Hs04579027_cn

• Gene Symbol: AGAP1
• Assay Reference Genome Location: Chr.2:235507099 on build GRCh38
• Cytoband: 2q37.2

Target Gene Details

• Entrez Gene ID: 116987
• Gene Name: ArfGAP with GTPase domain, ankyrin repeat and PH domain 1
• Gene Aliases: AGAP-1, CENTG2, GGAP1, cnt-g2
• Location: Chr.2:235494089-236131800 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
AGAP1	NM_001037131.2			NP_001032208.1
	NM_001244888.1			NP_001231817.1
	NM_014914.4			NP_055729.2
	XM_005246059.4			XP_005246116.1
	XM_006712234.3			XP_006712297.1
	XM_006712235.3			XP_006712298.1
	AB029022.1
	AF413078.1			AAL04172.1
	AY033765.1			AAK56506.1
	BC060814.1			AAH60814.1
	BC140856.1
	BC167153.1
	BC167157.1
	KJ534764.1

Target Gene Details

• Entrez Gene ID: 100506749
• Gene Name: AGAP1 intronic transcript 1
• Gene Aliases: -
• Location: Chr.2:235505751-235507566 on Build GRCh38
• Assay Gene Location: Within Exon 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
AGAP1-IT1	NR_131900.1	2	197
	BX111890.1	2	197
	CK820087.1	1	117

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv527654	Chr.2:234661964 - 235549244 on Build GRCh38	Gain	SH3BP4 AGAP1 LOC101927896 LINC01173 AGAP1-IT1
nsv834575	Chr.2:235384329 - 235543362 on Build GRCh38	Gain	AGAP1 AGAP1-IT1
esv3575341	Chr.2:235300440 - 235588493 on Build GRCh38	Gain	AGAP1 AGAP1-IT1
dgv4191n100	Chr.2:235085672 - 235523486 on Build GRCh38	Gain	AGAP1 AGAP1-IT1
nsv999839	Chr.2:234676935 - 235726730 on Build GRCh38	Gain	SH3BP4 AGAP1 LOC101927896 LINC01173 AGAP1-IT1

More Information

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

Gene Ontology Categories:

Process(es)

small GTPase mediated signal transduction
protein transport
positive regulation of GTPase activity

Function(s)

GTPase activator activity
GTP binding
phospholipid binding
metal ion binding