Atlas of Genetics and Cytogenetics in Oncology and Haematology


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ATXN1L (ataxin 1 like)

Identity

Alias_namesataxin 1-like
Alias_symbol (synonym)BOAT1
Other aliasBOAT
HGNC (Hugo) ATXN1L
LocusID (NCBI) 342371
Atlas_Id 56321
Location 16q22.2  [Link to chromosome band 16q22]
Location_base_pair Starts at 71879894 and ends at 71891236 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
ATXN1L (16q22.2) / CSF2RB (22q12.3)ATXN1L (16q22.2) / GPC4 (Xq26.2)

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)ATXN1L   33279
Cards
Entrez_Gene (NCBI)ATXN1L  342371  ataxin 1 like
AliasesBOAT; BOAT1
GeneCards (Weizmann)ATXN1L
Ensembl hg19 (Hinxton)ENSG00000224470 [Gene_View]  chr16:71879894-71891236 [Contig_View]  ATXN1L [Vega]
Ensembl hg38 (Hinxton)ENSG00000224470 [Gene_View]  chr16:71879894-71891236 [Contig_View]  ATXN1L [Vega]
ICGC DataPortalENSG00000224470
TCGA cBioPortalATXN1L
AceView (NCBI)ATXN1L
Genatlas (Paris)ATXN1L
WikiGenes342371
SOURCE (Princeton)ATXN1L
Genetics Home Reference (NIH)ATXN1L
Genomic and cartography
GoldenPath hg19 (UCSC)ATXN1L  -     chr16:71879894-71891236 +  16q22.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)ATXN1L  -     16q22.2   [Description]    (hg38-Dec_2013)
EnsemblATXN1L - 16q22.2 [CytoView hg19]  ATXN1L - 16q22.2 [CytoView hg38]
Mapping of homologs : NCBIATXN1L [Mapview hg19]  ATXN1L [Mapview hg38]
OMIM614301   
Gene and transcription
Genbank (Entrez)-
RefSeq transcript (Entrez)NM_001137675
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ATXN1L
Cluster EST : UnigeneHs.743239 [ NCBI ]
CGAP (NCI)Hs.743239
Alternative Splicing GalleryENSG00000224470
Gene ExpressionATXN1L [ NCBI-GEO ]   ATXN1L [ EBI - ARRAY_EXPRESS ]   ATXN1L [ SEEK ]   ATXN1L [ MEM ]
Gene Expression Viewer (FireBrowse)ATXN1L [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)342371
GTEX Portal (Tissue expression)ATXN1L
Protein : pattern, domain, 3D structure
UniProt/SwissProtP0C7T5   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP0C7T5  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP0C7T5
Splice isoforms : SwissVarP0C7T5
PhosPhoSitePlusP0C7T5
Domaine pattern : Prosite (Expaxy)AXH (PS51148)   
Domains : Interpro (EBI)Ataxin_AXH_dom    Hedgehog/Intein_dom   
Domain families : Pfam (Sanger)AXH (PF08517)   
Domain families : Pfam (NCBI)pfam08517   
Domain families : Smart (EMBL)AXH (SM00536)  
Conserved Domain (NCBI)ATXN1L
DMDM Disease mutations342371
Blocks (Seattle)ATXN1L
SuperfamilyP0C7T5
Human Protein AtlasENSG00000224470
Peptide AtlasP0C7T5
IPIIPI00900336   IPI00646151   
Protein Interaction databases
DIP (DOE-UCLA)P0C7T5
IntAct (EBI)P0C7T5
FunCoupENSG00000224470
BioGRIDATXN1L
STRING (EMBL)ATXN1L
ZODIACATXN1L
Ontologies - Pathways
QuickGOP0C7T5
Ontology : AmiGOnegative regulation of transcription from RNA polymerase II promoter  DNA binding  RNA binding  protein binding  nucleus  nucleoplasm  nucleolus  transcription, DNA-templated  extracellular matrix organization  dendrite  lung alveolus development  positive regulation of hematopoietic stem cell proliferation  
Ontology : EGO-EBInegative regulation of transcription from RNA polymerase II promoter  DNA binding  RNA binding  protein binding  nucleus  nucleoplasm  nucleolus  transcription, DNA-templated  extracellular matrix organization  dendrite  lung alveolus development  positive regulation of hematopoietic stem cell proliferation  
NDEx NetworkATXN1L
Atlas of Cancer Signalling NetworkATXN1L
Wikipedia pathwaysATXN1L
Orthology - Evolution
OrthoDB342371
GeneTree (enSembl)ENSG00000224470
Phylogenetic Trees/Animal Genes : TreeFamATXN1L
HOVERGENP0C7T5
HOGENOMP0C7T5
Homologs : HomoloGeneATXN1L
Homology/Alignments : Family Browser (UCSC)ATXN1L
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerATXN1L [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ATXN1L
dbVarATXN1L
ClinVarATXN1L
1000_GenomesATXN1L 
Exome Variant ServerATXN1L
ExAC (Exome Aggregation Consortium)ATXN1L (select the gene name)
Genetic variants : HAPMAP342371
Genomic Variants (DGV)ATXN1L [DGVbeta]
DECIPHER (Syndromes)16:71879894-71891236  ENSG00000224470
CONAN: Copy Number AnalysisATXN1L 
Mutations
ICGC Data PortalATXN1L 
TCGA Data PortalATXN1L 
Broad Tumor PortalATXN1L
OASIS PortalATXN1L [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICATXN1L  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDATXN1L
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch ATXN1L
DgiDB (Drug Gene Interaction Database)ATXN1L
DoCM (Curated mutations)ATXN1L (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ATXN1L (select a term)
intoGenATXN1L
Cancer3DATXN1L(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM614301   
Orphanet
MedgenATXN1L
Genetic Testing Registry ATXN1L
NextProtP0C7T5 [Medical]
TSGene342371
GENETestsATXN1L
Huge Navigator ATXN1L [HugePedia]
snp3D : Map Gene to Disease342371
BioCentury BCIQATXN1L
ClinGenATXN1L
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD342371
Chemical/Pharm GKB GenePA162377321
Clinical trialATXN1L
Miscellaneous
canSAR (ICR)ATXN1L (select the gene name)
Probes
Litterature
PubMed10 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineATXN1L
EVEXATXN1L
GoPubMedATXN1L
iHOPATXN1L
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 12:57:06 CET 2017

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