Hs00738630_cn

• Gene Symbol: RABEP2
• Assay Reference Genome Location: Chr.16:28906104 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 Exon 9

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
RABEP2	NM_024816.2	9	1386	NP_079092.2
	AK026935.1	9	1386	BAB15594.1
	AK092299.1	9	1927
	AK295229.1	8	1158
	BC058900.1	8	1293	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	SH2B1 LAT SPNS1 NFATC2IP ATP2A1-AS1 CD19 MIR4721 TUFM ATP2A1 ATXN2L RABEP2 MIR4517
esv3892826	Chr.16:28814728 - 29032129 on Build GRCh38	Gain+Loss	SH2B1 LAT SPNS1 NFATC2IP ATP2A1-AS1 CD19 MIR4721 TUFM ATP2A1 ATXN2L RABEP2 MIR4517
esv3638349	Chr.16:28860611 - 28907894 on Build GRCh38	Gain	SH2B1 ATP2A1-AS1 ATP2A1 RABEP2
esv2758640	Chr.16:28163817 - 29139232 on Build GRCh38	Gain+Loss	SULT1A1 CD19 MIR4721 APOBR TUFM SGF29 NPIP NUPR1 XPO6 SH2B1 ATP2A1-AS1 RRN3P2 MIR6862-2 EIF3CL RABEP2 MIR4517 LAT IL27 SBK1 NPIPB8 NPIPB9 ATP2A1 CLN3 ATXN2L SPNS1 NFATC2IP SULT1A2 NPIPB6 EIF3C LOC101928215 MIR6862-1
nsv519100	Chr.16:28826194 - 29032129 on Build GRCh38	Gain	SH2B1 LAT SPNS1 NFATC2IP ATP2A1-AS1 CD19 MIR4721 TUFM ATP2A1 ATXN2L RABEP2 MIR4517
nsv1059555	Chr.16:28373144 - 29195838 on Build GRCh38	Gain	SULT1A1 CD19 MIR4721 APOBR TUFM SGF29 NPIP NUPR1 SH2B1 ATP2A1-AS1 RRN3P2 LOC107984832 MIR6862-2 EIF3CL RABEP2 MIR4517 LAT IL27 NPIPB8 NPIPB9 ATP2A1 CLN3 ATXN2L SPNS1 NFATC2IP SULT1A2 EIF3C LOC101928215 MIR6862-1
dgv2831n100	Chr.16:28812594 - 29032542 on Build GRCh38	Gain	SH2B1 LAT SPNS1 NFATC2IP ATP2A1-AS1 CD19 MIR4721 TUFM ATP2A1 ATXN2L RABEP2 MIR4517
esv3570454	Chr.16:28799004 - 29032129 on Build GRCh38	Gain	SH2B1 LAT SPNS1 NFATC2IP ATP2A1-AS1 CD19 MIR4721 TUFM ATP2A1 ATXN2L RABEP2 MIR4517
nsv571805	Chr.16:28824174 - 29032129 on Build GRCh38	Loss	SH2B1 LAT SPNS1 NFATC2IP ATP2A1-AS1 CD19 MIR4721 TUFM ATP2A1 ATXN2L RABEP2 MIR4517
dgv2830n100	Chr.16:28620264 - 29032542 on Build GRCh38	Gain	LAT SULT1A1 CD19 MIR4721 TUFM NPIPB8 NPIPB9 ATP2A1 ATXN2L SH2B1 SPNS1 NFATC2IP ATP2A1-AS1 EIF3C MIR6862-2 RABEP2 MIR4517

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

endocytosis
protein transport
positive regulation of GTPase activity

Function(s)

GTPase activator activity
growth factor activity