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AAAS (aladin WD repeat nucleoporin)

Identity

Other namesAAA
AAASb
ADRACALA
ADRACALIN
ALADIN
GL003
HGNC (Hugo) AAAS
LocusID (NCBI) 8086
Atlas_Id 51360
Location 12q13.13  [Link to chromosome band 12q13]
Location_base_pair Starts at 53701240 and ends at 53715412 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
AAAS (12q13.13) / C15orf39 (15q24.2)AAAS (12q13.13) / FKBP6 (7q11.23)AAAS (12q13.13) / KDM2A (11q13.2)
AAAS (12q13.13) / MAOB (Xp11.3)AAAS (12q13.13) / ZNF414 (19p13.2)ATP2A2 (12q24.11) / AAAS (12q13.13)

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)AAAS   13666
Cards
Entrez_Gene (NCBI)AAAS  8086  aladin WD repeat nucleoporin
AliasesAAA; AAASb; ADRACALA; ADRACALIN; 
ALADIN; GL003
GeneCards (Weizmann)AAAS
Ensembl hg19 (Hinxton)ENSG00000094914 [Gene_View]  chr12:53701240-53715412 [Contig_View]  AAAS [Vega]
Ensembl hg38 (Hinxton)ENSG00000094914 [Gene_View]  chr12:53701240-53715412 [Contig_View]  AAAS [Vega]
ICGC DataPortalENSG00000094914
TCGA cBioPortalAAAS
AceView (NCBI)AAAS
Genatlas (Paris)AAAS
WikiGenes8086
SOURCE (Princeton)AAAS
Genomic and cartography
GoldenPath hg19 (UCSC)AAAS  -     chr12:53701240-53715412 -  12q13.13   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)AAAS  -     12q13.13   [Description]    (hg38-Dec_2013)
EnsemblAAAS - 12q13.13 [CytoView hg19]  AAAS - 12q13.13 [CytoView hg38]
Mapping of homologs : NCBIAAAS [Mapview hg19]  AAAS [Mapview hg38]
OMIM231550   605378   
Gene and transcription
Genbank (Entrez)AF226048 AJ289857 AK000833 AK094302 AK222509
RefSeq transcript (Entrez)NM_001173466 NM_015665
RefSeq genomic (Entrez)NC_000012 NC_018923 NG_016775 NT_029419 NW_004929384
Consensus coding sequences : CCDS (NCBI)AAAS
Cluster EST : UnigeneHs.369144 [ NCBI ]
CGAP (NCI)Hs.369144
Alternative Splicing GalleryENSG00000094914
Gene ExpressionAAAS [ NCBI-GEO ]   AAAS [ EBI - ARRAY_EXPRESS ]   AAAS [ SEEK ]   AAAS [ MEM ]
Gene Expression Viewer (FireBrowse)AAAS [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)8086
GTEX Portal (Tissue expression)AAAS
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NRG9 (Uniprot)
NextProtQ9NRG9  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9NRG9
Splice isoforms : SwissVarQ9NRG9 (Swissvar)
PhosPhoSitePlusQ9NRG9
Domaine pattern : Prosite (Expaxy)WD_REPEATS_1 (PS00678)    WD_REPEATS_2 (PS50082)    WD_REPEATS_REGION (PS50294)   
Domains : Interpro (EBI)WD40/YVTN_repeat-like_dom    WD40_repeat    WD40_repeat_CS    WD40_repeat_dom   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Domain families : Smart (EMBL)WD40 (SM00320)  
DMDM Disease mutations8086
Blocks (Seattle)AAAS
SuperfamilyQ9NRG9
Human Protein AtlasENSG00000094914
Peptide AtlasQ9NRG9
HPRD05646
IPIIPI00024143   IPI01022604   IPI01021618   IPI01022961   IPI00747361   
Protein Interaction databases
DIP (DOE-UCLA)Q9NRG9
IntAct (EBI)Q9NRG9
FunCoupENSG00000094914
BioGRIDAAAS
STRING (EMBL)AAAS
ZODIACAAAS
Ontologies - Pathways
QuickGOQ9NRG9
Ontology : AmiGOmolecular_function  nucleus  nuclear envelope  nuclear pore  nuclear pore  nucleoplasm  cytoplasm  centrosome  mRNA export from nucleus  tRNA export from nucleus  nucleocytoplasmic transport  mitotic nuclear envelope disassembly  learning  fertilization  regulation of glucose transport  protein transport  membrane  viral process  protein sumoylation  viral transcription  gene silencing by RNA  nuclear membrane  regulation of nucleocytoplasmic transport  intracellular transport of virus  regulation of cellular response to heat  
Ontology : EGO-EBImolecular_function  nucleus  nuclear envelope  nuclear pore  nuclear pore  nucleoplasm  cytoplasm  centrosome  mRNA export from nucleus  tRNA export from nucleus  nucleocytoplasmic transport  mitotic nuclear envelope disassembly  learning  fertilization  regulation of glucose transport  protein transport  membrane  viral process  protein sumoylation  viral transcription  gene silencing by RNA  nuclear membrane  regulation of nucleocytoplasmic transport  intracellular transport of virus  regulation of cellular response to heat  
Pathways : KEGGRNA transport   
NDEx NetworkAAAS
Atlas of Cancer Signalling NetworkAAAS
Wikipedia pathwaysAAAS
Orthology - Evolution
OrthoDB8086
GeneTree (enSembl)ENSG00000094914
Phylogenetic Trees/Animal Genes : TreeFamAAAS
Homologs : HomoloGeneAAAS
Homology/Alignments : Family Browser (UCSC)AAAS
Gene fusions - Rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerAAAS [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)AAAS
dbVarAAAS
ClinVarAAAS
1000_GenomesAAAS 
Exome Variant ServerAAAS
ExAC (Exome Aggregation Consortium)AAAS (select the gene name)
Genetic variants : HAPMAP8086
Genomic Variants (DGV)AAAS [DGVbeta]
Mutations
ICGC Data PortalAAAS 
TCGA Data PortalAAAS 
Broad Tumor PortalAAAS
OASIS PortalAAAS [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICAAAS 
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
BioMutasearch AAAS
DgiDB (Drug Gene Interaction Database)AAAS
DoCM (Curated mutations)AAAS (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)AAAS (select a term)
intoGenAAAS
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)12:53701240-53715412  ENSG00000094914
CONAN: Copy Number AnalysisAAAS 
Mutations and Diseases : HGMDAAAS
OMIM231550    605378   
MedgenAAAS
Genetic Testing Registry AAAS
NextProtQ9NRG9 [Medical]
TSGene8086
GENETestsAAAS
Huge Navigator AAAS [HugePedia]
snp3D : Map Gene to Disease8086
BioCentury BCIQAAAS
ClinGenAAAS
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD8086
Chemical/Pharm GKB GenePA24361
Clinical trialAAAS
Miscellaneous
canSAR (ICR)AAAS (select the gene name)
Probes
Litterature
PubMed51 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineAAAS
EVEXAAAS
GoPubMedAAAS
iHOPAAAS
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 19 18:34:19 CEST 2016

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