CIZ1

Chr 9

CDKN1A interacting zinc finger protein 1

NCBI Gene: 25792ENSG00000148337UniProt: Q9ULV3

May regulate the subcellular localization of CIP/WAF1

569
ClinVar variants
19
Pathogenic / LP
0.06
pLI score
0
Active trials
Clinical Summary— CIZ1
⚡
Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.25) despite low pLI — interpret in context.
📋
ClinVar Variants
19 Pathogenic / Likely Pathogenic· 238 VUS of 569 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
0.40LOEUF
pLI 0.063
Z-score 4.98
OE 0.25 (0.16–0.40)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
1.99Z-score
OE missense 0.75 (0.69–0.82)
371 obs / 495.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.25 (0.16–0.40)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.75 (0.69–0.82)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.0.93
0≤1.21.6
LoF obs/exp: 13 / 51.7Missense obs/exp: 371 / 495.6Syn Z: 0.79

ClinVar Variant Classifications

569 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic19
VUS238
Likely Benign153
Benign49
Conflicting12
19
Pathogenic
238
VUS
153
Likely Benign
49
Benign
12
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
1
18
0
19
Likely Pathogenic
0
0
0
0
0
VUS
3
196
36
3
238
Likely Benign
0
10
44
99
153
Benign
0
4
35
10
49
Conflicting
—12
Total3211133112471

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

View 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.

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Dystonia.
Morgante F et al.·Continuum (Minneap Minn)
2013Review
Genetics in dystonia.
Klein C·Parkinsonism Relat Disord
2014Review
The genetics of dystonias.
LeDoux MS·Adv Genet
2012Review
Recent advances in the genetics of dystonia.
Xiao J et al.·Curr Neurol Neurosci Rep
2014Review
CIZ1-F, an alternatively spliced variant of the DNA replication protein CIZ1 with distinct expression and localisation, is overrepresented in early stage common solid tumours.
Swarts DRA et al.·Cell Cycle
2018
CIZ1 is upregulated in hepatocellular carcinoma and promotes the growth and migration of the cancer cells.
Wu J et al.·Tumour Biol
2016
Dystonia: an update on phenomenology, classification, pathogenesis and treatment.
Balint B et al.·Curr Opin Neurol
2014Review
A Clinical and Integrated Genetic Study of Isolated and Combined Dystonia in Taiwan.
Wu MC et al.·J Mol Diagn
2022
Blepharospasm: A genetic screening study in 132 patients.
Hammer M et al.·Parkinsonism Relat Disord
2019Cohort
Primary and secondary dystonic syndromes: an update.
Charlesworth G et al.·Curr Opin Neurol
2013Review
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools