Hs00152745_cn

• Gene Symbol: GRTP1
• Assay Reference Genome Location: Chr.13:113326080 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: Overlaps Intron 8 - Exon 9

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
GRTP1	NM_001286732.1			NP_001273661.1
	NM_001286733.1			NP_001273662.1
	NM_024719.3			NP_078995.2
	XM_005268333.3			XP_005268390.1
	XM_017020755.1			XP_016876244.1
	XM_017020756.1			XP_016876245.1
	AB449887.1
	AK026127.1			BAB15368.1
	AK300897.1
	BC033071.2			AAH33071.2
	BC062461.1			AAH62461.1
	BC080640.1			AAH80640.1
	BC112123.1			AAI12124.1
	BC112125.1			AAI12126.1
	BQ689859.1
	CB242314.1
	CX788865.1

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
nsv1048814	Chr.13:113081728 - 113611496 on Build GRCh38	Gain	LAMP1 LOC101928841 F7 TFDP1 F10-AS1 TMCO3 CUL4A ADPRHL1 F10 LOC102724474 MCF2L PCID2 LOC105370378 MIR8075 GRTP1-AS1 PROZ GRTP1 DCUN1D2
nsv509521	Chr.13:113308960 - 113394480 on Build GRCh38	Insertion	LAMP1 LOC105370378 GRTP1-AS1 GRTP1
nsv563316	Chr.13:113261171 - 113347907 on Build GRCh38	Loss	LAMP1 CUL4A LOC105370378 MIR8075 GRTP1
nsv563318	Chr.13:113319297 - 113430196 on Build GRCh38	Loss	LAMP1 ADPRHL1 LOC101928841 LOC105370378 GRTP1-AS1 GRTP1
nsv563317	Chr.13:113292168 - 113369086 on Build GRCh38	Loss	LAMP1 LOC105370378 GRTP1-AS1 GRTP1

More Information

• Set Membership: Intragenic, 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

Function(s)

GTPase activator activity
Rab GTPase binding