Statements (27)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alias |
FSHD region gene 1 homolog
FSHD region gene 1 protein |
| gptkbp:alternativeSplicing |
yes
|
| gptkbp:associatedWith |
gptkb:facioscapulohumeral_muscular_dystrophy
|
| gptkbp:encodes |
FRG1 protein
|
| gptkbp:Entrez_Gene_ID |
2483
ENSG00000109536 |
| gptkbp:expressedIn |
gptkb:skeletal_muscle
brain heart |
| gptkbp:fullName |
FSHD region gene 1
|
| gptkbp:function |
muscle development
RNA processing |
| gptkbp:HGNC_ID |
HGNC:3952
|
| https://www.w3.org/2000/01/rdf-schema#label |
FRG1
|
| gptkbp:length |
317 amino acids
|
| gptkbp:locatedOnChromosome |
4q35
|
| gptkbp:mutationAssociatedWith |
linked to FSHD pathology
|
| gptkbp:OMIM |
601278
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:orthologIn |
mouse FRG1
|
| gptkbp:subcellularLocation |
gptkb:nucleus
gptkb:cytoplasm |
| gptkbp:UniProtID |
Q14331
|
| gptkbp:bfsParent |
gptkb:chromosome_4q35
|
| gptkbp:bfsLayer |
8
|