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DDX46 (DEAD-box helicase 46)

Identity

Alias (NCBI)PRPF5
Prp5
HGNC (Hugo) DDX46
HGNC Alias symbKIAA0801
FLJ25329
PRPF5
Prp5
HGNC Previous nameDEAD (Asp-Glu-Ala-Asp) box polypeptide 46
LocusID (NCBI) 9879
Atlas_Id 46911
Location 5q31.1  [Link to chromosome band 5q31]
Location_base_pair Starts at 134758779 and ends at 134831121 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)
DDX46 (5q31.1) / C5orf24 (5q31.1)DDX46 (5q31.1) / DDX46 (5q31.1)DDX46 (5q31.1) / STARD13 (13q13.1)
DMD (Xp21.2) / DDX46 (5q31.1)HHIP (4q31.21) / DDX46 (5q31.1)NPIPA1 (16p13.11) / DDX46 (5q31.1)

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)DDX46   18681
Cards
Entrez_Gene (NCBI)DDX46    DEAD-box helicase 46
AliasesPRPF5; Prp5
GeneCards (Weizmann)DDX46
Ensembl hg19 (Hinxton)ENSG00000145833 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000145833 [Gene_View]  ENSG00000145833 [Sequence]  chr5:134758779-134831121 [Contig_View]  DDX46 [Vega]
ICGC DataPortalENSG00000145833
TCGA cBioPortalDDX46
AceView (NCBI)DDX46
Genatlas (Paris)DDX46
SOURCE (Princeton)DDX46
Genetics Home Reference (NIH)DDX46
Genomic and cartography
GoldenPath hg38 (UCSC)DDX46  -     chr5:134758779-134831121 +  5q31.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)DDX46  -     5q31.1   [Description]    (hg19-Feb_2009)
GoldenPathDDX46 - 5q31.1 [CytoView hg19]  DDX46 - 5q31.1 [CytoView hg38]
ImmunoBaseENSG00000145833
genome Data Viewer NCBIDDX46 [Mapview hg19]  
OMIM617848   
Gene and transcription
Genbank (Entrez)AB018344 AF106680 AI003503 AK058058 AK126011
RefSeq transcript (Entrez)NM_001300860 NM_014829
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)DDX46
Alternative Splicing GalleryENSG00000145833
Gene ExpressionDDX46 [ NCBI-GEO ]   DDX46 [ EBI - ARRAY_EXPRESS ]   DDX46 [ SEEK ]   DDX46 [ MEM ]
Gene Expression Viewer (FireBrowse)DDX46 [ Firebrowse - Broad ]
GenevisibleExpression of DDX46 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9879
GTEX Portal (Tissue expression)DDX46
Human Protein AtlasENSG00000145833-DDX46 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ7L014   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ7L014  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ7L014
Splice isoforms : SwissVarQ7L014
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 ]
PhosPhoSitePlusQ7L014
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)DDX46
Blocks (Seattle)DDX46
SuperfamilyQ7L014
Human Protein Atlas [tissue]ENSG00000145833-DDX46 [tissue]
Peptide AtlasQ7L014
HPRD10862
IPIIPI00329791   IPI01011793   IPI00939523   IPI00967303   IPI00965542   IPI00967599   
Protein Interaction databases
DIP (DOE-UCLA)Q7L014
IntAct (EBI)Q7L014
BioGRIDDDX46
STRING (EMBL)DDX46
ZODIACDDX46
Ontologies - Pathways
QuickGOQ7L014
Ontology : AmiGOmRNA splicing, via spliceosome  mRNA splicing, via spliceosome  fibrillar center  RNA binding  ATP binding  nucleus  nucleus  nucleoplasm  Cajal body  membrane  nuclear speck  
Ontology : EGO-EBImRNA splicing, via spliceosome  mRNA splicing, via spliceosome  fibrillar center  RNA binding  ATP binding  nucleus  nucleus  nucleoplasm  Cajal body  membrane  nuclear speck  
Pathways : KEGGSpliceosome   
NDEx NetworkDDX46
Atlas of Cancer Signalling NetworkDDX46
Wikipedia pathwaysDDX46
Orthology - Evolution
OrthoDB9879
GeneTree (enSembl)ENSG00000145833
Phylogenetic Trees/Animal Genes : TreeFamDDX46
HOGENOMQ7L014
Homologs : HomoloGeneDDX46
Homology/Alignments : Family Browser (UCSC)DDX46
Gene fusions - Rearrangements
Fusion : QuiverDDX46
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerDDX46 [hg38]
dbVarDDX46
ClinVarDDX46
MonarchDDX46
1000_GenomesDDX46 
Exome Variant ServerDDX46
GNOMAD BrowserENSG00000145833
Varsome BrowserDDX46
Genomic Variants (DGV)DDX46 [DGVbeta]
DECIPHERDDX46 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisDDX46 
Mutations
ICGC Data PortalDDX46 
TCGA Data PortalDDX46 
Broad Tumor PortalDDX46
OASIS PortalDDX46 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICDDX46  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DDDX46
Mutations and Diseases : HGMDDDX46
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch DDX46
DgiDB (Drug Gene Interaction Database)DDX46
DoCM (Curated mutations)DDX46 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)DDX46 (select a term)
intoGenDDX46
Cancer3DDDX46(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM617848   
Orphanet
DisGeNETDDX46
MedgenDDX46
Genetic Testing Registry DDX46
NextProtQ7L014 [Medical]
GENETestsDDX46
Target ValidationDDX46
Huge Navigator DDX46 [HugePedia]
ClinGenDDX46
Clinical trials, drugs, therapy
MyCancerGenomeDDX46
Protein Interactions : CTD
Pharm GKB GenePA134894452
PharosQ7L014
Clinical trialDDX46
Miscellaneous
canSAR (ICR)DDX46 (select the gene name)
HarmonizomeDDX46
DataMed IndexDDX46
Probes
Litterature
PubMed65 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXDDX46
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri Jan 1 18:12:37 CET 2021
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