Hs01165016_cn

• Gene Symbol: RABEP2
• Assay Reference Genome Location: Chr.16:28914265 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: Overlaps Intron 5 - Exon 5

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

More Information

• Set Membership: Intragenic, 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