{ "uniprot_canonical_ac": "O15078-1", "uniprot_ac": "O15078", "uniprot_id": "CE290_HUMAN", "mass": { "chemical_mass": 290386.0, "monoisotopic_mass": 290386.0 }, "refseq": { "ac": "NP_079390", "name": "centrosomal protein of 290 kDa", "summary": "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].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_079390" }, "gene_names": [ { "name": "CEP290", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O15078", "id": "O15078" }, { "name": "3H11Ag; BBS14; CT87; JBTS5; LCA10; MKS4; NPHP6; POC3; rd16; SLSN6", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_079390", "id": "NP_079390" }, { "name": "BBS14", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O15078", "id": "O15078" }, { "name": "CEP290", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_079390", "id": "NP_079390" }, { "name": "KIAA0373", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O15078", "id": "O15078" }, { "name": "NPHP6", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O15078", "id": "O15078" } ], "protein_names": [ { "name": "Centrosomal protein of 290 kDa", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O15078" }, { "name": "Bardet-Biedl syndrome 14 protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15078" }, { "name": "CT87", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15078" }, { "name": "Cancer/testis antigen 87", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15078" }, { "name": "Cep290", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15078" }, { "name": "Nephrocystin-6", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15078" }, { "name": "POC3 centriolar protein homolog; cancer/testis antigen 87; centrosomal protein 290kDa; nephrocytsin-6; Meckel syndrome, type 4; CTCL tumor antigen se2-2; monoclonal antibody 3H11 antigen; prostate cancer antigen T21; Bardet-Biedl syndrome 14 protein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_079390", "id": "NP_079390" }, { "name": "Tumor antigen se2-2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15078" }, { "name": "centrosomal protein of 290 kDa", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_079390", "id": "NP_079390" } ], "function": [ { "annotation": "Alternative splicing in CEP290 mutant cats results in a milder phenotype than LCA[CEP290] patients.", "evidence": [ { "database": "RefSeq", "id": "NP_079390", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_079390" }, { "database": "PubMed", "id": "36495011", "url": "https://glygen.org/publication/PubMed/36495011" } ] }, { "annotation": "Clinical and Molecular Features of a Chinese Cohort With Syndromic and Nonsyndromic Retinal Dystrophies Related to the CEP290 Gene.", "evidence": [ { "database": "RefSeq", "id": "NP_079390", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_079390" }, { "database": "PubMed", "id": "36493848", "url": "https://glygen.org/publication/PubMed/36493848" } ] }, { "annotation": "Involved in early and late steps in cilia formation. Its association with CCP110 is required for inhibition of primary cilia formation by CCP110 (PubMed:18694559). May play a role in early ciliogenesis in the disappearance of centriolar satellites and in the transition of primary ciliar vesicles (PCVs) to capped ciliary vesicles (CCVs). Required for the centrosomal recruitment of RAB8A and for the targeting of centriole satellite proteins to centrosomes such as of PCM1 (PubMed:24421332). Required for the correct localization of ciliary and phototransduction proteins in retinal photoreceptor cells; may play a role in ciliary transport processes (By similarity). Required for efficient recruitment of RAB8A to primary cilium (PubMed:17705300). In the ciliary transition zone is part of the tectonic-like complex which is required for tissue-specific ciliogenesis and may regulate ciliary membrane composition (By similarity). Involved in regulation of the BBSome complex integrity, specifically for presence of BBS2, BBS5 and BBS8/TTC8 in the complex, and in ciliary targeting of selected BBSome cargos. May play a role in controlling entry of the BBSome complex to cilia possibly implicating IQCB1/NPHP5 (PubMed:25552655). Activates ATF4-mediated transcription (PubMed:16682973).", "evidence": [ { "database": "UniProtKB", "id": "O15078", "url": "https://www.uniprot.org/uniprot/O15078#function" }, { "database": "UniProtKB", "id": "Q6A078", "url": "https://www.uniprot.org/uniprot/Q6A078#function" }, { "database": "PubMed", "id": "18694559", "url": "https://glygen.org/publication/PubMed/18694559" }, { "database": "PubMed", "id": "16682973", "url": "https://glygen.org/publication/PubMed/16682973" }, { "database": "PubMed", "id": "17705300", "url": "https://glygen.org/publication/PubMed/17705300" }, { "database": "PubMed", "id": "25552655", "url": "https://glygen.org/publication/PubMed/25552655" }, { "database": "PubMed", "id": "24421332", "url": "https://glygen.org/publication/PubMed/24421332" } ] }, { "annotation": "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].", "evidence": [ { "database": "RefSeq", "id": "NP_079390", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_079390" } ] } ], "disease": [ { "disease_id": "DOID:0050576", "recommended_name": { "id": "DOID:0050576", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050576", "name": "Senior-Loken syndrome", "description": "A syndrome characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease." }, "synonyms": [ { "id": "DOID:0050576", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050576", "name": "Loken Senior syndrome", "description": "" }, { "id": "DOID:0050576", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050576", "name": "renal-retinal syndrome", "description": "" }, { "id": "MONDO:0009962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009962", "name": "Senior-Loken syndrome 1", "description": "Any Senior-Loken syndrome in which the cause of the disease is a mutation in the NPHP1 gene." }, { "id": "MONDO:0009962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009962", "name": "NPHP1 Senior-Loken syndrome", "description": "" }, { "id": "MONDO:0009962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009962", "name": "Senior-Loken syndrome 1", "description": "" }, { "id": "MONDO:0009962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009962", "name": "Senior-Loken syndrome caused by mutation in NPHP1", "description": "" }, { "id": "MONDO:0009962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009962", "name": "Senior-Loken syndrome type 1", "description": "" }, { "id": "MONDO:0009962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009962", "name": "senior-loken syndrome-1", "description": "" }, { "id": "MONDO:0009962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009962", "name": "Loken-Senior syndrome", "description": "" }, { "id": "MONDO:0009962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009962", "name": "SENIOR-Loken syndrome 1", "description": "" }, { "id": "MONDO:0009962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009962", "name": "SLSN1", "description": "" }, { "id": "MONDO:0009962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009962", "name": "Senior-Loken syndrome", "description": "" }, { "id": "MONDO:0009962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009962", "name": "juvenile nephronophthisis with Leber amaurosis", "description": "" }, { "id": "MONDO:0009962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009962", "name": "renal dysplasia and retinal aplasia", "description": "" }, { "id": "MONDO:0009962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009962", "name": "renal-retinal syndrome", "description": "" }, { "id": "MONDO:0012225", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012225", "name": "Senior-Loken syndrome 5", "description": "Any Senior-Loken syndrome in which the cause of the disease is a mutation in the IQCB1 gene." }, { "id": "MONDO:0012225", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012225", "name": "IQCB1 Senior-Loken syndrome", "description": "" }, { "id": "MONDO:0012225", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012225", "name": "Senior-Loken syndrome 5", "description": "" }, { "id": "MONDO:0012225", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012225", "name": "Senior-Loken syndrome caused by mutation in IQCB1", "description": "" }, { "id": "MONDO:0012225", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012225", "name": "Senior-Loken syndrome type 5", "description": "" }, { "id": "MONDO:0012225", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012225", "name": "SENIOR-Loken syndrome 5", "description": "" }, { "id": "MONDO:0012225", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012225", "name": "SLSN5", "description": "" }, { "id": "MONDO:0011755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011755", "name": "senior-loken syndrome 3", "description": "" }, { "id": "MONDO:0011755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011755", "name": "SLSN3", "description": "" }, { "id": "MONDO:0011755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011755", "name": "SENIOR-Loken syndrome 3", "description": "" }, { "id": "MONDO:0011756", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011756", "name": "Senior-Loken syndrome 4", "description": "Any Senior-Loken syndrome in which the cause of the disease is a mutation in the NPHP4 gene." }, { "id": "MONDO:0011756", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011756", "name": "NPHP4 Senior-Loken syndrome", "description": "" }, { "id": "MONDO:0011756", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011756", "name": "Senior-Loken syndrome 4", "description": "" }, { "id": "MONDO:0011756", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011756", "name": "Senior-Loken syndrome caused by mutation in NPHP4", "description": "" }, { "id": "MONDO:0011756", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011756", "name": "Senior-Loken syndrome type 4", "description": "" }, { "id": "MONDO:0011756", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011756", "name": "SENIOR-Loken syndrome 4", "description": "" }, { "id": "MONDO:0011756", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011756", "name": "SLSN4", "description": "" }, { "id": "MONDO:0013326", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013326", "name": "Senior-Loken syndrome 7", "description": "Any Senior-Loken syndrome in which the cause of the disease is a mutation in the SDCCAG8 gene." }, { "id": "MONDO:0013326", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013326", "name": "SDCCAG8 Senior-Loken syndrome", "description": "" }, { "id": "MONDO:0013326", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013326", "name": "Senior-Loken syndrome 7", "description": "" }, { "id": "MONDO:0013326", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013326", "name": "Senior-Loken syndrome caused by mutation in SDCCAG8", "description": "" }, { "id": "MONDO:0013326", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013326", "name": "Senior-Loken syndrome type 7", "description": "" }, { "id": "MONDO:0013326", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013326", "name": "SENIOR-Loken