Hs02515922_cn

• Gene Symbol: RABEP2
• Assay Reference Genome Location: Chr.16:28924544 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 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
RABEP2	NM_024816.2	2	181	NP_079092.2
	AK026935.1	2	181	BAB15594.1
	AK092299.1	2	722
	AK295229.1
	BC027584.1	2	659	AAH27584.1
	BC058900.1	2	184	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 ATP2A1 SPNS1 LAT CD19 ATP2A1-AS1 NFATC2IP RABEP2 SH2B1 MIR4517 TUFM ATXN2L
esv3892826	Chr.16:28814728 - 29032129 on Build GRCh38	Gain+Loss	MIR4721 ATP2A1 SPNS1 LAT CD19 ATP2A1-AS1 NFATC2IP RABEP2 SH2B1 MIR4517 TUFM ATXN2L
esv2758640	Chr.16:28163817 - 29139232 on Build GRCh38	Gain+Loss	MIR4721 SBK1 NFATC2IP MIR6862-1 SH2B1 RRN3P2 APOBR ATXN2L XPO6 LAT CD19 LOC101928215 NPIPB9 ATP2A1-AS1 SGF29 NPIPB6 MIR6862-2 TUFM SULT1A2 ATP2A1 EIF3CL SPNS1 IL27 RABEP2 NPIP NUPR1 CLN3 SULT1A1 NPIPB8 MIR4517 EIF3C
nsv518648	Chr.16:28826194 - 29032129 on Build GRCh38	Loss	MIR4721 ATP2A1 SPNS1 LAT CD19 ATP2A1-AS1 NFATC2IP RABEP2 SH2B1 MIR4517 TUFM ATXN2L
nsv1059555	Chr.16:28373144 - 29195838 on Build GRCh38	Gain	MIR4721 NFATC2IP MIR6862-1 SH2B1 RRN3P2 APOBR ATXN2L LOC107984832 LAT CD19 LOC101928215 NPIPB9 ATP2A1-AS1 SGF29 MIR6862-2 TUFM SULT1A2 ATP2A1 EIF3CL SPNS1 IL27 RABEP2 NPIP NUPR1 CLN3 SULT1A1 NPIPB8 MIR4517 EIF3C
dgv2831n100	Chr.16:28812594 - 29032542 on Build GRCh38	Gain	MIR4721 ATP2A1 SPNS1 LAT CD19 ATP2A1-AS1 NFATC2IP RABEP2 SH2B1 MIR4517 TUFM ATXN2L
esv3570454	Chr.16:28799004 - 29032129 on Build GRCh38	Gain	MIR4721 ATP2A1 SPNS1 LAT CD19 ATP2A1-AS1 NFATC2IP RABEP2 SH2B1 MIR4517 TUFM ATXN2L
nsv571805	Chr.16:28824174 - 29032129 on Build GRCh38	Loss	MIR4721 ATP2A1 SPNS1 LAT CD19 ATP2A1-AS1 NFATC2IP RABEP2 SH2B1 MIR4517 TUFM ATXN2L
dgv2830n100	Chr.16:28620264 - 29032542 on Build GRCh38	Gain	MIR4721 ATP2A1 SPNS1 NFATC2IP RABEP2 SH2B1 ATXN2L LAT CD19 NPIPB9 ATP2A1-AS1 SULT1A1 NPIPB8 MIR6862-2 MIR4517 TUFM EIF3C

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