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	LAT ATP2A1 SH2B1 SPNS1 ATXN2L RABEP2 NFATC2IP MIR4517 MIR4721 CD19 TUFM ATP2A1-AS1
esv3892826	Chr.16:28814728 - 29032129 on Build GRCh38	Gain+Loss	LAT ATP2A1 SH2B1 SPNS1 ATXN2L RABEP2 NFATC2IP MIR4517 MIR4721 CD19 TUFM ATP2A1-AS1
esv3638349	Chr.16:28860611 - 28907894 on Build GRCh38	Gain	ATP2A1 SH2B1 RABEP2 ATP2A1-AS1
esv2758640	Chr.16:28163817 - 29139232 on Build GRCh38	Gain+Loss	EIF3C LOC101928215 SH2B1 IL27 ATXN2L RABEP2 MIR4517 NUPR1 CD19 CLN3 SGF29 SULT1A2 TUFM ATP2A1-AS1 RRN3P2 LAT ATP2A1 NPIP MIR6862-2 SULT1A1 NFATC2IP NPIPB8 MIR4721 APOBR SBK1 SPNS1 EIF3CL NPIPB9 NPIPB6 MIR6862-1 XPO6
nsv519100	Chr.16:28826194 - 29032129 on Build GRCh38	Gain	LAT ATP2A1 SH2B1 SPNS1 ATXN2L RABEP2 NFATC2IP MIR4517 MIR4721 CD19 TUFM ATP2A1-AS1
nsv1059555	Chr.16:28373144 - 29195838 on Build GRCh38	Gain	EIF3C LOC101928215 SH2B1 IL27 ATXN2L RABEP2 MIR4517 NUPR1 CD19 CLN3 SGF29 SULT1A2 LOC107984832 TUFM ATP2A1-AS1 RRN3P2 LAT ATP2A1 NPIP MIR6862-2 SULT1A1 NFATC2IP NPIPB8 MIR4721 APOBR SPNS1 EIF3CL NPIPB9 MIR6862-1
dgv2831n100	Chr.16:28812594 - 29032542 on Build GRCh38	Gain	LAT ATP2A1 SH2B1 SPNS1 ATXN2L RABEP2 NFATC2IP MIR4517 MIR4721 CD19 TUFM ATP2A1-AS1
esv3570454	Chr.16:28799004 - 29032129 on Build GRCh38	Gain	LAT ATP2A1 SH2B1 SPNS1 ATXN2L RABEP2 NFATC2IP MIR4517 MIR4721 CD19 TUFM ATP2A1-AS1
nsv571805	Chr.16:28824174 - 29032129 on Build GRCh38	Loss	LAT ATP2A1 SH2B1 SPNS1 ATXN2L RABEP2 NFATC2IP MIR4517 MIR4721 CD19 TUFM ATP2A1-AS1
dgv2830n100	Chr.16:28620264 - 29032542 on Build GRCh38	Gain	EIF3C LAT ATP2A1 SH2B1 MIR6862-2 SULT1A1 ATXN2L RABEP2 NFATC2IP NPIPB8 MIR4517 MIR4721 CD19 SPNS1 NPIPB9 TUFM ATP2A1-AS1

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