Hs05401468_cn

• Gene Symbol: RABEP2
• Assay Reference Genome Location: Chr.16:28924838 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 1

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

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