Hs07122653_cn

• Gene Symbol: ARHGEF1
• Assay Reference Genome Location: Chr.19:41886802 on build GRCh38
• Cytoband: 19q13.2

Target Gene Details

• Entrez Gene ID: 9138
• Gene Name: Rho guanine nucleotide exchange factor 1
• Gene Aliases: GEF1, LBCL2, LSC, P115-RHOGEF, SUB1.5
• Location: Chr.19:41883200-41907454 on Build GRCh38
• Assay Gene Location: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ARHGEF1	NM_004706.3			NP_004697.2
	NM_198977.1			NP_945328.1
	NM_199002.1			NP_945353.1
	XM_005259386.4			XP_005259443.1
	XM_005259390.4			XP_005259447.1
	XM_011527468.2			XP_011525770.1
	BC011726.2			AAH11726.1
	BC034013.1			AAH34013.2
	BC067262.1			AAH67262.1
	BM147791.1
	BQ944132.1
	U64105.1			AAB17896.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv520239	Chr.19:41853387 - 42426852 on Build GRCh38	Loss	CD79A PAFAH1B3 CNFN RABAC1 TMEM145 LIPE-AS1 LOC101930071 ERF MIR8077 DEDD2 ZNF574 RPS19 ARHGEF1 CIC PRR19 MIR6797 LOC390937 GRIK5 ZNF526 LOC100505585 POU2F2 LIPE MEGF8 LOC100505622 GSK3A ATP1A3 MIR4323
nsv522854	Chr.19:41613927 - 42426852 on Build GRCh38	Gain	CD79A PAFAH1B3 CNFN RABAC1 CEACAM5 TMEM145 DMRTC2 CEACAM6 LIPE-AS1 LOC101930071 ERF MIR8077 DEDD2 ZNF574 RPS19 ARHGEF1 CIC LYPD4 PRR19 CEACAM4 MIR6797 LOC390937 GRIK5 ZNF526 LOC100505585 POU2F2 LIPE MEGF8 CEACAM7 LOC100505622 GSK3A ATP1A3 MIR4323 CEACAM3

More Information

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

Panther Classification:

Molecular Function -

guanyl-nucleotide exchange factor

Gene Ontology Categories:

Process(es)

Rho protein signal transduction
cell proliferation
regulation of Rho protein signal transduction
positive regulation of GTPase activity
negative regulation of axonogenesis

Function(s)

Rho guanyl-nucleotide exchange factor activity
GTPase activator activity
protein binding
poly(A) RNA binding