Hs02905720_cn

• Gene Symbol: RABEP2
• Assay Reference Genome Location: Chr.16:28904785 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 13

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
RABEP2	NM_024816.2	13	1916	NP_079092.2
	AK026935.1	13	1915	BAB15594.1
	AK092299.1	13	2457
	AK295229.1
	BC058900.1	11	1811	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	RABEP2 NFATC2IP ATP2A1 TUFM SH2B1 ATXN2L ATP2A1-AS1 MIR4517 SPNS1 MIR4721 LAT CD19
esv3892826	Chr.16:28814728 - 29032129 on Build GRCh38	Gain+Loss	RABEP2 NFATC2IP ATP2A1 TUFM SH2B1 ATXN2L ATP2A1-AS1 MIR4517 SPNS1 MIR4721 LAT CD19
esv3638349	Chr.16:28860611 - 28907894 on Build GRCh38	Gain	RABEP2 ATP2A1 SH2B1 ATP2A1-AS1
esv2758640	Chr.16:28163817 - 29139232 on Build GRCh38	Gain+Loss	ATP2A1 RRN3P2 SBK1 SULT1A1 MIR4517 LAT NFATC2IP EIF3CL EIF3C SH2B1 ATP2A1-AS1 NUPR1 MIR6862-2 SPNS1 LOC101928215 APOBR RABEP2 NPIPB8 NPIPB9 ATXN2L IL27 CLN3 SGF29 XPO6 MIR6862-1 NPIPB6 TUFM SULT1A2 MIR4721 NPIP CD19
nsv518648	Chr.16:28826194 - 29032129 on Build GRCh38	Loss	RABEP2 NFATC2IP ATP2A1 TUFM SH2B1 ATXN2L ATP2A1-AS1 MIR4517 SPNS1 MIR4721 LAT CD19
nsv1059555	Chr.16:28373144 - 29195838 on Build GRCh38	Gain	ATP2A1 RRN3P2 SULT1A1 MIR4517 LAT NFATC2IP EIF3CL EIF3C SH2B1 ATP2A1-AS1 NUPR1 MIR6862-2 SPNS1 LOC101928215 APOBR RABEP2 NPIPB8 NPIPB9 ATXN2L IL27 CLN3 SGF29 MIR6862-1 TUFM LOC107984832 SULT1A2 MIR4721 NPIP CD19
dgv2831n100	Chr.16:28812594 - 29032542 on Build GRCh38	Gain	RABEP2 NFATC2IP ATP2A1 TUFM SH2B1 ATXN2L ATP2A1-AS1 MIR4517 SPNS1 MIR4721 LAT CD19
esv3570454	Chr.16:28799004 - 29032129 on Build GRCh38	Gain	RABEP2 NFATC2IP ATP2A1 TUFM SH2B1 ATXN2L ATP2A1-AS1 MIR4517 SPNS1 MIR4721 LAT CD19
nsv571805	Chr.16:28824174 - 29032129 on Build GRCh38	Loss	RABEP2 NFATC2IP ATP2A1 TUFM SH2B1 ATXN2L ATP2A1-AS1 MIR4517 SPNS1 MIR4721 LAT CD19
dgv2830n100	Chr.16:28620264 - 29032542 on Build GRCh38	Gain	RABEP2 ATP2A1 NPIPB8 NPIPB9 ATXN2L SULT1A1 MIR4517 LAT NFATC2IP EIF3C TUFM SH2B1 ATP2A1-AS1 MIR6862-2 SPNS1 MIR4721 CD19

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