{ "uniprot_canonical_ac": "A6NJU9-1", "uniprot_ac": "A6NJU9", "uniprot_id": "NPB13_HUMAN", "mass": { "chemical_mass": 125964.0, "monoisotopic_mass": 125964.0 }, "refseq": { "ac": "NP_001308821", "name": "nuclear pore complex-interacting protein family member B13", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001308821" }, "gene_names": [ { "name": "NPIPB12", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/A6NJU9", "id": "A6NJU9" }, { "name": "NPIPB13", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/A6NJU9", "id": "A6NJU9" }, { "name": "NPIPB4", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/A6NJU9", "id": "A6NJU9" }, { "name": "NPIPB5", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/A6NJU9", "id": "A6NJU9" }, { "name": "NPIPB12", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A6NJU9", "id": "A6NJU9" }, { "name": "NPIPB13", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001308821", "id": "NP_001308821" }, { "name": "NPIPB13", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A6NJU9", "id": "A6NJU9" }, { "name": "NPIPB4", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A6NJU9", "id": "A6NJU9" }, { "name": "NPIPB5", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A6NJU9", "id": "A6NJU9" } ], "protein_names": [ { "name": "Nuclear pore complex-interacting protein family member B13", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "A6NJU9" }, { "name": "nuclear pore complex interacting protein member; Putative NPIP-like protein LOC613037", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001308821", "id": "NP_001308821" }, { "name": "nuclear pore complex-interacting protein family member B13", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001308821", "id": "NP_001308821" } ], "function": [], "disease": [], "snv": [], "mutagenesis": [], "expression_tissue": [], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "A6NJU9", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A6NJU9" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "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": "Yes", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "A6NJU9", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A6NJU9" } ], "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": "A6NJU9", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A6NJU9" } ], "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 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 the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "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": "up", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "A6NJU9", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A6NJU9" } ], "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": "A6NJU9", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A6NJU9" } ], "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 kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "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 kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "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": "A6NJU9", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A6NJU9" } ], "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": "A6NJU9", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A6NJU9" } ], "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": "A6NJU9", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A6NJU9" } ], "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": "A6NJU9", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A6NJU9" } ], "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": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "A6NJU9", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A6NJU9" } ], "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": "No", "trend": "down", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "A6NJU9", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A6NJU9" } ], "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": "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": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Aerodigestive tract cancer, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Escc, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "gastric cardia adenocarcinoma, susceptibility to", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Colorectal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:9256", "evidence": [ { "database": "BioXpress", "id": "A6NJU9", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A6NJU9" } ], "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "A6NJU9", "url": "https://www.uniprot.org/uniprot/A6NJU9" } ], "common_name": "Human" } ], "gene": [ { "name": "NPIPB13", "url": "https://www.uniprot.org/uniprot/A6NJU9", "locus": { "chromosome": "HG926_PATCH", "start_pos": 1702604, "end_pos": 1679674, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000284454", "url": "https://www.ensembl.org/id/ENSG00000284454" } ] } } ], "crossref": [ { "id": "ENSG00000169203", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000169203", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "ENSG00000185864", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000185864", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "ENSG00000198064", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198064", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "ENSG00000243716", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000243716", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "NPIPB13", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=NPIPB13", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "440345", "url": "https://www.ncbi.nlm.nih.gov/gene/440345", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "613037", "url": "https://www.ncbi.nlm.nih.gov/gene/613037", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "37233", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=37233", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "37491", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=37491", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "41985", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=41985", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "41989", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=41989", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "IPR009443", "url": "https://www.ebi.ac.uk/interpro/entry/IPR009443", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR048893", "url": "https://www.ebi.ac.uk/interpro/entry/IPR048893", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:440345", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:440345", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "hsa:613037", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:613037", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "NX_A6NJU9", "url": "https://www.nextprot.org/entry/NX_A6NJU9", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "DIPCSEL", "url": "https://omabrowser.org/oma/group/DIPCSEL/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "KPPPECL", "url": "https://omabrowser.org/oma/group/KPPPECL/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "MSICPSH", "url": "https://omabrowser.org/oma/group/MSICPSH/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "4662119at2759", "url": "http://www.orthodb.org/?query=4662119at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR15438", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR15438", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR15438:SF14", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR15438:SF14", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR15438:SF5", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR15438:SF5", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF06409", "url": "http://pfam.xfam.org/family/PF06409", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF20885", "url": "http://pfam.xfam.org/family/PF20885", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "A6NJU9", "url": "https://pharos.nih.gov/targets/A6NJU9", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_A6NJU9", "url": "http://purl.obolibrary.org/obo/PR_A6NJU9", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_001308821", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001308821", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A0A087WT63", "url": "https://www.uniprot.org/uniprot/A0A087WT63", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A087WT63-1", "url": "https://www.uniprot.org/uniprot/A0A087WT63-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A087WXW0", "url": "https://www.uniprot.org/uniprot/A0A087WXW0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A087WXW0-1", "url": "https://www.uniprot.org/uniprot/A0A087WXW0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1P7U241", "url": "https://www.uniprot.org/uniprot/A0A1P7U241", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1P7U241-1", "url": "https://www.uniprot.org/uniprot/A0A1P7U241-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A804HK81", "url": "https://www.uniprot.org/uniprot/A0A804HK81", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A804HK81-1", "url": "https://www.uniprot.org/uniprot/A0A804HK81-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8V8TKT1", "url": "https://www.uniprot.org/uniprot/A0A8V8TKT1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8V8TKT1-1", "url": "https://www.uniprot.org/uniprot/A0A8V8TKT1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8V8TKU4", "url": "https://www.uniprot.org/uniprot/A0A8V8TKU4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8V8TKU4-1", "url": "https://www.uniprot.org/uniprot/A0A8V8TKU4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8V8TL61", "url": "https://www.uniprot.org/uniprot/A0A8V8TL61", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8V8TL61-1", "url": "https://www.uniprot.org/uniprot/A0A8V8TL61-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8V8TM43", "url": "https://www.uniprot.org/uniprot/A0A8V8TM43", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8V8TM43-1", "