CEP290 Gene

Name	centrosomal protein 290kDa
Description	This gene encodes a protein with 13 putative coiled-coil domains, a region with homology to SMC chromosome segregation ATPases, six KID motifs, three tropomyosin homology domains and an ATP/GTP binding site motif A. The protein is localized to the centrosome and cilia and has sites for N-glycosylation, tyrosine sulfation, phosphorylation, N-myristoylation, and amidation. Mutations in this gene have been associated with Joubert syndrome and nephronophthisis and the presence of antibodies against this protein is associated with several forms of cancer. [provided by RefSeq, Jul 2008]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n CEP290 is a large, multifunctional centrosomal‐ciliary protein that localizes to key subdomains of the centrosome and the primary cilium – notably to the connecting cilium of photoreceptors and the transition zone where Y‐link structures mediate a selective protein barrier. CEP290 plays an essential role in initiating and maintaining ciliogenesis by coordinating the docking of vesicles, regulating ciliary protein trafficking, and interacting with several other ciliopathy proteins such as CP110, PCM‐1, Rab8, and RPGR. Disruption of CEP290 function, frequently through splice‐altering mutations (including a common deep intronic variant that generates a cryptic exon), interferes with proper ciliary assembly and transport, ultimately leading to a spectrum of multisystemic disorders including Leber congenital amaurosis, Joubert syndrome, Meckel–Gruber syndrome, nephronophthisis, and other related ciliopathies."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "4"}]}, {"type": "t", "text": " \n In the retina, CEP290 is crucial for the integrity of photoreceptor connecting cilia and for ensuring proper microtubule‐based transport; its dysfunction in this tissue underlies severe early‐onset retinal degeneration."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "5"}]}, {"type": "t", "text": " \n Furthermore, studies in neural tissues and kidney epithelia reveal that loss of CEP290 perturbs centrosomal functions and ciliary signaling cascades that are critical for tissue morphogenesis and organ maintenance."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "7", "end_ref": "9"}]}, {"type": "t", "text": " \n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n CEP290 also interacts with proteins at the centriolar satellites to support the microtubule network organization and facilitate the targeting of Rab8, a key mediator of ciliary axoneme extension; loss of these interactions results in disrupted cytoskeletal organization and impaired ciliary assembly."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "10"}]}, {"type": "t", "text": " Moreover, comprehensive mutation analyses have shown that allelic defects in CEP290 are responsible for a highly variable clinical spectrum, reinforcing the concept that the precise disruption of CEP290‐mediated pathways determines disease severity and specific organ involvement."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "12", "end_ref": "15"}]}, {"type": "t", "text": " \n Animal models further substantiate that loss or truncation of CEP290 leads to defects in ciliogenesis that underlie hydrocephalus, cystic renal disease, and retinal degeneration, while experimental splicing rescue using antisense oligonucleotides provides promising avenues toward therapeutic intervention."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "16"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n Finally, genetic studies in patients have highlighted that CEP290 mutations represent one of the most frequent causes of isolated and syndromic retinal dystrophies, with a considerable impact on visual function and photoreceptor survival."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "18", "end_ref": "21"}]}, {"type": "t", "text": "\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Anneke I den Hollander, Robert K Koenekoop, Suzanne Yzer, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Hum Genet (2006)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1086/507318"}], "href": "https://doi.org/10.1086/507318"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16909394"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16909394"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Francesc R Garcia-Gonzalo, Kevin C Corbit, María Salomé Sirerol-Piquer, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Genet (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ng.891"}], "href": "https://doi.org/10.1038/ng.891"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21725307"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21725307"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "John A Sayer, Edgar A Otto, John F O'Toole, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Genet (2006)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ng1786"}], "href": "https://doi.org/10.1038/ng1786"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16682973"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16682973"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Marion Delous, Lekbir Baala, Rémi Salomon, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Genet (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ng2039"}], "href": "https://doi.org/10.1038/ng2039"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17558409"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17558409"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Bo Chang, Hemant Khanna, Norman Hawes, et al. "}, {"type": "b", "children": [{"type": "t", "text": "In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mol Genet (2006)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/hmg/ddl107"}], "href": "https://doi.org/10.1093/hmg/ddl107"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16632484"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16632484"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Artur V Cideciyan, Tomas S Aleman, Samuel G Jacobson, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Centrosomal-ciliary gene CEP290/NPHP6 mutations result in blindness