{ "uniprot_canonical_ac": "O43246-1", "uniprot_ac": "O43246", "uniprot_id": "CTR4_HUMAN", "mass": { "chemical_mass": 68268.0, "monoisotopic_mass": 68268.0 }, "refseq": { "ac": "NP_004164", "name": "cationic amino acid transporter 4", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004164" }, "gene_names": [ { "name": "SLC7A4", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O43246", "id": "O43246" }, { "name": "CAT-4; CAT4; HCAT3; VH", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004164", "id": "NP_004164" }, { "name": "SLC7A4", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004164", "id": "NP_004164" } ], "protein_names": [ { "name": "Cationic amino acid transporter 4", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O43246" }, { "name": "CAT-4", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43246" }, { "name": "CAT4", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43246" }, { "name": "Solute carrier family 7 member 4", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43246" }, { "name": "cationic amino acid transporter 4", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004164", "id": "NP_004164" }, { "name": "solute carrier family 7 (cationic amino acid transporter, y+ system), member 4; Ig heavy chain variable region; VH 3 family; solute carrier family 7 (orphan transporter), member 4", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004164", "id": "NP_004164" } ], "function": [ { "annotation": "Analysis of the genomic organization", "evidence": [ { "database": "RefSeq", "id": "NP_004164", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004164" }, { "database": "PubMed", "id": "11665818", "url": "https://glygen.org/publication/PubMed/11665818" } ] }, { "annotation": "Clinical trial of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)", "evidence": [ { "database": "RefSeq", "id": "NP_004164", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004164" }, { "database": "PubMed", "id": "20584552", "url": "https://glygen.org/publication/PubMed/20584552" } ] }, { "annotation": "Involved in the transport of the cationic amino acids (arginine, lysine and ornithine).", "evidence": [ { "database": "UniProtKB", "id": "O43246", "url": "https://www.uniprot.org/uniprot/O43246#function" } ] }, { "annotation": "Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)", "evidence": [ { "database": "RefSeq", "id": "NP_004164", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004164" }, { "database": "PubMed", "id": "20452607", "url": "https://glygen.org/publication/PubMed/20452607" } ] }, { "annotation": "Observational study of gene-disease association, gene-gene interaction, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)", "evidence": [ { "database": "RefSeq", "id": "NP_004164", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004164" }, { "database": "PubMed", "id": "20685009", "url": "https://glygen.org/publication/PubMed/20685009" } ] }, { "annotation": "These results suggest a heterogeneous immunophenotype and genotype for c-myc/Ig DLBCL, with CD10(-)/BCL6(+)/MUM1(-) cases the most frequent.", "evidence": [ { "database": "RefSeq", "id": "NP_004164", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004164" }, { "database": "PubMed", "id": "18460403", "url": "https://glygen.org/publication/PubMed/18460403" } ] }, { "annotation": "ZAP-70 reactivity using a T-cell marker as a control allows to identify the majority of patients with an unmutated Ig VH genotype.", "evidence": [ { "database": "RefSeq", "id": "NP_004164", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004164" }, { "database": "PubMed", "id": "17051526", "url": "https://glygen.org/publication/PubMed/17051526" } ] } ], 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prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "No", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O43246", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43246" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O43246", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43246" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary 