Hs01388329_cn

• Gene Symbol: CHAC1
• Assay Reference Genome Location: Chr.15:40953716 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 Exon 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CHAC1	NM_001142776.1	1	279	NP_001136248.1
	NM_024111.3	1	279	NP_077016.2
	XM_017022563.1	2	4803	XP_016878052.1
	XM_017022564.1	3	2585	XP_016878053.1
	XM_017022565.1	2	4792	XP_016878054.1
	AY702027.1	1	141
	BC001683.1	1	233	AAH01683.1
	BC001847.2	1	224	AAH01847.1
	BC019625.1	1	235	AAH19625.1
	BQ900544.1	1	279

Target Copy Number Variation Details

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

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

More Information

• Set Membership: Intragenic, 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