Hs01050573_cn

• Gene Symbol: CHD8
• Assay Reference Genome Location: Chr.14:21393521 on build GRCh38
• Cytoband: 14q11.2

Target Gene Details

• Entrez Gene ID: 57680
• Gene Name: chromodomain helicase DNA binding protein 8
• Gene Aliases: AUTS18, HELSNF1
• Location: Chr.14:21385194-21437298 on Build GRCh38
• Assay Gene Location: Within Exon 33

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CHD8	NM_001170629.1	31	6339	NP_001164100.1
	NM_020920.3	32	5584	NP_065971.2
	AB046784.3	31	5827	BAB13390.3
	AK056639.1	12	2206
	AK131077.1	17	3163	BAC85127.1
	BC073903.1			AAH73903.1
	BC098452.1	6	1255	AAH98452.1
	CR749315.1	32	5529	CAH18170.1

More Information

• Set Membership: Intragenic, Exonic, non-DGV Variation

Gene Ontology Categories:

Process(es)

negative regulation of transcription from RNA polymerase II promoter
in utero embryonic development
transcription, DNA-templated
brain development
covalent chromatin modification
negative regulation of Wnt signaling pathway
DNA duplex unwinding
ATP-dependent chromatin remodeling
negative regulation of transcription, DNA-templated
positive regulation of transcription, DNA-templated
positive regulation of transcription from RNA polymerase II promoter
positive regulation of transcription from RNA polymerase III promoter
digestive tract development
canonical Wnt signaling pathway
negative regulation of canonical Wnt signaling pathway
negative regulation of fibroblast apoptotic process

Function(s)

p53 binding
DNA binding
DNA helicase activity
chromatin binding
protein binding
ATP binding
beta-catenin binding
DNA-dependent ATPase activity
methylated histone binding
histone binding
armadillo repeat domain binding