|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:Fanconi_anemia
gptkb:FANCA
gptkb:FANCB
gptkb:FANCC
gptkb:FANCD2
gptkb:FANCE
gptkb:FANCG
gptkb:FANCL
gptkb:FANCM
|
|
gptkbp:clinicalTrialPhase
|
yes
|
|
gptkbp:discoveredIn
|
2000
|
|
gptkbp:encodes
|
gptkb:FANCF_protein
|
|
gptkbp:Entrez_Gene_ID
|
2188
|
|
gptkbp:expressedIn
|
various tissues
|
|
gptkbp:fullName
|
gptkb:Fanconi_anemia_complementation_group_F
|
|
gptkbp:function
|
DNA repair
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:HGNC_ID
|
HGNC:3582
|
|
gptkbp:interactsWith
|
gptkb:FANCG_protein
gptkb:BRCA1_protein
gptkb:FANCA_protein
gptkb:FANCC_protein
gptkb:FANCD2_protein
gptkb:FANCE_protein
gptkb:FANCL_protein
gptkb:FANCM_protein
gptkb:BRCA2_protein
gptkb:RAD51_protein
|
|
gptkbp:involves
|
Fanconi anemia pathway
|
|
gptkbp:length
|
~3.5 kb
|
|
gptkbp:locatedOnChromosome
|
chromosome 11
11p14.3
|
|
gptkbp:modelOrganismFor
|
gptkb:mouse
gptkb:zebrafish
gptkb:yeast
|
|
gptkbp:mutationAssociatedWith
|
nonsense
missense
increased cancer risk
genomic instability
frameshift
splice site
|
|
gptkbp:numberOfExons
|
8
|
|
gptkbp:OMIM
|
603467
|
|
gptkbp:orthologInMouse
|
Fancf
|
|
gptkbp:proteinFamily
|
Fanconi anemia complementation group proteins
|
|
gptkbp:referenceGenome
|
gptkb:GRCh38
|
|
gptkbp:UniProtID
|
Q9NPI8
|
|
gptkbp:bfsParent
|
gptkb:Fanconi_anemia_complementation_group_F
gptkb:Fanconi_anemia_complementation_group_F_protein
|
|
gptkbp:bfsLayer
|
8
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
FANCF gene
|