Statements (30)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeName |
gptkb:Translocated_in_Liposarcoma
TLS |
| gptkbp:associatedWith |
gptkb:Frontotemporal_Dementia
gptkb:Amyotrophic_Lateral_Sclerosis |
| gptkbp:discoveredBy |
Crozat et al.
|
| gptkbp:discoveredIn |
1993
|
| gptkbp:encodes |
gptkb:FUS_protein
|
| gptkbp:expressedIn |
gptkb:nucleus
gptkb:cytoplasm |
| gptkbp:fullName |
gptkb:Fused_in_Sarcoma
|
| gptkbp:function |
DNA repair
RNA binding Transcription regulation |
| gptkbp:HGNC_ID |
4011
|
| https://www.w3.org/2000/01/rdf-schema#label |
FUS
|
| gptkbp:length |
526 amino acids
|
| gptkbp:locatedOnChromosome |
gptkb:16p11.2
|
| gptkbp:molecularWeight |
53 kDa
|
| gptkbp:mutationAssociatedWith |
nonsense
missense frameshift |
| gptkbp:OMIM |
137070
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:orthologInMouse |
Fus
|
| gptkbp:orthologInZebrafish |
fus
|
| gptkbp:proteinFamily |
gptkb:FET_family
|
| gptkbp:UniProtID |
gptkb:P35637
|
| gptkbp:bfsParent |
gptkb:Amyotrophic_lateral_sclerosis
|
| gptkbp:bfsLayer |
4
|