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…

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.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.45

LOEUF

—

Mechanism

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

Background carrier burden — how many people carry a rare variant somewhere in CIART?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 110

468 rare PASS variants

Rare truncating (LoF)

1 in 3,600

59 rare PASS variants

Rare synonymous (reference)

1 in 320

173 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for CIART. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 160	1 in 4,600
South Asian	~43k	1 in 110	1 in 1,400
Remaining (unassigned)	~30k	1 in 110	1 in 4,900
European (Finnish)	~27k	1 in 440	1 in 1,500
Admixed American	~22k	1 in 160	1 in 3,800
African / African American	~21k	1 in 130	1 in 3,400
East Asian	~20k	1 in 180	≈ 1 in 9,600
Ashkenazi Jewish	~13k	1 in 490	1 in 2,500
Middle Eastern	~2,884	1 in 120	≈ 1 in 2,600

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): All 5 coding exons well covered in gnomAD exomes and genomes.? see exons ↓