Hs05506137_cn

• Gene Symbol: STXBP4
• Assay Reference Genome Location: Chr.17:54972965 on build GRCh38
• Cytoband: 17q22

Target Gene Details

• Entrez Gene ID: 252983
• Gene Name: syntaxin binding protein 4
• Gene Aliases: Synip
• Location: Chr.17:54968728-55164285 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
STXBP4	NM_178509.5			NP_848604.3
	XM_005257187.4			XP_005257244.1
	XM_006721797.3			XP_006721860.1
	XM_006721798.3			XP_006721861.1
	XM_017024410.1			XP_016879899.1
	XM_017024411.1			XP_016879900.1
	XM_017024412.1			XP_016879901.1
	XM_017024414.1			XP_016879903.1
	XM_017024415.1			XP_016879904.1
	AK122865.1			BAC85511.1
	BC041485.2			AAH41485.1
	BC125116.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
dgv3266n100	Chr.17:54817463 - 55002289 on Build GRCh38	Loss	TOM1L1 STXBP4 COX11
nsv575661	Chr.17:54910871 - 54982748 on Build GRCh38	Loss	TOM1L1 STXBP4 COX11
dgv5708n54	Chr.17:54962122 - 55083585 on Build GRCh38	Loss	STXBP4 COX11
esv3640830	Chr.17:54919823 - 54998005 on Build GRCh38	Gain	TOM1L1 STXBP4 COX11
nsv522299	Chr.17:54966408 - 55196549 on Build GRCh38	Loss	STXBP4 COX11

More Information

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

Gene Ontology Categories:

Process(es)

protein targeting
cellular response to DNA damage stimulus
insulin receptor signaling pathway
positive regulation of keratinocyte proliferation
glucose transport
protein stabilization
regulation of insulin secretion involved in cellular response to glucose stimulus
positive regulation of cell cycle G1/S phase transition

Function(s)

protein binding
syntaxin binding