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.
Transcripts
Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
---|---|---|---|---|---|---|---|---|---|
ENST00000291582.5 | AIRE-001 | 2257 | 545aa | ENSP00000291582.5 | Protein coding | CCDS13706 | O43918 | NM_000383.3 | Ensembl Canonical, GENCODE basic, |
ENST00000355347.4 | AIRE-202 | 1509 | 338aa | ENSP00000347505.4 | Protein coding | C9JL37 | - | GENCODE basic, | |
ENST00000329347.4 | AIRE-201 | 1427 | 244aa | ENSP00000331055.4 | Protein coding | C9JFR1 | - | GENCODE basic, | |
ENST00000530812.1 | AIRE-005 | 4306 | No protein | - | Retained intron | - | - | - | |
ENST00000527919.1 | AIRE-004 | 2409 | No protein | - | Retained intron | - | - | - | |
ENST00000337909.5 | AIRE-006 | 1361 | No protein | - | Retained intron | - | - | - | |
ENST00000397994.4 | AIRE-007 | 1279 | No protein | - | Retained intron | - | - | - |