Hs02766938_cn

• Gene Symbol: BACE1
• Assay Reference Genome Location: Chr.11:117286851 on build GRCh38
• Cytoband: 11q23.3

Target Gene Details

• Entrez Gene ID: 23621
• Gene Name: beta-secretase 1
• Gene Aliases: ASP2, BACE, HSPC104
• Location: Chr.11:117285686-117316256 on Build GRCh38
• Assay Gene Location: Within Exon 10

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
BACE1	NM_001207048.1	8	4044	NP_001193977.1
	NM_001207049.1	8	3969	NP_001193978.1
	NM_012104.4	9	4682	NP_036236.1
	NM_138971.3	9	4550	NP_620427.1
	NM_138972.3	9	4607	NP_620428.1
	NM_138973.3	9	4475	NP_620429.1
	AB032975.2	9	4664	BAA86463.2
	AB177847.1	8	3906	BAD66825.1
	AF201468.1	9	4675	AAF18982.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv509443	Chr.11:117255121 - 117293441 on Build GRCh38	Insertion	RNF214 BACE1-AS BACE1

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

protease

Gene Ontology Categories:

Process(es)

proteolysis
membrane protein ectodomain proteolysis
protein catabolic process
cellular protein metabolic process
beta-amyloid metabolic process

Function(s)

beta-amyloid binding
aspartic-type endopeptidase activity
protein binding
peptidase activity
beta-aspartyl-peptidase activity
enzyme binding