Atlas of Genetics and Cytogenetics in Oncology and Haematology


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Taking over the Atlas
Dear Colleagues,
The Atlas, once more, is in great danger, and I will have to proceed to a collective economic lay-off of all the team involved in the Atlas before the begining of April 2015 (a foundation having suddenly withdrawn its commitment to support the Atlas). I ask you herein if any Scientific Society (a Society of Cytogenetics, of Clinical Genetics, of Hematology, or a Cancer Society, or any other...), any University and/or Hospital, any Charity, or any database would be interested in taking over the Atlas, in whole or in part. If taking charge of the whole lot is too big, a consortium of various actors could be the solution (I am myself trying to find partners). Could you please spread the information, contact the relevant authorities, and find partners.
Survival of the Atlas will be critically dependant upon your ability to find solutions (and urgently!).
Kind regards.
Jean-Loup Huret jlhuret@AtlasGeneticsOncology.org
Donations are also welcome
If each casual visitor gives 3 Euros or Dollars, the Atlas is saved in a week !
If each professional gives 100 Euros or Dollars once a year (now), the Atlas is saved in 2 weeks !
Don't let the Atlas imminent demise
Note: we send fiscal receipts for donations equal or above 50 Euros or Dollars

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AIRE (autoimmune regulator)

Identity

Other namesAIRE1
APECED
APS1
APSI
PGA1
HGNC (Hugo) AIRE
LocusID (NCBI) 326
Location 21q22.3
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
Cards
Entrez_Gene (NCBI)AIRE  326  autoimmune regulator
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
cBioPortalAIRE
AceView (NCBI)AIRE
Genatlas (Paris)AIRE
WikiGenes326
SOURCE (Princeton)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 : Fast-db (Paris)GSHG0019533
Alternative Splicing GalleryENSG00000160224
Gene ExpressionAIRE [ NCBI-GEO ]     AIRE [ SEEK ]   AIRE [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO43918 (Uniprot)
NextProtO43918  [Medical]
With graphics : InterProO43918
Splice isoforms : SwissVarO43918 (Swissvar)
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   
Related proteins : CluSTrO43918
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)  
DMDM Disease mutations326
Blocks (Seattle)O43918
PDB (SRS)1XWH    2KE1    2KFT    2LRI   
PDB (PDBSum)1XWH    2KE1    2KFT    2LRI   
PDB (IMB)1XWH    2KE1    2KFT    2LRI   
PDB (RSDB)1XWH    2KE1    2KFT    2LRI   
Human Protein AtlasENSG00000160224
Peptide AtlasO43918
HPRD06301
IPIIPI00015149   IPI00480202   IPI00031178   IPI00031188   
Protein Interaction databases
DIP (DOE-UCLA)O43918
IntAct (EBI)O43918
FunCoupENSG00000160224
BioGRIDAIRE
IntegromeDBAIRE
STRING (EMBL)AIRE
Ontologies - Pathways
QuickGOO43918
Ontology : AmiGORNA polymerase II regulatory region sequence-specific DNA binding  RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription  chromatin binding  protein binding  nucleus  cytoplasm  transcription, DNA-templated  regulation of transcription, DNA-templated  regulation of translation  immune response  humoral immune response  zinc ion binding  histone binding  identical protein binding  transcription regulatory region DNA binding  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  RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription  chromatin binding  protein binding  nucleus  cytoplasm  transcription, DNA-templated  regulation of transcription, DNA-templated  regulation of translation  immune response  humoral immune response  zinc ion binding  histone binding  identical protein binding  transcription regulatory region DNA binding  translation regulator activity  positive regulation of transcription, DNA-templated  positive regulation of transcription from RNA polymerase II promoter  
Pathways : KEGGUbiquitin mediated proteolysis    Primary immunodeficiency   
Protein Interaction DatabaseAIRE
DoCM (Curated mutations)AIRE
Wikipedia pathwaysAIRE
Gene fusion - rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerAIRE [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)AIRE
dbVarAIRE
ClinVarAIRE
1000_GenomesAIRE 
Exome Variant ServerAIRE
SNP (GeneSNP Utah)AIRE
SNP : HGBaseAIRE
Genetic variants : HAPMAPAIRE
Genomic Variants (DGV)AIRE [DGVbeta]
Mutations
ICGC Data PortalENSG00000160224 
Somatic Mutations in Cancer : COSMICAIRE 
CONAN: Copy Number AnalysisAIRE 
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
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)21:45705721-45718102
Mutations and Diseases : HGMDAIRE
OMIM240300    607358   
MedgenAIRE
NextProtO43918 [Medical]
GENETestsAIRE
Disease Genetic AssociationAIRE
Huge Navigator AIRE [HugePedia]  AIRE [HugeCancerGEM]
snp3D : Map Gene to Disease326
DGIdb (Drug Gene Interaction db)AIRE
General knowledge
Homologs : HomoloGeneAIRE
Homology/Alignments : Family Browser (UCSC)AIRE
Phylogenetic Trees/Animal Genes : TreeFamAIRE
Chemical/Protein Interactions : CTD326
Chemical/Pharm GKB GenePA24654
Clinical trialAIRE
Cancer Resource (Charite)ENSG00000160224
Other databases
Probes
Litterature
PubMed143 Pubmed reference(s) in Entrez
CoreMineAIRE
GoPubMedAIRE
iHOPAIRE
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated02-2015Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Mar 28 14:41:10 CET 2015

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For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.