AIRE autoimmune regulator

Information
Symbol
AIRE
Type
protein-coding
Description
autoimmune regulator
Entrez Gene ID
326
Genome
hg19
Position
chr21:45,705,759-45,718,531
Genome
hg38
Position
chr21:44,285,876-44,298,648
MIM
607358 OMIM
HGNC
HGNC:360 HGNC
Ensembl
ENSG00000160224 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 14 230
Likely pathogenic 0 198
Benign 0 150
Likely benign 0 1,088
Conflicting classifications of pathogenicity 0 60
not provided 1 10
Uncertain significance 0 654
Ranking
ClinVar
0
0
336
1,870
26
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Variant name Gene AA change CDS Japanese
frequency		 TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence		 Prediction
Entry Origin Type Annotation Entry Origin Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Gene symbol Chromosome Genomic start Genomic stop Strand Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
TypeID
SYNONYM AIRE1
SYNONYM APECED
SYNONYM APS1
SYNONYM APSI
SYNONYM PGA1
MIM 607358 OMIM
HGNC HGNC:360 HGNC
Ensembl ENSG00000160224 Ensembl
AllianceGenome HGNC:360
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000291582.6 hg38 chr21 44,285,876 44,298,648 12,773
ENST00000291582.6 hg19 chr21 45,705,759 45,718,531 12,773
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