Atlas of Genetics and Cytogenetics in Oncology and Haematology

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DDX3X (DEAD-box helicase 3, X-linked)

Identity

Alias_namesDDX3
DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3
DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked
DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked
Alias_symbol (synonym)DBX
HLP2
DDX14
Other aliasCAP-Rf
MRX102
HGNC (Hugo) DDX3X
LocusID (NCBI) 1654
Atlas_Id 43986
Location Xp11.4  [Link to chromosome band Xp11]
Location_base_pair Starts at 41334162 and ends at 41350287 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)		DDX3X (Xp11.4) / DDX3X (Xp11.4)DDX3X (Xp11.4) / MLLT10 (10p12.31)DDX3X (Xp11.4) / PRKD1 (14q12)
GATM (15q21.1) / DDX3X (Xp11.4)IQSEC1 (3p25.2) / DDX3X (Xp11.4)MLLT10 (10p12.31) / DDX3X (Xp11.4)

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

 

Other Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(X;10)(p11;p12) DDX3X/MLLT10

External links

Nomenclature
HGNC (Hugo)DDX3X   2745
Cards
Entrez_Gene (NCBI)DDX3X  1654  DEAD-box helicase 3, X-linked
AliasesCAP-Rf; DBX; DDX14; DDX3; 
HLP2; MRX102
GeneCards (Weizmann)DDX3X
Ensembl hg19 (Hinxton)ENSG00000215301 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000215301 [Gene_View]  chrX:41334162-41350287 [Contig_View]  DDX3X [Vega]
ICGC DataPortalENSG00000215301
TCGA cBioPortalDDX3X
AceView (NCBI)DDX3X
Genatlas (Paris)DDX3X
WikiGenes1654
SOURCE (Princeton)DDX3X
Genetics Home Reference (NIH)DDX3X
Genomic and cartography
GoldenPath hg38 (UCSC)DDX3X  -     chrX:41334162-41350287 +  Xp11.4   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)DDX3X  -     Xp11.4   [Description]    (hg19-Feb_2009)
EnsemblDDX3X - Xp11.4 [CytoView hg19]  DDX3X - Xp11.4 [CytoView hg38]
Mapping of homologs : NCBIDDX3X [Mapview hg19]  DDX3X [Mapview hg38]
OMIM300160   300958   
Gene and transcription
Genbank (Entrez)###############################################################################################################################################################################################################################################################
RefSeq transcript (Entrez)NM_001193416 NM_001193417 NM_001356 NM_024005
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)DDX3X
Cluster EST : UnigeneHs.743263 [ NCBI ]
CGAP (NCI)Hs.743263
Alternative Splicing GalleryENSG00000215301
Gene ExpressionDDX3X [ NCBI-GEO ]   DDX3X [ EBI - ARRAY_EXPRESS ]   DDX3X [ SEEK ]   DDX3X [ MEM ]
Gene Expression Viewer (FireBrowse)DDX3X [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1654
GTEX Portal (Tissue expression)DDX3X
Protein : pattern, domain, 3D structure
UniProt/SwissProtO00571   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO00571  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO00571
Splice isoforms : SwissVarO00571
Catalytic activity : Enzyme3.6.4.13 [ Enzyme-Expasy ]   3.6.4.133.6.4.13 [ IntEnz-EBI ]   3.6.4.13 [ BRENDA ]   3.6.4.13 [ KEGG ]   
PhosPhoSitePlusO00571
Domaine pattern : Prosite (Expaxy)DEAD_ATP_HELICASE (PS00039)    HELICASE_ATP_BIND_1 (PS51192)    HELICASE_CTER (PS51194)    Q_MOTIF (PS51195)   
Domains : Interpro (EBI)DEAD/DEAH_box_helicase_dom    Helicase_ATP-bd    Helicase_C    P-loop_NTPase    RNA-helicase_DEAD-box_CS    RNA_helicase_DEAD_Q_motif   
Domain families : Pfam (Sanger)DEAD (PF00270)    Helicase_C (PF00271)   
Domain families : Pfam (NCBI)pfam00270    pfam00271   
Domain families : Smart (EMBL)DEXDc (SM00487)  HELICc (SM00490)  
Conserved Domain (NCBI)DDX3X
DMDM Disease mutations1654
Blocks (Seattle)DDX3X
PDB (SRS)2I4I    2JGN    3JRV    4O2C    4O2E    4O2F    4PX9    4PXA    5E7I    5E7J    5E7M   
PDB (PDBSum)2I4I    2JGN    3JRV    4O2C    4O2E    4O2F    4PX9    4PXA    5E7I    5E7J    5E7M   
PDB (IMB)2I4I    2JGN    3JRV    4O2C    4O2E    4O2F    4PX9    4PXA    5E7I    5E7J    5E7M   
PDB (RSDB)2I4I    2JGN    3JRV    4O2C    4O2E    4O2F    4PX9    4PXA    5E7I    5E7J    5E7M   
Structural Biology KnowledgeBase2I4I    2JGN    3JRV    4O2C    4O2E    4O2F    4PX9    4PXA    5E7I    5E7J    5E7M   
SCOP (Structural Classification of Proteins)2I4I    2JGN    3JRV    4O2C    4O2E    4O2F    4PX9    4PXA    5E7I    5E7J    5E7M   
CATH (Classification of proteins structures)2I4I    2JGN    3JRV    4O2C    4O2E    4O2F    4PX9    4PXA    5E7I    5E7J    5E7M   
SuperfamilyO00571
Human Protein AtlasENSG00000215301
Peptide AtlasO00571
HPRD02154
IPIIPI00215637   IPI00909282   IPI00910433   IPI00909544   IPI00984839   IPI00985384   
Protein Interaction databases
DIP (DOE-UCLA)O00571
IntAct (EBI)O00571
FunCoupENSG00000215301
BioGRIDDDX3X
STRING (EMBL)DDX3X
ZODIACDDX3X
Ontologies - Pathways
QuickGOO00571
Ontology : AmiGODNA binding  RNA binding  GTPase activity  ATP-dependent DNA helicase activity  ATP-dependent RNA helicase activity  protein binding  ATP binding  extracellular region  nucleus  cytoplasm  cytoplasm  mitochondrial outer membrane  cytosol  eukaryotic translation initiation factor 3 complex  transcription, DNA-templated  chromosome segregation  transcription factor binding  poly(A) binding  eukaryotic initiation factor 4E binding  extrinsic apoptotic signaling pathway via death domain receptors  response to virus  cytoplasmic stress granule  RNA secondary structure unwinding  positive regulation of gene expression  Wnt signaling pathway  nuclear speck  ATPase activity  nucleoside-triphosphatase activity  negative regulation of translation  cytosolic small ribosomal subunit  positive regulation of cell growth  negative regulation of cell growth  negative regulation of protein complex assembly  translation initiation factor binding  DNA duplex unwinding  positive regulation of interferon-beta production  RNA strand annealing activity  stress granule assembly  secretory granule lumen  intracellular signal transduction  RNA stem-loop binding  mature ribosome assembly  ribosomal small subunit binding  positive regulation of apoptotic process  negative regulation of apoptotic process  negative regulation of cysteine-type endopeptidase activity involved in apoptotic process  CTPase activity  positive regulation of cysteine-type endopeptidase activity involved in apoptotic process  neutrophil degranulation  positive regulation of viral genome replication  innate immune response  cadherin binding  positive regulation of translation  positive regulation of transcription from RNA polymerase II promoter  positive regulation of transcription from RNA polymerase II promoter  positive regulation of translational initiation  mRNA 5'-UTR binding  extracellular exosome  cellular response to arsenic-containing substance  cellular response to osmotic stress  positive regulation of chemokine (C-C motif) ligand 5 production  intrinsic apoptotic signaling pathway  positive regulation of G1/S transition of mitotic cell cycle  protein localization to cytoplasmic stress granule  ficolin-1-rich granule lumen  negative regulation of intrinsic apoptotic signaling pathway  
Ontology : EGO-EBIDNA binding  RNA binding  GTPase activity  ATP-dependent DNA helicase activity  ATP-dependent RNA helicase activity  protein binding  ATP binding  extracellular region  nucleus  cytoplasm  cytoplasm  mitochondrial outer membrane  cytosol  eukaryotic translation initiation factor 3 complex  transcription, DNA-templated  chromosome segregation  transcription factor binding  poly(A) binding  eukaryotic initiation factor 4E binding  extrinsic apoptotic signaling pathway via death domain receptors  response to virus  cytoplasmic stress granule  RNA secondary structure unwinding  positive regulation of gene expression  Wnt signaling pathway  nuclear speck  ATPase activity  nucleoside-triphosphatase activity  negative regulation of translation  cytosolic small ribosomal subunit  positive regulation of cell growth  negative regulation of cell growth  negative regulation of protein complex assembly  translation initiation factor binding  DNA duplex unwinding  positive regulation of interferon-beta production  RNA strand annealing activity  stress granule assembly  secretory granule lumen  intracellular signal transduction  RNA stem-loop binding  mature ribosome assembly  ribosomal small subunit binding  positive regulation of apoptotic process  negative regulation of apoptotic process  negative regulation of cysteine-type endopeptidase activity involved in apoptotic process  CTPase activity  positive regulation of cysteine-type endopeptidase activity involved in apoptotic process  neutrophil degranulation  positive regulation of viral genome replication  innate immune response  cadherin binding  positive regulation of translation  positive regulation of transcription from RNA polymerase II promoter  positive regulation of transcription from RNA polymerase II promoter  positive regulation of translational initiation  mRNA 5'-UTR binding  extracellular exosome  cellular response to arsenic-containing substance  cellular response to osmotic stress  positive regulation of chemokine (C-C motif) ligand 5 production  intrinsic apoptotic signaling pathway  positive regulation of G1/S transition of mitotic cell cycle  protein localization to cytoplasmic stress granule  ficolin-1-rich granule lumen  negative regulation of intrinsic apoptotic signaling pathway  
Pathways : KEGGRIG-I-like receptor signaling pathway    Hepatitis B    Viral carcinogenesis   
NDEx NetworkDDX3X
Atlas of Cancer Signalling NetworkDDX3X
Wikipedia pathwaysDDX3X
Orthology - Evolution
OrthoDB1654
GeneTree (enSembl)ENSG00000215301
Phylogenetic Trees/Animal Genes : TreeFamDDX3X
HOVERGENO00571
HOGENOMO00571
Homologs : HomoloGeneDDX3X
Homology/Alignments : Family Browser (UCSC)DDX3X
Gene fusions - Rearrangements
Fusion : MitelmanDDX3X/MLLT10 [Xp11.4/10p12.31]  
Fusion : MitelmanDDX3X/PRKD1 [Xp11.4/14q12]  [t(X;14)(p11;q12)]  
Fusion : MitelmanMLLT10/DDX3X [10p12.31/Xp11.4]  [t(X;10)(p11;p12)]  
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerDDX3X [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)DDX3X
dbVarDDX3X
ClinVarDDX3X
1000_GenomesDDX3X 
Exome Variant ServerDDX3X
ExAC (Exome Aggregation Consortium)DDX3X (select the gene name)
Genetic variants : HAPMAP1654
Genomic Variants (DGV)DDX3X [DGVbeta]
DECIPHERDDX3X [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisDDX3X 
Mutations
ICGC Data PortalDDX3X 
TCGA Data PortalDDX3X 
Broad Tumor PortalDDX3X
OASIS PortalDDX3X [ Somatic mutations - Copy number]
Cancer Gene: CensusDDX3X 
Somatic Mutations in Cancer : COSMICDDX3X  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDDDX3X
intOGen PortalDDX3X
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)X-chromosome gene database
BioMutasearch DDX3X
DgiDB (Drug Gene Interaction Database)DDX3X
DoCM (Curated mutations)DDX3X (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)DDX3X (select a term)
intoGenDDX3X
Cancer3DDDX3X(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM300160    300958   
Orphanet23717    14434   
MedgenDDX3X
Genetic Testing Registry DDX3X
NextProtO00571 [Medical]
TSGene1654
GENETestsDDX3X
Target ValidationDDX3X
Huge Navigator DDX3X [HugePedia]
snp3D : Map Gene to Disease1654
BioCentury BCIQDDX3X
ClinGenDDX3X
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1654
Chemical/Pharm GKB GenePA27216
Clinical trialDDX3X
Miscellaneous
canSAR (ICR)DDX3X (select the gene name)
Probes
Litterature
PubMed193 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineDDX3X
EVEXDDX3X
GoPubMedDDX3X
iHOPDDX3X
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 1 16:59:21 CEST 2017
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