Hs02624187_cn

• Gene Symbol: ACAP1
• Assay Reference Genome Location: Chr.17:7336783 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 Exon 1 - Intron 1

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

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