Hs02196721_cn

• Gene Symbol: RABEP2
• Assay Reference Genome Location: Chr.16:28914758 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 3 - Exon 4

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	TUFM MIR4517 RABEP2 ATP2A1-AS1 LAT ATP2A1 SH2B1 MIR4721 NFATC2IP SPNS1 CD19 ATXN2L
esv3892826	Chr.16:28814728 - 29032129 on Build GRCh38	Gain+Loss	TUFM MIR4517 RABEP2 ATP2A1-AS1 LAT ATP2A1 SH2B1 MIR4721 NFATC2IP SPNS1 CD19 ATXN2L
esv2758640	Chr.16:28163817 - 29139232 on Build GRCh38	Gain+Loss	SULT1A1 ATP2A1-AS1 IL27 SGF29 EIF3CL LOC101928215 SPNS1 CD19 APOBR TUFM LAT SBK1 SH2B1 MIR4721 SULT1A2 ATXN2L MIR4517 NPIP XPO6 NFATC2IP RRN3P2 EIF3C NUPR1 NPIPB9 RABEP2 CLN3 ATP2A1 NPIPB8 NPIPB6 MIR6862-1 MIR6862-2
nsv519100	Chr.16:28826194 - 29032129 on Build GRCh38	Gain	TUFM MIR4517 RABEP2 ATP2A1-AS1 LAT ATP2A1 SH2B1 MIR4721 NFATC2IP SPNS1 CD19 ATXN2L
nsv513449	Chr.16:28914714 - 28915294 on Build GRCh38	Insertion	RABEP2
nsv1059555	Chr.16:28373144 - 29195838 on Build GRCh38	Gain	SULT1A1 ATP2A1-AS1 IL27 SGF29 EIF3CL LOC101928215 SPNS1 CD19 APOBR TUFM LAT SH2B1 MIR4721 SULT1A2 ATXN2L MIR4517 NPIP LOC107984832 NFATC2IP RRN3P2 EIF3C NUPR1 NPIPB9 RABEP2 CLN3 ATP2A1 NPIPB8 MIR6862-1 MIR6862-2
dgv2831n100	Chr.16:28812594 - 29032542 on Build GRCh38	Gain	TUFM MIR4517 RABEP2 ATP2A1-AS1 LAT ATP2A1 SH2B1 MIR4721 NFATC2IP SPNS1 CD19 ATXN2L
esv3570454	Chr.16:28799004 - 29032129 on Build GRCh38	Gain	TUFM MIR4517 RABEP2 ATP2A1-AS1 LAT ATP2A1 SH2B1 MIR4721 NFATC2IP SPNS1 CD19 ATXN2L
nsv571805	Chr.16:28824174 - 29032129 on Build GRCh38	Loss	TUFM MIR4517 RABEP2 ATP2A1-AS1 LAT ATP2A1 SH2B1 MIR4721 NFATC2IP SPNS1 CD19 ATXN2L
dgv2830n100	Chr.16:28620264 - 29032542 on Build GRCh38	Gain	MIR4517 SULT1A1 ATP2A1-AS1 NFATC2IP EIF3C SPNS1 CD19 TUFM NPIPB9 RABEP2 LAT ATP2A1 SH2B1 MIR4721 NPIPB8 MIR6862-2 ATXN2L

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