ZNF691

Chr 1

zinc finger protein 691

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
LOEUF 0.47
Clinical SummaryZNF691
Population Constraint (gnomAD)
Moderately constrained gene (pLI 0.82) — some intolerance to loss-of-function variants.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Moderate LoF intolerance
LoF Constraint
0.47LOEUF
pLI 0.824
Z-score 2.65
OE 0.10 (0.030.47)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint
0.53Z-score
OE missense 0.89 (0.791.01)
168 obs / 188.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.10 (0.030.47)
00.351.4
Missense OE0.89 (0.791.01)
00.61.4
Synonymous OE0.93
01.21.6
LoF obs/exp: 1 / 10.1Missense obs/exp: 168 / 188.4Syn Z: 0.43

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

ZNF691 · 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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