PCOTH

Chr 13

prostate and testis expressed opposite C1QTNF9B and MIPEP

Also known as: C1QTNF9B-AS1

NCBI Gene: 542767 ENSG00000205861 UniProt: Q58A44

The protein encoded by PCOTH is predicted to be located in the cytoplasm and may be involved in cellular growth and survival pathways. Currently, no established Mendelian diseases have been definitively associated with mutations in this gene. The inheritance pattern and clinical phenotypes remain to be determined as this gene requires further research to establish its role in human disease.

ResearchSummary from RefSeq, UniProt

Predicted to be located in 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)

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 PCOTH?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

none observed

0 rare PASS variants

Rare truncating (LoF)

1 in 13,000

7 rare PASS variants

Rare synonymous (reference)

none observed

0 rare PASS variants

Rare missense and truncating variants are carried at similar rates in PCOTH; this gene does not show strong loss-of-function constraint by this measure. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 4 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	none seen	1 in 11,000
Remaining (unassigned)	~30k	none seen	≈ 1 in 7,500
Admixed American	~22k	none seen	≈ 1 in 11,000
African / African American	~20k	none seen	1 in 2,800

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.