Atlas of Genetics and Cytogenetics in Oncology and Haematology


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ATXN1 (ataxin 1)

Identity

Alias_namesSCA1
spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1
Alias_symbol (synonym)D6S504E
ATX1
Other alias
HGNC (Hugo) ATXN1
LocusID (NCBI) 6310
Atlas_Id 56153
Location 6p22.3  [Link to chromosome band 6p22]
Location_base_pair Starts at 16299112 and ends at 16761490 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
ATXN1 (6p22.3) / ARG1 (6q23.2)ATXN1 (6p22.3) / ATXN1 (6p22.3)ATXN1 (6p22.3) / CFAP61 (20p11.23)
ATXN1 (6p22.3) / CGA (6q14.3)ATXN1 (6p22.3) / GAPVD1 (9q33.3)ATXN1 (6p22.3) / H1FX (3q21.3)
ATXN1 (6p22.3) / HMGCLL1 (6p12.1)ATXN1 (6p22.3) / LRBA (4q31.3)ATXN1 (6p22.3) / NEDD4L (18q21.31)
ATXN1 (6p22.3) / NFE2L1 (17q21.32)ATXN1 (6p22.3) / PCNX1 (14q24.2)ATXN1 (6p22.3) / PCTP (17q22)
ATXN1 (6p22.3) / SVOP (12q24.11)ATXN1 (6p22.3) / TBC1D12 (10q23.33)GOLGA4 (3p22.2) / ATXN1 (6p22.3)
NANOGNB (12p13.31) / ATXN1 (6p22.3)PTPN12 (7q11.23) / ATXN1 (6p22.3)RANBP9 (6p23) / ATXN1 (6p22.3)
SIK2 (11q23.1) / ATXN1 (6p22.3)SMU1 (9p21.1) / ATXN1 (6p22.3)SYT1 (12q21.2) / ATXN1 (6p22.3)

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

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 5 ]
  t(6;6)(p12;p22) ATXN1/HMGCLL1
t(6;6)(p22;p23) RANBP9/ATXN1
t(6;6)(p22;q14) ATXN1/CGA
t(6;6)(p22;q23) ATXN1/ARG1
t(6;17)(p22;q22) ATXN1/PCTP


