Hs03396389_cn

• Gene Symbol: ARHGEF4
• Assay Reference Genome Location: Chr.2:130836991 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: Overlaps Exon 1 - 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

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

More Information

• Set Membership: Intragenic, 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