Hs06972362_cn

• Gene Symbol: CEP290
• Assay Reference Genome Location: Chr.12:88055647 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 56

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CEP290	NM_025114.3	50	7233	NP_079390.3
	XM_011538756.2	53	8103	XP_011537058.1
	XM_011538757.2	53	7911	XP_011537059.1
	XM_011538758.2	53	8100	XP_011537060.1
	XM_011538759.2	52	8094	XP_011537061.1
	XM_011538760.1	52	7980	XP_011537062.1
	XM_011538761.1	52	7938	XP_011537063.1
	XM_011538762.2	52	7335	XP_011537064.1
	XM_011538763.2	51	7242	XP_011537065.1
	XM_011538766.2	39	6330	XP_011537068.1
	XM_017019980.1	51	7971	XP_016875469.1
	XM_017019981.1	51	7929	XP_016875470.1
	XM_017019982.1	53	8103	XP_016875471.1
	XM_017019983.1	50	7221	XP_016875472.1
	AB002371.1	25	5249	BAA20828.2
	AF273044.1	14	2046	AAG34904.1
	DQ109808.1	50	7233	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	CEP290 LOC105369879 RASSF9 MKRN9P C12orf50 C12orf29 MGAT4C NTS
nsv483111	Chr.12:86306223 - 88606223 on Build GRCh38	Loss	CEP290 LOC105369879 MKRN9P C12orf50 C12orf29 MGAT4C TMTC3 KITLG

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