External links

Nomenclature
HGNC (Hugo)ATXN1   10548
LRG (Locus Reference Genomic)LRG_863
Cards
Entrez_Gene (NCBI)ATXN1  6310  ataxin 1
AliasesATX1; D6S504E; SCA1
GeneCards (Weizmann)ATXN1
Ensembl hg19 (Hinxton)ENSG00000124788 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000124788 [Gene_View]  ENSG00000124788 [Sequence]  chr6:16299112-16761490 [Contig_View]  ATXN1 [Vega]
ICGC DataPortalENSG00000124788
TCGA cBioPortalATXN1
AceView (NCBI)ATXN1
Genatlas (Paris)ATXN1
WikiGenes6310
SOURCE (Princeton)ATXN1
Genetics Home Reference (NIH)ATXN1
Genomic and cartography
GoldenPath hg38 (UCSC)ATXN1  -     chr6:16299112-16761490 -  6p22.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ATXN1  -     6p22.3   [Description]    (hg19-Feb_2009)
EnsemblATXN1 - 6p22.3 [CytoView hg19]  ATXN1 - 6p22.3 [CytoView hg38]
Mapping of homologs : NCBIATXN1 [Mapview hg19]  ATXN1 [Mapview hg38]
OMIM164400   601556   
Gene and transcription
Genbank (Entrez)AA774255 AK311274 AK311649 BC010948 BC011026
RefSeq transcript (Entrez)NM_000332 NM_001128164 NM_001357857
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ATXN1
Cluster EST : UnigeneHs.682684 [ NCBI ]
CGAP (NCI)Hs.682684
Alternative Splicing GalleryENSG00000124788
Gene ExpressionATXN1 [ NCBI-GEO ]   ATXN1 [ EBI - ARRAY_EXPRESS ]   ATXN1 [ SEEK ]   ATXN1 [ MEM ]
Gene Expression Viewer (FireBrowse)ATXN1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6310
GTEX Portal (Tissue expression)ATXN1
Human Protein AtlasENSG00000124788-ATXN1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP54253   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP54253  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP54253
Splice isoforms : SwissVarP54253
PhosPhoSitePlusP54253
Domaine pattern : Prosite (Expaxy)AXH (PS51148)   
Domains : Interpro (EBI)Ataxin_AXH_dom    Ataxin_AXH_dom_sf    Capicua_tscrpt_rep_mod   
Domain families : Pfam (Sanger)ATXN-1_C (PF12547)    AXH (PF08517)   
Domain families : Pfam (NCBI)pfam12547    pfam08517   
Domain families : Smart (EMBL)AXH (SM00536)  
Conserved Domain (NCBI)ATXN1
DMDM Disease mutations6310
Blocks (Seattle)ATXN1
PDB (SRS)1OA8    2M41    4APT    4AQP    4J2J    4J2L   
PDB (PDBSum)1OA8    2M41    4APT    4AQP    4J2J    4J2L   
PDB (IMB)1OA8    2M41    4APT    4AQP    4J2J    4J2L   
PDB (RSDB)1OA8    2M41    4APT    4AQP    4J2J    4J2L   
Structural Biology KnowledgeBase1OA8    2M41    4APT    4AQP    4J2J    4J2L   
SCOP (Structural Classification of Proteins)1OA8    2M41    4APT    4AQP    4J2J    4J2L   
CATH (Classification of proteins structures)1OA8    2M41    4APT    4AQP    4J2J    4J2L   
SuperfamilyP54253
Human Protein Atlas [tissue]ENSG00000124788-ATXN1 [tissue]
Peptide AtlasP54253
HPRD03333
IPIIPI00060299   IPI00333836   IPI00903319   
Protein Interaction databases
DIP (DOE-UCLA)P54253
IntAct (EBI)P54253
FunCoupENSG00000124788
BioGRIDATXN1
STRING (EMBL)ATXN1
ZODIACATXN1
Ontologies - Pathways
QuickGOP54253
Ontology : AmiGOnegative regulation of transcription by RNA polymerase II  DNA binding  protein binding  protein binding  nucleus  nucleoplasm  nucleoplasm  nucleolus  nucleolus  cytoplasm  cytosol  RNA processing  brain development  brain development  learning  learning  memory  memory  protein C-terminus binding  protein C-terminus binding  poly(U) RNA binding  poly(U) RNA binding  nuclear matrix  poly(G) binding  social behavior  social behavior  nuclear inclusion body  identical protein binding  identical protein binding  protein self-association  protein self-association  negative regulation of transcription, DNA-templated  lung alveolus development  nuclear export  
Ontology : EGO-EBInegative regulation of transcription by RNA polymerase II  DNA binding  protein binding  protein binding  nucleus  nucleoplasm  nucleoplasm  nucleolus  nucleolus  cytoplasm  cytosol  RNA processing  brain development  brain development  learning  learning  memory  memory  protein C-terminus binding  protein C-terminus binding  poly(U) RNA binding  poly(U) RNA binding  nuclear matrix  poly(G) binding  social behavior  social behavior  nuclear inclusion body  identical protein binding  identical protein binding  protein self-association  protein self-association  negative regulation of transcription, DNA-templated  lung alveolus development  nuclear export  
NDEx NetworkATXN1
Atlas of Cancer Signalling NetworkATXN1
Wikipedia pathwaysATXN1
Orthology - Evolution
OrthoDB6310
GeneTree (enSembl)ENSG00000124788
Phylogenetic Trees/Animal Genes : TreeFamATXN1
HOVERGENP54253
HOGENOMP54253
Homologs : HomoloGeneATXN1
Homology/Alignments : Family Browser (UCSC)ATXN1
Gene fusions - Rearrangements
Fusion : QuiverATXN1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerATXN1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ATXN1
dbVarATXN1
ClinVarATXN1
1000_GenomesATXN1 
Exome Variant ServerATXN1
ExAC (Exome Aggregation Consortium)ENSG00000124788
GNOMAD BrowserENSG00000124788
Varsome BrowserATXN1
Genetic variants : HAPMAP6310
Genomic Variants (DGV)ATXN1 [DGVbeta]
DECIPHERATXN1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisATXN1 
Mutations
ICGC Data PortalATXN1 
TCGA Data PortalATXN1 
Broad Tumor PortalATXN1
OASIS PortalATXN1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICATXN1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDATXN1
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 ATXN1
DgiDB (Drug Gene Interaction Database)ATXN1
DoCM (Curated mutations)ATXN1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ATXN1 (select a term)
intoGenATXN1
Cancer3DATXN1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM164400    601556   
Orphanet13772   
DisGeNETATXN1
MedgenATXN1
Genetic Testing Registry ATXN1
NextProtP54253 [Medical]
TSGene6310
GENETestsATXN1
Target ValidationATXN1
Huge Navigator ATXN1 [HugePedia]
snp3D : Map Gene to Disease6310
BioCentury BCIQATXN1
ClinGenATXN1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD6310
Chemical/Pharm GKB GenePA34958
Clinical trialATXN1
Miscellaneous
canSAR (ICR)ATXN1 (select the gene name)
Probes
Litterature
PubMed132 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineATXN1
EVEXATXN1
GoPubMedATXN1
iHOPATXN1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Nov 6 10:53:13 CET 2018

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