Hs02641613_cn

• Gene Symbol: RABEP2
• Assay Reference Genome Location: Chr.16:28905804 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: Overlaps Intron 10 - Exon 11

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

More Information

• Set Membership: Intragenic, 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