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DDX42 (DEAD-box helicase 42)

Identity

Alias_namessubunit 8
Alias_symbol (synonym)RNAHP
RHELP
SF3b125
SF3B8
Other aliasDDX42P
HGNC (Hugo) DDX42
LocusID (NCBI) 11325
Atlas_Id 47044
Location 17q23.3  [Link to chromosome band 17q23]
Location_base_pair Starts at 63774189 and ends at 63819317 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)
CADM3 (1q23.2) / DDX42 (17q23.3)DDX42 (17q23.3) / BRIP1 (17q23.2)DDX42 (17q23.3) / CADM3 (1q23.2)
DDX42 (17q23.3) / DCAF7 (17q23.3)DDX42 (17q23.3) / MT1F (16q12.2)DDX42 (17q23.3) / PITPNC1 (17q24.2)
DDX42 (17q23.3) / RPS6KB1 (17q23.1)DNAH10 (12q24.31) / DDX42 (17q23.3)ERN1 (17q23.3) / DDX42 (17q23.3)
MED13 (17q23.2) / DDX42 (17q23.3)PMF1-BGLAP (1q22) / DDX42 (17q23.3)PPP3CA (4q24) / DDX42 (17q23.3)
VEZF1 (17q22) / DDX42 (17q23.3)DDX42 17q23.3 / BRIP1 17q23.2DDX42 17q23.3 / DCAF7 17q23.3
DDX42 17q23.3 / RPS6KB1 17q23.1MED13 17q23.2 / DDX42 17q23.3VEZF1 17q22 / DDX42 17q23.3

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

 


