Hs04229743_cn

• Gene Symbol: ARHGEF4
• Assay Reference Genome Location: Chr.2:130840904 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 POTEJ LOC440910 POTEE CYP4F30P POTEI FAM168B TISP43 PLEKHB2 AMER3 GPR148 ARHGEF4
dgv731e199	Chr.2:130678437 - 131300107 on Build GRCh38	Deletion	LOC440910 POTEE CYP4F30P POTEI FAM168B PLEKHB2 AMER3 GPR148 ARHGEF4
esv2670824	Chr.2:130625264 - 131605218 on Build GRCh38	Deletion	MIR4784 POTEJ LOC150776 POTEE CYP4F30P LINC01120 TUBA3D AMER3 GPR148 CCDC74A WTH3DI NOC2LP2 LOC440910 MZT2A POTEI POTEKP FAM168B PLEKHB2 ARHGEF4
nsv583136	Chr.2:130730100 - 130846832 on Build GRCh38	Loss	POTEI AMER3 GPR148 ARHGEF4
dgv4075n100	Chr.2:130720375 - 131521740 on Build GRCh38	Gain	MIR4784 LOC150776 POTEE LINC01120 TUBA3D AMER3 GPR148 WTH3DI NOC2LP2 LOC440910 MZT2A POTEI FAM168B PLEKHB2 ARHGEF4
esv3893337	Chr.2:130722838 - 131194387 on Build GRCh38	Loss	POTEI FAM168B PLEKHB2 AMER3 GPR148 ARHGEF4
dgv616e201	Chr.2:130674635 - 131312550 on Build GRCh38	Deletion	LOC440910 POTEE CYP4F30P POTEI FAM168B PLEKHB2 AMER3 GPR148 ARHGEF4
nsv583135	Chr.2:130724905 - 131194388 on Build GRCh38	Loss	POTEI FAM168B PLEKHB2 AMER3 GPR148 ARHGEF4
nsv524021	Chr.2:130724906 - 131553515 on Build GRCh38	Loss	MIR4784 LOC150776 POTEE LINC01120 TUBA3D AMER3 GPR148 CCDC74A WTH3DI NOC2LP2 LOC440910 MZT2A POTEI FAM168B PLEKHB2 ARHGEF4
esv2760576	Chr.2:130634172 - 131521752 on Build GRCh38	Gain+Loss	MIR4784 POTEJ LOC150776 POTEE CYP4F30P LINC01120 TUBA3D AMER3 GPR148 WTH3DI NOC2LP2 LOC440910 MZT2A POTEI FAM168B PLEKHB2 ARHGEF4
esv2759092	Chr.2:129589265 - 132440430 on Build GRCh38	Gain+Loss	POTEJ ZNF806 SMPD4 LINC01087 TUBA3D AMER3 C2orf27B CCDC74A LOC440910 MZT2A LOC101927924 LOC646743 POTEF FAM168B PLEKHB2 IMP4 C2orf27A CYP4F30P LOC389033 CFC1B NOC2LP2 RAB6C GPR39 ANKRD30BL FAR2P1 CYP4F62P CCDC115 MED15P9 TUBA3E GPR148 POTEI POTEKP RAB6C-AS1 TISP43 MIR663B ARHGEF4 FAR2P2 CFC1 MIR4784 LOC150776 POTEE MZT2B LINC01120 WTH3DI LOC100507460 PTPN18 LOC107985778 CCDC74B FAM201B NOC2LP1
nsv523500	Chr.2:130835472 - 130853759 on Build GRCh38	Loss	POTEI ARHGEF4
nsv428403	Chr.2:129818076 - 130882067 on Build GRCh38	Loss	POTEJ CCDC115 MED15P9 SMPD4 TUBA3E AMER3 GPR148 LOC101927924 POTEI LOC646743 RAB6C-AS1 POTEF TISP43 IMP4 ARHGEF4 FAR2P2 CFC1 MZT2B CYP4F30P LOC389033 CFC1B RAB6C PTPN18 LOC107985778 CCDC74B FAR2P1 CYP4F62P NOC2LP1

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