Hs01572608_cn

• Gene Symbol: RABEP2
• Assay Reference Genome Location: Chr.16:28914380 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 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
RABEP2	NM_024816.2	5	798	NP_079092.2
	AK026935.1	5	798	BAB15594.1
	AK092299.1	5	1339
	AK295229.1	4	570
	BC027584.1	5	1276	AAH27584.1
	BC058900.1	5	801	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	NFATC2IP SPNS1 ATXN2L ATP2A1 SH2B1 ATP2A1-AS1 MIR4721 TUFM LAT MIR4517 RABEP2 CD19
esv3892826	Chr.16:28814728 - 29032129 on Build GRCh38	Gain+Loss	NFATC2IP SPNS1 ATXN2L ATP2A1 SH2B1 ATP2A1-AS1 MIR4721 TUFM LAT MIR4517 RABEP2 CD19
esv2758640	Chr.16:28163817 - 29139232 on Build GRCh38	Gain+Loss	RRN3P2 NUPR1 SH2B1 SGF29 XPO6 EIF3C IL27 ATP2A1 NPIPB9 ATP2A1-AS1 NPIPB8 MIR4721 TUFM LOC101928215 RABEP2 SULT1A1 NFATC2IP SPNS1 CLN3 APOBR SULT1A2 CD19 NPIPB6 SBK1 ATXN2L MIR6862-1 NPIP LAT MIR4517 MIR6862-2 EIF3CL
nsv518648	Chr.16:28826194 - 29032129 on Build GRCh38	Loss	NFATC2IP SPNS1 ATXN2L ATP2A1 SH2B1 ATP2A1-AS1 MIR4721 TUFM LAT MIR4517 RABEP2 CD19
nsv1059555	Chr.16:28373144 - 29195838 on Build GRCh38	Gain	RRN3P2 NUPR1 SH2B1 SGF29 LOC107984832 EIF3C IL27 ATP2A1 NPIPB9 ATP2A1-AS1 NPIPB8 MIR4721 TUFM LOC101928215 RABEP2 SULT1A1 NFATC2IP SPNS1 CLN3 APOBR SULT1A2 CD19 ATXN2L MIR6862-1 NPIP LAT MIR4517 MIR6862-2 EIF3CL
dgv2831n100	Chr.16:28812594 - 29032542 on Build GRCh38	Gain	NFATC2IP SPNS1 ATXN2L ATP2A1 SH2B1 ATP2A1-AS1 MIR4721 TUFM LAT MIR4517 RABEP2 CD19
esv3570454	Chr.16:28799004 - 29032129 on Build GRCh38	Gain	NFATC2IP SPNS1 ATXN2L ATP2A1 SH2B1 ATP2A1-AS1 MIR4721 TUFM LAT MIR4517 RABEP2 CD19
nsv571805	Chr.16:28824174 - 29032129 on Build GRCh38	Loss	NFATC2IP SPNS1 ATXN2L ATP2A1 SH2B1 ATP2A1-AS1 MIR4721 TUFM LAT MIR4517 RABEP2 CD19
dgv2830n100	Chr.16:28620264 - 29032542 on Build GRCh38	Gain	NFATC2IP SPNS1 SH2B1 EIF3C CD19 ATXN2L ATP2A1 NPIPB9 ATP2A1-AS1 NPIPB8 MIR4721 TUFM LAT MIR4517 MIR6862-2 RABEP2 SULT1A1

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