CIART

Chr 1

circadian associated repressor of transcription

Also known as: C1orf51, CHRONO, GM129

NCBI Gene: 148523ENSG00000159208UniProt: Q8N365

Predicted to enable E-box binding activity. Predicted to be involved in circadian regulation of gene expression; locomotor rhythm; and negative regulation of DNA-templated transcription. Predicted to be located in PML body. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
7
Active trials
11
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.45
LOEUF
—
Mechanism
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.45LOEUF
pLI 0.791
Z-score 2.96
OE 0.14 (0.06–0.45)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
1.00Z-score
OE missense 0.81 (0.72–0.92)
179 obs / 221.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.14 (0.06–0.45)
0≤0.351.4
Missense OE?0.81 (0.72–0.92)
0≤0.61.4
Synonymous OE?0.81
0≤1.21.6
LoF obs/exp: 2 / 13.9Missense obs/exp: 179 / 221.0Syn Z: 1.37

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

CIART · 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

ClinicalTrials.gov
Advanced Kidney Cancer

The Impact of Time-of-day-Dependent Administration of Nivolumab-Ipilimumab (ICI/ICI) Combination on Overall Survival in Adults With Advanced Kidney Cancer: A Pragmatic Multicenter, Randomized Controlled Trial.

NOT YET RECRUITING
NCT07338981Phase PHASE3Guliz OzgunStarted 2026-04
Nivolumab & IpilimumabNivolumab + Ipilimumab
Advanced Bladder Cancer

The Impact of Time-of-day Administration of EV/P on Objective Response Rate in Adults With Advanced Bladder Cancer

NOT YET RECRUITING
NCT07346053Phase PHASE3Guliz OzgunStarted 2026-05
enfortumab vedotin and pembrolizumab (EV/P)
Obesity (Disorder)Morbid ObesityBariatric Sleeve Gastrectomy

Chrono-ALIGN: A Chronotype-Based Chrono-Nutrition Intervention in Post-Bariatric Patients

NOT YET RECRUITING
NCT07324044Phase NAKing Saud UniversityStarted 2026-01-01
Standard Post-Bariatric Care (Control)Early Time-Restricted Eating (eTRE)Chronotype-Based Chrono-Nutrition (CB-CN)
Circadian Rhythm

CIRCA-MED WP1 & WP3 - Circadian Rhythms in ICU Patients

ACTIVE NOT RECRUITING
NCT07811492Charite University, Berlin, GermanyStarted 2025-10-01
Exposure to routine clinical parametersExposure to ICU clinical factors and treatmentsExposure to critical illness-related conditions
Sleep QualityMeal TimingCircadian Rhythm

This Trial Examines How Last Meal Composition and Timing Affect Sleep Quality and Circadian Gene Expression Among Medical Residents. Recruitment Not Yet Started; Study Begins Dec 2025 and Ends Dec 2026.

ENROLLING BY INVITATION
NCT07339592Phase NAUniversity of JordanStarted 2025-12-01
High-Carbohydrate Last MealHigh-Protein Last MealBalanced Standard Dinner
Patients With Home Parenteral Nutrition

Chronobiology and Home Parenteral Nutrition Study. CHRONO-HPN Study

RECRUITING
NCT07554703Phase NAFundación Pública Andaluza para la Investigación de Málaga en Biomedicina y SaludStarted 2025-08-18
Patient recieving home parenteral nutrition
Cystic Fibrosis

Circadian Rhythm Disorders in Children With Cystic Fibrosis Under CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) Modulators

RECRUITING
NCT06370962Hospices Civils de LyonStarted 2024-04-29

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients