{ "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": [], "glycation": [], "keywords": [], "species": [ { "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 } ], "mutation": [ { "sequence_org": "L", "start_pos": 286, "subjects_positive": "30", "disease": [ { "synonyms": [], "recommended_name": { "id": "1324", "url": "http://disease-ontology.org/term/DOID:1324", "resource": "Disease Ontology", "name": "lung cancer", "description": "" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2CJ06", "id": "A2CJ06", "database": "BioMuta" } ], "frequency": "2.0", "sequence_mut": "F", "subjects_tested": "1514", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 286, "annotation": "Somatic mutation passed 2 out of 6 filters: patient freq. (2.0%); patient count (30/1514)." }, { "sequence_org": "R", "start_pos": 149, "subjects_positive": "2", "disease": [ { "synonyms": [ { "id": "2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "Hematologic malignancy", "description": "" }, { "id": "2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "Hematologic neoplasm", "description": "" }, { "id": "2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "Hematological tumors", "description": "" }, { "id": "2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "blood cancer", "description": "" }, { "id": "2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "hematopoietic cancer", "description": "" }, { "id": "2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "hematopoietic neoplasm", "description": "" }, { "id": "2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "hematopoietic tumors", "description": "" }, { "id": "2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "malignant hematopoietic neoplasm", "description": "" } ], "recommended_name": { "id": "2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "hematologic cancer", "description": "" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2CJ06", "id": "A2CJ06", "database": "BioMuta" } ], "frequency": "1.6", "sequence_mut": "G", "subjects_tested": "125", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 149, "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (1.6%)." }, { "sequence_org": "L", "start_pos": 379, "subjects_positive": "1", "disease": [ { "synonyms": [ { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid neoplasm", "description": "" } ], "recommended_name": { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid gland cancer", "description": "" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2CJ06", "id": "A2CJ06", "database": "BioMuta" } ], "frequency": "2.0", "sequence_mut": "P", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 379, "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%)." }, { "sequence_org": "P", "start_pos": 189, "subjects_positive": "1", "disease": [ { "synonyms": [], "recommended_name": { "id": "1324", "url": "http://disease-ontology.org/term/DOID:1324", "resource": "Disease Ontology", "name": "lung cancer", "description": "" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2CJ06", "id": "A2CJ06", "database": "BioMuta" } ], "frequency": "1.5", "sequence_mut": "T", "subjects_tested": "66", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 189, "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (1.5%)." } ], "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/get_linkdb?-t+pathway+hsa:391475", "resource": "KEGG Pathway", "id": "hsa:391475", "name": "" } ], "function": [], "orthologs": [], "interactions": [], "synthesized_glycans": [], "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": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2CJ06", "id": "A2CJ06", "database": "UniProtKB" } ], "name": "plasma membrane", "id": "GO:0005886" } ], "total": 1, "name": "Cellular Component" } ] }, "gene_names": [ { "type": "synonym", "resource": "refseq", "name": "DYTN" }, { "type": "recommended", "resource": "uniprotkb", "name": "DYTN" } ], "crossref": [ { "url": "http://pfam.xfam.org/family/PF09069", "id": "PF09069", "database": "Pfam" }, { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2CJ06", "id": "A2CJ06", "database": "BioMuta" }, { "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://omabrowser.org/oma/group/SWVQSEP/", "id": "SWVQSEP", "database": "OMA" }, { "url": "https://www.nextprot.org/entry/NX_A2CJ06", "id": "NX_A2CJ06", "database": "neXtProt" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001087199.1", "id": "NP_001087199.1", "database": "RefSeq" }, { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:391475", "id": "hsa:391475", "database": "KEGG Pathway" }, { "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=DYTN", "id": "DYTN", "database": "GeneCards" }, { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000232125", "id": "ENSG00000232125", "database": "Bgee" }, { "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=23279", "id": "23279", "database": "HGNC" }, { "url": "http://www.orthodb.org/?query=598837at2759", "id": "598837at2759", "database": "OrthoDB" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR015154", "id": "IPR015154", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR015153", "id": "IPR015153", "database": "InterPro" }, { "url": "http://pfam.xfam.org/family/PF09068", "id": "PF09068", "database": "Pfam" }, { "url": "http://pfam.xfam.org/family/PF00569", "id": "PF00569", "database": "Pfam" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR000433", "id": "IPR000433", "database": "InterPro" }, { "url": "https://www.ncbi.nlm.nih.gov/gene/391475", "id": "391475", "database": "GeneID" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR011992", "id": "IPR011992", "database": "InterPro" }, { "url": "http://www.omim.org/entry/618510", "id": "618510", "database": "MIM" } ], "expression_disease": [ { "name": "Thyroid gland cancer [DO disease name]", "trend": "Up", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid gland cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A2CJ06", "id": "A2CJ06", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:1781", "significant": "No" }, { "name": "Prostate cancer [DO disease name]", "trend": "Up", "disease": { "doid": "10283", "url": "http://disease-ontology.org/term/DOID:10283", "icd10": "", "name": "Prostate cancer" }, "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": "Liver cancer [DO disease name]", "trend": "Down", "disease": { "doid": "3571", "url": "http://disease-ontology.org/term/DOID:3571", "icd10": "", "name": "Liver cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A2CJ06", "id": "A2CJ06", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:3571", "significant": "No" }, { "name": "Lung adenocarcinoma [DO disease name]", "trend": "Up", "disease": { "doid": "3910", "url": "http://disease-ontology.org/term/DOID:3910", "icd10": "", "name": "Lung adenocarcinoma" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A2CJ06", "id": "A2CJ06", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:3910", "significant": "No" }, { "name": "Lung squamous cell carcinoma [DO disease name]", "trend": "Up", "disease": { "doid": "3907", "url": "http://disease-ontology.org/term/DOID:3907", "icd10": "", "name": "Lung squamous cell carcinoma" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A2CJ06", "id": "A2CJ06", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:3907", "significant": "No" }, { "name": "Urinary bladder cancer [DO disease name]", "trend": "Up", "disease": { "doid": "11054", "url": "http://disease-ontology.org/term/DOID:11054", "icd10": "", "name": "Urinary bladder cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A2CJ06", "id": "A2CJ06", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:11054", "significant": "No" } ], "glycosylation": [], "disease": [], "phosphorylation": [], "mass": { "monoisotopic_mass": 65320.0, "chemical_mass": 65320.0 }, "expression_tissue": [ { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001161", "uberon": "0001161", "name": "Body of stomach" }, "present": "yes", "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_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_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_0000178", "uberon": "0000178", "name": "Blood" }, "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_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_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_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_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_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_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_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_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_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_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_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_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_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_0001255", "uberon": "0001255", "name": "Urinary bladder" }, "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_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_0000458", "uberon": "0000458", "name": "Endocervix" }, "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" } ] } } ], "protein_names": [ { "type": "recommended", "resource": "uniprotkb", "name": "Dystrotelin" }, { "type": "synonym", "resource": "refseq", "name": "dystrotelin" } ] }