Hs07076372_cn

• Gene Symbol: PLEKHG3
• Assay Reference Genome Location: Chr.14:64706851 on build GRCh38
• Cytoband: 14q23.3

Target Gene Details

• Entrez Gene ID: 26030
• Gene Name: pleckstrin homology and RhoGEF domain containing G3
• Gene Aliases: ARHGEF43, KIAA0599
• Location: Chr.14:64704129-64744346 on Build GRCh38
• Assay Gene Location: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PLEKHG3	NM_001308147.1			NP_001295076.1
	XM_011536624.2			XP_011534926.1
	XM_011536625.2			XP_011534927.1
	XM_011536628.2			XP_011534930.1
	XM_011536629.2			XP_011534931.1
	XM_017021154.1			XP_016876643.1
	BC129952.1
	BC129953.1
	BX248779.1			CAD66586.1
	CN284264.1
	HY057390.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv1309	Chr.14:64681609 - 64714932 on Build GRCh38	Insertion	PLEKHG3
nsv1049097	Chr.14:64561035 - 64735300 on Build GRCh38	Gain	PPP1R36 PLEKHG3
esv2748779	Chr.14:63663324 - 66595809 on Build GRCh38	Deletion	GPHN AKAP5 MTHFD1 FUT8-AS1 FUT8 PLEKHG3 MIR7855 SGPP1 ESR2 ZBTB1 MIR4708 SPTB TEX21P SYNE2 ZBTB25 FNTB GPX2 LINC00238 LOC100506321 PPP1R36 CHURC1 MIR548H1 MAX MIR625 HSPA2 LOC102723809 MIR4706 LOC100128233 CHURC1-FNTB RAB15

More Information

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Gene Ontology Categories:

Process(es)

regulation of Rho protein signal transduction
positive regulation of GTPase activity

Function(s)

Rho guanyl-nucleotide exchange factor activity