Hs05406169_cn

• Gene Symbol: RABEP2
• Assay Reference Genome Location: Chr.16:28917246 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 3

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

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