ZNF691

Chr 1

zinc finger protein 691

Also known as: Zfp691

NCBI Gene: 51058 ENSG00000164011 UniProt: Q5VV52

ZNF691 encodes a transcription factor that binds DNA and regulates gene expression by RNA polymerase II in the nucleus. The gene is highly constrained against loss-of-function variants (pLI 0.82, LOEUF 0.47), suggesting that mutations would likely cause significant developmental consequences. However, no specific disease associations have been established for this gene in current databases.

ResearchSummary from RefSeq, UniProt

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

ResearchGenerating clinical summary…

LOEUF 0.47

Clinical Summary— ZNF691

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Population Constraint (gnomAD)

Moderately constrained gene (pLI 0.82) — some intolerance to loss-of-function variants.

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ClinVar Variants

46 VUS of 49 total submissions

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Moderate LoF intolerance

LoF Constraint?

0.47LOEUF

pLI 0.824

Z-score 2.65

OE 0.10 (0.03–0.47)

Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?

0.53Z-score

OE missense 0.89 (0.79–1.01)

168 obs / 188.4 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.10 (0.03–0.47)

0≤0.351.4

Missense OE?0.89 (0.79–1.01)

0≤0.61.4

Synonymous OE?0.93

0≤1.21.6

LoF obs/exp: 1 / 10.1Missense obs/exp: 168 / 188.4Syn Z: 0.43

ClinVar Variant Classifications

49 submitted variants in ClinVar

ClinVar

Classification Summary

VUS46

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	46	46
Likely Benign	2	2
Benign	0	0
Total	48	48

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

View in ClinVar →

12 pathogenic / likely-pathogenic (of 15) ClinVar copy-number / structural variants overlap ZNF691 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →