Hs05567644_cn

• Gene Symbol: CDC42EP1
• Assay Reference Genome Location: Chr.22:37560079 on build GRCh38
• Cytoband: 22q13.1

Target Gene Details

• Entrez Gene ID: 11135
• Gene Name: CDC42 effector protein 1
• Gene Aliases: BORG5, CEP1, MSE55
• Location: Chr.22:37559778-37569405 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CDC42EP1	XM_006724109.1			XP_006724172.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv829203	Chr.22:36998126 - 37773322 on Build GRCh38	Loss	CYTH4 TRIOBP LOC102724378 ELFN2 LOC101927051 C1QTNF6 NOL12 CARD10 GGA1 TEX33 SH3BP1 TMPRSS6 RAC2 MPST KCTD17 PDXP SSTR3 LGALS1 LOC100506271 TST LGALS2 IL2RB CDC42EP1 MFNG
nsv1059320	Chr.22:37547292 - 37586005 on Build GRCh38	Loss	LGALS2 CDC42EP1
nsv834191	Chr.22:37533773 - 37717344 on Build GRCh38	Loss	SH3BP1 TRIOBP PDXP LGALS1 LGALS2 LOC101927051 NOL12 GGA1 CDC42EP1
nsv1057617	Chr.22:37462633 - 37713698 on Build GRCh38	Gain	SH3BP1 TRIOBP PDXP LGALS1 LGALS2 LOC101927051 NOL12 CARD10 GGA1 CDC42EP1 MFNG

More Information

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

Gene Ontology Categories:

Process(es)

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

Function(s)

GTPase activator activity
protein binding
GTP-Rho binding
cadherin binding involved in cell-cell adhesion