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ATXN7 (ataxin 7)

Identity

Alias_namesSCA7
spinocerebellar ataxia 7 (olivopontocerebellar atrophy with retinal degeneration)
Alias_symbol (synonym)OPCA3
ADCAII
Other alias
HGNC (Hugo) ATXN7
LocusID (NCBI) 6314
Atlas_Id 54145
Location 3p14.1  [Link to chromosome band 3p14]
Location_base_pair Starts at 63864557 and ends at 64003460 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ATXN7 (3p14.1) / ARF1 (1q42.13)ATXN7 (3p14.1) / CP (3q24)ATXN7 (3p14.1) / EPS8 (12p12.3)
ATXN7 (3p14.1) / THOC7 (3p14.1)BCAS3 (17q23.2) / ATXN7 (3p14.1)CENPV (17p11.2) / ATXN7 (3p14.1)
LIPA (10q23.31) / ATXN7 (3p14.1)RAD51C (17q22) / ATXN7 (3p14.1)SNTG1 (8q11.21) / ATXN7 (3p14.1)
TRA () / ATXN7 (3p14.1)

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)ATXN7   10560
LRG (Locus Reference Genomic)LRG_866
Cards
Entrez_Gene (NCBI)ATXN7  6314  ataxin 7
AliasesADCAII; OPCA3; SCA7
GeneCards (Weizmann)ATXN7
Ensembl hg19 (Hinxton)ENSG00000163635 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000163635 [Gene_View]  chr3:63864557-64003460 [Contig_View]  ATXN7 [Vega]
ICGC DataPortalENSG00000163635
TCGA cBioPortalATXN7
AceView (NCBI)ATXN7
Genatlas (Paris)ATXN7
WikiGenes6314
SOURCE (Princeton)ATXN7
Genetics Home Reference (NIH)ATXN7
Genomic and cartography
GoldenPath hg38 (UCSC)ATXN7  -     chr3:63864557-64003460 +  3p14.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ATXN7  -     3p14.1   [Description]    (hg19-Feb_2009)
EnsemblATXN7 - 3p14.1 [CytoView hg19]  ATXN7 - 3p14.1 [CytoView hg38]
Mapping of homologs : NCBIATXN7 [Mapview hg19]  ATXN7 [Mapview hg38]
OMIM164500   607640   
Gene and transcription
Genbank (Entrez)AA398030 AF032103 AF032104 AF032105 AJ000517
RefSeq transcript (Entrez)NM_000333 NM_001128149 NM_001177387
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ATXN7
Cluster EST : UnigeneHs.476595 [ NCBI ]
CGAP (NCI)Hs.476595
Alternative Splicing GalleryENSG00000163635
Gene ExpressionATXN7 [ NCBI-GEO ]   ATXN7 [ EBI - ARRAY_EXPRESS ]   ATXN7 [ SEEK ]   ATXN7 [ MEM ]
Gene Expression Viewer (FireBrowse)ATXN7 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6314
GTEX Portal (Tissue expression)ATXN7
Protein : pattern, domain, 3D structure
UniProt/SwissProtO15265   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO15265  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO15265
Splice isoforms : SwissVarO15265
PhosPhoSitePlusO15265
Domaine pattern : Prosite (Expaxy)SCA7 (PS51505)   
Domains : Interpro (EBI)SCA7_dom   
Domain families : Pfam (Sanger)SCA7 (PF08313)   
Domain families : Pfam (NCBI)pfam08313   
Conserved Domain (NCBI)ATXN7
DMDM Disease mutations6314
Blocks (Seattle)ATXN7
PDB (SRS)2KKR   
PDB (PDBSum)2KKR   
PDB (IMB)2KKR   
PDB (RSDB)2KKR   
Structural Biology KnowledgeBase2KKR   
SCOP (Structural Classification of Proteins)2KKR   
CATH (Classification of proteins structures)2KKR   
SuperfamilyO15265
Human Protein AtlasENSG00000163635
Peptide AtlasO15265
HPRD06365
IPIIPI00005743   IPI00332082   IPI01008778   IPI00982823   IPI00956686   
Protein Interaction databases
DIP (DOE-UCLA)O15265
IntAct (EBI)O15265
FunCoupENSG00000163635
BioGRIDATXN7
STRING (EMBL)ATXN7
ZODIACATXN7
