Hs06360126_cn

• Gene Symbol: CEP83
• Assay Reference Genome Location: Chr.12:94276204 on build GRCh38
• Cytoband: 12q22

Target Gene Details

• Entrez Gene ID: 51134
• Gene Name: centrosomal protein 83
• Gene Aliases: CCDC41, NPHP18, NY-REN-58
• Location: Chr.12:94268832-94459991 on Build GRCh38
• Assay Gene Location:

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CEP83

Target Gene Details

• Entrez Gene ID: 10154
• Gene Name: plexin C1
• Gene Aliases: CD232, PLXN-C1, VESPR
• Location: Chr.12:94148696-94307675 on Build GRCh38
• Assay Gene Location: Within Intron 23

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PLXNC1	NM_005761.2			NP_005752.1
	NR_037687.1
	XM_006719186.3			XP_006719249.1
	XM_011537730.2			XP_011536032.1
	XM_017018671.1			XP_016874160.1
	XM_017018672.1			XP_016874161.1
	AB208934.1			BAD92171.1
	AF030339.1			AAC18823.1
	AK295226.1
	AK304327.1
	AK307920.1
	AK308985.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv520739	Chr.12:94271406 - 94276428 on Build GRCh38	Loss	PLXNC1 CEP83
nsv832489	Chr.12:94186485 - 94352982 on Build GRCh38	Loss	PLXNC1 CEP83

More Information

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

Gene Ontology Categories:

Process(es)

cell adhesion
branchiomotor neuron axon guidance
regulation of cell migration
regulation of axon extension involved in axon guidance
semaphorin-plexin signaling pathway involved in axon guidance

Function(s)

receptor binding
protein binding
semaphorin receptor activity