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 DNA-templated transcription and regulation of DNA-templated transcription. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Jun 2026]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.31

LOEUF

Mechanism· predicted

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

Background carrier burden — how many people carry a rare variant somewhere in ZNF511?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 100

435 rare PASS variants

Rare truncating (LoF)

1 in 2,000

70 rare PASS variants

Rare synonymous (reference)

1 in 280

181 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for ZNF511. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 130	1 in 1,900
South Asian	~43k	1 in 130	1 in 610
Remaining (unassigned)	~30k	1 in 94	1 in 1,900
European (Finnish)	~27k	1 in 230	1 in 4,900
Admixed American	~22k	1 in 120	1 in 1,200
African / African American	~21k	1 in 130	1 in 2,000
East Asian	~20k	1 in 150	≈ 1 in 5,600
Ashkenazi Jewish	~13k	1 in 290	≈ 1 in 13,000
Middle Eastern	~2,884	1 in 110	≈ 1 in 2,900

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): 5 of 6 coding exons well covered in gnomAD exomes; exon 1 marginal. Genomes: all 6.? see exons ↓