Hs01575403_cn

• Gene Symbol: PCED1A
• Assay Reference Genome Location: Chr.20:2840782 on build GRCh38
• Cytoband: 20p13

Target Gene Details

• Entrez Gene ID: 64773
• Gene Name: PC-esterase domain containing 1A
• Gene Aliases: C20orf81, FAM113A, bA12M19.1
• Location: Chr.20:2835314-2841243 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PCED1A	NM_001271168.1			NP_001258097.1
	XM_005260804.2			XP_005260861.1
	AK026029.1			BAB15328.1
	BC014247.2			AAH14247.1
	BE302577.1
	DB276752.1

Target Gene Details

• Entrez Gene ID: 64601
• Gene Name: VPS16, CORVET/HOPS core subunit
• Gene Aliases: hVPS16
• Location: Chr.20:2840697-2866732 on Build GRCh38
• Assay Gene Location: Overlaps Exon 1 - Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
VPS16	NM_022575.3			NP_072097.2
	NM_080413.2			NP_536338.1
	AF308801.1			AAG34678.1
	AK055787.1			BAB71013.1
	BU845142.1
	CN483115.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3645020	Chr.20:2816405 - 2926274 on Build GRCh38	Gain	VPS16 PCED1A TMEM239 PTPRA
nsv1057464	Chr.20:2650623 - 2989686 on Build GRCh38	Gain	MIR1292 VPS16 SNORD57 EBF4 SNORD110 TMEM239 SNORD86 PTPRA C20orf141 PCED1A NOP56 SNORD56 CPXM1 SNORA51 IDH3B
nsv522009	Chr.20:2745032 - 3030542 on Build GRCh38	Gain	VPS16 C20orf141 EBF4 PCED1A TMEM239 CPXM1 PTPRA
nsv833895	Chr.20:2730164 - 2882236 on Build GRCh38	Loss	VPS16 C20orf141 EBF4 PCED1A TMEM239 CPXM1 PTPRA
nsv952978	Chr.20:2835355 - 2842754 on Build GRCh38	Deletion	VPS16 PCED1A
nsv3261	Chr.20:2820663 - 2851754 on Build GRCh38	Deletion	VPS16 PCED1A
esv2762056	Chr.20:2740745 - 2944353 on Build GRCh38	Gain	VPS16 C20orf141 EBF4 PCED1A TMEM239 CPXM1 PTPRA

More Information

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

Panther Classification:

Molecular Function -

membrane traffic protein

Gene Ontology Categories:

Process(es)

intracellular protein transport
endosome to lysosome transport
regulation of vacuole fusion, non-autophagic
regulation of SNARE complex assembly
autophagosome maturation

Function(s)

protein binding
actin binding
actin filament binding