Hs05330455_cn

• Gene Symbol: CHAC1
• Assay Reference Genome Location: Chr.15:40948157 on build GRCh38
• Cytoband: 15q15.1

Target Gene Details

• Entrez Gene ID: 79094
• Gene Name: ChaC glutathione specific gamma-glutamylcyclotransferase 1
• Gene Aliases: -
• Location: Chr.15:40942135-40956519 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CHAC1	XM_017022563.1			XP_016878052.1
	XM_017022564.1			XP_016878053.1
	XM_017022565.1			XP_016878054.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv977703	Chr.15:40948061 - 40948664 on Build GRCh38	Duplication	CHAC1
nsv1504	Chr.15:40936351 - 40969374 on Build GRCh38	Insertion	CHAC1 DLL4

More Information

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Gene Ontology Categories:

Process(es)

glutathione biosynthetic process
response to unfolded protein
Notch signaling pathway
negative regulation of protein processing
neurogenesis
negative regulation of Notch signaling pathway
intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress

Function(s)

gamma-glutamylcyclotransferase activity
Notch binding
protein binding