Hs06352003_cn

• Gene Symbol: CEP290
• Assay Reference Genome Location: Chr.12:88069957 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 Intron 47

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CEP290	NM_025114.3			NP_079390.3
	XM_011538756.2			XP_011537058.1
	XM_011538757.2			XP_011537059.1
	XM_011538758.2			XP_011537060.1
	XM_011538759.2			XP_011537061.1
	XM_011538760.1			XP_011537062.1
	XM_011538761.1			XP_011537063.1
	XM_011538762.2			XP_011537064.1
	XM_011538763.2			XP_011537065.1
	XM_011538764.2			XP_011537066.1
	XM_011538765.2			XP_011537067.1
	XM_011538766.2			XP_011537068.1
	XM_017019980.1			XP_016875469.1
	XM_017019981.1			XP_016875470.1
	XM_017019982.1			XP_016875471.1
	XM_017019983.1			XP_016875472.1
	AB002371.1			BAA20828.2
	AF273044.1			AAG34904.1
	DQ109808.1			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	C12orf50 MKRN9P CEP290 RASSF9 NTS MGAT4C C12orf29 LOC105369879
nsv483111	Chr.12:86306223 - 88606223 on Build GRCh38	Loss	TMTC3 C12orf50 MKRN9P CEP290 MGAT4C C12orf29 LOC105369879 KITLG

More Information

• Set Membership: Intragenic, Intronic, Non-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