{ "uniprot_canonical_ac": "P13805-1", "uniprot_ac": "P13805", "uniprot_id": "TNNT1_HUMAN", "mass": { "chemical_mass": 32948.0, "monoisotopic_mass": 32948.0 }, "refseq": { "ac": "NP_001119604", "name": "troponin T, slow skeletal muscle isoform b", "summary": "This gene encodes a protein that is a subunit of troponin, which is a regulatory complex located on the thin filament of the sarcomere. This complex regulates striated muscle contraction in response to fluctuations in intracellular calcium concentration. This complex is composed of three subunits: troponin C, which binds calcium, troponin T, which binds tropomyosin, and troponin I, which is an inhibitory subunit. This protein is the slow skeletal troponin T subunit. Mutations in this gene cause nemaline myopathy type 5, also known as Amish nemaline myopathy, a neuromuscular disorder characterized by muscle weakness and rod-shaped, or nemaline, inclusions in skeletal muscle fibers which affects infants, resulting in death due to respiratory insufficiency, usually in the second year. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001119604" }, "gene_names": [ { "name": "TNNT1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P13805", "id": "P13805" }, { "name": "ANM; NEM5; STNT; TNT; TNTS", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001119604", "id": "NP_001119604" }, { "name": "TNNT1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001119604", "id": "NP_001119604" }, { "name": "TNT", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P13805", "id": "P13805" } ], "protein_names": [ { "name": "Troponin T, slow skeletal muscle", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P13805" }, { "name": "Slow skeletal muscle troponin T", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P13805" }, { "name": "TnTs", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P13805" }, { "name": "sTnT", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P13805" }, { "name": "troponin T, slow skeletal muscle isoform b", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001119604", "id": "NP_001119604" }, { "name": "troponin-T1, skeletal, slow; troponin T type 1 (skeletal, slow); slow skeletal muscle troponin T", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001119604", "id": "NP_001119604" } ], "function": [ { "annotation": "Slow skeletal muscle troponin T acts as a potential prognostic biomarker and therapeutic target for hepatocellular carcinoma.", "evidence": [ { "database": "RefSeq", "id": "NP_001119604", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001119604" }, { "database": "PubMed", "id": "36871674", "url": "https://glygen.org/publication/PubMed/36871674" } ] }, { "annotation": "TNNT1 myopathy with novel compound heterozygous mutations.", "evidence": [ { "database": "RefSeq", "id": "NP_001119604", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001119604" }, { "database": "PubMed", "id": "35165004", "url": "https://glygen.org/publication/PubMed/35165004" } ] }, { "annotation": "This gene encodes a protein that is a subunit of troponin, which is a regulatory complex located on the thin filament of the sarcomere. This complex regulates striated muscle contraction in response to fluctuations in intracellular calcium concentration. This complex is composed of three subunits: troponin C, which binds calcium, troponin T, which binds tropomyosin, and troponin I, which is an inhibitory subunit. This protein is the slow skeletal troponin T subunit. Mutations in this gene cause nemaline myopathy type 5, also known as Amish nemaline myopathy, a neuromuscular disorder characterized by muscle weakness and rod-shaped, or nemaline, inclusions in skeletal muscle fibers which affects infants, resulting in death due to respiratory insufficiency, usually in the second year. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_001119604", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001119604" } ] }, { "annotation": "Troponin T is the tropomyosin-binding subunit of troponin, the thin filament regulatory complex which confers calcium-sensitivity to striated muscle actomyosin ATPase activity.", "evidence": [ { "database": "UniProtKB", "id": "K7ELB0", "url": "https://www.uniprot.org/uniprot/K7ELB0#function" }, { "database": "UniProtKB", "id": "ARBA00003363", "url": "https://www.uniprot.org/uniprot/ARBA00003363#function" }, { "database": "UniProtKB", "id": "Q3B759", "url": "https://www.uniprot.org/uniprot/Q3B759#function" }, { "database": "UniProtKB", "id": "K7EQL4", "url": "https://www.uniprot.org/uniprot/K7EQL4#function" }, { "database": "UniProtKB", "id": "P13805", "url": "https://www.uniprot.org/uniprot/P13805#function" }, { "database": "UniProtKB", "id": "M0QZU8", "url": "https://www.uniprot.org/uniprot/M0QZU8#function" }, { "database": "UniProtKB", "id": "M0QZY5", "url": "https://www.uniprot.org/uniprot/M0QZY5#function" }, { "database": "UniProtKB", "id": "M0QX01", "url": "https://www.uniprot.org/uniprot/M0QX01#function" }, { "database": "UniProtKB", "id": "K7EKM3", "url": "https://www.uniprot.org/uniprot/K7EKM3#function" }, { "database": "UniProtKB", "id": "M0QY38", "url": "https://www.uniprot.org/uniprot/M0QY38#function" } ] }, { "annotation": "WiTNNess: An international natural history study of infantile-onset TNNT1 myopathy.", "evidence": [ { "database": "RefSeq", "id": "NP_001119604", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001119604" }, { "database": "PubMed", "id": "37632133", "url": "https://glygen.org/publication/PubMed/37632133" } ] } ], "disease": [ { "disease_id": "DOID:0081374", "recommended_name": { "id": "DOID:0081374", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0081374", "name": "nemaline myopathy 5B", "description": "A nemaline myopathy that has_material_basis_in autosomal recessive inheritance of a homozygous or compound heterozygous mutation in the TNNT1 gene on chromosome 19q13, with childhood onset." }, "synonyms": [ { "id": "MONDO:0957281", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0957281", "name": "nemaline myopathy 5B, autosomal recessive, childhood-onset", "description": "" }, { "id": "MIM:620386", "resource": "MIM", "url": "https://www.omim.org/entry/620386", "name": "Nemaline myopathy 5B, autosomal recessive, childhood-onset", "description": "Nemaline myopathy 5B, autosomal recessive, childhood-onset" } ], "evidence": [ { "id": "620386", "database": "MIM", "url": "https://www.omim.org/entry/620386" } ] }, { "disease_id": "DOID:0081375", "recommended_name": { "id": "DOID:0081375", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0081375", "name": "nemaline myopathy 5C", "description": "A nemaline myopathy that has_material_basis_in autosomal dominant inheritance of a homozygous or compound heterozygous mutation in the TNNT1 gene on chromosome 19q13." }, "synonyms": [ { "id": "MONDO:0957284", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0957284", "name": "nemaline myopathy 5C, autosomal dominant", "description": "" }, { "id": "MIM:620389", "resource": "MIM", "url": "https://www.omim.org/entry/620389", "name": "Nemaline myopathy 5C, autosomal dominant", "description": "Nemaline myopathy 5C, autosomal dominant" } ], "evidence": [ { "id": "620389", "database": "MIM", "url": "https://www.omim.org/entry/620389" } ] }, { "disease_id": "DOID:0110936", "recommended_name": { "id": "DOID:0110936", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110936", "name": "nemaline myopathy 5A", "description": "A nemaline myopathy that has_material_basis_in autosomal recessive inheritance of a homozygous mutation in the TNNT1 gene on chromosome 19q13, with infantile onset." }, "synonyms": [ { "id": "DOID:0110936", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110936", "name": "ANM", "description": "" }, { "id": "DOID:0110936", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110936", "name": "Amish nemaline myopathy", "description": "" }, { "id": "DOID:0110936", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110936", "name": "NEM5", "description": "" }, { "id": "DOID:0110936", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110936", "name": "nemaline myopathy 5, Amish type", "description": "" }, { "id": "MONDO:0011539", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011539", "name": "nemaline myopathy 5", "description": "Amish nemaline myopathy is a type of nemaline myopathy (NM) only observed in several families of the Amish community." }, { "id": "MONDO:0011539", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011539", "name": "ANM", "description": "" }, { "id": "MONDO:0011539", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011539", "name": "Amish nemaline myopathy", "description": "" }, { "id": "MONDO:0011539", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011539", "name": "NEM5", "description": "" }, { "id": "MONDO:0011539", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011539", "name": "TNNT1 nemaline myopathy", "description": "" }, { "id": "MONDO:0011539", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011539", "name": "nemaline myopathy 5", "description": "" }, { "id": "MONDO:0011539", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011539", "name": "nemaline myopathy 5, Amish type", "description": "" }, { "id": "MONDO:0011539", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011539", "name": "nemaline myopathy caused by mutation in TNNT1", "description": "" }, { "id": "MONDO:0011539", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011539", "name": "nemaline myopathy type 5", "description": "" }, { "id": "MONDO:0011539", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011539", "name": "nemaline myopathy, Amish type", "description": "" }, { "id": "MONDO:0011539", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011539", "name": "nemaline myopathy, caused by mutation in the troponin t1 gene", "description": "" }, { "id": "MIM:605355", "resource": "MIM", "url": "https://www.omim.org/entry/605355", "name": "Nemaline myopathy 5A, autosomal recessive, severe infantile", "description": "Nemaline myopathy 5A, autosomal recessive, severe infantile" } ], "evidence": [ { "id": "605355", "database": "MIM", "url": "https://www.omim.org/entry/605355" } ] } ], "snv": [ { "evidence": [ { "id": "P13805", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P13805" } ], "glycoeffect": [], "start_pos": 39, "end_pos": 39, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "55145557", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R39", "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", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": 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"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": "P13805", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P13805" } ], "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", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "P13805", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P13805" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "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 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"MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "P13805", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P13805" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "P13805", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P13805" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine 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"resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "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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"MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "P13805", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P13805" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "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 in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast 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": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P13805", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P13805" } ], "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": "P13805", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P13805" } ], "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": "P13805", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P13805" } ], "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", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P13805" } ], "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "P13805", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P13805" } ], "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": 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"Protein" ] }, { "id": "K7EQL4-1", "url": "https://www.uniprot.org/uniprot/K7EQL4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "M0QX01", "url": "https://www.uniprot.org/uniprot/M0QX01", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "M0QX01-1", "url": "https://www.uniprot.org/uniprot/M0QX01-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "M0QY38", "url": "https://www.uniprot.org/uniprot/M0QY38", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "M0QY38-1", "url": "https://www.uniprot.org/uniprot/M0QY38-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "M0QZU8", "url": "https://www.uniprot.org/uniprot/M0QZU8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "M0QZU8-1", "url": "https://www.uniprot.org/uniprot/M0QZU8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "M0QZY5", "url": "https://www.uniprot.org/uniprot/M0QZY5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "M0QZY5-1", "url": "https://www.uniprot.org/uniprot/M0QZY5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P13805", "url": "https://www.uniprot.org/uniprot/P13805", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P13805-1", "url": "https://www.uniprot.org/uniprot/P13805-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P13805-2", "url": "https://www.uniprot.org/uniprot/P13805-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P13805-3", "url": "https://www.uniprot.org/uniprot/P13805-3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q3B759", "url": "https://www.uniprot.org/uniprot/Q3B759", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q3B759-1", "url": "https://www.uniprot.org/uniprot/Q3B759-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MSDTEEQEYEEEQPEEEAAEEEEEAPEEPEPVAEPEEERPKPSRPVVPPLIPPKIPEGERVDFDDIHRKRMEKDLLELQTLIDVHFEQRKKEEEELVALKERIERRRSERAEQQRFRTEKERERQAKLAEEKMRKEEEEAKKRAEDDAKKKKVLSNMGAHFGGYLVKAEQKRGKRQTGREMKVRILSERKKPLDIDYMGEEQLRARSAWLPPSQPSCPAREKAQELSDWIHQLESEKFDLMAKLKQQKYEINVLYNRISHAQKFRKGAGKGRVGGRWK", "length": 278, "header": "sp|P13805-1|TNNT1_HUMAN Isoform 1 of Troponin T, slow skeletal muscle OS=Homo sapiens OX=9606 GN=TNNT1 PE=1 SV=4 CANONICAL=P13805-1" }, "isoforms": [ { "isoform_ac": "K7EKB5-1", "url": "", "sequence": { "sequence": "XEPVAEPEEERPKPSPPQLGPSTFRSLPGLAATSLDGTSRRWEVAQGGRATHGLCVSVHSAAPWCLL", "length": 67, "header": "tr|K7EKB5-1|TNNT1_HUMAN Computationally mapped isoform of Troponin T, slow skeletal muscle OS=Homo sapiens OX=9606 GN=TNNT1 PE=1 SV=2 CANONICAL=P13805-1" }, "locus": { "chromosome": "19", "start_pos": 55146454, "end_pos": 55141900, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000587089.6", "url": "https://www.ensembl.org/id/ENST00000587089.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000465544.2", "url": "https://www.ensembl.org/id/ENSP00000465544.2" } ] } }, { "isoform_ac": "K7EKM3-1", "url": "", "sequence": { "sequence": "XRTEKERERQAKLAEEKMRKEEEEAKKRAEDDAKKKKVLSNMGAHFGGYLVKAEQKRGKRQTGREMKVRILSERKKPLDIDYMGEEQLREKAQELSDWIHQLESEKFDLMAKLKQQKYEINVLYNRISHAQKFRKGAGKGRVGGRWK", "length": 147, "header": "tr|K7EKM3-1|K7EKM3_HUMAN Computationally mapped isoform of Troponin T, slow skeletal muscle OS=Homo sapiens OX=9606 GN=TNNT1 PE=1 SV=2 CANONICAL=P13805-1" }, "locus": { "chromosome": "19", "start_pos": 55140922, "end_pos": 55132916, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000589745.5", "url": "https://www.ensembl.org/id/ENST00000589745.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000465686.2", "url": "https://www.ensembl.org/id/ENSP00000465686.2" } ] } }, { "isoform_ac": "K7ELB0-1", "url": "", "sequence": { "sequence": "MRRSSRKRRLRRRRRKKERERQAKLAEEKMRKEEEEAKKRAEDDAKKKKVLSNMGAHFGGYLVKAEQKRGKRQTGREMKVRILSERKKPLDIDYMGEEQLREKAQELSDWIHQLESEKFDLMAKLKQQKYEINVLYNRISHAQKFRKGAGKGRVGGRWK", "length": 159, "header": "tr|K7ELB0-1|K7ELB0_HUMAN Computationally mapped isoform of Troponin T, slow skeletal muscle OS=Homo sapiens OX=9606 GN=TNNT1 PE=1 SV=1 CANONICAL=P13805-1" }, "locus": { "chromosome": "19", "start_pos": 55147132, "end_pos": 55132918, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000588426.5", "url": "https://www.ensembl.org/id/ENST00000588426.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000465991.1", "url": "https://www.ensembl.org/id/ENSP00000465991.1" } ] } }, { "isoform_ac": "K7EQL4-1", "url": "", "sequence": { "sequence": "XKIPEGERVDFDDIHRKRMEKDLLELQTLIDVHFEQRKKEEEELVALKERIERRRSERAEQQRFRTEKERERQAKLAEEKMRKEEEEAKKRAEDDAKKKKVLSNMGAHFGGYLVKAEQKRGKRQTGREMKVRILSERKKPLDIDYMGEEQLREKAQELSDWIHQLESEKFDLMAKLKQQKYEINVLYNRISHAQKFRKGAGKGRVGGRWK", "length": 210, "header": "tr|K7EQL4-1|TNNT1_HUMAN Computationally mapped isoform of Troponin T, slow skeletal muscle OS=Homo sapiens OX=9606 GN=TNNT1 PE=1 SV=1 CANONICAL=P13805-1" }, "locus": { "chromosome": "19", "start_pos": 55141891, "end_pos": 55132917, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000593194.5", "url": "https://www.ensembl.org/id/ENST00000593194.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000467881.2", "url": "https://www.ensembl.org/id/ENSP00000467881.2" } ] } }, { "isoform_ac": "M0QX01-1", "url": "", "sequence": { "sequence": "MSDTEEQEYEEEQPEEEAAEEEEEGEVPDSAEEERPKPSRPVVPPLIPPKIPEGERVDFDDIHRKRMEKDLLELQTLIDVHFEQRKKEEEELVALKERIERRRSERAEQQRFRTEKERERQAKLAEEKMRKEEEEAKKRAEDDA", "length": 144, "header": "tr|M0QX01-1|M0QX01_HUMAN Computationally mapped isoform of Troponin T, slow skeletal muscle OS=Homo sapiens OX=9606 GN=TNNT1 PE=1 SV=1 CANONICAL=P13805-1" }, "locus": { "chromosome": "19", "start_pos": 55147157, "end_pos": 55138018, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000588147.5", "url": "https://www.ensembl.org/id/ENST00000588147.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000467299.1", "url": "https://www.ensembl.org/id/ENSP00000467299.1" } ] } }, { "isoform_ac": "M0QY38-1", "url": "", "sequence": { "sequence": "XEMKVRILSERKKPLDIDYMGEEQLREKAQELSDWIHQLESEKFDLMAKLKQQKYEINVLYNRISHAQKLLRLALSPRLECSGVISAHCNFHLPGSSDSPASAP", "length": 104, "header": "tr|M0QY38-1|M0QY38_HUMAN Computationally mapped isoform of Troponin T, slow skeletal muscle OS=Homo sapiens OX=9606 GN=TNNT1 PE=1 SV=1 CANONICAL=P13805-1" }, "locus": { "chromosome": "19", "start_pos": 55137177, "end_pos": 55133570, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000586649.2", "url": "https://www.ensembl.org/id/ENST00000586649.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000469564.1", "url": "https://www.ensembl.org/id/ENSP00000469564.1" } ] } }, { "isoform_ac": "M0QZU8-1", "url": "", "sequence": { "sequence": "MSDTEEQEYEEEQPEEEAAEEEEEAPEEPEPVAEPEEERPKPSRPVVPPLIPPKIPEGERVDFDDIHRKRMEKDLLELQTLIDVHFEQRKKEEEELVALKERIERRRSERAEQQRFRTEKERERQAKLAEEKMRKEEEEAKKRAEDDAKKKKVLSNMGAHFGGYLVKAEQKRGKRQTGREMKVRILSERKKPLDIDYMGEEQL", "length": 203, "header": "tr|M0QZU8-1|M0QZU8_HUMAN Computationally mapped isoform of Troponin T, slow skeletal muscle OS=Homo sapiens OX=9606 GN=TNNT1 PE=1 SV=8 CANONICAL=P13805-1" }, "locus": { "chromosome": "19", "start_pos": 55147157, "end_pos": 55137105, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000593046.5", "url": "https://www.ensembl.org/id/ENST00000593046.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000470777.1", "url": "https://www.ensembl.org/id/ENSP00000470777.1" } ] } }, { "isoform_ac": "M0QZY5-1", "url": "", "sequence": { "sequence": "MSDTEEQEYEEEQPEEEAAEEEEEEEERPKPSRPVVPPLIPPKIPEGERVDFDDIHRKRMEKDLLELQTLIDVHFEQRKKEEEELVALKERIERRRSERAEQQRFRTEKERERQAKLAEEKMRKEEEEAKKRAEDDAKKKKVLSNMGAHFG", "length": 151, "header": "tr|M0QZY5-1|TNNT1_HUMAN Computationally mapped isoform of Troponin T, slow skeletal muscle OS=Homo sapiens OX=9606 GN=TNNT1 PE=1 SV=1 CANONICAL=P13805-1" }, "locus": { "chromosome": "19", "start_pos": 55147157, "end_pos": 55137976, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000589226.5", "url": "https://www.ensembl.org/id/ENST00000589226.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000470854.1", "url": "https://www.ensembl.org/id/ENSP00000470854.1" } ] } }, { "isoform_ac": "P13805-1", "url": "", "sequence": { "sequence": "MSDTEEQEYEEEQPEEEAAEEEEEAPEEPEPVAEPEEERPKPSRPVVPPLIPPKIPEGERVDFDDIHRKRMEKDLLELQTLIDVHFEQRKKEEEELVALKERIERRRSERAEQQRFRTEKERERQAKLAEEKMRKEEEEAKKRAEDDAKKKKVLSNMGAHFGGYLVKAEQKRGKRQTGREMKVRILSERKKPLDIDYMGEEQLRARSAWLPPSQPSCPAREKAQELSDWIHQLESEKFDLMAKLKQQKYEINVLYNRISHAQKFRKGAGKGRVGGRWK", "length": 278, "header": "sp|P13805-1|TNNT1_HUMAN Isoform 1 of Troponin T, slow skeletal muscle OS=Homo sapiens OX=9606 GN=TNNT1 PE=1 SV=4 CANONICAL=P13805-1" }, "locus": { "chromosome": "19", "start_pos": 55147157, "end_pos": 55132918, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000588981.6", "url": "https://www.ensembl.org/id/ENST00000588981.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000467176.1", "url": "https://www.ensembl.org/id/ENSP00000467176.1" } ] } }, { "isoform_ac": "P13805-2", "url": "", "sequence": { "sequence": "MSDTEEQEYEEEQPEEEAAEEEEEEEERPKPSRPVVPPLIPPKIPEGERVDFDDIHRKRMEKDLLELQTLIDVHFEQRKKEEEELVALKERIERRRSERAEQQRFRTEKERERQAKLAEEKMRKEEEEAKKRAEDDAKKKKVLSNMGAHFGGYLVKAEQKRGKRQTGREMKVRILSERKKPLDIDYMGEEQLREKAQELSDWIHQLESEKFDLMAKLKQQKYEINVLYNRISHAQKFRKGAGKGRVGGRWK", "length": 251, "header": "sp|P13805-2|TNNT1_HUMAN Isoform 2 of Troponin T, slow skeletal muscle OS=Homo sapiens OX=9606 GN=TNNT1 PE=1 SV=4 CANONICAL=P13805-1" }, "locus": { "chromosome": "19", "start_pos": 55147157, "end_pos": 55132918, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000356783.9", "url": "https://www.ensembl.org/id/ENST00000356783.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000349233.4", "url": "https://www.ensembl.org/id/ENSP00000349233.4" } ] } }, { "isoform_ac": "P13805-3", "url": "", "sequence": { "sequence": "MSDTEEQEYEEEQPEEEAAEEEEEAPEEPEPVAEPEEERPKPSRPVVPPLIPPKIPEGERVDFDDIHRKRMEKDLLELQTLIDVHFEQRKKEEEELVALKERIERRRSERAEQQRFRTEKERERQAKLAEEKMRKEEEEAKKRAEDDAKKKKVLSNMGAHFGGYLVKAEQKRGKRQTGREMKVRILSERKKPLDIDYMGEEQLREKAQELSDWIHQLESEKFDLMAKLKQQKYEINVLYNRISHAQKFRKGAGKGRVGGRWK", "length": 262, "header": "sp|P13805-3|TNNT1_HUMAN Isoform 3 of Troponin T, slow skeletal muscle OS=Homo sapiens OX=9606 GN=TNNT1 PE=1 SV=4 CANONICAL=P13805-1" }, "locus": { "chromosome": "19", "start_pos": 55147157, "end_pos": 55132918, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000291901.12", "url": "https://www.ensembl.org/id/ENST00000291901.12" }, { "database": "Ensembl Peptide", "id": "ENSP00000291901.8", "url": "https://www.ensembl.org/id/ENSP00000291901.8" } ] } }, { "isoform_ac": "Q3B759-1", "url": "", "sequence": { "sequence": "MEKDLLELQTLIDVHFEQRKKEEEELVALKERIERRRSERAEQQRFRTEKERERQAKLAEEKMRKEEEEAKKRAEDDAKKKKVLSNMGAHFGGYLVKAEQKRGKRQTGREMKVRILSERKKPLDIDYMGEEQLREKAQELSDWIHQLESEKFDLMAKLKQQKYEINVLYNRISHAQKFRKGAGKGRVGGRWK", "length": 192, "header": "tr|Q3B759-1|TNNT1_HUMAN Computationally mapped isoform of Troponin T, slow skeletal muscle OS=Homo sapiens OX=9606 GN=TNNT1 PE=1 SV=1 CANONICAL=P13805-1" }, "locus": { "chromosome": "19", "start_pos": 55141284, "end_pos": 55132918, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000585321.6", "url": "https://www.ensembl.org/id/ENST00000585321.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000467980.2", "url": "https://www.ensembl.org/id/ENSP00000467980.2" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "P13805", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P13805" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" } ] } ], "phosphorylation": [ { "start_pos": 207, "end_pos": 207, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P13805", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P13805" }, { "database": "PubMed", "id": "20418543", "url": "https://glygen.org/publication/PubMed/20418543" } ], "site_lbl": "Ser207" }, { "start_pos": 2, "end_pos": 2, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine; by CK2", "evidence": [ { "database": "UniProtKB", "id": "P13805", "url": "https://www.uniprot.org/uniprot/P13805" } ], "site_lbl": "Ser2" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Close physical linkage of human troponin genes: organization, sequence, and expression of the locus encoding cardiac troponin I and slow skeletal troponin T.", "journal": "Genomics", "date": "1999", "authors": "Barton P J, Cullen M E, Townsend P J, Brand N J, Mullen A J, Norman D A, Bhavsar P K, Yacoub M H", "evidence": [ { "database": "UniProtKB", "id": "P13805", "url": "https://www.uniprot.org/uniprot/P13805" } ], "reference": [ { "type": "PubMed", "id": "10191089", "url": "https://glygen.org/publication/PubMed/10191089" } ] }, { "title": "Regulation of contraction in striated muscle.", "journal": "Physiological reviews", "date": "2000", "authors": "Gordon AM, Homsher E, Regnier M", "evidence": [ { "database": "Reactome", "id": "R-HSA-390522", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-390522" } ], "reference": [ { "type": "PubMed", "id": "10747208", "url": "https://glygen.org/publication/PubMed/10747208" } ] }, { "title": "A novel nemaline myopathy in the Amish caused by a mutation in troponin T1.", "journal": "American journal of human genetics", "date": "2000", "authors": "Johnston JJ, Kelley RI, Crawford TO, Morton DH, Agarwala R, Koch T, Schaffer AA, Francomano CA, Biesecker LG", "evidence": [ { "database": "UniProtKB", "id": "P13805", "url": "https://www.uniprot.org/uniprot/P13805" } ], "reference": [ { "type": "PubMed", "id": "10952871", "url": "https://glygen.org/publication/PubMed/10952871" } ] }, { "title": "Decreased serine207 phosphorylation of troponin T as a biomarker for left ventricular remodelling after myocardial infarction.", "journal": "European heart journal", "date": "2011", "authors": "Dubois E, Richard V, Mulder P, Lamblin N, Drobecq H, Henry JP, Amouyel P, Thuillez C, Bauters C, Pinet F", "evidence": [ { "database": "iPTMnet", "id": "P13805", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P13805" } ], "reference": [ { "type": "PubMed", "id": "20418543", "url": "https://glygen.org/publication/PubMed/20418543" } ] }, { "title": "Alternative splicing generates variants in important functional domains of human slow skeletal troponin T.", "journal": "J. Biol. Chem.", "date": "1987", "authors": "Gahlmann R, Troutt AB, Wade RP, Gunning P, Kedes L", "evidence": [ { "database": "UniProtKB", "id": "P13805", "url": "https://www.uniprot.org/uniprot/P13805" } ], "reference": [ { "type": "PubMed", "id": "2824479", "url": "https://glygen.org/publication/PubMed/2824479" } ] }, { "title": "Novel autosomal dominant TNNT1 mutation causing nemaline myopathy.", "journal": "Molecular genetics & genomic medicine", "date": "2017", "authors": "Konersman CG, Freyermuth F, Winder TL, Lawlor MW, Lagier-Tourenne C, Patel SB", "evidence": [ { "database": "UniProtKB", "id": "P13805", "url": "https://www.uniprot.org/uniprot/P13805" } ], "reference": [ { "type": "PubMed", "id": "29178646", "url": "https://glygen.org/publication/PubMed/29178646" } ] }, { "title": "Novel Recessive TNNT1 Congenital Core-Rod Myopathy in French Canadians.", "journal": "Annals of neurology", "date": "2020", "authors": "Pellerin D, Aykanat A, Ellezam B, Troiano EC, Karamchandani J, Dicaire MJ, Petitclerc M, Robertson R, Allard-Chamard X, Brunet D, Konersman CG, Mathieu J, Warman Chardon J, Gupta VA, Beggs AH, Brais B, Chrestian N", "evidence": [ { "database": "UniProtKB", "id": "P13805", "url": "https://www.uniprot.org/uniprot/P13805" } ], "reference": [ { "type": "PubMed", "id": "31970803", "url": "https://glygen.org/publication/PubMed/31970803" } ] }, { "title": "Clinical phenotype and loss of the slow skeletal muscle troponin T in three new patients with recessive TNNT1 nemaline myopathy.", "journal": "Journal of medical genetics", "date": "2021", "authors": "Geraud J, Dieterich K, Rendu J, Uro Coste E, Dobrzynski M, Marcorelle P, Ioos C, Romero NB, Baudou E, Brocard J, Coville AC, Faure J, Koenig M, Juntas Morales R, Lacene E, Madelaine A, Marty I, Pegeot H, Theze C, Siegfried A, Cossee M, Cances C", "evidence": [ { "database": "UniProtKB", "id": "P13805", "url": "https://www.uniprot.org/uniprot/P13805" } ], "reference": [ { "type": "PubMed", "id": "32994279", "url": "https://glygen.org/publication/PubMed/32994279" } ] }, { "title": "TNNT1 myopathy with novel compound heterozygous mutations.", "journal": "Neuromuscular disorders : NMD", "date": "2022", "authors": "Lee S, Eum J, Park S, Ki S, Hwang BJ, Kee Y, Chae JH", "evidence": [ { "database": "UniProtKB", "id": "P13805", "url": "https://www.uniprot.org/uniprot/P13805" }, { "database": "RefSeq", "id": "NP_001119604", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001119604" } ], "reference": [ { "type": "PubMed", "id": "35165004", "url": "https://glygen.org/publication/PubMed/35165004" } ] }, { "title": "Autosomal dominantly inherited myopathy likely caused by the TNNT1 variant p.(Asp65Ala).", "journal": "Human mutation", "date": "2022-09", "authors": "Holling Tess, Lisfeld Jasmin, Johannsen Jessika, Matschke Jakob, Song Feizhi, Altmeppen Hermann Clemens, Kutsche Kerstin", "evidence": [ { "database": "UniProtKB", "id": "P13805", "url": "https://www.uniprot.org/uniprot/P13805" } ], "reference": [ 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homeostasis.", "journal": "Journal of biomedical science", "date": "2023-05-22", "authors": "Hung Yu-Wen, Ouyang Ching, Ping Xiaoli, Qi Yue, Wang Yi-Chang, Kung Hsing-Jien, Ann David K", "evidence": [ { "database": "O-GlcNAc Database", "id": "P13805", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P13805" } ], "reference": [ { "type": "PubMed", "id": "37217939", "url": "https://glygen.org/publication/PubMed/37217939" } ] }, { "title": "WiTNNess: An international natural history study of infantile-onset TNNT1 myopathy.", "journal": "Annals of clinical and translational neurology", "date": "2023-08-25", "authors": "Strauss Kevin A, Carson Vincent J, Bolettieri Emilienne, Everett Mariah, Bollinger Ashton, Bowser Lauren E, Beiler Keturah, Young Millie, Edvardson Simon, Fraenkel Nitay, D'Amico Adele, Bertini Enrico, Lingappa Lokesh, Chowdhury Devyani, Lowes Linda P, Iammarino Megan, Alfano Lindsay N, Brigatti Karlla W", "evidence": [ { "database": "RefSeq", "id": "NP_001119604", 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Biophys. Res. Commun.", "date": "1994", "authors": "Samson F, Mesnard L, Mihovilovic M, Potter T G, Mercadier J J, Roses A D, Gilbert J R", "evidence": [ { "database": "UniProtKB", "id": "P13805", "url": "https://www.uniprot.org/uniprot/P13805" } ], "reference": [ { "type": "PubMed", "id": "8135831", "url": "https://glygen.org/publication/PubMed/8135831" } ] }, { "title": "Isolation and cloning by a polymerase chain reaction of a genomic DNA fragment of the human slow skeletal troponin (TNNT1) gene.", "journal": "Cell Biochem. 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