Hs03418697_cn

• Gene Symbol: ARHGEF4
• Assay Reference Genome Location: Chr.2:130845182 on build GRCh38
• Cytoband: 2q21.1

Target Gene Details

• Entrez Gene ID: 50649
• Gene Name: Rho guanine nucleotide exchange factor 4
• Gene Aliases: ASEF, ASEF1, GEF4, STM6
• Location: Chr.2:130836916-131047253 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ARHGEF4	XM_005263681.1			XP_005263738.1
	XM_005263685.3			XP_005263742.1
	XM_011511274.2			XP_011509576.1
	XM_017004231.1			XP_016859720.1
	AK127124.1

Target Gene Details

• Entrez Gene ID: 653269
• Gene Name: POTE ankyrin domain family member I
• Gene Aliases: POTE2beta
• Location: Chr.2:130462245-131626428 on Build GRCh38
• Assay Gene Location:

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
POTEI

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
dgv4074n100	Chr.2:130550793 - 131291209 on Build GRCh38	Gain	AMER3 LOC440910 ARHGEF4 TISP43 POTEI CYP4F30P GPR148 POTEJ PLEKHB2 FAM168B CFC1 POTEE
dgv731e199	Chr.2:130678437 - 131300107 on Build GRCh38	Deletion	AMER3 LOC440910 ARHGEF4 POTEI CYP4F30P GPR148 PLEKHB2 FAM168B POTEE
esv2670824	Chr.2:130625264 - 131605218 on Build GRCh38	Deletion	TUBA3D LINC01120 POTEJ PLEKHB2 WTH3DI POTEKP MIR4784 AMER3 LOC150776 LOC440910 ARHGEF4 POTEI NOC2LP2 CYP4F30P GPR148 MZT2A CCDC74A FAM168B POTEE
nsv583136	Chr.2:130730100 - 130846832 on Build GRCh38	Loss	AMER3 ARHGEF4 POTEI GPR148
dgv4075n100	Chr.2:130720375 - 131521740 on Build GRCh38	Gain	TUBA3D LINC01120 PLEKHB2 WTH3DI MIR4784 AMER3 LOC150776 LOC440910 ARHGEF4 POTEI NOC2LP2 GPR148 MZT2A FAM168B POTEE
nsv2925	Chr.2:130841107 - 130887218 on Build GRCh38	Deletion	ARHGEF4 POTEI
esv3893337	Chr.2:130722838 - 131194387 on Build GRCh38	Loss	AMER3 ARHGEF4 POTEI GPR148 PLEKHB2 FAM168B
dgv616e201	Chr.2:130674635 - 131312550 on Build GRCh38	Deletion	AMER3 LOC440910 ARHGEF4 POTEI CYP4F30P GPR148 PLEKHB2 FAM168B POTEE
nsv583135	Chr.2:130724905 - 131194388 on Build GRCh38	Loss	AMER3 ARHGEF4 POTEI GPR148 PLEKHB2 FAM168B
nsv524021	Chr.2:130724906 - 131553515 on Build GRCh38	Loss	TUBA3D LINC01120 PLEKHB2 WTH3DI MIR4784 AMER3 LOC150776 LOC440910 ARHGEF4 POTEI NOC2LP2 GPR148 MZT2A CCDC74A FAM168B POTEE
esv2760576	Chr.2:130634172 - 131521752 on Build GRCh38	Gain+Loss	TUBA3D LINC01120 POTEJ PLEKHB2 WTH3DI MIR4784 AMER3 LOC150776 LOC440910 ARHGEF4 POTEI NOC2LP2 CYP4F30P GPR148 MZT2A FAM168B POTEE
esv2759092	Chr.2:129589265 - 132440430 on Build GRCh38	Gain+Loss	CFC1B TUBA3D MED15P9 C2orf27A LINC01120 C2orf27B LOC440910 ARHGEF4 GPR148 FAR2P1 FAR2P2 NOC2LP1 LOC101927924 IMP4 FAM168B CCDC115 POTEE CYP4F62P SMPD4 MIR663B POTEKP CCDC74B CYP4F30P LOC100507460 LOC107985778 ANKRD30BL PTPN18 WTH3DI GPR39 LOC646743 AMER3 LOC150776 POTEI NOC2LP2 LOC389033 MZT2A RAB6C-AS1 POTEF TISP43 TUBA3E POTEJ PLEKHB2 FAM201B ZNF806 LINC01087 MIR4784 MZT2B CCDC74A RAB6C CFC1
nsv523500	Chr.2:130835472 - 130853759 on Build GRCh38	Loss	ARHGEF4 POTEI
nsv428403	Chr.2:129818076 - 130882067 on Build GRCh38	Loss	LOC107985778 CFC1B MED15P9 PTPN18 LOC646743 AMER3 ARHGEF4 POTEI GPR148 FAR2P1 LOC389033 FAR2P2 NOC2LP1 LOC101927924 IMP4 CCDC115 RAB6C-AS1 POTEF CYP4F62P TISP43 TUBA3E POTEJ SMPD4 MZT2B CCDC74B CYP4F30P RAB6C CFC1

More Information

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

Panther Classification:

Molecular Function -

G-protein modulator, protein-binding activity modulator, guanyl-nucleotide exchange factor

Gene Ontology Categories:

Process(es)

lamellipodium assembly
regulation of Rho protein signal transduction
intracellular signal transduction
positive regulation of apoptotic process
positive regulation of GTPase activity
filopodium assembly
regulation of small GTPase mediated signal transduction

Function(s)

guanyl-nucleotide exchange factor activity
Rho guanyl-nucleotide exchange factor activity
protein binding
protein domain specific binding
Rac guanyl-nucleotide exchange factor activity