url": "https://www.uniprot.org/uniprot/A0A8V8TM43-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8V8TMC5", "url": "https://www.uniprot.org/uniprot/A0A8V8TMC5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8V8TMC5-1", "url": "https://www.uniprot.org/uniprot/A0A8V8TMC5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A6NJU9", "url": "https://www.uniprot.org/uniprot/A6NJU9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A6NJU9-1", "url": "https://www.uniprot.org/uniprot/A6NJU9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JB18", "url": "https://www.uniprot.org/uniprot/C9JB18", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JB18-1", "url": "https://www.uniprot.org/uniprot/C9JB18-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E5RHP9", "url": "https://www.uniprot.org/uniprot/E5RHP9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E5RHP9-1", "url": "https://www.uniprot.org/uniprot/E5RHP9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E7EQW1", "url": "https://www.uniprot.org/uniprot/E7EQW1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E7EQW1-1", "url": "https://www.uniprot.org/uniprot/E7EQW1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PKP1", "url": "https://www.uniprot.org/uniprot/E9PKP1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PKP1-1", "url": "https://www.uniprot.org/uniprot/E9PKP1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F5GWQ4", "url": "https://www.uniprot.org/uniprot/F5GWQ4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F5GWQ4-1", "url": "https://www.uniprot.org/uniprot/F5GWQ4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F5GXZ6", "url": "https://www.uniprot.org/uniprot/F5GXZ6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F5GXZ6-1", "url": "https://www.uniprot.org/uniprot/F5GXZ6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F5GYP3", "url": "https://www.uniprot.org/uniprot/F5GYP3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F5GYP3-1", "url": "https://www.uniprot.org/uniprot/F5GYP3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F5GZP9", "url": "https://www.uniprot.org/uniprot/F5GZP9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F5GZP9-1", "url": "https://www.uniprot.org/uniprot/F5GZP9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F5H108", "url": "https://www.uniprot.org/uniprot/F5H108", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F5H108-1", "url": "https://www.uniprot.org/uniprot/F5H108-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F5H5F2", "url": "https://www.uniprot.org/uniprot/F5H5F2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F5H5F2-1", "url": "https://www.uniprot.org/uniprot/F5H5F2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F5H8A1", "url": "https://www.uniprot.org/uniprot/F5H8A1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F5H8A1-1", "url": "https://www.uniprot.org/uniprot/F5H8A1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F6SDX0", "url": "https://www.uniprot.org/uniprot/F6SDX0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F6SDX0-1", "url": "https://www.uniprot.org/uniprot/F6SDX0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YIK9", "url": "https://www.uniprot.org/uniprot/H0YIK9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YIK9-1", "url": "https://www.uniprot.org/uniprot/H0YIK9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YIL3", "url": "https://www.uniprot.org/uniprot/H0YIL3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YIL3-1", "url": "https://www.uniprot.org/uniprot/H0YIL3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YIQ3", "url": "https://www.uniprot.org/uniprot/H0YIQ3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YIQ3-1", "url": "https://www.uniprot.org/uniprot/H0YIQ3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YIQ5", "url": "https://www.uniprot.org/uniprot/H0YIQ5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YIQ5-1", "url": "https://www.uniprot.org/uniprot/H0YIQ5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BQU5", "url": "https://www.uniprot.org/uniprot/H3BQU5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BQU5-1", "url": "https://www.uniprot.org/uniprot/H3BQU5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "U3KRG3", "url": "https://www.uniprot.org/uniprot/U3KRG3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "U3KRG3-1", "url": "https://www.uniprot.org/uniprot/U3KRG3-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MVKLSIVLTPQFLSHDQGQLTKELQQHVKSVTCPCEYLRKVINTLADHHHRGTDFGGSPWLHVIIAFPTSYKVVITLWIVYLWVSLLKTIFWSRNGHDGSTDVQQRAWRSNRRRQEGLRSICMHTKKRVSSFRGNKIGLKDVITLRRHVETKVRAKIRKRKVTTKINHHDKINGKRKTARKQKMFQRAQELRRRAEDYHKCKIPPSARKALCNWVRMAAAEHRHSSGLPYWPYLTAETLKNRMGHQPPPPTQQHSITDNSLSLKTPPECVLTPLPPSADDNLKTPPECVLTPLPPSADDNLKTPPECLLTPLPPSADDNLKTPPECLLTPLPPSADDNLKTPPECLLTPLPPSAPPSAPPSADDNLKTRAECLLHPLPPSADDNLKTPSERQLTPLPPSAPPSADDNIKTPAERLRGPLPPSADDNLKTPSERQLTPLPPSAPPSADDNIKTPAERLRGPLPPSADDNLKTPSERQLTPLPPSAPPSADDNIKTPAERLRGPLPPSADDNLKTPSERQLTPLPPSAPPSADDNIKTPAERLRGPLPPSADDNLKTPSERQLTPLPPSAPPSADDNIKTPAFHPQRMIISRHLPSVSSLPFHPQLHSQQMIISRYLLSVCGFRFHHQPMIISRHLPSVSSLPFHPQLHPQQMIISRHLPSVCGGRFHPQRMIISRHLPSVSSLPFHPQLHPQQMIISRHLPSVCGGRFHPQRMIISRHLPSVSSLPFHPQLHPQQMIISRHLPSVCGERLRGPLPPSADDNLKTPSERQLTPLPPSAPPSADDNIKTPAERLRRPLPPSADDNLKTPSERQLTPLPPSAPPSADDNIKTPAERLRGPLPPSADDNLKTPSERQLTPLPPSAPPSADDNIKTPAERLRGPLPPSADDNLKTPSERQLTPLPPSAPPSADDNIKTPAERLRGPLPPSADDNLKTPSERQLTPLPPSAPPSADDNIKTPAERLRGPLPPSADDNLKTPSERQLTPLPPSAPPSADDNIKTPAERLRGPLPPSADDNLKTPPLATQEAEAEKPRKPKRQRAAEMEPPPEPKRRRVGDVEPSRKPKRRRAADVEPSSPKPKRRRVGDVEPSRKPKRRRAADVEPSSPEPKRRRVGDVEPSRKPKRRRAADVEPSSPEPKRRRLS", "length": 