Hs06417758_cn

• Gene Symbol: RABEP1
• Assay Reference Genome Location: Chr.17:5285506 on build GRCh38
• Cytoband: 17p13.2

Target Gene Details

• Entrez Gene ID: 9135
• Gene Name: rabaptin, RAB GTPase binding effector protein 1
• Gene Aliases: RAB5EP, RABPT5
• Location: Chr.17:5282263-5386340 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
RABEP1	NM_001083585.2			NP_001077054.1
	NM_001291581.1			NP_001278510.1
	NM_001291582.1			NP_001278511.1
	NM_004703.5			NP_004694.2
	XM_011524060.1			XP_011522362.1
	AF098638.1			AAC70781.1
	AK297535.1
	AK310932.1
	AK314183.1
	BC032435.1
	BC041700.1			AAH41700.1
	BI666786.1
	DB169027.1
	X77723.1
	X91141.1			CAA62580.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv574273	Chr.17:4585589 - 5460332 on Build GRCh38	Gain	C1QBP INCA1 ENO3 ARRB2 PELP1 MIR6864 CXCL16 LOC102724009 DHX33 MINK1 LOC400568 RNF167 GP1BA NUP88 ALOX15 LOC101928000 RABEP1 ZNF594 ZNF232 LOC101927979 VMO1 LOC101559451 PSMB6 ZMYND15 SLC52A1 USP6 PLD2 PFN1 SCIMP LOC107984973 KIF1C SLC25A11 RPAIN LOC100130950 MED11 TM4SF5 ZFP3 SPAG7 CAMTA2 GLTPD2 MIR6865 C17orf107 SMTNL2 CHRNE
dgv3089n100	Chr.17:5187013 - 5327634 on Build GRCh38	Gain	LOC100130950 RABEP1 SCIMP ZNF594

More Information

Additional Information:

For this assay, SNP(s) [rs75090252] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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

Gene Ontology Categories:

Process(es)

endocytosis
apoptotic process
protein transport
vesicle-mediated transport
positive regulation of GTPase activity
membrane fusion

Function(s)

GTPase activator activity
protein binding
growth factor activity
protein homodimerization activity