Hs03417994_cn

• Gene Symbol: ARHGEF4
• Assay Reference Genome Location: Chr.2:130844541 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	FAM168B AMER3 ARHGEF4 POTEE CYP4F30P PLEKHB2 CFC1 POTEJ POTEI GPR148 TISP43 LOC440910
dgv731e199	Chr.2:130678437 - 131300107 on Build GRCh38	Deletion	FAM168B AMER3 ARHGEF4 POTEE CYP4F30P PLEKHB2 POTEI GPR148 LOC440910
esv2670824	Chr.2:130625264 - 131605218 on Build GRCh38	Deletion	TUBA3D CYP4F30P LOC150776 NOC2LP2 POTEJ MZT2A POTEI CCDC74A WTH3DI FAM168B AMER3 ARHGEF4 POTEE PLEKHB2 LINC01120 GPR148 MIR4784 LOC440910 POTEKP
nsv583136	Chr.2:130730100 - 130846832 on Build GRCh38	Loss	AMER3 ARHGEF4 POTEI GPR148
nsv1014723	Chr.2:130720375 - 131379551 on Build GRCh38	Loss	FAM168B AMER3 ARHGEF4 POTEE PLEKHB2 POTEI GPR148 WTH3DI LOC440910
nsv2925	Chr.2:130841107 - 130887218 on Build GRCh38	Deletion	ARHGEF4 POTEI
esv3893337	Chr.2:130722838 - 131194387 on Build GRCh38	Loss	FAM168B AMER3 ARHGEF4 PLEKHB2 POTEI GPR148
dgv616e201	Chr.2:130674635 - 131312550 on Build GRCh38	Deletion	FAM168B AMER3 ARHGEF4 POTEE CYP4F30P PLEKHB2 POTEI GPR148 LOC440910
nsv583135	Chr.2:130724905 - 131194388 on Build GRCh38	Loss	FAM168B AMER3 ARHGEF4 PLEKHB2 POTEI GPR148
nsv524021	Chr.2:130724906 - 131553515 on Build GRCh38	Loss	TUBA3D LOC150776 NOC2LP2 MZT2A POTEI CCDC74A WTH3DI FAM168B AMER3 ARHGEF4 POTEE PLEKHB2 LINC01120 GPR148 MIR4784 LOC440910
esv2760576	Chr.2:130634172 - 131521752 on Build GRCh38	Gain+Loss	TUBA3D CYP4F30P LOC150776 NOC2LP2 POTEJ MZT2A POTEI WTH3DI FAM168B AMER3 ARHGEF4 POTEE PLEKHB2 LINC01120 GPR148 MIR4784 LOC440910
esv2759092	Chr.2:129589265 - 132440430 on Build GRCh38	Gain+Loss	LOC150776 FAM201B NOC2LP1 ANKRD30BL LOC100507460 CCDC74B TISP43 WTH3DI TUBA3D POTEJ C2orf27B LOC107985778 CCDC74A LOC101927924 PTPN18 LINC01120 MZT2B TUBA3E CYP4F30P MZT2A POTEI ZNF806 MIR663B MED15P9 FAM168B AMER3 ARHGEF4 IMP4 CFC1B LINC01087 PLEKHB2 CFC1 GPR148 RAB6C-AS1 MIR4784 SMPD4 CCDC115 LOC389033 LOC440910 LOC646743 NOC2LP2 FAR2P1 FAR2P2 POTEE POTEF RAB6C C2orf27A GPR39 CYP4F62P POTEKP
nsv428403	Chr.2:129818076 - 130882067 on Build GRCh38	Loss	TUBA3E CYP4F30P NOC2LP1 POTEI CCDC74B TISP43 MED15P9 AMER3 ARHGEF4 IMP4 CFC1B CFC1 GPR148 RAB6C-AS1 SMPD4 CCDC115 LOC389033 LOC646743 POTEJ LOC107985778 FAR2P1 FAR2P2 LOC101927924 POTEF PTPN18 RAB6C MZT2B CYP4F62P
nsv523500	Chr.2:130835472 - 130853759 on Build GRCh38	Loss	ARHGEF4 POTEI

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