Atlas of Genetics and Cytogenetics in Oncology and Haematology

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DDX54 (DEAD-box helicase 54)

Identity

Alias_namesDEAD (Asp-Glu-Ala-Asp) box polypeptide 54
Alias_symbol (synonym)MGC2835
APR-5
DP97
Other alias
HGNC (Hugo) DDX54
LocusID (NCBI) 79039
Atlas_Id 46851
Location 12q24.13  [Link to chromosome band 12q24]
Location_base_pair Starts at 113157173 and ends at 113185478 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)
DDX54 (12q24.13) / CUX1 (7q22.1)DDX54 (12q24.13) / DDX54 (12q24.13)DDX54 (12q24.13) / IQCD (12q24.13)
DDX54 12q24.13 / IQCD 12q24.13

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

 

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  DDX54/IQCD (12q24)

External links

Nomenclature
HGNC (Hugo)DDX54   20084
Cards
Entrez_Gene (NCBI)DDX54  79039  DEAD-box helicase 54
AliasesDP97
GeneCards (Weizmann)DDX54
Ensembl hg19 (Hinxton)ENSG00000123064 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000123064 [Gene_View]  ENSG00000123064 [Sequence]  chr12:113157173-113185478 [Contig_View]  DDX54 [Vega]
ICGC DataPortalENSG00000123064
TCGA cBioPortalDDX54
AceView (NCBI)DDX54
Genatlas (Paris)DDX54
WikiGenes79039
SOURCE (Princeton)DDX54
Genetics Home Reference (NIH)DDX54
Genomic and cartography
GoldenPath hg38 (UCSC)DDX54  -     chr12:113157173-113185478 -  12q24.13   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)DDX54  -     12q24.13   [Description]    (hg19-Feb_2009)
GoldenPathDDX54 - 12q24.13 [CytoView hg19]  DDX54 - 12q24.13 [CytoView hg38]
ImmunoBaseENSG00000123064
Mapping of homologs : NCBIDDX54 [Mapview hg19]  DDX54 [Mapview hg38]
OMIM611665   
Gene and transcription
Genbank (Entrez)AF478457 AY148094 BC001132 BC001848 BC005848
RefSeq transcript (Entrez)NM_001111322 NM_024072
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)DDX54
Alternative Splicing GalleryENSG00000123064
Gene ExpressionDDX54 [ NCBI-GEO ]   DDX54 [ EBI - ARRAY_EXPRESS ]   DDX54 [ SEEK ]   DDX54 [ MEM ]
Gene Expression Viewer (FireBrowse)DDX54 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)79039
GTEX Portal (Tissue expression)DDX54
Human Protein AtlasENSG00000123064-DDX54 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8TDD1   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8TDD1  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8TDD1
Splice isoforms : SwissVarQ8TDD1
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 ]
PhosPhoSitePlusQ8TDD1
Domaine pattern : Prosite (Expaxy)DEAD_ATP_HELICASE (PS00039)    HELICASE_ATP_BIND_1 (PS51192)    HELICASE_CTER (PS51194)    Q_MOTIF (PS51195)   
Domains : Interpro (EBI)DBP10_C    DDX54/DBP10    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)DBP10CT (PF08147)    DEAD (PF00270)    Helicase_C (PF00271)   
Domain families : Pfam (NCBI)pfam08147    pfam00270    pfam00271   
Domain families : Smart (EMBL)DBP10CT (SM01123)  DEXDc (SM00487)  HELICc (SM00490)  
Conserved Domain (NCBI)DDX54
DMDM Disease mutations79039
Blocks (Seattle)DDX54
SuperfamilyQ8TDD1
Human Protein Atlas [tissue]ENSG00000123064-DDX54 [tissue]
Peptide AtlasQ8TDD1
HPRD13129
IPIIPI00879999   IPI00152510   IPI00001591   IPI01021253   IPI01022444   IPI01022245   
Protein Interaction databases
DIP (DOE-UCLA)Q8TDD1
IntAct (EBI)Q8TDD1
FunCoupENSG00000123064
BioGRIDDDX54
STRING (EMBL)DDX54
ZODIACDDX54
Ontologies - Pathways
QuickGOQ8TDD1
Ontology : AmiGOtranscription corepressor activity  RNA binding  RNA helicase activity  signaling receptor binding  ATP binding  nucleus  nucleoplasm  nucleolus  nucleolus  Golgi apparatus  rRNA processing  RNA processing  membrane  RNA metabolic process  estrogen receptor binding  intracellular estrogen receptor signaling pathway  negative regulation of nucleic acid-templated transcription  
Ontology : EGO-EBItranscription corepressor activity  RNA binding  RNA helicase activity  signaling receptor binding  ATP binding  nucleus  nucleoplasm  nucleolus  nucleolus  Golgi apparatus  rRNA processing  RNA processing  membrane  RNA metabolic process  estrogen receptor binding  intracellular estrogen receptor signaling pathway  negative regulation of nucleic acid-templated transcription  
NDEx NetworkDDX54
Atlas of Cancer Signalling NetworkDDX54
Wikipedia pathwaysDDX54
Orthology - Evolution
OrthoDB79039
GeneTree (enSembl)ENSG00000123064
Phylogenetic Trees/Animal Genes : TreeFamDDX54
HOGENOMQ8TDD1
Homologs : HomoloGeneDDX54
Homology/Alignments : Family Browser (UCSC)DDX54
Gene fusions - Rearrangements
Fusion : MitelmanDDX54/IQCD [12q24.13/12q24.13]  
Fusion PortalDDX54 12q24.13 IQCD 12q24.13 BRCA
Fusion : QuiverDDX54
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerDDX54 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)DDX54
dbVarDDX54
ClinVarDDX54
1000_GenomesDDX54 
Exome Variant ServerDDX54
ExAC (Exome Aggregation Consortium)ENSG00000123064
GNOMAD BrowserENSG00000123064
Varsome BrowserDDX54
Genetic variants : HAPMAP79039
Genomic Variants (DGV)DDX54 [DGVbeta]
DECIPHERDDX54 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisDDX54 
Mutations
ICGC Data PortalDDX54 
TCGA Data PortalDDX54 
Broad Tumor PortalDDX54
OASIS PortalDDX54 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICDDX54  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DDDX54
Mutations and Diseases : HGMDDDX54
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch DDX54
DgiDB (Drug Gene Interaction Database)DDX54
DoCM (Curated mutations)DDX54 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)DDX54 (select a term)
intoGenDDX54
Cancer3DDDX54(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM611665   
Orphanet
DisGeNETDDX54
MedgenDDX54
Genetic Testing Registry DDX54
NextProtQ8TDD1 [Medical]
TSGene79039
GENETestsDDX54
Target ValidationDDX54
Huge Navigator DDX54 [HugePedia]
snp3D : Map Gene to Disease79039
BioCentury BCIQDDX54
ClinGenDDX54
Clinical trials, drugs, therapy
Protein Interactions : CTD79039
Pharm GKB GenePA134992026
Clinical trialDDX54
Miscellaneous
canSAR (ICR)DDX54 (select the gene name)
HarmonizomeDDX54
DataMed IndexDDX54
Probes
Litterature
PubMed65 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineDDX54
EVEXDDX54
GoPubMedDDX54
iHOPDDX54
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 : Tue Jun 30 20:14:04 CEST 2020
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