Atlas of Genetics and Cytogenetics in Oncology and Haematology


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AIRE (autoimmune regulator)

Identity

Alias_namesAPECED
autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy)
Alias_symbol (synonym)PGA1
APS1
HGNC (Hugo) AIRE
LocusID (NCBI) 326
Atlas_Id 49934
Location 21q22.3  [Link to chromosome band 21q22]
Location_base_pair Starts at 45705721 and ends at 45718102 bp from pter ( according to hg19-Feb_2009)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)AIRE   360
LRG (Locus Reference Genomic)LRG_18
Cards
Entrez_Gene (NCBI)AIRE  326  autoimmune regulator
AliasesAIRE1; APECED; APS1; APSI; 
PGA1
GeneCards (Weizmann)AIRE
Ensembl hg19 (Hinxton)ENSG00000160224 [Gene_View]  chr21:45705721-45718102 [Contig_View]  AIRE [Vega]
Ensembl hg38 (Hinxton)ENSG00000160224 [Gene_View]  chr21:45705721-45718102 [Contig_View]  AIRE [Vega]
ICGC DataPortalENSG00000160224
TCGA cBioPortalAIRE
AceView (NCBI)AIRE
Genatlas (Paris)AIRE
WikiGenes326
SOURCE (Princeton)AIRE
Genetics Home Reference (NIH)AIRE
Genomic and cartography
GoldenPath hg19 (UCSC)AIRE  -     chr21:45705721-45718102 +  21q22.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)AIRE  -     21q22.3   [Description]    (hg38-Dec_2013)
EnsemblAIRE - 21q22.3 [CytoView hg19]  AIRE - 21q22.3 [CytoView hg38]
Mapping of homologs : NCBIAIRE [Mapview hg19]  AIRE [Mapview hg38]
OMIM240300   607358   
Gene and transcription
Genbank (Entrez)AB006682 AB006683 AB006685 AK309572 BC137268
RefSeq transcript (Entrez)NM_000383 NM_000658 NM_000659
RefSeq genomic (Entrez)NC_000021 NC_018932 NG_009556 NT_011512 NW_004929427
Consensus coding sequences : CCDS (NCBI)AIRE
Cluster EST : UnigeneHs.129829 [ NCBI ]
CGAP (NCI)Hs.129829
Alternative Splicing GalleryENSG00000160224
Gene ExpressionAIRE [ NCBI-GEO ]   AIRE [ EBI - ARRAY_EXPRESS ]   AIRE [ SEEK ]   AIRE [ MEM ]
Gene Expression Viewer (FireBrowse)AIRE [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)326
GTEX Portal (Tissue expression)AIRE
Protein : pattern, domain, 3D structure
UniProt/SwissProtO43918   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO43918  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO43918
Splice isoforms : SwissVarO43918
PhosPhoSitePlusO43918
Domaine pattern : Prosite (Expaxy)HSR (PS51414)    SAND (PS50864)    ZF_PHD_1 (PS01359)    ZF_PHD_2 (PS50016)   
Domains : Interpro (EBI)AIRE    HSR_dom    SAND_dom    SAND_dom-like    Zinc_finger_PHD-type_CS    Znf_FYVE_PHD    Znf_PHD    Znf_PHD-finger    Znf_RING/FYVE/PHD   
Domain families : Pfam (Sanger)PHD (PF00628)    SAND (PF01342)    Sp100 (PF03172)   
Domain families : Pfam (NCBI)pfam00628    pfam01342    pfam03172   
Domain families : Smart (EMBL)PHD (SM00249)  SAND (SM00258)  
Conserved Domain (NCBI)AIRE
DMDM Disease mutations326
Blocks (Seattle)AIRE
PDB (SRS)1XWH    2KE1    2KFT    2LRI   
PDB (PDBSum)1XWH    2KE1    2KFT    2LRI   
PDB (IMB)1XWH    2KE1    2KFT    2LRI   
PDB (RSDB)1XWH    2KE1    2KFT    2LRI   
Structural Biology KnowledgeBase1XWH    2KE1    2KFT    2LRI   
SCOP (Structural Classification of Proteins)1XWH    2KE1    2KFT    2LRI   
CATH (Classification of proteins structures)1XWH    2KE1    2KFT    2LRI   
SuperfamilyO43918
Human Protein AtlasENSG00000160224
Peptide AtlasO43918
HPRD06301
IPIIPI00015149   IPI00480202   IPI00031178   IPI00031188   
