|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alternativeName
|
gptkb:CHD-7
gptkb:KIAA1416
|
|
gptkbp:associatedWith
|
gptkb:CHARGE_syndrome
gptkb:autism_spectrum_disorder
intellectual disability
|
|
gptkbp:biologicalProcess
|
development
transcription regulation
ATP-dependent DNA helicase activity
neural crest cell development
nucleosome remodeling
|
|
gptkbp:chromosomeArm
|
q
|
|
gptkbp:discoveredBy
|
gptkb:Vissers_et_al.
|
|
gptkbp:discoveredIn
|
2004
|
|
gptkbp:encodes
|
gptkb:CHD7_protein
|
|
gptkbp:Entrez_Gene_ID
|
gptkb:ENSG00000171316
55636
|
|
gptkbp:expressedIn
|
various tissues
|
|
gptkbp:fullName
|
gptkb:chromodomain_helicase_DNA_binding_protein_7
|
|
gptkbp:function
|
regulation of gene expression
chromatin remodeling
|
|
gptkbp:geneLocationEnd
|
62,097,803
|
|
gptkbp:geneLocationStart
|
61,846,239
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:hasParalog
|
gptkb:CHD1
gptkb:CHD2
gptkb:CHD3
gptkb:CHD4
gptkb:CHD5
gptkb:CHD6
gptkb:CHD8
gptkb:CHD9
|
|
gptkbp:HGNC_ID
|
20401
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
CHD7
|
|
gptkbp:length
|
2997 amino acids
38 exons
|
|
gptkbp:locatedOnChromosome
|
8
q12.2
|
|
gptkbp:mutationAssociatedWith
|
gptkb:CHARGE_syndrome
nonsense
missense
frameshift
splice site
|
|
gptkbp:OMIM
|
608892
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologInMouse
|
gptkb:Chd7
|
|
gptkbp:proteinFamily
|
gptkb:CHD_family
gptkb:SANT_domain
helicase domain
BRK domain
chromodomain
|
|
gptkbp:referenceGenome
|
gptkb:GRCh38
|
|
gptkbp:relatedSyndrome
|
gptkb:Kallmann_syndrome
hypogonadotropic hypogonadism
|
|
gptkbp:UniProtID
|
gptkb:Q9P2D1
|
|
gptkbp:bfsParent
|
gptkb:Kallmann_syndrome
|
|
gptkbp:bfsLayer
|
6
|