Statements (24)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeSplicing |
yes
|
| gptkbp:associatedWith |
gptkb:facioscapulohumeral_muscular_dystrophy
|
| gptkbp:encodes |
DUX4 protein
|
| gptkbp:Entrez_Gene_ID |
gptkb:ENSG00000205336
221234 |
| gptkbp:expressedIn |
gptkb:testis
early embryo |
| gptkbp:fullName |
double homeobox 4
|
| gptkbp:function |
transcriptional activation
regulation of gene expression |
| gptkbp:HGNC_ID |
HGNC:30474
|
| https://www.w3.org/2000/01/rdf-schema#label |
DUX4 gene
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_4
|
| gptkbp:location |
4q35
|
| gptkbp:mutationAssociatedWith |
toxic gain of function
|
| gptkbp:numberOfExons |
3
|
| gptkbp:OMIM |
606009
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:orthologInMouse |
gptkb:Dux
|
| gptkbp:regulates |
yes
|
| gptkbp:UniProtID |
Q9UBX2
|
| gptkbp:bfsParent |
gptkb:facioscapulohumeral_muscular_dystrophy
|
| gptkbp:bfsLayer |
7
|