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DUX4 (double homeobox 4)

Identity

Other aliasDUX4L
HGNC (Hugo) DUX4
LocusID (NCBI) 100288687
Atlas_Id 54984
Location 4q35.2  [Link to chromosome band 4q35]
Location_base_pair Starts at 190173774 and ends at 190175845 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
CIC 19q13.2 / DUX4 4q35.2

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

 

Breakpoints

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 3 ]
  Soft tissue tumors: an overview
Soft Tissues: Pediatric undifferentiated sarcoma with t(4;19)(q35;q13)
Soft Tissues: Embryonal rhabdomyosarcoma with t(4;22)(q35;q12) EWSR1/DUX4


External links

Nomenclature
HGNC (Hugo)DUX4   50800
Cards
Entrez_Gene (NCBI)DUX4  100288687  double homeobox 4
AliasesDUX4L
GeneCards (Weizmann)DUX4
Ensembl hg19 (Hinxton)ENSG00000260596 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000260596 [Gene_View]  chr4:190173774-190175845 [Contig_View]  DUX4 [Vega]
ICGC DataPortalENSG00000260596
TCGA cBioPortalDUX4
AceView (NCBI)DUX4
Genatlas (Paris)DUX4
WikiGenes100288687
SOURCE (Princeton)DUX4
Genetics Home Reference (NIH)DUX4
Genomic and cartography
GoldenPath hg38 (UCSC)DUX4  -     chr4:190173774-190175845 +  4q35.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)DUX4  -     4q35.2   [Description]    (hg19-Feb_2009)
EnsemblDUX4 - 4q35.2 [CytoView hg19]  DUX4 - 4q35.2 [CytoView hg38]
Mapping of homologs : NCBIDUX4 [Mapview hg19]  DUX4 [Mapview hg38]
OMIM606009   
Gene and transcription
Genbank (Entrez)BC160122 HQ266760 HQ266761 HQ266762 HQ266764
RefSeq transcript (Entrez)NM_001205218 NM_001278056 NM_001293798 NM_001306068
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)DUX4
Cluster EST : UnigeneHs.728749 [ NCBI ]
CGAP (NCI)Hs.728749
Alternative Splicing GalleryENSG00000260596
Gene ExpressionDUX4 [ NCBI-GEO ]   DUX4 [ EBI - ARRAY_EXPRESS ]   DUX4 [ SEEK ]   DUX4 [ MEM ]
Gene Expression Viewer (FireBrowse)DUX4 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)100288687
GTEX Portal (Tissue expression)DUX4
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UBX2   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9UBX2  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9UBX2
Splice isoforms : SwissVarQ9UBX2
PhosPhoSitePlusQ9UBX2
Domaine pattern : Prosite (Expaxy)HOMEOBOX_2 (PS50071)   
Domains : Interpro (EBI)Homeobox-like    Homeobox_dom    HTH_motif   
Domain families : Pfam (Sanger)Homeobox (PF00046)   
Domain families : Pfam (NCBI)pfam00046   
Domain families : Smart (EMBL)HOX (SM00389)  
Conserved Domain (NCBI)DUX4
DMDM Disease mutations100288687
Blocks (Seattle)DUX4
SuperfamilyQ9UBX2
Human Protein AtlasENSG00000260596
Peptide AtlasQ9UBX2
Protein Interaction databases
DIP (DOE-UCLA)Q9UBX2
IntAct (EBI)Q9UBX2
FunCoupENSG00000260596
BioGRIDDUX4
STRING (EMBL)DUX4
ZODIACDUX4
Ontologies - Pathways
QuickGOQ9UBX2
Ontology : AmiGOtranscription regulatory region sequence-specific DNA binding  protein binding  nucleus  nucleoplasm  nucleolus  cytosol  transcription, DNA-templated  apoptotic process  negative regulation of cell proliferation  nuclear membrane  positive regulation of transcription from RNA polymerase II promoter  negative regulation of G0 to G1 transition  
Ontology : EGO-EBItranscription regulatory region sequence-specific DNA binding  protein binding  nucleus  nucleoplasm  nucleolus  cytosol  transcription, DNA-templated  apoptotic process  negative regulation of cell proliferation  nuclear membrane  positive regulation of transcription from RNA polymerase II promoter  negative regulation of G0 to G1 transition  
NDEx NetworkDUX4
Atlas of Cancer Signalling NetworkDUX4
Wikipedia pathwaysDUX4
Orthology - Evolution
OrthoDB100288687
GeneTree (enSembl)ENSG00000260596
Phylogenetic Trees/Animal Genes : TreeFamDUX4
HOVERGENQ9UBX2
HOGENOMQ9UBX2
Homologs : HomoloGeneDUX4
Homology/Alignments : Family Browser (UCSC)DUX4
Gene fusions - Rearrangements
Fusion : MitelmanCIC/DUX4 [19q13.2/-]  [t(4;19)(q35;q13)]  
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerDUX4 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)DUX4
dbVarDUX4
ClinVarDUX4
1000_GenomesDUX4 
Exome Variant ServerDUX4
ExAC (Exome Aggregation Consortium)DUX4 (select the gene name)
Genetic variants : HAPMAP100288687
Genomic Variants (DGV)DUX4 [DGVbeta]
DECIPHERDUX4 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisDUX4 
Mutations
ICGC Data PortalDUX4 
TCGA Data PortalDUX4 
Broad Tumor PortalDUX4
OASIS PortalDUX4 [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDDUX4
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)Leiden Muscular Dystrophy pages
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch DUX4
DgiDB (Drug Gene Interaction Database)DUX4
DoCM (Curated mutations)DUX4 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)DUX4 (select a term)
intoGenDUX4
Cancer3DDUX4(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM606009   
Orphanet
MedgenDUX4
Genetic Testing Registry DUX4
NextProtQ9UBX2 [Medical]
TSGene100288687
GENETestsDUX4
Target ValidationDUX4
Huge Navigator DUX4 [HugePedia]
snp3D : Map Gene to Disease100288687
BioCentury BCIQDUX4
ClinGenDUX4
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD100288687
Clinical trialDUX4
Miscellaneous
canSAR (ICR)DUX4 (select the gene name)
Probes
Litterature
PubMed29 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineDUX4
EVEXDUX4
GoPubMedDUX4
iHOPDUX4
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 25 19:06:14 CEST 2017

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