HOATZ

Chr 11

HOATZ cilia and flagella associated protein

Also known as: C11orf88

NCBI Gene: 399949 ENSG00000183644 UniProt: Q6PI97

Predicted to be involved in axoneme assembly; flagellated sperm motility; and spermatogenesis. Predicted to be located in cilium and cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]

Research

Predicted to be involved in axoneme assembly; flagellated sperm motility; and spermatogenesis. Predicted to be located in cilium and cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

—

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

gnomad: Error: gnomAD API error: 400

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

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

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 150

261 rare PASS variants

Rare truncating (LoF)

1 in 1,500

51 rare PASS variants

Rare synonymous (reference)

1 in 280

104 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for HOATZ. 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 250	1 in 2,800
South Asian	~43k	1 in 140	1 in 680
Remaining (unassigned)	~30k	1 in 170	1 in 1,600
European (Finnish)	~27k	1 in 330	≈ 1 in 6,500
Admixed American	~22k	1 in 160	1 in 1,000
African / African American	~21k	1 in 180	1 in 450
East Asian	~20k	1 in 160	≈ 1 in 6,500
Ashkenazi Jewish	~13k	1 in 410	none seen
Middle Eastern	~2,884	1 in 130	none seen

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.