Ensembl is currently experiencing issues
The Ensembl REST API is temporarily unavailable. Some gene data (transcript details, protein domains) may be incomplete. Other data sources are unaffected.
You can check Ensembl's status at status.ensembl.org
PWARSN
Chr 15Prader Willi/Angelman region RNA, SNRPN neighbor
Also known as: PAR-SN, PARSN
This gene encodes a novel transcript located in the Prader-Willi syndrome critical region on chromosome 15 and is expressed exclusively from the paternal allele. Mutations cause Prader-Willi syndrome, a complex neurodevelopmental disorder characterized by neonatal hypotonia, feeding difficulties in infancy followed by hyperphagia and obesity, intellectual disability, and behavioral problems. The inheritance pattern involves genomic imprinting with paternal expression, so disease results from paternal deletions, maternal uniparental disomy, or imprinting defects.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/PWARSN?content-type=application/json&expand=1
gnomad: Error: Gene not found
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
PWARSN · 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