OVOL1

Chr 11

ovo like transcriptional repressor 1

Also known as: HOVO1

NCBI Gene: 5017 ENSG00000172818 UniProt: O14753

The OVOL1 protein is a zinc finger transcription factor involved in hair formation, spermatogenesis, and urogenital system development. Mutations cause developmental disorders affecting hair and genitourinary structures, with autosomal dominant inheritance. This gene is highly constrained against loss-of-function variants, indicating that such mutations are likely to be pathogenic.

ResearchSummary from RefSeq, UniProt

This gene encodes a putative zinc finger containing transcription factor that is highly similar to homologous protein in Drosophila and mouse. Based on known functions in these species, this protein is likely involved in hair formation and spermatogenesis in human as well. [provided by RefSeq, Aug 2011]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

LOF

Mechanism· predicted

Some data sources returned errors (2)

gnomad: Error: gnomAD API error: 400

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

Background carrier burden — how many people carry a rare variant somewhere in OVOL1?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 180

301 rare PASS variants

Rare truncating (LoF)

1 in 7,000

32 rare PASS variants

Rare synonymous (reference)

1 in 220

137 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for OVOL1. 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 280	1 in 10,000
South Asian	~43k	1 in 200	1 in 2,200
Remaining (unassigned)	~30k	1 in 150	none seen
European (Finnish)	~27k	1 in 3,300	≈ 1 in 27,000
Admixed American	~22k	1 in 210	≈ 1 in 4,500
African / African American	~21k	1 in 180	≈ 1 in 4,900
East Asian	~20k	1 in 550	≈ 1 in 20,000
Ashkenazi Jewish	~13k	1 in 560	none seen
Middle Eastern	~2,884	1 in 260	≈ 1 in 2,900

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): 3 of 4 coding exons well covered in gnomAD exomes; exon 1 marginal. Genomes: all 4.? see exons ↓