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

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