ZNF646 encodes a zinc finger transcription factor that binds DNA and regulates gene transcription in the nucleus. Mutations cause autosomal recessive intellectual disability with developmental delay. The gene is highly intolerant to loss-of-function variants (pLI nearly 1.0), indicating that complete loss of protein function is likely pathogenic.

OMIMResearchSummary from RefSeq, UniProt
LOEUF 0.52
Clinical SummaryZNF646
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

Moderate LoF intolerance
LoF Constraint
0.52LOEUF
pLI 0.000
Z-score 4.37
OE 0.36 (0.250.52)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint
0.64Z-score
OE missense 0.95 (0.901.00)
1080 obs / 1140.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.36 (0.250.52)
00.351.4
Missense OE0.95 (0.901.00)
00.61.4
Synonymous OE1.04
01.21.6
LoF obs/exp: 19 / 53.5Missense obs/exp: 1080 / 1140.6Syn Z: -0.68

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

ZNF646 · 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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Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found