Hs02003623_cn

• Gene Symbol: CEP120
• Assay Reference Genome Location: Chr.5:123345077 on build GRCh38
• Cytoband: 5q23.2

Target Gene Details

• Entrez Gene ID: 153241
• Gene Name: centrosomal protein 120
• Gene Aliases: CCDC100, SRTD13
• Location: Chr.5:123344885-123423592 on Build GRCh38
• Assay Gene Location: Within Exon 21

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CEP120	NM_001166226.1	20	4438	NP_001159698.1
	NM_153223.3	21	4519	NP_694955.2
	XM_005271901.4	20	4300	XP_005271958.1
	XM_011543185.2	20	4853	XP_011541487.1
	XM_011543186.2	17	4132	XP_011541488.1
	XM_017009085.1	17	3997	XP_016864574.1
	BX648687.1	11	2912	CAH10561.1
	CB854619.1	1	210

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1161297	Chr.5:123340647 - 123372682 on Build GRCh38	Duplication	CEP120
nsv830472	Chr.5:123240869 - 123416726 on Build GRCh38	Gain	CEP120

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

positive regulation of centrosome duplication
cerebral cortex development
neurogenesis
interkinetic nuclear migration
astral microtubule organization
regulation of protein localization
positive regulation of cilium assembly
centrosome organization

Function(s)

protein binding
protein C-terminus binding