External links

Nomenclature
HGNC (Hugo)DDX42   18676
Cards
Entrez_Gene (NCBI)DDX42  11325  DEAD-box helicase 42
AliasesDDX42P; RHELP; RNAHP; SF3B8; 
SF3b125
GeneCards (Weizmann)DDX42
Ensembl hg19 (Hinxton)ENSG00000198231 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000198231 [Gene_View]  chr17:63774189-63819317 [Contig_View]  DDX42 [Vega]
ICGC DataPortalENSG00000198231
TCGA cBioPortalDDX42
AceView (NCBI)DDX42
Genatlas (Paris)DDX42
WikiGenes11325
SOURCE (Princeton)DDX42
Genetics Home Reference (NIH)DDX42
Genomic and cartography
GoldenPath hg38 (UCSC)DDX42  -     chr17:63774189-63819317 +  17q23.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)DDX42  -     17q23.3   [Description]    (hg19-Feb_2009)
EnsemblDDX42 - 17q23.3 [CytoView hg19]  DDX42 - 17q23.3 [CytoView hg38]
Mapping of homologs : NCBIDDX42 [Mapview hg19]  DDX42 [Mapview hg38]
OMIM613369   
Gene and transcription
Genbank (Entrez)AB036090 AF083255 AF147429 AK001964 AK095772
RefSeq transcript (Entrez)NM_007372 NM_203499
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)DDX42
Cluster EST : UnigeneHs.702010 [ NCBI ]
CGAP (NCI)Hs.702010
Alternative Splicing GalleryENSG00000198231
Gene ExpressionDDX42 [ NCBI-GEO ]   DDX42 [ EBI - ARRAY_EXPRESS ]   DDX42 [ SEEK ]   DDX42 [ MEM ]
Gene Expression Viewer (FireBrowse)DDX42 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)11325
GTEX Portal (Tissue expression)DDX42
Human Protein AtlasENSG00000198231-DDX42 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ86XP3   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ86XP3  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ86XP3
Splice isoforms : SwissVarQ86XP3
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 ]   
PhosPhoSitePlusQ86XP3
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)DDX42
DMDM Disease mutations11325
Blocks (Seattle)DDX42
SuperfamilyQ86XP3
Human Protein Atlas [tissue]ENSG00000198231-DDX42 [tissue]
Peptide AtlasQ86XP3
HPRD09909
IPIIPI00409671   IPI00829889   IPI01011129   
Protein Interaction databases
DIP (DOE-UCLA)Q86XP3
IntAct (EBI)Q86XP3
FunCoupENSG00000198231
BioGRIDDDX42
STRING (EMBL)DDX42
ZODIACDDX42
Ontologies - Pathways
QuickGOQ86XP3
Ontology : AmiGOmRNA splicing, via spliceosome  RNA binding  ATP-dependent RNA helicase activity  protein binding  ATP binding  nucleus  nucleoplasm  cytoplasm  cytosol  protein localization  RNA secondary structure unwinding  Cajal body  membrane  nuclear speck  
Ontology : EGO-EBImRNA splicing, via spliceosome  RNA binding  ATP-dependent RNA helicase activity  protein binding  ATP binding  nucleus  nucleoplasm  cytoplasm  cytosol  protein localization  RNA secondary structure unwinding  Cajal body  membrane  nuclear speck  
Pathways : KEGGSpliceosome   
NDEx NetworkDDX42
Atlas of Cancer Signalling NetworkDDX42
Wikipedia pathwaysDDX42
Orthology - Evolution
OrthoDB11325
GeneTree (enSembl)ENSG00000198231
Phylogenetic Trees/Animal Genes : TreeFamDDX42
HOVERGENQ86XP3
HOGENOMQ86XP3
Homologs : HomoloGeneDDX42
Homology/Alignments : Family Browser (UCSC)DDX42
Gene fusions - Rearrangements
Fusion : MitelmanDDX42/BRIP1 [17q23.3/17q23.2]  
Fusion : MitelmanDDX42/DCAF7 [17q23.3/17q23.3]  [t(17;17)(q23;q23)]  
Fusion : MitelmanDDX42/RPS6KB1 [17q23.3/17q23.1]  [t(17;17)(q23;q23)]  
Fusion : MitelmanERN1/DDX42 [17q23.3/17q23.3]  [t(17;17)(q23;q23)]  
Fusion : MitelmanMED13/DDX42 [17q23.2/17q23.3]  [t(17;17)(q23;q23)]  
Fusion : MitelmanVEZF1/DDX42 [17q22/17q23.3]  [t(17;17)(q22;q23)]  
Fusion: TCGA_MDACCDDX42 17q23.3 BRIP1 17q23.2 BRCA
Fusion: TCGA_MDACCDDX42 17q23.3 DCAF7 17q23.3 BRCA
Fusion: TCGA_MDACCDDX42 17q23.3 RPS6KB1 17q23.1 BRCA
Fusion: TCGA_MDACCMED13 17q23.2 DDX42 17q23.3 LUAD
Fusion: TCGA_MDACCVEZF1 17q22 DDX42 17q23.3 LUSC
Tumor Fusion PortalDDX42
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerDDX42 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)DDX42
dbVarDDX42
ClinVarDDX42
1000_GenomesDDX42 
Exome Variant ServerDDX42
ExAC (Exome Aggregation Consortium)ENSG00000198231
GNOMAD BrowserENSG00000198231
Genetic variants : HAPMAP11325
Genomic Variants (DGV)DDX42 [DGVbeta]
DECIPHERDDX42 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisDDX42 
Mutations
ICGC Data PortalDDX42 
TCGA Data PortalDDX42 
Broad Tumor PortalDDX42
OASIS PortalDDX42 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICDDX42  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDDDX42
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 DDX42
DgiDB (Drug Gene Interaction Database)DDX42
DoCM (Curated mutations)DDX42 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)DDX42 (select a term)
intoGenDDX42
Cancer3DDDX42(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM613369   
Orphanet
DisGeNETDDX42
MedgenDDX42
Genetic Testing Registry DDX42
NextProtQ86XP3 [Medical]
TSGene11325
GENETestsDDX42
Target ValidationDDX42
Huge Navigator DDX42 [HugePedia]
snp3D : Map Gene to Disease11325
BioCentury BCIQDDX42
ClinGenDDX42
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD11325
Chemical/Pharm GKB GenePA134875761
Clinical trialDDX42
Miscellaneous
canSAR (ICR)DDX42 (select the gene name)
Probes
Litterature
PubMed36 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineDDX42
EVEXDDX42
GoPubMedDDX42
iHOPDDX42
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Nov 21 14:10:15 CET 2017

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