with unexpected sparing of photoreceptors and visual brain: implications for therapy of Leber congenital amaurosis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mutat (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/humu.20565"}], "href": "https://doi.org/10.1002/humu.20565"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17554762"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17554762"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Carmen C Leitch, Norann A Zaghloul, Erica E Davis, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Genet (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ng.97"}], "href": "https://doi.org/10.1038/ng.97"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18327255"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18327255"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Enza Maria Valente, Jennifer L Silhavy, Francesco Brancati, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Genet (2006)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ng1805"}], "href": "https://doi.org/10.1038/ng1805"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16682970"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16682970"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Lekbir Baala, Stephane Romano, Rana Khaddour, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Hum Genet (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1086/510499"}], "href": "https://doi.org/10.1086/510499"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17160906"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17160906"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "Joon Kim, Suguna Rani Krishnaswami, Joseph G Gleeson "}, {"type": "b", "children": [{"type": "t", "text": "CEP290 interacts with the centriolar satellite component PCM-1 and is required for Rab8 localization to the primary cilium."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mol Genet (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/hmg/ddn277"}], "href": "https://doi.org/10.1093/hmg/ddn277"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18772192"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18772192"}]}, {"type": "r", "ref": 11, "children": [{"type": "t", "text": "William Y Tsang, Carine Bossard, Hemant Khanna, et al. "}, {"type": "b", "children": [{"type": "t", "text": "CP110 suppresses primary cilia formation through its interaction with CEP290, a protein deficient in human ciliary disease."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Dev Cell (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.devcel.2008.07.004"}], "href": "https://doi.org/10.1016/j.devcel.2008.07.004"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18694559"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18694559"}]}, {"type": "r", "ref": 12, "children": [{"type": "t", "text": "Frauke Coppieters, Steve Lefever, Bart P Leroy, et al. "}, {"type": "b", "children": [{"type": "t", "text": "CEP290, a gene with many faces: mutation overview and presentation of CEP290base."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mutat (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/humu.21337"}], "href": "https://doi.org/10.1002/humu.21337"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20690115"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20690115"}]}, {"type": "r", "ref": 13, "children": [{"type": "t", "text": "Lekbir Baala, Sophie Audollent, Jéléna Martinovic, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Hum Genet (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1086/519494"}], "href": "https://doi.org/10.1086/519494"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17564974"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17564974"}]}, {"type": "r", "ref": 14, "children": [{"type": "t", "text": "Nicholas T Gorden, Heleen H Arts, Melissa A Parisi, et al. "}, {"type": "b", "children": [{"type": "t", "text": "CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Hum Genet (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ajhg.2008.10.002"}], "href": "https://doi.org/10.1016/j.ajhg.2008.10.002"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18950740"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18950740"}]}, {"type": "r", "ref": 15, "children": [{"type": "t", "text": "Isabelle Perrault, Nathalie Delphin, Sylvain Hanein, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mutat (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/humu.9485"}], "href": "https://doi.org/10.1002/humu.9485"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17345604"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17345604"}]}, {"type": "r", "ref": 16, "children": [{"type": "t", "text": "Rivka A Rachel, Erin A Yamamoto, Mrinal K Dewanjee, et al. "}, {"type": "b", "children": [{"type": "t", "text": "CEP290 alleles in mice disrupt tissue-specific cilia biogenesis and recapitulate features of syndromic ciliopathies."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mol Genet (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/hmg/ddv123"}], "href": "https://doi.org/10.1093/hmg/ddv123"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25859007"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25859007"}]}, {"type": "r", "ref": 17, "children": [{"type": "t", "text": "Alejandro Garanto, Daniel C Chung, Lonneke Duijkers, et al. "}, {"type": "b", "children": [{"type": "t", "text": "In vitro and in vivo rescue of aberrant splicing in CEP290-associated LCA by antisense oligonucleotide delivery."