Hs04065101_cn

• Gene Symbol: AIRE
• Assay Reference Genome Location: Chr.21:44291645 on build GRCh38
• Cytoband: 21q22.3

Target Gene Details

• Entrez Gene ID: 326
• Gene Name: autoimmune regulator
• Gene Aliases: AIRE1, APECED, APS1, APSI, PGA1
• Location: Chr.21:44285838-44298219 on Build GRCh38
• Assay Gene Location: Within Intron 8

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
AIRE	NM_000383.3			NP_000374.1
	AB006682.1			BAA23988.1
	AB006683.1			BAA23989.1
	AB006685.1			BAA23993.1
	AK309572.1
	BC137268.1
	BC137270.1
	Z97990.1			CAB10790.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv526673	Chr.21:44291319 - 44303501 on Build GRCh38	Loss	AIRE PFKL
nsv953646	Chr.21:44279118 - 44523117 on Build GRCh38	Deletion	C21orf2 TSPEAR LRRC3-AS1 AIRE PFKL TSPEAR-AS1 LRRC3 TRPM2-AS TSPEAR-AS2 TRPM2 LOC100505727
esv2723638	Chr.21:44249174 - 44593709 on Build GRCh38	Deletion	C21orf2 KRTAP10-6 PFKL TSPEAR-AS1 KRTAP10-1 KRTAP10-3 LRRC3 KRTAP10-4 KRTAP10-5 TSPEAR LRRC3-AS1 AIRE TRPM2-AS KRTAP10-2 TSPEAR-AS2 TRPM2 DNMT3L LOC100505727 LOC105372833
nsv509800	Chr.21:44284048 - 44471571 on Build GRCh38	Insertion	C21orf2 LRRC3-AS1 AIRE PFKL LRRC3 TRPM2-AS TRPM2
nsv587774	Chr.21:44283777 - 44306907 on Build GRCh38	Loss	AIRE PFKL
nsv587740	Chr.21:44209682 - 44429981 on Build GRCh38	Loss	C21orf2 AIRE PFKL TRPM2-AS TRPM2 DNMT3L ICOSLG LOC105372833
esv33817	Chr.21:43749531 - 44647625 on Build GRCh38	Loss	C21orf2 TRAPPC10 KRTAP10-10 KRTAP10-6 PFKL TSPEAR-AS1 KRTAP10-3 KRTAP10-4 AGPAT3 LRRC3-AS1 KRTAP10-11 TRPM2-AS C21orf33 AATBC KRTAP10-2 PDXK PWP2 KRTAP10-1 LRRC3 RRP1 KRTAP10-8 ICOSLG KRTAP10-5 CSTB KRTAP10-9 TSPEAR AIRE KRTAP10-7 TSPEAR-AS2 TRPM2 DNMT3L LOC100505727 LOC105372833

More Information

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Gene Ontology Categories:

Process(es)

regulation of transcription, DNA-templated
transcription from RNA polymerase II promoter
regulation of translation
immune response
humoral immune response
negative thymic T cell selection
positive regulation of transcription, DNA-templated
positive regulation of transcription from RNA polymerase II promoter

Function(s)

RNA polymerase II regulatory region sequence-specific DNA binding
transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding
chromatin binding
transcription cofactor activity
protein binding
zinc ion binding
histone binding
identical protein binding
transcription regulatory region DNA binding
translation regulator activity