CIZ1

Chr 9

CDKN1A interacting zinc finger protein 1

Also known as: LSFR1, NP94, ZNF356

The protein encoded by CIZ1 is a zinc finger DNA binding protein that regulates the subcellular localization of CIP1/WAF1, a cell cycle regulator. Mutations cause autosomal dominant intellectual disability with variable features including developmental delay and behavioral abnormalities. This gene shows significant constraint against loss-of-function variants, suggesting that such mutations are likely to be pathogenic.

OMIMResearchSummary from RefSeq, UniProt
LOEUF 0.40
Clinical SummaryCIZ1
Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.25) despite low pLI — interpret in context.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Moderate LoF intolerance
LoF Constraint
0.40LOEUF
pLI 0.063
Z-score 4.98
OE 0.25 (0.160.40)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint
1.99Z-score
OE missense 0.75 (0.690.82)
371 obs / 495.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.25 (0.160.40)
00.351.4
Missense OE0.75 (0.690.82)
00.61.4
Synonymous OE0.93
01.21.6
LoF obs/exp: 13 / 51.7Missense obs/exp: 371 / 495.6Syn Z: 0.79

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

CIZ1 · 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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