Hs05414148_cn

• Gene Symbol: RABEP2
• Assay Reference Genome Location: Chr.16:28907058 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 8

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
	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-AS1 ATP2A1 CD19 RABEP2 MIR4721 SH2B1 MIR4517 TUFM LAT NFATC2IP ATXN2L SPNS1
esv3892826	Chr.16:28814728 - 29032129 on Build GRCh38	Gain+Loss	ATP2A1-AS1 ATP2A1 CD19 RABEP2 MIR4721 SH2B1 MIR4517 TUFM LAT NFATC2IP ATXN2L SPNS1
esv3638349	Chr.16:28860611 - 28907894 on Build GRCh38	Gain	ATP2A1-AS1 ATP2A1 RABEP2 SH2B1
esv2758640	Chr.16:28163817 - 29139232 on Build GRCh38	Gain+Loss	CLN3 ATP2A1 CD19 NPIPB8 SH2B1 NPIPB9 SBK1 MIR4517 SGF29 RABEP2 MIR4721 LOC101928215 NPIPB6 EIF3C EIF3CL IL27 XPO6 NUPR1 LAT ATXN2L SULT1A1 MIR6862-2 ATP2A1-AS1 NPIP MIR6862-1 TUFM RRN3P2 NFATC2IP SPNS1 SULT1A2 APOBR
nsv518648	Chr.16:28826194 - 29032129 on Build GRCh38	Loss	ATP2A1-AS1 ATP2A1 CD19 RABEP2 MIR4721 SH2B1 MIR4517 TUFM LAT NFATC2IP ATXN2L SPNS1
nsv1059555	Chr.16:28373144 - 29195838 on Build GRCh38	Gain	CLN3 ATP2A1 CD19 NPIPB8 SH2B1 NPIPB9 MIR4517 LOC107984832 SGF29 RABEP2 MIR4721 LOC101928215 EIF3C EIF3CL IL27 NUPR1 LAT ATXN2L SULT1A1 MIR6862-2 ATP2A1-AS1 NPIP MIR6862-1 TUFM RRN3P2 NFATC2IP SPNS1 SULT1A2 APOBR
dgv2831n100	Chr.16:28812594 - 29032542 on Build GRCh38	Gain	ATP2A1-AS1 ATP2A1 CD19 RABEP2 MIR4721 SH2B1 MIR4517 TUFM LAT NFATC2IP ATXN2L SPNS1
esv3570454	Chr.16:28799004 - 29032129 on Build GRCh38	Gain	ATP2A1-AS1 ATP2A1 CD19 RABEP2 MIR4721 SH2B1 MIR4517 TUFM LAT NFATC2IP ATXN2L SPNS1
nsv571805	Chr.16:28824174 - 29032129 on Build GRCh38	Loss	ATP2A1-AS1 ATP2A1 CD19 RABEP2 MIR4721 SH2B1 MIR4517 TUFM LAT NFATC2IP ATXN2L SPNS1
dgv2830n100	Chr.16:28620264 - 29032542 on Build GRCh38	Gain	ATP2A1 CD19 NPIPB8 SH2B1 NPIPB9 MIR4517 LAT ATXN2L SULT1A1 MIR6862-2 ATP2A1-AS1 RABEP2 MIR4721 EIF3C TUFM NFATC2IP SPNS1

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