Hs01913349_cn

• Gene Symbol: SEC22B
• Assay Reference Genome Location: Chr.1:120176504 on build GRCh38
• Cytoband: 1p12

Target Gene Details

• Entrez Gene ID: 9554
• Gene Name: SEC22 homolog B, vesicle trafficking protein (gene/pseudogene)
• Gene Aliases: ERS-24, SEC22L1
• Location: Chr.1:120152520-120176534 on Build GRCh38
• Assay Gene Location: Overlaps - Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SEC22B	NM_004892.5			NP_004883.3
	XM_017002856.1			XP_016858345.1
	AK289875.1
	BC001364.2			AAH01364.1
	CD619408.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv957355	Chr.1:120175848 - 120179977 on Build GRCh38	Deletion	SEC22B
nsv161167	Chr.1:120175846 - 120179977 on Build GRCh38	Deletion	SEC22B
nsv1078169	Chr.1:120175839 - 120179943 on Build GRCh38	Deletion	SEC22B
esv2849791	Chr.1:120175845 - 120179977 on Build GRCh38	Deletion	SEC22B
dgv7e180	Chr.1:120175834 - 120179977 on Build GRCh38	Deletion	SEC22B
nsv524681	Chr.1:118890895 - 121570001 on Build GRCh38	Gain	LOC101929798 LOC105369199 FCGR1B NOTCH2 REG4 HSD3BP4 LOC100996724 HIST2H2BA NBPF26 LINC00623 RNVU1-19 LOC101929796 WARS2 HSD3B2 EMBP1 NBPF7 SEC22B PPIAL4A LOC100996318 PFN1P2 NBPF8 LOC100996720 SRGAP2-AS1 FAM72B HSD3B1 LOC105378933 TBX15 WARS2-IT1 LOC100996721 LINC00622 ADAM30 SRGAP2C RNVU1-4 PHGDH LOC101929147 HAO2-IT1 HAO2 ZNF697 HMGCS2

More Information

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

Gene Ontology Categories:

Process(es)

exocytosis
ER to Golgi vesicle-mediated transport
retrograde vesicle-mediated transport, Golgi to ER
protein transport
regulation of organelle organization
positive regulation of protein catabolic process
COPII vesicle coating
vesicle fusion with Golgi apparatus

Function(s)

SNARE binding
SNAP receptor activity
protein binding
syntaxin binding