Ontologies - Pathways
QuickGOO15265
Ontology : AmiGOmicrotubule cytoskeleton organization  chromatin binding  protein binding  nucleus  nucleoplasm  nucleoplasm  nucleolus  cytosol  transcription, DNA-templated  nucleus organization  visual perception  microtubule cytoskeleton  nuclear matrix  histone deubiquitination  protein deubiquitination  thiol-dependent ubiquitinyl hydrolase activity  negative regulation of phosphorylation  negative regulation of insulin-like growth factor receptor signaling pathway  positive regulation of transcription from RNA polymerase II promoter  
Ontology : EGO-EBImicrotubule cytoskeleton organization  chromatin binding  protein binding  nucleus  nucleoplasm  nucleoplasm  nucleolus  cytosol  transcription, DNA-templated  nucleus organization  visual perception  microtubule cytoskeleton  nuclear matrix  histone deubiquitination  protein deubiquitination  thiol-dependent ubiquitinyl hydrolase activity  negative regulation of phosphorylation  negative regulation of insulin-like growth factor receptor signaling pathway  positive regulation of transcription from RNA polymerase II promoter  
NDEx NetworkATXN7
Atlas of Cancer Signalling NetworkATXN7
Wikipedia pathwaysATXN7
Orthology - Evolution
OrthoDB6314
GeneTree (enSembl)ENSG00000163635
Phylogenetic Trees/Animal Genes : TreeFamATXN7
HOVERGENO15265
HOGENOMO15265
Homologs : HomoloGeneATXN7
Homology/Alignments : Family Browser (UCSC)ATXN7
Gene fusions - Rearrangements
Fusion : MitelmanBCAS3/ATXN7 [17q23.2/3p14.1]  [t(3;17)(p14;q23)]  
Fusion : MitelmanRAD51C/ATXN7 [17q22/3p14.1]  [t(3;17)(p14;q22)]  
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerATXN7 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ATXN7
dbVarATXN7
ClinVarATXN7
1000_GenomesATXN7 
Exome Variant ServerATXN7
ExAC (Exome Aggregation Consortium)ATXN7 (select the gene name)
Genetic variants : HAPMAP6314
Genomic Variants (DGV)ATXN7 [DGVbeta]
DECIPHERATXN7 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisATXN7 
Mutations
ICGC Data PortalATXN7 
TCGA Data PortalATXN7 
Broad Tumor PortalATXN7
OASIS PortalATXN7 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICATXN7  [overview]  [genome browser]  [tisrue]/A:  [distribution]  
Mutations and Diseases : HGMDATXN7
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 ATXN7
DgiDB (Drug Gene Interaction Database)ATXN7
DoCM (Curated mutations)ATXN7 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ATXN7 (select a term)
intoGenATXN7
Cancer3DATXN7(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM164500    607640   
Orphanet12567   
MedgenATXN7
Genetic Testing Registry ATXN7
NextProtO15265 [Medical]
TSGene6314
GENETestsATXN7
Target ValidationATXN7
Huge Navigator ATXN7 [HugePedia]
snp3D : Map Gene to Disease6314
BioCentury BCIQATXN7
ClinGenATXN7
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD6314
Chemical/Pharm GKB GenePA34973
Clinical trialATXN7
Miscellaneous
canSAR (ICR)ATXN7 (select the gene name)
Probes
Litterature
PubMed82 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineATXN7
EVEXATXN7
GoPubMedATXN7
iHOPATXN7
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 25 18:58:44 CEST 2017

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