Hs02792422_cn

• Gene Symbol: BECN1
• Assay Reference Genome Location: Chr.17:42810186 on build GRCh38
• Cytoband: 17q21.31

Target Gene Details

• Entrez Gene ID: 8678
• Gene Name: beclin 1
• Gene Aliases: ATG6, VPS30, beclin1
• Location: Chr.17:42810132-42824316 on Build GRCh38
• Assay Gene Location: Within Exon 13

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
BECN1	NM_001313998.1	12	2091	NP_001300927.1
	NM_001313999.1	10	1786	NP_001300928.1
	NM_001314000.1	9	1720	NP_001300929.1
	NM_003766.4	12	2113	NP_003757.1
	XM_005257759.2	10	1831	XP_005257816.1
	XM_005257760.3	11	1892	XP_005257817.1
	XM_011525421.2	12	2018	XP_011523723.1
	XM_017025262.1	12	2091	XP_016880751.1
	XM_017025263.1	10	1904	XP_016880752.1
	XM_017025264.1	11	1965	XP_016880753.1
	AA427906.1	1	65
	AF139131.1			AAD27650.1
	BC010276.1	12	2060	AAH10276.1
	BI496049.1	1	212
	BX647788.1	9	4816
	L38932.1			AAB59573.1

Target Gene Details

• Entrez Gene ID: 124817
• Gene Name: cyclin N-terminal domain containing 1
• Gene Aliases: CNTD
• Location: Chr.17:42798667-42811587 on Build GRCh38
• Assay Gene Location: Within Exon 8

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CNTD1	NM_173478.2	7	1876	NP_775749.2
	XM_005257043.4	7	1639	XP_005257100.1
	XM_005257044.4	7	1657	XP_005257101.1
	XM_005257045.4	6	1799	XP_005257102.1
	XM_006721690.2	7	1904	XP_006721753.1
	XM_011524310.2	7	1823	XP_011522612.1
	XM_011524311.2	6	1481	XP_011522613.1
	XM_017024171.1	6	1827	XP_016879660.1
	AK097456.1	7	1792	BAC05060.1
	AL833052.1	5	1256	CAH56287.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv833450	Chr.17:42660985 - 42825144 on Build GRCh38	Loss	RAMP2-AS1 PLEKHH3 MIR6780A EZH1 RAMP2 MIR6781 CNTD1 VPS25 WNK4 TUBG2 COA3 CNTNAP1 CCR10 BECN1

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

protease inhibitor

Gene Ontology Categories:

Process(es)

autophagosome assembly
cytokinesis
response to hypoxia
autophagy
apoptotic process
cellular defense response
cellular response to nitrogen starvation
lysosome organization
mitotic metaphase plate congression
negative regulation of cell proliferation
positive regulation of autophagy
positive regulation of phosphatidylinositol 3-kinase signaling
macroautophagy
positive regulation of macroautophagy
CVT pathway
regulation of cytokinesis
receptor catabolic process
response to vitamin E
cellular response to glucose starvation
response to drug
negative regulation of apoptotic process
engulfment of apoptotic cell
nucleophagy
late endosome to vacuole transport
neuron development
beta-amyloid metabolic process
regulation of catalytic activity
defense response to virus
negative regulation of cell death
cellular response to aluminum ion
cellular response to epidermal growth factor stimulus
mitophagy in response to mitochondrial depolarization
positive regulation of attachment of mitotic spindle microtubules to kinetochore
positive regulation of mitophagy
negative regulation of reactive oxygen species metabolic process
reciprocal meiotic recombination
spermatogenesis

Function(s)

protein binding
ubiquitin protein ligase binding
phosphatidylinositol 3-kinase binding