Hs02564052_cn

• Gene Symbol: CDC42EP3
• Assay Reference Genome Location: Chr.2:37643569 on build GRCh38
• Cytoband: 2p22.2

Target Gene Details

• Entrez Gene ID: 10602
• Gene Name: CDC42 effector protein 3
• Gene Aliases: BORG2, CEP3, UB1
• Location: Chr.2:37641882-37672535 on Build GRCh38
• Assay Gene Location: Within Exon 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CDC42EP3	NM_001270436.1	2	3437	NP_001257365.1
	NM_001270437.1	2	3393	NP_001257366.1
	NM_001270438.1	2	3369	NP_001257367.1
	NM_006449.4	2	4028	NP_006440.2
	XM_011532482.2	2	3834	XP_011530784.1
	AK055915.1	1	568
	BQ432066.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv833825	Chr.2:37581026 - 37758774 on Build GRCh38	Gain	CDC42EP3
esv2759043	Chr.2:37569511 - 37911796 on Build GRCh38	Gain+Loss	LINC00211 CDC42EP3

More Information

Additional Information:

For this assay, SNP(s) [rs114822846] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

signal transduction
Rho protein signal transduction
regulation of cell shape
positive regulation of actin filament polymerization
positive regulation of pseudopodium assembly
positive regulation of GTPase activity

Function(s)

GTPase activator activity
cytoskeletal regulatory protein binding
GTP-Rho binding