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ATXN10 (ataxin 10)

Identity

Alias_namesSCA10
spinocerebellar ataxia 10
Alias_symbol (synonym)E46L
FLJ37990
Other aliasHUMEEP
HGNC (Hugo) ATXN10
LocusID (NCBI) 25814
Atlas_Id 60656
Location 22q13.31  [Link to chromosome band 22q13]
Location_base_pair Starts at 45671798 and ends at 45845307 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ATXN10 (22q13.31) / APPL1 (3p14.3)ATXN10 (22q13.31) / ATXN10 (22q13.31)ATXN10 (22q13.31) / FBLN1 (22q13.31)
DDX17 (22q13.1) / ATXN10 (22q13.31)GTSE1 (22q13.31) / ATXN10 (22q13.31)LIMK2 (22q12.2) / ATXN10 (22q13.31)
MIRLET7BHG (22q13.31) / ATXN10 (22q13.31)TNRC6B (22q13.1) / ATXN10 (22q13.31)MIRLET7BHG ATXN10
LIMK2 ATXN10GTSE1 ATXN10TNRC6B ATXN10
ATXN10 APPL1ATXN10 FBLN1

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)ATXN10   10549
Cards
Entrez_Gene (NCBI)ATXN10  25814  ataxin 10
AliasesE46L; HUMEEP; SCA10
GeneCards (Weizmann)ATXN10
Ensembl hg19 (Hinxton)ENSG00000130638 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000130638 [Gene_View]  chr22:45671798-45845307 [Contig_View]  ATXN10 [Vega]
ICGC DataPortalENSG00000130638
TCGA cBioPortalATXN10
AceView (NCBI)ATXN10
Genatlas (Paris)ATXN10
WikiGenes25814
SOURCE (Princeton)ATXN10
Genetics Home Reference (NIH)ATXN10
Genomic and cartography
GoldenPath hg38 (UCSC)ATXN10  -     chr22:45671798-45845307 +  22q13.31   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ATXN10  -     22q13.31   [Description]    (hg19-Feb_2009)
EnsemblATXN10 - 22q13.31 [CytoView hg19]  ATXN10 - 22q13.31 [CytoView hg38]
Mapping of homologs : NCBIATXN10 [Mapview hg19]  ATXN10 [Mapview hg38]
OMIM603516   611150   
Gene and transcription
Genbank (Entrez)AF086923 AF119662 AK025734 AK095309 AK294348
RefSeq transcript (Entrez)NM_001167621 NM_013236
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ATXN10
Cluster EST : UnigeneHs.475125 [ NCBI ]
CGAP (NCI)Hs.475125
Alternative Splicing GalleryENSG00000130638
Gene ExpressionATXN10 [ NCBI-GEO ]   ATXN10 [ EBI - ARRAY_EXPRESS ]   ATXN10 [ SEEK ]   ATXN10 [ MEM ]
Gene Expression Viewer (FireBrowse)ATXN10 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)25814
GTEX Portal (Tissue expression)ATXN10
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UBB4   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9UBB4  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9UBB4
Splice isoforms : SwissVarQ9UBB4
PhosPhoSitePlusQ9UBB4
Domains : Interpro (EBI)ARM-like    ARM-type_fold    Ataxin-10_domain   
Domain families : Pfam (Sanger)Atx10homo_assoc (PF09759)   
Domain families : Pfam (NCBI)pfam09759   
Conserved Domain (NCBI)ATXN10
DMDM Disease mutations25814
Blocks (Seattle)ATXN10
SuperfamilyQ9UBB4
Human Protein AtlasENSG00000130638
Peptide AtlasQ9UBB4
HPRD04624
IPIIPI01019005   IPI00940340   IPI00889628   IPI00940152   IPI00889588   IPI00913912   
Protein Interaction databases
DIP (DOE-UCLA)Q9UBB4
IntAct (EBI)Q9UBB4
FunCoupENSG00000130638
BioGRIDATXN10
STRING (EMBL)ATXN10
ZODIACATXN10
Ontologies - Pathways
QuickGOQ9UBB4
Ontology : AmiGOprotein binding  extracellular space  cytoplasm  cytosol  plasma membrane  nervous system development  membrane  enzyme binding  dendrite  neuron projection development  identical protein binding  neuronal cell body  perinuclear region of cytoplasm  cilium assembly  protein homotrimerization  
Ontology : EGO-EBIprotein binding  extracellular space  cytoplasm  cytosol  plasma membrane  nervous system development  membrane  enzyme binding  dendrite  neuron projection development  identical protein binding  neuronal cell body  perinuclear region of cytoplasm  cilium assembly  protein homotrimerization  
NDEx NetworkATXN10
Atlas of Cancer Signalling NetworkATXN10
Wikipedia pathwaysATXN10
Orthology - Evolution
OrthoDB25814
GeneTree (enSembl)ENSG00000130638
Phylogenetic Trees/Animal Genes : TreeFamATXN10
HOVERGENQ9UBB4
HOGENOMQ9UBB4
Homologs : HomoloGeneATXN10
Homology/Alignments : Family Browser (UCSC)ATXN10
Gene fusions - Rearrangements
Fusion: TCGAMIRLET7BHG ATXN10
Fusion: TCGALIMK2 ATXN10
Fusion: TCGAGTSE1 ATXN10
Fusion: TCGATNRC6B ATXN10
Fusion: TCGAATXN10 APPL1
Fusion: TCGAATXN10 FBLN1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerATXN10 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ATXN10
dbVarATXN10
ClinVarATXN10
1000_GenomesATXN10 
Exome Variant ServerATXN10
ExAC (Exome Aggregation Consortium)ATXN10 (select the gene name)
Genetic variants : HAPMAP25814
Genomic Variants (DGV)ATXN10 [DGVbeta]
DECIPHERATXN10 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisATXN10 
Mutations
ICGC Data PortalATXN10 
TCGA Data PortalATXN10 
Broad Tumor PortalATXN10
OASIS PortalATXN10 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICATXN10  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDATXN10
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)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch ATXN10
DgiDB (Drug Gene Interaction Database)ATXN10
DoCM (Curated mutations)ATXN10 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ATXN10 (select a term)
intoGenATXN10
Cancer3DATXN10(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM603516    611150   
Orphanet13778   
MedgenATXN10
Genetic Testing Registry ATXN10
NextProtQ9UBB4 [Medical]
TSGene25814
GENETestsATXN10
Target ValidationATXN10
Huge Navigator ATXN10 [HugePedia]
snp3D : Map Gene to Disease25814
BioCentury BCIQATXN10
ClinGenATXN10
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD25814
Chemical/Pharm GKB GenePA34959
Clinical trialATXN10
Miscellaneous
canSAR (ICR)ATXN10 (select the gene name)
Probes
Litterature
PubMed57 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineATXN10
EVEXATXN10
GoPubMedATXN10
iHOPATXN10
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 15:39:18 CEST 2017

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