Hs06620937_cn

• Gene Symbol: BCHE
• Assay Reference Genome Location: Chr.3:165796765 on build GRCh38
• Cytoband: 3q26.1

Target Gene Details

• Entrez Gene ID: 590
• Gene Name: butyrylcholinesterase
• Gene Aliases: CHE1, CHE2, E1
• Location: Chr.3:165772904-165837467 on Build GRCh38
• Assay Gene Location: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
BCHE	XM_017006967.1			XP_016862456.1
	AK292063.1
	BC008396.1			AAH08396.1
	BC018141.1			AAH18141.1
	CD014089.1
	M16474.1			AAA52015.1
	M16541.1			AAA98113.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
dgv8724n54	Chr.3:165721745 - 165840684 on Build GRCh38	Loss	BCHE
nsv592472	Chr.3:165464658 - 166106549 on Build GRCh38	Gain	BCHE LINC01322
esv3598511	Chr.3:165730641 - 165812290 on Build GRCh38	Loss	BCHE
nsv520596	Chr.3:165787389 - 166149690 on Build GRCh38	Gain+Loss	BCHE
nsv428426	Chr.3:164382966 - 165879735 on Build GRCh38	Loss	SI SLITRK3 BCHE LINC01324 LINC01322 LOC101928405
dgv4977n100	Chr.3:165787737 - 165884781 on Build GRCh38	Loss	BCHE
esv3598510	Chr.3:165729982 - 165943642 on Build GRCh38	Loss	BCHE
esv3893808	Chr.3:165596587 - 166056006 on Build GRCh38	Loss	BCHE
esv2657931	Chr.3:165729972 - 165943688 on Build GRCh38	Deletion	BCHE

More Information

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

Panther Classification:

Molecular Function -

esterase

Gene Ontology Categories:

Process(es)

learning
negative regulation of cell proliferation
neuroblast differentiation
choline metabolic process
response to drug
response to alkaloid
cocaine metabolic process
negative regulation of synaptic transmission
response to glucocorticoid
response to folic acid

Function(s)

beta-amyloid binding
catalytic activity
acetylcholinesterase activity
cholinesterase activity
hydrolase activity, acting on ester bonds
enzyme binding
choline binding
identical protein binding