Hs04425099_cn

• Gene Symbol: GRTP1
• Assay Reference Genome Location: Chr.13:113324562 on build GRCh38
• Cytoband: 13q34

Target Gene Details

• Entrez Gene ID: 79774
• Gene Name: growth hormone regulated TBC protein 1
• Gene Aliases: TBC1D6
• Location: Chr.13:113324164-113364158 on Build GRCh38
• Assay Gene Location: Within Exon 10

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
GRTP1	NM_001286733.1			NP_001273662.1
	NM_024719.3			NP_078995.2
	XM_005268333.3	6	1954	XP_005268390.1
	XM_017020755.1	7	2075	XP_016876244.1
	XM_017020756.1	8	2255	XP_016876245.1
	AW243250.1
	BC033071.2			AAH33071.2
	BC062461.1			AAH62461.1
	BC080640.1			AAH80640.1
	BQ689859.1
	CB242314.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv951927	Chr.13:113312286 - 113380185 on Build GRCh38	Deletion	LAMP1 LOC105370378 GRTP1-AS1 GRTP1
esv3633598	Chr.13:113310386 - 113324953 on Build GRCh38	Loss	LAMP1 GRTP1
nsv1048814	Chr.13:113081728 - 113611496 on Build GRCh38	Gain	F7 F10-AS1 ADPRHL1 GRTP1 PROZ MIR8075 LOC102724474 TMCO3 LOC101928841 DCUN1D2 TFDP1 LAMP1 PCID2 F10 LOC105370378 MCF2L GRTP1-AS1 CUL4A
nsv509521	Chr.13:113308960 - 113394480 on Build GRCh38	Insertion	LAMP1 LOC105370378 GRTP1-AS1 GRTP1
nsv563316	Chr.13:113261171 - 113347907 on Build GRCh38	Loss	MIR8075 LAMP1 LOC105370378 GRTP1 CUL4A
nsv563318	Chr.13:113319297 - 113430196 on Build GRCh38	Loss	LOC101928841 LAMP1 LOC105370378 GRTP1-AS1 ADPRHL1 GRTP1
nsv563317	Chr.13:113292168 - 113369086 on Build GRCh38	Loss	LAMP1 LOC105370378 GRTP1-AS1 GRTP1

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

Function(s)

GTPase activator activity
Rab GTPase binding