PAX6-AS1

Summary

PAX6-AS1 (PAX6 antisense RNA 1, HGNC:53448) is a long non-coding RNA gene on chromosome 11p13.

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:53448
Approved symbol	PAX6-AS1
Name	PAX6 antisense RNA 1
Location	11p13
Locus type	RNA, long non-coding
Status	Approved
Entrez	440034
RNAcentral	URS000075BC8F — lncRNA, 1656 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

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000041362 (11:31818024 C>A), RS1000071746 (11:31879726 A>C), RS1000079323 (11:31824966 A>C), RS1000149151 (11:31842374 CT>C,CTT), RS1000170697 (11:31839686 A>G), RS1000202090 (11:31878288 C>A), RS1000203341 (11:31839931 T>C), RS1000236694 (11:31882823 A>C), RS1000250713 (11:31842173 A>G), RS1000300934 (11:31824692 T>TGG), RS1000334878 (11:31836426 A>G), RS1000339833 (11:31871231 G>A,C), RS1000358941 (11:31872908 A>T), RS1000369598 (11:31822748 A>G), RS1000456452 (11:31859878 A>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

Clinical trials (associated diseases)

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