Hs05078537_cn

• Gene Symbol: TBC1D13
• Assay Reference Genome Location: Chr.9:128787503 on build GRCh38
• Cytoband: 9q34.11

Target Gene Details

• Entrez Gene ID: 54662
• Gene Name: TBC1 domain family member 13
• Gene Aliases: -
• Location: Chr.9:128787207-128810432 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
TBC1D13	NM_001286772.1			NP_001273701.1
	NM_018201.4			NP_060671.3
	XM_005252060.2			XP_005252117.1
	AB449899.1
	AK001605.1			BAA91784.1
	AK123828.1
	AK289777.1
	BC132817.1
	BC136509.1
	BC150311.1
	BG716911.1
	DC325060.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv615412	Chr.9:128754559 - 128824961 on Build GRCh38	Loss	SPOUT1 ENDOG TBC1D13 ZER1
nsv615411	Chr.9:128727172 - 128829871 on Build GRCh38	Loss	SPOUT1 LOC100506100 ENDOG TBC1D13 ZER1

More Information

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

Panther Classification:

Molecular Function -

GTPase-activating protein

Gene Ontology Categories:

Process(es)

intracellular protein transport
regulation of vesicle fusion
activation of GTPase activity
regulation of cilium assembly

Function(s)

GTPase activator activity
Rab GTPase binding