Atlas of Genetics and Cytogenetics in Oncology and Haematology

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DDX3X (DEAD-box helicase 3 X-linked)

Identity

Alias (NCBI)CAP-Rf
DBX
DDX14
DDX3
HLP2
MRX102
MRXSSB
HGNC (Hugo) DDX3X
HGNC Alias symbDBX
HLP2
DDX14
HGNC Previous nameDDX3
HGNC Previous nameDEAD/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
LocusID (NCBI) 1654
Atlas_Id 43986
Location Xp11.4  [Link to chromosome band Xp11]
Location_base_pair Starts at 41334166 and ends at 41350287 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
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    DEAD-box helicase 3 X-linked
AliasesCAP-Rf; DBX; DDX14; DDX3; 
HLP2; MRX102; MRXSSB
GeneCards (Weizmann)DDX3X
Ensembl hg19 (Hinxton)ENSG00000215301 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000215301 [Gene_View]  ENSG00000215301 [Sequence]  chrX:41334166-41350287 [Contig_View]  DDX3X [Vega]
ICGC DataPortalENSG00000215301
TCGA cBioPortalDDX3X
AceView (NCBI)DDX3X
Genatlas (Paris)DDX3X
SOURCE (Princeton)DDX3X
Genetics Home Reference (NIH)DDX3X
Genomic and cartography
GoldenPath hg38 (UCSC)DDX3X  -     chrX:41334166-41350287 +  Xp11.4   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)DDX3X  -     Xp11.4   [Description]    (hg19-Feb_2009)
GoldenPathDDX3X - Xp11.4 [CytoView hg19]  DDX3X - Xp11.4 [CytoView hg38]
ImmunoBaseENSG00000215301
Genome Data Viewer NCBIDDX3X [Mapview hg19]  
OMIM300160   300958   
Gene and transcription
Genbank (Entrez)AA481139 AB208983 AB451220 AB451343 AF000982
RefSeq transcript (Entrez)NM_001193416 NM_001193417 NM_001356 NM_001363819 NM_024005
Consensus coding sequences : CCDS (NCBI)DDX3X
Gene ExpressionDDX3X [ NCBI-GEO ]   DDX3X [ EBI - ARRAY_EXPRESS ]   DDX3X [ SEEK ]   DDX3X [ MEM ]
Gene Expression Viewer (FireBrowse)DDX3X [ Firebrowse - Broad ]
GenevisibleExpression of DDX3X in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1654
GTEX Portal (Tissue expression)DDX3X
Human Protein AtlasENSG00000215301-DDX3X [pathology]   [cell]   [tissue]
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
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
PDB (RSDB)2I4I    2JGN    3JRV    4O2C    4O2E    4O2F    4PX9    4PXA    5E7I    5E7J    5E7M    6CZ5    6O5F   
PDB Europe2I4I    2JGN    3JRV    4O2C    4O2E    4O2F    4PX9    4PXA    5E7I    5E7J    5E7M    6CZ5    6O5F   
PDB (PDBSum)2I4I    2JGN    3JRV    4O2C    4O2E    4O2F    4PX9    4PXA    5E7I    5E7J    5E7M    6CZ5    6O5F   
PDB (IMB)2I4I    2JGN    3JRV    4O2C    4O2E    4O2F    4PX9    4PXA    5E7I    5E7J    5E7M    6CZ5    6O5F   
Structural Biology KnowledgeBase2I4I    2JGN    3JRV    4O2C    4O2E    4O2F    4PX9    4PXA    5E7I    5E7J    5E7M    6CZ5    6O5F   
SCOP (Structural Classification of Proteins)2I4I    2JGN    3JRV    4O2C    4O2E    4O2F    4PX9    4PXA    5E7I    5E7J    5E7M    6CZ5    6O5F   
CATH (Classification of proteins structures)2I4I    2JGN    3JRV    4O2C    4O2E    4O2F    4PX9    4PXA    5E7I    5E7J    5E7M    6CZ5    6O5F   
SuperfamilyO00571
AlphaFold pdb e-kbO00571   
Human Protein Atlas [tissue]ENSG00000215301-DDX3X [tissue]
HPRD02154
Protein Interaction databases
DIP (DOE-UCLA)O00571
IntAct (EBI)O00571
BioGRIDDDX3X
STRING (EMBL)DDX3X
ZODIACDDX3X
Ontologies - Pathways
QuickGOO00571
Ontology : AmiGODNA binding  DNA helicase activity  RNA binding  RNA binding  RNA binding  RNA helicase activity  RNA helicase activity  mRNA binding  GTPase activity  protein binding  ATP binding  extracellular region  nucleus  nucleus  nucleoplasm  cytoplasm  cytoplasm  centrosome  cytosol  plasma membrane  translational initiation  chromosome segregation  gamete generation  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  ATPase  nucleoside-triphosphatase activity  negative regulation of translation  lamellipodium  cell differentiation  positive regulation of cell growth  negative regulation of cell growth  primary miRNA processing  cell leading edge  negative regulation of protein-containing complex assembly  translation initiation factor binding  positive regulation of protein autophosphorylation  DNA duplex unwinding  positive regulation of interferon-alpha production  positive regulation of interferon-beta production  positive regulation of interferon-beta production  RNA strand annealing activity  stress granule assembly  positive regulation of toll-like receptor 7 signaling pathway  positive regulation of toll-like receptor 8 signaling pathway  secretory granule lumen  intracellular signal transduction  RNA stem-loop binding  positive regulation of translation in response to endoplasmic reticulum stress  mature ribosome assembly  gamma-tubulin binding  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  P granule  CTPase activity  positive regulation of cysteine-type endopeptidase activity involved in apoptotic process  neutrophil degranulation  protein serine/threonine kinase activator activity  positive regulation of viral genome replication  innate immune response  cadherin binding  positive regulation of translation  positive regulation of translation  positive regulation of transcription by RNA polymerase II  positive regulation of transcription by RNA polymerase II  positive regulation of translational initiation  mRNA 5'-UTR binding  lipid homeostasis  extracellular exosome  cellular response to arsenic-containing substance  cellular response to osmotic stress  positive regulation of chemokine (C-C motif) ligand 5 production  positive regulation of protein serine/threonine kinase activity  NLRP3 inflammasome complex  positive regulation of canonical Wnt signaling pathway  intrinsic apoptotic signaling pathway  cellular response to virus  ATP hydrolysis activity  positive regulation of G1/S transition of mitotic cell cycle  positive regulation of NLRP3 inflammasome complex assembly  negative regulation of NIK/NF-kappaB signaling  positive regulation of NIK/NF-kappaB signaling  positive regulation of protein acetylation  negative regulation of extrinsic apoptotic signaling pathway via death domain receptors  positive regulation of protein K63-linked ubiquitination  protein localization to cytoplasmic stress granule  ficolin-1-rich granule lumen  negative regulation of intrinsic apoptotic signaling pathway  
Ontology : EGO-EBIDNA binding  DNA helicase activity  RNA binding  RNA binding  RNA binding  RNA helicase activity  RNA helicase activity  mRNA binding  GTPase activity  protein binding  ATP binding  extracellular region  nucleus  nucleus  nucleoplasm  cytoplasm  cytoplasm  centrosome  cytosol  plasma membrane  translational initiation  chromosome segregation  gamete generation  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  ATPase  nucleoside-triphosphatase activity  negative regulation of translation  lamellipodium  cell differentiation  positive regulation of cell growth  negative regulation of cell growth  primary miRNA processing  cell leading edge  negative regulation of protein-containing complex assembly  translation initiation factor binding  positive regulation of protein autophosphorylation  DNA duplex unwinding  positive regulation of interferon-alpha production  positive regulation of interferon-beta production  positive regulation of interferon-beta production  RNA strand annealing activity  stress granule assembly  positive regulation of toll-like receptor 7 signaling pathway  positive regulation of toll-like receptor 8 signaling pathway  secretory granule lumen  intracellular signal transduction  RNA stem-loop binding  positive regulation of translation in response to endoplasmic reticulum stress  mature ribosome assembly  gamma-tubulin binding  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  P granule  CTPase activity  positive regulation of cysteine-type endopeptidase activity involved in apoptotic process  neutrophil degranulation  protein serine/threonine kinase activator activity  positive regulation of viral genome replication  innate immune response  cadherin binding  positive regulation of translation  positive regulation of translation  positive regulation of transcription by RNA polymerase II  positive regulation of transcription by RNA polymerase II  positive regulation of translational initiation  mRNA 5'-UTR binding  lipid homeostasis  extracellular exosome  cellular response to arsenic-containing substance  cellular response to osmotic stress  positive regulation of chemokine (C-C motif) ligand 5 production  positive regulation of protein serine/threonine kinase activity  NLRP3 inflammasome complex  positive regulation of canonical Wnt signaling pathway  intrinsic apoptotic signaling pathway  cellular response to virus  ATP hydrolysis activity  positive regulation of G1/S transition of mitotic cell cycle  positive regulation of NLRP3 inflammasome complex assembly  negative regulation of NIK/NF-kappaB signaling  positive regulation of NIK/NF-kappaB signaling  positive regulation of protein acetylation  negative regulation of extrinsic apoptotic signaling pathway via death domain receptors  positive regulation of protein K63-linked ubiquitination  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
Homologs : HomoloGeneDDX3X
Homology/Alignments : Family Browser (UCSC)DDX3X
Gene fusions - Rearrangements
Fusion : MitelmanDDX3X/MLLT10 [Xp11.4/10p12.31]  
Fusion : MitelmanDDX3X/PRKD1 [Xp11.4/14q12]  
Fusion : MitelmanMLLT10/DDX3X [10p12.31/Xp11.4]  
Fusion : QuiverDDX3X
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerDDX3X [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)DDX3X
dbVarDDX3X
ClinVarDDX3X
MonarchDDX3X
1000_GenomesDDX3X 
Exome Variant ServerDDX3X
GNOMAD BrowserENSG00000215301
Varsome BrowserDDX3X
ACMGDDX3X variants
VarityO00571
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]  
Somatic Mutations in Cancer : COSMIC3DDDX3X
Mutations and Diseases : HGMDDDX3X
intOGen PortalDDX3X
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaDDX3X
DgiDB (Drug Gene Interaction Database)DDX3X
DoCM (Curated mutations)DDX3X
CIViC (Clinical Interpretations of Variants in Cancer)DDX3X
Cancer3DDDX3X
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM300160    300958   
Orphanet23717    14434   
DisGeNETDDX3X
MedgenDDX3X
Genetic Testing Registry DDX3X
NextProtO00571 [Medical]
GENETestsDDX3X
Target ValidationDDX3X
Huge Navigator DDX3X [HugePedia]
ClinGenDDX3X
Clinical trials, drugs, therapy
MyCancerGenomeDDX3X
Protein Interactions : CTDDDX3X
Pharm GKB GenePA27216
PharosO00571
Clinical trialDDX3X
Miscellaneous
canSAR (ICR)DDX3X
HarmonizomeDDX3X
DataMed IndexDDX3X
Probes
Litterature
PubMed341 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXDDX3X
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Mon Oct 4 15:06:23 CEST 2021
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