|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
gptkb:NFNS
gptkb:neurofibromatosis_type_1_gene
gptkb:VRNF
gptkb:von_Recklinghausen_disease_gene
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:juvenile_myelomonocytic_leukemia
gptkb:Noonan_syndrome-like_disorder_with_NF1_mutations
gptkb:Watson_syndrome
gptkb:spinal_neurofibromatosis
gptkb:Neurofibromatosis_type_1
malignant peripheral nerve sheath tumor
|
|
gptkbp:biologicalProcess
|
gptkb:Ras_GTPase-activating_protein
|
|
gptkbp:clinicalTrialPhase
|
genetic testing available
|
|
gptkbp:discoveredIn
|
1990
|
|
gptkbp:encodes
|
gptkb:neurofibromin
|
|
gptkbp:Entrez_Gene_ID
|
4763
ENSG00000196712
|
|
gptkbp:expressedIn
|
gptkb:nervous_system
various tissues
|
|
gptkbp:firstDescribed
|
Francis S. Collins et al.
|
|
gptkbp:fullName
|
gptkb:Neurofibromin_1
|
|
gptkbp:function
|
tumor suppressor
|
|
gptkbp:geneSize
|
~350 kb
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:HGNC_ID
|
HGNC:7765
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
NF1 gene
|
|
gptkbp:inheritance
|
autosomal dominant
|
|
gptkbp:inheritanceRisk
|
50% for offspring of affected individual
|
|
gptkbp:length
|
2818 amino acids
|
|
gptkbp:locatedOnChromosome
|
gptkb:17q11.2
17
|
|
gptkbp:mouseModel
|
gptkb:Nf1_knockout_mouse
|
|
gptkbp:mutationAssociatedWith
|
nonsense
missense
frameshift
increased risk of tumors
splice site
high de novo mutation rate
large deletions
|
|
gptkbp:numberOfExons
|
60
|
|
gptkbp:OMIM
|
613113
|
|
gptkbp:orthologInMouse
|
Nf1
|
|
gptkbp:orthologInZebrafish
|
nf1a
nf1b
|
|
gptkbp:pathway
|
gptkb:MAPK_pathway
gptkb:Ras_signaling_pathway
cell growth regulation
|
|
gptkbp:product
|
gptkb:neurofibromin
|
|
gptkbp:RefSeq
|
NM_000267
|
|
gptkbp:UniProtID
|
P21359
|
|
gptkbp:bfsParent
|
gptkb:Neurofibromatosis_type_1
gptkb:RTK-RAS_pathway
|
|
gptkbp:bfsLayer
|
6
|