Hs02767803_cn

• Gene Symbol: CEP290
• Assay Reference Genome Location: Chr.12:88059956 on build GRCh38
• Cytoband: 12q21.32

Target Gene Details

• Entrez Gene ID: 80184
• Gene Name: centrosomal protein 290
• Gene Aliases: 3H11Ag, BBS14, CT87, JBTS5, LCA10, MKS4, NPHP6, POC3, SLSN6, rd16
• Location: Chr.12:88049013-88142216 on Build GRCh38
• Assay Gene Location: Within Exon 54

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CEP290	NM_025114.3	48	6931	NP_079390.3
	XM_011538756.2	51	7801	XP_011537058.1
	XM_011538757.2	51	7609	XP_011537059.1
	XM_011538758.2	51	7798	XP_011537060.1
	XM_011538759.2	50	7792	XP_011537061.1
	XM_011538760.1			XP_011537062.1
	XM_011538761.1	50	7636	XP_011537063.1
	XM_011538762.2	50	7033	XP_011537064.1
	XM_011538763.2	49	6940	XP_011537065.1
	XM_011538766.2	37	6028	XP_011537068.1
	XM_017019980.1			XP_016875469.1
	XM_017019981.1	49	7627	XP_016875470.1
	XM_017019982.1	51	7801	XP_016875471.1
	XM_017019983.1	48	6919	XP_016875472.1
	AB002371.1	23	4947	BAA20828.2
	AF273044.1	12	1744	AAG34904.1
	DQ109808.1	48	6931	AAZ83370.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3892241	Chr.12:85305039 - 88102633 on Build GRCh38	Gain	RASSF9 C12orf50 NTS LOC105369879 MKRN9P MGAT4C C12orf29 CEP290
nsv483111	Chr.12:86306223 - 88606223 on Build GRCh38	Loss	TMTC3 C12orf50 KITLG LOC105369879 MKRN9P MGAT4C C12orf29 CEP290

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

G2/M transition of mitotic cell cycle
protein transport
hindbrain development
otic vesicle formation
cilium assembly
eye photoreceptor cell development
positive regulation of transcription, DNA-templated
pronephros development
cilium morphogenesis
regulation of establishment of protein localization
positive regulation of intracellular protein transport

Function(s)

protein binding
identical protein binding
microtubule minus-end binding