|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
gptkb:ABCC7
gptkb:ATP-binding_cassette_sub-family_C_member_7
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:elexacaftor
gptkb:ivacaftor
gptkb:lumacaftor
gptkb:tezacaftor
cystic fibrosis
congenital bilateral absence of the vas deferens
hereditary pancreatitis
|
|
gptkbp:biologicalProcess
|
chloride channel
|
|
gptkbp:clinicalTrialPhase
|
genetic testing for cystic fibrosis
|
|
gptkbp:discoveredBy
|
gptkb:Lap-Chee_Tsui
|
|
gptkbp:discoveredIn
|
1989
|
|
gptkbp:encodes
|
gptkb:CFTR_protein
|
|
gptkbp:Entrez_Gene_ID
|
gptkb:rs113993960
1080
ENSG00000001626
|
|
gptkbp:expressedIn
|
epithelial cells
|
|
gptkbp:fullName
|
gptkb:Cystic_fibrosis_transmembrane_conductance_regulator
|
|
gptkbp:gene
|
gptkb:CFTR
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:hasTranscriptVariant
|
multiple
|
|
gptkbp:HGNC_ID
|
1884
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
CFTR gene
|
|
gptkbp:length
|
1480 amino acids
189 kb
|
|
gptkbp:locatedOnChromosome
|
gptkb:chromosome_7
7q31.2
|
|
gptkbp:MIM_Number
|
602421
|
|
gptkbp:mostCommonMutation
|
gptkb:ΔF508
|
|
gptkbp:mutationAssociatedWith
|
nonsense
deletion
missense
|
|
gptkbp:numberOfExons
|
27
|
|
gptkbp:OMIM
|
602421
|
|
gptkbp:orthologInMouse
|
Cftr
|
|
gptkbp:orthologInZebrafish
|
cftr
|
|
gptkbp:pathway
|
cAMP signaling
fluid homeostasis
ion transport
|
|
gptkbp:proteinFamily
|
gptkb:ABC_transporter_family
|
|
gptkbp:referenceGenome
|
gptkb:GRCh38
|
|
gptkbp:regulates
|
salt and water transport
|
|
gptkbp:therapeuticArea
|
gptkb:CFTR_modulators
|
|
gptkbp:UniProtID
|
P13569
|
|
gptkbp:bfsParent
|
gptkb:Cystic_fibrosis
|
|
gptkbp:bfsLayer
|
5
|