Protein Interaction databases
DIP (DOE-UCLA)O43918
IntAct (EBI)O43918
FunCoupENSG00000160224
BioGRIDAIRE
STRING (EMBL)AIRE
ZODIACAIRE
Ontologies - Pathways
QuickGOO43918
Ontology : AmiGORNA 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  nucleus  cytoplasm  regulation of transcription, DNA-templated  transcription from RNA polymerase II promoter  regulation of translation  immune response  humoral immune response  zinc ion binding  histone binding  identical protein binding  transcription regulatory region DNA binding  negative thymic T cell selection  translation regulator activity  positive regulation of transcription, DNA-templated  positive regulation of transcription from RNA polymerase II promoter  
Ontology : EGO-EBIRNA 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  nucleus  cytoplasm  regulation of transcription, DNA-templated  transcription from RNA polymerase II promoter  regulation of translation  immune response  humoral immune response  zinc ion binding  histone binding  identical protein binding  transcription regulatory region DNA binding  negative thymic T cell selection  translation regulator activity  positive regulation of transcription, DNA-templated  positive regulation of transcription from RNA polymerase II promoter  
Pathways : KEGGUbiquitin mediated proteolysis    Primary immunodeficiency   
NDEx NetworkAIRE
Atlas of Cancer Signalling NetworkAIRE
Wikipedia pathwaysAIRE
Orthology - Evolution
OrthoDB326
GeneTree (enSembl)ENSG00000160224
Phylogenetic Trees/Animal Genes : TreeFamAIRE
HOVERGENO43918
HOGENOMO43918
Homologs : HomoloGeneAIRE
Homology/Alignments : Family Browser (UCSC)AIRE
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerAIRE [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)AIRE
dbVarAIRE
ClinVarAIRE
1000_GenomesAIRE 
Exome Variant ServerAIRE
ExAC (Exome Aggregation Consortium)AIRE (select the gene name)
Genetic variants : HAPMAP326
Genomic Variants (DGV)AIRE [DGVbeta]
DECIPHER (Syndromes)21:45705721-45718102  ENSG00000160224
CONAN: Copy Number AnalysisAIRE 
Mutations
ICGC Data PortalAIRE 
TCGA Data PortalAIRE 
Broad Tumor PortalAIRE
OASIS PortalAIRE [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICAIRE  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDAIRE
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Mendelian genes
LOVD (Leiden Open Variation Database)**PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database
BioMutasearch AIRE
DgiDB (Drug Gene Interaction Database)AIRE
DoCM (Curated mutations)AIRE (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)AIRE (select a term)
intoGenAIRE
Cancer3DAIRE(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM240300    607358   
Orphanet3035   
MedgenAIRE
Genetic Testing Registry AIRE
NextProtO43918 [Medical]
TSGene326
GENETestsAIRE
Huge Navigator AIRE [HugePedia]
snp3D : Map Gene to Disease326
BioCentury BCIQAIRE
ClinGenAIRE
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD326
Chemical/Pharm GKB GenePA24654
Clinical trialAIRE
Miscellaneous
canSAR (ICR)AIRE (select the gene name)
Probes
Litterature
PubMed155 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineAIRE
EVEXAIRE
GoPubMedAIRE
iHOPAIRE
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri Nov 18 19:30:33 CET 2016

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