Ensembl is currently experiencing issues

The Ensembl REST API is temporarily unavailable. Some gene data (transcript details, protein domains) may be incomplete. Other data sources are unaffected.

You can check Ensembl's status at status.ensembl.org

CIROZ

Chr 1AR

ciliated left-right organizer protein containing ZP-N domains

Also known as: C1orf127, HTX14

NCBI Gene: 148345 UniProt: Q8N9H9 OMIM: 619700

The protein functions in left-right patterning during embryonic development, determining the asymmetric positioning of internal organs. Mutations cause heterotaxy, a condition involving abnormal arrangement of thoracic and abdominal organs, particularly affecting the heart and other visceral organs. The condition follows autosomal recessive inheritance.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

Involved in establishment of left/right asymmetry. Located in extracellular region. Implicated in visceral heterotaxy 14. [provided by Alliance of Genome Resources, Jun 2026]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Heterotaxy, visceral, 14, autosomalMIM #621080

Clinical highlights

Gene–disease validity

Not independently assessedOMIM lists Heterotaxy, visceral, 14, autosomal; no ClinGen or GenCC tier

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

—

LOEUF

—

Mechanism

Some data sources returned errors (2)

ensembl: Error: Ensembl fetch failed: 400 for /lookup/symbol/homo_sapiens/CIROZ?content-type=application/json

gnomad: Error: Gene not found

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

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

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 36

1,058 rare PASS variants

Rare truncating (LoF)

1 in 280

152 rare PASS variants

Rare synonymous (reference)

1 in 140

447 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for CIROZ. 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 46	1 in 350
South Asian	~43k	1 in 33	1 in 430
Remaining (unassigned)	~30k	1 in 34	1 in 320
European (Finnish)	~27k	1 in 99	1 in 4,400
Admixed American	~22k	1 in 45	1 in 320
African / African American	~21k	1 in 46	1 in 830
East Asian	~20k	1 in 53	1 in 240
Ashkenazi Jewish	~13k	1 in 150	≈ 1 in 13,000
Middle Eastern	~2,884	1 in 47	1 in 350

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.