Atlas of Genetics and Cytogenetics in Oncology and Haematology


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ATRX (ATRX, chromatin remodeler)

Identity

Alias_namesRAD54
JMS
MRX52
alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)
Juberg-Marsidi syndrome
mental retardation, X-linked 52
alpha thalassemia/mental retardation syndrome X-linked
Alias_symbol (synonym)XH2
XNP
Other aliasRAD54L
ZNF-HX
HGNC (Hugo) ATRX
LocusID (NCBI) 546
Atlas_Id 729
Location Xq21.1  [Link to chromosome band Xq21]
Location_base_pair Starts at 77504878 and ends at 77786269 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ATRX (Xq21.1) / BCL2 (18q21.33)ATRX (Xq21.1) / VSIG4 (Xq12)ATRX (Xq21.1) / ZNF304 (19q13.43)
ATRX Xq21.1 / BCL2 18q21.33ATRX Xq21.1 / ZNF304 19q13.43

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)ATRX   886
Cards
Entrez_Gene (NCBI)ATRX  546  ATRX, chromatin remodeler
AliasesJMS; MRX52; RAD54; RAD54L; 
XH2; XNP; ZNF-HX
GeneCards (Weizmann)ATRX
Ensembl hg19 (Hinxton)ENSG00000085224 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000085224 [Gene_View]  chrX:77504878-77786269 [Contig_View]  ATRX [Vega]
ICGC DataPortalENSG00000085224
TCGA cBioPortalATRX
AceView (NCBI)ATRX
Genatlas (Paris)ATRX
WikiGenes546
SOURCE (Princeton)ATRX
Genetics Home Reference (NIH)ATRX
Genomic and cartography
GoldenPath hg38 (UCSC)ATRX  -     chrX:77504878-77786269 -  Xq21.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ATRX  -     Xq21.1   [Description]    (hg19-Feb_2009)
EnsemblATRX - Xq21.1 [CytoView hg19]  ATRX - Xq21.1 [CytoView hg38]
Mapping of homologs : NCBIATRX [Mapview hg19]  ATRX [Mapview hg38]
OMIM300032   300448   300504   301040   309580   
Gene and transcription
Genbank (Entrez)AA484729 AA732359 AB102641 AB208928 AB209545
RefSeq transcript (Entrez)NM_000489 NM_138270 NM_138271
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ATRX
Cluster EST : UnigeneHs.653797 [ NCBI ]
CGAP (NCI)Hs.653797
Alternative Splicing GalleryENSG00000085224
Gene ExpressionATRX [ NCBI-GEO ]   ATRX [ EBI - ARRAY_EXPRESS ]   ATRX [ SEEK ]   ATRX [ MEM ]
Gene Expression Viewer (FireBrowse)ATRX [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)546
GTEX Portal (Tissue expression)ATRX
Protein : pattern, domain, 3D structure
UniProt/SwissProtP46100   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP46100  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP46100
Splice isoforms : SwissVarP46100
Catalytic activity : Enzyme3.6.4.12 [ Enzyme-Expasy ]   3.6.4.123.6.4.12 [ IntEnz-EBI ]   3.6.4.12 [ BRENDA ]   3.6.4.12 [ KEGG ]   
PhosPhoSitePlusP46100
Domaine pattern : Prosite (Expaxy)ADD (PS51533)    HELICASE_ATP_BIND_1 (PS51192)    HELICASE_CTER (PS51194)   
Domains : Interpro (EBI)ADD    Helicase_ATP-bd    Helicase_C    P-loop_NTPase    SNF2_N    Znf_FYVE_PHD    Znf_RING/FYVE/PHD   
Domain families : Pfam (Sanger)Helicase_C (PF00271)    SNF2_N (PF00176)   
Domain families : Pfam (NCBI)pfam00271    pfam00176   
Domain families : Smart (EMBL)DEXDc (SM00487)  HELICc (SM00490)  
Conserved Domain (NCBI)ATRX
DMDM Disease mutations546
Blocks (Seattle)ATRX
PDB (SRS)2JM1    2LBM    2LD1    3QL9    3QLA    3QLC    3QLN    4W5A   
PDB (PDBSum)2JM1    2LBM    2LD1    3QL9    3QLA    3QLC    3QLN    4W5A   
PDB (IMB)2JM1    2LBM    2LD1    3QL9    3QLA    3QLC    3QLN    4W5A   
PDB (RSDB)2JM1    2LBM    2LD1    3QL9    3QLA    3QLC    3QLN    4W5A   
Structural Biology KnowledgeBase2JM1    2LBM    2LD1    3QL9    3QLA    3QLC    3QLN    4W5A   
SCOP (Structural Classification of Proteins)2JM1    2LBM    2LD1    3QL9    3QLA    3QLC    3QLN    4W5A   
CATH (Classification of proteins structures)2JM1    2LBM    2LD1    3QL9    3QLA    3QLC    3QLN    4W5A   
SuperfamilyP46100
Human Protein AtlasENSG00000085224
Peptide AtlasP46100
HPRD02069
IPIIPI00297633   IPI00883721   IPI00938010   IPI00845355   IPI00220109   IPI00940810   IPI00552321   IPI01025076   IPI00647789   
Protein Interaction databases
DIP (DOE-UCLA)P46100
IntAct (EBI)P46100
FunCoupENSG00000085224
BioGRIDATRX
STRING (EMBL)ATRX
ZODIACATRX
Ontologies - Pathways
QuickGOP46100
Ontology : AmiGOmeiotic spindle organization  condensed nuclear chromosome, centromeric region  nuclear chromosome, telomeric region  nuclear chromosome, telomeric region  DNA binding  DNA helicase activity  chromatin binding  helicase activity  protein binding  ATP binding  nucleus  nucleoplasm  nuclear heterochromatin  pericentric heterochromatin  DNA repair  DNA methylation  DNA recombination  nucleosome assembly  DNA replication-independent nucleosome assembly  chromatin remodeling  transcription, DNA-templated  regulation of transcription, DNA-templated  spermatogenesis  positive regulation of nuclear cell cycle DNA replication  DNA translocase activity  covalent chromatin modification  nuclear body  PML body  DNA damage response, signal transduction by p53 class mediator  forebrain development  replication fork processing  nuclear