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ATN1 (atrophin 1)

Identity

Alias_namesD12S755E
DRPLA
dentatorubral-pallidoluysian atrophy (atrophin-1)
Alias_symbol (synonym)B37
Other aliasHRS
NOD
HGNC (Hugo) ATN1
LocusID (NCBI) 1822
Atlas_Id 60605
Location 12p13.31  [Link to chromosome band 12p13]
Location_base_pair Starts at 6924463 and ends at 6942321 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)
ABCC5 (3q27.1) / ATN1 (12p13.31)ADAP1 (7p22.3) / ATN1 (12p13.31)ATN1 (12p13.31) / ATN1 (12p13.31)
ATN1 (12p13.31) / BRPF3 (6p21.31)ATN1 (12p13.31) / TMEM266 (15q24.2)KLHDC3 (6p21.1) / ATN1 (12p13.31)
RTL1 (14q32.2) / ATN1 (12p13.31)SLC2A1 (1p34.2) / ATN1 (12p13.31)SLC2A11 (22q11.23) / ATN1 (12p13.31)
TMEM266 (15q24.2) / ATN1 (12p13.31)

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)ATN1   3033
Cards
Entrez_Gene (NCBI)ATN1  1822  atrophin 1
AliasesB37; D12S755E; DRPLA; HRS; 
NOD
GeneCards (Weizmann)ATN1
Ensembl hg19 (Hinxton)ENSG00000111676 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000111676 [Gene_View]  chr12:6924463-6942321 [Contig_View]  ATN1 [Vega]
ICGC DataPortalENSG00000111676
TCGA cBioPortalATN1
AceView (NCBI)ATN1
Genatlas (Paris)ATN1
WikiGenes1822
SOURCE (Princeton)ATN1
Genetics Home Reference (NIH)ATN1
Genomic and cartography
GoldenPath hg38 (UCSC)ATN1  -     chr12:6924463-6942321 +  12p13.31   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ATN1  -     12p13.31   [Description]    (hg19-Feb_2009)
EnsemblATN1 - 12p13.31 [CytoView hg19]  ATN1 - 12p13.31 [CytoView hg38]
Mapping of homologs : NCBIATN1 [Mapview hg19]  ATN1 [Mapview hg38]
OMIM125370   607462   
Gene and transcription
Genbank (Entrez)AW411230 BC051795 BE142829 BQ448220 BQ880124
RefSeq transcript (Entrez)NM_001007026 NM_001940
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ATN1
Cluster EST : UnigeneHs.143766 [ NCBI ]
CGAP (NCI)Hs.143766
Alternative Splicing GalleryENSG00000111676
Gene ExpressionATN1 [ NCBI-GEO ]   ATN1 [ EBI - ARRAY_EXPRESS ]   ATN1 [ SEEK ]   ATN1 [ MEM ]
Gene Expression Viewer (FireBrowse)ATN1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1822
GTEX Portal (Tissue expression)ATN1
Human Protein AtlasENSG00000111676-ATN1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP54259   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP54259  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP54259
Splice isoforms : SwissVarP54259
PhosPhoSitePlusP54259
Domains : Interpro (EBI)Atrophin-1    Atrophin-like   
Domain families : Pfam (Sanger)Atrophin-1 (PF03154)   
Domain families : Pfam (NCBI)pfam03154   
Conserved Domain (NCBI)ATN1
DMDM Disease mutations1822
Blocks (Seattle)ATN1
SuperfamilyP54259
Human Protein Atlas [tissue]ENSG00000111676-ATN1 [tissue]
Peptide AtlasP54259
HPRD06311
IPIIPI00005502   IPI00654704   IPI00884097   
Protein Interaction databases
DIP (DOE-UCLA)P54259
IntAct (EBI)P54259
FunCoupENSG00000111676
BioGRIDATN1
STRING (EMBL)ATN1
ZODIACATN1
Ontologies - Pathways
QuickGOP54259
Ontology : AmiGOnegative regulation of transcription from RNA polymerase II promoter  transcription corepressor activity  protein binding  nucleus  nucleoplasm  cytoplasm  transcription, DNA-templated  central nervous system development  nuclear matrix  protein domain specific binding  cell junction  perinuclear region of cytoplasm  neuron apoptotic process  
Ontology : EGO-EBInegative regulation of transcription from RNA polymerase II promoter  transcription corepressor activity  protein binding  nucleus  nucleoplasm  cytoplasm  transcription, DNA-templated  central nervous system development  nuclear matrix  protein domain specific binding  cell junction  perinuclear region of cytoplasm  neuron apoptotic process  
NDEx NetworkATN1
Atlas of Cancer Signalling NetworkATN1
Wikipedia pathwaysATN1
Orthology - Evolution
OrthoDB1822
GeneTree (enSembl)ENSG00000111676
Phylogenetic Trees/Animal Genes : TreeFamATN1
HOVERGENP54259
HOGENOMP54259
Homologs : HomoloGeneATN1
Homology/Alignments : Family Browser (UCSC)ATN1
Gene fusions - Rearrangements
Fusion: Tumor Portal ATN1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerATN1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ATN1
dbVarATN1
ClinVarATN1
1000_GenomesATN1 
Exome Variant ServerATN1
ExAC (Exome Aggregation Consortium)ENSG00000111676
GNOMAD BrowserENSG00000111676
Genetic variants : HAPMAP1822
Genomic Variants (DGV)ATN1 [DGVbeta]
DECIPHERATN1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisATN1 
Mutations
ICGC Data PortalATN1 
TCGA Data PortalATN1 
Broad Tumor PortalATN1
OASIS PortalATN1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICATN1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDATN1
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 ATN1
DgiDB (Drug Gene Interaction Database)ATN1
DoCM (Curated mutations)ATN1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ATN1 (select a term)
intoGenATN1
Cancer3DATN1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM125370    607462   
Orphanet150   
MedgenATN1
Genetic Testing Registry ATN1
NextProtP54259 [Medical]
TSGene1822
GENETestsATN1
Target ValidationATN1
Huge Navigator ATN1 [HugePedia]
snp3D : Map Gene to Disease1822
BioCentury BCIQATN1
ClinGenATN1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1822
Chemical/Pharm GKB GenePA27487
Clinical trialATN1
Miscellaneous
canSAR (ICR)ATN1 (select the gene name)
Probes
Litterature
PubMed78 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineATN1
EVEXATN1
GoPubMedATN1
iHOPATN1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Nov 9 11:38:34 CET 2017

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