Human (GRCh37.p13)
Description

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

Gene Synonyms

AIRE1, APECED, APS1, APSI, PGA1

Location
About this transcript

This transcript has 14 exons, is annotated with 34 domains and features, is associated with 7761 variant alleles and maps to 476 oligo probes.

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
---
ENST00000527919.1AIRE-0042409No protein-
 
Retained intron
---
ENST00000337909.5AIRE-0061361No protein-
 
Retained intron
---
ENST00000397994.4AIRE-0071279No protein-
 
Retained intron
---
Statistics

Exons: 14, Coding exons: 14, Transcript length: 2,257 bps, Translation length: 545 residues

Uniprot

This transcript corresponds to the following Uniprot identifiers: O43918

CCDS

This transcript is a member of the Human CCDS set: CCDS13706

Version

ENST00000291582.5

Type

Protein coding

Annotation Method

Transcript where the Ensembl genebuild transcript and the Havana manual annotation have the same sequence, for every base pair. See article.

Alternative transcripts

This transcript corresponds to the following database identifiers:

Transcript having exact match between ENSEMBL and HAVANA:
OTTHUMT00000195842 (version 2)
GENCODE basic gene

This transcript is a member of the Gencode basic gene set.