{ "uniprot_canonical_ac": "P09668-1", "uniprot_ac": "P09668", "uniprot_id": "CATH_HUMAN", "mass": { "chemical_mass": 37394.0, "monoisotopic_mass": 37394.0 }, "refseq": { "ac": "NP_004381", "name": "pro-cathepsin H isoform a preproprotein", "summary": "The protein encoded by this gene is a lysosomal cysteine proteinase important in the overall degradation of lysosomal proteins. It is composed of a dimer of disulfide-linked heavy and light chains, both produced from a single protein precursor. The encoded protein, which belongs to the peptidase C1 protein family, can act both as an aminopeptidase and as an endopeptidase. Increased expression of this gene has been correlated with malignant progression of prostate tumors. Alternate splicing of this gene results in multiple transcript variants encoding different isoforms. 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It is composed of a dimer of disulfide-linked heavy and light chains, both produced from a single protein precursor. The encoded protein, which belongs to the peptidase C1 protein family, can act both as an aminopeptidase and as an endopeptidase. Increased expression of this gene has been correlated with malignant progression of prostate tumors. Alternate splicing of this gene results in multiple transcript variants encoding different isoforms. 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"description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "No", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P09668", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P09668" } ], "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": "No", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "P09668", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P09668" } ], "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", 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"id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of 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{ "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed 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"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": "P09668", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P09668" } ], "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", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P09668" } ], "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": "No", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { 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"MWATLPLLCAGAWLLGVPVCGAAELCVNSLEKFHFKSWMSKHRKTYSTEEYHHRLQTFASNWRKINAHNNGNHTFKMALNQFSDMSFAEIKHKYLWSEPQNCSATKSNYLRGTGPYPPSVDWRKKGNFVSPVKNQGACGSCWTFSTTGALESAIAIATGKMLSLAEQQLVDCAQDFNNHGCQGGLPSQAFEYILYNKGIMGEDTYPYQGKDGYCKFQPGKAIGFVKDVANITIYDEEAMVEAVALYNPVSFAFEVTQDFMMYRTGIYSSTSCHKTPDKVNHAVLAVGYGEKNGIPYWIVKNSWGPQWGMNGYFLIERGKNMCGLAACASYPIPLV", "length": 335, "header": "sp|P09668-1|CATH_HUMAN Isoform 1 of Pro-cathepsin H OS=Homo sapiens OX=9606 GN=CTSH PE=1 SV=4 CANONICAL=P09668-1" }, "isoforms": [ { "isoform_ac": "A0A087X0D5-1", "url": "", "sequence": { "sequence": "MWATLPLLCAGAWLLGVPVCGAAELCVNSLEKFHFKSWMSKHRKTYSTEEYHHRLQTFASNWRKINAHNNGNHTFKMALNQFSDMSFAEIKHKYLWSEPQNCSATKSNYLRGTGPYPPSVDWRKKGNFVSPVKNQGACGSCWTFSTTGALESAIAIATGKMLSLAEQQLVDCAQDFNNHGCQGGLPSQAFEYILYNKGIMGEDTYPYQGKDGYCKFQPGKAIGFVKDVANITIQLSASCRRGYEHVLDTACVKLRRYDEEAMVEAVALYNPVSFAFEVTQDFMMYRTGIYSSTSCHKTPDKVNHAVLAVGYGEKNGIPYWIVKNSWGPQWGMNGYFLIERGKNMCGLAACASYPIPLV", "length": 358, "header": "tr|A0A087X0D5-1|A0A087X0D5_HUMAN Computationally mapped isoform of Pro-cathepsin H OS=Homo sapiens OX=9606 GN=CTSH PE=1 SV=2 CANONICAL=P09668-1" }, "locus": { "chromosome": "15", "start_pos": 78944981, "end_pos": 78922133, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000615999.5", "url": "https://www.ensembl.org/id/ENST00000615999.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000483303.2", "url": "https://www.ensembl.org/id/ENSP00000483303.2" } ] } }, { "isoform_ac": "A0A0B4J217-1", "url": "", "sequence": { "sequence": "MWATLPLLCAGAWLLGVPVCGAAELCVNSLEKFHFKSWMSKKTKAHCVLVAESVGEHQCMCF", "length": 62, "header": "tr|A0A0B4J217-1|CATH_HUMAN Computationally mapped isoform of Pro-cathepsin H OS=Homo sapiens OX=9606 GN=CTSH PE=1 SV=1 CANONICAL=P09668-1" }, "locus": { "chromosome": "15", "start_pos": 78944981, "end_pos": 78937761, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000533777.5", "url": "https://www.ensembl.org/id/ENST00000533777.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000431879.1", "url": "https://www.ensembl.org/id/ENSP00000431879.1" } ] } }, { "isoform_ac": "A0A3B3IRM7-1", "url": "", "sequence": { "sequence": "MWATLPLLCAGAWLLGVPVCGAAELCVNSLEKFHFKSWMSKHRKTYSTEEYHHRLQTFASNWRKINAHNNGNHTFKMALNQFSDMSFAEIKHKYLWSEPQNCSATKSNYLRGTGPYPPSVDWRKKGNFVSPVKNQGACGSCWTFSTTGALESAIAIATGKMLSLPQLSS", "length": 169, "header": "tr|A0A3B3IRM7-1|CATH_HUMAN Computationally mapped isoform of Pro-cathepsin H OS=Homo sapiens OX=9606 GN=CTSH PE=1 SV=2 CANONICAL=P09668-1" }, "locus": { "chromosome": "15", "start_pos": 78944981, "end_pos": 78932024, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000649928.2", "url": "https://www.ensembl.org/id/ENST00000649928.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000496858.2", "url": "https://www.ensembl.org/id/ENSP00000496858.2" } ] } }, { "isoform_ac": "A0A7I2V2E4-1", "url": "", "sequence": { "sequence": "MWATLPLLCAGAWLLGVPVCGAAELCVNSLEKFHFKSWMSKHRKTYSTEEYHHRLQTFASNWRKINAHNNGNHTFKMALNQFSDMSFAEIKHKYLWSEPQNCSATKSNYLRGTGPYPPSVDWRKKGNFVSPVKNQGACGSCWTFSTTGALESAIAIATGKMLSLAEQQLVDCAQDFNNHGCQGGLPSQAFEYILYNKGIMGEDTYPYQGKDGYCKFQPGKAIGFVKDVANITIRLPFS", "length": 238, "header": "tr|A0A7I2V2E4-1|CATH_HUMAN Computationally mapped isoform of Pro-cathepsin H OS=Homo sapiens OX=9606 GN=CTSH PE=1 SV=1 CANONICAL=P09668-1" }, "locus": { "chromosome": "15", "start_pos": 78944981, "end_pos": 78926925, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000676596.1", "url": "https://www.ensembl.org/id/ENST00000676596.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000502871.1", "url": "https://www.ensembl.org/id/ENSP00000502871.1" } ] } }, { "isoform_ac": "A0A7I2V2L7-1", "url": "", "sequence": { "sequence": "MWATLPLLCAGAWLLGVPVCGAAELCVNSLEKFHFKSWMSKHRKTYSTEEYHHRLQTFASNWRKINAHNNGNHTFKMALNQFSDMSFAEIKHKYLWSEPQNCSATKSNYLRGTGPYPPSVDWRKKGNFVSPVKNQGACGSCWTFSTTGALESAIAIATGKMLSLAEQQLVDCAQDFNNHGCQGGLPSQAFEYILYNKGIMGEDTYPYQGKDGYCKFQPGKAIGFVKDVANITIYDEEAMVEAVALYNPVSFAFEVTQDFMMYRTGIYSSTSCHKTPDKVNHAVLAVGYGEKNGIPYWIVKNSWGPQWGMNG", "length": 311, "header": "tr|A0A7I2V2L7-1|CATH_HUMAN Computationally mapped isoform of Pro-cathepsin H OS=Homo sapiens OX=9606 GN=CTSH PE=1 SV=1 CANONICAL=P09668-1" }, "locus": { "chromosome": "15", "start_pos": 78944981, "end_pos": 78922992, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000677936.1", "url": "https://www.ensembl.org/id/ENST00000677936.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000502988.1", "url": "https://www.ensembl.org/id/ENSP00000502988.1" } ] } }, { "isoform_ac": "A0A7I2V2T8-1", "url": "", "sequence": { "sequence": "MSFAEIKHKYLWSEPQNCSATKSNYLRGTGPYPPSVDWRKKGNFVSPVKNQGACGSCWTFSTTGALESAIAIATGKMLSLQPQLSS", "length": 86, "header": "tr|A0A7I2V2T8-1|CATH_HUMAN Computationally mapped isoform of Pro-cathepsin H OS=Homo sapiens OX=9606 GN=CTSH PE=1 SV=1 CANONICAL=P09668-1" }, "locus": { "chromosome": "15", "start_pos": 78935727, "end_pos": 78932024, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000528191.6", "url": "https://www.ensembl.org/id/ENST00000528191.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000503084.1", "url": "https://www.ensembl.org/id/ENSP00000503084.1" } ] } }, { "isoform_ac": "A0A7I2V314-1", "url": "", "sequence": { "sequence": "MWATLPLLCAGAWLLGVPVCGAAELCVNSLEKFHFKSWMSKHRKTYSTEEYHHRLQTFASNWRKINAHNNGNHTFKMALNQFSDMSFAEIKHKYLWSEPQNCSATKSNYLRGTGPYPPSVDWRKKGNFVSPVKNQGACGSCWTFSTTGALESAIAIATGKMLSLAEQQLVDCAQDFNNHGCQGGLPSQAFEYILYNKGIMGEDTYPYQGKDGYCKFQPGKAIGFVKDVANITIVLYQPSIRTIPSRPELALGDEYPYYLI", "length": 260, "header": "tr|A0A7I2V314-1|CATH_HUMAN Computationally mapped isoform of Pro-cathepsin H OS=Homo sapiens OX=9606 GN=CTSH PE=1 SV=1 CANONICAL=P09668-1" }, "locus": { "chromosome": "15", "start_pos": 78944981, "end_pos": 78926788, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000679017.1", "url": "https://www.ensembl.org/id/ENST00000679017.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000503247.1", "url": "https://www.ensembl.org/id/ENSP00000503247.1" } ] } }, { "isoform_ac": "A0A7I2V3E8-1", "url": "", "sequence": { "sequence": "MWATLPLLCAGAWLLGVPVCGAAELCVNSLEKFHFKSWMSKHRKTYSTEEYHHRLQTFASNWRKINAHNNGNHTFKMALNQFSDMSFAEIKHKYLWSEPQNCSATKSNYLRGTGPYPPSVDWRKKGNFVSPVKNQVCLAISILSLQNGHTPRQYTRKNNSKGPQNHHKHIPASVSSRHLSSPLPLRGQGGCLRQLLDFLHHWGPGVCDRHRNRKDAVLASVVFMREEPGPMHPSPRPQETDDAPEGTILAPASVEKGGTVHSRPGDAMRTLGCGQAEQQLVDCAQDFNNHGCQGGLPSQAFEYILYNKGIMGEDTYPYQGKDGYCKFQPGKAIGFVKDVANITIYDEEAMVEAVALYNPVSFAFEVTQDFMMYRTGIYSSTSCHKTPDKVNHAVLAVGYGEKNGIPYWIVKNSWGPQWGMNGYFLIERGKNMCGLAACASYPIPLV", "length": 446, "header": "tr|A0A7I2V3E8-1|CATH_HUMAN Computationally mapped isoform of Pro-cathepsin H OS=Homo sapiens OX=9606 GN=CTSH PE=1 SV=1 CANONICAL=P09668-1" }, "locus": { "chromosome": "15", "start_pos": 78944981, "end_pos": 78922133, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000677534.1", "url": "https://www.ensembl.org/id/ENST00000677534.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000503261.1", "url": "https://www.ensembl.org/id/ENSP00000503261.1" } ] } }, { "isoform_ac": "A0A7I2V3T9-1", "url": "", "sequence": { "sequence": "MWATLPLLCAGAWLLGVPVCGAAELCVNSLEKFHFKSWMSKHRKTYSTEEYHHRLQTFASNWRKINAHNNGNHTFKMALNQFSDMSFAEIKHKYLWSEPQNCSATKSNYLRGTGPYPPSVDWRKKGNFVSPVKNQGACGSCWTFSTTGALESAIAIATGKMLSLAEQQLVDCAQDFNNHGCQGGLPSQAFEYILYNKGIMGEDTYPYQGKDGYCKFQPGKAIGFVKDVANITIYDEEAMVEAVALYNPVSFAFEVTQDFMMYRTGIYSRYFLIERGKNMCGLAACASYPIPLV", "length": 293, "header": "tr|A0A7I2V3T9-1|CATH_HUMAN Computationally mapped isoform of Pro-cathepsin H OS=Homo sapiens OX=9606 GN=CTSH PE=1 SV=1 CANONICAL=P09668-1" }, "locus": { "chromosome": "15", "start_pos": 78944981, "end_pos": 78922133, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000677810.1", "url": "https://www.ensembl.org/id/ENST00000677810.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000503585.1", "url": "https://www.ensembl.org/id/ENSP00000503585.1" } ] } }, { "isoform_ac": "A0A7I2V439-1", "url": "", "sequence": { "sequence": "MWATLPLLCAGAWLLGVPVCGAAELCVNSLEKFHFKSWMSKHRKTYSTEEYHHRLQTFASNWRKINAHNNGNHTFKMALNQFSDMSFAEIKHKYLWSEPQNCSATKSNYLRGTGPYPPSVDWRKKGNFVSPVKNQGACGSCWTFSTTGALESAIAIATGKMLSLAEQQLVDCAQDFNNHGCQGGLPSQAFEYILYNKGIMGEDTYPYQGKDGYCKFQPGKAIGFVKDVANITITRTGPRR", "length": 240, "header": "tr|A0A7I2V439-1|CATH_HUMAN Computationally mapped isoform of Pro-cathepsin H OS=Homo sapiens OX=9606 GN=CTSH PE=1 SV=1 CANONICAL=P09668-1" }, "locus": { "chromosome": "15", "start_pos": 78944981, "end_pos": 78926810, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000679334.1", "url": "https://www.ensembl.org/id/ENST00000679334.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000503722.1", "url": "https://www.ensembl.org/id/ENSP00000503722.1" } ] } }, { "isoform_ac": "A0A7I2V4H2-1", "url": "", "sequence": { "sequence": "MWATLPLLCAGAWLLGVPVCGAAELCVNSLEKFHFKSWMSKHRKTYSTEEYHHRLQTFASNWRKINAHNNGNHTFKNCGSAVTLCVMWDRKFGTKPVPLWVVVKFTRDSVEAPAPFLPSEGPAWKPSGTEPIFRHELC", "length": 138, "header": "tr|A0A7I2V4H2-1|CATH_HUMAN Computationally mapped isoform of Pro-cathepsin H OS=Homo sapiens OX=9606 GN=CTSH PE=1 SV=1 CANONICAL=P09668-1" }, "locus": { "chromosome": "15", "start_pos": 78944981, "end_pos": 78935717, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000678281.1", "url": "https://www.ensembl.org/id/ENST00000678281.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000503860.1", "url": "https://www.ensembl.org/id/ENSP00000503860.1" } ] } }, { "isoform_ac": "A0A7I2V4N9-1", "url": "", "sequence": { "sequence": "MWATLPLLCAGAWLLGVPVCGAAELCVNSLGKTAIDWSLEQVRDPKTEI", "length": 49, "header": "tr|A0A7I2V4N9-1|CATH_HUMAN Computationally mapped isoform of Pro-cathepsin H OS=Homo sapiens OX=9606 GN=CTSH PE=1 SV=1 CANONICAL=P09668-1" }, "locus": { "chromosome": "15", "start_pos": 78944981, "end_pos": 78942875, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000678415.1", "url": "https://www.ensembl.org/id/ENST00000678415.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000504210.1", "url": "https://www.ensembl.org/id/ENSP00000504210.1" } ] } }, { "isoform_ac": "A0A7I2V4W0-1", "url": "", "sequence": { "sequence": "MWATLPLLCAGAWLLGVPVCGAAELCVNSLEKFHFKSWMSKWH", "length": 43, "header": "tr|A0A7I2V4W0-1|CATH_HUMAN Computationally mapped isoform of Pro-cathepsin H OS=Homo sapiens OX=9606 GN=CTSH PE=1 SV=1 CANONICAL=P09668-1" }, "locus": { "chromosome": "15", "start_pos": 78944981, "end_pos": 78935745, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000678487.1", "url": "https://www.ensembl.org/id/ENST00000678487.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000504239.1", "url": "https://www.ensembl.org/id/ENSP00000504239.1" } ] } }, { "isoform_ac": "A0A7I2V4X5-1", "url": "", "sequence": { "sequence": "MWATLPLLCAGAWLLGVPVCGAAELCVNSLEKFHFKSWMSKHRKTYSTEEYHHRLQTFASNWRKINAHNNGNHTFKMALNQFSDMSFAEIKHKYLWSEPQNCSATKSNYLRGTGPYPPSVDWRKKGNFVSPVKNQGACGSCWTFSTTGALESAIAIATGKMLSLVRNQPQATPCGGHPILMWARPGPLVSLEHWLRAEQQLVDCAQDFNNHGCQGGLPSQAFEYILYNKGIMGEDTYPYQGKDGYCKFQPGKAIGFVKDVANITIYDEEAMVEAVALYNPVSFAFEVTQDFMMYRTGIYSSTSCHKTPDKVNHAVLAVGYGEKNGIPYWIVKNSWGPQWGMNGYFLIERGKNMCGLAACASYPIPLV", "length": 367, "header": "tr|A0A7I2V4X5-1|CATH_HUMAN Computationally mapped isoform of Pro-cathepsin H OS=Homo sapiens OX=9606 GN=CTSH PE=1 SV=1 CANONICAL=P09668-1" }, "locus": { "chromosome": "15", "start_pos": 78944981, "end_pos": 78922133, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000676880.1", "url": "https://www.ensembl.org/id/ENST00000676880.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000504341.1", "url": "https://www.ensembl.org/id/ENSP00000504341.1" } ] } }, { "isoform_ac": "A0A7I2V532-1", "url": "", "sequence": { "sequence": "MWATLPLLCAGAWLLGVPVCGAAELCVNSLEKFHFKSWMSKHRKTYSTEEYHHRLQTFASNWRKINAHNNGNHTFKMALNQFSDMSFAEIKHKYLWSEPQNCSATKSNYLRGTGPYPPSVDWRKKGNFVSPVKNQVCLAISILSLQNGHTPRQYTRKNNSKGPQNHHKHIPASVSSRHLSSPLPLRGQGGQHFSRLLWRMQKFLFIGLKFTPFLPHAPDFPIGPRSLLQSHPKRYVPCAHLDTRTPCISSSRLHLLRATRVQPLPWLAASLWLVHVSCISKLLMAGAGLRGPCCGAQRAWQGERPCLPPWGSSLGASQHRPCPRESGPCPRCSPGLLRPLP", "length": 341, "header": "tr|A0A7I2V532-1|CATH_HUMAN Computationally mapped isoform of Pro-cathepsin H OS=Homo sapiens OX=9606 GN=CTSH PE=1 SV=1 CANONICAL=P09668-1" }, "locus": { "chromosome": "15", "start_pos": 78944981, "end_pos": 78934360, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000676510.1", "url": "https://www.ensembl.org/id/ENST00000676510.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000504686.1", "url": "https://www.ensembl.org/id/ENSP00000504686.1" } ] } }, { "isoform_ac": "A0A7I2V563-1", "url": "", "sequence": { "sequence": "MWATLPLLCAGAWLLGVPVCGAAELCVNSLEKFHFKSWMSKENKKVSL", "length": 48, "header": "tr|A0A7I2V563-1|CATH_HUMAN Computationally mapped isoform of Pro-cathepsin H OS=Homo sapiens OX=9606 GN=CTSH PE=1 SV=1 CANONICAL=P09668-1" }, "locus": { "chromosome": "15", "start_pos": 78944981, "end_pos": 78937476, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000676808.1", "url": "https://www.ensembl.org/id/ENST00000676808.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000504472.1", "url": "https://www.ensembl.org/id/ENSP00000504472.1" } ] } }, { "isoform_ac": "A0A7I2V673-1", "url": "", "sequence": { "sequence": "MSFAEIKHKYLWSEPQNCSATKSNYLRGTGPYPPSVDWRKKGNFVSPVKNQGACGSCWTFSTTGALESAIAIATGKMLSLAEQQLVDCAQDFNNHGCQGGLPSQAFEYILYNKGIMGEDTYPYQGKDGYCKFQPGKAIGFVKDVANITIYDEEAMVEAVALYNPVSFAFEVTQDFMMYRTGIYSSTSCHKTPDKVNHAVLAVGYGEKNGIPYWIVKNSWGPQWGMNGYFLIERGKNMCGLAACASYPIPLV", "length": 251, "header": "tr|A0A7I2V673-1|CATH_HUMAN Computationally mapped isoform of Pro-cathepsin H OS=Homo sapiens OX=9606 GN=CTSH PE=1 SV=1 CANONICAL=P09668-1" }, "locus": { "chromosome": "15", "start_pos": 78935727, "end_pos": 78922133, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000677207.1", "url": "https://www.ensembl.org/id/ENST00000677207.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000504828.1", "url": "https://www.ensembl.org/id/ENSP00000504828.1" } ] } }, { "isoform_ac": "A0A7I2YQ92-1", "url": "", "sequence": { "sequence": "MWATLPLLCAGAWLLGVPVCGAAELCVNSLEKFHFKSWMSKHRKTYSTEEYHHRLQTFASNWRKINAHNNGNHTFKMALNQFSDMSFAEIKHKYLWSEPQNCSATKSNYLRGTGPYPPSVDWRKKGNFVSPVKNQAEQQLVDCAQDFNNHGCQGGLPSQAFEYILYNKGIMGEDTYPYQGKDGYCKFQPGKAIGFVKDVANITIYDEEAMVEAVALYNPVSFAFEVTQDFMMYRTGIYSSTSCHKTPDKVNHAVLAVGYGEKNGIPYWIVKNSWGPQWGMNGYFLIERGKNMCGLAACASYPIPLV", "length": 306, "header": "tr|A0A7I2YQ92-1|CATH_HUMAN Computationally mapped isoform of Pro-cathepsin H OS=Homo sapiens OX=9606 GN=CTSH PE=1 SV=1 CANONICAL=P09668-1" }, "locus": { "chromosome": "15", "start_pos": 78944981, "end_pos": 78922133, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000677789.1", "url": "https://www.ensembl.org/id/ENST00000677789.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000503073.1", "url": "https://www.ensembl.org/id/ENSP00000503073.1" } ] } }, { "isoform_ac": "A0A7I2YQE6-1", "url": "", "sequence": { "sequence": "MWATLPLLCAGAWLLGVPVCGAAELCVNSLEKFHFKSWMSKHRKTYSTEEYHHRLQTFASNWRKINAHNNGNHTFKMALNQFSDMSFAEIKHKYLWSEPQNCSATKSNYLRGTGPYPPSVDWRKKGNFVSPVKNQGACGSCWTFSTTGALESAIAIATGKMLSLQPQLSS", "length": 170, "header": "tr|A0A7I2YQE6-1|CATH_HUMAN Computationally mapped isoform of Pro-cathepsin H OS=Homo sapiens OX=9606 GN=CTSH PE=1 SV=1 CANONICAL=P09668-1" }, "locus": { "chromosome": "15", "start_pos": 78944981, "end_pos": 78932024, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000678031.1", "url": "https://www.ensembl.org/id/ENST00000678031.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000503477.1", "url": "https://www.ensembl.org/id/ENSP00000503477.1" } ] } }, { "isoform_ac": "A0A7I2YQH4-1", "url": "", "sequence": { "sequence": "MWATLPLLCAGAWLLGVPVCGAAELCVNSLEKFHFKSWMSKHRKTYSTEEYHHRLQTFASNWRKINAHNNGNHTFKMALNQFSDMSFAEIKHKYLWSEPQNCSATKSNYLRGTGPYPPSVDWRKKGNFVSPVKNQGACGSCWTFSTTGALESAIAIATGKMLSLAEQQLVDCAQDFNNHGCQGGLPSQAFEYILYNKGIMGEDTYPYQGKDGYCKFQPGKAIGFVKDVANITIYDEEAMVEAVALYNPVSFAFEVTQDFMMYRTGIYSRASKGQLCMLPGSRHLALARAYGPLTHQLNSHLTTAVCSLEFLGISLWRLVHFCKQKKLYFCHRYKVIFNKCSGNKA", "length": 345, "header": "tr|A0A7I2YQH4-1|CATH_HUMAN Computationally mapped isoform of Pro-cathepsin H OS=Homo sapiens OX=9606 GN=CTSH PE=1 SV=1 CANONICAL=P09668-1" }, "locus": { "chromosome": "15", "start_pos": 78944981, "end_pos": 78923756, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000676850.1", "url": "https://www.ensembl.org/id/ENST00000676850.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000503646.1", "url": "https://www.ensembl.org/id/ENSP00000503646.1" } ] } }, { "isoform_ac": "A0A7I2YQL1-1", "url": "", "sequence": { "sequence": "MSFAEIKHKYLWSEPQNCSATKSNYLRGTGPYPPSVDWRKKGNFVSPVKNQGACGSCWTFSTTGALESAIAIATGKMLSLPQLSS", "length": 85, "header": "tr|A0A7I2YQL1-1|A0A7I2YQL1_HUMAN Computationally mapped isoform of Pro-cathepsin H OS=Homo sapiens OX=9606 GN=CTSH PE=1 SV=1 CANONICAL=P09668-1" }, "locus": { "chromosome": "15", "start_pos": 78935727, "end_pos": 78932024, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000676763.1", "url": "https://www.ensembl.org/id/ENST00000676763.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000503917.1", "url": "https://www.ensembl.org/id/ENSP00000503917.1" } ] } }, { "isoform_ac": "A0A7I2YQL6-1", "url": "", "sequence": { "sequence": "MWATLPLLCAGAWLLGVPVCGAAELCVNSLEKFHFKSWMSKHRKTYSTEEYHHRLQTFASNWRKINAHNNGNHTFKMALNQFSDMSFAEIKHKYLWSEPQNCSATKSNYLRGTGPYPPSVDWRKKGNFVSPVKNQGACGSCWTFSTTGALESAIAIATGKMLSLAEQQLVDCAQDFNNHGCQGMVIASSNLERPSALSRM", "length": 200, "header": "tr|A0A7I2YQL6-1|A0A7I2YQL6_HUMAN Computationally mapped isoform of Pro-cathepsin H OS=Homo sapiens OX=9606 GN=CTSH PE=1 SV=1 CANONICAL=P09668-1" }, "locus": { "chromosome": "15", "start_pos": 78944981, "end_pos": 78927730, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000678727.1", "url": "https://www.ensembl.org/id/ENST00000678727.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000503995.1", "url": "https://www.ensembl.org/id/ENSP00000503995.1" } ] } }, { "isoform_ac": "A0A7I2YQX6-1", "url": "", "sequence": { "sequence": "MALNQFSDMSFAEIKHKYLWSEPQNCSATKSNYLRGTGPYPPSVDWRKKGNFVSPVKNQGACGSCWTFSTTGALESAIAIATGKMLSLAEQQLVDCAQDFNNHGCQGGLPSQAFEYILYNKGIMGEDTYPYQGKDGYCKFQPGKAIGFVKDVANITIYDEEAMVEAVALYNPVSFAFEVTQDFMMYRTGIYSSTSCHKTPDKVNHAVLAVGYGEKNGIPYWIVKNSWGPQWGMNGYFLIERGKNMCGLAACASYPIPLV", "length": 259, "header": "tr|A0A7I2YQX6-1|A0A7I2YQX6_HUMAN Computationally mapped isoform of Pro-cathepsin H OS=Homo sapiens OX=9606 GN=CTSH PE=1 SV=1 CANONICAL=P09668-1" }, "locus": { "chromosome": "15", "start_pos": 78937318, "end_pos": 78922133, "strand": "+", 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Riese R, Ploegh HL, Chapman HA", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "10072072", "url": "https://glygen.org/publication/PubMed/10072072" } ] }, { "title": "Crystal structure of the trimeric alpha-helical coiled-coil and the three lectin domains of human lung surfactant protein D.", "journal": "Structure (London, England : 1993)", "date": "1999", "authors": "Hakansson K, Lim NK, Hoppe HJ, Reid KB", "evidence": [ { "database": "Reactome", "id": "R-HSA-5683826", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5683826" } ], "reference": [ { "type": "PubMed", "id": "10368295", "url": "https://glygen.org/publication/PubMed/10368295" } ] }, { "title": "Direct transport of newly synthesized HLA-DR from the trans-Golgi network to major histocompatibility complex class II containing compartments (MIICS) demonstrated using a novel tyrosine-sulfated chimera.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Davidson HW", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "10480952", "url": "https://glygen.org/publication/PubMed/10480952" } ] }, { "title": "Cloning of gp-340, a putative opsonin receptor for lung surfactant protein D.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1999", "authors": "Holmskov U, Mollenhauer J, Madsen J, Vitved L, Gronlund J, Tornoe I, Kliem A, Reid KB, Poustka A, Skjodt K", "evidence": [ { "database": "Reactome", "id": "R-HSA-5683826", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5683826" } ], "reference": [ { "type": "PubMed", "id": "10485905", "url": "https://glygen.org/publication/PubMed/10485905" } ] }, { "title": "Characterization of human A(2B) adenosine receptors: radioligand 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aspartic protease family, is abundantly expressed in normal lung and kidney tissue and is expressed in lung adenocarcinomas.", "journal": "FEBS letters", "date": "1999", "authors": "Chuman Y, Bergman A, Ueno T, Saito S, Sakaguchi K, Alaiya AA, Franzen B, Bergman T, Arnott D, Auer G, Appella E, Jornvall H, Linder S", "evidence": [ { "database": "Reactome", "id": "R-HSA-5683826", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5683826" } ], "reference": [ { "type": "PubMed", "id": "10580105", "url": "https://glygen.org/publication/PubMed/10580105" } ] }, { "title": "The leucine-based sorting motifs in the cytoplasmic domain of the invariant chain are recognized by the clathrin adaptors AP1 and AP2 and their medium chains.