Atlas of Genetics and Cytogenetics in Oncology and Haematology


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AAAS (achalasia, adrenocortical insufficiency, alacrimia)

Identity

Other namesAAA
AAASb
ADRACALA
ADRACALIN
ALADIN
HGNC (Hugo) AAAS
LocusID (NCBI) 8086
Location 12q13.13
Location_base_pair Starts at 53701240 and ends at 53715412 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

External links

Nomenclature
HGNC (Hugo)AAAS   13666
Cards
Entrez_Gene (NCBI)AAAS  8086  achalasia, adrenocortical insufficiency, alacrimia
GeneCards (Weizmann)AAAS
Ensembl (Hinxton)ENSG00000094914 [Gene_View]  chr12:53701240-53715412 [Contig_View]  AAAS [Vega]
ICGC DataPortalENSG00000094914
cBioPortalAAAS
AceView (NCBI)AAAS
Genatlas (Paris)AAAS
WikiGenes8086
SOURCE (Princeton)NM_001173466 NM_015665
Genomic and cartography
GoldenPath (UCSC)AAAS  -  12q13.13   chr12:53701240-53715412 -  12q13.13   [Description]    (hg19-Feb_2009)
EnsemblAAAS - 12q13.13 [CytoView]
Mapping of homologs : NCBIAAAS [Mapview]
OMIM231550   605378   
Gene and transcription
Genbank (Entrez)AF226048 AJ289857 AK000833 AK094302 AK222509
RefSeq transcript (Entrez)NM_001173466 NM_015665
RefSeq genomic (Entrez)AC_000144 NC_000012 NC_018923 NG_016775 NT_029419 NW_001838059 NW_004929384
Consensus coding sequences : CCDS (NCBI)AAAS
Cluster EST : UnigeneHs.369144 [ NCBI ]
CGAP (NCI)Hs.369144
Alternative Splicing : Fast-db (Paris)GSHG0007506
Alternative Splicing GalleryENSG00000094914
Gene ExpressionAAAS [ NCBI-GEO ]     AAAS [ SEEK ]   AAAS [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NRG9 (Uniprot)
NextProtQ9NRG9  [Medical]
With graphics : InterProQ9NRG9
Splice isoforms : SwissVarQ9NRG9 (Swissvar)
Domaine pattern : Prosite (Expaxy)WD_REPEATS_1 (PS00678)    WD_REPEATS_2 (PS50082)    WD_REPEATS_REGION (PS50294)   
Domains : Interpro (EBI)WD40/YVTN_repeat-like_dom [organisation]   WD40_repeat [organisation]   WD40_repeat_CS [organisation]   WD40_repeat_dom [organisation]  
Related proteins : CluSTrQ9NRG9
Domain families : Pfam (Sanger)WD40 (PF00400)   
Domain families : Pfam (NCBI)pfam00400   
Domain families : Smart (EMBL)WD40 (SM00320)  
DMDM Disease mutations8086
Blocks (Seattle)Q9NRG9
Human Protein AtlasENSG00000094914 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasQ9NRG9
HPRD05646
IPIIPI00024143   IPI01022604   IPI01021618   IPI01022961   IPI00747361   
Protein Interaction databases
DIP (DOE-UCLA)Q9NRG9
IntAct (EBI)Q9NRG9
FunCoupENSG00000094914
BioGRIDAAAS
InParanoidQ9NRG9
Interologous Interaction database Q9NRG9
IntegromeDBAAAS
STRING (EMBL)AAAS
Ontologies - Pathways
Ontology : AmiGOmitotic cell cycle  molecular_function  nucleus  nuclear envelope  nuclear pore  nuclear pore  nucleolus  cytoplasm  centrosome  carbohydrate metabolic process  nucleocytoplasmic transport  mitotic nuclear envelope disassembly  learning  hexose transport  fertilization  regulation of glucose transport  protein transport  glucose transport  membrane  viral process  cytokine-mediated signaling pathway  nuclear membrane  small molecule metabolic process  regulation of nucleocytoplasmic transport  mRNA transport  transmembrane transport  
Ontology : EGO-EBImitotic cell cycle  molecular_function  nucleus  nuclear envelope  nuclear pore  nuclear pore  nucleolus  cytoplasm  centrosome  carbohydrate metabolic process  nucleocytoplasmic transport  mitotic nuclear envelope disassembly  learning  hexose transport  fertilization  regulation of glucose transport  protein transport  glucose transport  membrane  viral process  cytokine-mediated signaling pathway  nuclear membrane  small molecule metabolic process  regulation of nucleocytoplasmic transport  mRNA transport  transmembrane transport  
Pathways : KEGGRNA transport   
Protein Interaction DatabaseAAAS
Wikipedia pathwaysAAAS
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)AAAS
snp3D : Map Gene to Disease8086
SNP (GeneSNP Utah)AAAS
SNP : HGBaseAAAS
Genetic variants : HAPMAPAAAS
Exome VariantAAAS
1000_GenomesAAAS 
ICGC programENSG00000094914 
Somatic Mutations in Cancer : COSMICAAAS 
CONAN: Copy Number AnalysisAAAS 
Mutations and Diseases : HGMDAAAS
Genomic VariantsAAAS  AAAS [DGVbeta]
dbVarAAAS
ClinVarAAAS
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM231550    605378   
MedgenAAAS
GENETestsAAAS
Disease Genetic AssociationAAAS
Huge Navigator AAAS [HugePedia]  AAAS [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneAAAS
Homology/Alignments : Family Browser (UCSC)AAAS
Phylogenetic Trees/Animal Genes : TreeFamAAAS
Chemical/Protein Interactions : CTD8086
Chemical/Pharm GKB GenePA24361
Clinical trialAAAS
Cancer Resource (Charite)ENSG00000094914
Other databases
Probes
Litterature
PubMed51 Pubmed reference(s) in Entrez
CoreMineAAAS
iHOPAAAS
OncoSearchAAAS
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
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Jul 30 13:41:08 CEST 2014

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