PWARSN

Summary

PWARSN (Prader Willi/Angelman region RNA, SNRPN neighbor, HGNC:30001) is a long non-coding RNA gene on chromosome 15q11.2.

This gene encodes a novel transcript, and is located in the Prader-Willi syndrome critical region on chromosome 15. This gene is expressed exclusively from the paternal allele.

Source: NCBI Gene 347746 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 3 total — 3 pathogenic

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:30001
Approved symbol	PWARSN
Name	Prader Willi/Angelman region RNA, SNRPN neighbor
Location	15q11.2
Locus type	RNA, long non-coding
Status	Approved
Aliases	PAR-SN, PARSN
Entrez	347746
RNAcentral	URS000075D1D3 — lncRNA, 1797 nt, 1 organism(s)

Gene structure

Transcript identifiers

Ensembl transcripts: 0

RefSeq mRNA: 0 — MANE Select: None

Canonical transcript exons

None — 0 exons

Expression profiles

Top tissues by expression

0 total, by Bgee expression score (0-100, higher = more expressed):

Regulation

Is transcription factor: no

Cross-species orthologs

0 orthologs

Protein

Protein identifiers

Canonical reviewed UniProt: None (reviewed: )

All UniProt accessions (0):

RefSeq proteins (0): (*=MANE)

Domains & families (InterPro)

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 0 (showing top):

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (0):

Protein interactions and networks

STRING

0 interactions, top by confidence (×1000):

IntAct

0 interactions, top by confidence:

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

3 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	3
Likely pathogenic	0
Uncertain significance	0
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (3)

Variant ID	HGVS	Classification
1808619	GRCh37/hg19 15q11.2-13.1(chr15:22770422-28545601)x4	Pathogenic
1808717	GRCh37/hg19 15q11.2-13.1(chr15:22770422-28545355)x3	Pathogenic
3063363	GRCh37/hg19 15q11.2-12(chr15:23620191-25972663)x1	Pathogenic

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000199893 (15:24984045 A>AAT), RS1000890472 (15:24981889 C>A,T), RS1000962025 (15:24982223 T>C), RS1001239015 (15:24982714 A>G), RS1001354543 (15:24982871 C>T), RS1002243081 (15:24981210 C>G,T), RS1002357409 (15:24981409 G>C), RS1002419315 (15:24981678 A>G), RS1002643997 (15:24982442 G>A), RS1002696218 (15:24982691 A>G), RS1002816685 (15:24981459 G>A,T), RS1003244566 (15:24980154 A>G,T), RS1003360724 (15:24980425 C>T), RS1003431232 (15:24980538 A>G), RS1003567931 (15:24982155 T>G)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 0 entries

CTD chemical–gene interactions

3 total (human), top 3 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
fipronil	decreases expression	1
Sunitinib	increases expression	1
Benzo(a)pyrene	decreases methylation	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.