ZNF669

Chr 1

zinc finger protein 669

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

ResearchGenerating clinical summary…
MultiplemechanismLOEUF 1.46
Clinical SummaryZNF669
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.46LOEUF
pLI 0.001
Z-score 0.74
OE 0.70 (0.361.46)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.67Z-score
OE missense 1.12 (1.011.23)
283 obs / 253.0 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.70 (0.361.46)
00.351.4
Missense OE?1.12 (1.011.23)
00.61.4
Synonymous OE?1.19
01.21.6
LoF obs/exp: 5 / 7.1Missense obs/exp: 283 / 253.0Syn Z: -1.45

This gene — mechanism propensity

DN
0.75top 25%
GOF
0.79top 25%
LOF
0.3259th %ile

This gene has evidence for multiple mechanisms of pathogenicity (gain-of-function and dominant-negative). Both the Badonyi & Marsh prediction and the broader genomic evidence point to gain-of-function as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.

GOFprediction above median
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

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

ZNF669 · 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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