syndrome 7", "description": "" }, { "id": "MONDO:0013326", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013326", "name": "SLSN7", "description": "" }, { "id": "MONDO:0012433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012433", "name": "Senior-Loken syndrome 6", "description": "Any Senior-Loken syndrome in which the cause of the disease is a mutation in the CEP290 gene." }, { "id": "MONDO:0012433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012433", "name": "CEP290 Senior-Loken syndrome", "description": "" }, { "id": "MONDO:0012433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012433", "name": "Senior-Loken syndrome 6", "description": "" }, { "id": "MONDO:0012433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012433", "name": "Senior-Loken syndrome caused by mutation in CEP290", "description": "" }, { "id": "MONDO:0012433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012433", "name": "Senior-Loken syndrome type 6", "description": "" }, { "id": "MONDO:0012433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012433", "name": "SENIOR-Loken syndrome 6", "description": "" }, { "id": "MONDO:0012433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012433", "name": "SLSN6", "description": "" }, { "id": "MIM:266900", "resource": "MIM", "url": "https://www.omim.org/entry/266900", "name": "Senior-Loken syndrome 1", "description": "Senior-Loken syndrome 1" }, { "id": "MIM:609254", "resource": "MIM", "url": "https://www.omim.org/entry/609254", "name": "Senior-Loken syndrome 5", "description": "Senior-Loken syndrome 5" }, { "id": "MIM:606996", "resource": "MIM", "url": "https://www.omim.org/entry/606996", "name": "Senior-Loken syndrome 4", "description": "Senior-Loken syndrome 4" }, { "id": "MIM:613615", "resource": "MIM", "url": "https://www.omim.org/entry/613615", "name": "Senior-Loken syndrome 7", "description": "Senior-Loken syndrome 7" }, { "id": "MIM:610189", "resource": "MIM", "url": "https://www.omim.org/entry/610189", "name": "Senior-Loken syndrome 6", "description": "Senior-Loken syndrome 6" } ], "evidence": [ { "id": "610189", "database": "MIM", "url": "https://www.omim.org/entry/610189" } ] }, { "disease_id": "DOID:0070118", "recommended_name": { "id": "DOID:0070118", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070118", "name": "Meckel syndrome 4", "description": "A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the CEP290 gene on chromosome 12q21.32." }, "synonyms": [ { "id": "DOID:0070118", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070118", "name": "MKS4", "description": "" }, { "id": "DOID:0070118", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070118", "name": "Meckel-Gruber syndrome, type 4", "description": "" }, { "id": "MONDO:0012626", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012626", "name": "Meckel syndrome, type 4", "description": "Any Meckel syndrome in which the cause of the disease is a mutation in the CEP290 gene." }, { "id": "MONDO:0012626", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012626", "name": "CEP290 Meckel syndrome", "description": "" }, { "id": "MONDO:0012626", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012626", "name": "MKS4", "description": "" }, { "id": "MONDO:0012626", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012626", "name": "Meckel syndrome caused by mutation in CEP290", "description": "" }, { "id": "MONDO:0012626", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012626", "name": "Meckel syndrome, type 4", "description": "" }, { "id": "MONDO:0012626", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012626", "name": "Meckel-Gruber syndrome, type 4", "description": "" }, { "id": "MONDO:0012626", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012626", "name": "Meckel syndrome 4", "description": "" }, { "id": "MONDO:0012626", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012626", "name": "Meckel-like Cerebrorenodigital syndrome", "description": "" }, { "id": "MIM:611134", "resource": "MIM", "url": "https://www.omim.org/entry/611134", "name": "Meckel syndrome 4", "description": "Meckel syndrome 4" } ], "evidence": [ { "id": "611134", "database": "MIM", "url": "https://www.omim.org/entry/611134" } ] }, { "disease_id": "DOID:0110136", "recommended_name": { "id": "DOID:0110136", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110136", "name": "Bardet-Biedl syndrome 14", "description": "A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the CEP290 gene on chromosome 12q21." }, "synonyms": [ { "id": "DOID:0110136", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110136", "name": "BBS14", "description": "" }, { "id": "MONDO:0014442", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014442", "name": "Bardet-Biedl syndrome 14", "description": "A Bardet-Biedl syndrome that has material basis in homozygous mutation in the CEP290 gene on chromosome 12q21." }, { "id": "MONDO:0014442", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014442", "name": "BBS14", "description": "" }, { "id": "MONDO:0014442", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014442", "name": "Bardet-Biedl syndrome 14", "description": "" }, { "id": "MONDO:0014442", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014442", "name": "Bardet-Biedl syndrome 14, modifier of", "description": "" }, { "id": "MONDO:0014442", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014442", "name": "Bardet-Biedl syndrome type 14", "description": "" }, { "id": "MIM:615991", "resource": "MIM", "url": "https://www.omim.org/entry/615991", "name": "Bardet-Biedl syndrome 14", "description": "Bardet-Biedl syndrome 14" } ], "evidence": [ { "id": "615991", "database": "MIM", "url": "https://www.omim.org/entry/615991" } ] }, { "disease_id": "DOID:0110291", "recommended_name": { "id": "DOID:0110291", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110291", "name": "Leber congenital amaurosis 10", "description": "A Leber congenital amaurosis that is characterized by severe infantile-onset cone-rod dystrophy with high hyperopia and severe ERG abnormalities and has_material_basis_in mutation in the CEP290 gene on chromosome 12q21.32." }, "synonyms": [ { "id": "DOID:0110291", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110291", "name": "LCA10", "description": "" }, { "id": "MONDO:0012723", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012723", "name": "Leber congenital amaurosis 10", "description": "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the CEP290 gene." }, { "id": "MONDO:0012723", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012723", "name": "CEP290 Leber congenital amaurosis", "description": "" }, { "id": "MONDO:0012723", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012723", "name": "LCA10", "description": "" }, { "id": "MONDO:0012723", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012723", "name": "Leber congenital amaurosis 10", "description": "" }, { "id": "MONDO:0012723", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012723", "name": "Leber congenital amaurosis caused by mutation in CEP290", "description": "" }, { "id": "MONDO:0012723", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012723", "name": "Leber congenital amaurosis type 10", "description": "" }, { "id": "MONDO:0012723", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012723", "name": "amaurosis congenita of Leber, type 10", "description": "" }, { "id": "MIM:611755", "resource": "MIM", "url": "https://www.omim.org/entry/611755", "name": "Leber congenital amaurosis 10", "description": "Leber congenital amaurosis 10" } ], "evidence": [ { "id": "611755", "database": "MIM", "url": "https://www.omim.org/entry/611755" } ] }, { "disease_id": "DOID:0111000", "recommended_name": { "id": "DOID:0111000", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111000", "name": "Joubert syndrome 5", "description": "A Joubert syndrome that has_material_basis_in mutation in the CEP290 gene on chromosome 12q21." }, "synonyms": [ { "id": "DOID:0111000", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111000", "name": "JBTS5", "description": "" }, { "id": "MONDO:0012432", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012432", "name": "Joubert syndrome 5", "description": "Any Joubert syndrome in which the cause of the disease is a mutation in the CEP290 gene." }, { "id": "MONDO:0012432", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012432", "name": "CEP290 Joubert syndrome", "description": "" }, { "id": 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"MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O15078", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15078" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", 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"id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of 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"id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine 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{ "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed 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cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O15078", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15078" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "O15078", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15078" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "O15078", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15078" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", 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"name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O15078", "url": "https://www.uniprot.org/uniprot/O15078" } ], "common_name": "Human" } ], "gene": [ { "name": "CEP290", "url": "https://www.uniprot.org/uniprot/O15078", "locus": { "chromosome": "12", "start_pos": 88049016, "end_pos": 88142099, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000198707", "url": "https://www.ensembl.org/id/ENSG00000198707" } ] } } ], "crossref": [ { "id": "ENSG00000198707", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198707", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "O15078", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O15078", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "CEP290", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP290", "database": "GeneCards", "categories": 