|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
gptkb:AGS
gptkb:CD339
JAGGED
SCDO2
hJ1
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:DLL1
gptkb:Tetralogy_of_Fallot
gptkb:NOTCH1
gptkb:Alagille_syndrome
gptkb:DLL4
gptkb:NOTCH2
biliary atresia
|
|
gptkbp:biologicalProcess
|
Notch receptor ligand
|
|
gptkbp:discoveredBy
|
Li et al.
|
|
gptkbp:discoveredIn
|
1997
|
|
gptkbp:encodes
|
Jagged1 protein
|
|
gptkbp:Entrez_Gene_ID
|
182
ENSG00000101384
|
|
gptkbp:expressedIn
|
gptkb:kidney
heart
liver
|
|
gptkbp:fullName
|
gptkb:Jagged1
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:HGNC_ID
|
HGNC:6188
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
JAG1 gene
|
|
gptkbp:involves
|
gptkb:Notch_signaling_pathway
|
|
gptkbp:length
|
26 exons
|
|
gptkbp:locatedOnChromosome
|
chromosome 20
20p12.2
|
|
gptkbp:mutationAssociatedWith
|
missense mutation
nonsense mutation
frameshift mutation
|
|
gptkbp:OMIM
|
601920
|
|
gptkbp:orthologInMouse
|
Jag1
|
|
gptkbp:orthologInZebrafish
|
jag1a
jag1b
|
|
gptkbp:product
|
gptkb:Jagged1
|
|
gptkbp:proteinFamily
|
transmembrane domain
EGF-like repeats
DSL domain
|
|
gptkbp:RefSeq
|
NM_000214
NP_000205
|
|
gptkbp:symbol
|
gptkb:JAG1
|
|
gptkbp:UniProtID
|
gptkb:P78504
|
|
gptkbp:bfsParent
|
gptkb:CD339
gptkb:Alagille_syndrome
gptkb:Jagged_ligand
|
|
gptkbp:bfsLayer
|
8
|