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DDX42 (DEAD-box helicase 42)

Identity

Alias (NCBI)DDX42P
RHELP
RNAHP
SF3B8
SF3b125
HGNC (Hugo) DDX42
HGNC Alias symbRNAHP
RHELP
SF3b125
SF3B8
HGNC Alias namesplicing factor 3b, subunit 8
HGNC Previous nameDEAD (Asp-Glu-Ala-Asp) box polypeptide 42
 DEAD (Asp-Glu-Ala-Asp) box helicase 42
LocusID (NCBI) 11325
Atlas_Id 47044
Location 17q23.3  [Link to chromosome band 17q23]
Location_base_pair Starts at 63774170 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    DEAD-box helicase 42
AliasesDDX42P; RHELP; RNAHP; SF3B8; 
SF3b125
GeneCards (Weizmann)DDX42
Ensembl hg19 (Hinxton)ENSG00000198231 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000198231 [Gene_View]  ENSG00000198231 [Sequence]  chr17:63774170-63819317 [Contig_View]  DDX42 [Vega]
ICGC DataPortalENSG00000198231
TCGA cBioPortalDDX42
AceView (NCBI)DDX42
Genatlas (Paris)DDX42
SOURCE (Princeton)DDX42
Genetics Home Reference (NIH)DDX42
Genomic and cartography
GoldenPath hg38 (UCSC)DDX42  -     chr17:63774170-63819317 +  17q23.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)DDX42  -     17q23.3   [Description]    (hg19-Feb_2009)
GoldenPathDDX42 - 17q23.3 [CytoView hg19]  DDX42 - 17q23.3 [CytoView hg38]
ImmunoBaseENSG00000198231
Genome Data Viewer NCBIDDX42 [Mapview hg19]  
OMIM613369   
Gene and transcription
Genbank (Entrez)AB036090 AF083255 AF147429 AK001964 AK095772
RefSeq transcript (Entrez)NM_007372 NM_203499
Consensus coding sequences : CCDS (NCBI)DDX42
Gene ExpressionDDX42 [ NCBI-GEO ]   DDX42 [ EBI - ARRAY_EXPRESS ]   DDX42 [ SEEK ]   DDX42 [ MEM ]
Gene Expression Viewer (FireBrowse)DDX42 [ Firebrowse - Broad ]
GenevisibleExpression of DDX42 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
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 ]   [ MEROPS ]
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
SuperfamilyQ86XP3
AlphaFold pdb e-kbQ86XP3   
Human Protein Atlas [tissue]ENSG00000198231-DDX42 [tissue]
HPRD09909
Protein Interaction databases
DIP (DOE-UCLA)Q86XP3
IntAct (EBI)Q86XP3
BioGRIDDDX42
STRING (EMBL)DDX42
ZODIACDDX42
Ontologies - Pathways
QuickGOQ86XP3
Ontology : AmiGOmRNA splicing, via spliceosome  RNA binding  RNA binding  RNA helicase activity  protein binding  ATP binding  nucleus  nucleus  nucleoplasm  cytoplasm  cytosol  protein localization  Cajal body  membrane  nuclear speck  hydrolase activity  regulation of apoptotic process  
Ontology : EGO-EBImRNA splicing, via spliceosome  RNA binding  RNA binding  RNA helicase activity  protein binding  ATP binding  nucleus  nucleus  nucleoplasm  cytoplasm  cytosol  protein localization  Cajal body  membrane  nuclear speck  hydrolase activity  regulation of apoptotic process  
Pathways : KEGGSpliceosome   
NDEx NetworkDDX42
Atlas of Cancer Signalling NetworkDDX42
Wikipedia pathwaysDDX42
Orthology - Evolution
OrthoDB11325
GeneTree (enSembl)ENSG00000198231
Phylogenetic Trees/Animal Genes : TreeFamDDX42
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]  
Fusion : MitelmanDDX42/RPS6KB1 [17q23.3/17q23.1]  
Fusion : MitelmanERN1/DDX42 [17q23.3/17q23.3]  
Fusion : MitelmanMED13/DDX42 [17q23.2/17q23.3]  
Fusion : MitelmanVEZF1/DDX42 [17q22/17q23.3]  
Fusion : QuiverDDX42
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerDDX42 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)DDX42
dbVarDDX42
ClinVarDDX42
MonarchDDX42
1000_GenomesDDX42 
Exome Variant ServerDDX42
GNOMAD BrowserENSG00000198231
Varsome BrowserDDX42
ACMGDDX42 variants
VarityQ86XP3
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]  
Somatic Mutations in Cancer : COSMIC3DDDX42
Mutations and Diseases : HGMDDDX42
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaDDX42
DgiDB (Drug Gene Interaction Database)DDX42
DoCM (Curated mutations)DDX42
CIViC (Clinical Interpretations of Variants in Cancer)DDX42
Cancer3DDDX42
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM613369   
Orphanet
DisGeNETDDX42
MedgenDDX42
Genetic Testing Registry DDX42
NextProtQ86XP3 [Medical]
GENETestsDDX42
Target ValidationDDX42
Huge Navigator DDX42 [HugePedia]
ClinGenDDX42
Clinical trials, drugs, therapy
MyCancerGenomeDDX42
Protein Interactions : CTDDDX42
Pharm GKB GenePA134875761
PharosQ86XP3
Clinical trialDDX42
Miscellaneous
canSAR (ICR)DDX42
HarmonizomeDDX42
DataMed IndexDDX42
Probes
Litterature
PubMed60 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXDDX42
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 15:06:24 CEST 2021

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