|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
gptkb:NF
gptkb:VRNF
gptkb:neurofibromatosis,_type_I
gptkb:von_Recklinghausen_disease_gene
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:neurofibromatosis_type_1
|
|
gptkbp:ClinVar_ID
|
1766
|
|
gptkbp:discoveredBy
|
gptkb:Francis_S._Collins
|
|
gptkbp:discoveredIn
|
1990
|
|
gptkbp:encodes
|
gptkb:neurofibromin
|
|
gptkbp:Entrez_Gene_ID
|
4763
ENSG00000196712
GC17M029463
|
|
gptkbp:expressedIn
|
gptkb:cancer
gptkb:skeletal_muscle
gptkb:nervous_system
gptkb:kidney
gptkb:placenta
gptkb:testis
heart
liver
spleen
pancreas
|
|
gptkbp:fullName
|
gptkb:Neurofibromin_1
|
|
gptkbp:function
|
tumor suppressor
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:hasPseudogene
|
yes
|
|
gptkbp:HGNC_ID
|
HGNC:7765
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
NF1
|
|
gptkbp:length
|
2818 amino acids
282,751 bp
|
|
gptkbp:locatedOnChromosome
|
gptkb:17q11.2
plus
|
|
gptkbp:mutationAssociatedWith
|
gptkb:juvenile_myelomonocytic_leukemia
gptkb:pheochromocytoma
gptkb:neurofibromatosis_type_1
nonsense
deletion
insertion
missense
frameshift
splice site
malignant peripheral nerve sheath tumors
optic glioma
|
|
gptkbp:numberOfExons
|
60
|
|
gptkbp:OMIM
|
613113
|
|
gptkbp:orthologInMouse
|
Nf1
|
|
gptkbp:orthologInZebrafish
|
nf1a
nf1b
|
|
gptkbp:proteinFamily
|
gptkb:GAP-related_domain
|
|
gptkbp:RefSeq
|
NM_000267
|
|
gptkbp:regulates
|
gptkb:Ras_signaling_pathway
|
|
gptkbp:UniProtID
|
P21359
|
|
gptkbp:bfsParent
|
gptkb:Neurofibromatosis_type_1
gptkb:chromosome_17
gptkb:RASH_HUMAN
gptkb:Transforming_protein_p21
gptkb:human_KRAS
gptkb:3265_(HRAS)
gptkb:KEGG:_hsa04014
|
|
gptkbp:bfsLayer
|
6
|