Atlas of Genetics and Cytogenetics in Oncology and Haematology


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ATXN7L3 (ataxin 7 like 3)

Identity

Alias_namesataxin 7-like 3
Alias_symbol (synonym)DKFZp761G2113
Other alias-
HGNC (Hugo) ATXN7L3
LocusID (NCBI) 56970
Atlas_Id 54146
Location 17q21.31  [Link to chromosome band 17q21]
Location_base_pair Starts at 44191805 and ends at 44198161 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ATXN7L3 (17q21.31) / FAM171A2 (17q21.31)

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)ATXN7L3   25416
Cards
Entrez_Gene (NCBI)ATXN7L3  56970  ataxin 7 like 3
Aliases
GeneCards (Weizmann)ATXN7L3
Ensembl hg19 (Hinxton)ENSG00000087152 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000087152 [Gene_View]  chr17:44191805-44198161 [Contig_View]  ATXN7L3 [Vega]
ICGC DataPortalENSG00000087152
TCGA cBioPortalATXN7L3
AceView (NCBI)ATXN7L3
Genatlas (Paris)ATXN7L3
WikiGenes56970
SOURCE (Princeton)ATXN7L3
Genetics Home Reference (NIH)ATXN7L3
Genomic and cartography
GoldenPath hg38 (UCSC)ATXN7L3  -     chr17:44191805-44198161 -  17q21.31   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ATXN7L3  -     17q21.31   [Description]    (hg19-Feb_2009)
EnsemblATXN7L3 - 17q21.31 [CytoView hg19]  ATXN7L3 - 17q21.31 [CytoView hg38]
Mapping of homologs : NCBIATXN7L3 [Mapview hg19]  ATXN7L3 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AK056002 AK074344 AK126117 AK296689 AL390158
RefSeq transcript (Entrez)NM_001098833 NM_020218
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ATXN7L3
Cluster EST : UnigeneHs.512651 [ NCBI ]
CGAP (NCI)Hs.512651
Alternative Splicing GalleryENSG00000087152
Gene ExpressionATXN7L3 [ NCBI-GEO ]   ATXN7L3 [ EBI - ARRAY_EXPRESS ]   ATXN7L3 [ SEEK ]   ATXN7L3 [ MEM ]
Gene Expression Viewer (FireBrowse)ATXN7L3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)56970
GTEX Portal (Tissue expression)ATXN7L3
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ14CW9   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ14CW9  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ14CW9
Splice isoforms : SwissVarQ14CW9
PhosPhoSitePlusQ14CW9
Domaine pattern : Prosite (Expaxy)SCA7 (PS51505)   
Domains : Interpro (EBI)SAGA_su_Sgf11    SCA7_dom   
Domain families : Pfam (Sanger)SCA7 (PF08313)    Sgf11 (PF08209)   
Domain families : Pfam (NCBI)pfam08313    pfam08209   
Conserved Domain (NCBI)ATXN7L3
DMDM Disease mutations56970
Blocks (Seattle)ATXN7L3
PDB (SRS)2KKT   
PDB (PDBSum)2KKT   
PDB (IMB)2KKT   
PDB (RSDB)2KKT   
Structural Biology KnowledgeBase2KKT   
SCOP (Structural Classification of Proteins)2KKT   
CATH (Classification of proteins structures)2KKT   
SuperfamilyQ14CW9
Human Protein AtlasENSG00000087152
Peptide AtlasQ14CW9
IPIIPI00783398   IPI00401194   IPI01011826   
Protein Interaction databases
DIP (DOE-UCLA)Q14CW9
IntAct (EBI)Q14CW9
FunCoupENSG00000087152
BioGRIDATXN7L3
STRING (EMBL)ATXN7L3
ZODIACATXN7L3
Ontologies - Pathways
QuickGOQ14CW9
Ontology : AmiGOSAGA complex  transcription coactivator activity  protein binding  transcription, DNA-templated  histone deubiquitination  ligand-dependent nuclear receptor transcription coactivator activity  positive regulation of transcription, DNA-templated  metal ion binding  
Ontology : EGO-EBISAGA complex  transcription coactivator activity  protein binding  transcription, DNA-templated  histone deubiquitination  ligand-dependent nuclear receptor transcription coactivator activity  positive regulation of transcription, DNA-templated  metal ion binding  
NDEx NetworkATXN7L3
Atlas of Cancer Signalling NetworkATXN7L3
Wikipedia pathwaysATXN7L3
Orthology - Evolution
OrthoDB56970
GeneTree (enSembl)ENSG00000087152
Phylogenetic Trees/Animal Genes : TreeFamATXN7L3
HOVERGENQ14CW9
HOGENOMQ14CW9
Homologs : HomoloGeneATXN7L3
Homology/Alignments : Family Browser (UCSC)ATXN7L3
Gene fusions - Rearrangements
Fusion : MitelmanATXN7L3/FAM171A2 [17q21.31/17q21.31]  
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerATXN7L3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ATXN7L3
dbVarATXN7L3
ClinVarATXN7L3
1000_GenomesATXN7L3 
Exome Variant ServerATXN7L3
ExAC (Exome Aggregation Consortium)ATXN7L3 (select the gene name)
Genetic variants : HAPMAP56970
Genomic Variants (DGV)ATXN7L3 [DGVbeta]
DECIPHERATXN7L3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisATXN7L3 
Mutations
ICGC Data PortalATXN7L3 
TCGA Data PortalATXN7L3 
Broad Tumor PortalATXN7L3
OASIS PortalATXN7L3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICATXN7L3  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDATXN7L3
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 ATXN7L3
DgiDB (Drug Gene Interaction Database)ATXN7L3
DoCM (Curated mutations)ATXN7L3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ATXN7L3 (select a term)
intoGenATXN7L3
Cancer3DATXN7L3(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
MedgenATXN7L3
Genetic Testing Registry ATXN7L3
NextProtQ14CW9 [Medical]
TSGene56970
GENETestsATXN7L3
Target ValidationATXN7L3
Huge Navigator ATXN7L3 [HugePedia]
snp3D : Map Gene to Disease56970
BioCentury BCIQATXN7L3
ClinGenATXN7L3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD56970
Chemical/Pharm GKB GenePA134991793
Clinical trialATXN7L3
Miscellaneous
canSAR (ICR)ATXN7L3 (select the gene name)
Probes
Litterature
PubMed15 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineATXN7L3
EVEXATXN7L3
GoPubMedATXN7L3
iHOPATXN7L3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Aug 1 16:55:48 CEST 2017

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