ZFP57

Chr 6

ZFP57 zinc finger protein

Also known as: C6orf40, TNDM1, ZNF698, bA145L22, bA145L22.2

NCBI Gene: 346171ENSG00000204644UniProt: Q9NU63

The protein encoded by this gene is a zinc finger protein containing a KRAB domain. Studies in mouse suggest that this protein may function as a transcriptional repressor. Mutations in this gene have been associated with transient neonatal diabetes mellitus type 1 (TNDM1).[provided by RefSeq, Sep 2009]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtDiabetes mellitus, transient neonatal, 1

Clinical highlights

Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.
0
Active trials
21
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.34
LOEUF
LOF
Mechanism· G2P
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.34LOEUF
pLI 0.001
Z-score 0.88
OE 0.68 (0.37–1.34)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
1.38Z-score
OE missense 0.77 (0.69–0.86)
219 obs / 284.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.68 (0.37–1.34)
0≤0.351.4
Missense OE?0.77 (0.69–0.86)
0≤0.61.4
Synonymous OE?0.85
0≤1.21.6
LoF obs/exp: 6 / 8.8Missense obs/exp: 219 / 284.5Syn Z: 1.21

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ZFP57 · 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 →

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