ZNF853

Chr 7

zinc finger protein 853

Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
MultiplemechanismLOEUF 0.52
Clinical SummaryZNF853
Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.32) despite low pLI — interpret in context.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Moderate LoF intolerance
LoF Constraint?
0.52LOEUF
pLI 0.002
Z-score 3.86
OE 0.32 (0.200.52)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
1.93Z-score
OE missense 0.69 (0.620.78)
216 obs / 311.8 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.32 (0.200.52)
00.351.4
Missense OE?0.69 (0.620.78)
00.61.4
Synonymous OE?0.76
01.21.6
LoF obs/exp: 12 / 37.5Missense obs/exp: 216 / 311.8Syn Z: 2.34

This gene — mechanism propensity

DN
0.6840th %ile
GOF
0.6638th %ile
LOF
0.3067th %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

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

ZNF853 · 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

No active trials found for this gene.

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