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mol Genet (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/hmg/ddw118"}], "href": "https://doi.org/10.1093/hmg/ddw118"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "27106101"}], "href": "https://pubmed.ncbi.nlm.nih.gov/27106101"}]}, {"type": "r", "ref": 18, "children": [{"type": "t", "text": "Francesca Simonelli, Carmela Ziviello, Francesco Testa, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Invest Ophthalmol Vis Sci (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1167/iovs.07-0068"}], "href": "https://doi.org/10.1167/iovs.07-0068"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17724218"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17724218"}]}, {"type": "r", "ref": 19, "children": [{"type": "t", "text": "Valeska Frank, Anneke I den Hollander, Nadina Ortiz Brüchle, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mutat (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/humu.20614"}], "href": "https://doi.org/10.1002/humu.20614"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17705300"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17705300"}]}, {"type": "r", "ref": 20, "children": [{"type": "t", "text": "Edgar A Otto, Gokul Ramaswami, Sabine Janssen, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Med Genet (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1136/jmg.2010.082552"}], "href": "https://doi.org/10.1136/jmg.2010.082552"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21068128"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21068128"}]}, {"type": "r", "ref": 21, "children": [{"type": "t", "text": "Frauke Coppieters, Ingele Casteels, Françoise Meire, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mutat (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/humu.21336"}], "href": "https://doi.org/10.1002/humu.21336"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20683928"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20683928"}]}]}]}
Synonyms	NPHP6, POC3, BBS14, 3H11AG, MKS4, SLSN6, LCA10, CT87, JBTS5, RD16
Proteins	CE290_HUMAN
NCBI Gene ID	80184
API
Download Associations
Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

CEP290 has 7,830 functional associations with biological entities spanning 9 categories (molecular profile, organism, chemical, disease, phenotype or trait, functional term, phrase or reference, structural feature, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 120 datasets.

Click the + buttons to view associations for CEP290 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

CEP290 Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of CEP290 gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles	tissues with high or low expression of CEP290 gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles	tissue samples with high or low expression of CEP290 gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of CEP290 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq	tissue samples with high or low expression of CEP290 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of CEP290 gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	BioGPS Cell Line Gene Expression Profiles	cell lines with high or low expression of CEP290 gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of CEP290 gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	BioGPS Mouse Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of CEP290 gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	Carcinogenome Chemical Perturbation Carcinogenicity Signatures	small molecule perturbations changing expression of CEP290 gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of CEP290 gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
	CCLE Cell Line Gene Expression Profiles	cell lines with high or low expression of CEP290 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with CEP290 protein from the CCLE Cell Line Proteomics dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with CEP290 gene from the CellMarker Gene-Cell Type Associations dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of CEP290 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of CEP290 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
	ChEA Transcription Factor Targets 2022	transcription factors binding the promoter of CEP290 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	ClinVar Gene-Phenotype Associations	phenotypes associated with CEP290 gene from the curated ClinVar Gene-Phenotype Associations dataset.
	ClinVar Gene-Phenotype Associations 2025	phenotypes associated with CEP290 gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
	CM4AI U2OS Cell Map Protein Localization Assemblies	assemblies containing CEP290 protein from integrated AP-MS and IF data from the CM4AI U2OS Cell Map Protein Localization Assemblies dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of CEP290 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing CEP290 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing CEP290 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores 2025	cellular components containing CEP290 protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with CEP290 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with CEP290 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	COSMIC Cell Line Gene CNV Profiles	cell lines with high or low copy number of CEP290 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with CEP290 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with CEP290 gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with CEP290 gene/protein from the curated CTD Gene-Disease Associations dataset.
	DeepCoverMOA Drug Mechanisms of Action	small molecule perturbations with high or low expression of CEP290 protein relative to other small molecule perturbations from the DeepCoverMOA Drug Mechanisms of Action dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by CEP290 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores	diseases involving CEP290 gene from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores 2025	diseases involving CEP290 gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with CEP290 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	diseases co-occuring with CEP290 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
	DisGeNET Gene-Disease Associations	diseases associated with CEP290 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with CEP290 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
	ENCODE Histone Modification Site Profiles	histone modification site profiles with high histone modification abundance at CEP290 gene from the ENCODE Histone Modification Site Profiles dataset.
	ENCODE Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of CEP290 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.