PCOTH
Chr 13prostate and testis expressed opposite C1QTNF9B and MIPEP
Also known as: C1QTNF9B-AS1
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.
Population Genetics & Constraint
Constraint data not available from gnomAD.
This gene has evidence for multiple mechanisms of pathogenicity (gain-of-function and dominant-negative). Both the Badonyi & Marsh prediction and the broader genomic evidence point to gain-of-function as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
163 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 39 | 0 | 39 |
Likely Pathogenic | 0 | 0 | 3 | 0 | 3 |
VUS | 0 | 53 | 34 | 0 | 87 |
Likely Benign | 0 | 3 | 13 | 5 | 21 |
Benign | 0 | 4 | 3 | 1 | 8 |
Conflicting | — | 2 | |||
| Total | 0 | 60 | 92 | 6 | 160 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
PCOTH · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools