Gene: AIRE ENSG00000160224

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

Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000291582.5	AIRE-001	2257	545aa	ENSP00000291582.5	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS13706	O43918	NM_000383.3	A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical, The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000355347.4	AIRE-202	1509	338aa	ENSP00000347505.4	Gene/transcipt that contains an open reading frame (ORF).Protein coding		C9JL37	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000329347.4	AIRE-201	1427	244aa	ENSP00000331055.4	Gene/transcipt that contains an open reading frame (ORF).Protein coding		C9JFR1	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000530812.1	AIRE-005	4306	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000527919.1	AIRE-004	2409	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000337909.5	AIRE-006	1361	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000397994.4	AIRE-007	1279	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-

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Gene: AIRE ENSG00000160224

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Gene: AIRE ENSG00000160224

Summary