pericentric heterochromatin  telomeric heterochromatin  positive regulation of telomere maintenance  DNA duplex unwinding  methylated histone binding  post-embryonic forelimb morphogenesis  multicellular organism growth  histone binding  positive regulation of transcription from RNA polymerase II promoter  metal ion binding  Sertoli cell development  chromo shadow domain binding  chromosome organization involved in meiotic cell cycle  protein localization to chromosome, telomeric region  SWI/SNF superfamily-type complex  seminiferous tubule development  cellular response to hydroxyurea  regulation of histone H3-K9 trimethylation  negative regulation of telomeric RNA transcription from RNA pol II promoter  positive regulation of telomeric RNA transcription from RNA pol II promoter  negative regulation of maintenance of mitotic sister chromatid cohesion, telomeric  nuclear subtelomeric heterochromatin  
Ontology : EGO-EBImeiotic spindle organization  condensed nuclear chromosome, centromeric region  nuclear chromosome, telomeric region  nuclear chromosome, telomeric region  DNA binding  DNA helicase activity  chromatin binding  helicase activity  protein binding  ATP binding  nucleus  nucleoplasm  nuclear heterochromatin  pericentric heterochromatin  DNA repair  DNA methylation  DNA recombination  nucleosome assembly  DNA replication-independent nucleosome assembly  chromatin remodeling  transcription, DNA-templated  regulation of transcription, DNA-templated  spermatogenesis  positive regulation of nuclear cell cycle DNA replication  DNA translocase activity  covalent chromatin modification  nuclear body  PML body  DNA damage response, signal transduction by p53 class mediator  forebrain development  replication fork processing  nuclear pericentric heterochromatin  telomeric heterochromatin  positive regulation of telomere maintenance  DNA duplex unwinding  methylated histone binding  post-embryonic forelimb morphogenesis  multicellular organism growth  histone binding  positive regulation of transcription from RNA polymerase II promoter  metal ion binding  Sertoli cell development  chromo shadow domain binding  chromosome organization involved in meiotic cell cycle  protein localization to chromosome, telomeric region  SWI/SNF superfamily-type complex  seminiferous tubule development  cellular response to hydroxyurea  regulation of histone H3-K9 trimethylation  negative regulation of telomeric RNA transcription from RNA pol II promoter  positive regulation of telomeric RNA transcription from RNA pol II promoter  negative regulation of maintenance of mitotic sister chromatid cohesion, telomeric  nuclear subtelomeric heterochromatin  
NDEx NetworkATRX
Atlas of Cancer Signalling NetworkATRX
Wikipedia pathwaysATRX
Orthology - Evolution
OrthoDB546
GeneTree (enSembl)ENSG00000085224
Phylogenetic Trees/Animal Genes : TreeFamATRX
HOVERGENP46100
HOGENOMP46100
Homologs : HomoloGeneATRX
Homology/Alignments : Family Browser (UCSC)ATRX
Gene fusions - Rearrangements
Fusion : MitelmanATRX/BCL2 [Xq21.1/18q21.33]  
Fusion : MitelmanATRX/ZNF304 [Xq21.1/19q13.43]  [t(X;19)(q21;q13)]  
Fusion: TCGAATRX Xq21.1 BCL2 18q21.33 LGG
Fusion: TCGAATRX Xq21.1 ZNF304 19q13.43 LGG
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerATRX [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ATRX
dbVarATRX
ClinVarATRX
1000_GenomesATRX 
Exome Variant ServerATRX
ExAC (Exome Aggregation Consortium)ATRX (select the gene name)
Genetic variants : HAPMAP546
Genomic Variants (DGV)ATRX [DGVbeta]
DECIPHERATRX [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisATRX 
Mutations
ICGC Data PortalATRX 
TCGA Data PortalATRX 
Broad Tumor PortalATRX
OASIS PortalATRX [ Somatic mutations - Copy number]
Cancer Gene: CensusATRX 
Somatic Mutations in Cancer : COSMICATRX  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDATRX
intOGen PortalATRX
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)The Globin Gene Server
BioMutasearch ATRX
DgiDB (Drug Gene Interaction Database)ATRX
DoCM (Curated mutations)ATRX (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ATRX (select a term)
intoGenATRX
Cancer3DATRX(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM300032    300448    300504    301040    309580   
Orphanet900    19184    12532    12529    12528    12531    12530   
MedgenATRX
Genetic Testing Registry ATRX
NextProtP46100 [Medical]
TSGene546
GENETestsATRX
Target ValidationATRX
Huge Navigator ATRX [HugePedia]
snp3D : Map Gene to Disease546
BioCentury BCIQATRX
ClinGenATRX (curated)
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD546
Chemical/Pharm GKB GenePA25179
Clinical trialATRX
Miscellaneous
canSAR (ICR)ATRX (select the gene name)
Probes
Litterature
PubMed177 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineATRX
EVEXATRX
GoPubMedATRX
iHOPATRX
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Sep 25 18:58:43 CEST 2017

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