|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
CHD8_HUMAN
KIAA1564
|
|
gptkbp:associatedWith
|
gptkb:autism_spectrum_disorder
intellectual disability
sleep disturbances
gastrointestinal problems
macrocephaly
|
|
gptkbp:component
|
nuclear chromatin
|
|
gptkbp:discoveredIn
|
2002
|
|
gptkbp:encodes
|
CHD8 protein
|
|
gptkbp:Entrez_Gene_ID
|
57680
|
|
gptkbp:expressedIn
|
brain
|
|
gptkbp:fullName
|
chromodomain helicase DNA binding protein 8
|
|
gptkbp:function
|
transcription regulation
chromatin remodeling
ATP-dependent chromatin remodeler activity
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:GOProcess
|
regulation of transcription, DNA-templated
|
|
gptkbp:hasTranscriptVariant
|
multiple
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
CHD8
|
|
gptkbp:interactsWith
|
gptkb:p53
gptkb:beta-catenin
gptkb:CTCF
|
|
gptkbp:length
|
2581 amino acids
|
|
gptkbp:locatedOn
|
gptkb:chromosome_14
|
|
gptkbp:molecularWeight
|
290 kDa
|
|
gptkbp:mouseModelPhenotype
|
macrocephaly
increased brain size
impaired social interaction
craniofacial anomalies
autism-like behaviors
gastrointestinal defects
sleep abnormalities
|
|
gptkbp:mutationAssociatedWith
|
neurological disorder
loss-of-function
de novo mutation
|
|
gptkbp:OMIM
|
610528
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologIn
|
gptkb:Danio_rerio
gptkb:Mus_musculus
|
|
gptkbp:pathway
|
gptkb:Wnt_signaling
cell cycle regulation
|
|
gptkbp:proteinFamily
|
gptkb:CHD_family
|
|
gptkbp:regulates
|
gptkb:Wnt_signaling_pathway
cell cycle
|
|
gptkbp:subcellularLocation
|
gptkb:nucleus
|
|
gptkbp:UniProtID
|
Q9HCK8
|
|
gptkbp:bfsParent
|
gptkb:CHD7
|
|
gptkbp:bfsLayer
|
7
|