Hs06227789_cn

• Gene Symbol: ASAP1
• Assay Reference Genome Location: Chr.8:130083058 on build GRCh38
• Cytoband: 8q24.21

Target Gene Details

• Entrez Gene ID: 50807
• Gene Name: ArfGAP with SH3 domain, ankyrin repeat and PH domain 1
• Gene Aliases: AMAP1, CENTB4, DDEF1, PAG2, PAP, ZG14P
• Location: Chr.8:130052104-130443848 on Build GRCh38
• Assay Gene Location: Within Intron 32

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ASAP1	NM_001247996.1			NP_001234925.1
	NM_018482.3			NP_060952.2
	XM_005250925.1			XP_005250982.1
	XM_006716563.3			XP_006716626.1
	XM_006716564.1			XP_006716627.1
	XM_006716565.3			XP_006716628.1
	XM_006716566.1			XP_006716629.1
	XM_011517052.2			XP_011515354.1
	XM_011517053.1			XP_011515355.1
	XM_017013467.1			XP_016868956.1
	XM_017013468.1			XP_016868957.1
	XM_017013469.1			XP_016868958.1
	AB033075.1			BAA86563.1
	BC137135.1
	BX537768.1			CAD97831.1

Target Gene Details

• Entrez Gene ID: 100507117
• Gene Name: ASAP1 intronic transcript 2
• Gene Aliases: -
• Location: Chr.8:130082738-130084768 on Build GRCh38
• Assay Gene Location: Within Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ASAP1-IT2	NR_045385.1	1	1711
	AK054840.1	1	1289	BAB70813.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv612234	Chr.8:130026863 - 130318766 on Build GRCh38	Gain	ASAP1-IT1 ASAP1 ASAP1-IT2
nsv1018045	Chr.8:129851398 - 130110398 on Build GRCh38	Gain	FAM49B ASAP1 MIR5194 ASAP1-IT2
esv3576608	Chr.8:129860292 - 130116656 on Build GRCh38	Gain	FAM49B ASAP1 MIR5194 ASAP1-IT2
nsv612231	Chr.8:129855966 - 130120346 on Build GRCh38	Gain	FAM49B ASAP1 MIR5194 ASAP1-IT2
nsv465808	Chr.8:129951013 - 130106412 on Build GRCh38	Loss	FAM49B ASAP1 MIR5194 ASAP1-IT2
nsv524349	Chr.8:129856117 - 130120346 on Build GRCh38	Gain	FAM49B ASAP1 MIR5194 ASAP1-IT2

More Information

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

Panther Classification:

Molecular Function -

transporter

Gene Ontology Categories:

Process(es)

positive regulation of GTPase activity
cilium morphogenesis
negative regulation of dendritic spine development
cell-cell adhesion

Function(s)

GTPase activator activity
protein binding
phosphatidylinositol-4,5-bisphosphate binding
phosphatidylinositol-3,4,5-trisphosphate binding
metal ion binding
cadherin binding involved in cell-cell adhesion