Hs05410437_cn

• Gene Symbol: RABEP2
• Assay Reference Genome Location: Chr.16:28921494 on build GRCh38
• Cytoband: 16p11.2

Target Gene Details

• Entrez Gene ID: 79874
• Gene Name: rabaptin, RAB GTPase binding effector protein 2
• Gene Aliases: FRA
• Location: Chr.16:28904421-28925211 on Build GRCh38
• Assay Gene Location: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
RABEP2	NM_024816.2			NP_079092.2
	AK026935.1			BAB15594.1
	AK092299.1
	AK295229.1
	BC027584.1			AAH27584.1
	BC058900.1			AAH58900.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
dgv4987n54	Chr.16:28824884 - 29032129 on Build GRCh38	Gain	MIR4721 SPNS1 ATP2A1 ATP2A1-AS1 ATXN2L RABEP2 SH2B1 CD19 MIR4517 TUFM NFATC2IP LAT
esv3892826	Chr.16:28814728 - 29032129 on Build GRCh38	Gain+Loss	MIR4721 SPNS1 ATP2A1 ATP2A1-AS1 ATXN2L RABEP2 SH2B1 CD19 MIR4517 TUFM NFATC2IP LAT
esv2758640	Chr.16:28163817 - 29139232 on Build GRCh38	Gain+Loss	SPNS1 SULT1A1 APOBR RRN3P2 MIR6862-1 IL27 MIR4721 EIF3C SGF29 ATP2A1-AS1 NPIP SULT1A2 ATXN2L SH2B1 CD19 NPIPB6 MIR4517 SBK1 TUFM NFATC2IP LAT NUPR1 NPIPB9 LOC101928215 XPO6 ATP2A1 MIR6862-2 CLN3 RABEP2 NPIPB8 EIF3CL
nsv518648	Chr.16:28826194 - 29032129 on Build GRCh38	Loss	MIR4721 SPNS1 ATP2A1 ATP2A1-AS1 ATXN2L RABEP2 SH2B1 CD19 MIR4517 TUFM NFATC2IP LAT
nsv1059555	Chr.16:28373144 - 29195838 on Build GRCh38	Gain	SPNS1 SULT1A1 APOBR RRN3P2 MIR6862-1 IL27 MIR4721 EIF3C SGF29 ATP2A1-AS1 NPIP SULT1A2 ATXN2L SH2B1 CD19 MIR4517 TUFM NFATC2IP LAT NUPR1 NPIPB9 LOC107984832 LOC101928215 ATP2A1 MIR6862-2 CLN3 RABEP2 NPIPB8 EIF3CL
dgv2831n100	Chr.16:28812594 - 29032542 on Build GRCh38	Gain	MIR4721 SPNS1 ATP2A1 ATP2A1-AS1 ATXN2L RABEP2 SH2B1 CD19 MIR4517 TUFM NFATC2IP LAT
esv3570454	Chr.16:28799004 - 29032129 on Build GRCh38	Gain	MIR4721 SPNS1 ATP2A1 ATP2A1-AS1 ATXN2L RABEP2 SH2B1 CD19 MIR4517 TUFM NFATC2IP LAT
nsv571805	Chr.16:28824174 - 29032129 on Build GRCh38	Loss	MIR4721 SPNS1 ATP2A1 ATP2A1-AS1 ATXN2L RABEP2 SH2B1 CD19 MIR4517 TUFM NFATC2IP LAT
dgv2830n100	Chr.16:28620264 - 29032542 on Build GRCh38	Gain	SPNS1 SULT1A1 NPIPB9 MIR4721 ATP2A1 EIF3C ATP2A1-AS1 ATXN2L MIR6862-2 RABEP2 SH2B1 CD19 NPIPB8 MIR4517 TUFM NFATC2IP LAT

More Information

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

Gene Ontology Categories:

Process(es)

endocytosis
protein transport
positive regulation of GTPase activity

Function(s)

GTPase activator activity
growth factor activity