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DDX39A (DEAD-box helicase 39A)

Identity

Alias_names49 kDa
DDX39
Alias_symbol (synonym)DDXL
BAT1L
URH49
Other aliasBAT1
HGNC (Hugo) DDX39A
LocusID (NCBI) 10212
Atlas_Id 52088
Location 19p13.12  [Link to chromosome band 19p13]
Location_base_pair Starts at 14519610 and ends at 14530195 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
DDX39A (19p13.12) / FAM160A2 (11p15.4)DNAJC15 (13q14.11) / DDX39A (19p13.12)

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)DDX39A   17821
Cards
Entrez_Gene (NCBI)DDX39A  10212  DEAD-box helicase 39A
AliasesBAT1; BAT1L; DDX39; DDXL; 
URH49
GeneCards (Weizmann)DDX39A
Ensembl hg19 (Hinxton)ENSG00000123136 [Gene_View]  chr19:14519610-14530195 [Contig_View]  DDX39A [Vega]
Ensembl hg38 (Hinxton)ENSG00000123136 [Gene_View]  chr19:14519610-14530195 [Contig_View]  DDX39A [Vega]
ICGC DataPortalENSG00000123136
TCGA cBioPortalDDX39A
AceView (NCBI)DDX39A
Genatlas (Paris)DDX39A
WikiGenes10212
SOURCE (Princeton)DDX39A
Genetics Home Reference (NIH)DDX39A
Genomic and cartography
GoldenPath hg19 (UCSC)DDX39A  -     chr19:14519610-14530195 -  19p13.12   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)DDX39A  -     19p13.12   [Description]    (hg38-Dec_2013)
EnsemblDDX39A - 19p13.12 [CytoView hg19]  DDX39A - 19p13.12 [CytoView hg38]
Mapping of homologs : NCBIDDX39A [Mapview hg19]  DDX39A [Mapview hg38]
Gene and transcription
Genbank (Entrez)AB254849 AK293911 AK301847 AL512698 BC001009
RefSeq transcript (Entrez)NM_001204057 NM_005804 NM_138998
RefSeq genomic (Entrez)NC_000019 NC_018930 NG_029055 NT_011295 NW_004929414
Consensus coding sequences : CCDS (NCBI)DDX39A
Cluster EST : UnigeneHs.311609 [ NCBI ]
CGAP (NCI)Hs.311609
Alternative Splicing GalleryENSG00000123136
Gene ExpressionDDX39A [ NCBI-GEO ]   DDX39A [ EBI - ARRAY_EXPRESS ]   DDX39A [ SEEK ]   DDX39A [ MEM ]
Gene Expression Viewer (FireBrowse)DDX39A [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10212
GTEX Portal (Tissue expression)DDX39A
Protein : pattern, domain, 3D structure
UniProt/SwissProtO00148   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO00148  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO00148
Splice isoforms : SwissVarO00148
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 ]   
PhosPhoSitePlusO00148
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)DDX39A
DMDM Disease mutations10212
Blocks (Seattle)DDX39A
SuperfamilyO00148
Human Protein AtlasENSG00000123136
Peptide AtlasO00148
HPRD10861
IPIIPI00940237   IPI00062206   IPI00910317   IPI00644431   IPI00166874   
Protein Interaction databases
DIP (DOE-UCLA)O00148
IntAct (EBI)O00148
FunCoupENSG00000123136
BioGRIDDDX39A
STRING (EMBL)DDX39A
ZODIACDDX39A
Ontologies - Pathways
QuickGOO00148
Ontology : AmiGOmRNA splicing, via spliceosome  ATP-dependent RNA helicase activity  protein binding  ATP binding  nucleus  nucleoplasm  spliceosomal complex  cytoplasm  termination of RNA polymerase II transcription  RNA export from nucleus  mRNA export from nucleus  cellular response to DNA damage stimulus  regulation of gene expression  RNA secondary structure unwinding  membrane  ATPase activity  mRNA 3'-end processing  poly(A) RNA binding  
Ontology : EGO-EBImRNA splicing, via spliceosome  ATP-dependent RNA helicase activity  protein binding  ATP binding  nucleus  nucleoplasm  spliceosomal complex  cytoplasm  termination of RNA polymerase II transcription  RNA export from nucleus  mRNA export from nucleus  cellular response to DNA damage stimulus  regulation of gene expression  RNA secondary structure unwinding  membrane  ATPase activity  mRNA 3'-end processing  poly(A) RNA binding  
NDEx NetworkDDX39A
Atlas of Cancer Signalling NetworkDDX39A
Wikipedia pathwaysDDX39A
Orthology - Evolution
OrthoDB10212
GeneTree (enSembl)ENSG00000123136
Phylogenetic Trees/Animal Genes : TreeFamDDX39A
HOVERGENO00148
HOGENOMO00148
Homologs : HomoloGeneDDX39A
Homology/Alignments : Family Browser (UCSC)DDX39A
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerDDX39A [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)DDX39A
dbVarDDX39A
ClinVarDDX39A
1000_GenomesDDX39A 
Exome Variant ServerDDX39A
ExAC (Exome Aggregation Consortium)DDX39A (select the gene name)
Genetic variants : HAPMAP10212
Genomic Variants (DGV)DDX39A [DGVbeta]
DECIPHER (Syndromes)19:14519610-14530195  ENSG00000123136
CONAN: Copy Number AnalysisDDX39A 
Mutations
ICGC Data PortalDDX39A 
TCGA Data PortalDDX39A 
Broad Tumor PortalDDX39A
OASIS PortalDDX39A [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICDDX39A  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDDDX39A
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 DDX39A
DgiDB (Drug Gene Interaction Database)DDX39A
DoCM (Curated mutations)DDX39A (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)DDX39A (select a term)
intoGenDDX39A
Cancer3DDDX39A(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
MedgenDDX39A
Genetic Testing Registry DDX39A
NextProtO00148 [Medical]
TSGene10212
GENETestsDDX39A
Huge Navigator DDX39A [HugePedia]
snp3D : Map Gene to Disease10212
BioCentury BCIQDDX39A
ClinGenDDX39A
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD10212
Chemical/Pharm GKB GenePA27226
Clinical trialDDX39A
Miscellaneous
canSAR (ICR)DDX39A (select the gene name)
Probes
Litterature
PubMed52 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineDDX39A
EVEXDDX39A
GoPubMedDDX39A
iHOPDDX39A
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Thu Mar 30 14:58:37 CEST 2017

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