|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
gptkb:FA3
gptkb:FACC
gptkb:FAC
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:Fanconi_anemia
bone marrow failure
cancer susceptibility
congenital abnormalities
|
|
gptkbp:clinicalTrialPhase
|
available
|
|
gptkbp:discoveredIn
|
1992
|
|
gptkbp:encodes
|
gptkb:Fanconi_anemia_group_C_protein
|
|
gptkbp:Entrez_Gene_ID
|
2175
ENSG00000158169
|
|
gptkbp:expressedIn
|
gptkb:testis
liver
spleen
bone marrow
|
|
gptkbp:fullName
|
gptkb:Fanconi_anemia_complementation_group_C
|
|
gptkbp:function
|
DNA repair
protein-protein interaction
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:HGNC_ID
|
HGNC:3584
|
|
gptkbp:interactsWith
|
gptkb:FANCA
gptkb:FANCB
gptkb:FANCD2
gptkb:FANCE
gptkb:FANCF
gptkb:FANCG
gptkb:FANCL
gptkb:FANCM
|
|
gptkbp:involvedIn
|
Fanconi anemia pathway
|
|
gptkbp:length
|
558 amino acids
|
|
gptkbp:locatedOnChromosome
|
plus
9q22.3
|
|
gptkbp:molecularWeight
|
63 kDa
|
|
gptkbp:mutationAssociatedWith
|
gptkb:Fanconi_anemia,_complementation_group_C
nonsense
missense
frameshift
splice site
|
|
gptkbp:OMIM
|
600051
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologIn
|
gptkb:Danio_rerio
gptkb:Mus_musculus
|
|
gptkbp:pathway
|
DNA interstrand cross-link repair
|
|
gptkbp:RefSeq
|
NM_000136
|
|
gptkbp:symbol
|
gptkb:FANCC
|
|
gptkbp:UniProtID
|
Q00597
|
|
gptkbp:bfsParent
|
gptkb:Fanconi_anemia
|
|
gptkbp:bfsLayer
|
6
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
FANCC
|