of 151 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
1.23LOEUF
pLI 0.000
Z-score 1.05
OE 0.65 (0.37–1.23)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
0.97Z-score
OE missense 0.78 (0.67–0.91)
114 obs / 146.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.65 (0.37–1.23)
0≤0.351.4
Missense OE0.78 (0.67–0.91)
0≤0.61.4
Synonymous OE0.92
0≤1.21.6
LoF obs/exp: 7 / 10.7Missense obs/exp: 114 / 146.9Syn Z: 0.49
DNGOF
DN
0.89top 5%
GOF
0.78top 25%
LOF
0.2191th %ile

This gene has evidence for multiple mechanisms of pathogenicity (dominant-negative and gain-of-function). Both the Badonyi & Marsh prediction and the broader genomic evidence point to dominant-negative as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.

DNprediction above median
GOFprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

151 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic102
Likely Pathogenic2
VUS44
Likely Benign2
Conflicting1
102
Pathogenic
2
Likely Pathogenic
44
VUS
2
Likely Benign
1
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
102
0
102
Likely Pathogenic
0
0
2
0
2
VUS
0
30
14
0
44
Likely Benign
0
2
0
0
2
Benign
0
0
0
0
0
Conflicting
—1
Total0321180151

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

View in ClinVar →

ZNF275 · 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.

Search ClinicalTrials.gov →
Clinical Literature
Landmark / reviewRecent case evidence
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 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
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