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AIRE

autoimmune regulator

This gene encodes a transcriptional regulator that forms nuclear bodies and interacts with the transcriptional coactivator CBP. At least three splice variant mRNAs products have been described including one which results in a premature stop codon and a transcript predicted to be a candidate for nuclear-mediated decay (NMD). Defects in this gene cause the rare autosomal-recessive systemic autoimmune disease termed autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED). [provided by RefSeq, Jul 2008].


  Gene Expression Pattern     Gene Network    dbSNP    OMIM  


TRANSCRIPTS LIST

5'/3'UTRs Partially Coding Exons Coding Exons Introns


Promoter 3'UTR

NM_000383; ENST00000291582.5

Gene: NM:NM_000383; ENST00000291582.5 EXON 1 EXON 1 EXON 2 EXON 2 EXON 3 EXON 3 EXON 4 EXON 4 EXON 5 EXON 5 EXON 6 EXON 6 EXON 7 EXON 7 EXON 8 EXON 8 EXON 9 EXON 9 EXON 10 EXON 10 EXON 11 EXON 11 EXON 12 EXON 12 EXON 13 EXON 13 EXON 14 EXON 14 INTRON 1 INTRON 2 INTRON 3 INTRON 4 INTRON 5 INTRON 6 INTRON 7 INTRON 8 INTRON 9 INTRON 10 INTRON 11 INTRON 12 INTRON 13
Promoter 3'UTR

ENST00000337909.4

Gene: NM:ENST00000337909.4 EXON 1 EXON 1 EXON 2 EXON 2 EXON 3 EXON 3 EXON 4 EXON 4 EXON 5 EXON 5 EXON 6 EXON 6 EXON 7 EXON 7 EXON 8 EXON 8 INTRON 1 INTRON 2 INTRON 3 INTRON 4 INTRON 5 INTRON 6 INTRON 7
Promoter 3'UTR

ENST00000397994.3

Gene: NM:ENST00000397994.3 EXON 1 EXON 1 EXON 2 EXON 2 EXON 3 EXON 3 EXON 4 EXON 4 EXON 5 EXON 5 EXON 6 EXON 6 EXON 7 EXON 7 INTRON 1 INTRON 2 INTRON 3 INTRON 4 INTRON 5 INTRON 6
Promoter 3'UTR

ENST00000530812.1

Gene: NM:ENST00000530812.1 EXON 1 EXON 1 EXON 2 EXON 2 EXON 3 EXON 3 EXON 4 EXON 4 EXON 5 EXON 5 EXON 6 EXON 6 EXON 7 EXON 7 EXON 8 EXON 8 EXON 9 EXON 9 EXON 10 EXON 10 EXON 11 EXON 11 EXON 12 EXON 12 INTRON 1 INTRON 2 INTRON 3 INTRON 4 INTRON 5 INTRON 6 INTRON 7 INTRON 8 INTRON 9 INTRON 10 INTRON 11
Promoter 3'UTR

ENST00000527919.1

Gene: NM:ENST00000527919.1 EXON 1 EXON 1 EXON 2 EXON 2 EXON 3 EXON 3 EXON 4 EXON 4 EXON 5 EXON 5 EXON 6 EXON 6 EXON 7 EXON 7 EXON 8 EXON 8 EXON 9 EXON 9 EXON 10 EXON 10 EXON 11 EXON 11 EXON 12 EXON 12 EXON 13 EXON 13 EXON 14 EXON 14 INTRON 1 INTRON 2 INTRON 3 INTRON 4 INTRON 5 INTRON 6 INTRON 7 INTRON 8 INTRON 9 INTRON 10 INTRON 11 INTRON 12 INTRON 13
Promoter 3'UTR

ENST00000468282.2

Gene: NM:ENST00000468282.2 EXON 1 EXON 1 EXON 2 EXON 2 EXON 3 EXON 3 EXON 4 EXON 4 EXON 5 EXON 5 EXON 6 EXON 6 EXON 7 EXON 7 EXON 8 EXON 8 EXON 9 EXON 9 INTRON 1 INTRON 2 INTRON 3 INTRON 4 INTRON 5 INTRON 6 INTRON 7 INTRON 8
Promoter 3'UTR

ENST00000355347.4

Gene: NM:ENST00000355347.4 EXON 1 EXON 1 EXON 2 EXON 2 EXON 3 EXON 3 EXON 4 EXON 4 EXON 5 EXON 5 EXON 6 EXON 6 EXON 7 EXON 7 EXON 8 EXON 8 INTRON 1 INTRON 2 INTRON 3 INTRON 4 INTRON 5 INTRON 6 INTRON 7
Promoter 3'UTR

ENST00000329347.4

Gene: NM:ENST00000329347.4 EXON 1 EXON 1 EXON 2 EXON 2 EXON 3 EXON 3 EXON 4 EXON 4 EXON 5 EXON 5 EXON 6 EXON 6 EXON 7 EXON 7 EXON 8 EXON 8 EXON 9 EXON 9 INTRON 1 INTRON 2 INTRON 3 INTRON 4 INTRON 5 INTRON 6 INTRON 7 INTRON 8





Updated on June 12, 2013