Atlas of Genetics and Cytogenetics in Oncology and Haematology

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DDX47 (DEAD-box helicase 47)

Identity

Alias_namesDEAD (Asp-Glu-Ala-Asp) box polypeptide 47
Alias_symbol (synonym)DKFZp564O176
FLJ30012
HQ0256
RRP3
Other aliasE4-DBP
MSTP162
HGNC (Hugo) DDX47
LocusID (NCBI) 51202
Atlas_Id 47093
Location 12p13.1  [Link to chromosome band 12p13]
Location_base_pair Starts at 12813346 and ends at 12829981 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)
DDX47 (12p13.1) / AIM1 (6q21)DDX47 (12p13.1) / NPC2 (14q24.3)ZFAS1 (20q13.13) / DDX47 (12p13.1)

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

 

Other Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(12;21)(p13;q22) RUNX1/DDX47

External links

Nomenclature
HGNC (Hugo)DDX47   18682
Cards
Entrez_Gene (NCBI)DDX47  51202  DEAD-box helicase 47
AliasesE4-DBP; HQ0256; MSTP162; RRP3
GeneCards (Weizmann)DDX47
Ensembl hg19 (Hinxton)ENSG00000213782 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000213782 [Gene_View]  ENSG00000213782 [Sequence]  chr12:12813346-12829981 [Contig_View]  DDX47 [Vega]
ICGC DataPortalENSG00000213782
TCGA cBioPortalDDX47
AceView (NCBI)DDX47
Genatlas (Paris)DDX47
WikiGenes51202
SOURCE (Princeton)DDX47
Genetics Home Reference (NIH)DDX47
Genomic and cartography
GoldenPath hg38 (UCSC)DDX47  -     chr12:12813346-12829981 +  12p13.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)DDX47  -     12p13.1   [Description]    (hg19-Feb_2009)
GoldenPathDDX47 - 12p13.1 [CytoView hg19]  DDX47 - 12p13.1 [CytoView hg38]
ImmunoBaseENSG00000213782
Mapping of homologs : NCBIDDX47 [Mapview hg19]  DDX47 [Mapview hg38]
OMIM615428   
Gene and transcription
Genbank (Entrez)AF078843 AF190165 AJ276704 AK054574 AK222940
RefSeq transcript (Entrez)NM_016355 NM_201224
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)DDX47
Cluster EST : UnigeneHs.719938 [ NCBI ]
CGAP (NCI)Hs.719938
Alternative Splicing GalleryENSG00000213782
Gene ExpressionDDX47 [ NCBI-GEO ]   DDX47 [ EBI - ARRAY_EXPRESS ]   DDX47 [ SEEK ]   DDX47 [ MEM ]
Gene Expression Viewer (FireBrowse)DDX47 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)51202
GTEX Portal (Tissue expression)DDX47
Human Protein AtlasENSG00000213782-DDX47 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9H0S4   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9H0S4  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9H0S4
Splice isoforms : SwissVarQ9H0S4
PhosPhoSitePlusQ9H0S4
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)DDX47
DMDM Disease mutations51202
Blocks (Seattle)DDX47
PDB (RSDB)3BER   
PDB Europe3BER   
PDB (PDBSum)3BER   
PDB (IMB)3BER   
Structural Biology KnowledgeBase3BER   
SCOP (Structural Classification of Proteins)3BER   
CATH (Classification of proteins structures)3BER   
SuperfamilyQ9H0S4
Human Protein Atlas [tissue]ENSG00000213782-DDX47 [tissue]
Peptide AtlasQ9H0S4
HPRD10863
IPIIPI00023972   IPI00792829   IPI00397372   IPI00792278   
Protein Interaction databases
DIP (DOE-UCLA)Q9H0S4
IntAct (EBI)Q9H0S4
FunCoupENSG00000213782
BioGRIDDDX47
STRING (EMBL)DDX47
ZODIACDDX47
Ontologies - Pathways
QuickGOQ9H0S4
Ontology : AmiGORNA binding  RNA binding  RNA helicase activity  RNA helicase activity  protein binding  ATP binding  nucleus  nucleoplasm  nucleolus  rRNA processing  rRNA processing  rRNA processing  mRNA processing  RNA splicing  extrinsic apoptotic signaling pathway via death domain receptors  membrane  
Ontology : EGO-EBIRNA binding  RNA binding  RNA helicase activity  RNA helicase activity  protein binding  ATP binding  nucleus  nucleoplasm  nucleolus  rRNA processing  rRNA processing  rRNA processing  mRNA processing  RNA splicing  extrinsic apoptotic signaling pathway via death domain receptors  membrane  
NDEx NetworkDDX47
Atlas of Cancer Signalling NetworkDDX47
Wikipedia pathwaysDDX47
Orthology - Evolution
OrthoDB51202
GeneTree (enSembl)ENSG00000213782
Phylogenetic Trees/Animal Genes : TreeFamDDX47
HOGENOMQ9H0S4
Homologs : HomoloGeneDDX47
Homology/Alignments : Family Browser (UCSC)DDX47
Gene fusions - Rearrangements
Fusion Cancer (Beijing)DDX47 [12p13.1]  -  NPC2 [14q24.3]  [FUSC003537]
Fusion : QuiverDDX47
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerDDX47 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)DDX47
dbVarDDX47
ClinVarDDX47
1000_GenomesDDX47 
Exome Variant ServerDDX47
ExAC (Exome Aggregation Consortium)ENSG00000213782
GNOMAD BrowserENSG00000213782
Varsome BrowserDDX47
Genetic variants : HAPMAP51202
Genomic Variants (DGV)DDX47 [DGVbeta]
DECIPHERDDX47 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisDDX47 
Mutations
ICGC Data PortalDDX47 
TCGA Data PortalDDX47 
Broad Tumor PortalDDX47
OASIS PortalDDX47 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICDDX47  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DDDX47
Mutations and Diseases : HGMDDDX47
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
BioMutasearch DDX47
DgiDB (Drug Gene Interaction Database)DDX47
DoCM (Curated mutations)DDX47 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)DDX47 (select a term)
intoGenDDX47
Cancer3DDDX47(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM615428   
Orphanet
DisGeNETDDX47
MedgenDDX47
Genetic Testing Registry DDX47
NextProtQ9H0S4 [Medical]
TSGene51202
GENETestsDDX47
Target ValidationDDX47
Huge Navigator DDX47 [HugePedia]
snp3D : Map Gene to Disease51202
BioCentury BCIQDDX47
ClinGenDDX47
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD51202
Chemical/Pharm GKB GenePA134918403
Clinical trialDDX47
Miscellaneous
canSAR (ICR)DDX47 (select the gene name)
DataMed IndexDDX47
Probes
Litterature
PubMed63 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineDDX47
EVEXDDX47
GoPubMedDDX47
iHOPDDX47
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 : Wed Nov 13 17:40:04 CET 2019
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