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Hofmann MW, Honing S, Rodionov D, Dobberstein B, von Figura K, Bakke O", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": 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"2000", "authors": "Zhang T, Maekawa Y, Hanba J, Dainichi T, Nashed BF, Hisaeda H, Sakai T, Asao T, Himeno K, Good RA, Katunuma N", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "10809954", "url": "https://glygen.org/publication/PubMed/10809954" } ] }, { "title": "Secretion of surfactant protein C, an integral membrane protein, requires the N-terminal propeptide.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Conkright JJ, Bridges JP, Na CL, Voorhout WF, Trapnell B, Glasser SW, Weaver TE", "evidence": [ { "database": "Reactome", "id": "R-HSA-5683826", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5683826" } ], "reference": [ { "type": "PubMed", "id": "11278984", "url": "https://glygen.org/publication/PubMed/11278984" } ] }, { "title": "Trans-Golgi network sorting.", "journal": "Cellular and molecular life sciences : CMLS", "date": "2001", "authors": "Gu F, Crump CM, Thomas G", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "11529500", "url": "https://glygen.org/publication/PubMed/11529500" } ] }, { "title": "Human salivary agglutinin binds to lung surfactant protein-D and is identical with scavenger receptor protein gp-340.", "journal": "The Biochemical journal", "date": "2001", "authors": "Ligtenberg TJ, Bikker FJ, Groenink J, Tornoe I, Leth-Larsen R, Veerman EC, Nieuw Amerongen AV, Holmskov U", "evidence": [ { "database": "Reactome", "id": "R-HSA-5683826", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5683826" } ], "reference": [ { "type": "PubMed", "id": "11563989", "url": "https://glygen.org/publication/PubMed/11563989" } ] }, { "title": "Presentation of antigens by MHC class II molecules: getting the most out of them.", "journal": "Molecular immunology", "date": "2001", "authors": "Villadangos JA", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "11684289", "url": "https://glygen.org/publication/PubMed/11684289" } ] }, { "title": "Trafficking of MHC class II molecules in the late secretory pathway.", "journal": "Current opinion in immunology", "date": "2002", "authors": "Hiltbold EM, Roche PA", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "11790530", "url": "https://glygen.org/publication/PubMed/11790530" } ] }, { "title": "Analysis of a truncated form of cathepsin H in human prostate tumor cells.", "journal": "J. Biol. Chem.", "date": "2002", "authors": "Waghray Anuradha, Keppler Daniel, Sloane Bonnie F, Schuger Lucia, Chen Yong Q", "evidence": [ { "database": "UniProtKB", "id": "P09668", "url": "https://www.uniprot.org/uniprot/P09668" } ], "reference": [ { "type": "PubMed", "id": "11796715", "url": "https://glygen.org/publication/PubMed/11796715" } ] }, { "title": "Specific role for cathepsin S in the generation of antigenic peptides in vivo.", "journal": "European journal of immunology", "date": "2002", "authors": "Pluger EB, Boes M, Alfonso C, Schroter CJ, Kalbacher H, Ploegh HL, Driessen C", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "11813165", "url": "https://glygen.org/publication/PubMed/11813165" } ] }, { "title": "Multiple roles of the invariant chain in MHC class II function.", "journal": "Biochimica et biophysica acta", "date": "2002", "authors": 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