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DDX6 (DEAD-box helicase 6)

Identity

Alias (NCBI)HLR2
IDDILF
P54
RCK
Rck/p54
HGNC (Hugo) DDX6
HGNC Alias symbRCK
Rck/p54
HGNC Previous nameHLR2
HGNC Previous nameDEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 6 (RNA helicase, 54kD)
 DEAD (Asp-Glu-Ala-Asp) box polypeptide 6
 DEAD (Asp-Glu-Ala-Asp) box helicase 6
LocusID (NCBI) 1656
Atlas_Id 65
Location 11q23.3  [Link to chromosome band 11q23]
Location_base_pair Starts at 118747764 and ends at 118791164 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)
DDX6 (11q23.3)::C14orf37 (14q23.1)DDX6 (11q23.3)::DDX6 (11q23.3)DDX6 (11q23.3)::FGD4 (12p11.21)
DDX6 (11q23.3)::FOXR1 (11q23.3)DDX6 (11q23.3)::IGH (14q32.33)DDX6 (11q23.3)::RAB7A (3q21.3)
DDX6 (11q23.3)::ROBO1 (3p12.3)DDX6 (11q23.3)::SRSF11 (1p31.1)DDX6 (11q23.3)::TSPAN18 (11p11.2)
IGH (14q32.33)::DDX6 (11q23.3)IGHG1 (14q32.33)::DDX6 (11q23.3)SHB (9p13.2)::DDX6 (11q23.3)
SORL1 (11q24.1)::DDX6 (11q23.3)DDX6 11q23.3::FOXR1 11q23.3DDX6 11q23.3::TSPAN18 11p11.2
SORL1 11q24.1::DDX6 11q23.3

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) [ 5 ]
  dup (11q) in myeloid malignancies
MLL amplification in leukemia
t(9;11)(p13;q23) SHB::DDX6
t(11;11)(q23;q23) DDX6::FOXR1
t(11;14)(q23;q32) IGH::DDX6


External links

 

