|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alternativeName
|
gptkb:MGC23981
gptkb:MGC23981_protein
gptkb:MGC52271
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
amyotrophic lateral sclerosis
neurodegeneration
frontotemporal dementia
ALS-FTD spectrum disorder
frontotemporal lobar degeneration
repeat expansion disorders
|
|
gptkbp:clinicalTrialPhase
|
yes
|
|
gptkbp:discoveredBy
|
gptkb:Adrian_Isaacs
gptkb:Bryan_Traynor
|
|
gptkbp:discoveredIn
|
2011
|
|
gptkbp:Entrez_Gene_ID
|
203228
ENSG00000147894
|
|
gptkbp:expressedIn
|
gptkb:spinal_cord
brain
|
|
gptkbp:fullName
|
gptkb:chromosome_9_open_reading_frame_72
|
|
gptkbp:function
|
autophagy regulation
regulation of endosomal trafficking
|
|
gptkbp:gene
|
gptkb:C9orf72
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:HGNC_ID
|
HGNC:28245
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
C9orf72 gene
|
|
gptkbp:inheritance
|
autosomal dominant
|
|
gptkbp:length
|
~23 kb
|
|
gptkbp:locatedOnChromosome
|
gptkb:9p21.2
gptkb:chromosome_9
|
|
gptkbp:modelOrganismFor
|
gptkb:mouse
gptkb:zebrafish
gptkb:Drosophila_melanogaster
|
|
gptkbp:mutationAssociatedWith
|
hexanucleotide repeat expansion
dipeptide repeat proteins
toxic RNA foci
|
|
gptkbp:normalRepeatRange
|
2-23 repeats
|
|
gptkbp:numberOfExons
|
11
|
|
gptkbp:OMIM
|
614260
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologInMouse
|
gptkb:C9orf72
|
|
gptkbp:pathogenicRepeatRange
|
>30 repeats
|
|
gptkbp:pathway
|
autophagy pathway
endosomal trafficking pathway
|
|
gptkbp:product
|
gptkb:C9orf72_protein
|
|
gptkbp:RefSeq
|
NM_145005
|
|
gptkbp:repeatSequence
|
GGGGCC
|
|
gptkbp:UniProtID
|
Q96LT7
|
|
gptkbp:bfsParent
|
gptkb:C9orf72_protein
|
|
gptkbp:bfsLayer
|
6
|