Hs03447699_cn

• Gene Symbol: ARHGEF4
• Assay Reference Genome Location: Chr.2:130848707 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	CYP4F30P TISP43 ARHGEF4 GPR148 PLEKHB2 POTEE CFC1 AMER3 FAM168B POTEI POTEJ LOC440910
dgv731e199	Chr.2:130678437 - 131300107 on Build GRCh38	Deletion	CYP4F30P ARHGEF4 GPR148 PLEKHB2 POTEE AMER3 FAM168B POTEI LOC440910
esv2670824	Chr.2:130625264 - 131605218 on Build GRCh38	Deletion	TUBA3D POTEKP ARHGEF4 GPR148 CCDC74A AMER3 POTEJ CYP4F30P WTH3DI NOC2LP2 LINC01120 PLEKHB2 MZT2A POTEE MIR4784 FAM168B POTEI LOC150776 LOC440910
dgv4075n100	Chr.2:130720375 - 131521740 on Build GRCh38	Gain	TUBA3D ARHGEF4 GPR148 AMER3 WTH3DI NOC2LP2 LINC01120 PLEKHB2 MZT2A POTEE MIR4784 FAM168B POTEI LOC150776 LOC440910
nsv2925	Chr.2:130841107 - 130887218 on Build GRCh38	Deletion	ARHGEF4 POTEI
nsv517274	Chr.2:130845653 - 130865593 on Build GRCh38	Loss	ARHGEF4 POTEI
esv3893337	Chr.2:130722838 - 131194387 on Build GRCh38	Loss	ARHGEF4 GPR148 PLEKHB2 AMER3 FAM168B POTEI
dgv616e201	Chr.2:130674635 - 131312550 on Build GRCh38	Deletion	CYP4F30P ARHGEF4 GPR148 PLEKHB2 POTEE AMER3 FAM168B POTEI LOC440910
nsv583135	Chr.2:130724905 - 131194388 on Build GRCh38	Loss	ARHGEF4 GPR148 PLEKHB2 AMER3 FAM168B POTEI
nsv524021	Chr.2:130724906 - 131553515 on Build GRCh38	Loss	TUBA3D ARHGEF4 GPR148 CCDC74A AMER3 WTH3DI NOC2LP2 LINC01120 PLEKHB2 MZT2A POTEE MIR4784 FAM168B POTEI LOC150776 LOC440910
esv2760576	Chr.2:130634172 - 131521752 on Build GRCh38	Gain+Loss	TUBA3D ARHGEF4 GPR148 AMER3 POTEJ CYP4F30P WTH3DI NOC2LP2 LINC01120 PLEKHB2 MZT2A POTEE MIR4784 FAM168B POTEI LOC150776 LOC440910
esv2759092	Chr.2:129589265 - 132440430 on Build GRCh38	Gain+Loss	C2orf27B ARHGEF4 GPR148 ZNF806 FAM201B CYP4F30P RAB6C POTEI CYP4F62P FAR2P2 FAR2P1 TUBA3E LOC107985778 WTH3DI IMP4 MZT2A ANKRD30BL MED15P9 GPR39 CCDC115 LOC389033 POTEF TUBA3D AMER3 TISP43 LINC01120 MZT2B POTEE LOC646743 CCDC74B FAM168B LINC01087 POTEKP NOC2LP1 PTPN18 SMPD4 LOC101927924 LOC100507460 MIR663B CCDC74A POTEJ C2orf27A RAB6C-AS1 NOC2LP2 CFC1B PLEKHB2 MIR4784 CFC1 LOC150776 LOC440910
nsv523500	Chr.2:130835472 - 130853759 on Build GRCh38	Loss	ARHGEF4 POTEI
nsv428403	Chr.2:129818076 - 130882067 on Build GRCh38	Loss	ARHGEF4 GPR148 AMER3 CYP4F30P TISP43 RAB6C MZT2B LOC646743 CCDC74B POTEI CYP4F62P FAR2P2 NOC2LP1 FAR2P1 PTPN18 SMPD4 LOC101927924 POTEJ TUBA3E RAB6C-AS1 LOC107985778 CFC1B IMP4 MED15P9 CFC1 CCDC115 LOC389033 POTEF

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