Nomenclature
HGNC (Hugo)DDX6   2747
Cards
Entrez_Gene (NCBI)DDX6    DEAD-box helicase 6
AliasesHLR2; IDDILF; P54; RCK; 
Rck/p54
GeneCards (Weizmann)DDX6
Ensembl hg19 (Hinxton)ENSG00000110367 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000110367 [Gene_View]  ENSG00000110367 [Sequence]  chr11:118747764-118791164 [Contig_View]  DDX6 [Vega]
ICGC DataPortalENSG00000110367
TCGA cBioPortalDDX6
AceView (NCBI)DDX6
Genatlas (Paris)DDX6
SOURCE (Princeton)DDX6
Genetics Home Reference (NIH)DDX6
Genomic and cartography
GoldenPath hg38 (UCSC)DDX6  -     chr11:118747764-118791164 -  11q23.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)DDX6  -     11q23.3   [Description]    (hg19-Feb_2009)
GoldenPathDDX6 - 11q23.3 [CytoView hg19]  DDX6 - 11q23.3 [CytoView hg38]
ImmunoBaseENSG00000110367
Genome Data Viewer NCBIDDX6 [Mapview hg19]  
OMIM600326   618653   
Gene and transcription
Genbank (Entrez)AI265778 AK021715 AK093657 AK313244 BC026228
RefSeq transcript (Entrez)NM_001257191 NM_004397
Consensus coding sequences : CCDS (NCBI)DDX6
Gene ExpressionDDX6 [ NCBI-GEO ]   DDX6 [ EBI - ARRAY_EXPRESS ]   DDX6 [ SEEK ]   DDX6 [ MEM ]
Gene Expression Viewer (FireBrowse)DDX6 [ Firebrowse - Broad ]
GenevisibleExpression of DDX6 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1656
GTEX Portal (Tissue expression)DDX6
Human Protein AtlasENSG00000110367-DDX6 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP26196   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP26196  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP26196
PhosPhoSitePlusP26196
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)DDX6
PDB (RSDB)1VEC    2WAX    2WAY    4CRW    4CT4    4CT5    5ANR    6F9S    6S8S   
PDB Europe1VEC    2WAX    2WAY    4CRW    4CT4    4CT5    5ANR    6F9S    6S8S   
PDB (PDBSum)1VEC    2WAX    2WAY    4CRW    4CT4    4CT5    5ANR    6F9S    6S8S   
PDB (IMB)1VEC    2WAX    2WAY    4CRW    4CT4    4CT5    5ANR    6F9S    6S8S   
Structural Biology KnowledgeBase1VEC    2WAX    2WAY    4CRW    4CT4    4CT5    5ANR    6F9S    6S8S   
SCOP (Structural Classification of Proteins)1VEC    2WAX    2WAY    4CRW    4CT4    4CT5    5ANR    6F9S    6S8S   
CATH (Classification of proteins structures)1VEC    2WAX    2WAY    4CRW    4CT4    4CT5    5ANR    6F9S    6S8S   
SuperfamilyP26196
AlphaFold pdb e-kbP26196   
Human Protein Atlas [tissue]ENSG00000110367-DDX6 [tissue]
HPRD02638
Protein Interaction databases
DIP (DOE-UCLA)P26196
IntAct (EBI)P26196
BioGRIDDDX6
STRING (EMBL)DDX6
ZODIACDDX6
Ontologies - Pathways
QuickGOP26196
Ontology : AmiGOheterochromatin  P-body  P-body  P-body  outer dense fiber  RNA binding  RNA helicase activity  mRNA binding  helicase activity  protein binding  ATP binding  nucleus  nucleolus  cytoplasm  mitochondrion  cytosol  cytosol  adherens junction  cytoplasmic stress granule  cytoplasmic stress granule  membrane  RISC complex  hydrolase activity  negative regulation of translation  viral RNA genome packaging  stem cell population maintenance  protein domain specific binding  chromatoid body  P-body assembly  P-body assembly  P-body assembly  P-body assembly  stress granule assembly  cytoplasmic ribonucleoprotein granule  exonucleolytic catabolism of deadenylated mRNA  cadherin binding  negative regulation of neuron differentiation  perinuclear region of cytoplasm  spermatid differentiation  concave side of sperm head  sperm annulus  positive regulation of miRNA mediated inhibition of translation  
Ontology : EGO-EBIheterochromatin  P-body  P-body  P-body  outer dense fiber  RNA binding  RNA helicase activity  mRNA binding  helicase activity  protein binding  ATP binding  nucleus  nucleolus  cytoplasm  mitochondrion  cytosol  cytosol  adherens junction  cytoplasmic stress granule  cytoplasmic stress granule  membrane  RISC complex  hydrolase activity  negative regulation of translation  viral RNA genome packaging  stem cell population maintenance  protein domain specific binding  chromatoid body  P-body assembly  P-body assembly  P-body assembly  P-body assembly  stress granule assembly  cytoplasmic ribonucleoprotein granule  exonucleolytic catabolism of deadenylated mRNA  cadherin binding  negative regulation of neuron differentiation  perinuclear region of cytoplasm  spermatid differentiation  concave side of sperm head  sperm annulus  positive regulation of miRNA mediated inhibition of translation  
Pathways : KEGGRNA degradation   
NDEx NetworkDDX6
Atlas of Cancer Signalling NetworkDDX6
Wikipedia pathwaysDDX6
Orthology - Evolution
OrthoDB1656
GeneTree (enSembl)ENSG00000110367
Phylogenetic Trees/Animal Genes : TreeFamDDX6
Homologs : HomoloGeneDDX6
Homology/Alignments : Family Browser (UCSC)DDX6
Gene fusions - Rearrangements
Fusion : MitelmanDDX6::FOXR1 [11q23.3/11q23.3]  
Fusion : MitelmanDDX6::TSPAN18 [11q23.3/11p11.2]  
Fusion : MitelmanIGH::DDX6 [14q32.33/11q23.3]  
Fusion : MitelmanSORL1::DDX6 [11q24.1/11q23.3]  
Fusion : QuiverDDX6
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerDDX6 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)DDX6
dbVarDDX6
ClinVarDDX6
MonarchDDX6
1000_GenomesDDX6 
Exome Variant ServerDDX6
GNOMAD BrowserENSG00000110367
Varsome BrowserDDX6
ACMGDDX6 variants
VarityP26196
Genomic Variants (DGV)DDX6 [DGVbeta]
DECIPHERDDX6 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisDDX6 
Mutations
ICGC Data PortalDDX6 
TCGA Data PortalDDX6 
Broad Tumor PortalDDX6
OASIS PortalDDX6 [ Somatic mutations - Copy number]
Cancer Gene: CensusDDX6 
Somatic Mutations in Cancer : COSMICDDX6  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DDDX6
Mutations and Diseases : HGMDDDX6
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaDDX6
DgiDB (Drug Gene Interaction Database)DDX6
DoCM (Curated mutations)DDX6
CIViC (Clinical Interpretations of Variants in Cancer)DDX6
Cancer3DDDX6
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600326    618653   
Orphanet
DisGeNETDDX6
MedgenDDX6
Genetic Testing Registry DDX6
NextProtP26196 [Medical]
GENETestsDDX6
Target ValidationDDX6
Huge Navigator DDX6 [HugePedia]
ClinGenDDX6
Clinical trials, drugs, therapy
MyCancerGenomeDDX6
Protein Interactions : CTDDDX6
Pharm GKB GenePA27229
PharosP26196
Clinical trialDDX6
Miscellaneous
canSAR (ICR)DDX6
HarmonizomeDDX6
ARCHS4DDX6
DataMed IndexDDX6
Probes
Litterature
PubMed173 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXDDX6
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 Jan 17 15:21:33 CET 2022

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