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DDX23 (DEAD-box helicase 23)

Identity

Alias_namesPRP28 homolog, yeast
DEAD (Asp-Glu-Ala-Asp) box polypeptide 23
Alias_symbol (synonym)prp28
U5-100K
PRPF28
SNRNP100
Other aliasU5-100KD
HGNC (Hugo) DDX23
LocusID (NCBI) 9416
Atlas_Id 47349
Location 12q13.12  [Link to chromosome band 12q13]
Location_base_pair Starts at 48829756 and ends at 48852174 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
DCTN2 (12q13.3) / DDX23 (12q13.12)DDX23 (12q13.12) / ARF3 (12q13.12)PLEKHA6 (1q32.1) / DDX23 (12q13.12)
DCTN2 12q13.3 / DDX23 12q13.12DDX23 12q13.12 / ARF3 12q13.12

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)DDX23   17347
Cards
Entrez_Gene (NCBI)DDX23  9416  DEAD-box helicase 23
AliasesPRPF28; SNRNP100; U5-100K; U5-100KD; 
prp28
GeneCards (Weizmann)DDX23
Ensembl hg19 (Hinxton)ENSG00000174243 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000174243 [Gene_View]  chr12:48829756-48852174 [Contig_View]  DDX23 [Vega]
ICGC DataPortalENSG00000174243
TCGA cBioPortalDDX23
AceView (NCBI)DDX23
Genatlas (Paris)DDX23
WikiGenes9416
SOURCE (Princeton)DDX23
Genetics Home Reference (NIH)DDX23
Genomic and cartography
GoldenPath hg38 (UCSC)DDX23  -     chr12:48829756-48852174 -  12q13.12   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)DDX23  -     12q13.12   [Description]    (hg19-Feb_2009)
EnsemblDDX23 - 12q13.12 [CytoView hg19]  DDX23 - 12q13.12 [CytoView hg38]
Mapping of homologs : NCBIDDX23 [Mapview hg19]  DDX23 [Mapview hg38]
OMIM612172   
Gene and transcription
Genbank (Entrez)AF026402 AK128428 AK292921 AK294877 AK312379
RefSeq transcript (Entrez)NM_004818
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)DDX23
Cluster EST : UnigeneHs.130098 [ NCBI ]
CGAP (NCI)Hs.130098
Alternative Splicing GalleryENSG00000174243
Gene ExpressionDDX23 [ NCBI-GEO ]   DDX23 [ EBI - ARRAY_EXPRESS ]   DDX23 [ SEEK ]   DDX23 [ MEM ]
Gene Expression Viewer (FireBrowse)DDX23 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9416
GTEX Portal (Tissue expression)DDX23
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9BUQ8   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9BUQ8  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9BUQ8
Splice isoforms : SwissVarQ9BUQ8
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 ]   
PhosPhoSitePlusQ9BUQ8
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)DDX23
DMDM Disease mutations9416
Blocks (Seattle)DDX23
PDB (SRS)3JCR    4NHO   
PDB (PDBSum)3JCR    4NHO   
PDB (IMB)3JCR    4NHO   
PDB (RSDB)3JCR    4NHO   
Structural Biology KnowledgeBase3JCR    4NHO   
SCOP (Structural Classification of Proteins)3JCR    4NHO   
CATH (Classification of proteins structures)3JCR    4NHO   
SuperfamilyQ9BUQ8
Human Protein AtlasENSG00000174243
Peptide AtlasQ9BUQ8
HPRD09908
IPIIPI00006725   IPI00903057   IPI01021148   IPI01020725   IPI01021504   IPI01020999   IPI01021791   
Protein Interaction databases
DIP (DOE-UCLA)Q9BUQ8
IntAct (EBI)Q9BUQ8
FunCoupENSG00000174243
BioGRIDDDX23
STRING (EMBL)DDX23
ZODIACDDX23
Ontologies - Pathways
QuickGOQ9BUQ8
Ontology : AmiGOcis assembly of pre-catalytic spliceosome  RNA splicing, via transesterification reactions  mRNA splicing, via spliceosome  mRNA splicing, via spliceosome  RNA binding  ATP-dependent RNA helicase activity  protein binding  ATP binding  nucleus  nucleoplasm  U5 snRNP  nucleolus  ATP-dependent helicase activity  RNA splicing  RNA secondary structure unwinding  extracellular exosome  catalytic step 2 spliceosome  
Ontology : EGO-EBIcis assembly of pre-catalytic spliceosome  RNA splicing, via transesterification reactions  mRNA splicing, via spliceosome  mRNA splicing, via spliceosome  RNA binding  ATP-dependent RNA helicase activity  protein binding  ATP binding  nucleus  nucleoplasm  U5 snRNP  nucleolus  ATP-dependent helicase activity  RNA splicing  RNA secondary structure unwinding  extracellular exosome  catalytic step 2 spliceosome  
Pathways : KEGGSpliceosome   
NDEx NetworkDDX23
Atlas of Cancer Signalling NetworkDDX23
Wikipedia pathwaysDDX23
Orthology - Evolution
OrthoDB9416
GeneTree (enSembl)ENSG00000174243
Phylogenetic Trees/Animal Genes : TreeFamDDX23
HOVERGENQ9BUQ8
HOGENOMQ9BUQ8
Homologs : HomoloGeneDDX23
Homology/Alignments : Family Browser (UCSC)DDX23
Gene fusions - Rearrangements
Fusion : MitelmanDCTN2/DDX23 [12q13.3/12q13.12]  [t(12;12)(q13;q13)]  
Fusion : MitelmanDDX23/ARF3 [12q13.12/12q13.12]  [t(12;12)(q13;q13)]  
Fusion: TCGADCTN2 12q13.3 DDX23 12q13.12 LUSC
Fusion: TCGADDX23 12q13.12 ARF3 12q13.12 LUAD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerDDX23 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)DDX23
dbVarDDX23
ClinVarDDX23
1000_GenomesDDX23 
Exome Variant ServerDDX23
ExAC (Exome Aggregation Consortium)DDX23 (select the gene name)
Genetic variants : HAPMAP9416
Genomic Variants (DGV)DDX23 [DGVbeta]
DECIPHERDDX23 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisDDX23 
Mutations
ICGC Data PortalDDX23 
TCGA Data PortalDDX23 
Broad Tumor PortalDDX23
OASIS PortalDDX23 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICDDX23  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDDDX23
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 DDX23
DgiDB (Drug Gene Interaction Database)DDX23
DoCM (Curated mutations)DDX23 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)DDX23 (select a term)
intoGenDDX23
Cancer3DDDX23(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM612172   
Orphanet
MedgenDDX23
Genetic Testing Registry DDX23
NextProtQ9BUQ8 [Medical]
TSGene9416
GENETestsDDX23
Huge Navigator DDX23 [HugePedia]
snp3D : Map Gene to Disease9416
BioCentury BCIQDDX23
ClinGenDDX23
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9416
Chemical/Pharm GKB GenePA134934941
Clinical trialDDX23
Miscellaneous
canSAR (ICR)DDX23 (select the gene name)
Probes
Litterature
PubMed47 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineDDX23
EVEXDDX23
GoPubMedDDX23
iHOPDDX23
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri May 19 12:12:57 CEST 2017

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