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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 113594978 and ends at 113623284 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
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

 


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]  chr12:113594978-113623284 [Contig_View]  DDX54 [Vega]
Ensembl hg38 (Hinxton)ENSG00000123064 [Gene_View]  chr12:113594978-113623284 [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 hg19 (UCSC)DDX54  -     chr12:113594978-113623284 -  12q24.13   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)DDX54  -     12q24.13   [Description]    (hg38-Dec_2013)
EnsemblDDX54 - 12q24.13 [CytoView hg19]  DDX54 - 12q24.13 [CytoView hg38]
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)NC_000012 NC_018923 NT_029419 NW_004929385
Consensus coding sequences : CCDS (NCBI)DDX54
Cluster EST : UnigeneHs.506861 [ NCBI ]
CGAP (NCI)Hs.506861
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]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)79039
GTEX Portal (Tissue expression)DDX54
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 ]   
PhosPhoSitePlusQ8TDD1
Domaine pattern : Prosite (Expaxy)DEAD_ATP_HELICASE (PS00039)    HELICASE_ATP_BIND_1 (PS51192)    HELICASE_CTER (PS51194)    Q_MOTIF (PS51195)   
Domains : Interpro (EBI)DBP10CT    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)DEXDc (SM00487)  HELICc (SM00490)  
Domain structure : Prodom (Prabi Lyon)DBP10CT (PD024971)   
Conserved Domain (NCBI)DDX54
DMDM Disease mutations79039
Blocks (Seattle)DDX54
SuperfamilyQ8TDD1
Human Protein AtlasENSG00000123064
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  ATP-dependent RNA helicase activity  receptor binding  ATP binding  nucleus  nucleolus  transcription, DNA-templated  regulation of transcription, DNA-templated  RNA processing  RNA secondary structure unwinding  membrane  RNA metabolic process  estrogen receptor binding  intracellular estrogen receptor signaling pathway  poly(A) RNA binding  negative regulation of nucleic acid-templated transcription  
Ontology : EGO-EBItranscription corepressor activity  ATP-dependent RNA helicase activity  receptor binding  ATP binding  nucleus  nucleolus  transcription, DNA-templated  regulation of transcription, DNA-templated  RNA processing  RNA secondary structure unwinding  membrane  RNA metabolic process  estrogen receptor binding  intracellular estrogen receptor signaling pathway  poly(A) RNA binding  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
HOVERGENQ8TDD1
HOGENOMQ8TDD1
Homologs : HomoloGeneDDX54
Homology/Alignments : Family Browser (UCSC)DDX54
Gene fusions - Rearrangements
Fusion : MitelmanDDX54/IQCD [12q24.13/12q24.13]  
Fusion: TCGADDX54 12q24.13 IQCD 12q24.13 BRCA
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)DDX54 (select the gene name)
Genetic variants : HAPMAP79039
Genomic Variants (DGV)DDX54 [DGVbeta]
DECIPHER (Syndromes)12:113594978-113623284  ENSG00000123064
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]  
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] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM611665   
Orphanet
MedgenDDX54
Genetic Testing Registry DDX54
NextProtQ8TDD1 [Medical]
TSGene79039
GENETestsDDX54
Huge Navigator DDX54 [HugePedia]
snp3D : Map Gene to Disease79039
BioCentury BCIQDDX54
ClinGenDDX54
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD79039
Chemical/Pharm GKB GenePA134992026
Clinical trialDDX54
Miscellaneous
canSAR (ICR)DDX54 (select the gene name)
Probes
Litterature
PubMed32 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 Mar 14 13:03:00 CET 2017

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