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

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