ZNF511

Chr 10

zinc finger protein 511

Also known as: Zfp511

NCBI Gene: 118472 ENSG00000198546 UniProt: Q8NB15

ZNF511 encodes a zinc finger transcription factor that binds DNA and regulates gene transcription in the nucleus. The gene shows low constraint to loss-of-function variation (pLI 0.0002, LOEUF 1.31), and currently no definitive human disease associations have been established for ZNF511 mutations.

ResearchSummary from RefSeq, UniProt

Predicted to enable DNA-binding transcription factor activity. Predicted to be involved in regulation of DNA-templated transcription. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

DNmechanismLOEUF 1.31

Clinical Summary— ZNF511

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Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

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ClinVar Variants

53 VUS of 69 total submissions

Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.31LOEUF

pLI 0.000

Z-score 0.88

OE 0.70 (0.40–1.31)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.60Z-score

OE missense 0.85 (0.73–1.00)

115 obs / 134.8 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.70 (0.40–1.31)

0≤0.351.4

Missense OE?0.85 (0.73–1.00)

0≤0.61.4

Synonymous OE?0.93

0≤1.21.6

LoF obs/exp: 7 / 10.0Missense obs/exp: 115 / 134.8Syn Z: 0.42

This gene — mechanism propensity

0.6356th %ile

GOF

0.5071th %ile

LOF

0.4037th %ile

The highest-scoring mechanism for this gene is dominant-negative.

DNprediction 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

69 submitted variants in ClinVar

ClinVar

Classification Summary

VUS53

Likely Benign2

VUS

Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	Missense + Inframe	Total
Pathogenic	0	0
Likely Pathogenic	0	0
VUS	53	53
Likely Benign	2	2
Benign	0	0
Total	55	55

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

View in ClinVar →

98 pathogenic / likely-pathogenic (of 118) ClinVar copy-number / structural variants overlap ZNF511 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →