PWAR6

Summary

PWAR6 (Prader Willi/Angelman region RNA 6, HGNC:49129) is a long non-coding RNA gene on chromosome 15q11.2.

At a glance

• Clinical variants (ClinVar): 1 total — 1 likely-pathogenic

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:49129
Approved symbol	PWAR6
Name	Prader Willi/Angelman region RNA 6
Location	15q11.2
Locus type	RNA, long non-coding
Status	Approved
Aliases	HBT8, PAR-6
Ensembl gene	ENSG00000257151
Entrez	100506965
RNAcentral	URS00004F2D30 — lncRNA, 4618 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

FANTOM5 (CAGE): breadth broad, TPM avg 0.7625 / max 162.8225, expressed in 221 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
145532	0.5233	181
145533	0.2392	89

Top tissues by expression

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

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 4)

• We used allele specific expression in lymphoblastoid cell lines from 306 Hutterites related in a single pedigree to provide formal evidence for parent of origin effects. Our approach identified two putative novel imprinted genes, PXDC1 and PWAR6, with asymmetrical parent of origin gene expression. (PMID:30204804)
• PWAR6 interacts with miR106a5p to regulate the osteogenic differentiation of human periodontal ligament stem cells. (PMID:33576453)
• LncRNA PWAR6 regulates proliferation and migration by epigenetically silencing YAP1 in tumorigenesis of pancreatic ductal adenocarcinoma. (PMID:33834618)
• Long Non-coding RNA Prader Willi/Angelman Region RNA 6 Suppresses Glioma Development by Modulating MicroRNA-106a-5p. (PMID:37610693)

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

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	1
Uncertain significance	0
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
832161	NC_000015.10:g.(?24566038)(25781223_?)dup	Likely pathogenic

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000425072 (15:25031291 G>A), RS1000441675 (15:25036341 A>G), RS1000711358 (15:25031212 A>G), RS1001103094 (15:25036626 C>G), RS1001977592 (15:25033753 G>A,C), RS1001993707 (15:25035919 C>A,G), RS1002013608 (15:25030352 C>A), RS1002428543 (15:25034108 C>T), RS1004083516 (15:25033716 G>A), RS1004482722 (15:25031845 C>T), RS1004802632 (15:25036903 T>C), RS1005373860 (15:25035895 G>A,T), RS1005400016 (15:25035663 A>G), RS1005721984 (15:25034703 G>A), RS1006368378 (15:25034690 C>T)

Disease associations

OMIM: gene `` | disease phenotypes: MIM:105830

GenCC curated gene-disease

Mondo (1): Angelman syndrome (MONDO:0007113)

Orphanet (1): Angelman syndrome (Orphanet:72)

HPO phenotypes

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

GWAS associations

0 associations (top):

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D017204	Angelman Syndrome	C10.228.662.075; C16.131.077.095; C16.131.260.040; C16.320.180.040; C16.320.447.250
C531619	Happy puppet syndrome (formerly) (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 0 entries

CTD chemical–gene interactions

5 total (human), top 5 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
methylmercuric chloride	decreases expression	1
entinostat	increases expression	1
Doxorubicin	decreases expression	1
Valproic Acid	affects expression	1
Cyclosporine	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT02893254	PHASE3	COMPLETED	Efficacy and Safety of IBI303 in Adult Patients With Active Ankylosing Spondylitis
NCT03882918	PHASE3	TERMINATED	An Open-Label Study to Evaluate the Long-Term Safety, Tolerability, and Efficacy of OV101 in Individuals With Angelman Syndrome
NCT06415344	PHASE3	ENROLLING_BY_INVITATION	Long-term Extension of GTX-102 in Angelman Syndrome
NCT06617429	PHASE3	ACTIVE_NOT_RECRUITING	Phase 3 Efficacy and Safety Study of GTX-102 in Pediatric Subjects With Angelman Syndrome (AS)
NCT06914609	PHASE3	RECRUITING	REVEAL: A Phase 3 Study of ION582 in Angelman Syndrome
NCT07605429	PHASE3	NOT_YET_RECRUITING	Phase III Clinical Study of Rugonersen in Angelman Syndrome.
NCT02056665	PHASE2	COMPLETED	Study to Evaluate the Efficacy and Safety of Minocycline in Angelman Syndrome
NCT02996305	PHASE2	COMPLETED	A Study in Adults and Adolescents With Angelman Syndrome (STARS)
NCT05011851	PHASE2	COMPLETED	An Open-Label Study of the Safety, Tolerability, and Pharmacokinetics of Oral NNZ-2591 in Angelman Syndrome
NCT05630066	PHASE2	COMPLETED	A Study to Investigate the Pharmacokinetics (PK) and Safety and to Provide Proof of Mechanism of Alogabat in Children and Adolescents Aged 5-17 Years With Angelman Syndrome (AS) With Deletion Genotype.
NCT07157254	PHASE2	RECRUITING	A Safety and Efficacy Study of GTX-102 in Subjects With Deletion- or Nondeletion-type Angelman Syndrome (AS)
NCT00829439	PHASE1	COMPLETED	Study on Tolerability of Levodopa/Carbidopa in Children With Angelman Syndrome
NCT03109756	PHASE1	COMPLETED	Single Dose Pharmacokinetic (PK) Study
NCT04428281	PHASE1	COMPLETED	A Study to Investigate the Safety, Tolerability, Pharmacokinetics (PK) and Pharmacodynamics (PD) of RO7248824 in Participants With Angelman Syndrome (AS)
NCT04863794	PHASE1	COMPLETED	A Study To Assess Distribution Of RO7248824 In The Central Nervous System Following Single Intrathecal Doses Of [89zr] Labeled RO7248824 In Healthy Male Participants
NCT01281475	PHASE2/PHASE3	COMPLETED	A Trial of Levodopa in Angelman Syndrome
NCT04259281	PHASE1/PHASE2	COMPLETED	A Study of the Safety and Tolerability of GTX-102 in Children With Angelman Syndrome
NCT05127226	PHASE1/PHASE2	RECRUITING	HALOS: A Safety, Tolerability, Pharmacokinetics and Pharmacodynamics Study of Multiple Ascending Doses of ION582 in Participants With Angelman Syndrome
NCT07181837	PHASE1/PHASE2	RECRUITING	A Phase 1/2 Study of the Safety and Efficacy of MVX-220 in Angelman Syndrome
NCT04103333	EARLY_PHASE1	COMPLETED	Angelman Syndrome (AS) Biomarker Study
NCT00004351	Not specified	COMPLETED	Study of Phenotype and Genotype Correlations in Patients With Contiguous Gene Deletion Syndromes
NCT00296764	Not specified	COMPLETED	Characterization of Angelman Syndrome
NCT00348933	Not specified	COMPLETED	Dietary Supplements for the Treatment of Angelman Syndrome
NCT01531582	Not specified	COMPLETED	Minocycline in the Treatment of Angelman Syndrome
NCT02381457	Not specified	COMPLETED	SNP-based Microdeletion and Aneuploidy RegisTry (SMART)
NCT02670694	Not specified	COMPLETED	Sleep Abnormalities in Rare Genetic Disorders: AS, RTT, and PW
NCT03235037	Not specified	COMPLETED	Clinical Trial of Levodopa/Carbidopa ( Sinemet) Therapy in Angel Man Syndrome
NCT03358823	Not specified	COMPLETED	Study on the Brain Network of Angelman Syndrome
NCT03644693	Not specified	COMPLETED	Nutritional Formulation for Angelman Syndrome
NCT03650569	Not specified	COMPLETED	Italian Angelman Syndrome Registry
NCT03655223	Not specified	ENROLLING_BY_INVITATION	Early Check: Expanded Screening in Newborns
NCT03836300	Not specified	ENROLLING_BY_INVITATION	Parent and Infant Inter(X)Action Intervention (PIXI)
NCT04392596	Not specified	COMPLETED	Study of Bone Mineral Density and Trabecular Bone Score in Patients With Ankylosing Spondylitis
NCT04507997	Not specified	RECRUITING	Angelman Syndrome Natural History Study
NCT04768803	Not specified	UNKNOWN	Ghrelin in Patients With a Rare Disease Associated With Intellectual Disability, and Hyperphagia, and/or Overweight, and/or Obesity
NCT05100810	Not specified	UNKNOWN	Angelman Syndrome Natural History Study-FAST UK
NCT05293184	Not specified	RECRUITING	The Global Angelman Syndrome Registry
NCT05637697	Not specified	COMPLETED	Angelman Syndrome Video Assessment (ASVA) Source Material Study
NCT05783791	Not specified	COMPLETED	Development of a Newborn Screening Assay for Angelman Syndrome and Prader-Willi Syndrome
NCT05945576	Not specified	RECRUITING	IDMet (RaDiCo Cohort) (RaDiCo-IDMet)