1138, "header": "sp|A6NJU9-1|NPB13_HUMAN Isoform 1 of Nuclear pore complex-interacting protein family member B13 OS=Homo sapiens OX=9606 GN=NPIPB13 PE=3 SV=4 CANONICAL=A6NJU9-1" }, "isoforms": [ { "isoform_ac": "A0A087WT63-1", "url": "", "sequence": { "sequence": "MRVRWMLFWLLFGLLLEFISHQCISVINTLADHHHRGTDFGGSPWLHVIIAFPTSYKVVITLWIVYLWVSLLKTIFWSRNGHDGSTDVQQRAWRSNRRRQEGNKIVLKDVITLRRHVETKVRAKIRKRKVTTKINHHDKINGKRKTARKQKMFQRAQELRRRAEDYHKCKIPPSARKALCNWVSLLVFLAFGHSLPGQDMDTFFSLQLCAQALQREMAERKAAYKHHSPIPVGNRVAQKHLHPHPVGPLI", "length": 250, "header": "tr|A0A087WT63-1|A0A087WT63_HUMAN Computationally mapped isoform of Nuclear pore complex interacting protein family member B4 OS=Homo sapiens OX=9606 GN=NPIPB4 PE=3 SV=1 CANONICAL=A6NJU9-1" }, "locus": { "chromosome": "16", "start_pos": 21851153, "end_pos": 21838901, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000614197.4", "url": "https://www.ensembl.org/id/ENST00000614197.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000477616.1", "url": "https://www.ensembl.org/id/ENSP00000477616.1" } ] } }, { "isoform_ac": "A0A087WXW0-1", "url": "", "sequence": { "sequence": "VSLLKTIFWSRNGHDGSTDVQQRAWRSNRRRQEGNKIGLKDVITLRRHVETKVRAKIRKRKVTTKINHHDKINGKRKTARKQKMFQRAQELRRRAEDYHKCKIPPSARKALCNWVSLLVFLAFGHSLPGQDMDTFFSLQLCAQALQREMAERKAAYKHHSPIPVGNRVAQKHLHPHPVGPLI", "length": 182, "header": "tr|A0A087WXW0-1|A0A087WXW0_HUMAN Computationally mapped isoform of Nuclear pore complex interacting protein family member B5 OS=Homo sapiens OX=9606 GN=NPIPB5 PE=3 SV=1 CANONICAL=A6NJU9-1" }, "locus": { "chromosome": "16", "start_pos": 22532469, "end_pos": 22527566, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000621622.5", "url": "https://www.ensembl.org/id/ENST00000621622.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000481340.2", "url": "https://www.ensembl.org/id/ENSP00000481340.2" } ] } }, { "isoform_ac": "A0A1P7U241-1", "url": "", "sequence": { "sequence": "HVIIAFPTSYKVVITLWIVYLWVSLLKTIFWSRNGHDGSTDVQQRAWRSNRRRQEGFSPSPLLTLTKG", "length": 68, "header": "tr|A0A1P7U241-1|A0A1P7U241_HUMAN Computationally mapped isoform of Nuclear pore complex interacting protein family, member B13 OS=Homo sapiens OX=9606 GN=NPIPB13 PE=3 SV=1 CANONICAL=A6NJU9-1" }, "locus": { "chromosome": "16", "start_pos": 30235516, "end_pos": 30231633, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000562937.5", "url": "https://www.ensembl.org/id/ENST00000562937.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000455364.1", "url": "https://www.ensembl.org/id/ENSP00000455364.1" } ] } }, { "isoform_ac": "A0A804HK81-1", "url": "", "sequence": { "sequence": "MVKLSIVLTPQFLSHDQGQLTKELQQHVKSVTCPCEYLRKVINTLADHHHRGTDFGGSPWLHVIIAFPTSYKVVITLWIVYLWVSLLKTIFWSRNGHDGSTDVQQRAWRSNRRRQEGLRSICMHTKKRVSSFRGNKIVLKDVITLRRHVETKVRAKIRKRKVTTKINHHDKINGKRKTARKQKMFQRAQELRRRAEDYHKCKIPPSARKALCNWVRMAAAEHRHSSGLPYWPYLTAETLKNRMGHQPPPPTQQHSITDNSLSLKTPPECLLTPLPPSADDNLKTPPECVLTPLPPSADDNLKTPPECVLTPLPPSADDNLKTPPECLLTPLPPSADDKLKTPPECLLTPLPPSALPSAPPSADDNLKTRAECLLHPLPPSADDNLKTPSERQLTPLPPSAPPSADDNIKTPAERLRGPLPPSADDNLKTPSERQLTPLPPSAPPSADDNIKTPAERLRGPLPPSADDNLKTPSERQLTPLPPSAPPSADDNIKTPAERLRGPLPPSADDNLKTPSERQLTPLPPSAPPSADDNIKTPAERLRGPLPPSADDNLKTPSERQLTPLPPSAPPSADDNIKTPAERLRGPLPPSADDNLKTPSERQLTPLPPSAPPSADDNIKTPAFHPQRMIISRHLPSVSSLPFHPQLHPQQMIISRYLLSVCGFRFHHQPMIISRHLPSVSSLPFHPQLHPQQMIISRHLPSVCGGRFHPQRMIISRHLPSVSSLPFHPQLHPQQMIISRHLPSVCGGRFHPQRMIISRHLPSVSSLPFHPQLHPQQMIISRHLPSVCGGRFHPQRMIISRHLPSVSSLPFHTQLHPQQMIISRHLPSVCGERLRGPLPPSADDNLKTPSERQLTPLPPSAPPSADDNIKTPAERLRGPLPPSADDNLKTPSERQLTPLPPSAPPSADDNIKTPAERLRGPLPPSADDNLKTPSERQLTPLPPSAPPSADDNIKTPAERLRGPLPPSADDNLKTPSERQLTPLPPSAPPSADDNIKTPAERLRGPLPPSADDNLKTPSERQLTPLPPSAPPSADDNIKTPAERLRGPLPPSADDNLKTPSERQLTPLPPSAPPSADDNIKTPAERLRGPLPPSADDNLKTPPLATQEAEAEKPRKPKRQRAAEMEPPPEPKRRRVGDVEPSRKPKRRRAADVEPSSPEPKRRRVGDVEPSRKPKRRRAADVEPSSPEPKRRRVGDVEPSRKPKRRRAADVEPSLPEPKRRRLS", "length": 1222, "header": "tr|A0A804HK81-1|NPB13_HUMAN Computationally mapped isoform of Nuclear pore complex-interacting protein family member B13 OS=Homo sapiens OX=9606 GN=NPIPB13 PE=3 SV=1 CANONICAL=A6NJU9-1" }, "locus": { "chromosome": "16", "start_pos": 21857378, "end_pos": 21834721, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000682606.1", "url": "https://www.ensembl.org/id/ENST00000682606.