Hs06423093_cn

• Gene Symbol: TOM1L1
• Assay Reference Genome Location: Chr.17:54909442 on build GRCh38
• Cytoband: 17q22

Target Gene Details

• Entrez Gene ID: 10040
• Gene Name: target of myb1 like 1 membrane trafficking protein
• Gene Aliases: SRCASM
• Location: Chr.17:54900691-54961967 on Build GRCh38
• Assay Gene Location: Within Intron 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
TOM1L1	NM_001321173.1			NP_001308102.1
	NM_001321174.1			NP_001308103.1
	NM_001321175.1			NP_001308104.1
	NM_001321176.1			NP_001308105.1
	NM_005486.2			NP_005477.2
	XM_017024002.1			XP_016879491.1
	AJ010071.1			CAA08993.1
	AK001893.1
	AK223125.1			BAD96845.1
	AK225351.1
	AK300823.1
	AK303912.1
	AK303913.1
	AK309164.1
	AK315039.1
	AK315907.1
	BC029396.1			AAH29396.1

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	COX11 TOM1L1 STXBP4
esv3640828	Chr.17:54782906 - 54915079 on Build GRCh38	Gain	TOM1L1

More Information

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

Gene Ontology Categories:

Process(es)

intracellular protein transport
signal transduction
positive regulation of protein autophosphorylation
activation of protein kinase activity
ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway
negative regulation of mitotic nuclear division
regulation of DNA biosynthetic process

Function(s)

protein binding
SH3 domain binding
protein kinase binding
clathrin binding
protein kinase activator activity
ubiquitin binding