PCAT1
Chr 8prostate cancer associated transcript 1
Also known as: PCA1, PCAT-1, PiHL
This gene produces a long non-coding RNA that regulates cell proliferation by negatively regulating the BRCA2 tumor suppressor protein and positively regulating Myc oncoprotein. Based on the available information, this gene is primarily associated with cancer development rather than pediatric neurogenetic disorders. No Mendelian inheritance patterns or pediatric neurological phenotypes are established for this gene in clinical genetics databases.
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
56 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | — | — | — | — | 53 |
Likely Pathogenic | — | — | — | — | 0 |
VUS | — | — | — | — | 2 |
Likely Benign | — | — | — | — | 0 |
Benign | — | — | — | — | 0 |
| Total | — | 55 | |||
Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
PCAT1 · 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