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000507812.1", "url": "https://www.ensembl.org/id/ENSP00000507812.1" } ] } }, { "isoform_ac": "A0A8V8TKT1-1", "url": "", "sequence": { "sequence": "MVKLSIVLTPQFLSHDQGQLTKELQQHVKSVTCPCEYLRKVINTLADHHHRGTDFGGSPWLHVIIAFPTSYKVVITLWIVYLWVSLLKTIFWSRNGHDGSTDVQQRAWRSNRRRQEGLRSICMHTKKRVSSFRGNKIGLKDVITLRRHVETKVRAKIRKRKVTTKINHHDKINGKRKTARKQKMFQRAQELRRRAEDYHKCKIPPSARKALCNWVRMAAAEHRHSSGLPYWPYLTAETLKNRMGHQPPPPTQQHSITDNSLSLKTPPECVLTPLPPSADDNLKTPPECVL", "length": 290, "header": "tr|A0A8V8TKT1-1|NPB13_HUMAN Computationally mapped isoform of Nuclear pore complex-interacting protein family member B13 OS=Homo sapiens OX=9606 GN=NPIPB13 PE=3 SV=1 CANONICAL=A6NJU9-1" }, "locus": { "chromosome": "16", "start_pos": 30245573, "end_pos": 30225576, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000697191.1", "url": "https://www.ensembl.org/id/ENST00000697191.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000513178.1", "url": "https://www.ensembl.org/id/ENSP00000513178.1" } ] } }, { "isoform_ac": "A0A8V8TKU4-1", "url": "", "sequence": { "sequence": "MVKLSIVLTPQFLSHDQGQLTKELQQHVKSVTCPCEYLRKVINTLADHHHRGTDFGGSPWLHVIIAFPTSYKVVITLWIVYLWVSLLKTIFWSRNGHDGSTDVQQRAWRSNRRRQEGLRSICMHTKKRVSSFRGNKIGLKDVITLRRHVETKVRAKIRKRKVTTKINHHDKINGKRKTARKQKMFQRAQELRRRAEDYHKCKIPPSARKALCNWVRMAAAEHRHSSGLPYWPYLTAETLKNRMGHQPPPPTQQHSITDNSLSLKTPPECVLTPLPPSADDNLKTPPECVLTPLPPSADDNLKTPPECLLTPLPPSADDNLKTPPECLLTPLPPSADDNLKTPPECLLTPLPPSAPPSAPPSADDNLKTRAECLLHPLPPSADDNLKTPSERQLTPLPPSAPPSADDNIKTPAERLRGPLPPSADDNLKTPSERQLTPLPPSAPPSADDNIKTPAERLRGPLPPSADDNLKTPSERQLTPLPPSAPPSADDNIKTPAERLRGPLPPSADDNLKTPSERQLTPLPPSAPPSADDNIKTPAERLRGPLPPSADDNLKTPSERQLTPLPPSAPPSADDNIKTPAFHPQRMIISRHLPSVSSLPFHPQLHSQQMIISRYLLSVCGFRFHHQPMIISRHLPSVSSLPFHPQLHPQQMIISRHLPSVCGGRF", "length": 665, "header": "tr|A0A8V8TKU4-1|A0A8V8TKU4_HUMAN Computationally mapped isoform of Nuclear pore complex interacting protein family, member B13 OS=Homo sapiens OX=9606 GN=NPIPB13 PE=3 SV=1 CANONICAL=A6NJU9-1" }, "locus": { "chromosome": "16", "start_pos": 30245573, "end_pos": 30224451, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000697187.1", "url": "https://www.ensembl.org/id/ENST00000697187.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000513174.1", "url": "https://www.ensembl.org/id/ENSP00000513174.1" } ] } }, { "isoform_ac": "A0A8V8TL61-1", "url": "", "sequence": { "sequence": "MVKLSIVLTPQFLSHDQGQLTKELQQHVKSVTCPCEYLRKVINTLADHHHRGTDFGGSPWLHVIIAFPTSYKVVITLWIVYLWVSLLKTIFWSRNGHDGSTDVQQRAWRSNRRRQEGLRSICMHTKKRVSSFRGNKIGLKDVITLRRHVETKVRAKIRKRKVTTKINHHDKINGKRKTARKQKMFQRAQELRRRAEDYHKCKIPPSARKALCNWVRMAAAEHRHSSGLPYWPYLTAETLKNRMGHQPPPPTQQHSITDNSLSLKTPPECVLTPLPPSADDNLKTPPECVLTPLPPSADDNLKTPPECLLTPLPPSADDNLKTPPECLLTPLPPSADDNLKTPPECLLTPLPPSAPPS", "length": 357, "header": "tr|A0A8V8TL61-1|A0A8V8TL61_HUMAN Computationally mapped isoform of Nuclear pore complex interacting protein family, member B13 OS=Homo sapiens OX=9606 GN=NPIPB13 PE=3 SV=1 CANONICAL=A6NJU9-1" }, "locus": { "chromosome": "16", "start_pos": 30245573, "end_pos": 30225375, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000697189.1", "url": "https://www.ensembl.org/id/ENST00000697189.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000513176.1", "url": "https://www.ensembl.org/id/ENSP00000513176.1" } ] } }, { "isoform_ac": "A0A8V8TM43-1", "url": "", "sequence": { "sequence": "MVKLSIVLTPQFLSHDQGQLTKELQQHVKSVTCPCEYLRKVINTLADHHHRGTDFGGSPWLHVIIAFPTSYKVVITLWIVYLWVSLLKTIFWSRNGHDGSTDVQQRAWRSNRRRQEGLRSICMHTKKRVSSFRGNKIGLKDVITLRRHVETKVRAKIRKRKVTTKINHHDKINGKRKTARKQKMFQRAQELRRRAEDYHKCKIPPSARKALCNWVRMAAAEHRHSSGLPYWPYLTAETLKNRMGHQPPPPTQQHSITDNSLSLKTPPECVLTPLPPSADDNLKTPPECVLTPLPPSADDNLKTPPECLLTPLPPSADDNLKTPPECLLTPLPPSADDNLKTPPECLLTPLPPSAPPSAPPSADDNLKTRAECLLHPLPPSADDNLKTPSERQLTPLPP", "length": 398, "header": "tr|A0A8V8TM43-1|A0A8V8TM43_HUMAN Computationally mapped isoform of Nuclear pore complex interacting protein family, member B13 OS=Homo sapiens OX=9606 GN=NPIPB13 PE=3 SV=1 CANONICAL=A6NJU9-1" }, "locus": { "chromosome": "16", "start_pos": 30245573, "end_pos": 30225252, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000697188.1", "url": "https://www.ensembl.org/id/ENST00000697188.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000513175.1", "url": "https://www.ensembl.org/id/ENSP00000513175.1" } ] } }, { "isoform_ac": "A0A8V8TMC5-1", "url": "", "sequence": { "sequence": "MHTKKRVSSFRGNKIGLKDVITLRRHVETKVRAKIRKRKVTTKINHHDKINGKRKTARKQKMFQRAQELRRRAEDYHKCKIPPSARKALCNWVRMAAAEHRHSSGLPYWPYLTAETLKNRMGHQPPPPTQQHSITDNSLSLKTPPECVLTPLPPSADDNLKTPPECVLTPLPPSADDNLKTPPECLLTPLPPSADDNLKT", "length": 200, "header": "tr|A0A8V8TMC5-1|A0A8V8TMC5_HUMAN Computationally mapped isoform of Nuclear pore complex interacting protein family, member B13 OS=Homo sapiens OX=9606 GN=NPIPB13 PE=3 SV=1 CANONICAL=A6NJU9-1" }, "locus": { "chromosome": "16", "start_pos": 30231618, "end_pos": 30225480, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000697190.1", "url": "https://www.ensembl.org/id/ENST00000697190.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000513177.1", "url": "https://www.ensembl.org/id/ENSP00000513177.1" } ] } }, { "isoform_ac": "A6NJU9-1", "url": "", "sequence": { "sequence": "MVKLSIVLTPQFLSHDQGQLTKELQQHVKSVTCPCEYLRKVINTLADHHHRGTDFGGSPWLHVIIAFPTSYKVVITLWIVYLWVSLLKTIFWSRNGHDGSTDVQQRAWRSNRRRQEGLRSICMHTKKRVSSFRGNKIGLKDVITLRRHVETKVRAKIRKRKVTTKINHHDKINGKRKTARKQKMFQRAQELRRRAEDYHKCKIPPSARKALCNWVRMAAAEHRHSSGLPYWPYLTAETLKNRMGHQPPPPTQQHSITDNSLSLKTPPECVLTPLPPSADDNLKTPPECVLTPLPPSADDNLKTPPECLLTPLPPSADDNLKTPPECLLTPLPPSADDNLKTPPECLLTPLPPSAPPSAPPSADDNLKTRAECLLHPLPPSADDNLKTPSERQLTPLPPSAPPSADDNIKTPAERLRGPLPPSADDNLKTPSERQLTPLPPSAPPSADDNIKTPAERLRGPLPPSADDNLKTPSERQLTPLPPSAPPSADDNIKTPAERLRGPLPPSADDNLKTPSERQLTPLPPSAPPSADDNIKTPAERLRGPLPPSADDNLKTPSERQLTPLPPSAPPSADDNIKTPAFHPQRMIISRHLPSVSSLPFHPQLHSQQMIISRYLLSVCGFRFHHQPMIISRHLPSVSSLPFHPQLHPQQMIISRHLPSVCGGRFHPQRMIISRHLPSVSSLPFHPQLHPQQMIISRHLPSVCGGRFHPQRMIISRHLPSVSSLPFHPQLHPQQMIISRHLPSVCGERLRGPLPPSADDNLKTPSERQLTPLPPSAPPSADDNIKTPAERLRRPLPPSADDNLKTPSERQLTPLPPSAPPSADDNIKTPAERLRGPLPPSADDNLKTPSERQLTPLPPSAPPSADDNIKTPAERLRGPLPPSADDNLKTPSERQLTPLPPSAPPSADDNIKTPAERLRGPLPPSADDNLKTPSERQLTPLPPSAPPSADDNIKTPAERLRGPLPPSADDNLKTPSERQLTPLPPSAPPSADDNIKTPAERLRGPLPPSADDNLKTPPLATQEAEAEKPRKPKRQRAAEMEPPPEPKRRRVGDVEPSRKPKRRRAADVEPSSPKPKRRRVGDVEPSRKPKRRRAADVEPSSPEPKRRRVGDVEPSRKPKRRRAADVEPSSPEPKRRRLS", "length": 1138, "header": "sp|A6NJU9-1|NPB13_HUMAN Isoform 1 of Nuclear pore complex-interacting protein family member B13 OS=Homo sapiens OX=9606 GN=NPIPB13 PE=3 SV=4 CANONICAL=A6NJU9-1" }, "locus": { "chromosome": "16", "start_pos": 30245573, "end_pos": 30223032, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000697092.1", "url": "https://www.ensembl.org/id/ENST00000697092.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000513103.1", "url": "https://www.ensembl.org/id/ENSP00000513103.1" } ] } }, { "isoform_ac": "C9JB18-1", "url": "", "sequence": { "sequence": "MVKLSIVLTPQFLSHDQGQLTKELQQHVKSVTCPCEYLRKVINTLADHHHRGTDFGGSPWLHVIIAFPTSYKVVITLWIVYLWVSLLKTIFWSRNGHDGSTDVQQRAWRSNRRRQEGLRSICMHTKKRVSSFRGNKIVLKDVITLRRHVETKVRAKIRKRKV", "length": 162, "header": "tr|C9JB18-1|C9JB18_HUMAN Computationally mapped isoform of Nuclear pore complex interacting protein family member B4 OS=Homo sapiens OX=9606 GN=NPIPB4 PE=3 SV=9 CANONICAL=A6NJU9-1" }, "locus": { "chromosome": "16", "start_pos": 21857378, "end_pos": 21843445, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000341400.11", "url": "https://www.ensembl.org/id/ENST00000341400.11" }, { "database": "Ensembl Peptide", "id": "ENSP00000339196.7", "url": "https://www.ensembl.org/id/ENSP00000339196.7" } ] } }, { "isoform_ac": "E5RHP9-1", "url": "", "sequence": { "sequence": "MVKLSIVLTPQFLSHDQGQLTKELQQHVKSVTCPCEYLRKVDGRMATWM", "length": 49, "header": "tr|E5RHP9-1|E5RHP9_HUMAN Computationally mapped isoform of Nuclear pore complex interacting protein family, member B13 OS=Homo sapiens OX=9606 GN=NPIPB4 PE=3 SV=1 CANONICAL=A6NJU9-1" }, "locus": { "chromosome": "16", "start_pos": 22519164, "end_pos": 22513802, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000517347.5", "url": "https://www.ensembl.org/id/ENST00000517347.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000428548.1", "url": "https://www.ensembl.org/id/ENSP00000428548.1" } ] } }, { "isoform_ac": "E7EQW1-1", "url": "", "sequence": { "sequence": "MVKLSIVLTPQFLSHDQGQLTKELQQHVKSVTCPCEYLRKVINTLADHHHRGTDFGGSPWLHVIIAFPTSYKVVITLWIVYLWVSLLKTIFWSRNGHDGSTDVQQRAWRSNRRRQEGLRSICMHTKKRVSSFRGNKIVLKDVITLRRH", "length": 148, "header": "tr|E7EQW1-1|E7EQW1_HUMAN Computationally mapped isoform of Nuclear pore complex interacting protein family member B4 OS=Homo sapiens OX=9606 GN=NPIPB4 PE=3 SV=3 CANONICAL=A6NJU9-1" }, "locus": { "chromosome": "16", "start_pos": 21857378, "end_pos": 21843487, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000518761.8", "url": "https://www.ensembl.org/id/ENST00000518761.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000429543.4", "url": "https://www.ensembl.org/id/ENSP00000429543.4" } ] } }, { "isoform_ac": "E9PKP1-1", "url": "", "sequence": { "sequence": "MVKLSIVLTPQFLSHDQGQLTKELQQHVKSVTCPCEYLRKVINTLADHHHRGTDFGGSPWLHVIIAFPTSYKVVITLWIVYLWVSLLKTIFWSRNGHDGSTDVQQRAWRSNRRRQEGLRSICMHTKKRVSSFRGNKIGLKDVITLRRHVETKVRAKIRKRKVTTKINHHDKINGKRKTARKQKMFQRAQELRRRAEDYHKCKIPPSARKALCNWVRMAAAEHRHSSGLPYWPYLTAETLKNRMGHQPPPPTQQHSITDNSLSLKTPPECLLTPLPPSADDNLKTPPECVLTPLPPSADDNLKTPPECVLTPLPPSADDNLKTPPECLLTPLPPSADDNLKTPPECLLTPLPPSALPSAPPSADDNLKTRAECLLHPLPPSADDNLKTPSERQLTPLPPSAPPSADDNIKTPAERLRGPLPPSADDNLKTPSERQLTPLPPSAPPSADDNIKTPAERLRGPLPPSADDNLKTPSERQLTPLPPSAPPSADDNIKTPAERLRGPLPPSADDNLKTPSERQLTALPPSADDNIKTPAERLRGPLPPSADDNLKTPSERQLTPLPPSAPPSADDNIKTPAFHPQRMISRHLPSVSSLPF", "length": 595, "header": "tr|E9PKP1-1|NPB13_HUMAN Computationally mapped isoform of Nuclear pore complex-interacting protein family member B13 OS=Homo sapiens OX=9606 GN=NPIPB13 PE=3 SV=1 CANONICAL=A6NJU9-1" }, "locus": { "chromosome": "16", "start_pos": 22534768, "end_pos": 22513802, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000528249.5", "url": "https://www.ensembl.org/id/ENST00000528249.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000431553.1", "url": "https://www.ensembl.org/id/ENSP00000431553.1" } ] } }, { "isoform_ac": "F5GWQ4-1", "url": "", "sequence": { "sequence": "MVKLSIVLTPQFLSHDQGQLTKELQQHVKSVTCPCEYLRK", "length": 40, "header": "tr|F5GWQ4-1|F5GWQ4_HUMAN Computationally mapped isoform of Nuclear pore complex interacting protein family, member B13 OS=Homo sapiens OX=9606 GN=NPIPB12 PE=3 SV=1 CANONICAL=A6NJU9-1" }, "locus": { "chromosome": "16", "start_pos": 21857378, "end_pos": 21857259, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000542133.5", "url": "https://www.ensembl.org/id/ENST00000542133.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000442776.1", "url": "https://www.ensembl.org/id/ENSP00000442776.1" } ] } }, { "isoform_ac": "F5GXZ6-1", "url": "", "sequence": { "sequence": "MVKLSIVLTPQ", "length": 11, "header": "tr|F5GXZ6-1|F5GXZ6_HUMAN Computationally mapped isoform of Nuclear pore complex interacting protein family member B5 OS=Homo sapiens OX=9606 GN=NPIPB5 PE=4 SV=1 CANONICAL=A6NJU9-1" }, "locus": { "chromosome": "16", "start_pos": 22513834, "end_pos": 22513802, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000356156.7", "url": "https://www.ensembl.org/id/ENST00000356156.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000440137.1", "url": "https://www.ensembl.org/id/ENSP00000440137.1" } ] } }, { "isoform_ac": "F5GYP3-1", "url": "", "sequence": { "sequence": "MVKLSIVLTPQFLSHDQGQLTKELQQHVKSVTCPCEYLRKVINTLADHHHRGTDFGGSPWLHVIIAFPTSYKVVITLW", "length": 78, "header": "tr|F5GYP3-1|F5GYP3_HUMAN Computationally mapped isoform of Nuclear pore complex interacting protein family member B5 OS=Homo sapiens OX=9606 GN=NPIPB5 PE=3 SV=1 CANONICAL=A6NJU9-1" }, "locus": { "chromosome": "16", "start_pos": 22523933, "end_pos": 22513802, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000541154.5", "url": "https://www.ensembl.org/id/ENST00000541154.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000441303.1", "url": "https://www.ensembl.org/id/ENSP00000441303.1" } ] } }, { "isoform_ac": "F5GZP9-1", "url": "", "sequence": { "sequence": "MVKLSIVLTPQFL", "length": 13, "header": "tr|F5GZP9-1|F5GZP9_HUMAN Computationally mapped isoform of Nuclear pore complex interacting protein family member B5 OS=Homo sapiens OX=9606 GN=NPIPB5 PE=4 SV=8 CANONICAL=A6NJU9-1" }, "locus": { "chromosome": "16", "start_pos": 22513840, "end_pos": 22513802, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000536620.1", "url": "https://www.ensembl.org/id/ENST00000536620.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000444299.1", "url": "https://www.ensembl.org/id/ENSP00000444299.1" } ] } }, { "isoform_ac": "F5H108-1", "url": "", "sequence": { "sequence": "MFCCLGYEWLSGGCKTWHSAWVINTLADHHHRGTDFGGSPWLHVIIAFPTSYKVVITLWIVYLWVSLLKTIFWSRNGHDGSTDVQQRAWR", "length": 90, "header": "tr|F5H108-1|NPB13_HUMAN Computationally mapped isoform of Nuclear pore complex-interacting protein family member B13 OS=Homo sapiens OX=9606 GN=NPIPB13 PE=3 SV=1 CANONICAL=A6NJU9-1" }, "locus": { "chromosome": "16", "start_pos": 21851977, "end_pos": 21843716, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000543654.1", "url": "https://www.ensembl.org/id/ENST00000543654.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000439732.1", "url": "https://www.ensembl.org/id/ENSP00000439732.1" } ] } }, { "isoform_ac": "F5H5F2-1", "url": "", "sequence": { "sequence": "MVKLSIVLTPQFLSHDQGQLTKELQQH", "length": 27, "header": "tr|F5H5F2-1|F5H5F2_HUMAN Computationally mapped isoform of Nuclear pore complex interacting protein family member B4 OS=Homo sapiens OX=9606 GN=NPIPB4 PE=4 SV=1 CANONICAL=A6NJU9-1" }, "locus": { "chromosome": "16", "start_pos": 21857378, "end_pos": 21857298, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000544693.5", "url": "https://www.ensembl.org/id/ENST00000544693.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000443445.1", "url": "https://www.ensembl.org/id/ENSP00000443445.1" } ] } }, { "isoform_ac": "F5H8A1-1", "url": "", "sequence": { "sequence": "MVKLSIVLTPQFLSHDQGQLTKELQQHVK", "length": 29, "header": "tr|F5H8A1-1|NPB13_HUMAN Computationally mapped isoform of Nuclear pore complex-interacting protein family member B13 OS=Homo sapiens OX=9606 GN=NPIPB13 PE=3 SV=1 CANONICAL=A6NJU9-1" }, "locus": { "chromosome": "16", "start_pos": 21857378, "end_pos": 21857292, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000541674.5", "url": "https://www.ensembl.org/id/ENST00000541674.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000442065.1", "url": "https://www.ensembl.org/id/ENSP00000442065.1" } ] } }, { "isoform_ac": "F6SDX0-1", "url": "", "sequence": { "sequence": "MVKLSIVLTPQFLSHDQGQLTKELQQHVKSVTCPCEYLRKVINTLADHHHRGTDFGGSPWLHVIIAFPTSYKVVITLWIVYLWVSLLKTIFWSRNGHDGSTDVQQRAWRSNRRRQEGLRSICMHTKKRVSSFRGNKIGLKDVITLRRHVETKVRAKIRKRKVTTKINHHDKINGKRKTARKQKMFQRAQELRRRAEDYHKCKIPPSARKALCNWVRMAAAEHRHSSGLPYWPYLTAETLKNRMGHQPPPPTQQHSITDNSLSLKTPPECLLTPLPPSADDNLKTPPECVLTPLPPSADDNLKTPPECVLTPLPPSADDNLKTPPECLLTPLPPSADDNLKTPPECLLTPLPPSALPSAPPSADDNLKTRAECLLHPLPPSADDNLKTPSERQLTPLPPSAPPSADDNIKTPAERLRGPLPPSADDNLKTPSERQLTPLPPSAPPSADDNIKTPAERLRGPLPPSADDNLKTPSERQLTPLPPSAPPSADDNIKTPAERLRGPLPPSADDNLKTPSERQLTALPPSADDNIKTPAERLRGPLPPSADDNLKTPSERQLTPLPPSAPPSADDNIKTPAFHPQRMISRHLPSVSSLPF", "length": 595, "header": "tr|F6SDX0-1|F6SDX0_HUMAN Computationally mapped isoform of Nuclear pore complex interacting protein family member B5 OS=Homo sapiens OX=9606 GN=NPIPB5 PE=3 SV=1 CANONICAL=A6NJU9-1" }, "locus": { "chromosome": "16", "start_pos": 22534768, "end_pos": 22513802, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000415833.6", "url": "https://www.ensembl.org/id/ENST00000415833.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000445388.1", "url": "https://www.ensembl.org/id/ENSP00000445388.1" } ] } }, { "isoform_ac": "H0YIK9-1", "url": "", "sequence": { "sequence": "XHVKSVTCPCEYLRKVDGRMATWM", "length": 24, "header": "tr|H0YIK9-1|H0YIK9_HUMAN Computationally mapped isoform of Nuclear pore complex interacting protein family member B12 OS=Homo sapiens OX=9606 GN=NPIPB12 PE=4 SV=1 CANONICAL=A6NJU9-1" }, "locus": { "chromosome": "16", "start_pos": 29505516, "end_pos": 29500247, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000547235.5", "url": "https://www.ensembl.org/id/ENST00000547235.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000449585.1", "url": "https://www.ensembl.org/id/ENSP00000449585.1" } ] } }, { "isoform_ac": "H0YIL3-1", "url": "", "sequence": { "sequence": "HVIIAFPTSYKVVITLWIVYLWVSLLKTIFWSRNGHDGSTDVQQRAWRSNRRRQEGFSPSPLLTLTKG", "length": 68, "header": "tr|H0YIL3-1|NPB13_HUMAN Computationally mapped isoform of Nuclear pore complex-interacting protein family member B13 OS=Homo sapiens OX=9606 GN=NPIPB13 PE=3 SV=1 CANONICAL=A6NJU9-1" }, "locus": { "chromosome": "16", "start_pos": 22527780, "end_pos": 22523883, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000539604.5", "url": "https://www.ensembl.org/id/ENST00000539604.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000449628.1", "url": "https://www.ensembl.org/id/ENSP00000449628.1" } ] } }, { "isoform_ac": "H0YIQ3-1", "url": "", "sequence": { "sequence": "XLRSICMHTKKRVSSFRGNKIGLKDVITLRRHVETKVRAKIRKRKVTTKINHHDKINGKRKTARKQINHILQKDYACL", "length": 78, "header": "tr|H0YIQ3-1|NPB13_HUMAN Computationally mapped isoform of Nuclear pore complex-interacting protein family member B13 OS=Homo sapiens OX=9606 GN=NPIPB13 PE=3 SV=1 CANONICAL=A6NJU9-1" }, "locus": { "chromosome": "16", "start_pos": 29491662, "end_pos": 29488054, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000552123.1", "url": "https://www.ensembl.org/id/ENST00000552123.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000449864.1", "url": "https://www.ensembl.org/id/ENSP00000449864.1" } ] } }, { "isoform_ac": "H0YIQ5-1", "url": "", "sequence": { "sequence": "HVIIAFPTSYKVVITLWIVYLWVSLLKTIFWSRNGHDGSTDVQQRAWRSNRRRQEGFSPSPLLTLTKG", "length": 68, "header": "tr|H0YIQ5-1|H0YIQ5_HUMAN Computationally mapped isoform of Nuclear pore complex interacting protein family member B12 OS=Homo sapiens OX=9606 GN=NPIPB12 PE=3 SV=1 CANONICAL=A6NJU9-1" }, "locus": { "chromosome": "16", "start_pos": 29495544, "end_pos": 29491660, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000549733.5", "url": "https://www.ensembl.org/id/ENST00000549733.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000449873.1", "url": "https://www.ensembl.org/id/ENSP00000449873.1" } ] } }, { "isoform_ac": "H3BQU5-1", "url": "", "sequence": { "sequence": "MVKLSIVLTPQFLSHDQGQLTKELQQHVKSVTCPCEYLRKVINTLADHHHRGTDFGGSPWLHVIIAFPTSYKVVITLWIVYLWV", "length": 84, "header": "tr|H3BQU5-1|H3BQU5_HUMAN Computationally mapped isoform of Nuclear pore complex interacting protein family, member B13 OS=Homo sapiens OX=9606 GN=NPIPB13 PE=3 SV=1 CANONICAL=A6NJU9-1" }, "locus": { "chromosome": "16", "start_pos": 30245573, "end_pos": 30231845, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000568053.6", "url": "https://www.ensembl.org/id/ENST00000568053.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000455945.1", "url": "https://www.ensembl.org/id/ENSP00000455945.1" } ] } }, { "isoform_ac": "U3KRG3-1", "url": "", "sequence": { "sequence": "MVKLSIVLTPQFLSHDQGQLTKELQQHVKSVTCPCEYLRKVINTLADHHHRGTDFGGSPWLHVIIAFPTSYKVVITLWIVYLWVSLLKTIFWSRNGHDGSTDVQ", "length": 104, "header": "tr|U3KRG3-1|U3KRG3_HUMAN Computationally mapped isoform of Nuclear pore complex interacting protein family member B5 OS=Homo sapiens OX=9606 GN=NPIPB5 PE=3 SV=1 CANONICAL=A6NJU9-1" }, "locus": { "chromosome": "16", "start_pos": 22527628, "end_pos": 22513802, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000543407.5", "url": "https://www.ensembl.org/id/ENST00000543407.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000442912.1", "url": "https://www.ensembl.org/id/ENSP00000442912.1" } ] } } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [], "publication": [], "pathway": [ { "id": "hsa:440345", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:440345", "resource": "KEGG Pathway" }, { "id": "hsa:613037", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:613037", "resource": "KEGG Pathway" } ], "orthologs": [], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 1, "go_terms": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "A6NJU9", "url": "https://www.uniprot.org/uniprot/A6NJU9" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [], "snv_sites": [], "glycation_sites": [], "phosphorylation_sites": [], "sequon_annotation_sites": [] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }