Hs03390860_cn

• Gene Symbol: ARHGEF4
• Assay Reference Genome Location: Chr.2:130837891 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	CFC1 POTEI TISP43 CYP4F30P ARHGEF4 GPR148 LOC440910 AMER3 POTEJ POTEE FAM168B PLEKHB2
dgv731e199	Chr.2:130678437 - 131300107 on Build GRCh38	Deletion	POTEI CYP4F30P ARHGEF4 GPR148 LOC440910 AMER3 POTEE FAM168B PLEKHB2
esv2670824	Chr.2:130625264 - 131605218 on Build GRCh38	Deletion	LINC01120 CYP4F30P TUBA3D ARHGEF4 LOC440910 AMER3 POTEJ FAM168B MIR4784 MZT2A POTEI POTEKP GPR148 WTH3DI CCDC74A POTEE LOC150776 NOC2LP2 PLEKHB2
nsv583136	Chr.2:130730100 - 130846832 on Build GRCh38	Loss	POTEI ARHGEF4 GPR148 AMER3
dgv4075n100	Chr.2:130720375 - 131521740 on Build GRCh38	Gain	LINC01120 TUBA3D ARHGEF4 LOC440910 AMER3 FAM168B MIR4784 MZT2A POTEI GPR148 WTH3DI POTEE LOC150776 NOC2LP2 PLEKHB2
esv3893337	Chr.2:130722838 - 131194387 on Build GRCh38	Loss	POTEI ARHGEF4 GPR148 AMER3 FAM168B PLEKHB2
dgv616e201	Chr.2:130674635 - 131312550 on Build GRCh38	Deletion	POTEI CYP4F30P ARHGEF4 GPR148 LOC440910 AMER3 POTEE FAM168B PLEKHB2
nsv583135	Chr.2:130724905 - 131194388 on Build GRCh38	Loss	POTEI ARHGEF4 GPR148 AMER3 FAM168B PLEKHB2
nsv524021	Chr.2:130724906 - 131553515 on Build GRCh38	Loss	LINC01120 TUBA3D ARHGEF4 LOC440910 AMER3 FAM168B MIR4784 MZT2A POTEI GPR148 WTH3DI CCDC74A POTEE LOC150776 NOC2LP2 PLEKHB2
esv2760576	Chr.2:130634172 - 131521752 on Build GRCh38	Gain+Loss	LINC01120 CYP4F30P TUBA3D ARHGEF4 LOC440910 AMER3 POTEJ FAM168B MIR4784 MZT2A POTEI GPR148 WTH3DI POTEE LOC150776 NOC2LP2 PLEKHB2
esv2759092	Chr.2:129589265 - 132440430 on Build GRCh38	Gain+Loss	TUBA3E PTPN18 GPR39 MIR4784 ZNF806 RAB6C POTEI FAR2P1 TISP43 MIR663B FAM201B CCDC74A MZT2B LINC01120 CYP4F30P TUBA3D SMPD4 POTEKP WTH3DI POTEF ANKRD30BL LOC101927924 LOC150776 PLEKHB2 CCDC115 ARHGEF4 IMP4 LOC100507460 FAM168B CFC1 C2orf27B CFC1B GPR148 LINC01087 NOC2LP2 MED15P9 LOC440910 C2orf27A AMER3 POTEJ NOC2LP1 CYP4F62P RAB6C-AS1 MZT2A LOC389033 FAR2P2 LOC107985778 LOC646743 CCDC74B POTEE
nsv523500	Chr.2:130835472 - 130853759 on Build GRCh38	Loss	POTEI ARHGEF4
nsv428403	Chr.2:129818076 - 130882067 on Build GRCh38	Loss	CCDC115 ARHGEF4 IMP4 TUBA3E PTPN18 RAB6C CFC1 POTEI FAR2P1 TISP43 CFC1B GPR148 MZT2B MED15P9 CYP4F30P AMER3 POTEJ NOC2LP1 SMPD4 CYP4F62P RAB6C-AS1 LOC389033 FAR2P2 LOC107985778 LOC646743 CCDC74B POTEF LOC101927924

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