Hs05406169_cn

• Gene Symbol: RABEP2
• Assay Reference Genome Location: Chr.16:28917246 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 3

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

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