Hs02352170_cn

• Gene Symbol: ACAP1
• Assay Reference Genome Location: Chr.17:7337328 on build GRCh38
• Cytoband: 17p13.1

Target Gene Details

• Entrez Gene ID: 9744
• Gene Name: ArfGAP with coiled-coil, ankyrin repeat and PH domains 1
• Gene Aliases: CENTB1
• Location: Chr.17:7336506-7354944 on Build GRCh38
• Assay Gene Location: Overlaps Intron 1 - Exon 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ACAP1	NM_014716.3			NP_055531.1
	AA356620.1
	BC018543.1			AAH18543.1
	BT009788.1			AAP88790.1
	D30758.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
esv2422288	Chr.17:6789933 - 7646709 on Build GRCh38	Deletion	SNORA67 TMEM256-PLSCR3 NEURL4 CTDNEP1 ASGR2 TMEM102 SENP3 TMEM95 LOC100996842 ACAP1 CD68 SLC16A13 TNFSF13 CHRNB1 FBXO39 TMEM256 ZBTB4 TEKT1 EIF5A FGF11 ASGR1 GABARAP SOX15 ATP1B2 SENP3-EIF4A1 CLDN7 MIR324 DLG4 ELP5 GPS2 MPDU1 ALOX12 MIR497HG PLSCR3 SLC2A4 SNORD10 TNFSF12 CLEC10A C17orf49 TNK1 PHF23 ALOX12P2 ACADVL KCTD11 YBX2 SLC16A11 NLGN2 FXR2 SLC35G6 SAT2 LOC107983988 SHBG TNFSF12-TNFSF13 POLR2A C17orf74 RNASEK RNASEK-C17orf49 EIF4A1 MIR195 DVL2 SPEM1 SNORA48 ALOX12-AS1 BCL6B MIR497
nsv509650	Chr.17:7299079 - 7338714 on Build GRCh38	Insertion	ACAP1 NEURL4 GPS2 EIF5A
nsv952118	Chr.17:7174582 - 7456981 on Build GRCh38	Deletion	TMEM256-PLSCR3 NEURL4 CTDNEP1 TMEM102 TMEM95 TNK1 PHF23 ACADVL ACAP1 KCTD11 YBX2 CHRNB1 TMEM256 NLGN2 LOC107983988 EIF5A FGF11 ASGR1 C17orf74 GABARAP CLDN7 MIR324 DVL2 DLG4 SPEM1 ELP5 GPS2 PLSCR3 SLC2A4
nsv574322	Chr.17:7010333 - 7689462 on Build GRCh38	Loss	SNORA67 TMEM256-PLSCR3 NEURL4 CTDNEP1 ASGR2 TMEM102 SENP3 TMEM95 LOC100996842 TP53 ACAP1 CD68 SLC16A13 TNFSF13 CHRNB1 TMEM256 ZBTB4 EIF5A FGF11 ASGR1 WRAP53 GABARAP SOX15 ATP1B2 SENP3-EIF4A1 CLDN7 MIR324 DLG4 ELP5 GPS2 MPDU1 ALOX12 MIR497HG PLSCR3 SLC2A4 SNORD10 TNFSF12 CLEC10A C17orf49 TNK1 PHF23 ACADVL KCTD11 YBX2 SLC16A11 NLGN2 FXR2 SLC35G6 SAT2 LOC107983988 SHBG TNFSF12-TNFSF13 POLR2A C17orf74 RNASEK RNASEK-C17orf49 EIF4A1 MIR195 DVL2 SPEM1 SNORA48 ALOX12-AS1 BCL6B MIR497

More Information

• Set Membership: Intragenic, Non-exonic, DGV Variation

Gene Ontology Categories:

Process(es)

protein transport
positive regulation of GTPase activity

Function(s)

GTPase activator activity
protein binding
metal ion binding