Hs05869439_cn

• Gene Symbol: AGFG1
• Assay Reference Genome Location: Chr.2:227478070 on build GRCh38
• Cytoband: 2q36.3

Target Gene Details

• Entrez Gene ID: 3267
• Gene Name: ArfGAP with FG repeats 1
• Gene Aliases: HRB, RAB, RIP
• Location: Chr.2:227472169-227561222 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
AGFG1	NM_001135187.1			NP_001128659.1
	NM_001135188.1			NP_001128660.1
	NM_001135189.1			NP_001128661.1
	NM_004504.4			NP_004495.2
	XM_005246516.3			XP_005246573.1
	XM_006712478.3			XP_006712541.1
	XM_006712479.3			XP_006712542.1
	XM_006712480.3			XP_006712543.1
	AK097451.1
	BC030592.2			AAH30592.1
	BC096272.3			AAH96272.1
	BC096273.3			AAH96273.1
	BC096274.1			AAH96274.1
	BC096275.3			AAH96275.1
	DB456989.1
	KU178123.1
	KU178124.1
	KU178125.1
	KU178126.1
	X89478.1			CAA61667.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv834560	Chr.2:227476555 - 227644372 on Build GRCh38	Loss	LOC729968 C2orf83 AGFG1

More Information

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

Gene Ontology Categories:

Process(es)

acrosome assembly
mRNA export from nucleus
multicellular organism development
spermatid nucleus differentiation
positive regulation of GTPase activity
intermediate filament organization

Function(s)

DNA binding
RNA binding
GTPase activator activity
protein binding
metal ion binding