Advanced notice of Ensembl Tools maintenance
Please note that due to planned maintenance, Ensembl Tools will be unavailable from Tuesday, September 9, at 08:30 AM BST until Wednesday, September 10, at 08:30 AM BST.
Jobs submitted during the maintenance window will be queued and processed once maintenance is complete. We apologise for the inconvenience.

Human (GRCh38.p14)
Description

autoimmune regulator [Source:HGNC Symbol;Acc:HGNC:360]

Gene Synonyms

APECED, APS1, PGA1

Location
About this transcript

This transcript has 14 exons, is annotated with 46 domains and features, is associated with 7983 variant alleles and maps to 479 oligo probes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeq MatchFlags
ENST00000291582.6AIRE-2012690545aaENSP00000291582.5
 
Protein coding
CCDS13706O43918-1 NM_000383.4MANE SelectEnsembl CanonicalGENCODE PrimaryGENCODE BasicAPPRIS P2TSL:1
ENST00000966178.1AIRE-2062678544aaENSP00000636237.1
 
Protein coding
--GENCODE PrimaryGENCODE BasicAPPRIS ALT2
ENST00000530812.5AIRE-2054306No protein-
 
Retained intron
--TSL:2
ENST00000527919.5AIRE-2042409No protein-
 
Retained intron
--TSL:2
ENST00000337909.5AIRE-2021361No protein-
 
Retained intron
--TSL:1
ENST00000397994.8AIRE-2031279No protein-
 
Retained intron
--TSL:5

Protein domains for ENSP00000291582.5