DUX4 (double homeobox 4)

2015-02-01  

Identity

HGNC
LOCATION
4q35.2
LOCUSID
ALIAS
DUX4L
FUSION GENES

Other Information

Locus ID:

NCBI: 100288687
MIM: 606009
HGNC: 50800
Ensembl: ENSG00000260596

Variants:

dbSNP: 100288687
ClinVar: 100288687
TCGA: ENSG00000260596
COSMIC: DUX4

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000260596ENST00000565211Q9UBX2
ENSG00000260596ENST00000565211C3U3A0
ENSG00000260596ENST00000569241Q9UBX2
ENSG00000260596ENST00000569241C3U3A0
ENSG00000260596ENST00000570263Q9UBX2
ENSG00000260596ENST00000616166Q9UBX2
ENSG00000260596ENST00000616166C3U3A0

Expression (GTEx)

0
1

References

Pubmed IDYearTitleCitations
272658952016Identification of ETV6-RUNX1-like and DUX4-rearranged subtypes in paediatric B-cell precursor acute lymphoblastic leukaemia.63
277761152016Deregulation of DUX4 and ERG in acute lymphoblastic leukemia.61
247234862014Distinct transcriptional signature and immunoprofile of CIC-DUX4 fusion-positive round cell tumors compared to EWSR1-rearranged Ewing sarcomas: further evidence toward distinct pathologic entities.36
263560062015Genetic and epigenetic contributors to FSHD.36
269513772016DUX4 recruits p300/CBP through its C-terminus and induces global H3K27 acetylation changes.36
282731362017DUX4-induced dsRNA and MYC mRNA stabilization activate apoptotic pathways in human cell models of facioscapulohumeral dystrophy.24
283463262017Sarcomas With CIC-rearrangements Are a Distinct Pathologic Entity With Aggressive Outcome: A Clinicopathologic and Molecular Study of 115 Cases.24
295331812018NuRD and CAF-1-mediated silencing of the D4Z4 array is modulated by DUX4-induced MBD3L proteins.15
287449362017Molecular combing reveals complex 4q35 rearrangements in Facioscapulohumeral dystrophy.11
270796942016CIC-DUX4 fusion-positive round-cell sarcomas of soft tissue and bone: a single-institution morphological and molecular analysis of seven cases.9

Citation

Dessen P

DUX4 (double homeobox 4)

Atlas Genet Cytogenet Oncol Haematol. 2015-02-01

Online version: http://atlasgeneticsoncology.org/gene/54984/dux4