Human (GRCh37.p13)
Description

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

Gene Synonyms

AIRE1, APECED, APS1, APSI, PGA1

Location

Chromosome 21: 45,705,721-45,718,531 forward strand.

GRCh37:CM000683.1

About this gene

This gene has 7 transcripts (splice variants), 4 paralogues and is associated with 6 phenotypes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeqFlags
ENST00000291582.5AIRE-0012257545aaENSP00000291582.5
 
Protein coding
CCDS13706O43918 NM_000383.3GENCODE basic
ENST00000355347.4AIRE-2021509338aaENSP00000347505.4
 
Protein coding
C9JL37 -GENCODE basic
ENST00000329347.4AIRE-2011427244aaENSP00000331055.4
 
Protein coding
C9JFR1 -GENCODE basic
ENST00000530812.1AIRE-0054306No protein-
 
Retained intron
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ENST00000527919.1AIRE-0042409No protein-
 
Retained intron
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ENST00000337909.5AIRE-0061361No protein-
 
Retained intron
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ENST00000397994.4AIRE-0071279No protein-
 
Retained intron
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