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"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": "down", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O43246", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43246" } ], "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": "No", "trend": "up", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "O43246", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43246" } ], "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": "No", "trend": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "O43246", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43246" } ], "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": "O43246", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43246" } ], "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": "No", "trend": "down", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "O43246", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43246" } ], "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": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "O43246", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43246" } ], "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": "O43246", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43246" } ], "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": 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"categories": [ "Genome Annotation" ] }, { "id": "11062", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=11062", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "O43246", "url": "https://www.ebi.ac.uk/intact/interactors/id:O43246*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR002293", "url": "https://www.ebi.ac.uk/interpro/entry/IPR002293", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR029485", "url": "https://www.ebi.ac.uk/interpro/entry/IPR029485", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:6545", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:6545", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "603752", "url": "http://www.omim.org/entry/603752", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O43246", "url": "https://www.nextprot.org/entry/NX_O43246", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "ANWSQKE", "url": "https://omabrowser.org/oma/group/ANWSQKE/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "1421713at2759", "url": "http://www.orthodb.org/?query=1421713at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR43243", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR43243", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR43243:SF89", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR43243:SF89", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF13520", "url": "http://pfam.xfam.org/family/PF13520", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF13906", "url": "http://pfam.xfam.org/family/PF13906", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O43246", "url": "https://pharos.nih.gov/targets/O43246", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O43246", "url": "http://purl.obolibrary.org/obo/PR_O43246", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_004164", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004164", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "C9JM63", "url": "https://www.uniprot.org/uniprot/C9JM63", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JM63-1", "url": "https://www.uniprot.org/uniprot/C9JM63-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43246", "url": "https://www.uniprot.org/uniprot/O43246", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43246-1", "url": "https://www.uniprot.org/uniprot/O43246-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MARGLPTIASLARLCQKLNRLKPLEDSTMETSLRRCLSTLDLTLLGVGGMVGSGLYVLTGAVAKEVAGPAVLLSFGVAAVASLLAALCYAEFGARVPRTGSAYLFTYVSMGELWAFLIGWNVLLEYIIGGAAVARAWSGYLDSMFSHSIRNFTETHVGSWQVPLLGHYPDFLAAGIILLASAFVSCGARVSSWLNHTFSAISLLVILFIVILGFILAQPHNWSADEGGFAPFGFSGVMAGTASCFYAFVGFDVIAASSEEAQNPRRSVPLAIAISLAIAAGAYILVSTVLTLMVPWHSLDPDSALADAFYQRGYRWAGFIVAAGSICAMNTVLLSLLFSLPRIVYAMAADGLFFQVFAHVHPRTQVPVAGTLAFGLLTAFLALLLDLESLVQFLSLGTLLAYTFVATSIIVLRFQKSSPPSSPGPASPGPLTKQQSSFSDHLQLVGTVHASVPEPGELKPALRPYLGFLDGYSPGAVVTWALGVMLASAITIGCVLVFGNSTLHLPHWGYILLLLLTSVMFLLSLLVLGAHQQQYREDLFQIPMVPLIPALSIVLNICLMLKLSYLTWVRFSIWLLMGLAVYFGYGIRHSKENQRELPGLNSTHYVVFPRGSLEETVQAMQPPSQAPAQDPGHME", "length": 635, "header": "sp|O43246-1|CTR4_HUMAN Isoform 1 of Cationic amino acid transporter 4 OS=Homo sapiens OX=9606 GN=SLC7A4 PE=2 SV=3 CANONICAL=O43246-1" }, "isoforms": [ { "isoform_ac": "C9JM63-1", "url": "", "sequence": { "sequence": "MARGLPTIASLARLCQKLNRLKPLEDSTMETSLRRCLSTLDLTLLGVGGMVGSGLYVLTGAVAKEVAGPAVLLSFGVAAVA", "length": 81, "header": "tr|C9JM63-1|C9JM63_HUMAN Computationally mapped isoform of Solute carrier family 7 member 4 OS=Homo sapiens OX=9606 GN=SLC7A4 PE=4 SV=8 CANONICAL=O43246-1" }, "locus": { "chromosome": "22", "start_pos": 21031812, "end_pos": 21031570, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000426145.1", "url": "https://www.ensembl.org/id/ENST00000426145.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000408727.1", "url": "https://www.ensembl.org/id/ENSP00000408727.1" } ] } }, { "isoform_ac": "O43246-1", "url": "", "sequence": { "sequence": "MARGLPTIASLARLCQKLNRLKPLEDSTMETSLRRCLSTLDLTLLGVGGMVGSGLYVLTGAVAKEVAGPAVLLSFGVAAVASLLAALCYAEFGARVPRTGSAYLFTYVSMGELWAFLIGWNVLLEYIIGGAAVARAWSGYLDSMFSHSIRNFTETHVGSWQVPLLGHYPDFLAAGIILLASAFVSCGARVSSWLNHTFSAISLLVILFIVILGFILAQPHNWSADEGGFAPFGFSGVMAGTASCFYAFVGFDVIAASSEEAQNPRRSVPLAIAISLAIAAGAYILVSTVLTLMVPWHSLDPDSALADAFYQRGYRWAGFIVAAGSICAMNTVLLSLLFSLPRIVYAMAADGLFFQVFAHVHPRTQVPVAGTLAFGLLTAFLALLLDLESLVQFLSLGTLLAYTFVATSIIVLRFQKSSPPSSPGPASPGPLTKQQSSFSDHLQLVGTVHASVPEPGELKPALRPYLGFLDGYSPGAVVTWALGVMLASAITIGCVLVFGNSTLHLPHWGYILLLLLTSVMFLLSLLVLGAHQQQYREDLFQIPMVPLIPALSIVLNICLMLKLSYLTWVRFSIWLLMGLAVYFGYGIRHSKENQRELPGLNSTHYVVFPRGSLEETVQAMQPPSQAPAQDPGHME", "length": 635, "header": "sp|O43246-1|CTR4_HUMAN Isoform 1 of Cationic amino acid transporter 4 OS=Homo sapiens OX=9606 GN=SLC7A4 PE=2 SV=3 CANONICAL=O43246-1" }, "locus": { "chromosome": "22", "start_pos": 21031812, "end_pos": 21029058, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000403586.5", "url": "https://www.ensembl.org/id/ENST00000403586.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000384278.1", "url": "https://www.ensembl.org/id/ENSP00000384278.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 151, "start_aa": "Asn", "end_pos": 151, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn151", "evidence": [ { "id": "O43246", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O43246#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 195, "start_aa": "Asn", "end_pos": 195, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn195", "evidence": [ { "id": "O43246", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O43246#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 221, "start_aa": "Asn", "end_pos": 221, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn221", "evidence": [ { "id": "O43246", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O43246#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 500, "start_aa": "Asn", "end_pos": 500, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn500", "evidence": [ { "id": "O43246", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O43246#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 601, "start_aa": "Asn", "end_pos": 601, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn601", "evidence": [ { "id": "O43246", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O43246#ptm_processing" } ] } ], "phosphorylation": [ { "start_pos": 422, "end_pos": 422, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O43246", "url": "https://www.uniprot.org/uniprot/O43246" } ], "site_lbl": "Ser422" }, { "start_pos": 427, "end_pos": 427, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O43246", "url": "https://www.uniprot.org/uniprot/O43246" } ], "site_lbl": "Ser427" }, { "start_pos": 567, "end_pos": 567, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O43246", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43246" }, { "database": "PubMed", "id": "35494241", "url": "" } ], "site_lbl": "Thr567" }, { "start_pos": 572, "end_pos": 572, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O43246", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43246" }, { "database": "PubMed", "id": "35494241", "url": "" } ], "site_lbl": "Ser572" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_predicted" ], "publication": [ { "title": "Analysis of the genomic organization of the human cationic amino acid transporters CAT-1, CAT-2 and CAT-4.", "journal": "Amino acids", "date": "2001", "authors": "Hammermann R, Brunn G, Racke K", "evidence": [ { "database": "RefSeq", "id": "NP_004164", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004164" } ], "reference": [ { "type": "PubMed", "id": "11665818", "url": "https://glygen.org/publication/PubMed/11665818" } ] }, { "title": "Comparative analysis of ZAP-70 expression and Ig VH mutational status in B-cell chronic lymphocytic leukemia.", "journal": "Cytometry. Part B, Clinical cytometry", "date": "2007", "authors": "Munoz L, Lasa A, Carricondo MT, Hernandez C, Ubeda J, Nomdedeu JF", "evidence": [ { "database": "RefSeq", "id": "NP_004164", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004164" } ], "reference": [ { "type": "PubMed", "id": "17051526", "url": "https://glygen.org/publication/PubMed/17051526" } ] }, { "title": "Characterization of de novo diffuse large B-cell lymphoma with a translocation of c-myc and immunoglobulin genes.", "journal": "Leukemia research", "date": "2008", "authors": "Kikuchi A, Nakamura N, Kuze T, Sasaki Y, Abe M, Ohno H, Akasaka T, Nakamura S, Ohshima K, Ando K", "evidence": [ { "database": "RefSeq", "id": "NP_004164", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004164" } ], "reference": [ { "type": "PubMed", "id": "18460403", "url": "https://glygen.org/publication/PubMed/18460403" } ] }, { "title": "Influence of serotonin transporter gene polymorphisms on clozapine response in Brazilian schizophrenics.", "journal": "Journal of psychiatric research", "date": "2010", "authors": "Kohlrausch FB, Salatino-Oliveira A, Gama CS, Lobato MI, Belmonte-de-Abreu P, Hutz MH", "evidence": [ { "database": "RefSeq", "id": "NP_004164", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004164" } ], "reference": [ { "type": "PubMed", "id": "20452607", "url": "https://glygen.org/publication/PubMed/20452607" } ] }, { "title": "The role of clinical variables, neuropsychological performance and SLC6A4 and COMT gene polymorphisms on the prediction of early response to fluoxetine in major depressive disorder.", "journal": "Journal of affective disorders", "date": "2010", "authors": "Gudayol-Ferre E, Herrera-Guzman I, Camarena B, Cortes-Penagos C, Herrera-Abarca JE, Martinez-Medina P, Cruz D, Hernandez S, Genis A, Carrillo-Guerrero MY, Aviles Reyes R, Guardia-Olmos J", "evidence": [ { "database": "RefSeq", "id": "NP_004164", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004164" } ], "reference": [ { "type": "PubMed", "id": "20584552", "url": "https://glygen.org/publication/PubMed/20584552" } ] }, { "title": "Association of serotonin and dopamine gene pathways with behavioral subphenotypes in dementia.", "journal": "Neurobiology of aging", "date": "2012", "authors": "Proitsi P, Lupton MK, Reeves SJ, Hamilton G, Archer N, Martin BM, Iyegbe C, Hollingworth P, Lawlor B, Gill M, Brayne C, Rubinsztein DC, Owen MJ, Williams J, Lovestone S, Powell JF", "evidence": [ { "database": "RefSeq", "id": "NP_004164", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004164" } ], "reference": [ { "type": "PubMed", "id": "20685009", "url": "https://glygen.org/publication/PubMed/20685009" } ] }, { "title": "The gene encoding a cationic amino acid transporter (SLC7A4) maps to the region deleted in the velocardiofacial syndrome.", "journal": "Genomics", "date": "1998", "authors": "Sperandeo M P, Borsani G, Incerti B, Zollo M, Rossi E, Zuffardi O, Castaldo P, Taglialatela M, Andria G, Sebastio G", "evidence": [ { "database": "UniProtKB", "id": "O43246", "url": "https://www.uniprot.org/uniprot/O43246" } ], "reference": [ { "type": "PubMed", "id": "9598310", "url": "https://glygen.org/publication/PubMed/9598310" } ] } ], "pathway": [ { "id": "hsa:6545", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:6545", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "B5DFJ0-1", "protein_name": "Solute carrier family 7, member 4", "gene_name": "Slc7a4", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MARGLPSTARLARFCQKLNRLKPLEESSTETSLRRCLSTLDLTLLGVGGMVGSGLYVLTGTVAKDMAGPAVLLSFLVAAVASLLAALCYAEFGARVPRTGSAYLFTYVSMGEIWAFLIGWNVLLEYLIGGAAVARAWSGYLDAIFNHSIRNFTESHMGVWQMPFLAHYPDFLAAGILLVASAFVSCGARVSSWLNHTFSAISLIVILFIIVLGFILARPHNWSAEEGGFAPFGFSGILAGTATCFYAFVGFDVIAASSEEAKNPRWAVPMAIAISLGLAAGAYILVSTVLTLMVPWHSLDPDSALADAFYRRGYGWAGFIVAVGSICAMNTVLLSNLFSLPRIVYAMAADGLFFQVFARVHPRTQVPVVGILVFGVLMALLALLMDLEALVQFLSIGTLLAYTFVATSIIVLRFQKASPPSSPCPASPGPTVKKYDSFSDHIQLVDAVQASMSEPGQLRPALKPFLGFLDGLSPGTAVTWALGILIASAISLACVLVFGNSALHLPRWGYVLLLVVSGAVFLSSLLVLGAHQQQKKQDTFQIPLVPLTPALSILLNLCLMLKLSYLTWLRFIFWLLVGLVVYFGYGIWHSKENQREPLELTTAHYVVFPSGSLEETVQAVQPDSQTPVQGPGCTE", "length": 635 }, "evidence": [ { "id": "45918399", "url": "http://www.informatics.jax.org/homology/45918399", "database": "MGI" }, { "id": "O43246", "url": "https://omabrowser.org/oma/group/O43246/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q8BLQ7-1", "protein_name": "Cationic amino acid transporter 4", "gene_name": "Slc7a4", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MARGLPSTACLARFCQKLNRLKPLEESSMETSLRRCLSTLDLTLLGVGGMVGSGLYVLTGTVAKDMAGPAVLLSFLVAAVASLLAALCYAEFGARVPRTGSAYLFTYVSMGEIWAFLIGWNVLLEYLIGGAAVARAWSGYLDAIFNHSIRNFTESHLGVWQVPFLAHYPDFLAAGILLVASAFVSCGARVSSWLNHTFSAISLIVILFIIVLGFILARPHNWSAEEGGFAPFGFSGILAGTATCFYAFVGFDVIAASSEEAKNPRWAVPMAIAISLSLAAGAYILVSTVLTLMVPWHSLDPDSALADAFYRRGYSWAGFIVAVGSICAMNTVLLSNLFSLPRIVYAMAADGLFFQVFARVHPRTQVPVVGILVFGVLMALLALLLDLEALVQFLSIGTLLAYTFVATSIIVLRFQKASPPSSPCLASPGPTAKKYDSFSDHIQLVGAEQTSMSEPGQLRPALKPFLGFLDGCSPGTAVAWALGILVASAISLACVLVFGNSDLHLPQWGYVLLLVISGAVFLSSLLVLGAHQQQKKQDTFQIPLVPLTPALSILLNTCLMLKLSYLTWLRFIFWLLVGLVVYFGYGIWHSKENQREPLELTTAHYVVFPSGSLEETVQAVQPSSQSPVRESGCTE", "length": 635 }, "evidence": [ { "id": "45918399", "url": "http://www.informatics.jax.org/homology/45918399", "database": "MGI" }, { "id": "O43246", "url": "https://omabrowser.org/oma/group/O43246/", "database": "OMA" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "Q9VPG2-1", "protein_name": "FI04531p", "gene_name": "dCat-4", "tax_id": 7227, "organism": "Drosophila melanogaster", "sequence": { "sequence": "MPSSRRAILRHILSGICTKMNRTKSVPTDVMETPLNRCLNTFDIALLGIGHMVGAGIYVLTGTVAKEMAGPGIILSFILAGFISMLAALCYAEFGTRVPKAGSAYVYTYISMGEFWAFVIGWNILLEHMLGAASVARAWSGYVDSMLGGWIGNTTLELTGGIHEPGLAQYPDVLAFLVCIVYAAALAGGVKATAVFNSLLTLVNIAVMVLVISVGFWYADGKNWSEAEGGFLPYGVGGVIAGAATCFYAFVGFDSIATSGEEAKNPSVSIPVATVISLFVVTVGYILVSAALTLMIPISEINPAASLPEAFGQLNLSWAKYLISIGALCGMTTTLLGSLFALPRCMYAMASDGLLFSCFGKINPTTQVPLLNLVVSGVMSACLALVFDLAKLVEFMSIGTLLAYTIVSASVIILRYRPMERIHTTIRVPAVAGSPDDDDDDDEDVASQSSMDTSSPTSEMIEEVLAGRLKAQFRCLEPLLGRFEPGSVVSVAVMLFIFLSFAICVELKVSWTQLYTGTWWALIIYGFIIFAAGTCVAVIAVHNQNTRGLIFKVPLVPFVPALGIFCNILLMVHLDAVTWVRFFVWVCIGMVVYFLYGIRNSKEGEVCSSYSILMTTSEAGKVPWGSFKATSGGKKSSKHSIFERFTGRSKPEDKKSIVEESENETSGYS", "length": 669 }, "evidence": [ { "id": "O43246", "url": "https://omabrowser.org/oma/group/O43246/", "database": "OMA" } ], "common_name": "Fruit fly" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 2, "go_terms": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "O43246", "url": "https://www.uniprot.org/uniprot/O43246" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "O43246", "url": "https://www.uniprot.org/uniprot/O43246" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 1, "go_terms": [ { "name": "amino acid transport", "id": "GO:0006865", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006865", "evidence": [ { "database": "UniProtKB", "id": "O43246", "url": "https://www.uniprot.org/uniprot/O43246" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 2, "go_terms": [ { "name": "amino acid transmembrane transporter activity", "id": "GO:0015171", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015171", "evidence": [ { "database": "UniProtKB", "id": "O43246", "url": "https://www.uniprot.org/uniprot/O43246" } ], "pmid": "" }, { "name": "basic amino acid transmembrane transporter activity", "id": "GO:0015174", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015174", "evidence": [ { "database": "UniProtKB", "id": "O43246", "url": "https://www.uniprot.org/uniprot/O43246" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 151, "end_pos": 153, "annotation": "n_glycosylation_sequon" }, { "start_pos": 195, "end_pos": 197, "annotation": "n_glycosylation_sequon" }, { "start_pos": 221, "end_pos": 223, "annotation": "n_glycosylation_sequon" }, { "start_pos": 500, "end_pos": 502, "annotation": "n_glycosylation_sequon" }, { "start_pos": 601, "end_pos": 603, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [ 151, 195, 221, 500, 601 ], "o_linked_sites": [], "snv_sites": [ 151, 195, 197, 223, 241, 502 ], "glycation_sites": [], "phosphorylation_sites": [ 422, 427, 567, 572 ], "sequon_annotation_sites": [ { "start_pos": 151, "end_pos": 153 }, { "start_pos": 195, "end_pos": 197 }, { "start_pos": 221, "end_pos": 223 }, { "start_pos": 500, "end_pos": 502 }, { "start_pos": 601, "end_pos": 603 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 5 }, { "field": "total_sites", "count": 5 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 5 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", 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