Hs01890963_cn

• Gene Symbol: TBC1D9B
• Assay Reference Genome Location: Chr.5:179862914 on build GRCh38
• Cytoband: 5q35.3

Target Gene Details

• Entrez Gene ID: 23061
• Gene Name: TBC1 domain family member 9B
• Gene Aliases: GRAMD9B
• Location: Chr.5:179862071-179907856 on Build GRCh38
• Assay Gene Location: Within Exon 22

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
TBC1D9B	NM_015043.3	21	4273	NP_055858.2
	NM_198868.2	22	4324	NP_942568.2
	AB014576.1	22	4324
	AK001196.1	8	1886
	AK001473.1	3	1348
	AK026096.1	1	835
	AK074791.1	11	2355
	AK123874.1	4	2740
	BC000701.2	8	1907	AAH00701.1
	BC008919.2	10	2255	AAH08919.3
	BC080659.1	10	2334	AAH80659.1
	BX641107.1	2	2990	CAE46050.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv469579	Chr.5:179757830 - 179933191 on Build GRCh38	Loss	LTC4S MGAT4B MAML1 LOC100996419 SQSTM1 MIR1229 C5orf45 TBC1D9B RNF130
esv3607755	Chr.5:179853436 - 179869950 on Build GRCh38	Loss	LOC100996419 C5orf45 TBC1D9B
nsv823362	Chr.5:179862854 - 179863413 on Build GRCh38	Loss	TBC1D9B

More Information

• Set Membership: Intragenic, 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
calcium ion binding
protein binding
Rab GTPase binding