Hs01553295_cn

• Gene Symbol: USE1
• Assay Reference Genome Location: Chr.19:17215436 on build GRCh38
• Cytoband: 19p13.11

Target Gene Details

• Entrez Gene ID: 55850
• Gene Name: unconventional SNARE in the ER 1
• Gene Aliases: D12, MDS032, P31, SLT1
• Location: Chr.19:17214528-17219831 on Build GRCh38
• Assay Gene Location: Within Exon 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
USE1	NM_018467.3	1	91	NP_060937.1
	XM_017026975.1	2	801	XP_016882464.1
	XM_017026976.1	1	91	XP_016882465.1
	AB097050.1	1	63	BAC77403.1
	AF220052.1	1	63	AAF67645.1
	AK074683.1	1	47	BAC11136.1
	BC006005.1	1	47	AAH06005.1
	BC008455.1			AAH08455.1
	BI758045.1	1	78
	DA506853.1	1	91

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv458373	Chr.19:17183487 - 17226535 on Build GRCh38	Loss	OCEL1 USE1 MYO9B
nsv470129	Chr.19:17188084 - 17341718 on Build GRCh38	Loss	USHBP1 ANO8 OCEL1 DDA1 USE1 NR2F6 ANKLE1 MRPL34 GTPBP3 BABAM1 ABHD8 MYO9B

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

ER to Golgi vesicle-mediated transport
retrograde vesicle-mediated transport, Golgi to ER
lysosomal transport
protein transport
protein catabolic process
secretion by cell

Function(s)

protein binding