DUX4


Summary: This gene is located within a D4Z4 repeat array in the subtelomeric region of chromosome 4q. The D4Z4 repeat is polymorphic in length; a similar D4Z4 repeat array has been identified on chromosome 10. Each D4Z4 repeat unit has an open reading frame (named DUX4) that encodes two homeoboxes; the repeat-array and ORF is conserved in other mammals. The encoded protein has been reported to function as a transcriptional activator of paired-like homeodomain transcription factor 1 (PITX1; GeneID 5307). Contraction of the macrosatellite repeat causes autosomal dominant facioscapulohumeral muscular dystrophy (FSHD). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015].

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Name
OMIM ID
Ensembl ID
HGNC ID
PHARMGKB ID
Map Location
OMIM IDMIM:606009
PHARMGKB ID
Map Location4q35.2

Gene Categories:

TUMOR SUPPRESSOR

GO terms in DUX4


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Term Type
Evidence Type
GO Term ID
GO Des.
CC IDA GO:0005634 nucleus
CC IDA GO:0005654 nucleoplasm
CC IDA GO:0005730 nucleolus
CC IDA GO:0005794 Golgi apparatus
CC IDA GO:0005829 cytosol
CC IDA GO:0031965 nuclear membrane
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Gene expression in normal tissue: DUX4

16 tissues mixtureadiposeadrenalbrainbreastcolonheartkidneyliverlunglymph nodeovaryprostateskeletal muscletestesthyroidwhite blood cells

Gene-model tissue-cancer distribution: Bubble Plot

undefinetissue: undefine cancer: undefined model num: 0undefinedtissue: undefined cancer: PANCAN model num: 1

Gene-drug pathway distribution

ABL signaling1

Pathways in DUX4


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Database
Pathway ID
Pathway Des.
No matching records found

Gene-Drug: Aster Plot


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Drug ID
Drug Name
Model Num.
iGMDRD190 Nilotinib 1
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Gene in drug-gene network: Network Plot

SMARCB1SMARCB1RPS18P13RPS18P13OR4F14POR4F14PUGT1A1UGT1A1RNA5SP365RNA5SP365BRMS1LBRMS1LKITKITNRASNRASABL1ABL1KDM6AKDM6ASNORA27SNORA27NF1NF1ZNF81ZNF81RNU4-72PRNU4-72PNilotinibNilotinibDUX4DUX4

Gene-drug targets distribution

Gene Structure: PDB

Models in DUX4

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Model
Level
Reference ID
Tissue
Cancer
Drug
Clinical Response
Source
No matching records found

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