ZNF438

Chr 10

zinc finger protein 438

Also known as: bA330O11.1

NCBI Gene: 220929ENSG00000183621UniProt: Q7Z4V0OMIM: 620749

Enables DNA-binding transcription factor activity. Involved in negative regulation of DNA-templated transcription. Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]

OMIMResearchGenerating clinical summary…
0
Active trials
7
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.11
LOEUF
—
Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.11LOEUF
pLI 0.000
Z-score 1.24
OE 0.67 (0.42–1.11)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.29Z-score
OE missense 1.04 (0.96–1.12)
446 obs / 429.3 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.67 (0.42–1.11)
0≤0.351.4
Missense OE?1.04 (0.96–1.12)
0≤0.61.4
Synonymous OE?1.13
0≤1.21.6
LoF obs/exp: 11 / 16.4Missense obs/exp: 446 / 429.3Syn Z: -1.30

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ZNF438 · 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