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APTX (aprataxin)

Identity

Other namesAOA
AOA1
AXA1
EAOH
EOAHA
FHA-HIT
HGNC (Hugo) APTX
LocusID (NCBI) 54840
Atlas_Id 683
Location 9p21.1  [Link to chromosome band 9p21]
Location_base_pair Starts at 32972604 and ends at 33001639 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
ACO1 (9p21.1) / APTX (9p21.1)APTX (9p21.1) / ARL5B (10p12.31)APTX (9p21.1) / GNE (9p13.3)
APTX (9p21.1) / NOL6 (9p13.3)APTX (9p21.1) / SLC50A1 (1q22)UBAP2 (9p13.3) / APTX (9p21.1)
APTX 9p21.1 / ARL5B 10p12.31APTX 9p21.1 / GNE 9p13.3APTX 9p21.1 / NOL6 9p13.3
UBAP2 9p13.3 / APTX 9p21.1

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)APTX   15984
Cards
Entrez_Gene (NCBI)APTX  54840  aprataxin
AliasesAOA; AOA1; AXA1; EAOH; 
EOAHA; FHA-HIT
GeneCards (Weizmann)APTX
Ensembl hg19 (Hinxton)ENSG00000137074 [Gene_View]  chr9:32972604-33001639 [Contig_View]  APTX [Vega]
Ensembl hg38 (Hinxton)ENSG00000137074 [Gene_View]  chr9:32972604-33001639 [Contig_View]  APTX [Vega]
ICGC DataPortalENSG00000137074
TCGA cBioPortalAPTX
AceView (NCBI)APTX
Genatlas (Paris)APTX
WikiGenes54840
SOURCE (Princeton)APTX
Genomic and cartography
GoldenPath hg19 (UCSC)APTX  -     chr9:32972604-33001639 -  9p21.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)APTX  -     9p21.1   [Description]    (hg38-Dec_2013)
EnsemblAPTX - 9p21.1 [CytoView hg19]  APTX - 9p21.1 [CytoView hg38]
Mapping of homologs : NCBIAPTX [Mapview hg19]  APTX [Mapview hg38]
OMIM208920   606350   
Gene and transcription
Genbank (Entrez)AA494365 AB603741 AJ565850 AJ565851 AJ565852
RefSeq transcript (Entrez)NM_001195248 NM_001195249 NM_001195250 NM_001195251 NM_001195252 NM_001195254 NM_017692 NM_175069 NM_175072 NM_175073
RefSeq genomic (Entrez)NC_000009 NC_018920 NG_012821 NT_008413 NW_004929342
Consensus coding sequences : CCDS (NCBI)APTX
Cluster EST : UnigeneHs.20158 [ NCBI ]
CGAP (NCI)Hs.20158
Alternative Splicing GalleryENSG00000137074
Gene ExpressionAPTX [ NCBI-GEO ]   APTX [ EBI - ARRAY_EXPRESS ]   APTX [ SEEK ]   APTX [ MEM ]
Gene Expression Viewer (FireBrowse)APTX [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)54840
GTEX Portal (Tissue expression)APTX
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ7Z2E3 (Uniprot)
NextProtQ7Z2E3  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ7Z2E3
Splice isoforms : SwissVarQ7Z2E3 (Swissvar)
Catalytic activity : Enzyme3.-.-.- [ Enzyme-Expasy ]   3.-.-.-3.-.-.- [ IntEnz-EBI ]   3.-.-.- [ BRENDA ]   3.-.-.- [ KEGG ]   
PhosPhoSitePlusQ7Z2E3
Domaine pattern : Prosite (Expaxy)HIT_1 (PS00892)    HIT_2 (PS51084)    ZINC_FINGER_C2H2_1 (PS00028)   
Domains : Interpro (EBI)Aprataxin    FHA_dom    Histidine_triad_CS    HIT-like    SMAD_FHA_domain    Znf-C2HE    Znf_C2H2    Znf_C2H2-like   
Domain families : Pfam (Sanger)FHA (PF00498)    zf-C2HE (PF16278)   
Domain families : Pfam (NCBI)pfam00498    pfam16278   
Domain families : Smart (EMBL)ZnF_C2H2 (SM00355)  
DMDM Disease mutations54840
Blocks (Seattle)APTX
PDB (SRS)3KT9    4NDF    4NDG    4NDH    4NDI   
PDB (PDBSum)3KT9    4NDF    4NDG    4NDH    4NDI   
PDB (IMB)3KT9    4NDF    4NDG    4NDH    4NDI   
PDB (RSDB)3KT9    4NDF    4NDG    4NDH    4NDI   
Structural Biology KnowledgeBase3KT9    4NDF    4NDG    4NDH    4NDI   
SCOP (Structural Classification of Proteins)3KT9    4NDF    4NDG    4NDH    4NDI   
CATH (Classification of proteins structures)3KT9    4NDF    4NDG    4NDH    4NDI   
SuperfamilyQ7Z2E3
Human Protein AtlasENSG00000137074
Peptide AtlasQ7Z2E3
HPRD05892
IPIIPI00420029   IPI00411460   IPI00180685   IPI00420030   IPI00375305   IPI00420031   IPI00414767   IPI00420033   IPI00979014   IPI00428970   IPI00554783   IPI00428972   IPI00428971   IPI00947276   IPI00946014   IPI00946396   IPI00947105   IPI00946983   IPI00946799   
Protein Interaction databases
DIP (DOE-UCLA)Q7Z2E3
IntAct (EBI)Q7Z2E3
FunCoupENSG00000137074
BioGRIDAPTX
STRING (EMBL)APTX
ZODIACAPTX
Ontologies - Pathways
QuickGOQ7Z2E3
Ontology : AmiGOsingle strand break repair  chromatin  nuclear chromatin  chromatin binding  damaged DNA binding  double-stranded DNA binding  double-stranded RNA binding  protein binding  nucleus  nucleoplasm  nucleolus  cytoplasm  DNA ligation  double-strand break repair  cellular response to DNA damage stimulus  phosphoglycolate phosphatase activity  dephosphorylation  regulation of protein stability  DNA 5'-adenosine monophosphate hydrolase activity  response to hydrogen peroxide  polynucleotide 3'-phosphatase activity  metal ion binding  protein N-terminus binding  phosphoprotein binding  nucleic acid phosphodiester bond hydrolysis  nucleic acid phosphodiester bond hydrolysis  polynucleotide 3' dephosphorylation  
Ontology : EGO-EBIsingle strand break repair  chromatin  nuclear chromatin  chromatin binding  damaged DNA binding  double-stranded DNA binding  double-stranded RNA binding  protein binding  nucleus  nucleoplasm  nucleolus  cytoplasm  DNA ligation  double-strand break repair  cellular response to DNA damage stimulus  phosphoglycolate phosphatase activity  dephosphorylation  regulation of protein stability  DNA 5'-adenosine monophosphate hydrolase activity  response to hydrogen peroxide  polynucleotide 3'-phosphatase activity  metal ion binding  protein N-terminus binding  phosphoprotein binding  nucleic acid phosphodiester bond hydrolysis  nucleic acid phosphodiester bond hydrolysis  polynucleotide 3' dephosphorylation  
NDEx Network
Atlas of Cancer Signalling NetworkAPTX
Wikipedia pathwaysAPTX
Orthology - Evolution
OrthoDB54840
GeneTree (enSembl)ENSG00000137074
Phylogenetic Trees/Animal Genes : TreeFamAPTX
Homologs : HomoloGeneAPTX
Homology/Alignments : Family Browser (UCSC)APTX
Gene fusions - Rearrangements
Fusion: TCGAAPTX 9p21.1 ARL5B 10p12.31 LUSC
Fusion: TCGAAPTX 9p21.1 GNE 9p13.3 BRCA
Fusion: TCGAAPTX 9p21.1 NOL6 9p13.3 HNSC
Fusion: TCGAUBAP2 9p13.3 APTX 9p21.1 LUAD
Polymorphisms : SNP, variants
NCBI Variation ViewerAPTX [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)APTX
dbVarAPTX
ClinVarAPTX
1000_GenomesAPTX 
Exome Variant ServerAPTX
ExAC (Exome Aggregation Consortium)APTX (select the gene name)
Genetic variants : HAPMAP54840
Genomic Variants (DGV)APTX [DGVbeta]
Mutations
ICGC Data PortalAPTX 
TCGA Data PortalAPTX 
Broad Tumor PortalAPTX
OASIS PortalAPTX [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICAPTX 
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)Mendelian genes
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch APTX
DgiDB (Drug Gene Interaction Database)APTX
DoCM (Curated mutations)APTX (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)APTX (select a term)
intoGenAPTX
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)9:32972604-33001639  ENSG00000137074
CONAN: Copy Number AnalysisAPTX 
Mutations and Diseases : HGMDAPTX
OMIM208920    606350   
MedgenAPTX
Genetic Testing Registry APTX
NextProtQ7Z2E3 [Medical]
TSGene54840
GENETestsAPTX
Huge Navigator APTX [HugePedia]
snp3D : Map Gene to Disease54840
BioCentury BCIQAPTX
ClinGenAPTX
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD54840
Chemical/Pharm GKB GenePA24915
Clinical trialAPTX
Miscellaneous
canSAR (ICR)APTX (select the gene name)
Probes
Litterature
PubMed67 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineAPTX
EVEXAPTX
GoPubMedAPTX
iHOPAPTX
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Aug 9 19:23:12 CEST 2016

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