{ "uniprot_canonical_ac": "A2CJ06-1", "ptm_annotation": [], "sequence": { "header": "sp|A2CJ06-1|DYTN_HUMAN Isoform 1 of Dystrotelin OS=Homo sapiens OX=9606 GN=DYTN PE=2 SV=1 CANONICAL=A2CJ06-1", "length": 578, "sequence": "MDPDKQDALNSIENSIYRTAFKLQSVQTLCQLDLIDSSLIQQVLLRPSFWEARKHSLSVQQLSQALQELFQKAREENPGQVHPRAPELTLSLLTTMYNSKGTGFLQLMPAAAALITLSGDSPLSKYRALFQLYAENSRGGYDSGPRMTRRVLRKLLTDLQQIPTFVGESRALCPVESATRSCFQGVLSPAIKEEKFLSWVQSEPPILLWLPTCHRLSAAERVTHPARCTLCRTFPITGLRYRCLKCLNFDICQMCFLSGLHSKSHQKSHPVIEHCIQMSAMQNTKLLFRTLRNNLLQGRCRKKEAARRQQLLDQVNPKGVPHHAQARLLKKQLNQYKDKLQAIYTSQEERICRFETRIHKLKTNQDSLWTKLQQIRRDLQARLQPPGPSSSSFQNVGNKVDHSSTEKVPKGGDYLQIKNATEDASTGEPLPKLDEVDRSHRSHTNAEHALRNPESPETTLHSTRAQSQTQKMPQKVISALPSYQEGLKQDIPKMVPAEMSSPALAAVEKKEAGNIKERKDELEEEELQELLSKLMDAFNLETPSGPESSVNMDLYSGAQRVCRAFSALVDQIALPNLK" }, "uniprot_id": "DYTN_HUMAN", "enzyme_annotation": [], "glycation": [], "keywords": [], "species": [ { "common_name": "Human", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2CJ06", "id": "A2CJ06", "database": "UniProtKB" } ], "name": "Homo sapiens", "taxid": 9606 } ], "publication": [ { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/17233888", "type": [ "PubMed" ], "id": "17233888" } ], "title": "The dystrotelin, dystrophin and dystrobrevin superfamily: new paralogues and old isoforms.", "journal": "BMC Genomics", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2CJ06", "id": "A2CJ06", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001087199.1", "id": "NP_001087199.1", "database": "RefSeq" } ], "authors": "Tan S., Boehm S., Jin H., Sharpe P.T., Roberts R.G., Greener M.J., Hermanowski J., Hinits Y., Hughes S.M., McCauley J.M., Pacheco S.", "date": "2007" } ], "uniprot_ac": "A2CJ06", "site_annotation": [ { "end_pos": 421, "annotation": "n_glycosylation_sequon", "start_pos": 419 } ], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A2CJ06#A0A590UJG6-1", "isoform_ac": "A0A590UJG6-1", "locus": { "end_pos": 206704969, "strand": "+", "start_pos": 206707502, "chromosome": "2", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000477734", "id": "ENST00000477734", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000499411", "id": "ENSP00000499411", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|A0A590UJG6-1|DYTN_HUMAN Computationally mapped isoform of Dystrotelin OS=Homo sapiens OX=9606 GN=DYTN PE=2 SV=1 CANONICAL=A2CJ06-1", "length": 117, "sequence": "XDLIDSSLIQQVLLRPSFWEARKHSLSVQQLSQALQELFQKAREENPGQVHPRAPELTLSLLTTMYNSKGTGFLQLMPAAAALITLSGDSPLSKYRATKRLLLQSKYSSKIHCKYSI" } }, { "url": "https://www.uniprot.org/uniprot/A2CJ06#A2CJ06-1", "isoform_ac": "A2CJ06-1", "locus": { "end_pos": 206651821, "strand": "+", "start_pos": 206718279, "chromosome": "2", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000452335", "id": "ENST00000452335", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000396593", "id": "ENSP00000396593", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A2CJ06-1|DYTN_HUMAN Isoform 1 of Dystrotelin OS=Homo sapiens OX=9606 GN=DYTN PE=2 SV=1 CANONICAL=A2CJ06-1", "length": 578, "sequence": "MDPDKQDALNSIENSIYRTAFKLQSVQTLCQLDLIDSSLIQQVLLRPSFWEARKHSLSVQQLSQALQELFQKAREENPGQVHPRAPELTLSLLTTMYNSKGTGFLQLMPAAAALITLSGDSPLSKYRALFQLYAENSRGGYDSGPRMTRRVLRKLLTDLQQIPTFVGESRALCPVESATRSCFQGVLSPAIKEEKFLSWVQSEPPILLWLPTCHRLSAAERVTHPARCTLCRTFPITGLRYRCLKCLNFDICQMCFLSGLHSKSHQKSHPVIEHCIQMSAMQNTKLLFRTLRNNLLQGRCRKKEAARRQQLLDQVNPKGVPHHAQARLLKKQLNQYKDKLQAIYTSQEERICRFETRIHKLKTNQDSLWTKLQQIRRDLQARLQPPGPSSSSFQNVGNKVDHSSTEKVPKGGDYLQIKNATEDASTGEPLPKLDEVDRSHRSHTNAEHALRNPESPETTLHSTRAQSQTQKMPQKVISALPSYQEGLKQDIPKMVPAEMSSPALAAVEKKEAGNIKERKDELEEEELQELLSKLMDAFNLETPSGPESSVNMDLYSGAQRVCRAFSALVDQIALPNLK" } } ], "pathway": [ { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:391475", "resource": "KEGG Pathway", "id": "hsa:391475", "name": "" } ], "function": [], "orthologs": [ { "uniprot_canonical_ac": "A2CI98-1", "protein_name": "Dystrotelin", "sequence": { "length": 653, "sequence": "MDPSKQGTLNRVENSVYRTAFKLRSVQTLCQLDLMDSFLIQQVLWRGRSGESTETSISVQQLFQELRELFQRTGMGNAAQVHPRAPELTLSLLMAMFDRTGSGILKRQPVAAALVALSGDSPLTKYRAFFQLYAEKNRRGDDSQARMTRRVLRALLTDLQQIPTVVGESYTLRPVESAIHSCFRGVLSSGIKEEKFLSWAQSEPLVLLWLPTCYRLSAAETVTHPVRCSVCRTFPIIGLRYHCLKCLDFDICELCFLSGLHKNSHEKSHTVMEECVQMSATENTKLLFRSLRNNLPQKRQRVGAVGRQWLLDQLASRDSASHGPARLCLQYKCPKAPGYASSRRAVETAATGVLCQRPSPALQGNHNRHGQTIVNIKNELWRTRDSLNTLLRERRLLRKQLHRYKQKLQGTYALQEEQNCRFETKIRELTTNQDNLWTKLQQMRRDLQAMLQPLHPSSSPQTTASKIFHSLPDDGIRRGGDSSHIKRVTRDGPEWELLPNSAKVDRKHKCQASSGKALPDSEPQEIILQSTRKQNHPQKMLSKVHSSPSAHQQDTLQIPPTEVKIPAQTLSAGKEMESCSEKRNNLEDEELQALLPRLLDAFDLDSPTGLQPLMDMELYGRAQQVCRAFSVLVDQITLPTWSEEESRLKGPLV" }, "evidence": [ { "url": "https://omabrowser.org/oma/group/A2CJ06/", "id": "A2CJ06", "database": "OMA" }, { "url": "http://www.informatics.jax.org/homology/104042", "id": "104042", "database": "MGI" } ], "common_name": "Mouse", "organism": "Mus musculus", "tax_id": 10090 }, { "uniprot_canonical_ac": "F1M5J7-1", "protein_name": "Dystrotelin", "sequence": { "length": 654, "sequence": "DKNKQGALNRIENSVYRTAFKLRSIQTLCQLDLMSSSLIQQVLWHEHLGEVTVTSISVQQLFQELRELFQRTGMGSPVQVHPRAPELTLSLLMAMFDRTGSGILKLQPVAAALVALSGDSPLTKYRALFQLYAENNRRGDESQARMTRRVLRALLTDLQQIPTVVGESCSLCPVESAIHSCFRGVLSFGIKEEKFLSWAQSEPLVFLWLPTCYRLSASETVTHPVRCSVCRSFPIIGLRYRCLKCLDFDICELCFLSGLHKNHQKSHTVMEDCVQMSATENTKLLFRSLRNNLPLRHHRAGAVGRQWLLDQLASGDSGSSHGQARLCIQYKGPKTPVYASSAGAVETAATERTRFLCQRSSPALQAIDSPHRQTVVNIKNELWRTRDSVNALHRERRFLRKQLQRYKHKLQGTYTLQENQNCRFETKIRELTINQDNLWTKLQQMRRDLQAMLQPPRPSSPQTTVLKIVHSLPDDGLWRGGNSSHIKSVTRDSPEWEPLPNSAKVNRKHKCQASSGKVPPDSESPEIIFQSTSKQSHPQKMPREVHSSPSARQEELQDSLQIPPTEVSSPTQTPGKEMDCFSEKRNDLEDEELQELLPRLLDAFSLDSSTGPQPLVDVELYGRAEQVCRAFSALVDQVTLPWSKKKSRLKGPLV" }, "evidence": [ { "url": "https://omabrowser.org/oma/group/A2CJ06/", "id": "A2CJ06", "database": "OMA" } ], "common_name": "Rat", "organism": "Rattus norvegicus", "tax_id": 10116 } ], "interactions": [], "synthesized_glycans": [], "snv": [ { "sequence_org": "L", "start_pos": 286, "alt_nt": "A", "chr_id": "2", "ref_nt": "G", "chr_pos": "207558023", "disease": [ { "synonyms": [], "recommended_name": { "id": "DOID:1324", "url": "http://disease-ontology.org/term/DOID:1324", "resource": "Disease Ontology", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2CJ06", "id": "A2CJ06", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "2.0", "sequence_mut": "F", "subjects_tested": "1514", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 2 out of 6 filters: patient freq. (2.0%); patient count (30/1514).", "end_pos": 286, "minor_allelic_frequency": "", "subjects_positive": "30" }, { "sequence_org": "R", "start_pos": 149, "alt_nt": "C", "chr_id": "2", "ref_nt": "G", "chr_pos": "207569605", "disease": [ { "synonyms": [ { "id": "DOID:2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "malignant hematopoietic neoplasm", "description": "" } ], "recommended_name": { "id": "DOID:2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2CJ06", "id": "A2CJ06", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "1.6", "sequence_mut": "G", "subjects_tested": "125", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (1.6%).", "end_pos": 149, "minor_allelic_frequency": "", "subjects_positive": "2" }, { "sequence_org": "P", "start_pos": 189, "alt_nt": "T", "chr_id": "2", "ref_nt": "G", "chr_pos": "207564605", "disease": [ { "synonyms": [], "recommended_name": { "id": "DOID:1324", "url": "http://disease-ontology.org/term/DOID:1324", "resource": "Disease Ontology", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2CJ06", "id": "A2CJ06", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "1.5", "sequence_mut": "T", "subjects_tested": "66", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (1.5%).", "end_pos": 189, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "L", "start_pos": 379, "alt_nt": "G", "chr_id": "2", "ref_nt": "A", "chr_pos": "207530598", "disease": [ { "synonyms": [ { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid neoplasm", "description": "" } ], "recommended_name": { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid gland cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2CJ06", "id": "A2CJ06", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "2.0", "sequence_mut": "P", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%).", "end_pos": 379, "minor_allelic_frequency": "", "subjects_positive": "1" } ], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.oma", "label": "OMA Homologs" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "refseq": { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001087199.1", "ac": "NP_001087199.1", "name": "dystrotelin", "summary": "This gene belongs to the dystrophin superfamily, which is characterized by the presence of four EF-hand motifs and a ZZ-domain. It is a likely ortholog of the Drosophila 'discontinuous actin hexagon' gene. It is noteworthy that the coding region of this gene lacks two coding exons that are found in the mouse ortholog. Human transcripts including these two exons are subject to nonsense-mediated transcript decay (NMD). On the other hand, transcripts skipping the two coding exons are expressed at very low levels. While this gene maintains an intact CDS, it may be an evolving pseudogene. However, after a discussion about this gene within the RefSeq group, as well as in the consensus coding sequence (CCDS) collaboration, it was decided to keep it as a protein-coding gene in the RefSeq, Ensembl-GENCODE and the CCDS sets. [provided by RefSeq, Jul 2019]." }, "go_annotation": { "categories": [ { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2CJ06", "id": "A2CJ06", "database": "UniProtKB" } ], "name": "zinc ion binding", "id": "GO:0008270" } ], "total": 1, "name": "Molecular Function" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "pmid": "21873635", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2CJ06", "id": "A2CJ06", "database": "UniProtKB" } ], "name": "plasma membrane", "id": "GO:0005886" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2CJ06", "id": "A2CJ06", "database": "UniProtKB" } ], "name": "synapse", "id": "GO:0045202" } ], "total": 2, "name": "Cellular Component" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099536", "pmid": "21873635", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2CJ06", "id": "A2CJ06", "database": "UniProtKB" } ], "name": "synaptic