Atlas of Genetics and Cytogenetics in Oncology and Haematology

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DDX50 (DExD-box helicase 50)

Identity

Alias_namesDEAD (Asp-Glu-Ala-Asp) box polypeptide 50
DEAD-box helicase 50
Alias_symbol (synonym)GU2
MGC3199
GUB
RH-II/GuB
Other aliasmcdrh
HGNC (Hugo) DDX50
LocusID (NCBI) 79009
Atlas_Id 62370
Location 10q22.1  [Link to chromosome band 10q22]
Location_base_pair Starts at 68901278 and ends at 68946847 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)
DDX50 (10q22.1) / CDK13 (7p14.1)DDX50 (10q22.1) / HNRNPH3 (10q21.3)DDX50 (10q22.1) / SCRN1 (7p14.3)
DDX50 (10q22.1) / WASF1 (6q21)GNB1 (1p36.33) / DDX50 (10q22.1)KAT6B (10q22.2) / DDX50 (10q22.1)

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

 

External links

Nomenclature
HGNC (Hugo)DDX50   17906
Cards
Entrez_Gene (NCBI)DDX50  79009  DExD-box helicase 50
AliasesGU2; GUB; RH-II/GuB; mcdrh
GeneCards (Weizmann)DDX50
Ensembl hg19 (Hinxton)ENSG00000107625 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000107625 [Gene_View]  ENSG00000107625 [Sequence]  chr10:68901278-68946847 [Contig_View]  DDX50 [Vega]
ICGC DataPortalENSG00000107625
TCGA cBioPortalDDX50
AceView (NCBI)DDX50
Genatlas (Paris)DDX50
WikiGenes79009
SOURCE (Princeton)DDX50
Genetics Home Reference (NIH)DDX50
Genomic and cartography
GoldenPath hg38 (UCSC)DDX50  -     chr10:68901278-68946847 +  10q22.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)DDX50  -     10q22.1   [Description]    (hg19-Feb_2009)
EnsemblDDX50 - 10q22.1 [CytoView hg19]  DDX50 - 10q22.1 [CytoView hg38]
Mapping of homologs : NCBIDDX50 [Mapview hg19]  DDX50 [Mapview hg38]
OMIM610373   
Gene and transcription
Genbank (Entrez)AB051075 AF334103 AK223297 AK293577 AK301431
RefSeq transcript (Entrez)NM_024045
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)DDX50
Cluster EST : UnigeneHs.522984 [ NCBI ]
CGAP (NCI)Hs.522984
Alternative Splicing GalleryENSG00000107625
Gene ExpressionDDX50 [ NCBI-GEO ]   DDX50 [ EBI - ARRAY_EXPRESS ]   DDX50 [ SEEK ]   DDX50 [ MEM ]
Gene Expression Viewer (FireBrowse)DDX50 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)79009
GTEX Portal (Tissue expression)DDX50
Human Protein AtlasENSG00000107625-DDX50 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9BQ39   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9BQ39  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9BQ39
Splice isoforms : SwissVarQ9BQ39
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 ]   
PhosPhoSitePlusQ9BQ39
Domaine pattern : Prosite (Expaxy)HELICASE_ATP_BIND_1 (PS51192)    HELICASE_CTER (PS51194)    Q_MOTIF (PS51195)   
Domains : Interpro (EBI)DEAD/DEAH_box_helicase_dom    GUCT    Helicase_ATP-bd    Helicase_C    P-loop_NTPase    RNA_helicase_DEAD_Q_motif    RRM_dom   
Domain families : Pfam (Sanger)DEAD (PF00270)    GUCT (PF08152)    Helicase_C (PF00271)   
Domain families : Pfam (NCBI)pfam00270    pfam08152    pfam00271   
Domain families : Smart (EMBL)DEXDc (SM00487)  HELICc (SM00490)  
Conserved Domain (NCBI)DDX50
DMDM Disease mutations79009
Blocks (Seattle)DDX50
PDB (SRS)2.00E+29   
PDB (PDBSum)2.00E+29   
PDB (IMB)2.00E+29   
PDB (RSDB)2.00E+29   
Structural Biology KnowledgeBase2.00E+29   
SCOP (Structural Classification of Proteins)2.00E+29   
CATH (Classification of proteins structures)2.00E+29   
SuperfamilyQ9BQ39
Human Protein Atlas [tissue]ENSG00000107625-DDX50 [tissue]
Peptide AtlasQ9BQ39
HPRD09910
IPIIPI00031554   IPI01011782   
Protein Interaction databases
DIP (DOE-UCLA)Q9BQ39
IntAct (EBI)Q9BQ39
FunCoupENSG00000107625
BioGRIDDDX50
STRING (EMBL)DDX50
ZODIACDDX50
Ontologies - Pathways
QuickGOQ9BQ39
Ontology : AmiGORNA binding  ATP-dependent RNA helicase activity  ATP binding  nucleolus  plasma membrane  RNA secondary structure unwinding  membrane  
Ontology : EGO-EBIRNA binding  ATP-dependent RNA helicase activity  ATP binding  nucleolus  plasma membrane  RNA secondary structure unwinding  membrane  
Pathways : KEGGFolate biosynthesis    Starch and sucrose metabolism   
NDEx NetworkDDX50
Atlas of Cancer Signalling NetworkDDX50
Wikipedia pathwaysDDX50
Orthology - Evolution
OrthoDB79009
GeneTree (enSembl)ENSG00000107625
Phylogenetic Trees/Animal Genes : TreeFamDDX50
HOVERGENQ9BQ39
HOGENOMQ9BQ39
Homologs : HomoloGeneDDX50
Homology/Alignments : Family Browser (UCSC)DDX50
Gene fusions - Rearrangements
Fusion : QuiverDDX50
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerDDX50 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)DDX50
dbVarDDX50
ClinVarDDX50
1000_GenomesDDX50 
Exome Variant ServerDDX50
ExAC (Exome Aggregation Consortium)ENSG00000107625
GNOMAD BrowserENSG00000107625
Varsome BrowserDDX50
Genetic variants : HAPMAP79009
Genomic Variants (DGV)DDX50 [DGVbeta]
DECIPHERDDX50 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisDDX50 
Mutations
ICGC Data PortalDDX50 
TCGA Data PortalDDX50 
Broad Tumor PortalDDX50
OASIS PortalDDX50 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICDDX50  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDDDX50
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 DDX50
DgiDB (Drug Gene Interaction Database)DDX50
DoCM (Curated mutations)DDX50 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)DDX50 (select a term)
intoGenDDX50
Cancer3DDDX50(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM610373   
Orphanet
DisGeNETDDX50
MedgenDDX50
Genetic Testing Registry DDX50
NextProtQ9BQ39 [Medical]
TSGene79009
GENETestsDDX50
Target ValidationDDX50
Huge Navigator DDX50 [HugePedia]
snp3D : Map Gene to Disease79009
BioCentury BCIQDDX50
ClinGenDDX50
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD79009
Chemical/Pharm GKB GenePA134948525
Clinical trialDDX50
Miscellaneous
canSAR (ICR)DDX50 (select the gene name)
Probes
Litterature
PubMed1 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineDDX50
EVEXDDX50
GoPubMedDDX50
iHOPDDX50
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Jul 30 13:42:20 CEST 2018
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