CIART

Chr 1

circadian associated repressor of transcription

Also known as: C1orf51, CHRONO, GM129

NCBI Gene: 148523 ENSG00000159208 UniProt: Q8N365 OMIM: 615782

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]

OMIM Research

OMIM ResearchGenerating clinical summary…

LOEUF 0.45

Clinical Summary— CIART

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Population Constraint (gnomAD)

Moderately constrained gene (pLI 0.79) — some intolerance to loss-of-function variants.

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ClinVar Variants

52 VUS of 57 total submissions

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Clinical Trials

6 active or recruiting trials — potential therapeutic options may be available

Explore recent and relevant literature in Research Assistant →

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

57 submitted variants in ClinVar

ClinVar

Classification Summary

VUS52

Likely Benign4

Benign1

VUS

Likely Benign

Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	Missense + Inframe	Synonymous	Total
Pathogenic	0	0	0
Likely Pathogenic	0	0	0
VUS	52	0	52
Likely Benign	4	0	4
Benign	0	1	1
Total	56	1	57

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

View in ClinVar →

13 pathogenic / likely-pathogenic (of 20) ClinVar copy-number / structural variants overlap CIART — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →

Protein Context — Lollipop Plot

CIART · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

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

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

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

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

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