Statements (28)
Predicate | Object |
---|---|
gptkbp:instanceOf |
gptkb:gene
|
gptkbp:alias |
gptkb:TDP-43
gptkb:TDP43 |
gptkbp:associatedWith |
amyotrophic lateral sclerosis
frontotemporal dementia |
gptkbp:cytogenetic_location |
gptkb:1p36.22
|
gptkbp:discoveredIn |
1995
|
gptkbp:encodes |
gptkb:TAR_DNA-binding_protein_43
|
gptkbp:Entrez_Gene_ID |
gptkb:ENSG00000120948
23435 |
gptkbp:expressedIn |
gptkb:spinal_cord
brain |
gptkbp:function |
RNA-binding protein
regulation of transcription splicing regulation |
gptkbp:geneType |
protein-coding
|
gptkbp:HGNC_ID |
HGNC:11574
|
https://www.w3.org/2000/01/rdf-schema#label |
TARDBP
|
gptkbp:locatedOnChromosome |
chromosome 1
|
gptkbp:mutationAssociatedWith |
gptkb:ALS10
|
gptkbp:OMIM |
605078
|
gptkbp:organism |
gptkb:Homo_sapiens
|
gptkbp:orthologIn |
gptkb:Danio_rerio
gptkb:Mus_musculus gptkb:Drosophila_melanogaster |
gptkbp:UniProtID |
gptkb:Q13148
|
gptkbp:bfsParent |
gptkb:Amyotrophic_lateral_sclerosis
|
gptkbp:bfsLayer |
4
|