Hs03562993_cn

• Gene Symbol: PLEKHG4B
• Assay Reference Genome Location: Chr.5:94678 on build GRCh38
• Cytoband: 5p15.33

Target Gene Details

• Entrez Gene ID: 153478
• Gene Name: pleckstrin homology and RhoGEF domain containing G4B
• Gene Aliases: -
• Location: Chr.5:54065-189972 on Build GRCh38
• Assay Gene Location: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PLEKHG4B	XM_006714446.3			XP_006714509.1
	XM_011513968.2			XP_011512270.1
	XM_011513969.2			XP_011512271.1
	XM_011513971.2			XP_011512273.1
	XM_011513972.2			XP_011512274.1
	XM_011513973.1			XP_011512275.1
	XM_017009112.1			XP_016864601.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3894107	Chr.5:81322 - 801057 on Build GRCh38	Gain	MIR4456 EXOC3-AS1 SDHA PLEKHG4B LOC100288152 TPPP LRRC14B LOC100996325 LOC101929895 CEP72 SLC9A3 PP7080 AHRR PDCD6 HRAT5 ZDHHC11 EXOC3 ZDHHC11B CCDC127
nsv822925	Chr.5:49928 - 185592 on Build GRCh38	Gain	PLEKHG4B
nsv4671	Chr.5:81323 - 108807 on Build GRCh38	Insertion	PLEKHG4B
esv2752083	Chr.5:28951 - 346521 on Build GRCh38	Gain	SDHA PLEKHG4B AHRR LRRC14B PDCD6 HRAT5 CCDC127
dgv5519n100	Chr.5:71184 - 138345 on Build GRCh38	Gain	PLEKHG4B
dgv5514n100	Chr.5:15520 - 138345 on Build GRCh38	Gain	PLEKHG4B
nsv10643	Chr.5:59149 - 119560 on Build GRCh38	Gain+Loss	PLEKHG4B
esv3603727	Chr.5:74460 - 122563 on Build GRCh38	Loss	PLEKHG4B
dgv5518n100	Chr.5:63270 - 115984 on Build GRCh38	Gain	PLEKHG4B
nsv1031835	Chr.5:46687 - 138345 on Build GRCh38	Gain	PLEKHG4B
esv3603720	Chr.5:40419 - 176322 on Build GRCh38	Loss	PLEKHG4B
esv2759315	Chr.5:17263 - 595840 on Build GRCh38	Loss	MIR4456 EXOC3-AS1 SDHA PLEKHG4B LOC100288152 LRRC14B SLC9A3 PP7080 AHRR PDCD6 HRAT5 EXOC3 CCDC127
nsv428458	Chr.5:93781 - 338972 on Build GRCh38	Loss	SDHA PLEKHG4B AHRR LRRC14B PDCD6 HRAT5 CCDC127
nsv461885	Chr.5:27565 - 118291 on Build GRCh38	Gain	PLEKHG4B
dgv5517n100	Chr.5:19572 - 164078 on Build GRCh38	Loss	PLEKHG4B
dgv9471n54	Chr.5:12225 - 141544 on Build GRCh38	Loss	PLEKHG4B
nsv950616	Chr.5:71286 - 94685 on Build GRCh38	Deletion	PLEKHG4B
nsv441935	Chr.5:68560 - 115996 on Build GRCh38	Gain	PLEKHG4B

More Information

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

Panther Classification:

Molecular Function -

guanyl-nucleotide exchange factor

Gene Ontology Categories:

Process(es)

regulation of Rho protein signal transduction
positive regulation of GTPase activity

Function(s)

Rho guanyl-nucleotide exchange factor activity
protein binding