|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
amyotrophic lateral sclerosis
frontotemporal dementia
|
|
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:HGNC_ID
|
HGNC:28245
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
C9orf72
|
|
gptkbp:length
|
11 exons
|
|
gptkbp:locatedOnChromosome
|
gptkb:9p21.2
gptkb:chromosome_9
|
|
gptkbp:mutationAssociatedWith
|
hexanucleotide repeat expansion
loss of function
toxic gain of function
|
|
gptkbp:mutationInheritance
|
autosomal dominant
|
|
gptkbp:OMIM
|
614260
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologInMouse
|
gptkb:C9orf72_(mouse)
|
|
gptkbp:pathway
|
autophagy pathway
endosomal-lysosomal pathway
|
|
gptkbp:product
|
gptkb:C9orf72_protein
|
|
gptkbp:RefSeq
|
NM_145005
|
|
gptkbp:repeatExpansionMotif
|
GGGGCC
|
|
gptkbp:UniProtID
|
Q96LT7
|
|
gptkbp:bfsParent
|
gptkb:Amyotrophic_lateral_sclerosis
|
|
gptkbp:bfsLayer
|
4
|