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"url": "https://www.uniprot.org/uniprot/A0A6Q8PGP6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PGP6-1", "url": "https://www.uniprot.org/uniprot/A0A6Q8PGP6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PGQ4", "url": "https://www.uniprot.org/uniprot/A0A6Q8PGQ4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PGQ4-1", "url": "https://www.uniprot.org/uniprot/A0A6Q8PGQ4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PH24", "url": "https://www.uniprot.org/uniprot/A0A6Q8PH24", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PH24-1", "url": "https://www.uniprot.org/uniprot/A0A6Q8PH24-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PH78", "url": "https://www.uniprot.org/uniprot/A0A6Q8PH78", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PH78-1", "url": "https://www.uniprot.org/uniprot/A0A6Q8PH78-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8VS29", "url": "https://www.uniprot.org/uniprot/F8VS29", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8VS29-1", "url": "https://www.uniprot.org/uniprot/F8VS29-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8W097", "url": "https://www.uniprot.org/uniprot/F8W097", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8W097-1", "url": "https://www.uniprot.org/uniprot/F8W097-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "J3KNF5", "url": "https://www.uniprot.org/uniprot/J3KNF5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "J3KNF5-1", "url": "https://www.uniprot.org/uniprot/J3KNF5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O15078", "url": "https://www.uniprot.org/uniprot/O15078", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O15078-1", "url": "https://www.uniprot.org/uniprot/O15078-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "S4R322", "url": "https://www.uniprot.org/uniprot/S4R322", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "S4R322-1", "url": "https://www.uniprot.org/uniprot/S4R322-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MPPNINWKEIMKVDPDDLPRQEELADNLLISLSKVEVNELKSEKQENVIHLFRITQSLMKMKAQEVELALEEVEKAGEEQAKFENQLKTKVMKLENELEMAQQSAGGRDTRFLRNEICQLEKQLEQKDRELEDMEKELEKEKKVNEQLALRNEEAENENSKLRRENKRLKKKNEQLCQDIIDYQKQIDSQKETLLSRRGEDSDYRSQLSKKNYELIQYLDEIQTLTEANEKIEVQNQEMRKNLEESVQEMEKMTDEYNRMKAIVHQTDNVIDQLKKENDHYQLQVQELTDLLKSKNEEDDPIMVAVNAKVEEWKLILSSKDDEIIEYQQMLHNLREKLKNAQLDADKSNVMALQQGIQERDSQIKMLTEQVEQYTKEMEKNTCIIEDLKNELQRNKGASTLSQQTHMKIQSTLDILKEKTKEAERTAELAEADAREKDKELVEALKRLKDYESGVYGLEDAVVEIKNCKNQIKIRDREIEILTKEINKLELKISDFLDENEALRERVGLEPKTMIDLTEFRNSKHLKQQQYRAENQILLKEIESLEEERLDLKKKIRQMAQERGKRSATSGLTTEDLNLTENISQGDRISERKLDLLSLKNMSEAQSKNEFLSRELIEKERDLERSRTVIAKFQNKLKELVEENKQLEEGMKEILQAIKEMQKDPDVKGGETSLIIPSLERLVNAIESKNAEGIFDASLHLKAQVDQLTGRNEELRQELRESRKEAINYSQQLAKANLKIDHLEKETSLLRQSEGSNVVFKGIDLPDGIAPSSASIINSQNEYLIHLLQELENKEKKLKNLEDSLEDYNRKFAVIRHQQSLLYKEYLSEKETWKTESKTIKEEKRKLEDQVQQDAIKVKEYNNLLNALQMDSDEMKKILAENSRKITVLQVNEKSLIRQYTTLVELERQLRKENEKQKNELLSMEAEVCEKIGCLQRFKEMAIFKIAALQKVVDNSVSLSELELANKQYNELTAKYRDILQKDNMLVQRTSNLEHLECENISLKEQVESINKELEITKEKLHTIEQAWEQETKLGNESSMDKAKKSITNSDIVSISKKITMLEMKELNERQRAEHCQKMYEHLRTSLKQMEERNFELETKFAELTKINLDAQKVEQMLRDELADSVSKAVSDADRQRILELEKNEMELKVEVSKLREISDIARRQVEILNAQQQSRDKEVESLRMQLLDYQAQSDEKSLIAKLHQHNVSLQLSEATALGKLESITSKLQKMEAYNLRLEQKLDEKEQALYYARLEGRNRAKHLRQTIQSLRRQFSGALPLAQQEKFSKTMIQLQNDKLKIMQEMKNSQQEHRNMENKTLEMELKLKGLEELISTLKDTKGAQKVINWHMKIEELRLQELKLNRELVKDKEEIKYLNNIISEYERTISSLEEEIVQQNKFHEERQMAWDQREVDLERQLDIFDRQQNEILNAAQKFEEATGSIPDPSLPLPNQLEIALRKIKENIRIILETRATCKSLEEKLKEKESALRLAEQNILSRDKVINELRLRLPATAEREKLIAELGRKEMEPKSHHTLKIAHQTIANMQARLNQKEEVLKKYQRLLEKAREEQREIVKKHEEDLHILHHRLELQADSSLNKFKQTAWDLMKQSPTPVPTNKHFIRLAEMEQTVAEQDDSLSSLLVKLKKVSQDLERQREITELKVKEFENIKLQLQENHEDEVKKVKAEVEDLKYLLDQSQKESQCLKSELQAQKEANSRAPTTTMRNLVERLKSQLALKEKQQKALSRALLELRAEMTAAAEERIISATSQKEAHLNVQQIVDRHTRELKTQVEDLNENLLKLKEALKTSKNRENSLTDNLNDLNNELQKKQKAYNKILREKEEIDQENDELKRQIKRLTSGLQGKPLTDNKQSLIEELQRKVKKLENQLEGKVEEVDLKPMKEKNAKEELIRWEEGKKWQAKIEGIRNKLKEKEGEVFTLTKQLNTLKDLFAKADKEKLTLQRKLKTTGMTVDQVLGIRALESEKELEELKKRNLDLENDILYMRAHQALPRDSVVEDLHLQNRYLQEKLHALEKQFSKDTYSKPSISGIESDDHCQREQELQKENLKLSSENIELKFQLEQANKDLPRLKNQVRDLKEMCEFLKKEKAEVQRKLGHVRGSGRSGKTIPELEKTIGLMKKVVEKVQRENEQLKKASGILTSEKMANIEQENEKLKAELEKLKAHLGHQLSMHYESKTKGTEKIIAENERLRKELKKETDAAEKLRIAKNNLEILNEKMTVQLEETGKRLQFAESRGPQLEGADSKSWKSIVVTRMYETKLKELETDIAKKNQSITDLKQLVKEATEREQKVNKYNEDLEQQIKILKHVPEGAETEQGLKRELQVLRLANHQLDKEKAELIHQIEANKDQSGAESTIPDADQLKEKIKDLETQLKMSDLEKQHLKEEIKKLKKELENFDPSFFEEIEDLKYNYKEEVKKNILLEEKVKKLSEQLGVELTSPVAASEEFEDEEESPVNFPIY", "length": 2479, "header": "sp|O15078-1|CE290_HUMAN Isoform 1 of Centrosomal protein of 290 kDa OS=Homo sapiens OX=9606 GN=CEP290 PE=1 SV=2 CANONICAL=O15078-1" }, "isoforms": [ { "isoform_ac": "A0A0A0MS86-1", "url": "", "sequence": { "sequence": "MPPNINWKEIMKVDPDDLPRQEELADNLLISLSKVEVNELKSEKQENVIHLFRITQSLMKMKAQEVELALEEVEKAGEEQAKFENQLKTKVMKLENELEMAQQSAGGRDTRFLRNEICQLEKQLEQKDRELEDMEKELEKEKKVNEQNKRLKKKNEQLCQDIIDYQKQIDSQKETLLSRRGEDSDYRSQLSKKNYELIQYLDEIQTLTEANEKIEVQNQEMRKNLEESVQEMEKMTDEYNRMKAIVHQTDNVIDQLKKENDHYQLQVQELTDLLKSKNEEDDPIMVAVNAKVEEWKLILSSKDDEIIEYQQMLHNLREKLKNAQLDADKSNVMALQQGIQERDSQIKMLTEQVEQYTKEMEKNTCIIEDLKNELQRNKGASTLSQQTHMKIQSTLDILKEKTKEAERTAELAEADAREKDKELVEALKRLKDYESGVYGLEDAVVEIKNCKNQIKIRDREIEILTKEINKLELKISDFLDENEALRERVGLEPKTMIDLTEFRNSKHLKQQQYRAENQILLKEIESLEEERLDLKKKIRQMAQERGKRSATSGLTTEDLNLTENISQGDRISERKLDLLSLKNMSEAQSK", "length": 590, "header": "tr|A0A0A0MS86-1|A0A0A0MS86_HUMAN Computationally mapped isoform of Centrosomal protein 290 OS=Homo sapiens OX=9606 GN=CEP290 PE=1 SV=2 CANONICAL=O15078-1" }, "locus": { "chromosome": "12", "start_pos": 88141307, "end_pos": 88117033, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000397838.8", "url": "https://www.ensembl.org/id/ENST00000397838.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000380938.5", "url": "https://www.ensembl.org/id/ENSP00000380938.5" } ] } }, { "isoform_ac": "A0A5F9ZHU6-1", "url": "", "sequence": { "sequence": "MPPNINWKEIMKVDPDDLPRQEELADNLLISLSKVEVNELKSEKQENVIHLFRITQSLMKMKAQEVELALEEVEKAGEEQAKFENQLKTKVMKLENELEMAQQSAGGRDTRFLRNEICQLEKQLEQKDRELEDMEKELEKEKKVNEQLALRNEEAENENSKLRRENKRLKKKNEQLCQDIIDYQKQIDSQKETLLSRRGEDSDYRSQLSKKNYELIQYLDEIQTLTEANEKIEVQNQEMRKNLEESVQEMEKMTDEYNRMKAIVHQTDNVIDQLKKENDHYQLQVQELTDLLKSKNEEDDPIMVAVNAKVEEWKLILSSKDDEIIEYQQMLHNLREKLKNAQLDADKSNVMALQQGIQERDSQIKMLTEQVEQYTKEMEKNTCIIEDLKNELQRNKGASTLSQQTHMKIQSTLDILKEKTKEAERTAELAEADAREKDKELVEALKRLKDYESGVYGLEDAVVEIKNCKNQIKIRDREIEILTKEINKLELKISDFLDENEALRERVGLEPKTMIDLTEFRNSKHLKQQQYRAENQILLKEIESLEEERLDLKKKIRQMAQERGKRSATSGLTTEDLNLTENISQGDRISERKLDLLSLKNMSEAQSKNEFLSRELIEKERDLERSRTVIAKFQNKLKELVEENKQLEEGMKEILQAIKEMQKDPDVKGGETSLIIPSLERLVNAIESKNAEGIFDASLHLKAQVDQLTGRNEELRQELRESRKEAINYSQQLAKANLKIDHLEKETSLLRQSEGSNVVFKGIDLPDGIAPSSASIINSQNEYLIHLLQELENKEKKLKNLEDSLEDYNRKFAVIRHQQSLLYKEYLSEKETWKTESKTIKEEKRKLEDQVQQDAIKVKEYNNLLNALQMDSDEMKKILAENSRKITVLQVNEKSLIRQYTTLVELERQLRKENEKQKNELLSMEAEVCEKIGCLQRFKEMAIFKIAALQKVVDNSVSLSELELANKQYNELTAKYRDILQKDNMLVQRTSNLEHLECENISLKEQVESINKELEITKEKLHTIEQAWEQETKLGNESSMDKAKKSITNSDIVSISKKITMLEMKELNERQRAEHCQKMYEHLRTSLKQMEERNFELETKFAELTKINLDAQKVEQMLRDELADSVSKAVSDADRQRILELEKNEMELKVEVSKLREISDIARRQVEILNAQQQSRDKEVESLRMQLLDYQAQSDEKSLIAKLHQHNVSLQLSEATALGKLESITSKLQKMEAYNLRLEQKLDEKEQALYYARLEGRNRAKHLRQTIQSLRRQFSGALPLAQQEKFSKTMIQLQNDKLKIMQEMKNSQQEHRNMENKTLEMELKLKGLEELISTLKDTKGAQKVINWHMKIEELRLQELKLNRELVKDKEEIKYLNNIISEYERTISSLEEEIVQQNKFHEERQMAWDQREVDLERQLDIFDRQQNEILNAAQKFEEATGSIPDPSLPLPNQLEIALRKIKENIRIILETRATCKSLEEKLKEKESALRLAEQNILSRDKVINELRLRLPATAEREKLIAELGRKEMEPKSHHTLKIAHQTIANMQARLNQKEEVLKKYQRLLEKAREEQREIVKKHEEDLHILHHRLELQADSSLNKFKQTAWDLMKQSPTPVPTNKHFIRLAEMEQTVAEQDDSLSSLLVKLKKVSQDLERQREITELKVKEFENIKLQLQENHEDEVKKVKAEVEDLKYLLDQSQKESQCLKSELQAQKEANSRAPTTTMRNLVERLKSQLALKEKQQKALSRALLELRAEMTAAAEERIISATSQKEAHLNVQQIVDRHTRELKTQVEDLNENLLKLKEALKTSKNRENSLTDNLNDLNNELQKKQKAYNKILREKEEIDQENDELKRQIKRLTSGLQGKPLTDNKQSLIEELQRKVKKLENQLEGKVEEVDLKPMKEKNAKEELIRWEEGKKWQAKIEGIRNKLKEKEGEVFTLTKQLNTLKDLFAKADKEKLTLQRKLKTTGMTVDQVLGIRALESEKELEELKKRNLDLENDILYMRAHQALPRDSVVEDLHLQNRYLQEKLHALEKQFSKDTYSKPSISGIESDDHCQREQELQKENLKLSSENIELKFQLEQANKDLPRLKNQVRDLKEMCEFLKKEKAEVQRKLGHVRGSGRSGKTIPELEKTIGLMKKVVEKVQRENEQLKKASGILTSEKMANIEQENEKLKETDAAEKLRIAKNNLEILNEKMTVQLEETGKRLQFAESRGPQLEGADSKSWKSIVVTRMYETKLKELETDIAKKNQSITDLKQLVKEATEREQKVNKYNEDLEQQIKILKHVPEGAETEQGLKRELQVLRLANHQLDKEKAELIHQIEANKDQSGAESTIPDADQLKEKIKDLETQLKMSDLEKQHLKEEIKKLKKELENFDPSFFEEIEDLKYNYKEEVKKNILLEEKVKKLSEQLGVELTSPVAASEEFEDEEESPVNFPIY", "length": 2438, "header": "tr|A0A5F9ZHU6-1|A0A5F9ZHU6_HUMAN Computationally mapped isoform of Centrosomal protein 290 OS=Homo sapiens OX=9606 GN=CEP290 PE=1 SV=2 CANONICAL=O15078-1" }, "locus": { "chromosome": "12", "start_pos": 88141307, "end_pos": 88049187, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000673058.2", "url": "https://www.ensembl.org/id/ENST00000673058.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000500665.2", "url": "https://www.ensembl.org/id/ENSP00000500665.2" } ] } }, { "isoform_ac": "A0A5F9ZHV7-1", "url": "", "sequence": { "sequence": "MPPNINWKEIMKVDPDDLPRQEELADNLLISLSKVEVNELKSEKQENVIHLFRITQSLMKMKAQEVELALEEVEKAGEEQAKFENQLKTKVMKLENELEMAQQSAGGRDTRFLRNEICQLEKQLEQKDRELEDMEKELEKEKKVNEQLALRNEEAENENSKLRRENKRLKKKNEQLCQDIIDYQKQIDSQKETLLSRRGEDSDYRSQLSKKNYELIQYLDEIQTLTEANEKIEVQNQEMRKNLEESVQEMEKMTDEYNRMKAIVHQTDNVIDQLKKENDHYQLQVQELTDLLKSKNEEDDPIMVAVNAKVEEWKLILSSKDDEIIEYQQMLHNLREKLKNAQLDADKSNVMALQQGIQERDSQIKMLTEQVEQYTKEMEKNTCIIEDLKNELQRNKGASTLSQQTHMKIQSTLDILKEKTKEAERTAELAEADAREKDKELVEALKRLKDYESGVYGLEDAVVEIKNCKNQIKIRDREIEILTKEINKLELKISDFLDENEALRERVGLEPKTMIDLTEFRNSKHLKQQQYRAENQILLKEIESLEEERLDLKKKIRQMAQERGKRSATSE", "length": 571, "header": "tr|A0A5F9ZHV7-1|A0A5F9ZHV7_HUMAN Computationally mapped isoform of Centrosomal protein 290 OS=Homo sapiens OX=9606 GN=CEP290 PE=1 SV=1 CANONICAL=O15078-1" }, "locus": { "chromosome": "12", "start_pos": 88141307, "end_pos": 88115181, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000675794.1", "url": "https://www.ensembl.org/id/ENST00000675794.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000502841.1", "url": "https://www.ensembl.org/id/ENSP00000502841.1" } ] } }, { "isoform_ac": "A0A5K1VW81-1", "url": "", "sequence": { "sequence": "XERQLRKENEKQKNELLSMEAEVCEKIGCLQRFKEMAIFKIAALQKVVDNSVSLSELELANKQYNELTAKYRDILQKDNMLVQRTSNLEHLECENISLKEQVESINKELEITKEKLHTIEQAWEQETKLGNESSMDKAKKSITNSDIVSISKKITMLEMKELNERQRAEHCQKMYEHLRTSLKQMEERNFELETKFAELTKINLDAQKVEQMLRDELADSVSKAVSDADRQRILELEKNEMELKVEVSKLREISDIARRQVEILNAQQQSRDKEVESLRMQLLDYQAQSDEKSLIAKLHQHNVSLQLSEATALGKLESITSKLQKMEAYNLRLEQKLDEKEQALYYARLEGRNRAKHLRQTIQSLRRQFSGALPLAQQEKFSKTMIQLQNDKLKIMQEMKNSQQEHRNMENKTLEMELKLKGLEELISTLKDTKGAQKVINWHMKIEELRLQELKLNRELVKDKEEIKYLNNIISEYERTISSLEEEIVQQNKFHEERQMAWDQREVDLERQLDIFDRQQNEILNAAQKFEEATGSIPDPSLPLPNQLEIALRKIKENIRIILETRATCKSLEEKLKEKESALRLAEQNILSRDKVINELRLRLPATAEREKLIAELGRKEMEPKSHHTLKIAHQTIANMQARLNQKEEVLKKYQRLLEKAREEQREIVKKHEEDLHILHHRLELQADSSLNKFKQTAWDLMKQSPTPVPTNKHFIRLAEMEQTVAEQDDSLSSLLVKLKKVSQDLERQREITELKVKEFENIKLQLQENHEDEVKKVKAEVEDLKYLLDQSQKESQCLKSELQAQKEANSRAPTTTMRNLVERLKSQLALKEKQQKALSRALLELRAEMTAAAEERIISATSQKEAHLNVQQIVDRHTRELKTQVEDLNENLLKLKEALKTSKNRENSLTDNLNDLNNELQKKQKAYNKILREKEEIDQENDELKRQIKRLTSGLQGKPLTDNKQSLIEELQRKVKKLENQLEGKVEEVDLKPMKEKNAKEELIRWEEGKKWQAKIEGIRNKLKEKEGEVFTLTKQLNTLKDLFAKADKEKLTLQRKLKTTGMTVDQVLGIRALESEKELEELKKRNLDLENDILYMRAHQALPRDSVVEDLHLQNRYLQEKLHALEKQFSKDTYSKPSISGIESDDHCQREQELQKENLKLSSENIELKFQLEQANKDLPRLKNQVRDLKEMCEFLKKEKAEVQRKLGHVRGSGRSGKTIPELEKTIGLMKKVVEKVQRENEQLKKASGILTSEKMANIEQENEKLKAELEKLKAHLGHQLSMHYESKTKGTEKIIAENERLRKELKKIKILKHVPEGAETEQGLKRELQVLRLANHQLDKEKAELIHQIEANKDQSGAESTIPDADQLKEKIKDLETQLKMSDLEKQHLKEEIKKLKKELENFDPSFFEEIEDLKYNYKEEVKKNILLEEKVKKLSEQLGVELTSPVAASEEFEDEEESPVNFPIY", "length": 1469, "header": "tr|A0A5K1VW81-1|CE290_HUMAN Computationally mapped isoform of Centrosomal protein of 290 kDa OS=Homo sapiens OX=9606 GN=CEP290 PE=1 SV=2 CANONICAL=O15078-1" }, "locus": { "chromosome": "12", "start_pos": 88106775, "end_pos": 88049186, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000547691.8", "url": "https://www.ensembl.org/id/ENST00000547691.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000446905.3", "url": "https://www.ensembl.org/id/ENSP00000446905.3" } ] } }, { "isoform_ac": "A0A6Q8PEZ6-1", "url": "", "sequence": { "sequence": "EMAIFKIAALQKVVDNSVSLSELELANKQYNELTAKYRDILQKDNMLVQRTSNLEHLECENISLKEQVESINKELEITKEKLHTIEQAWEQETKLD", "length": 96, "header": "tr|A0A6Q8PEZ6-1|A0A6Q8PEZ6_HUMAN Computationally mapped isoform of Centrosomal protein 290 OS=Homo sapiens OX=9606 GN=CEP290 PE=1 SV=1 CANONICAL=O15078-1" }, "locus": { "chromosome": "12", "start_pos": 88103011, "end_pos": 88090838, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000675089.1", "url": "https://www.ensembl.org/id/ENST00000675089.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000501582.1", "url": "https://www.ensembl.org/id/ENSP00000501582.1" } ] } }, { "isoform_ac": "A0A6Q8PFZ5-1", "url": "", "sequence": { "sequence": "MPPNINWKEIMKVDPDDLPRQEELADNLLISLSKVEVNELKSEKQENVIHLFRITQSLMKMKAQEVELALEEVEKAGEEQAKFENQLKTKVMKLENELEMAQQSAGGRDTRFLRNEICQLEKQLEQKDRELEDMEKELEKEKKVNDWLFEMRRQKMKTAN", "length": 160, "header": "tr|A0A6Q8PFZ5-1|A0A6Q8PFZ5_HUMAN Computationally mapped isoform of Centrosomal protein 290 OS=Homo sapiens OX=9606 GN=CEP290 PE=1 SV=1 CANONICAL=O15078-1" }, "locus": { "chromosome": "12", "start_pos": 88141307, "end_pos": 88131176, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000676351.1", "url": "https://www.ensembl.org/id/ENST00000676351.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000502046.1", "url": "https://www.ensembl.org/id/ENSP00000502046.1" } ] } }, { "isoform_ac": "A0A6Q8PG44-1", "url": "", "sequence": { "sequence": "MPPNINWKEIMKVDPDDLPRQEELADNLLISLSKVEVNELKSEKQENVIHLFRITQSLMKMKAQEVELALEEVEKAGEEQAKFENQLKTKVMKLENELEMAQQSAGGRDTRFLRNEICQLEKQLEQKDRELEDMEKELEKEKKVNEQLALRNEEAENENSKLRRENKRLKKKNEQLCQDIIDYQKQIDSQKETLLSRRGEDSDYRSQLSKKNYELIQYLDEIQTLTEANEKIEVQNQEMRKNLEESVQEMEKMTDEYNRMKAIVHQTDNVIDQLKKENDHYQLQVQELTDLLKSKNEEDDPIMVAVNAKVEEWKLILSSKDDEIIEYQQMLHNLREKLKNAQLDADKSNVMALQQGIQERDSQIKMLTEQVEQYTKEMEKNTCIIEDLKNELQRNKGASTLSQQTHMKIQSTLDILKEKTKEAERTAELAEADAREKDKELVEALKRLKDYESGVYGLEDAVVEIKNCKNQIKIRDREIEILTKEINKLELKISDFLDENEALRERVGLEPKTMIDLTEFRNSKHLKQQQYRAENQILLKEIESLEEERLDLKKKIRQMAQERGKRSATSGLTTEDLNLTENISQGDRISERKLDLLSLKNMSEAQSKNEFLSRELIEKERDLERSRTVIAKFQNKLKELVEENKQLEEGMKEILQAIKEMQKDPDVKGGETSLIIPSLERLVNAIESKNAEGIFDASLHLKAQVDQLTGRNEELRQELRESRKEAINYSQQLAKANLKIDHLEKETSLLRQSEGSNVVFKGIDLPDGIAPSSASIINSQNEYLIHLLQELENKEKKLKNLEDSLEDYNRKFAVIRHQQSLLYKEYLSEKETWKTESKTIKEEKRKLEDQVQQDAIKVKEYNNLLNALQMDSDEMKKILAENSRKITVLQVNEKSLIRQYTTLVELERQLRKENEKQKNELLSMEAEVCEKIGCLQRFKEMAIFKIAALQKVVDNSVSLSELELANKQYNELTAKYRDILQKDNMLVQRTSNLEHLECENISLKEQVESINKELEITKEKLHTIEQAWEQETKLGNESSMDKAKKSITNSDIVSISKKITMLEMKELNERQRAEHCQKMYEHLRTSLKQMEERNFELETKFAELTKINLDAQKVEQMLRDELADSVSKAVSDADRQRILELEKNEMELKVEVSKLREISDIARRQVEILNAQQQSRDKEVESLRMQLLDYQAQSDEKSLIAKLHQHNVSLQLSEATALGKLESITSKLQKMEAYNLRLEQKLDEKEQALYYARLEGRNRAKHLRQTIQSLRRQFSGALPLAQQEKFSKTMIQLQNDKLKIMQEMKNSQQEHRNMENKTLEMELKLKGLEELISTLKDTKGAQKVINWHMKIEELRLQELKLNRELVKDKEEIKYLNNIISEYERTISSLEEEIVQQNKFHEERQMAWDQREVDLERQLDIFDRQQNEILNAAQKFEEATGSIPDPSLPLPNQLEIALRKIKENIRIILETRATCKSLEEKLKEKESALRLAEQNILSRDKVINELRLRLPATAEREKLIAELGRKEMEPKSHHTLKIAHQTIANMQARLNQKEEVLKKYQRLLEKAREEQREIVKKHEEDLHILHHRLELQADSSLNKFKQTAWDLMKQSPTPVPTNKHFIRLAEMEQTVAEQDDSLSSLLVKLKKVSQDLERQREITELKVKEFENIKLQLQENHEDEVKKVKAEVEDLKYLLDQSQKESQCLKSELQAQKEANSRAPTTTMRNLVERLKSQLALKEKQQKALSRALLELRAEMTAAAEERIISATSQKEAHLNVQQIVDRHTRELKTQVEDLNENLLKLKEALKTSKNRENSLTDNLNDLNNELQKKQKAYNKILREKEEIDQENDELKRQIKRLTSGLQGKPLTDNKQSLIEELQRKVKKLENQLEGKVEEVDLKPMKEKNAKEELIRWEEGKKWQAKIEGIRNKLKEKEGEVFTLTKQLNTLKDLFAKADKEKLTLQRKLKTTGMTVDQVLGIRALESEKELEELKKRNLDLENDILYMRAHQALPRDSVVEDLHLQNRYLQEKLHALEKQFSKDTYSKPSISGIESDDHCQREQELQKENLKLSSENIELKFQLEQANKDLPRLKNQVRDLKEMCEFLKKEKAEVQRKLGHVRGAELEKLKAHLGHQLSMHYESKTKGTEKIIAENERLRKELKKETDAAEKLRIAKNNLEILNEKMTVQLEETGKRLQFAESRGPQLEGADSKSWKSIVVTRMYETKLKELETDIAKKNQSITDLKQLVKEATEREQKVNKYNEDLEQQIS", "length": 2267, "header": "tr|A0A6Q8PG44-1|A0A6Q8PG44_HUMAN Computationally mapped isoform of Centrosomal protein 290 OS=Homo sapiens OX=9606 GN=CEP290 PE=1 SV=1 CANONICAL=O15078-1" }, "locus": { "chromosome": "12", "start_pos": 88141307, "end_pos": 88053741, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000676074.1", "url": "https://www.ensembl.org/id/ENST00000676074.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000502079.1", "url": "https://www.ensembl.org/id/ENSP00000502079.1" } ] } }, { "isoform_ac": "A0A6Q8PGA1-1", "url": "", "sequence": { "sequence": "MPPNINWKEIMKVDPDDLPRQEELADNLLISLSKVEVNELKSEKQENVIHLFRITQSLMKMKAQEVELALEEVEKAGEEQAKFENQLKTKVMKLENELEMAQQSAGGRDTRFLRNEICQLEKQLEQKDRELEDMEKELEKEKKVNEQLALRNEEAENENSKLRRENKRLKKKNEQLCQDIIDYQKQIDSQKETLLSRRGEDSDYRSQLSKKNYELIQYLDEIQTLTEANEKIEVQNQEMRKNLEESVQEMEKMTDEYNRMKAIVHQTDNVIDQLKKENDHYQLQVQELTDLLKSKNEEDDPIMVAVNAKVEEWKLILSSKDDEIIEYQQMLHNLREKLKNAQLDADKSNVMALQQGIQERDSQIKMLTEQVEQYTKEMEKNTCIIEDLKNELQRNKGASTLSQQTHMKIQSTLDILKEKTKEAERTAELAEADAREKDKELVEALKRLKDYESGVYGLEDAVVEIKNCKNQIKIRDREIEILTKEINKLELKISDFLDENEALRERVVVLGPQIRLLINLDYQITAF", "length": 527, "header": "tr|A0A6Q8PGA1-1|A0A6Q8PGA1_HUMAN Computationally mapped isoform of Centrosomal protein 290 OS=Homo sapiens OX=9606 GN=CEP290 PE=1 SV=1 CANONICAL=O15078-1" }, "locus": { "chromosome": "12", "start_pos": 88141307, "end_pos": 88119092, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000675559.1", "url": "https://www.ensembl.org/id/ENST00000675559.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000502163.1", "url": "https://www.ensembl.org/id/ENSP00000502163.1" } ] } }, { "isoform_ac": "A0A6Q8PGB1-1", "url": "", "sequence": { "sequence": "MPPNINWKEIMKVDPDDLPRQEELADNLLISLSKVEVNELKSEKQENVIHLFRITQSLMKMKAQEVELALEEVEKAGEEQAKFENQLKTKVMKLENELEMAQQSAGGRDTRFLRNEICQLEKQLEQKDRELEDMEKELEKEKKVNEQLALRNEEAENENSKLRRENKRLKKKNEQLCQDIIDYQKQIDSQKETLLSRRGEDSDYRSQLSKKNYELIQYLDEIQTLTEANEKIEVQNQEMRKNLEESVQEMEKMTDEYNRMKAIVHQTDNVIDQLKKENDHYQLQVQELTDLLKSKNEEDDPIMVAVNAKVEEWKLILSSKDDEIIEYQQMLHNLREKLKNAQLDADKSNVMALQQGIQERDSQIKMLTEQVEQYTKEMEKNTCIIEDLKNELQRNKGASTLSQQTHMKIQSTLDILKEKTKEAERTAELAEADAREKDKELVEALKRLKDYESGVYGLEDAVVEIKNCKNQIKIRDREIEILTKEINKLELKISDFLDENEALRERVGLEPKTMIDLTEFRNSKHLKQQQYRAENQILLKEIESLEEERLDLKKKIRQMAQERGKRSATSGLTTEDLNLTENISQGDRISERKLDLLSLKNMSEAQSKIRSSDKAELLHRRSSFNTPQSDQNETEENMTIGSLSRMLSEIHHSVESGMHPFVPLTRLSSSMQVKENSTPETITIREIFKAPCLQSSRNLESLVSTFSRESHEEINDICLFSDDCMKKVSRSHQALEKTSFVQKSNSSFHGLSTASDIMQKLSLRQKSAIFCQQIHENRADMDKSQVATLEEEQVHSQVKYADINLKEDIIKSEVPLQTEILKNKLKVNLPDPVSITAQSKLSQINSLENLIEQLRRELVFLRSQNEIIAQEFLIKEAECRNADIELEHHRSQAEQNEFLSRELIEKERDLERSRTVIAKFQNKLKELVEENKQLEEGMKEILQAIKEMQKDPDVKGGETSLIIPSLERLVNAIESKNAEGIFDASLHLKAQVDQLTGRNEELRQELRESRKEAINYSQQLAKANLKIDHLEKETSLLRQSEGSNVVFKGIDLPDGIAPSSASIINSQNEYLIHLLQELENKEKKLKNLEDSLEDYNRKFAVIRHQQSLLYKEYLSEKETWKTESKTIKEEKRKLEDQVQQDAIKVKEYNNLLNALQMDSDEMKKILAENSRKITVLQVNEKSLIRQYTTLVELERQLRKENEKQKNELLSMEAEVCEKIGCLQRFKEMAIFKIAALQKVVDNSVSLSELELANKQYNELTAKYRDILQKDNMLVQRTSNLEHLECENISLKEQVESINKELEITKEKLHTIEQAWEQETKLGNESSMDKAKKSITNSDIVSISKKITMLEMKELNERQRAEHCQKMYEHLRTSLKQMEERNFELETKFAELTKINLDAQKVEQMLRDELADSVSKAVSDADRQRILELEKNEMELKVEVSKLREISDIARRQVEILNAQQQSRDKEVESLRMQLLDYQAQSDEKSLIAKLHQHNVSLQLSEATALGKLESITSKLQKMEAYNLRLEQKLDEKEQALYYARLEGRNRAKHLRQTIQSLRRQFSGALPLAQQEKFSKTMIQLQNDKLKIMQEMKNSQQEHRNMENKTLEMELKLKGLEELISTLKDTKGAQKVINWHMKIEELRLQELKLNRELVKDKEEIKYLNNIISEYERTISSLEEEIVQQNKFHEERQMAWDQREVDLERQLDIFDRQQNEILNAAQKFEEATGSIPDPSLPLPNQLEIALRKIKENIRIILETRATCKSLEEKLKEKESALRLAEQNILSRDKVINELRLRLPATAEREKLIAELGRKEMEPKSHHTLKIAHQTIANMQARLNQKEEVLKKYQRLLEKAREEQREIVKKHEEDLHILHHRLELQADSSLNKFKQTAWDLMKQSPTPVPTNKHFIRLAEMEQTVAEQDDSLSSLLVKLKKVSQDLERQREITELKVKEFENIKLQLQENHEDEVKKVKAEVEDLKYLLDQSQKESQCLKSELQAQKEANSRAPTTTMRNLVERLKSQLALKEKQQKALSRALLELRAEMTAAAEERIISATSQKEAHLNVQQIVDRHTRELKTQVEDLNENLLKLKEALKTSKNRENSLTDNLNDLNNELQKKQKAYNKILREKEEIDQENDELKRQIKRLTSGLQGKPLTDNKQSLIEELQRKVKKLENQLEGKVEEVDLKPMKEKNAKEELIRWEEGKKWQAKIEGIRNKLKEKEGEVFTLTKQLNTLKDLFAKADKEKLTLQRKLKTTGMTVDQVLGIRALESEKELEELKKRNLDLENDILYMRAHQALPRDSVVEDLHLQNRYLQEKLHALEKQFSKDTYSKPSISGIESDDHCQREQELQKENLKLSSENIELKFQLEQANKDLPRLKNQVRDLKEMCEFLKKEKAEVQRKLGHVRGSGRSGKTIPELEKTIGLMKKVVEKVQRENEQLKKASGILTSEKMANIEQENEKLKAELEKLKAHLGHQLSMHYESKTKGTEKIIAENERLRKELKKETDAAEKLRIAKNNLEILNEKMTVQLEETGKRLQFAESRGPQLEGADSKSWKSIVVTRMYETKLKELETDIAKKNQSITDLKQLVKEATEREQKVNKYNEDLEQQIKILKHVPEGAETEQGLKRELQVLRLANHQLDKEKAELIHQIEANKDQSGAESTIPDADQLKEKIKDLETQLKMSDLEKQHLKEEIKKLKKELENFDPSFFEEIEDLKYNYKEEVKKNILLEEKVKKLSEQLGVELTSPVAASEEFEDEEESPVNFPIY", "length": 2766, "header": "tr|A0A6Q8PGB1-1|A0A6Q8PGB1_HUMAN Computationally mapped isoform of Centrosomal protein 290 OS=Homo sapiens OX=9606 GN=CEP290 PE=1 SV=1 CANONICAL=O15078-1" }, "locus": { "chromosome": "12", "start_pos": 88141307, "end_pos": 88049187, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000675476.1", "url": "https://www.ensembl.org/id/ENST00000675476.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000502161.1", "url": "https://www.ensembl.org/id/ENSP00000502161.1" } ] } }, { "isoform_ac": "A0A6Q8PGC3-1", "url": "", "sequence": { "sequence": "MPPNINWKEIMKVDPDDLPRQEELADNLLISLSKVEVNELKSEKQENVIHLFRITQSLMKMKAQEVELALEEVEKAGEEQAKFENQLKTKVMKLENELEMAQQSAGGRDTRFLRNEICQLEKQLEQKDRELEDMEKELEKEKKVNEQLALRNEEAENENSKLRRENKRLKKKNEQLCQDIIDYQKQIDSQKETLLSRRGEDSDYRSQLSKKNYELIQYLDEIQTLTEANEKIEVQNQEMRKNLEESVQEMEKMTDEYNRMKAIVHQTDNVIDQLKKENDHYQLQVQELTDLLKSKNEEDDPIMVAVNAKVEEWKLILSSKDDEIIEYQQMLHNLREKLKNAQLDADKSNVMALQQGIQERDSQIKMLTEQVEQYTKEMEKNTCIIEDLKNELQRNKGASTLSQQTHMKIQSTLDILKEKTKEAERTAELAEADAREKDKELVEALKRLKDYESGVYGLEDAVVEIKNCKNQIKIRDREIEILTKEINKLELKISDFLDENEALRERVGLEPKTMIDLTEFRNSKHLKQQQYRAENQILLKEIESLEEERLDLKKKIRQMAQERGKRSATSGLTTEDLNLTENISQGDRISERKLDLLSLKNMSEAQSKNEFLSRELIEKERDLERSRTVIAKFQNKLKELVEENKQLEEGMKEILQAIKEMQKDPDVKGGETSLIIPSLERLVNAIESKNAEGIFDASLHLKAQVDQLTGRNEELRQELRESRKEAINYSQQLAKANLKIDHLEKETSLLRQSEGSNVVFKGIDLPDGIAPSSASIINSQNEYLIHLLQELENKEKKLKNLEDSLEDYNRKFAVIRHQQSLLYKEYLSEKETWKTESKTIKEEKRKLEDQVQQDAIKVKEYNNLLNALQMDSDEMKKILAENSRKITVLQVNEKSLIRQYTTLVELERQLRKENEKQKNELLSMEAEVCEKIGCLQRFKEMAIFKIAALQKVVDNSVSLSELELANKQYNELTAKYRDILQKDNMLVQRTSNLEHLECENISLKEQVESINKELEITKEKLHTIEQAWEQETKLGNESSMDKAKKSITNSDIVSISKKITMLEMKELNERQRAEHCQKMYEHLRTSLKQMEERNFELETKFAELTKINLDAQKVEQMLRDELADSVSKAVSDADRQRILELEKNEMELKVEVSKLREISDIARRQVEILNAQQQSRDKEVESLRMQLLDYQAQSDEKSLIAKLHQHNVSLQLSEATALGKLESITSKLQKMEAYNLRLEQKLDEKEQALYYARLEGRNRAKHLRQTIQSLRRQFSGALPLAQQEKFSKTMIQLQNDKLKIMQEMKNSQQEHRNMENKTLEMELKLKGLEELISTLKDTKGAQKVINWHMKIEELRLQELKLNRELVKDKEEIKYLNNIISEYERTISSLEEEIVQQNKFHEERQMAWDQREVDLERQLDIFDRQQNEILNAAQKFEEATGSIPDPSLPLPNQLEIALRKIKENIRIILETRATCKSLEEKLKEKESALRLAEQNILSRDKVINELRLRLPATAEREKLIAELGRKEMEPKSHHTLKIAHQTIANMQARLNQKEEVLKKYQRLLEKAREEQREIVKKHEEDLHILHHRLELQADSSLNKFKQTAWDLMKQSPTPVPTNKHFIRLAEMEQTVAEQDDSLSSLLVKLKKVSQDLERQREITELKVKEFENIKLQLQENHEDEVKKVKAEVEDLKYLLDQSQKESQCLKSELQAQKEANSRAPTTTMRNLVERLKSQLALKEKQQKALSRALLELRAEMTAAAEERIISATSQKEAHLNVQQIVDRHTRELKTQVEDLNENLLKLKEALKTSKNRENSLTDNLNDLNNELQKKQKAYNKILREKEEIDQENDELKRQIKRLTSGLQGKPLTDNKQSLIEELQRKVKKLENQLEGKVEEVDLKPMKEKNAKEELIRWEEGKKWQAKIEGIRNKLKEKEGEVFTLTKQLNTLKDLFAKADKEKLTLQRKLKTTGMTVDQVLGIRALESEKELEELKKRNLDLENDILYMRAHQALPRDSVVEDLHLQNRYLQEKLHALEKQFSKDTYSKPSISGIESDDHCQREQELQKENLKLSSENIELKFQLEQANKDLPRLKNQVRDLKEMCEFLKKEKAEVQRKLGHVRGSGRSGKTIPELEKTIGLMKKVVEKVQRENEQLKKASGILTSEKMANIEQENEKLKAELEKLKAHLGHQLSMHYESKTKGTEKIIAENERLRKELKKETDAAEKLRIAKNNLEILNEKMTVQLEETGKRLQFAESRGPQLEGADSKSWKSIVVTRMYETKLKELETDIAKKNQSITDLKQLVKEATEREQKVNKYNEDLEQQIS", "length": 2322, "header": "tr|A0A6Q8PGC3-1|A0A6Q8PGC3_HUMAN Computationally mapped isoform of Centrosomal protein 290 OS=Homo sapiens OX=9606 GN=CEP290 PE=1 SV=1 CANONICAL=O15078-1" }, "locus": { "chromosome": "12", "start_pos": 88141307, "end_pos": 88053741, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000674971.1", "url": "https://www.ensembl.org/id/ENST00000674971.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000502194.1", "url": "https://www.ensembl.org/id/ENSP00000502194.1" } ] } }, { "isoform_ac": "A0A6Q8PGP6-1", "url": "", "sequence": { "sequence": "MPPNINWKEIMKVDPDDLPRQEELADNLLISLSKVEVNELKSEKQENVIHLFRITQSLMKMKAQEVELALEEVEKAGEEQAKFENQLKTKVMKLENELEMAQQSAGGRDTRFLRNEICQLEKQLEQKDRELEDMEKELEKEKKVNEQLALRNEEAENENSKLRRENKRLKKKNEQLCQDIIDYQKQIDSQKETLLSRRGEDSDYRSQLSKKNYELIQYLDEIQTLTEANEKIEVQNQEMRKNLEESVQEMEKMTDEYNRMKAIVHQTDNVIDQLKKENDHYQLQVQELTDLLKSKNEEDDPIMVAVNAKVEEWKLILSSKDDEIIEYQQMLHNLREKLKNAQLDADKSNVMALQQGIQERDSQIKMLTEQVEQYTKEMEKNTCIIEDLKNELQRNKGASTLSQQTHMKIQSTLDILKEKTKEAERTAELAEADAREKDKELVEALKRLKDYESGVYGLEDAVVEIKNCKNQIKIRDREIEILTKEINKLELKISDFLDENEALRERVGLEPKTMIDLTEFRNSKHLKQQQYRAENQILLKEIESLEEERLDLKKKIRQMAQERGKRSATSGLTTEDLNLTENISQGDRISERKLDLLSLKNMSEAQSKNEFLSRELIEKERDLERSRTVIAKFQNKLKELVEENKQLEEGMKEILQAIKEMQKDPDVKGGETSLIIPSLERLVNAIESKNAEGIFDASLHLKAQVDQLTGRNEELRQELRESRKEAINYSQQLAKANLKIDHLEKETSLLRQSEGSNVVFKGIDLPDGIAPSSASIINSQNEYLIHLLQELENKEKKLKNLEDSLEDYNRKFAVIRHQQSLLYKEYLSEKETWKTESKTIKEEKRKLEDQVQQDAIKVKEYNNLLNALQMDSDEMKKILAENSRKITVLQVNEKSLIRQYTTLVELERQLRKENEKQKNELLSMEAEVCEKIGCLQRFKEMAIFKIAALQKVVDNSVSLSELELANKQYNELTAKYRDILQKDNMLVQRTSNLEHLECENISLKEQVESINKELEITKEKLHTIEQAWEQETKLGNESSMDKAKKSITNSDIVSISKKITMLEMKELNERQRAEHCQKMYEHLRTSLKQMEERNFELETKFAELTKINLDAQKVEQMLRDELADSVSKAVSDADRQRILELEKNEMELKVEVSKLREISDIARRQVEILNAQQQSRDKEVESLRMQLLDYQAQSDEKSLIAKLHQHNVSLQLSEATALGKLESITSKLQKMEAYNLRLEQKLDEKEQALYYARLEGRNRAKHLRQTIQSLRRQFSGALPLAQQEKFSKTMIQLQNDKLKIMQEMKNSQQEHRNMENKTLEMELKLKGLEELISTLKDTKGAQKVINWHMKIEELRLQELKLNRELVKDKEEIKYLNNIISEYERTISSLEEEIVQQNKFHEERQMAWDQREVDLERQLDIFDRQQNEILNAAQKFEEATGSIPDPSLPLPNQLEIALRKIKENIRIILETRATCKSLEEKLKEKESALRLAEQNILSRDKVINELRLRLPATAEREKLIAELGRKEMEPKSHHTLKIAHQTIANMQARLNQKEEVLKKYQRLLEKAREEQREIVKKHEEDLHILHHRLELQADSSLNKFKQTAWDLMKQSPTPVPTNKHFIRLAEMEQTVAEQDDSLSSLLVKLKKVSQDLERQREITELKVKEFENIKLQLQENHEDEVKKVKAEVEDLKYLLDQSQKESQCLKSELQAQKEANSRAPTTTMRNLVERLKSQLALKEKQQKALSRALLELRAEMTAAAEERIISATSQKEAHLNVQQIVDRHTRELKTQVEDLNENLLKLKEALKTSKNRENSLTDNLNDLNNELQKKQKAYNKILREKEEIDQENDELKRQIKRLTSGLQGKPLTDNKQSLIEELQRKVKKLENQLEGKVEEVDLKPMKEKNAKEELIRWEEGKKWQAKIEGIRNKLKEKEGEVFTLTKQLNTLKDLFAKADKEKLTLQRKLKTTGMTVDQVLGIRALESEKELEELKKRNLDLENDILYMRAHQALPRDSVVEDLHLQNRYLQEKLHALEKQFSKDTYSKPSISGIESDDHCQREQELQKENLKLSSENIELKFQLEQANKDLPRLKNQVRDLKEMCEFLKKEKAEVQRKLGHVRGAELEKLKAHLGHQLSMHYESKTKGTEKIIAENERLRKELKKETDAAEKLRIAKNNLEILNEKMTVQLEETGKRLQFAESRGPQLEGADSKSWKSIVVTRMYETKLKELETDIAKKNQSITDLKQLVKEATEREQKVNKYNEDLEQQIKILKHVPEGAETEQGLKRELQVLRLANHQLDKEKAELIHQIEANKDQSGAESTIPDADQLKEKIKDLETQLKMSDLEKQHLKEEIKKLKKELENFDPSFFEEIEDLKYNYKEEVKKNILLEEKVKKLSEQLGVELTSPVAASEEFEDEEESPVNFPIY", "length": 2424, "header": "tr|A0A6Q8PGP6-1|CE290_HUMAN Computationally mapped isoform of Centrosomal protein of 290 kDa OS=Homo sapiens OX=9606 GN=CEP290 PE=1 SV=1 CANONICAL=O15078-1" }, "locus": { "chromosome": "12", "start_pos": 88141307, "end_pos": 88049187, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000675408.1", "url": "https://www.ensembl.org/id/ENST00000675408.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000502298.1", "url": "https://www.ensembl.org/id/ENSP00000502298.1" } ] } }, { "isoform_ac": "A0A6Q8PGQ4-1", "url": "", "sequence": { "sequence": "MPPNINWKEIMKVDPDDLPRQEELADNLLISLSKVEVNELKSEKQENVIHLFRITQSLMKMKAQEVELALEEVEKAGEEQAKFENQLKTKVMKLENELEMAQQSAGGRDTRFLRNEICQLEKQLEQKDRELEDMEKELEKEKKVNEQLALRNEEAENENSKLRRENKRLKKKNEQLCQDIIDYQKQIDSQKETLLSRRGEDSDYRSQLSKKNYELIQYLDEIQTLTEANEKIEVQNQEMRKNLEESVQEMEKMTDEYNRMKAIVHQTDNVIDQLKKENDHYQLQVQELTDLLKSKNEEDDPIMVAVNAKVEEWKLILSSKDDEIIEYQQMLHNLREKLKNAQLDADKSNVMALQQGIQERDSQIKMLTEQVEQYTKEMEKNTCIIEDLKNELQRNKGASTLSQQTHMKIQSTLDILKEKTKEAERTAELAEADAREKDKELVEALKRLKDYESGVYGLEDAVVEIKNCKNQIKIRDREIEILTKEINKLELKISDFLDENEALRERALNQRQ", "length": 512, "header": "tr|A0A6Q8PGQ4-1|A0A6Q8PGQ4_HUMAN Computationally mapped isoform of Centrosomal protein 290 OS=Homo sapiens OX=9606 GN=CEP290 PE=1 SV=1 CANONICAL=O15078-1" }, "locus": { "chromosome": "12", "start_pos": 88141307, "end_pos": 88118726, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000676418.1", "url": "https://www.ensembl.org/id/ENST00000676418.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000502371.1", "url": "https://www.ensembl.org/id/ENSP00000502371.1" } ] } }, { "isoform_ac": "A0A6Q8PH24-1", "url": "", "sequence": { "sequence": "MPPNINWKEIMKVDPDDLPRQEELADNLLISLSKVEVNELKSEKQENVIHLFRITQSLMKMKAQEVELALEEVEKAGEEQAKFENQLKTKVMKLENELEMAQQSAGGRDTRFLRNEICQLEKQLEQKDRELEDMEKELEKEKKVNEQLALRNEEAENENSKLRRENEQLCQDIIDYQKQIDSQKETLLSRRGEDSDYRSQLSKKNYELIQYLDEIQTLTEANEKIEVQNQEMRKNLEESVQEMEKMTDEYNRMKAIVHQTDNVIDQLKKENDHYQLQVQELTDLLKSKNEEDDPIMVAVNAKVEEWKLILSSKDDEIIEYQQMLHNLREKLKNAQLDADKSNVMALQQGIQERDSQIKMLTEQVEQYTKEMEKNTCIIEDLKNELQRNKGASTLSQQTHMKIQSTLDILKEKTKEAERTAELAEADAREKDKELVEALKRLKDYESGVYGLEDAVVEIKNCKNQIKIRDREIEILTKEINKLELKISDFLDENEALRERVGLEPKTMIDLTEFRNSKHLKQQQYRAENQILLKEIESLEEERLDLKKKIRQMAQERGKRSATSGLTTEDLNLTENISQGDRISERKLDLLSLKNMSEAQSKNEFLSRELIEKERDLERSRTVIAKFQNKLKELVEENKQLEEGMKEILQAIKEMQKDPDVKGGETSLIIPSLERLVNAIESKNAEGIFDASLHLKAQVDQLTGRNEELRQELRESRKEAINYSQQLAKANLKIDHLEKETSLLRQSEGSNVVFKGIDLPDGIAPSSASIINSQNEYLIHLLQELENKEKKLKNLEDSLEDYNRKFAVIRHQQSLLYKEYLSEKETWKTESKTIKEEKRKLEDQVQQDAIKVKEYNNLLNALQMDSDEMKKILAENSRKITVLQVNEKSLIRQYTTLVELERQLRKENEKQKNELLSMEAEVCEKIGCLQRFKEMAIFKIAALQKVVDNSVSLSELELANKQYNELTAKYRDILQKDNMLVQRTSNLEHLECENISLKEQVESINKELEITKEKLHTIEQAWEQETKLGNESSMDKAKKSITNSDIVSISKKITMLEMKELNERQRAEHCQKMYEHLRTSLKQMEERNFELETKFAELTKINLDAQKVEQMLRDELADSVSKAVSDADRQRILELEKNEMELKVEVSKLREISDIARRQVEILNAQQQSRDKEVESLRMQLLDYQAQSDEKSLIAKLHQHNVSLQLSEATALGKLESITSKLQKMEAYNLRLEQKLDEKEQALYYARLEGRNRAKHLRQTIQSLRRQFSGALPLAQQEKFSKTMIQLQNDKLKIMQEMKNSQQEHRNMENKTLEMELKLKGLEELISTLKDTKGAQKVINWHMKIEELRLQELKLNRELVKDKEEIKYLNNIISEYERTISSLEEEIVQQNKFHEERQMAWDQREVDLERQLDIFDRQQNEILNAAQKFEEATGSIPDPSLPLPNQLEIALRKIKENIRIILETRATCKSLEEKLKEKESALRLAEQNILSRDKVINELRLRLPATAEREKLIAELGRKEMEPKSHHTLKIAHQTIANMQARLNQKEEVLKKYQRLLEKAREEQREIVKKHEEDLHILHHRLELQADSSLNKFKQTAWDLMKQSPTPVPTNKHFIRLAEMEQTVAEQDDSLSSLLVKLKKVSQDLERQREITELKVKEFENIKLQLQENHEDEVKKVKAEVEDLKYLLDQSQKESQCLKSELQAQKEANSRAPTTTMRNLVERLKSQLALKEKQQKALSRALLELRAEMTAAAEERIISATSQKEAHLNVQQIVDRHTRELKTQVEDLNENLLKLKEALKTSKNRENSLTDNLNDLNNELQKKQKAYNKILREKEEIDQENDELKRQIKRLTSGLQGKPLTDNKQSLIEELQRKVKKLENQLEGKVEEVDLKPMKEKNAKEELIRWEEGKKWQAKIEGIRNKLKEKEGEVFTLTKQLNTLKDLFAKADKEKLTLQRKLKTTGMTVDQVLGIRALESEKELEELKKRNLDLENDILYMRAHQALPRDSVVEDLHLQNRYLQEKLHALEKQFSKDTYSKPSISGIESDDHCQREQELQKENLKLSSENIELKFQLEQANKDLPRLKNQVRDLKEMCEFLKKEKAEVQRKLGHVRGSGRSGKTIPELEKTIGLMKKVVEKVQRENEQLKKASGILTSEKMANIEQENEKLKAELEKLKAHLGHQLSMHYESKTKGTEKIIAENERLRKELKKETDAAEKLRIAKNNLEILNEKMTVQLEETGKRLQFAESRGPQLEGADSKSWKSIVVTRMYETKLKELETDIAKKNQSITDLKQLVKEATEREQKVNKYNEDLEQQIKILKHVPEGAETEQGLKRELQVLRLANHQLDKEKAELIHQIEANKDQSGAESTIPDADQLKEKIKDLETQLKMSDLEKQHLKEEIKKLKKELENFDPSFFEEIEDLKYNYKEEVKKNILLEEKVKKLSEQLGVELTSPVAASEEFEDEEESPVNFPIY", "length": 2472, "header": "tr|A0A6Q8PH24-1|A0A6Q8PH24_HUMAN Computationally mapped isoform of Centrosomal protein 290 OS=Homo sapiens OX=9606 GN=CEP290 PE=1 SV=1 CANONICAL=O15078-1" }, "locus": { "chromosome": "12", "start_pos": 88141307, "end_pos": 88049187, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000675230.1", "url": "https://www.ensembl.org/id/ENST00000675230.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000502503.1", "url": "https://www.ensembl.org/id/ENSP00000502503.1" } ] } }, { "isoform_ac": "A0A6Q8PH78-1", "url": "", "sequence": { "sequence": "MPPNINWKEIMKVDPDDLPRQEELADNLLISLSKVEVNELKSEKQENVIHLFRITQSLMKMKAQEVELALEEVEKAGEEQAKFENQLKTKVMKLENELEMAQQSAGGRDTRFLRNEICQLEKQLEQKDRELEDMEKELEKEKKVNEQLALRNEEAENENSKLRRENKRLKKKNEQLCQDIIDYQKQIDSQKETLLSRRGEDSDYRSQLSKKNYELIQYLDEIQTLTEANEKIEVQNQEMRKNLEESVQEMEKMTDEYNRMKAIVHQTDNVIDQLKKENDHYQLQVQELTDLLKSKNEEDDPIMVAVNAKVEEWKLILSSKDDEIIEYQQMLHNLREKLKNAQLDADKSNVMALQQGIQERDSQIKMLTEQVEQYTKEMEKNTCIIEDLKNELQRNKGASTLSQQTHMKIQSTLDILKEKTKEAERTAELAEADAREKDKELVEALKRLKDYESGVYGLEDAVVEIKNCKNQIKIRDREIEILTKEINKLELKISDFLDENEALRERVGLEPKTMIDLTEFRNSKHLKQQQYRAENQILLKEIESLEEERLDLKKKIRQMAQERGKRSATSGLTTEDLNLTENISQGDRISERKLDLLSLKNMSEAQSKIRSSDKAELLHRRSSFNTPQSDQNETEENMTIGSLSRMLSEIHHSVESGMHPFVPLTRLSSSMQVKENSTPETITIREIFKAPCLQSSRNLESLVSTFSRESHEEINDICLFSDDCMKKVSRSHQALEKTSFVQKSNSSFHGLSTASDIMQKLSLRQKSAIFCQQIHENRADMDKSQVATLEEEQVHSQVKYADINLKEDIIKSEVPLQTEILKNKLKVNLPDPVSITAQSKLSQINSLENLIEQLRRELVFLRSQNEFLSRELIEKERDLERSRTVIAKFQNKLKELVEENKQLEEGMKEILQAIKEMQKDPDVKGGETSLIIPSLERLVNAIESKNAEGIFDASLHLKAQVDQLTGRNEELRQELRESRKEAINYSQQLAKANLKIDHLEKETSLLRQSEGSNVVFKGIDLPDGIAPSSASIINSQNEYLIHLLQELENKEKKLKNLEDSLEDYNRKFAVIRHQQSLLYKEYLSEKETWKTESKTIKEEKRKLEDQVQQDAIKVKEYNNLLNALQMDSDEMKKILAENSRKITVLQVNEKSLIRQYTTLVELERQLRKENEKQKNELLSMEAEVCEKIGCLQRFKEMAIFKIAALQKVVDNSVSLSELELANKQYNELTAKYRDILQKDNMLVQRTSNLEHLECENISLKEQVESINKELEITKEKLHTIEQAWEQETKLGNESSMDKAKKSITNSDIVSISKKITMLEMKELNERQRAEHCQKMYEHLRTSLKQMEERNFELETKFAELTKINLDAQKVEQMLRDELADSVSKAVSDADRQRILELEKNEMELKVEVSKLREISDIARRQVEILNAQQQSRDKEVESLRMQLLDYQAQSDEKSLIAKLHQHNVSLQLSEATALGKLESITSKLQKMEAYNLRLEQKLDEKEQALYYARLEGRNRAKHLRQTIQSLRRQFSGALPLAQQEKFSKTMIQLQNDKLKIMQEMKNSQQEHRNMENKTLEMELKLKGLEELISTLKDTKGAQKVINWHMKIEELRLQELKLNRELVKDKEEIKYLNNIISEYERTISSLEEEIVQQNKFHEERQMAWDQREVDLERQLDIFDRQQNEILNAAQKFEEATGSIPDPSLPLPNQLEIALRKIKENIRIILETRATCKSLEEKLKEKESALRLAEQNILSRDKVINELRLRLPATAEREKLIAELGRKEMEPKSHHTLKIAHQTIANMQARLNQKEEVLKKYQRLLEKAREEQREIVKKHEEDLHILHHRLELQADSSLNKFKQTAWDLMKQSPTPVPTNKHFIRLAEMEQTVAEQDDSLSSLLVKLKKVSQDLERQREITELKVKEFENIKLQLQENHEDEVKKVKAEVEDLKYLLDQSQKESQCLKSELQAQKEANSRAPTTTMRNLVERLKSQLALKEKQQKALSRALLELRAEMTAAAEERIISATSQKEAHLNVQQIVDRHTRELKTQVEDLNENLLKLKEALKTSKNRENSLTDNLNDLNNELQKKQKAYNKILREKEEIDQENDELKRQIKRLTSGLQGKPLTDNKQSLIEELQRKVKKLENQLEGKVEEVDLKPMKEKNAKEELIRWEEGKKWQAKIEGIRNKLKEKEGEVFTLTKQLNTLKDLFAKADKEKLTLQRKLKTTGMTVDQVLGIRALESEKELEELKKRNLDLENDILYMRAHQALPRDSVVEDLHLQNRYLQEKLHALEKQFSKDTYSKPSISGIESDDHCQREQELQKENLKLSSENIELKFQLEQANKDLPRLKNQVRDLKEMCEFLKKEKAEVQRKLGHVRGSGRSGKTIPELEKTIGLMKKVVEKVQRENEQLKKASGILTSEKMANIEQENEKLKAELEKLKAHLGHQLSMHYESKTKGTEKIIAENERLRKELKKETDAAEKLRIAKNNLEILNEKMTVQLEETGKRLQFAESRGPQLEGADSKSWKSIVVTRMYETKLKELETDIAKKNQSITDLKQLVKEATEREQKVNKYNEDLEQQIKILKHVPEGAETEQGLKRELQVLRLANHQLDKEKAELIHQIEANKDQSGAESTIPDADQLKEKIKDLETQLKMSDLEKQHLKEEIKKLKKELENFDPSFFEEIEDLKYNYKEEVKKNILLEEKVKKLSEQLGVELTSPVAASEEFEDEEESPVNFPIY", "length": 2735, "header": "tr|A0A6Q8PH78-1|A0A6Q8PH78_HUMAN Computationally mapped isoform of Centrosomal protein 290 OS=Homo sapiens OX=9606 GN=CEP290 PE=1 SV=1 CANONICAL=O15078-1" }, "locus": { "chromosome": "12", "start_pos": 88141307, "end_pos": 88049187, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000675833.1", "url": "https://www.ensembl.org/id/ENST00000675833.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000502559.1", "url": "https://www.ensembl.org/id/ENSP00000502559.1" } ] } }, { "isoform_ac": "F8VS29-1", "url": "", "sequence": { "sequence": "MPPNINWKEIMKVDPDDLPRQEELADNLLISLSKVEVNELKSEKQENVIHLFRITQSLMKMKAQEVELALEEVEKAGEEQAKFENQLKTKVMKLENELEMAQQSAGGRDTRFLRNEICQLEKQLEQKDRELEDMEKELEKEKKVNEQLALRNEEAENENSKLRRENKRLKKKNEQLCQDIIDYQKQIDSQKETLLSRRGEDSDYRSQLSKKNYELIQYLDEIQTLTEANEKIEVQNQEMRKNLEESVQEMEKMTDEYNRMKAIVHQTDNVIDQLKKENDHYQLQVQELTDLLKSKNEEDDPIMVAVNAKVEEWKLILSSKDDEIIEYQQMLHNLREKLKNAQLDADKSNVMALQQGIQERDSQIKMLTEQVEQYTKEMEKNTCIIEDLKNELQRNKGASTLSQQTHMKIQSTLDILKEKTKEAERTAELAEADAREKDKELVEALKRLKDYESGVYGLEDAVVEIKNCKNQIKIRDREIEILTKEINKLELKISDFLDENEALRERVGLEPKTMIDLTEFRNSKHLKQQQYRAENQILLKEIESLEEERLDLKKKIRQMAQERGKRSATSGLTTEDLNLTENISQGDRISERKLDLLSLKNMSEAQSKNEFLSRELIEKERDLERSRTVIAKFQNKCYRIKECRRNL", "length": 647, "header": "tr|F8VS29-1|F8VS29_HUMAN Computationally mapped isoform of Centrosomal protein 290 OS=Homo sapiens OX=9606 GN=CEP290 PE=1 SV=3 CANONICAL=O15078-1" }, "locus": { "chromosome": "12", "start_pos": 88141307, "end_pos": 88111827, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000676448.1", "url": "https://www.ensembl.org/id/ENST00000676448.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000501987.1", "url": "https://www.ensembl.org/id/ENSP00000501987.1" } ] } }, { "isoform_ac": "F8W097-1", "url": "", "sequence": { "sequence": "MPPNINWKEIMKVDPDDLPRQEELADNLLISLSKVEVNELKSEKQENVIHLFRITQSLMKMKAQEVELALEEVEKAGEEQAKFENQLKTKVMKLENELEMAQQSAGGRDTRFLRNEICQLEKQLEQKDRELEDMEKELEKEKKVNEQVKHFFFP", "length": 154, "header": "tr|F8W097-1|F8W097_HUMAN Computationally mapped isoform of Centrosomal protein 290 OS=Homo sapiens OX=9606 GN=CEP290 PE=1 SV=2 CANONICAL=O15078-1" }, "locus": { "chromosome": "12", "start_pos": 88141307, "end_pos": 88136622, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000675361.1", "url": "https://www.ensembl.org/id/ENST00000675361.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000502678.1", "url": "https://www.ensembl.org/id/ENSP00000502678.1" } ] } }, { "isoform_ac": "J3KNF5-1", "url": "", "sequence": { "sequence": "MPPNINWKEIMKVDPDDLPRQEELADNLLISLSKVEVNELKSEKQENVIHLFRITQSLMKMKAQEVELALEEVEKAGEEQAKFENQLKTKVMKLENELEMAQQSAGGRDTRFLRNEICQLEKQLEQKDRELEDMEKELEKEKKVNEQLALRNEEAENENSKLRRENKRLKKKNEQLCQDIIDYQKQIDSQKETLLSRRGEDSDYRSQLSKKNYELIQYLDEIQTLTEANEKIEVQNQEMRKNLEESVQEMEKMTDEYNRMKAIVHQTDNVIDQLKKENDHYQLQVQELTDLLKSKNEEDDPIMVAVNAKVEEWKLILSSKDDEIIEYQQMLHNLREKLKNAQLDADKSNVMALQQGIQERDSQIKMLTEQVEQYTKEMEKNTCIIEDLKNELQRNKGASTLSQQTHMKIQSTLDILKEKTKEAERTAELAEADAREKDKELVEALKRLKDYESGVYGLEDAVVEIKNCKNQIKIRDREIEILTKEINKLELKISDFLDENEALRERVGLEPKTMIDLTEFRNSKHLKQQQYRAENQILLKEIESLEEERLDLKKKIRQMAQERGKRSATSGLTTEDLNLTENISQGDRISERKLDLLSLKNMSEAQSKNEFLSRELIEKERDLERSRTVIAKFQNKLKELVEENKQLEEGMKEILQAIKEMQKDPDVKGGETSLIIPSLERLVNAIESKNAEGIFDASLHLKAQVDQLTGRNEELRQELRESRKEAINYSQQLAKANLKIDHLEKETSLLRQSEGSNVVFKGIDLPDGIAPSSASIINSQNEYLIHLLQELENKEKKLKNLEDSLEDYNRKFAVIRHQQSLLYKEYLSEKETWKTESKTIKEEKRKLEDQVQQDAIKVKEYNNLLNALQMDSDEMKKILAENSRKITVLQVNEKSLIRQYTTLVELERQLRKENEKQKNELLSMEAEVCEKIGCLQRFKEMAIFKIAALQKVVDNSVSLSELELANKQYNELTAKYRDILQKDNMLVQRTSNLEHLECENISLKEQVESINKELEITKEKLHTIEQAWEQETKLGNESSMDKAKKSITNSDIVSISKKITMLEMKELNERQRAEHCQKMYEHLRTSLKQMEERNFELETKFAELTKINLDAQKVEQMLRDELADSVSKAVSDADRQRILELEKNEMELKVEVSKLREISDIARRQVEILNAQQQSRDKEVESLRMQLLDYQAQSDEKSLIAKLHQHNVSLQLSEATALGKLESITSKLQKMEAYNLRLEQKLDEKEQALYYARLEGRNRAKHLRQTIQSLRRQFSGALPLAQQEKFSKTMIQLQNDKLKIMQEMKNSQQEHRNMENKTLEMELKLKGLEELISTLKDTKGAQKVINWHMKIEELRLQELKLNRELVKDKEEIKYLNNIISEYERTISSLEEEIVQQNKFHEERQMAWDQREVDLERQLDIFDRQQNEILNAAQKFEEATGSIPDPSLPLPNQLEIALRKIKENIRIILETRATCKSLEEKLKEKESALRLAEQNILSRDKVINELRLRLPATAEREKLIAELGRKEMEPKSHHTLKIAHQTIANMQARLNQKEEVLKKYQRLLEKAREEQREIVKKHEEDLHILHHRLELQADSSLNKFKQTAWDLMKQSPTPVPTNKHFIRLAEMEQTVAEQDDSLSSLLVKLKKVSQDLERQREITELKVKEFENIKLQLQENHEDEVKKVKAEVEDLKYLLDQSQKESQCLKSELQAQKEANSRAPTTTMRNLVERLKSQLALKEKQQKALSRALLELRAEMTAAAEERIISATSQKEAHLNVQQIVDRHTRELKTQVEDLNENLLKLKEALKTSKNRENSLTDNLNDLNNELQKKQKAYNKILREKEEIDQENDELKRQIKRLTSGLQGKPLTDNKQSLIEELQRKVKKLENQLEGKVEEVDLKPMKEKNAKEELIRWEEGKKWQAKIEGIRNKLKEKEGEVFTLTKQLNTLKDLFAKADKEKLTLQRKLKTTGMTVDQVLGIRALESEKELEELKKRNLDLENDILYMRAHQALPRDSVVEDLHLQNRYLQEKLHALEKQFSKDTYSKPSQNQISGIESDDHCQREQELQKENLKLSSENIELKFQLEQANKDLPRLKNQVRDLKEMCEFLKKEKAEVQRKLGHVRGSGRSGKTIPELEKTIGLMKKVVEKVQRENEQLKKASGILTSEKMANIEQENEKLKAELEKLKAHLGHQLSMHYESKTKGTEKIIAENERLRKELKKETDAAEKLRIAKNNLEILNEKMTVQLEETGKRLQFAESRGPQLEGADSKSWKSIVVTRMYETKLKELETDIAKKNQSITDLKQLVKEATEREQKVNKYNEDLEQQIKILKHVPEGAETEQGLKRELQVLRLANHQLDKEKAELIHQIEANKDQSGAESTIPDADQLKEKIKDLETQLKMSDLEKQHLKEEIKKLKKELENFDPSFFEEIEDLKYNYKEEVKKNILLEEKVKKLSEQLGVELTSPVAASEEFEDEEESPVNFPIY", "length": 2482, "header": "tr|J3KNF5-1|J3KNF5_HUMAN Computationally mapped isoform of Centrosomal protein 290 OS=Homo sapiens OX=9606 GN=CEP290 PE=1 SV=2 CANONICAL=O15078-1" }, "locus": { "chromosome": "12", "start_pos": 88141307, "end_pos": 88049187, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000309041.12", "url": "https://www.ensembl.org/id/ENST00000309041.12" }, { "database": "Ensembl Peptide", "id": "ENSP00000308021.8", "url": "https://www.ensembl.org/id/ENSP00000308021.8" } ] } }, { "isoform_ac": "O15078-1", "url": "", "sequence": { "sequence": "MPPNINWKEIMKVDPDDLPRQEELADNLLISLSKVEVNELKSEKQENVIHLFRITQSLMKMKAQEVELALEEVEKAGEEQAKFENQLKTKVMKLENELEMAQQSAGGRDTRFLRNEICQLEKQLEQKDRELEDMEKELEKEKKVNEQLALRNEEAENENSKLRRENKRLKKKNEQLCQDIIDYQKQIDSQKETLLSRRGEDSDYRSQLSKKNYELIQYLDEIQTLTEANEKIEVQNQEMRKNLEESVQEMEKMTDEYNRMKAIVHQTDNVIDQLKKENDHYQLQVQELTDLLKSKNEEDDPIMVAVNAKVEEWKLILSSKDDEIIEYQQMLHNLREKLKNAQLDADKSNVMALQQGIQERDSQIKMLTEQVEQYTKEMEKNTCIIEDLKNELQRNKGASTLSQQTHMKIQSTLDILKEKTKEAERTAELAEADAREKDKELVEALKRLKDYESGVYGLEDAVVEIKNCKNQIKIRDREIEILTKEINKLELKISDFLDENEALRERVGLEPKTMIDLTEFRNSKHLKQQQYRAENQILLKEIESLEEERLDLKKKIRQMAQERGKRSATSGLTTEDLNLTENISQGDRISERKLDLLSLKNMSEAQSKNEFLSRELIEKERDLERSRTVIAKFQNKLKELVEENKQLEEGMKEILQAIKEMQKDPDVKGGETSLIIPSLERLVNAIESKNAEGIFDASLHLKAQVDQLTGRNEELRQELRESRKEAINYSQQLAKANLKIDHLEKETSLLRQSEGSNVVFKGIDLPDGIAPSSASIINSQNEYLIHLLQELENKEKKLKNLEDSLEDYNRKFAVIRHQQSLLYKEYLSEKETWKTESKTIKEEKRKLEDQVQQDAIKVKEYNNLLNALQMDSDEMKKILAENSRKITVLQVNEKSLIRQYTTLVELERQLRKENEKQKNELLSMEAEVCEKIGCLQRFKEMAIFKIAALQKVVDNSVSLSELELANKQYNELTAKYRDILQKDNMLVQRTSNLEHLECENISLKEQVESINKELEITKEKLHTIEQAWEQETKLGNESSMDKAKKSITNSDIVSISKKITMLEMKELNERQRAEHCQKMYEHLRTSLKQMEERNFELETKFAELTKINLDAQKVEQMLRDELADSVSKAVSDADRQRILELEKNEMELKVEVSKLREISDIARRQVEILNAQQQSRDKEVESLRMQLLDYQAQSDEKSLIAKLHQHNVSLQLSEATALGKLESITSKLQKMEAYNLRLEQKLDEKEQALYYARLEGRNRAKHLRQTIQSLRRQFSGALPLAQQEKFSKTMIQLQNDKLKIMQEMKNSQQEHRNMENKTLEMELKLKGLEELISTLKDTKGAQKVINWHMKIEELRLQELKLNRELVKDKEEIKYLNNIISEYERTISSLEEEIVQQNKFHEERQMAWDQREVDLERQLDIFDRQQNEILNAAQKFEEATGSIPDPSLPLPNQLEIALRKIKENIRIILETRATCKSLEEKLKEKESALRLAEQNILSRDKVINELRLRLPATAEREKLIAELGRKEMEPKSHHTLKIAHQTIANMQARLNQKEEVLKKYQRLLEKAREEQREIVKKHEEDLHILHHRLELQADSSLNKFKQTAWDLMKQSPTPVPTNKHFIRLAEMEQTVAEQDDSLSSLLVKLKKVSQDLERQREITELKVKEFENIKLQLQENHEDEVKKVKAEVEDLKYLLDQSQKESQCLKSELQAQKEANSRAPTTTMRNLVERLKSQLALKEKQQKALSRALLELRAEMTAAAEERIISATSQKEAHLNVQQIVDRHTRELKTQVEDLNENLLKLKEALKTSKNRENSLTDNLNDLNNELQKKQKAYNKILREKEEIDQENDELKRQIKRLTSGLQGKPLTDNKQSLIEELQRKVKKLENQLEGKVEEVDLKPMKEKNAKEELIRWEEGKKWQAKIEGIRNKLKEKEGEVFTLTKQLNTLKDLFAKADKEKLTLQRKLKTTGMTVDQVLGIRALESEKELEELKKRNLDLENDILYMRAHQALPRDSVVEDLHLQNRYLQEKLHALEKQFSKDTYSKPSISGIESDDHCQREQELQKENLKLSSENIELKFQLEQANKDLPRLKNQVRDLKEMCEFLKKEKAEVQRKLGHVRGSGRSGKTIPELEKTIGLMKKVVEKVQRENEQLKKASGILTSEKMANIEQENEKLKAELEKLKAHLGHQLSMHYESKTKGTEKIIAENERLRKELKKETDAAEKLRIAKNNLEILNEKMTVQLEETGKRLQFAESRGPQLEGADSKSWKSIVVTRMYETKLKELETDIAKKNQSITDLKQLVKEATEREQKVNKYNEDLEQQIKILKHVPEGAETEQGLKRELQVLRLANHQLDKEKAELIHQIEANKDQSGAESTIPDADQLKEKIKDLETQLKMSDLEKQHLKEEIKKLKKELENFDPSFFEEIEDLKYNYKEEVKKNILLEEKVKKLSEQLGVELTSPVAASEEFEDEEESPVNFPIY", "length": 2479, "header": "sp|O15078-1|CE290_HUMAN Isoform 1 of Centrosomal protein of 290 kDa OS=Homo sapiens OX=9606 GN=CEP290 PE=1 SV=2 CANONICAL=O15078-1" }, "locus": { "chromosome": "12", "start_pos": 88141307, "end_pos": 88049187, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000552810.6", "url": "https://www.ensembl.org/id/ENST00000552810.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000448012.1", "url": "https://www.ensembl.org/id/ENSP00000448012.1" } ] } }, { "isoform_ac": "S4R322-1", "url": "", "sequence": { "sequence": "DHYQLQVQELTDLLKSKNEEDDPIMVAVNAKVEEWKLILSSKDDEIIEYQQMLHNLREKLKNAQLDADKSNVMALQQGIQERDSQIKMLTEQVEQYTKEMEKNTCIIEDLKNELQRNKGASTLSQQTHMKIQSTLDILKEKTKEAERTAELAEADAREKDKELVEALKRLKDYESGVYGLEDAVVEIKNCKNQIKIRDREIEILTKEINKLELKISDFLDENEALRERVGLEPKTMIDLTEFRNSKHLKQQQYRAENQILLKEIESLEEERLDLKKKIRQMAQERGKRSATSGLTTEDLNLTENISQGDRISERKLDLLSLKNMSEAQSKNEIIAQEFLIKEAECRNADIELEHHRSQAEQNEFLSRELIEKERDLERSRTVIAKFQNKLKELVEENKQLEEGMKEILQAIKEMQKDPDVKGGETSLIIPSLERLVNAIESKNAEGIFDASLHLKAQVDQLTGRNEELRQELRESRKEAINYSQQLAKANLKIDHLEKETSLLRQSEGSNVVFKGIDLPDGIAPSSASIINSQNEYLIHLLQELENKEKKLKNLEDSLEDYNRKFAVIRHQQSLLYKEYLSEKETWKTESKTIKEEKRKLEDQVQQDAIKVKEYNNLLNALQMDSDEMKKILAENSRKITVLQVNEKSLIRQYTTLVELERQLRKENEKQKNELLSMEAEVCEKIGCLQRFKEMAIFKIAALQKVVDNSVSLSELELANKQYNELTAKYRDILQKDNMLVQRTSNLEHLECENISLKEQVESINKELEITKEKLHTIEQAWEQETKLGNESSMDKAKKSITNSDIVSISKKITMLEMKELNERQRAEHCQKMYEHLRTSLKQMEERNFELETKFAEV", "length": 857, "header": "tr|S4R322-1|S4R322_HUMAN Computationally mapped isoform of Centrosomal protein 290 OS=Homo sapiens OX=9606 GN=CEP290 PE=1 SV=1 CANONICAL=O15078-1" }, "locus": { "chromosome": "12", "start_pos": 88129711, "end_pos": 88093767, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000604024.5", "url": "https://www.ensembl.org/id/ENST00000604024.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000473863.1", "url": "https://www.ensembl.org/id/ENSP00000473863.1" } ] } } ], "glycosylation": [], "phosphorylation": [ { "start_pos": 1697, "end_pos": 1697, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O15078", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15078" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "database": "phospho.ELM", "id": "O15078", "url": "http://phospho.elm.eu.org/byAccession/O15078.html" } ], "site_lbl": "Ser1697" }, { "start_pos": 2069, "end_pos": 2069, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O15078", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15078" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser2069" }, { "start_pos": 580, "end_pos": 580, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O15078", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15078" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr580" }, { "start_pos": 895, "end_pos": 895, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O15078", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15078" }, { "database": "PubMed", "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995" } ], "site_lbl": "Ser895" } ], "glycation": [], "keywords": [], "publication": [ { "title": "The centrosomal protein C-Nap1 is required for cell cycle-regulated centrosome cohesion.", "journal": "The Journal of cell biology", "date": "2000", "authors": "Mayor T, Stierhof YD, Tanaka K, Fry AM, Nigg EA", "evidence": [ { "database": "Reactome", "id": "R-HSA-380284", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-380284" } ], "reference": [ { "type": "PubMed", "id": "11076968", "url": "https://glygen.org/publication/PubMed/11076968" } ] }, { "title": "Serological detection of cutaneous T-cell lymphoma-associated antigens.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "2001", "authors": "Eichmuller S, Usener D, Dummer R, Stein A, Thiel D, Schadendorf D", "evidence": [ { "database": "UniProtKB", "id": "O15078", "url": "https://www.uniprot.org/uniprot/O15078" } ], "reference": [ { "type": "PubMed", "id": "11149944", "url": "https://glygen.org/publication/PubMed/11149944" } ] }, { "title": "Direct binding of NuMA to tubulin is mediated by a novel sequence motif in the tail domain that bundles and stabilizes microtubules.", "journal": "Journal of cell science", "date": "2002", "authors": "Haren L, Merdes A", "evidence": [ { "database": "Reactome", "id": "R-HSA-380320", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-380320" } ], "reference": [ { "type": "PubMed", "id": "11956313", "url": "https://glygen.org/publication/PubMed/11956313" } ] }, { "title": "Phosphorylation of threonine 210 and the role of serine 137 in the regulation of mammalian polo-like kinase.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Jang YJ, Ma S, Terada Y, Erikson RL", "evidence": [ { "database": "Reactome", "id": "R-HSA-2565942", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2565942" } ], "reference": [ { "type": "PubMed", "id": "12207013", "url": "https://glygen.org/publication/PubMed/12207013" } ] }, { "title": "Centrosomal proteins CG-NAP and kendrin provide microtubule nucleation sites by anchoring gamma-tubulin ring complex.", "journal": "Molecular biology of the cell", "date": "2002", "authors": "Takahashi M, Yamagiwa A, Nishimura T, Mukai H, Ono Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-380270", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-380270" } ], "reference": [ { "type": "PubMed", "id": "12221128", "url": "https://glygen.org/publication/PubMed/12221128" } ] }, { "title": "Nuclear translocation of plk1 mediated by its bipartite nuclear localization signal.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Taniguchi E, Toyoshima-Morimoto F, Nishida E", "evidence": [ { "database": "Reactome", "id": "R-HSA-2565942", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2565942" } ], "reference": [ { "type": "PubMed", "id": "12364337", "url": "https://glygen.org/publication/PubMed/12364337" } ] }, { "title": "Polo-like kinase 1 regulates Nlp, a centrosome protein involved in microtubule nucleation.", "journal": "Developmental cell", "date": "2003", "authors": "Casenghi M, Meraldi P, Weinhart U, Duncan PI, Korner R, Nigg EA", "evidence": [ { "database": "Reactome", "id": "R-HSA-380259", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-380259" } ], "reference": [ { "type": "PubMed", "id": "12852856", "url": "https://glygen.org/publication/PubMed/12852856" } ] }, { "title": "Aurora-A and an interacting activator, the LIM protein Ajuba, are required for mitotic commitment in human cells.", "journal": "Cell", "date": "2003", "authors": "Hirota T, Kunitoku N, Sasayama T, Marumoto T, Zhang D, Nitta M, Hatakeyama K, Saya H", "evidence": [ { "database": "Reactome", "id": "R-HSA-2565942", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2565942" } ], "reference": [ { "type": "PubMed", "id": "13678582", "url": "https://glygen.org/publication/PubMed/13678582" } ] }, { "title": "Structural basis of Aurora-A activation by TPX2 at the mitotic spindle.", "journal": "Molecular cell", "date": "2003", "authors": "Bayliss R, Sardon T, Vernos I, Conti E", "evidence": [ { "database": "Reactome", "id": "R-HSA-8854518", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8854518" } ], "reference": [ { "type": "PubMed", "id": "14580337", "url": "https://glygen.org/publication/PubMed/14580337" } ] }, { "title": "Proteomic characterization of the human centrosome by protein correlation profiling.", "journal": "Nature", "date": "2003", "authors": "Andersen Jens S, Wilkinson Christopher J, Mayor Thibault, Mortensen Peter, Nigg Erich A, Mann Matthias", "evidence": [ { "database": "UniProtKB", "id": "O15078", "url": "https://www.uniprot.org/uniprot/O15078" } ], "reference": [ { "type": "PubMed", "id": "14654843", "url": "https://glygen.org/publication/PubMed/14654843" } ] }, { "title": "XRHAMM functions in ran-dependent microtubule nucleation and pole formation during anastral spindle assembly.", "journal": "Current biology : CB", "date": "2004", "authors": "Groen AC, Cameron LA, Coughlin M, Miyamoto DT, Mitchison TJ, Ohi R", "evidence": [ { "database": "Reactome", "id": "R-HSA-8854518", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8854518" } ], "reference": [ { "type": "PubMed", "id": "15498487", "url": "https://glygen.org/publication/PubMed/15498487" } ] }, { "title": "Receptor for hyaluronan-mediated motility correlates with centrosome abnormalities in multiple myeloma and maintains mitotic integrity.", "journal": "Cancer research", "date": "2005", "authors": "Maxwell CA, Keats JJ, Belch AR, Pilarski LM, Reiman T", "evidence": [ { "database": "Reactome", "id": "R-HSA-8854518", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8854518" } ], "reference": [ { "type": "PubMed", "id": "15705883", "url": "https://glygen.org/publication/PubMed/15705883" } ] }, { "title": "Tectonic, a novel regulator of the Hedgehog pathway required for both activation and inhibition.", "journal": "Genes & development", "date": "2006", "authors": "Reiter JF, Skarnes WC", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912" } ], "reference": [ { "type": "PubMed", "id": "16357211", "url": "https://glygen.org/publication/PubMed/16357211" } ] }, { "title": "The PITSLRE/CDK11p58 protein kinase promotes centrosome maturation and bipolar spindle formation.", "journal": "EMBO reports", "date": "2006", "authors": "Petretti C, Savoian M, Montembault E, Glover DM, Prigent C, Giet R", "evidence": [ { "database": "Reactome", "id": "R-HSA-380270", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-380270" } ], "reference": [ { "type": "PubMed", "id": "16462731", "url": "https://glygen.org/publication/PubMed/16462731" } ] }, { "title": "Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome.", "journal": "Nature genetics", "date": "2006", "authors": "Valente EM, Silhavy JL, Brancati F, Barrano G, Krishnaswami SR, Castori M, Lancaster MA, Boltshauser E, Boccone L, Al-Gazali L, Fazzi E, Signorini S, Louie CM, Bellacchio E, Bertini E, Dallapiccola B, Gleeson JG", "evidence": [ { "database": "UniProtKB", "id": "O15078", "url": "https://www.uniprot.org/uniprot/O15078" } ], "reference": [ { "type": "PubMed", "id": "16682970", "url": "https://glygen.org/publication/PubMed/16682970" } ] }, { "title": "The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4.", "journal": "Nature genetics", "date": "2006", "authors": "Sayer JA, Otto EA, O'Toole JF, Nurnberg G, Kennedy MA, Becker C, Hennies HC, Helou J, Attanasio M, Fausett BV, Utsch B, Khanna H, Liu Y, Drummond I, Kawakami I, Kusakabe T, Tsuda M, Ma L, Lee H, Larson RG, Allen SJ, Wilkinson CJ, Nigg EA, Shou C, Lillo C, Williams DS, Hoppe B, Kemper MJ, Neuhaus T, Parisi MA, Glass IA, Petry M, Kispert A, Gloy J, Ganner A, Walz G, Zhu X, Goldman D, Nurnberg P, Swaroop A, Leroux MR, Hildebrandt F", "evidence": [ { "database": "UniProtKB", "id": "O15078", "url": "https://www.uniprot.org/uniprot/O15078" } ], "reference": [ { "type": "PubMed", "id": "16682973", "url": "https://glygen.org/publication/PubMed/16682973" } ] }, { "title": "Mitotic activation of the kinase Aurora-A requires its binding partner Bora.", "journal": "Developmental cell", "date": "2006", "authors": "Hutterer A, Berdnik D, Wirtz-Peitz F, Zigman M, Schleiffer A, Knoblich JA", "evidence": [ { "database": "Reactome", "id": "R-HSA-2565942", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2565942" } ], "reference": [ { "type": "PubMed", "id": "16890155", "url": "https://glygen.org/publication/PubMed/16890155" } ] }, { "title": "Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis.", "journal": "Am. J. Hum. Genet.", "date": "2006", "authors": "den Hollander Anneke I, Koenekoop Robert K, Yzer Suzanne, Lopez Irma, Arends Maarten L, Voesenek Krysta E J, Zonneveld Marijke N, Strom Tim M, Meitinger Thomas, Brunner Han G, Hoyng Carel B, van den Born L Ingeborgh, Rohrschneider Klaus, Cremers Frans P M", "evidence": [ { "database": "UniProtKB", "id": "O15078", "url": "https://www.uniprot.org/uniprot/O15078" } ], "reference": [ { "type": "PubMed", "id": "16909394", "url": "https://glygen.org/publication/PubMed/16909394" } ] }, { "title": "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.", "journal": "Cell", "date": "2006", "authors": "Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M", "evidence": [ { "database": "iPTMnet", "id": "O15078", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15078" } ], "reference": [ { "type": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ] }, { "title": "CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders.", "journal": "Am. J. Hum. Genet.", "date": "2007", "authors": "Brancati Francesco, Barrano Giuseppe, Silhavy Jennifer L, Marsh Sarah E, Travaglini Lorena, Bielas Stephanie L, Amorini Maria, Zablocka Dominika, Kayserili Hulya, Al-Gazali Lihadh, Bertini Enrico, Boltshauser Eugen, D'Hooghe Marc, Fazzi Elisa, Fenerci Elif Y, Hennekam Raoul C M, Kiss Andrea, Lees Melissa M, Marco Elysa, Phadke Shubha R, Rigoli Luciana, Romano Stephane, Salpietro Carmelo D, Sherr Elliott H, Signorini Sabrina, Stromme Petter, Stuart Bernard, Sztriha Laszlo, Viskochil David H, Yuksel Adnan, Dallapiccola Bruno, , Valente Enza Maria, Gleeson Joseph G", "evidence": [ { "database": "UniProtKB", "id": "O15078", "url": "https://www.uniprot.org/uniprot/O15078" } ], "reference": [ { "type": "PubMed", "id": "17564967", "url": "https://glygen.org/publication/PubMed/17564967" } ] }, { "title": "Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome.", "journal": "Am. J. Hum. Genet.", "date": "2007", "authors": "Baala Lekbir, Audollent Sophie, Martinovic J\u00e9l\u00e9na, Ozilou Catherine, Babron Marie-Claude, Sivanandamoorthy Sivanthiny, Saunier Sophie, Salomon R\u00e9mi, Gonzales Marie, Rattenberry Eleanor, Esculpavit Chantal, Toutain Annick, Moraine Claude, Parent Philippe, Marcorelles Pascale, Dauge Marie-Christine, Roume Jo\u00eblle, Le Merrer Martine, Meiner Vardiella, Meir Karen, Menez Fran\u00e7oise, Beaufr\u00e8re Anne-Marie, Francannet Christine, Tantau Julia, Sinico Martine, Dumez Yves, MacDonald Fiona, Munnich Arnold, Lyonnet Stanislas, Gubler Marie-Claire, G\u00e9nin Emmanuelle, Johnson Colin A, Vekemans Michel, Encha-Razavi F\u00e9recht\u00e9, Atti\u00e9-Bitach Tania", "evidence": [ { "database": "UniProtKB", "id": "O15078", "url": "https://www.uniprot.org/uniprot/O15078" } ], "reference": [ { "type": "PubMed", "id": "17564974", "url": "https://glygen.org/publication/PubMed/17564974" } ] }, { "title": "A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis.", "journal": "Cell", "date": "2007", "authors": "Nachury MV, Loktev AV, Zhang Q, Westlake CJ, Peranen J, Merdes A, Slusarski DC, Scheller RH, Bazan JF, Sheffield VC, Jackson PK", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912" } ], "reference": [ { "type": "PubMed", "id": "17574030", "url": "https://glygen.org/publication/PubMed/17574030" } ] }, { "title": "Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior-Loken syndrome.", "journal": "J. Med. 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Genet.", "date": "2015", "authors": "Alby Caroline, Piquand Kevin, Huber C\u00e9line, Megarban\u00e9 Andr\u00e9, Ichkou Amale, Legendre Marine, Pelluard Fanny, Encha-Ravazi Ferecht\u00e9, Abi-Tayeh Georges, Bessi\u00e8res Bettina, El Chehadeh-Djebbar Salima, Laurent Nicole, Faivre Laurence, Sztriha L\u00e1szl\u00f3, Zombor Melinda, Szab\u00f3 Hajnalka, Failler Marion, Garfa-Traore Meriem, Bole Christine, Nitschk\u00e9 Patrick, Nizon Mathilde, Elkhartoufi Nadia, Clerget-Darpoux Fran\u00e7oise, Munnich Arnold, Lyonnet Stanislas, Vekemans Michel, Saunier Sophie, Cormier-Daire Val\u00e9rie, Atti\u00e9-Bitach Tania, Thomas Sophie", "evidence": [ { "database": "UniProtKB", "id": "O15078", "url": "https://www.uniprot.org/uniprot/O15078" } ], "reference": [ { "type": "PubMed", "id": "26166481", "url": "https://glygen.org/publication/PubMed/26166481" } ] }, { "title": "Joubert Syndrome in French Canadians and Identification of Mutations in CEP104.", "journal": "American journal of human genetics", "date": "2015", "authors": "Srour M, Hamdan FF, McKnight D, Davis E, Mandel H, Schwartzentruber J, Martin B, Patry L, Nassif C, Dionne-Laporte A, Ospina LH, Lemyre E, Massicotte C, Laframboise R, Maranda B, Labuda D, Decarie JC, Rypens F, Goldsher D, Fallet-Bianco C, Soucy JF, Laberge AM, Maftei C, Boycott K, Brais B, Boucher RM, Rouleau GA, Katsanis N, Majewski J, Elpeleg O, Kukolich MK, Shalev S, Michaud JL", "evidence": [ { "database": "UniProtKB", "id": "O15078", "url": "https://www.uniprot.org/uniprot/O15078" } ], "reference": [ { "type": "PubMed", "id": "26477546", "url": "https://glygen.org/publication/PubMed/26477546" } ] }, { "title": "The centriolar satellite protein CCDC66 interacts with CEP290 and functions in cilium formation and trafficking.", "journal": "J. Cell Sci.", "date": "2017", "authors": "Conkar D, Culfa E, Odabasi E, Rauniyar N, Yates JR 3rd, Firat-Karalar EN", "evidence": [ { "database": "UniProtKB", "id": "O15078", "url": "https://www.uniprot.org/uniprot/O15078" } ], "reference": [ { "type": "PubMed", "id": "28235840", "url": "https://glygen.org/publication/PubMed/28235840" } ] }, { "title": "Meckel syndrome: Clinical and mutation profile in six fetuses.", "journal": "Clinical genetics", "date": "2019", "authors": "Radhakrishnan P, Nayak SS, Shukla A, Lindstrand A, Girisha KM", "evidence": [ { "database": "UniProtKB", "id": "O15078", "url": "https://www.uniprot.org/uniprot/O15078" } ], "reference": [ { "type": "PubMed", "id": "31411728", "url": "https://glygen.org/publication/PubMed/31411728" } ] }, { "title": "Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndrome.", "journal": "J. Clin. Invest.", "date": "2020", "authors": "Latour BL, Van De Weghe JC, Rusterholz TD, Letteboer SJ, Gomez A, Shaheen R, Gesemann M, Karamzade A, Asadollahi M, Barroso-Gil M, Chitre M, Grout ME, van Reeuwijk J, van Beersum SE, Miller CV, Dempsey JC, Morsy H, Bamshad MJ, Nickerson DA, Neuhauss SC, Boldt K, Ueffing M, Keramatipour M, Sayer JA, Alkuraya FS, Bachmann-Gagescu R, Roepman R, Doherty D", "evidence": [ { "database": "UniProtKB", "id": "O15078", "url": "https://www.uniprot.org/uniprot/O15078" } ], "reference": [ { "type": "PubMed", "id": "32453716", "url": "https://glygen.org/publication/PubMed/32453716" } ] }, { "title": "CEP104 and CEP290; Genes with Ciliary Functions Cause Intellectual Disability in Multiple Families.", "journal": "Archives of Iranian medicine", "date": "2021", "authors": "Khoshbakht S, Beheshtian M, Fattahi Z, Bazazzadegan N, Parsimehr E, Fadaee M, Vazehan R, Faraji Zonooz M, Abolhassani A, Makvand M, Kariminejad A, Celik A, Kahrizi K, Najmabadi H", "evidence": [ { "database": "UniProtKB", "id": "O15078", "url": "https://www.uniprot.org/uniprot/O15078" } ], "reference": [ { "type": "PubMed", "id": "34196201", "url": "https://glygen.org/publication/PubMed/34196201" } ] }, { "title": "Clinical and molecular features of a Chinese cohort with syndromic and nonsyndromic retinal dystrophies related to the CEP290 gene.", "journal": "American journal of ophthalmology", "date": "2022-12-06", "authors": "Zhu Tian, Shen Yue, Sun Zixi, Han Xiaoxu, Wei Xing, Li Wuyi, Lu Chao, Cheng Tingting, Zou Xuan, Li Hui, Cao Zongfu, Gao Huafang, Ma Xu, Luo Minna, Sui Ruifang", "evidence": [ { "database": "RefSeq", "id": "NP_079390", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_079390" } ], "reference": [ { "type": "PubMed", "id": "36493848", "url": "https://glygen.org/publication/PubMed/36493848" } ] }, { "title": "Alternative splicing in CEP290 mutant cats results in a milder phenotype than LCACEP290 patients.", "journal": "Veterinary ophthalmology", "date": "2022-12-09", "authors": "Minella Andrea L, Narfstr\u00f6m Wiechel Kristina, Petersen-Jones Simon M", "evidence": [ { "database": "RefSeq", "id": "NP_079390", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_079390" } ], "reference": [ { "type": "PubMed", "id": "36495011", "url": "https://glygen.org/publication/PubMed/36495011" } ] }, { "title": "Mutation of the predicted p34cdc2 phosphorylation sites in NuMA impair the assembly of the mitotic spindle and block mitosis.", "journal": "Journal of cell science", "date": "1995", "authors": "Compton DA, Luo C", "evidence": [ { "database": "Reactome", "id": "R-HSA-380320", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-380320" } ], "reference": [ { "type": "PubMed", "id": "7769006", "url": "https://glygen.org/publication/PubMed/7769006" } ] }, { "title": "Cell cycle regulation of the activity and subcellular localization of Plk1, a human protein kinase implicated in mitotic spindle function.", "journal": "The Journal of cell biology", "date": "1995", "authors": "Golsteyn RM, Mundt KE, Fry AM, Nigg EA", "evidence": [ { "database": "Reactome", "id": "R-HSA-380270", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-380270" } ], "reference": [ { "type": "PubMed", "id": "7790358", "url": "https://glygen.org/publication/PubMed/7790358" } ] }, { "title": "Targeting of proteins to granule subsets is determined by timing and not by sorting: The specific granule protein NGAL is localized to azurophil granules when expressed in HL-60 cells.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1996", "authors": "Le Cabec V, Cowland JB, Calafat J, Borregaard N", "evidence": [ { "database": "Reactome", "id": "R-HSA-6798695", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6798695" } ], "reference": [ { "type": "PubMed", "id": "8692836", "url": "https://glygen.org/publication/PubMed/8692836" } ] }, { "title": "Dynamic changes of NuMA during the cell cycle and possible appearance of a truncated form of NuMA during apoptosis.", "journal": "Journal of cell science", "date": "1996", "authors": "Hsu HL, Yeh NH", "evidence": [ { "database": "Reactome", "id": "R-HSA-380320", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-380320" } ], "reference": [ { "type": "PubMed", "id": "8838651", "url": "https://glygen.org/publication/PubMed/8838651" } ] } ], "pathway": [ { "id": "hsa:80184", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:80184", "resource": "KEGG Pathway" }, { "id": "R-HSA-2565942", "name": "Regulation of PLK1 Activity at G2/M Transition", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2565942", "resource": "Reactome", "description": "Regulation of PLK1 Activity at G2/M Transition" }, { "id": "R-HSA-380259", "name": "Loss of Nlp from mitotic centrosomes", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-380259", "resource": "Reactome", "description": "Loss of Nlp from mitotic centrosomes" }, { 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"MPPNIKWKELIKVDPDDLPRQEELADKLLISLSKVEVNELKNEDQENMIHLFRITQSLMKMKAQEVELALEEVEKAGEEQAKFENQLKTKVMKLENELEMAQQSAGGRDTRFLRDEIRQLEKQLEQKDRELEDMEKELDKEKKVNEQLALRNEEAENENSKLRRENEQLRQDIIDYQKQIDSQKESLLSRRGEDSDYRSQLSKKNYELVQYLDEIQTLTEANEKIEVQNQEMRKNLEESVQEMEKMTDEYNRMKALVHQSDAVMDQIKKENEHYRLQVRELTDLLKAKDEEDDPVMMAVNAKVEEWKLILSSKDDEIIEYQQMLQSLRGKLKNAQLDADKSNIMALKQGIQERDSQIKMLTEQVEQYTKEMEKNTFIIEDLKNELQKDKGTSNFYQQTHYMKIHSKVQILEEKTKEAERIAELAEADAREKDKELVEALKRLKDYESGVYGLEDAVIEIKNCKAQIKIRDGEMEVLTKEINKLEMKINDILDENEALRERAGLEPKTMIDLTEFRNSKRLKQQQYRAENQVLLKEIESLEEERLDLKRKIRQMAQERGKRNAASGLTIDDLNLSETFSHENKIEGRKLNFMSLNNMNETQSKNEFLSRELAEKEKDLERSRTVIAKFQSKLKELVEENKQLEEGMKEILQAIKDMPKDSDVKGGETSLIIPSLERLVNAMESKNAEGIFDASLHLKAQVDQLTGRNEELRQELRQSRKEAVNYSQQLVKANLKIDHLEKETDLLRQSAGSNVVYKGIDLPDGIAPSSAYIINSQNEYLIHLLQELDNKEKKLKHLEDSLEDYNRKFAVIRHQQSLLYKEYLSEKDIWKTDSEMIREEKRKLEDQAEQDAVKVKEYNNLLSALQMDSNEMKKMLSENSRKITVLQVNEKSLIRQYTTLVEMERHLRKENGKHRNDVIAMEAEVTEKLGSLQRFKEMAIFKIAALQKVIDNSVSLSELELANKQYNELTTKYRDILQKDNMLVQRTSNLEHLECENASLKEQMEAISKELEITKEKLHTIEQAWEQETKLGNDSNMDKAKKSMTNSDIVSISKKITVLEMKELNERQRAEHCQKMYEHLRTSLKQMEERNFELETKFTELTKINLDAQKVEQMLRDELADSVTKAVSDADRQRILELEKSEVELKVEVSKLREISDIAKRQVDFLNSQQQSREKEVESLRTQLLDFQAQSDEKALIAKLHQHVVSLQISEATALGKLESVTSKLQKMEAYNLRLEQKLDEKEQALYYARLEGRNRAKHLRQTIQSLRRQFSGALPLAQQEKFSKTMIQLQNDKLKIMQEMKNSQQEHRNMENKTLELELKLKGLEELISTLKDARGAQKVINWHVKIEELRLQELKLNRELVKGKEEIKYLNNIISEYEHTINSLEEEIVQQSKFHEERQMAWDQREVELERQLDIFDHQQNEILSAAQKFEDSTGSMPDPSLPLPNQLEIALRKIKENIQVILKTQATCKSLEEKLKEKESALRLAEQNILSRDKVINELRLRLPATADREKLIAELERKELEPKSHHTMKIAHQTIANMQARLNHKEEVLKKYQHLLEKAREEQREIVKKHEEDLHVLHHKLEQQADNSLNKFRQTAQDLLKQSPAPVPTNKHFIRLAEMEQTVAEQDDSLSSLLTKLKKVSKDLEKQKEITELKVREFENTKLRLQETHASEVKKVKAEVEDLRHALAQAHKDSQSLKSELQAQKEANSRAPTTTMRNLVDRLKSQLALKEKQQKALSRALLELRSEMTAAAEERIIAVTSQKEANLNVQQVVERHTRELKSQIEDLNENLLKLKEALKTSKNKENSLADDLNELNNELQKKQKAYNKILREKDGIDQENDELRRQIKRLSSGLQSKTLIDNKQSLIDELQKKVKKLESQLERKVDDVDIKPVKEKSSKEELIRWEEGKKWQTKVEGLRNRLKEKEGEAHGLAKQLNTLKELFAKADKEKLTLQKKLKTTGMTVDQVLGVRALESEKELEELKKKNLDLENDILYMRTQQALPRDSVVEDLHLQNKYLQEKLHTLEKKLSKEKYSQSLTSEIESDDHCQKEQELQKENLKLSSENIELKFQLEQANKDLPRLKNQVKDLKEMCEFLKKGKLELERKLGQVRGAGRSGKTIPELEKTIGLMKKVVEKVQRENEQLKKASGILTSEKMATIEEENRNLKAELEKLKAHFGRQLSMQFESKNKGTEKIVAENERLRKELKKEIEASEKLRIAKNNLELVNDKMAAQLEETGKRLQFAESRAPQLEGADSKSWKSIVVSRVYETKMKELESDIAKKNQSITDLKQLVREATEREQKAKKYTEDLEQQIEILKNVPEGAETEQELIRELQLLRLANNQMDKERAELIHQIEINKDQTRADSSIPDSDQLKEKINDLETQLRKLELEKQHSKEEVKKLKKELENFDPSFFEEIEDLKYNYKEEVKKNILLEEKLKKLSEQFGFELPSPLAASEHSEDGESPHSFPIY", "length": 2472 }, "evidence": [ { "id": "45925795", "url": "http://www.informatics.jax.org/homology/45925795", "database": "MGI" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 16, "go_terms": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "O15078", "url": "https://www.uniprot.org/uniprot/O15078" } ], "pmid": "" }, { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "O15078", "url": "https://www.uniprot.org/uniprot/O15078" } ], "pmid": "" }, { "name": "cell projection", "id": "GO:0042995", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042995", "evidence": [ { "database": "UniProtKB", "id": "O15078", "url": "https://www.uniprot.org/uniprot/O15078" } ], "pmid": "" }, { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "O15078", "url": "https://www.uniprot.org/uniprot/O15078" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "O15078", "url": "https://www.uniprot.org/uniprot/O15078" } ], "pmid": "" }, { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "O15078", "url": "https://www.uniprot.org/uniprot/O15078" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "O15078", "url": "https://www.uniprot.org/uniprot/O15078" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "O15078", "url": 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