signaling", "id": "GO:0099536" } ], "total": 1, "name": "Biological Process" } ] }, "gene_names": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/A2CJ06", "type": "synonym", "resource": "RefSeq", "name": "DYTN" }, { "url": "https://www.uniprot.org/uniprot/A2CJ06", "type": "recommended", "resource": "UniProtKB", "name": "DYTN" } ], "pro_annotation": [], "crossref": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000232125", "id": "ENSG00000232125", "database": "Bgee" }, { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2CJ06", "id": "A2CJ06", "database": "BioMuta" }, { "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=DYTN", "id": "DYTN", "database": "GeneCards" }, { "url": "https://www.ncbi.nlm.nih.gov/gene/391475", "id": "391475", "database": "GeneID" }, { "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=23279", "id": "23279", "database": "HGNC" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR000433", "id": "IPR000433", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR011992", "id": "IPR011992", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR015153", "id": "IPR015153", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR015154", "id": "IPR015154", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR043145", "id": "IPR043145", "database": "InterPro" }, { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:391475", "id": "hsa:391475", "database": "KEGG Pathway" }, { "url": "http://www.omim.org/entry/618510", "id": "618510", "database": "MIM" }, { "url": "https://www.nextprot.org/entry/NX_A2CJ06", "id": "NX_A2CJ06", "database": "neXtProt" }, { "url": "https://omabrowser.org/oma/group/SWVQSEP/", "id": "SWVQSEP", "database": "OMA" }, { "url": "http://www.orthodb.org/?query=598837at2759", "id": "598837at2759", "database": "OrthoDB" }, { "url": "http://pfam.xfam.org/family/PF00569", "id": "PF00569", "database": "Pfam" }, { "url": "http://pfam.xfam.org/family/PF09068", "id": "PF09068", "database": "Pfam" }, { "url": "http://pfam.xfam.org/family/PF09069", "id": "PF09069", "database": "Pfam" }, { "url": "https://pharos.nih.gov/targets/A2CJ06", "id": "A2CJ06", "database": "PHAROS" }, { "url": "http://research.bioinformatics.udel.edu/pro/entry/PR_A2CJ06", "id": "PR_A2CJ06", "database": "PRO" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001087199.1", "id": "NP_001087199.1", "database": "RefSeq" } ], "expression_disease": [ { "name": "Prostate cancer [DO disease name]", "trend": "Up", "disease": [ { "synonyms": [ { "id": "DOID:10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "tumor of the prostate", "description": "" } ], "recommended_name": { "id": "DOID:10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A2CJ06", "id": "A2CJ06", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:10283", "significant": "Yes" }, { "name": "Urinary bladder cancer [DO disease name]", "trend": "Up", "disease": [ { "synonyms": [ { "id": "DOID:11054", "url": "http://disease-ontology.org/term/DOID:11054", "resource": "Disease Ontology", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "url": "http://disease-ontology.org/term/DOID:11054", "resource": "Disease Ontology", "name": "tumor of the bladder", "description": "" } ], "recommended_name": { "id": "DOID:11054", "url": 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