{ "uniprot_canonical_ac": "A2CJ06-1", "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": [], "synonyms": { "protein": { "refseq": [ "dystrotelin" ], "uniprotkb": [ "Dystrotelin" ] }, "gene": { "refseq": [ "DYTN" ], "uniprotkb": [ "DYTN" ] } }, "keywords": [], "species": [ { "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2CJ06", "id": "A2CJ06", "database": "UniProtKB" } ], "name": "Homo sapiens", "taxid": 9606 } ], "recommendedname": { "full": "Dystrotelin." }, "publication": [ { "title": "The dystrotelin, dystrophin and dystrobrevin superfamily: new paralogues and old isoforms.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/17233888", "journal": "BMC genomics", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001087199.1", "id": "NP_001087199.1", "database": "RefSeq" }, { "url": "https://www.uniprot.org/uniprot/A2CJ06/publications", "id": "A2CJ06", "database": "UniProtKB" } ], "authors": "Jin H, Tan S, Hermanowski J, Bohm S, Pacheco S, McCauley JM, Greener MJ, Hinits Y, Hughes SM, Sharpe PT, Roberts RG", "date": "2007", "pmid": "17233888" } ], "glycosylation": [], "mutation": [ { "start_pos": 286, "subjects_positive": "30", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2CJ06", "id": "A2CJ06", "database": "BioMuta" } ], "frequency": "2.0", "annotation": "Filters passed (2/5): patient freq. (2.0%); patient count (30/1514).", "sequence_org": "L", "disease": { "doid": "1324", "url": "http://disease-ontology.org/term/DOID:1324", "icd10": "", "name": "Lung cancer" }, "sequence_mut": "F", "subjects_tested": "1514", "end_pos": 286, "type": "Point mutation" }, { "start_pos": 379, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2CJ06", "id": "A2CJ06", "database": "BioMuta" } ], "frequency": "2.0", "annotation": "Filters passed (1/5): patient freq. (2.0%).", "sequence_org": "L", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "P", "subjects_tested": "50", "end_pos": 379, "type": "Point mutation" }, { "start_pos": 189, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2CJ06", "id": "A2CJ06", "database": "BioMuta" } ], "frequency": "1.5", "annotation": "Filters passed (1/5): patient freq. (1.5%).", "sequence_org": "P", "disease": { "doid": "1324", "url": "http://disease-ontology.org/term/DOID:1324", "icd10": "", "name": "Lung cancer" }, "sequence_mut": "T", "subjects_tested": "66", "end_pos": 189, "type": "Point mutation" }, { "start_pos": 149, "subjects_positive": "2", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2CJ06", "id": "A2CJ06", "database": "BioMuta" } ], "frequency": "1.6", "annotation": "Filters passed (1/5): patient freq. (1.6%).", "sequence_org": "R", "disease": { "doid": "2531", "url": "http://disease-ontology.org/term/DOID:2531", "icd10": "", "name": "Hematologic cancer" }, "sequence_mut": "G", "subjects_tested": "125", "end_pos": 149, "type": "Point mutation" } ], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A2CJ06#A2CJ06-1", "isoform_ac": "A2CJ06-1", "locus": { "end_pos": 206651821, "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/www_bget?hsa:391475", "resource": "KEGG Pathway", "id": "hsa:391475", "name": "" } ], "function": [], "orthologs": [ { "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" } ], "organism": "Rattus norvegicus", "tax_id": 10116 }, { "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" } ], "organism": "Mus musculus", "tax_id": 10090 } ], "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", "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", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2CJ06", "id": "A2CJ06", "database": "UniProtKB" } ], "name": "plasma membrane", "id": "GO:0005886" } ], "total": 1, "name": "Cellular Component" } ] }, "site_annotation": [ { "end_pos": 421, "annotation": "n_glycosylation_sequon", "start_pos": 419 } ], "crossref": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001087199.1", "id": "NP_001087199.1", "database": "RefSeq" }, { "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=23279", "id": "23279", "database": "HGNC" }, { "url": "https://pharos.nih.gov/targets/A2CJ06", "id": "A2CJ06", "database": "PHAROS" }, { "url": "https://www.nextprot.org/entry/NX_A2CJ06", "id": "NX_A2CJ06", "database": "neXtProt" }, { "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=DYTN", "id": "DYTN", "database": "GeneCards" }, { "url": "https://www.genome.jp/dbget-bin/www_bget?hsa:391475", "id": "hsa:391475", "database": "KEGG Pathway" }, { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000232125", "id": "ENSG00000232125", "database": "Bgee" }, { "url": "https://omabrowser.org/oma/group/SWVQSEP/", "id": "SWVQSEP", "database": "OMA" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR011992", "id": "IPR011992", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR000433", "id": "IPR000433", "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": "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": "http://research.bioinformatics.udel.edu/pro/entry/PR_A2CJ06", "id": "PR_A2CJ06", "database": "PRO" }, { "url": "https://www.ncbi.nlm.nih.gov/gene/391475", "id": "391475", "database": "GeneID" } ], "expression_disease": [ { "trend": "Up", "disease": { "doid": "10283", "url": "http://disease-ontology.org/term/DOID:10283", "icd10": "", "name": "DOID:10283 / Prostate cancer [PCa]" }, "significant": "Yes", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A2CJ06", "id": "A2CJ06", "database": "BioXpress" } ] }, { "trend": "Up", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "DOID:1781 / Thyroid cancer [Thyca]" }, "significant": "No", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A2CJ06", "id": "A2CJ06", "database": "BioXpress" } ] }, { "trend": "Up", "disease": { "doid": "3910", "url": "http://disease-ontology.org/term/DOID:3910", "icd10": "", "name": "DOID:3910 / Lung adenocarcinoma" }, "significant": "No", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A2CJ06", "id": "A2CJ06", "database": "BioXpress" } ] }, { "trend": "Up", "disease": { "doid": "3907", "url": "http://disease-ontology.org/term/DOID:3907", "icd10": "", "name": "DOID:3907 / Lung squamous cell carcinoma" }, "significant": "No", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A2CJ06", "id": "A2CJ06", "database": "BioXpress" } ] }, { "trend": "Down", "disease": { "doid": "3571", "url": "http://disease-ontology.org/term/DOID:3571", "icd10": "", "name": "DOID:3571 / Liver cancer [Livca]" }, "significant": "No", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A2CJ06", "id": "A2CJ06", "database": "BioXpress" } ] }, { "trend": "Up", "disease": { "doid": "11054", "url": "http://disease-ontology.org/term/DOID:11054", "icd10": "", "name": "DOID:11054 / Urinary bladder cancer [UBC]" }, "significant": "No", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A2CJ06", "id": "A2CJ06", "database": "BioXpress" } ] } ], "uniprot_ac": "A2CJ06", "disease": [], "mass": { "monoisotopic_mass": 65320.0, "chemical_mass": 65320.0 }, "expression_tissue": [ { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0009853", "uberon": "0009853", "name": "Body of uterus" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000232125", "id": "ENSG00000232125", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000458", "uberon": "0000458", "name": "Endocervix" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000232125", "id": "ENSG00000232125", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000948", "uberon": "0000948", "name": "Heart" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000232125", "id": "ENSG00000232125", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000473", "uberon": "0000473", "name": "Testis" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000232125", "id": "ENSG00000232125", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002369", "uberon": "0002369", "name": "Adrenal gland" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000232125", "id": "ENSG00000232125", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000992", "uberon": "0000992", "name": "Ovary" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000232125", "id": "ENSG00000232125", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000996", "uberon": "0000996", "name": "Vagina" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000232125", "id": "ENSG00000232125", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001155", "uberon": "0001155", "name": "Colon" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000232125", "id": "ENSG00000232125", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001987", "uberon": "0001987", "name": "Placenta" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000232125", "id": "ENSG00000232125", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000955", "uberon": "0000955", "name": "Brain" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000232125", "id": "ENSG00000232125", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001160", "uberon": "0001160", "name": "Fundus of stomach" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000232125", "id": "ENSG00000232125", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001150", "uberon": "0001150", "name": "Body of pancreas" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000232125", "id": "ENSG00000232125", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002048", "uberon": "0002048", "name": "Lung" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000232125", "id": "ENSG00000232125", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000007", "uberon": "0000007", "name": "Pituitary gland" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000232125", "id": "ENSG00000232125", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002107", "uberon": "0002107", "name": "Liver" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000232125", "id": "ENSG00000232125", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002046", "uberon": "0002046", "name": "Thyroid gland" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000232125", "id": "ENSG00000232125", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000178", "uberon": "0000178", "name": "Blood" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000232125", "id": "ENSG00000232125", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001043", "uberon": "0001043", "name": "Esophagus" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000232125", "id": "ENSG00000232125", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002367", "uberon": "0002367", "name": "Prostate gland" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000232125", "id": "ENSG00000232125", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001161", "uberon": "0001161", "name": "Body of stomach" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000232125", "id": "ENSG00000232125", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001255", "uberon": "0001255", "name": "Urinary bladder" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000232125", "id": "ENSG00000232125", "database": "Bgee" } ] } ], "gene": [ { "url": "https://www.uniprot.org/uniprot/A2CJ06", "name": "DYTN.", "locus": { "end_pos": 206651621, "start_pos": 206718396, "chromosome": "2", "evidence": [ { "url": "https://www.ensembl.org/id/ENSG00000232125", "id": "ENSG00000232125", "database": "Ensembl Gene" } ] } } ] }