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	MIR4517 LAT MIR4721 SPNS1 SH2B1 ATP2A1 NFATC2IP CD19 ATP2A1-AS1 RABEP2 TUFM ATXN2L
esv3892826	Chr.16:28814728 - 29032129 on Build GRCh38	Gain+Loss	MIR4517 LAT MIR4721 SPNS1 SH2B1 ATP2A1 NFATC2IP CD19 ATP2A1-AS1 RABEP2 TUFM ATXN2L
esv2758640	Chr.16:28163817 - 29139232 on Build GRCh38	Gain+Loss	MIR4517 SULT1A2 NPIPB6 IL27 SH2B1 ATP2A1-AS1 RABEP2 NUPR1 LAT NPIPB8 CD19 SGF29 MIR6862-2 ATXN2L SULT1A1 MIR4721 EIF3C ATP2A1 SBK1 NFATC2IP XPO6 CLN3 LOC101928215 NPIP MIR6862-1 EIF3CL NPIPB9 SPNS1 RRN3P2 APOBR TUFM
nsv513449	Chr.16:28914714 - 28915294 on Build GRCh38	Insertion	RABEP2
nsv518648	Chr.16:28826194 - 29032129 on Build GRCh38	Loss	MIR4517 LAT MIR4721 SPNS1 SH2B1 ATP2A1 NFATC2IP CD19 ATP2A1-AS1 RABEP2 TUFM ATXN2L
nsv1059555	Chr.16:28373144 - 29195838 on Build GRCh38	Gain	MIR4517 SULT1A2 IL27 SH2B1 ATP2A1-AS1 RABEP2 NUPR1 LAT NPIPB8 CD19 SGF29 MIR6862-2 ATXN2L SULT1A1 MIR4721 EIF3C ATP2A1 NFATC2IP CLN3 LOC101928215 NPIP MIR6862-1 EIF3CL LOC107984832 NPIPB9 SPNS1 RRN3P2 APOBR TUFM
dgv2831n100	Chr.16:28812594 - 29032542 on Build GRCh38	Gain	MIR4517 LAT MIR4721 SPNS1 SH2B1 ATP2A1 NFATC2IP CD19 ATP2A1-AS1 RABEP2 TUFM ATXN2L
esv3570454	Chr.16:28799004 - 29032129 on Build GRCh38	Gain	MIR4517 LAT MIR4721 SPNS1 SH2B1 ATP2A1 NFATC2IP CD19 ATP2A1-AS1 RABEP2 TUFM ATXN2L
nsv571805	Chr.16:28824174 - 29032129 on Build GRCh38	Loss	MIR4517 LAT MIR4721 SPNS1 SH2B1 ATP2A1 NFATC2IP CD19 ATP2A1-AS1 RABEP2 TUFM ATXN2L
dgv2830n100	Chr.16:28620264 - 29032542 on Build GRCh38	Gain	SULT1A1 MIR4517 MIR4721 EIF3C SH2B1 ATP2A1 NFATC2IP ATP2A1-AS1 RABEP2 LAT NPIPB9 SPNS1 NPIPB8 CD19 MIR6862-2 TUFM 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