Hs02365429_cn

• Gene Symbol: RABEP2
• Assay Reference Genome Location: Chr.16:28911113 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 6

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
RABEP2	NM_024816.2	6	1009	NP_079092.2
	AK026935.1	6	1009	BAB15594.1
	AK092299.1	6	1550
	AK295229.1	5	781
	BC027584.1	6	1487	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	SH2B1 CD19 RABEP2 ATP2A1 ATXN2L MIR4721 ATP2A1-AS1 SPNS1 NFATC2IP TUFM MIR4517 LAT
esv3892826	Chr.16:28814728 - 29032129 on Build GRCh38	Gain+Loss	SH2B1 CD19 RABEP2 ATP2A1 ATXN2L MIR4721 ATP2A1-AS1 SPNS1 NFATC2IP TUFM MIR4517 LAT
esv2758640	Chr.16:28163817 - 29139232 on Build GRCh38	Gain+Loss	EIF3CL CD19 LOC101928215 ATXN2L ATP2A1-AS1 SPNS1 NFATC2IP TUFM NPIPB9 MIR4517 SGF29 LAT RRN3P2 SBK1 SULT1A1 EIF3C XPO6 IL27 SH2B1 MIR6862-1 NPIPB8 NPIPB6 CLN3 MIR4721 MIR6862-2 SULT1A2 NPIP RABEP2 APOBR ATP2A1 NUPR1
nsv518648	Chr.16:28826194 - 29032129 on Build GRCh38	Loss	SH2B1 CD19 RABEP2 ATP2A1 ATXN2L MIR4721 ATP2A1-AS1 SPNS1 NFATC2IP TUFM MIR4517 LAT
nsv1059555	Chr.16:28373144 - 29195838 on Build GRCh38	Gain	EIF3CL CD19 LOC101928215 ATXN2L ATP2A1-AS1 SPNS1 NFATC2IP TUFM NPIPB9 MIR4517 SGF29 LAT RRN3P2 SULT1A1 LOC107984832 EIF3C IL27 SH2B1 MIR6862-1 NPIPB8 CLN3 MIR4721 MIR6862-2 SULT1A2 NPIP RABEP2 APOBR ATP2A1 NUPR1
dgv2831n100	Chr.16:28812594 - 29032542 on Build GRCh38	Gain	SH2B1 CD19 RABEP2 ATP2A1 ATXN2L MIR4721 ATP2A1-AS1 SPNS1 NFATC2IP TUFM MIR4517 LAT
esv3570454	Chr.16:28799004 - 29032129 on Build GRCh38	Gain	SH2B1 CD19 RABEP2 ATP2A1 ATXN2L MIR4721 ATP2A1-AS1 SPNS1 NFATC2IP TUFM MIR4517 LAT
nsv571805	Chr.16:28824174 - 29032129 on Build GRCh38	Loss	SH2B1 CD19 RABEP2 ATP2A1 ATXN2L MIR4721 ATP2A1-AS1 SPNS1 NFATC2IP TUFM MIR4517 LAT
dgv2830n100	Chr.16:28620264 - 29032542 on Build GRCh38	Gain	SH2B1 CD19 NPIPB8 ATXN2L MIR4721 ATP2A1-AS1 SPNS1 NFATC2IP TUFM NPIPB9 MIR6862-2 MIR4517 LAT RABEP2 ATP2A1 SULT1A1 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