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DDX41 (DEAD-box helicase 41)

Identity

Alias_namesDEAD (Asp-Glu-Ala-Asp) box polypeptide 41
Alias_symbol (synonym)ABS
MGC8828
Other aliasMPLPF
HGNC (Hugo) DDX41
LocusID (NCBI) 51428
Atlas_Id 46682
Location 5q35.3  [Link to chromosome band 5q35]
Location_base_pair Starts at 177511577 and ends at 177517326 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)
DDX41 (5q35.3) / MBP (18q23)JUP (17q21.2) / DDX41 (5q35.3)

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)DDX41   18674
Cards
Entrez_Gene (NCBI)DDX41  51428  DEAD-box helicase 41
AliasesABS; MPLPF
GeneCards (Weizmann)DDX41
Ensembl hg19 (Hinxton)ENSG00000183258 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000183258 [Gene_View]  chr5:177511577-177517326 [Contig_View]  DDX41 [Vega]
ICGC DataPortalENSG00000183258
TCGA cBioPortalDDX41
AceView (NCBI)DDX41
Genatlas (Paris)DDX41
WikiGenes51428
SOURCE (Princeton)DDX41
Genetics Home Reference (NIH)DDX41
Genomic and cartography
GoldenPath hg38 (UCSC)DDX41  -     chr5:177511577-177517326 -  5q35.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)DDX41  -     5q35.3   [Description]    (hg19-Feb_2009)
EnsemblDDX41 - 5q35.3 [CytoView hg19]  DDX41 - 5q35.3 [CytoView hg38]
Mapping of homologs : NCBIDDX41 [Mapview hg19]  DDX41 [Mapview hg38]
OMIM608170   616871   
Gene and transcription
Genbank (Entrez)AF195417 AK001255 AK026117 AK027768 AK091545
RefSeq transcript (Entrez)NM_001321732 NM_001321830 NM_016222
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)DDX41
Cluster EST : UnigeneHs.484288 [ NCBI ]
CGAP (NCI)Hs.484288
Alternative Splicing GalleryENSG00000183258
Gene ExpressionDDX41 [ NCBI-GEO ]   DDX41 [ EBI - ARRAY_EXPRESS ]   DDX41 [ SEEK ]   DDX41 [ MEM ]
Gene Expression Viewer (FireBrowse)DDX41 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)51428
GTEX Portal (Tissue expression)DDX41
Human Protein AtlasENSG00000183258-DDX41 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UJV9   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9UJV9  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9UJV9
Splice isoforms : SwissVarQ9UJV9
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 ]   
PhosPhoSitePlusQ9UJV9
Domaine pattern : Prosite (Expaxy)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_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)DDX41
DMDM Disease mutations51428
Blocks (Seattle)DDX41
PDB (SRS)2P6N    5GVR    5GVS    5H1Y   
PDB (PDBSum)2P6N    5GVR    5GVS    5H1Y   
PDB (IMB)2P6N    5GVR    5GVS    5H1Y   
PDB (RSDB)2P6N    5GVR    5GVS    5H1Y   
Structural Biology KnowledgeBase2P6N    5GVR    5GVS    5H1Y   
SCOP (Structural Classification of Proteins)2P6N    5GVR    5GVS    5H1Y   
CATH (Classification of proteins structures)2P6N    5GVR    5GVS    5H1Y   
SuperfamilyQ9UJV9
Human Protein Atlas [tissue]ENSG00000183258-DDX41 [tissue]
Peptide AtlasQ9UJV9
HPRD10490
IPIIPI00007208   IPI00964629   IPI00965385   IPI00965661   IPI00968277   IPI00964323   
Protein Interaction databases
DIP (DOE-UCLA)Q9UJV9
IntAct (EBI)Q9UJV9
FunCoupENSG00000183258
BioGRIDDDX41
STRING (EMBL)DDX41
ZODIACDDX41
Ontologies - Pathways
QuickGOQ9UJV9
Ontology : AmiGOmRNA splicing, via spliceosome  mRNA splicing, via spliceosome  DNA binding  RNA binding  ATP-dependent RNA helicase activity  protein binding  ATP binding  nucleus  spliceosomal complex  endoplasmic reticulum  cytosol  apoptotic process  cell proliferation  RNA secondary structure unwinding  membrane  cell differentiation  regulation of type I interferon production  positive regulation of type I interferon production  cellular response to interferon-beta  positive regulation of transcription from RNA polymerase II promoter  metal ion binding  defense response to virus  catalytic step 2 spliceosome  
Ontology : EGO-EBImRNA splicing, via spliceosome  mRNA splicing, via spliceosome  DNA binding  RNA binding  ATP-dependent RNA helicase activity  protein binding  ATP binding  nucleus  spliceosomal complex  endoplasmic reticulum  cytosol  apoptotic process  cell proliferation  RNA secondary structure unwinding  membrane  cell differentiation  regulation of type I interferon production  positive regulation of type I interferon production  cellular response to interferon-beta  positive regulation of transcription from RNA polymerase II promoter  metal ion binding  defense response to virus  catalytic step 2 spliceosome  
NDEx NetworkDDX41
Atlas of Cancer Signalling NetworkDDX41
Wikipedia pathwaysDDX41
Orthology - Evolution
OrthoDB51428
GeneTree (enSembl)ENSG00000183258
Phylogenetic Trees/Animal Genes : TreeFamDDX41
HOVERGENQ9UJV9
HOGENOMQ9UJV9
Homologs : HomoloGeneDDX41
Homology/Alignments : Family Browser (UCSC)DDX41
Gene fusions - Rearrangements
Tumor Fusion PortalDDX41
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerDDX41 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)DDX41
dbVarDDX41
ClinVarDDX41
1000_GenomesDDX41 
Exome Variant ServerDDX41
ExAC (Exome Aggregation Consortium)ENSG00000183258
GNOMAD BrowserENSG00000183258
Genetic variants : HAPMAP51428
Genomic Variants (DGV)DDX41 [DGVbeta]
DECIPHERDDX41 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisDDX41 
Mutations
ICGC Data PortalDDX41 
TCGA Data PortalDDX41 
Broad Tumor PortalDDX41
OASIS PortalDDX41 [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDDDX41
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 DDX41
DgiDB (Drug Gene Interaction Database)DDX41
DoCM (Curated mutations)DDX41 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)DDX41 (select a term)
intoGenDDX41
Cancer3DDDX41(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608170    616871   
Orphanet
DisGeNETDDX41
MedgenDDX41
Genetic Testing Registry DDX41
NextProtQ9UJV9 [Medical]
TSGene51428
GENETestsDDX41
Target ValidationDDX41
Huge Navigator DDX41 [HugePedia]
snp3D : Map Gene to Disease51428
BioCentury BCIQDDX41
ClinGenDDX41
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD51428
Chemical/Pharm GKB GenePA134908862
Clinical trialDDX41
Miscellaneous
canSAR (ICR)DDX41 (select the gene name)
Probes
Litterature
PubMed35 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineDDX41
EVEXDDX41
GoPubMedDDX41
iHOPDDX41
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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