ZNF593

Chr 1

zinc finger protein 593

Also known as: ZT86

This zinc finger protein promotes nuclear export of the 60S ribosomal subunit during ribosome maturation and negatively regulates Oct-2 transcription factor activity. The gene shows low constraint against loss-of-function variants (pLI = 0.0007, LOEUF = 1.69), suggesting loss-of-function variants are generally well-tolerated in the population. No established disease associations have been reported for ZNF593 mutations.

OMIMResearchSummary from RefSeq, UniProt
LOEUF 1.69
Clinical SummaryZNF593
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint
1.69LOEUF
pLI 0.001
Z-score 0.30
OE 0.86 (0.451.69)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
0.75Z-score
OE missense 0.76 (0.620.94)
62 obs / 81.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.86 (0.451.69)
00.351.4
Missense OE0.76 (0.620.94)
00.61.4
Synonymous OE0.68
01.21.6
LoF obs/exp: 5 / 5.8Missense obs/exp: 62 / 81.1Syn Z: 1.50

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

ZNF593 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC