{ "uniprot_canonical_ac": "O43861-1", "uniprot_ac": "O43861", "uniprot_id": "ATP9B_HUMAN", "mass": { "chemical_mass": 129304.0, "monoisotopic_mass": 129304.0 }, "refseq": { "ac": "NP_001293014", "name": "probable phospholipid-transporting ATPase IIB isoform 2", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001293014" }, "gene_names": [ { "name": "ATP9B", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O43861", "id": "O43861" }, { "name": "ATP9B", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001293014", "id": "NP_001293014" }, { "name": "ATPASEP; ATPIIB; hMMR1; HUSSY-20; NEO1L", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001293014", "id": "NP_001293014" }, { "name": "ATPIIB", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O43861", "id": "O43861" }, { "name": "HUSSY-20", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O43861", "id": "O43861" }, { "name": "NEO1L", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O43861", "id": "O43861" } ], "protein_names": [ { "name": "Probable phospholipid-transporting ATPase IIB", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O43861" }, { "name": "7.6.2.1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43861" }, { "name": "ATPase class II type 9B", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43861" }, { "name": "probable phospholipid-transporting ATPase IIB isoform 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001293014", "id": "NP_001293014" }, { "name": "probable phospholipid-transporting ATPase IIB; ATPase type IV, phospholipid transporting (P-type); macrophage MHC receptor 1; ATPase, class II, type 9B", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001293014", "id": "NP_001293014" } ], "function": [ { "annotation": "These results revealed that human human macrophage MHC receptor 1 on monocytes is a novel receptor specific for HLA-B44.", "evidence": [ { "database": "RefSeq", "id": "NP_001293014", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001293014" }, { "database": "PubMed", "id": "22525042", "url": "https://glygen.org/publication/PubMed/22525042" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "O43861", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O43861" } ], "glycoeffect": [], "start_pos": 1135, "end_pos": 1135, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "18", "chr_pos": "79377342", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R1135", "disease": [ { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervix cancer", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervix uteri cancer", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] }, { "disease_id": "DOID: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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "O43861", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O43861" } ], "glycoeffect": [], "start_pos": 992, "end_pos": 992, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "V", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "18", "chr_pos": "79359425", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A992", "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": "" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] }, { "disease_id": "DOID: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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "77.22", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000166377", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000166377" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "73.38", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000166377", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000166377" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "85.43", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000166377", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000166377" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "56.22", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000166377", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000166377" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "87.85", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000166377", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000166377" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "83.38", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000166377", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000166377" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "66.66", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000166377", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000166377" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "82.94", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000166377", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000166377" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "86.94", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000166377", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000166377" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "65.92", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000166377", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000166377" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "87.59", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000166377", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000166377" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "88.32", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000166377", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000166377" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "85.41", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000166377", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000166377" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O43861", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43861" } ], "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": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O43861", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43861" } ], "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": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O43861", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43861" } ], "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": "down", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O43861", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43861" } ], "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": "down", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "O43861", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43861" } ], "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": "down", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "O43861", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43861" } ], "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": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O43861", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43861" } ], "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": "O43861", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43861" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "O43861", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43861" } ], "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": "No", "trend": "down", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "O43861", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43861" } ], "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "O43861", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43861" } ], "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": "down", "name": "Colorectal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:9256", "evidence": [ { "database": "BioXpress", "id": "O43861", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43861" } ], "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": "O43861", "url": "https://www.uniprot.org/uniprot/O43861" } ], "common_name": "Human" } ], "gene": [ { "name": "ATP9B", "url": "https://www.uniprot.org/uniprot/O43861", "locus": { "chromosome": "HSCHR18_2_CTG2_1", "start_pos": 140079, "end_pos": 139952, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000274273", "url": "https://www.ensembl.org/id/ENSG00000274273" } ] } } ], "crossref": [ { "id": "ENSG00000166377", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000166377", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "O43861", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O43861", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "cd07541", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd07541", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "ATP9B", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP9B", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "374868", "url": "https://www.ncbi.nlm.nih.gov/gene/374868", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "13541", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=13541", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "IPR001757", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001757", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR006539", "url": "https://www.ebi.ac.uk/interpro/entry/IPR006539", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR008250", "url": "https://www.ebi.ac.uk/interpro/entry/IPR008250", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR018303", "url": "https://www.ebi.ac.uk/interpro/entry/IPR018303", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR023214", "url": "https://www.ebi.ac.uk/interpro/entry/IPR023214", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR023298", "url": "https://www.ebi.ac.uk/interpro/entry/IPR023298", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR023299", "url": "https://www.ebi.ac.uk/interpro/entry/IPR023299", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR032630", "url": "https://www.ebi.ac.uk/interpro/entry/IPR032630", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR032631", "url": "https://www.ebi.ac.uk/interpro/entry/IPR032631", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036412", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036412", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR044492", "url": "https://www.ebi.ac.uk/interpro/entry/IPR044492", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:374868", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:374868", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "614446", "url": "http://www.omim.org/entry/614446", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O43861", "url": "https://www.nextprot.org/entry/NX_O43861", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "IAITTWH", "url": "https://omabrowser.org/oma/group/IAITTWH/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "275833at2759", "url": "http://www.orthodb.org/?query=275833at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR24092", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24092", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR24092:SF50", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24092:SF50", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF00122", "url": "http://pfam.xfam.org/family/PF00122", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF00702", "url": "http://pfam.xfam.org/family/PF00702", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF13246", "url": "http://pfam.xfam.org/family/PF13246", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF16209", "url": "http://pfam.xfam.org/family/PF16209", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF16212", "url": "http://pfam.xfam.org/family/PF16212", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O43861", "url": "https://pharos.nih.gov/targets/O43861", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O43861", "url": "http://purl.obolibrary.org/obo/PR_O43861", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-936837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-936837", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001293014", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001293014", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A0A0G2JNU9", "url": "https://www.uniprot.org/uniprot/A0A0G2JNU9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0G2JNU9-1", "url": "https://www.uniprot.org/uniprot/A0A0G2JNU9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0J9YYD2", "url": "https://www.uniprot.org/uniprot/A0A0J9YYD2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0J9YYD2-1", "url": "https://www.uniprot.org/uniprot/A0A0J9YYD2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "B4DJ94", "url": "https://www.uniprot.org/uniprot/B4DJ94", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "B4DJ94-1", "url": "https://www.uniprot.org/uniprot/B4DJ94-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7EII3", "url": "https://www.uniprot.org/uniprot/K7EII3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7EII3-1", "url": "https://www.uniprot.org/uniprot/K7EII3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7EJG1", "url": "https://www.uniprot.org/uniprot/K7EJG1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7EJG1-1", "url": "https://www.uniprot.org/uniprot/K7EJG1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7EJP9", "url": "https://www.uniprot.org/uniprot/K7EJP9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7EJP9-1", "url": "https://www.uniprot.org/uniprot/K7EJP9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7EJS3", "url": "https://www.uniprot.org/uniprot/K7EJS3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7EJS3-1", "url": "https://www.uniprot.org/uniprot/K7EJS3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7EL57", "url": "https://www.uniprot.org/uniprot/K7EL57", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7EL57-1", "url": "https://www.uniprot.org/uniprot/K7EL57-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7EPH4", "url": "https://www.uniprot.org/uniprot/K7EPH4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7EPH4-1", "url": "https://www.uniprot.org/uniprot/K7EPH4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7EQ39", "url": "https://www.uniprot.org/uniprot/K7EQ39", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7EQ39-1", "url": "https://www.uniprot.org/uniprot/K7EQ39-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7EQQ5", "url": "https://www.uniprot.org/uniprot/K7EQQ5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7EQQ5-1", "url": "https://www.uniprot.org/uniprot/K7EQQ5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7ERE0", "url": "https://www.uniprot.org/uniprot/K7ERE0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7ERE0-1", "url": "https://www.uniprot.org/uniprot/K7ERE0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7ES39", "url": "https://www.uniprot.org/uniprot/K7ES39", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7ES39-1", "url": "https://www.uniprot.org/uniprot/K7ES39-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43861", "url": "https://www.uniprot.org/uniprot/O43861", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43861-1", "url": "https://www.uniprot.org/uniprot/O43861-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43861-2", "url": "https://www.uniprot.org/uniprot/O43861-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MADQIPLYPVRSAAAAAANRKRAAYYSAAGPRPGADRHSRYQLEDESAHLDEMPLMMSEEGFENEESDYHTLPRARIMQRKRGLEWFVCDGWKFLCTSCCGWLINICRRKKELKARTVWLGCPEKCEEKHPRNSIKNQKYNVFTFIPGVLYEQFKFFLNLYFLVISCSQFVPALKIGYLYTYWAPLGFVLAVTMTREAIDEFRRFQRDKEVNSQLYSKLTVRGKVQVKSSDIQVGDLIIVEKNQRIPSDMVFLRTSEKAGSCFIRTDQLDGETDWKLKVAVSCTQQLPALGDLFSISAYVYAQKPQMDIHSFEGTFTREDSDPPIHESLSIENTLWASTIVASGTVIGVVIYTGKETRSVMNTSNPKNKVGLLDLELNRLTKALFLALVALSIVMVTLQGFVGPWYRNLFRFLLLFSYIIPISLRVNLDMGKAVYGWMMMKDENIPGTVVRTSTIPEELGRLVYLLTDKTGTLTQNEMIFKRLHLGTVSYGADTMDEIQSHVRDSYSQMQSQAGGNNTGSTPLRKAQSSAPKVRKSVSSRIHEAVKAIVLCHNVTPVYESRAGVTEETEFAEADQDFSDENRTYQASSPDEVALVQWTESVGLTLVSRDLTSMQLKTPSGQVLSFCILQLFPFTSESKRMGVIVRDESTAEITFYMKGADVAMSPIVQYNDWLEEECGNMAREGLRTLVVAKKALTEEQYQDFESRYTQAKLSMHDRSLKVAAVVESLEREMELLCLTGVEDQLQADVRPTLEMLRNAGIKIWMLTGDKLETATCIAKSSHLVSRTQDIHIFRQVTSRGEAHLELNAFRRKHDCALVISGDSLEVCLKYYEHEFVELACQCPAVVCCRCSPTQKARIVTLLQQHTGRRTCAIGDGGNDVSMIQAADCGIGIEGKEGKQASLAADFSITQFRHIGRLLMVHGRNSYKRSAALGQFVMHRGLIISTMQAVFSSVFYFASVPLYQGFLMVGYATIYTMFPVFSLVLDQDVKPEMAMLYPELYKDLTKGRSLSFKTFLIWVLISIYQGGILMYGALVLFESEFVHVVAISFTALILTELLMVALTVRTWHWLMVVAEFLSLGCYVSSLAFLNEYFGIGRVSFGAFLDVAFITTVTFLWKVSAITVVSCLPLYVLKYLRRKLSPPSYCKLAS", "length": 1147, "header": "sp|O43861-1|ATP9B_HUMAN Isoform 1 of Probable phospholipid-transporting ATPase IIB OS=Homo sapiens OX=9606 GN=ATP9B PE=2 SV=4 CANONICAL=O43861-1" }, "isoforms": [ { "isoform_ac": "A0A0G2JNU9-1", "url": "", "sequence": { "sequence": "MADQIPLYPVRSAAAAAANRKRAAYYSAAGPRPGADRHS", "length": 39, "header": "tr|A0A0G2JNU9-1|ATP9B_HUMAN Computationally mapped isoform of Probable phospholipid-transporting ATPase IIB OS=Homo sapiens OX=9606 GN=ATP9B PE=2 SV=1 CANONICAL=O43861-1" }, "locus": { "chromosome": "HSCHR18_ALT2_CTG2_1", "start_pos": 138240, "end_pos": 138124, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000633480.1", "url": "https://www.ensembl.org/id/ENST00000633480.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000488805.1", "url": "https://www.ensembl.org/id/ENSP00000488805.1" } ] } }, { "isoform_ac": "A0A0J9YYD2-1", "url": "", "sequence": { "sequence": "MADQIPLYPVRSAAAAAANRKRAAYYSAAGPRPGADRHSRNEHPAPLCMYPTMTARLGWMSPLLTWSALTPPGQWGECLPTAGACGSPGFTHSLLFNV", "length": 98, "header": "tr|A0A0J9YYD2-1|ATP9B_HUMAN Computationally mapped isoform of Probable phospholipid-transporting ATPase IIB OS=Homo sapiens OX=9606 GN=ATP9B PE=2 SV=1 CANONICAL=O43861-1" }, "locus": { "chromosome": "HSCHR18_ALT2_CTG2_1", "start_pos": 146869, "end_pos": 138124, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000633932.1", "url": "https://www.ensembl.org/id/ENST00000633932.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000488793.1", "url": "https://www.ensembl.org/id/ENSP00000488793.1" } ] } }, { "isoform_ac": "B4DJ94-1", "url": "", "sequence": { "sequence": "MADQIPLYPVRSAAAAAANRKRAAYYSAAGPRPGADRHSRYQLEDESAHLDEMPLMMSEEGFENEESDYHTLPRARIMQRKRGLEWFVCDGWKFLCTSCCGWLINICRRKKELKARTVWLGCPEKCEEKHPRNSIKNQKYNVFTFIPGVLYEQFKFFLNLYFLVISCSQFVPALKIGYLYTYWAPLMT", "length": 188, "header": "tr|B4DJ94-1|ATP9B_HUMAN Computationally mapped isoform of Probable phospholipid-transporting ATPase IIB OS=Homo sapiens OX=9606 GN=ATP9B PE=2 SV=1 CANONICAL=O43861-1" }, "locus": { "chromosome": "18", "start_pos": 79114999, "end_pos": 79069411, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000586722.5", "url": "https://www.ensembl.org/id/ENST00000586722.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000466992.1", "url": "https://www.ensembl.org/id/ENSP00000466992.1" } ] } }, { "isoform_ac": "K7EII3-1", "url": "", "sequence": { "sequence": "CHNVTPVYESRAGVTEETEFAEADQDFSDENRTYQASSPDEVALVQWTESVGLTLVSRDLTSMQLKTPSGQVLSFCILQLFPFTSESKRMGVIVRDESTAEITFYMKGADVAMSPIVQYNDWLEEERSLFQFLNRRREETQLLDA", "length": 145, "header": "tr|K7EII3-1|ATP9B_HUMAN Computationally mapped isoform of Probable phospholipid-transporting ATPase IIB OS=Homo sapiens OX=9606 GN=ATP9B PE=2 SV=1 CANONICAL=O43861-1" }, "locus": { "chromosome": "18", "start_pos": 79332884, "end_pos": 79307112, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000589326.5", "url": "https://www.ensembl.org/id/ENST00000589326.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000464761.1", "url": "https://www.ensembl.org/id/ENSP00000464761.1" } ] } }, { "isoform_ac": "K7EJG1-1", "url": "", "sequence": { "sequence": "MADQIPLYPVRSAAAAAANRKRAAYYSAAGPRPGADRHSRNEHPAPLCMYPTMTARLGWMSPLLTWSALTPPGQWGECLPTAGACGSPGFTHSLLFNVGT", "length": 100, "header": "tr|K7EJG1-1|ATP9B_HUMAN Computationally mapped isoform of Probable phospholipid-transporting ATPase IIB OS=Homo sapiens OX=9606 GN=ATP9B PE=2 SV=1 CANONICAL=O43861-1" }, "locus": { "chromosome": "18", "start_pos": 79096480, "end_pos": 79069411, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000588600.1", "url": "https://www.ensembl.org/id/ENST00000588600.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000465158.1", "url": "https://www.ensembl.org/id/ENSP00000465158.1" } ] } }, { "isoform_ac": "K7EJP9-1", "url": "", "sequence": { "sequence": "XIISTMQAVFSSVFYFASVPLYQGFLMVGYATIYTMFPVFSLVLDQDVKPEMAMLYPELYKDLTKSQQDGRSNRRQHERLTSGTSGHVWDPGSFFRIRVSGKGARNAGKILVLQNLPHLGFNKYLPRRHPHVWGPGALRV", "length": 140, "header": "tr|K7EJP9-1|ATP9B_HUMAN Computationally mapped isoform of Probable phospholipid-transporting ATPase IIB OS=Homo sapiens OX=9606 GN=ATP9B PE=2 SV=1 CANONICAL=O43861-1" }, "locus": { "chromosome": "18", "start_pos": 79373939, "end_pos": 79347907, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000588921.1", "url": "https://www.ensembl.org/id/ENST00000588921.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000465269.1", "url": "https://www.ensembl.org/id/ENSP00000465269.1" } ] } }, { "isoform_ac": "K7EJS3-1", "url": "", "sequence": { "sequence": "XNTLWASTIVASGWFVGP", "length": 18, "header": "tr|K7EJS3-1|K7EJS3_HUMAN Computationally mapped isoform of ATPase phospholipid transporting 9B (putative) OS=Homo sapiens OX=9606 GN=ATP9B PE=4 SV=1 CANONICAL=O43861-1" }, "locus": { "chromosome": "18", "start_pos": 79253398, "end_pos": 79206977, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000587878.1", "url": "https://www.ensembl.org/id/ENST00000587878.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000465300.1", "url": "https://www.ensembl.org/id/ENSP00000465300.1" } ] } }, { "isoform_ac": "K7EL57-1", "url": "", "sequence": { "sequence": "XCGNMAREGLRTLVVAKKALTEEQYQDFEVPQGGRGSREPGEGDGTAVPHRRGGPAAGRRAAHAGDAAQRRDQDMDANRR", "length": 80, "header": "tr|K7EL57-1|ATP9B_HUMAN Computationally mapped isoform of Probable phospholipid-transporting ATPase IIB OS=Homo sapiens OX=9606 GN=ATP9B PE=2 SV=1 CANONICAL=O43861-1" }, "locus": { "chromosome": "18", "start_pos": 79342288, "end_pos": 79336626, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000588895.1", "url": "https://www.ensembl.org/id/ENST00000588895.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000465928.1", "url": "https://www.ensembl.org/id/ENSP00000465928.1" } ] } }, { "isoform_ac": "K7EPH4-1", "url": "", "sequence": { "sequence": "MADQIPLYPVRSAAAAAANRKRAAYYSAAGPRPGADRHSRYQLEDESAHLDEMPLMMSEEGFENEESDYHTLPRARIMQRKRGLEWFVCDGWKFLCTSCCGWLINICRRKKELKARTVWLGCPEKCEEKHPRNSIKNQKYNVFTFIPGVLYEQFKFFLNLYFLVISCSQFVPALKIGYLYTYWAPLGFVLAVTMTREAIDEFRRFQRDKEVNSQLYSKLTVRGKVQVKSSDIQVGDLIIVEKNQRIPSDMVFLRTSEKAGPFFYQCLCLCSETTNGHSQFRRHIYQGRQ", "length": 289, "header": "tr|K7EPH4-1|ATP9B_HUMAN Computationally mapped isoform of Probable phospholipid-transporting ATPase IIB OS=Homo sapiens OX=9606 GN=ATP9B PE=2 SV=1 CANONICAL=O43861-1" }, "locus": { "chromosome": "18", "start_pos": 79206944, "end_pos": 79069411, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000586366.5", "url": "https://www.ensembl.org/id/ENST00000586366.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000467386.1", "url": "https://www.ensembl.org/id/ENSP00000467386.1" } ] } }, { "isoform_ac": "K7EQ39-1", "url": "", "sequence": { "sequence": "XLDQDVKPEMAMLYPELYKDLTKFAKVAQTAALCVVV", "length": 37, "header": "tr|K7EQ39-1|K7EQ39_HUMAN Computationally mapped isoform of ATPase phospholipid transporting 9B (putative) OS=Homo sapiens OX=9606 GN=ATP9B PE=4 SV=1 CANONICAL=O43861-1" }, "locus": { "chromosome": "18", "start_pos": 79361782, "end_pos": 79359396, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000587919.1", "url": "https://www.ensembl.org/id/ENST00000587919.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000467657.1", "url": "https://www.ensembl.org/id/ENSP00000467657.1" } ] } }, { "isoform_ac": "K7EQQ5-1", "url": "", "sequence": { "sequence": "LVISGDSLEVCLKYYEHEFVELACQCPAVVCCRCSPTQKARIVTLLQQHTGRRTCAIGDGGNDVSMIQAADCGIGIEGKEGKQASLAADFSITQFRHIGRLLMVHGRNSYKRSAALGQFVMHRGLIISTMQVCHHIHHVPSVLLSAGPGREARDGDALPGAVQGPHQGKILVLQNLPHLGFNKYLPRRHPHVWGPGALRV", "length": 200, "header": "tr|K7EQQ5-1|ATP9B_HUMAN Computationally mapped isoform of Probable phospholipid-transporting ATPase IIB OS=Homo sapiens OX=9606 GN=ATP9B PE=2 SV=1 CANONICAL=O43861-1" }, "locus": { "chromosome": "18", "start_pos": 79373937, "end_pos": 79344328, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000590477.5", "url": "https://www.ensembl.org/id/ENST00000590477.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000467935.1", "url": "https://www.ensembl.org/id/ENSP00000467935.1" } ] } }, { "isoform_ac": "K7ERE0-1", "url": "", "sequence": { "sequence": "MADQIPLYPVRSAAAAAANRKRAAYYSAAGPRPGADRHSSCCGWLINICRRKKELKARTVWLGCPEKCEEKHPRNSIKNQKYNVFTFIPGVLYEQFKFFLNLYFLVISCSQFVPALKIGYLYTYWAPLGFVLAVTMTREAIDEFRRFQRDKEVNSQLYSKLTVRGKVQVKSSDIQVGDLIIVEKNQRIPSDM", "length": 192, "header": "tr|K7ERE0-1|ATP9B_HUMAN Computationally mapped isoform of Probable phospholipid-transporting ATPase IIB OS=Homo sapiens OX=9606 GN=ATP9B PE=2 SV=8 CANONICAL=O43861-1" }, "locus": { "chromosome": "18", "start_pos": 79154527, "end_pos": 79069411, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000586672.5", "url": "https://www.ensembl.org/id/ENST00000586672.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000468218.1", "url": "https://www.ensembl.org/id/ENSP00000468218.1" } ] } }, { "isoform_ac": "K7ES39-1", "url": "", "sequence": { "sequence": "FSDENRTYQASSPDEVALVQWTESVGLTLVSRDLTSMQLKTPSGQVLSFCILQLFPFTSESKRMGVIVRDESTAEITFYMKGADVAMSPIVQYNDWLEEEETGRDTAVGCIKKGARPTPLLQPFLPSLQPPVQRQIQSTG", "length": 140, "header": "tr|K7ES39-1|K7ES39_HUMAN Computationally mapped isoform of ATPase phospholipid transporting 9B (putative) OS=Homo sapiens OX=9606 GN=ATP9B PE=1 SV=1 CANONICAL=O43861-1" }, "locus": { "chromosome": "18", "start_pos": 79332973, "end_pos": 79307190, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000589732.1", "url": "https://www.ensembl.org/id/ENST00000589732.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000468540.1", "url": "https://www.ensembl.org/id/ENSP00000468540.1" } ] } }, { "isoform_ac": "O43861-1", "url": "", "sequence": { "sequence": "MADQIPLYPVRSAAAAAANRKRAAYYSAAGPRPGADRHSRYQLEDESAHLDEMPLMMSEEGFENEESDYHTLPRARIMQRKRGLEWFVCDGWKFLCTSCCGWLINICRRKKELKARTVWLGCPEKCEEKHPRNSIKNQKYNVFTFIPGVLYEQFKFFLNLYFLVISCSQFVPALKIGYLYTYWAPLGFVLAVTMTREAIDEFRRFQRDKEVNSQLYSKLTVRGKVQVKSSDIQVGDLIIVEKNQRIPSDMVFLRTSEKAGSCFIRTDQLDGETDWKLKVAVSCTQQLPALGDLFSISAYVYAQKPQMDIHSFEGTFTREDSDPPIHESLSIENTLWASTIVASGTVIGVVIYTGKETRSVMNTSNPKNKVGLLDLELNRLTKALFLALVALSIVMVTLQGFVGPWYRNLFRFLLLFSYIIPISLRVNLDMGKAVYGWMMMKDENIPGTVVRTSTIPEELGRLVYLLTDKTGTLTQNEMIFKRLHLGTVSYGADTMDEIQSHVRDSYSQMQSQAGGNNTGSTPLRKAQSSAPKVRKSVSSRIHEAVKAIVLCHNVTPVYESRAGVTEETEFAEADQDFSDENRTYQASSPDEVALVQWTESVGLTLVSRDLTSMQLKTPSGQVLSFCILQLFPFTSESKRMGVIVRDESTAEITFYMKGADVAMSPIVQYNDWLEEECGNMAREGLRTLVVAKKALTEEQYQDFESRYTQAKLSMHDRSLKVAAVVESLEREMELLCLTGVEDQLQADVRPTLEMLRNAGIKIWMLTGDKLETATCIAKSSHLVSRTQDIHIFRQVTSRGEAHLELNAFRRKHDCALVISGDSLEVCLKYYEHEFVELACQCPAVVCCRCSPTQKARIVTLLQQHTGRRTCAIGDGGNDVSMIQAADCGIGIEGKEGKQASLAADFSITQFRHIGRLLMVHGRNSYKRSAALGQFVMHRGLIISTMQAVFSSVFYFASVPLYQGFLMVGYATIYTMFPVFSLVLDQDVKPEMAMLYPELYKDLTKGRSLSFKTFLIWVLISIYQGGILMYGALVLFESEFVHVVAISFTALILTELLMVALTVRTWHWLMVVAEFLSLGCYVSSLAFLNEYFGIGRVSFGAFLDVAFITTVTFLWKVSAITVVSCLPLYVLKYLRRKLSPPSYCKLAS", "length": 1147, "header": "sp|O43861-1|ATP9B_HUMAN Isoform 1 of Probable phospholipid-transporting ATPase IIB OS=Homo sapiens OX=9606 GN=ATP9B PE=2 SV=4 CANONICAL=O43861-1" }, "locus": { "chromosome": "18", "start_pos": 79377380, "end_pos": 79069411, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000426216.6", "url": "https://www.ensembl.org/id/ENST00000426216.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000398076.2", "url": "https://www.ensembl.org/id/ENSP00000398076.2" } ] } }, { "isoform_ac": "O43861-2", "url": "", "sequence": { "sequence": "MADQIPLYPVRSAAAAAANRKRAAYYSAAGPRPGADRHSRYQLEDESAHLDEMPLMMSEEGFENEESDYHTLPRARIMQRKRGLEWFVCDGWKFLCTSCCGWLINICRRKKELKARTVWLGCPEKCEEKHPRNSIKNQKYNVFTFIPGVLYEQFKFFLNLYFLVISCSQFVPALKIGYLYTYWAPLGFVLAVTMTREAIDEFRRFQRDKEVNSQLYSKLTVRGKVQVKSSDIQVGDLIIVEKNQRIPSDMVFLRTSEKAGSCFIRTDQLDGETDWKLKVAVSCTQQLPALGDLFSISAYVYAQKPQMDIHSFEGTFTREDSDPPIHESLSIENTLWASTIVASGTVIGVVIYTGKETRSVMNTSNPKNKVGLLDLELNRLTKALFLALVALSIVMVTLQGFVGPWYRNLFRFLLLFSYIIPISLRVNLDMGKAVYGWMMMKDENIPGTVVRTSTIPEELGRLVYLLTDKTGTLTQNEMIFKRLHLGTVSYGADTMDEIQSHVRDSYSQMQSQAGGNNTGSTPLRKAQSSAPKVRKSVSSRIHEAVKAIVLCHNVTPVYESRAGVTEETEFAEADQDFSDENRTYQASSPDEVALVQWTESVGLTLVSRDLTSMQLKTPSGQVLSFCILQLFPFTSESKRMGVIVRDESTAEITFYMKGADVAMSPIVQYNDWLEEECGNMAREGLRTLVVAKKALTEEQYQDFESRYTQAKLSMHDRSLKVAAVVESLEREMELLCLTGVEDQLQADVRPTLEMLRNAGIKIWMLTGDKLETATCIAKSSHLVSRTQDIHIFRQVTSRGEAHLELNAFRRKHDCALVISGDSLEVCLKYYEHEFVELACQCPAVVCCRCSPTQKARIVTLLQQHTGRRTCAIGDGGNDVSMIQAADCGIGIEGKEGKQASLAADFSITQFRHIGRLLMVHGRNSYKRSAALGQFVMHRGLIISTMQAVFSSVFYFASVPLYQGFLMVGYATIYTMFPVFSLVLDQDVKPEMAMLYPELYKDLTKGRSLSFKTFLIWVLISIYQGGILMYGALVLFESEFVHVVAISFTALILTELLMVALTVRTWHWLMVVAEFLSLGCYVSSLAFLNEYFDVAFITTVTFLWKVSAITVVSCLPLYVLKYLRRKLSPPSYCKLAS", "length": 1136, "header": "sp|O43861-2|ATP9B_HUMAN Isoform 2 of Probable phospholipid-transporting ATPase IIB OS=Homo sapiens OX=9606 GN=ATP9B PE=2 SV=4 CANONICAL=O43861-1" }, "locus": { "chromosome": "18", "start_pos": 79377380, "end_pos": 79069411, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000307671.12", "url": "https://www.ensembl.org/id/ENST00000307671.12" }, { "database": "Ensembl Peptide", "id": "ENSP00000304500.7", "url": "https://www.ensembl.org/id/ENSP00000304500.7" } ] } } ], "glycosylation": [], "phosphorylation": [ { "start_pos": 25, "end_pos": 25, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O43861", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43861" }, { "database": "PubMed", "id": "19901323", "url": "https://glygen.org/publication/PubMed/19901323" } ], "site_lbl": "Tyr25" }, { "start_pos": 69, "end_pos": 69, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O43861", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43861" }, { "database": "PubMed", "id": "19901323", "url": "https://glygen.org/publication/PubMed/19901323" } ], "site_lbl": "Tyr69" } ], "glycation": [], "keywords": [ "enzyme" ], "publication": [ { "title": "Defective copper-induced trafficking and localization of the Menkes protein in patients with mild and copper-treated classical Menkes disease.", "journal": "Human molecular genetics", "date": "1999", "authors": "Ambrosini L, Mercer JF", "evidence": [ { "database": "Reactome", "id": "R-HSA-936837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-936837" } ], "reference": [ { "type": "PubMed", "id": "10401004", "url": "https://glygen.org/publication/PubMed/10401004" } ] }, { "title": "The Menkes protein (ATP7A; MNK) cycles via the plasma membrane both in basal and elevated extracellular copper using a C-terminal di-leucine endocytic signal.", "journal": "Human molecular genetics", "date": "1999", "authors": "Petris MJ, Mercer JF", "evidence": [ { "database": "Reactome", "id": "R-HSA-936837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-936837" } ], "reference": [ { "type": "PubMed", "id": "10484781", "url": "https://glygen.org/publication/PubMed/10484781" } ] }, { "title": "Mutations in ATP2C1, encoding a calcium pump, cause Hailey-Hailey disease.", "journal": "Nature genetics", "date": "2000", "authors": "Hu Z, Bonifas JM, Beech J, Bench G, Shigihara T, Ogawa H, Ikeda S, Mauro T, Epstein EH Jr", "evidence": [ { "database": "Reactome", "id": "R-HSA-936837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-936837" } ], "reference": [ { "type": "PubMed", "id": "10615129", "url": "https://glygen.org/publication/PubMed/10615129" } ] }, { "title": "Hailey-Hailey disease is caused by mutations in ATP2C1 encoding a novel Ca(2+) pump.", "journal": "Human molecular genetics", "date": "2000", "authors": "Sudbrak R, Brown J, Dobson-Stone C, Carter S, Ramser J, White J, Healy E, Dissanayake M, Larregue M, Perrussel M, Lehrach H, Munro CS, Strachan T, Burge S, Hovnanian A, Monaco AP", "evidence": [ { "database": "Reactome", "id": "R-HSA-936837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-936837" } ], "reference": [ { "type": "PubMed", "id": "10767338", "url": "https://glygen.org/publication/PubMed/10767338" } ] }, { "title": "Characterization of 16 novel human genes showing high similarity to yeast sequences.", "journal": "Yeast", "date": "2001", "authors": "Stanchi F, Bertocco E, Toppo S, Dioguardi R, Simionati B, Cannata N, Zimbello R, Lanfranchi G, Valle G", "evidence": [ { "database": "UniProtKB", "id": "O43861", "url": "https://www.uniprot.org/uniprot/O43861" } ], "reference": [ { "type": "PubMed", "id": "11124703", "url": "https://glygen.org/publication/PubMed/11124703" } ] }, { "title": "The secretory pathway Ca2+/Mn2+-ATPase 2 is a Golgi-localized pump with high affinity for Ca2+ ions.", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Vanoevelen J, Dode L, Van Baelen K, Fairclough RJ, Missiaen L, Raeymaekers L, Wuytack F", "evidence": [ { "database": "Reactome", "id": "R-HSA-936837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-936837" } ], "reference": [ { "type": "PubMed", "id": "15831496", "url": "https://glygen.org/publication/PubMed/15831496" } ] }, { "title": "The type 4 subfamily of P-type ATPases, putative aminophospholipid translocases with a role in human disease.", "journal": "Biochimica et biophysica acta", "date": "2005", "authors": "Paulusma CC, Oude Elferink RP", "evidence": [ { "database": "Reactome", "id": "R-HSA-936837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-936837" } ], "reference": [ { "type": "PubMed", "id": "15919184", "url": "https://glygen.org/publication/PubMed/15919184" } ] }, { "title": "Characterization of a novel cation transporter ATPase gene (ATP13A4) interrupted by 3q25-q29 inversion in an individual with language delay.", "journal": "Genomics", "date": "2005", "authors": "Kwasnicka-Crawford DA, Carson AR, Roberts W, Summers AM, Rehnstrom K, Jarvela I, Scherer SW", "evidence": [ { "database": "Reactome", "id": "R-HSA-936837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-936837" } ], "reference": [ { "type": "PubMed", "id": "15925480", "url": "https://glygen.org/publication/PubMed/15925480" } ] }, { "title": "Identification and characterization of a novel Cut family cDNA that encodes human copper transporter protein CutC.", "journal": "Biochemical and biophysical research communications", "date": "2005", "authors": "Li J, Ji C, Chen J, Yang Z, Wang Y, Fei X, Zheng M, Gu X, Wen G, Xie Y, Mao Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-936837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-936837" } ], "reference": [ { "type": "PubMed", "id": "16182249", "url": "https://glygen.org/publication/PubMed/16182249" } ] }, { "title": "cDNA cloning of the beta-subunit of the human gastric H,K-ATPase.", "journal": "Biochemical and biophysical research communications", "date": "1991", "authors": "Ma JY, Song YH, Sjostrand SE, Rask L, Mardh S", "evidence": [ { "database": "Reactome", "id": "R-HSA-936837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-936837" } ], "reference": [ { "type": "PubMed", "id": "1656976", "url": "https://glygen.org/publication/PubMed/1656976" } ] }, { "title": "Review article: the clinical pharmacology of proton pump inhibitors.", "journal": "Alimentary pharmacology & therapeutics", "date": "2006", "authors": "Sachs G, Shin JM, Howden CW", "evidence": [ { "database": "Reactome", "id": "R-HSA-936837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-936837" } ], "reference": [ { "type": "PubMed", "id": "16700898", "url": "https://glygen.org/publication/PubMed/16700898" } ] }, { "title": "Knock down of Caenorhabditis elegans cutc-1 exacerbates the sensitivity toward high levels of copper.", "journal": "Toxicological sciences : an official journal of the Society of Toxicology", "date": "2008", "authors": "Calafato S, Swain S, Hughes S, Kille P, Sturzenbaum SR", "evidence": [ { "database": "Reactome", "id": "R-HSA-936837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-936837" } ], "reference": [ { "type": "PubMed", "id": "18723824", "url": "https://glygen.org/publication/PubMed/18723824" } ] }, { "title": "Cd2+, Mn2+, Ni2+ and Se2+ toxicity to Saccharomyces cerevisiae lacking YPK9p the orthologue of human ATP13A2.", "journal": "Biochemical and biophysical research communications", "date": "2009", "authors": "Schmidt K, Wolfe DM, Stiller B, Pearce DA", "evidence": [ { "database": "Reactome", "id": "R-HSA-936837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-936837" } ], "reference": [ { "type": "PubMed", "id": "19345671", "url": "https://glygen.org/publication/PubMed/19345671" } ] }, { "title": "Crystal structure of human copper homeostasis protein CutC reveals a potential copper-binding site.", "journal": "Journal of structural biology", "date": "2010", "authors": "Li Y, Du J, Zhang P, Ding J", "evidence": [ { "database": "Reactome", "id": "R-HSA-936837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-936837" } ], "reference": [ { "type": "PubMed", "id": "19878721", "url": "https://glygen.org/publication/PubMed/19878721" } ] }, { "title": "Multiple myeloma phosphotyrosine proteomic profile associated with FGFR3 expression, ligand activation, and drug inhibition.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2009", "authors": "St-Germain JR, Taylor P, Tong J, Jin LL, Nikolic A, Stewart II, Ewing RM, Dharsee M, Li Z, Trudel S, Moran MF", "evidence": [ { "database": "iPTMnet", "id": "O43861-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43861-1" } ], "reference": [ { "type": "PubMed", "id": "19901323", "url": "https://glygen.org/publication/PubMed/19901323" } ] }, { "title": "Human gastric (H+ + K+)-ATPase gene. Similarity to (Na+ + K+)-ATPase genes in exon/intron organization but difference in control region.", "journal": "The Journal of biological chemistry", "date": "1990", "authors": "Maeda M, Oshiman K, Tamura S, Futai M", "evidence": [ { "database": "Reactome", "id": "R-HSA-936837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-936837" } ], "reference": [ { "type": "PubMed", "id": "2160952", "url": "https://glygen.org/publication/PubMed/2160952" } ] }, { "title": "ATP9B, a P4-ATPase (a putative aminophospholipid translocase), localizes to the trans-Golgi network in a CDC50 protein-independent manner.", "journal": "J. Biol. Chem.", "date": "2011", "authors": "Takatsu H, Baba K, Shima T, Umino H, Kato U, Umeda M, Nakayama K, Shin HW", "evidence": [ { "database": "UniProtKB", "id": "O43861", "url": "https://www.uniprot.org/uniprot/O43861" } ], "reference": [ { "type": "PubMed", "id": "21914794", "url": "https://glygen.org/publication/PubMed/21914794" } ] }, { "title": "PARK9-associated ATP13A2 localizes to intracellular acidic vesicles and regulates cation homeostasis and neuronal integrity.", "journal": "Human molecular genetics", "date": "2012", "authors": "Ramonet D, Podhajska A, Stafa K, Sonnay S, Trancikova A, Tsika E, Pletnikova O, Troncoso JC, Glauser L, Moore DJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-936837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-936837" } ], "reference": [ { "type": "PubMed", "id": "22186024", "url": "https://glygen.org/publication/PubMed/22186024" } ] }, { "title": "Specific binding of HLA-B44 to human macrophage MHC receptor 1 on monocytes.", "journal": "Gene", "date": "2012", "authors": "Tashiro-Yamaji J, Shimizu T, Hayashi M, Yamana H, Tanigawa N, Uchiyama K, Kubota T, Yoshida R", "evidence": [ { "database": "RefSeq", "id": "NP_001293014", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001293014" } ], "reference": [ { "type": "PubMed", "id": "22525042", "url": "https://glygen.org/publication/PubMed/22525042" } ] }, { "title": "Early-onset autosomal-recessive parkinsonian-pyramidal syndrome.", "journal": "Acta neurologica Taiwanica", "date": "2012", "authors": "Lai HJ, Lin CH, Wu RM", "evidence": [ { "database": "Reactome", "id": "R-HSA-936837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-936837" } ], "reference": [ { "type": "PubMed", "id": "23196729", "url": "https://glygen.org/publication/PubMed/23196729" } ] }, { "title": "The yeast p5 type ATPase, spf1, regulates manganese transport into the endoplasmic reticulum.", "journal": "PloS one", "date": "2013", "authors": "Cohen Y, Megyeri M, Chen OC, Condomitti G, Riezman I, Loizides-Mangold U, Abdul-Sada A, Rimon N, Riezman H, Platt FM, Futerman AH, Schuldiner M", "evidence": [ { "database": "Reactome", "id": "R-HSA-936837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-936837" } ], "reference": [ { "type": "PubMed", "id": "24392018", "url": "https://glygen.org/publication/PubMed/24392018" } ] }, { "title": "Pharmacokinetics, Pharmacodynamics and Safety of Multiple-Infusion Ilaprazole in Healthy Chinese Subjects.", "journal": "Clinical drug investigation", "date": "2016", "authors": "Wang H, Lang L, Ou N, Shi R, Hu H, Hu P, Jiang J", "evidence": [ { "database": "Reactome", "id": "R-HSA-936837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-936837" } ], "reference": [ { "type": "PubMed", "id": "27067231", "url": "https://glygen.org/publication/PubMed/27067231" } ] }, { "title": "Effect of omeprazole--a gastric proton pump inhibitor--on pentagastrin stimulated acid secretion in man.", "journal": "Gut", "date": "1983", "authors": "Lind T, Cederberg C, Ekenved G, Haglund U, Olbe L", "evidence": [ { "database": "Reactome", "id": "R-HSA-936837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-936837" } ], "reference": [ { "type": "PubMed", "id": "6832622", "url": "https://glygen.org/publication/PubMed/6832622" } ] }, { "title": "The Wilson disease gene: spectrum of mutations and their consequences.", "journal": "Nature genetics", "date": "1995", "authors": "Thomas GR, Forbes JR, Roberts EA, Walshe JM, Cox DW", "evidence": [ { "database": "Reactome", "id": "R-HSA-936837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-936837" } ], "reference": [ { "type": "PubMed", "id": "7626145", "url": "https://glygen.org/publication/PubMed/7626145" } ] }, { "title": "Cloning and characterization of the entire cDNA encoded by ATP1AL1--a member of the human Na,K/H,K-ATPase gene family.", "journal": "FEBS letters", "date": "1994", "authors": "Grishin AV, Sverdlov VE, Kostina MB, Modyanov NN", "evidence": [ { "database": "Reactome", "id": "R-HSA-936837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-936837" } ], "reference": [ { "type": "PubMed", "id": "8045293", "url": "https://glygen.org/publication/PubMed/8045293" } ] }, { "title": "The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene.", "journal": "Nature genetics", "date": "1993", "authors": "Bull PC, Thomas GR, Rommens JM, Forbes JR, Cox DW", "evidence": [ { "database": "Reactome", "id": "R-HSA-936837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-936837" } ], "reference": [ { "type": "PubMed", "id": "8298639", "url": "https://glygen.org/publication/PubMed/8298639" } ] }, { "title": "Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein.", "journal": "Nature genetics", "date": "1993", "authors": "Chelly J, Tumer Z, Tonnesen T, Petterson A, Ishikawa-Brush Y, Tommerup N, Horn N, Monaco AP", "evidence": [ { "database": "Reactome", "id": "R-HSA-936837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-936837" } ], "reference": [ { "type": "PubMed", "id": "8490646", "url": "https://glygen.org/publication/PubMed/8490646" } ] }, { "title": "Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase.", "journal": "Nature genetics", "date": "1993", "authors": "Vulpe C, Levinson B, Whitney S, Packman S, Gitschier J", "evidence": [ { "database": "Reactome", "id": "R-HSA-936837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-936837" } ], "reference": [ { "type": "PubMed", "id": "8490659", "url": "https://glygen.org/publication/PubMed/8490659" } ] }, { "title": "Immunocytochemical localization of the Menkes copper transport protein (ATP7A) to the trans-Golgi network.", "journal": "Human molecular genetics", "date": "1997", "authors": "Dierick HA, Adam AN, Escara-Wilke JF, Glover TW", "evidence": [ { "database": "Reactome", "id": "R-HSA-936837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-936837" } ], "reference": [ { "type": "PubMed", "id": "9147644", "url": "https://glygen.org/publication/PubMed/9147644" } ] }, { "title": "Two forms of Wilson disease protein produced by alternative splicing are localized in distinct cellular compartments.", "journal": "The Biochemical journal", "date": "1997", "authors": "Yang XL, Miura N, Kawarada Y, Terada K, Petrukhin K, Gilliam T, Sugiyama T", "evidence": [ { "database": "Reactome", "id": "R-HSA-936837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-936837" } ], "reference": [ { "type": "PubMed", "id": "9307043", "url": "https://glygen.org/publication/PubMed/9307043" } ] }, { "title": "Multiple members of a third subfamily of P-type ATPases identified by genomic sequences and ESTs.", "journal": "Genome Res.", "date": "1998", "authors": "Halleck MS, Pradhan D, Blackman C, Berkes C, Williamson P, Schlegel RA", "evidence": [ { "database": "UniProtKB", "id": "O43861", "url": "https://www.uniprot.org/uniprot/O43861" } ], "reference": [ { "type": "PubMed", "id": "9548971", "url": "https://glygen.org/publication/PubMed/9548971" } ] } ], "pathway": [ { "id": "hsa:374868", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:374868", "resource": "KEGG Pathway" }, { "id": "R-HSA-936837", "name": "Ion transport by P-type ATPases", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-936837", "resource": "Reactome", "description": "Ion transport by P-type ATPases" } ], "orthologs": [ { "uniprot_canonical_ac": "D4ABB8-1", "protein_name": "Probable phospholipid-transporting ATPase IIB", "gene_name": "Atp9b", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MADQIPLYPVRSAAAAAASHRRAAYYSAVGPGPGADRRGRYQLEDESAHLDEMPLMMSEEGFENDESDYHTLPRARITRRERGLEWFVCGGWKFLCTSCCDWLINVCQRKKELKARTVWLGCPEKCEEKHPRNSIKNQKYNVFTFIPGVLYEQFKFFLNLYFLVVSCSQFVPALKIGYLYTYWAPLGFVMAVTIAREAIDEFRRFQRDKEMNSQLYSKLTVRGKVQVKSSDIQVGDLIIVEKNQRIPSDMVFLRTSEKAGSCFIRTDQLDGETDWKLKVAVSCTQRLPALGDLFSISAYVYAQKPQLDIHSFEGTFTRDDSDPPIHESLSIENTLWASTIVASGTVIGVVIYTGKETRSVMNTSNPKNKVGLLDLELNQLTKALFLALVVLSVVMVTLQGFAGPWYRNLFRFLLLFSYIIPISLRVNLDMGKAAYGWMIMKDENIPGTVVRTSTIPEELGRLVYLLTDKTGTLTQNEMVFKRLHLGTVSYGTDTMDEIQSHVLNSYLQVHSQTSGHNPSSAPLRRSQSSTPKVKKSVSSRIHEAVKAIALCHNVTPVYEARTGITGETEFAEADQDFSDENRTYQASSPDEVALVRWTESVGLTLVSRDLASMQLKTPSGQVLTYCILQMFPFTSESKRMGIIVRDEATAEITFYMKGADVAMSTIVQYNDWLEEECGNMAREGLRTLVVAKRTLTEEQYQDFESRYSQAKLSIHDRTLKVAAVVESLEREMELLCLTGVEDQLQADVRPTLEMLRNAGIKIWMLTGDKLETATCIAKSSHLVSRTQDIHIFRPVTNRGEAHLELNAFRRKHDCALVISGDSLEVCLRYYEHELVELACQCPAVVCCRCSPTQKAHIVTLLRQHTRKRTCAIGDGGNDVSMIQAADCGIGIEGKEGKQASLAADFSITQFRHIGRLLMVHGRNSYKRSAALGQFVMHRGLIISTMQAVFSSVFYFASVPLYQGFLMVGYATIYTMFPVFSLVLDQDVKPEMAILYPELYKDLTKGRSLSFKTFLIWVLISIYQGGILMYGALLLFEAEFVHVVAISFTALILTELLMVALTIRTWHWLMVVAEFLSLGCYVASLAFLNEYFGIGRVSFGAFLDVAFITTVTFLWKVSAITVVSCLPLYVLKYLKRKLSPPSYSKLSS", "length": 1147 }, "evidence": [ { "id": "45921302", "url": "http://www.informatics.jax.org/homology/45921302", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "P40527-1", "protein_name": "Phospholipid-transporting ATPase NEO1", "gene_name": "NEO1", "tax_id": 559292, "organism": "Saccharomyces cerevisiae S288C", "sequence": { "sequence": "MPNPPSFKSHKQNLFNSNNNQHANSVDSFDLHLDDSFDAALDSLQINNNPEPLSKHNTVGDRESFEMRTVDDLDNFSNHSSDSHRKSSNTDTHPLMYDNRLSQDDNFKFTNIASSPPSSSNNIFSKALSYLKVSNTKNWSKFGSPIELSDQHIEREIHPDTTPVYDRNRYVSNELSNAKYNAVTFVPTLLYEQFKFFYNLYFLVVALSQAVPALRIGYLSSYIVPLAFVLTVTMAKEAIDDIQRRRRDRESNNELYHVITRNRSIPSKDLKVGDLIKVHKGDRIPADLVLLQSSEPSGESFIKTDQLDGETDWKLRVACPLTQNLSENDLINRISITASAPEKSIHKFLGKVTYKDSTSNPLSVDNTLWANTVLASSGFCIACVVYTGRDTRQAMNTTTAKVKTGLLELEINSISKILCACVFALSILLVAFAGFHNDDWYIDILRYLILFSTIIPVSLRVNLDLAKSVYAHQIEHDKTIPETIVRTSTIPEDLGRIEYLLSDKTGTLTQNDMQLKKIHLGTVSYTSETLDIVSDYVQSLVSSKNDSLNNSKVALSTTRKDMSFRVRDMILTLAICHNVTPTFEDDELTYQAASPDEIAIVKFTESVGLSLFKRDRHSISLLHEHSGKTLNYEILQVFPFNSDSKRMGIIVRDEQLDEYWFMQKGADTVMSKIVESNDWLEEETGNMAREGLRTLVIGRKKLNKKIYEQFQKEYNDASLSMLNRDQQMSQVITKYLEHDLELLGLTGVEDKLQKDVKSSIELLRNAGIKIWMLTGDKVETARCVSISAKLISRGQYVHTITKVTRPEGAFNQLEYLKINRNACLLIDGESLGMFLKHYEQEFFDVVVHLPTVIACRCTPQQKADVALVIRKMTGKRVCCIGDGGNDVSMIQCADVGVGIVGKEGKQASLAADFSITQFCHLTELLLWHGRNSYKRSAKLAQFVMHRGLIIAICQAVYSICSLFEPIALYQGWLMVGYATCYTMAPVFSLTLDHDIEESLTKIYPELYKELTEGKSLSYKTFFVWVLLSLFQGSVIQLFSQAFTSLLDTDFTRMVAISFTALVVNELIMVALEIYTWNKTMLVTEIATLLFYIVSVPFLGDYFDLGYMTTVNYYAGLLVILLISIFPVWTAKAIYRRLHPPSYAKVQEFATP", "length": 1151 }, "evidence": [ { "id": "O43861", "url": "https://omabrowser.org/oma/group/O43861/", "database": "OMA" } ], "common_name": "Yeast" }, { "uniprot_canonical_ac": "P98195-1", "protein_name": "Probable phospholipid-transporting ATPase IIB", "gene_name": "Atp9b", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MADQIPLYPVRSAGAAASHRRAAYYSSAGPGPGADRRGRYQLEDESAHLDEMPLMMSEEGFENDESDYHTLPRARITRRKRGLEWFVCGGWKFLCTSCCDWLINVCQRKKELKARTVWLGCPEKCEEKHPRNSIKNQKYNVFTFIPGVLYEQFKFFLNLYFLVVSCSQFVPALKIGYLYTYWAPLGFVLAVTIAREAIDEFRRFQRDKEMNSQLYSKLTVRGKVQVKSSDIQVGDLIIVEKNQRIPSDMVFLRTSEKAGSCFIRTDQLDGETDWKLKVAVSCTQRLPALGDLFSISAYVYAQKPQLDIHSFEGTFTREDSDPPIHESLSIENTLWASTIVASGTVIGVVIYTGKETRSVMNTSNPNNKVGLLDLELNQLTKALFLALVVLSVVMVTLQGFAGPWYRNLFRFLLLFSYIIPISLRVNLDMGKAAYGWMIMKDENIPGTVVRTSTIPEELGRLVYLLTDKTGTLTQNEMVFKRLHLGTVSYGTDTMDEIQSHVLNSYLQVHSQPSGHNPSSAPLRRSQSSTPKVKKSVSSRIHEAVKAIALCHNVTPVYEARAGITGETEFAEADQDFSDENRTYQASSPDEVALVRWTESVGLTLVSRDLASMQLKTPSGQVLTYCILQMFPFTSESKRMGIIVRDESTAEITFYMKGADVAMSTIVQYNDWLEEECGNMAREGLRTLVVAKRTLTEEQYQDFESRYSQAKLSIHDRALKVAAVVESLEREMELLCLTGVEDQLQADVRPTLEMLRNAGIKIWMLTGDKLETATCIAKSSHLVSRTQDIHVFRPVTSRGEAHLELNAFRRKHDCALVISGDSLEVCLRYYEHELVELACQCPAVVCCRCSPTQKAHIVTLLRQHTRKRTCAIGDGGNDVSMIQAADCGIGIEGKEGKQASLAADFSITQFRHIGRLLMVHGRNSYKRSAALGQFVMHRGLIISTMQAVFSSVFYFASVPLYQGFLMVGYATIYTMFPVFSLVLDQDVKPEMAILYPELYKDLTKGRSLSFKTFLIWVLISIYQGGILMYGALLLFEDEFVHVVAISFTALILTELLMVALTIRTWHWLMVVAEFLSLGCYVASLAFLNEYFGIGRVSFGAFLDVAFITTVTFLWKVSAITVVSCLPLYVLKYLKRKLSPPSYSKLSS", "length": 1146 }, "evidence": [ { "id": "45921302", "url": "http://www.informatics.jax.org/homology/45921302", "database": "MGI" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "Q9VK06-1", "protein_name": "Phospholipid-transporting ATPase", "gene_name": "CG6263", "tax_id": 7227, "organism": "Drosophila melanogaster", "sequence": { "sequence": "MAESNVPLRDFDEESETDSETELLIRRDVPSGKQNNNNIRGRRKSSMGYSGVDAGAGSSAAGGGGSFLGNLFGSNSFGSAAGQIRYRNERSRERAKHSNGSYSSISKLAQLTHTSSGVAGAGSIGGGGGGSGSATGIKVTTGDGSVAASGGSAATGDLSNGATHSTTVIDPENGSSTVFYQHNRRKSKSRSIGNVCKLCLCSCWRKWFRPRELRARTVNLGRVNTEKFPPNEIRNQKYNFITFLPLVLFEQFRFFLNLYFLLMALSQFIPDIRIGYPYTYWGPLGFVLMVTICREAVDDLRRHQRDHEVNSQKYKRLSSTNISGYEMVPSSKLKVGDVIIVEKNERVPADLILLRTSDRSGSVFVRTDQLDGETDWKPRLAVPYTQKLSRDSELHSIDASFYVEKPQNDIHSFIATFCMADGSEDTGLSVENTLWANTVVAAGTATGIVIYTGCETRSVMNNSQPRSKVGLLDMEINGLTKVLFCAVLGLSLVMMMLKGFGGPWYRYMFRFVLLFSYIIPISLRVNLDMGKAFYSWQMQNDSNIQGTVVRSTTIPEELGRISYVLTDKTGTLTQNEMVFKKIHLGIVSHDADTFHHIGQMIQKLSGNILQQQQGSLSSSSSGGDSTKPMMFGNRMRRPEGWREWEAVRALALCHNVTPVSDDEDNRSVSTASTVTGGNNSPTKSVINIEAPGSTDTEHQYQAASPDEIALVKWTEQVGLTLIARDLNTMTLQVKTPSEDNDILLHYQILQLFPFTSESKRMGIIVRESKTGQITFYLKGADVVMSSIVQYNDWLSEESGNMAREGLRTLVVAKKVLTEEQYSDFETRYNAARLSITDRVAKVAAVTESLERELELLCLTGVEDRLQENVRPTLELLRNAGVRVWMLTGDKLETACCIAKSSQLIGRNQGLHVLRSVKTRTDAHQELNSFRRKQGHALVISGESLEVCLQYYRPEFLELATASPAVVCCRCSPTQKAQVVALIQKHTGKRTCAVGDGGNDVSMIQQADAGVGIEGREGRQASLAGDFSIPQFSHIAKLLLIHGRRSYKRSAALSQFVIHRGLIITTLQAVFSAVFYLSSVALYQGFLMVGYSTLYTMFPVFSLVLDQDITSETAVTYPELYKDLSKGRSLSYKTFFIWVLISIYQGGVIMYGALILFVDEFIHIVAISFSALIMTELIMVALTVRTWHRLMVLAELFSLALYLISLAVLHEYFDWEFIWSYDFLWKVSLITLVSCLPLYIIKFLRKKCSPPSYLKLS", "length": 1256 }, "evidence": [ { "id": "O43861", "url": "https://omabrowser.org/oma/group/O43861/", "database": "OMA" } ], "common_name": "Fruit fly" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 5, "go_terms": [ { "name": "magnesium ion binding", "id": "GO:0000287", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000287", "evidence": [ { "database": "UniProtKB", "id": "O43861", "url": "https://www.uniprot.org/uniprot/O43861" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "O43861", "url": "https://www.uniprot.org/uniprot/O43861" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "O43861", "url": "https://www.uniprot.org/uniprot/O43861" } ], "pmid": "" }, { "name": "ATPase-coupled intramembrane lipid transporter activity", "id": "GO:0140326", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140326", "evidence": [ { "database": "UniProtKB", "id": "O43861", "url": "https://www.uniprot.org/uniprot/O43861" } ], "pmid": "" }, { "name": "nucleotide binding", "id": "GO:0000166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000166", "evidence": [ { "database": "UniProtKB", "id": "O43861", "url": "https://www.uniprot.org/uniprot/O43861" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 5, "go_terms": [ { "name": "endosome", "id": "GO:0005768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005768", "evidence": [ { "database": "UniProtKB", "id": "O43861", "url": "https://www.uniprot.org/uniprot/O43861" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "O43861", "url": "https://www.uniprot.org/uniprot/O43861" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "O43861", "url": "https://www.uniprot.org/uniprot/O43861" } ], "pmid": "" }, { "name": "trans-Golgi network", "id": "GO:0005802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005802", "evidence": [ { "database": "UniProtKB", "id": "O43861", "url": "https://www.uniprot.org/uniprot/O43861" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "O43861", "url": "https://www.uniprot.org/uniprot/O43861" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 3, "go_terms": [ { "name": "endocytosis", "id": "GO:0006897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006897", "evidence": [ { "database": "UniProtKB", "id": "O43861", "url": "https://www.uniprot.org/uniprot/O43861" } ], "pmid": "" }, { "name": "phospholipid translocation", "id": "GO:0045332", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045332", "evidence": [ { "database": "UniProtKB", "id": "O43861", "url": "https://www.uniprot.org/uniprot/O43861" } ], "pmid": "" }, { "name": "retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum", "id": "GO:0006890", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006890", "evidence": [ { "database": "UniProtKB", "id": "O43861", "url": "https://www.uniprot.org/uniprot/O43861" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 362, "end_pos": 364, "annotation": "n_glycosylation_sequon" }, { "start_pos": 516, "end_pos": 518, "annotation": "n_glycosylation_sequon" }, { "start_pos": 553, "end_pos": 555, "annotation": "n_glycosylation_sequon" }, { "start_pos": 581, "end_pos": 583, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "R-HSA-939763", "name": "P-type ATPases type IV transport external-facing APLs to internal side of the plasma membrane", "equation": "", "summary": "The plasma membrane contains a broad range of lipids making up the bilayer. Aminophospholipids such as phosphatidylserine (PS) and phosphatidylethanolamine (PE) are distributed in this bilayer and their arrangement is mediated by the P-type ATPases type IV family (Paulusma and Oude Elferink, 2005).", "cellular_location": "cytosol, plasma membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O60312-1", "O60423-2", "Q8TF62-1", "P98196-1", "Q8NB49-1", "Q9NTI2-4", "Q9Y2Q0-1", "O43861-1", "O75110-1", "O94823-1", "Q9P241-1", "Q9Y2G3-1", "O43520-1", "P98198-1" ], "evidence": [ { "id": "R-HSA-939763", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-939763" } ] }, { "id": "R-HSA-947591", "name": "P-type ATPases type IV transport internal-facing APLs to external side of the plasma membrane", "equation": "", "summary": "The plasma membrane contains a broad range of lipids making up the bilayer. Aminophospholipids (APLs) such as phosphatidylserine (PS) and phosphatidylethanolamine (PE) are distributed in this bilayer and their arrangement is mediated by the P-type ATPases type IV family (Paulusma and Oude Elferink, 2005).", "cellular_location": "cytosol, plasma membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O60312-1", "O60423-2", "Q8TF62-1", "P98196-1", "Q8NB49-1", "Q9NTI2-4", "Q9Y2Q0-1", "O43861-1", "O75110-1", "O94823-1", "Q9P241-1", "Q9Y2G3-1", "O43520-1", "P98198-1" ], "evidence": [ { "id": "R-HSA-947591", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-947591" } ] } ], "reaction_participants": [], "reaction_enzymes": [ { "uniprot_ac": "O43520", "gene_name": "ATP8B1", "activity": [ { "ec_number": "7.6.2.1", "activity": "ATP + H2O + phospholipidSide 1 = ADP + phosphate + phospholipidSide 2.", "evidence": [ { "id": "O43520", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O43520" } ] }, { "ec_number": "7.6.2.1", "activity": "", "evidence": [ { "id": "O43520", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O43520" } ] } ] }, { "uniprot_ac": "O43861", "gene_name": "ATP9B", "activity": [ { "ec_number": "7.6.2.1", "activity": "ATP + H2O + phospholipidSide 1 = ADP + phosphate + phospholipidSide 2.", "evidence": [ { "id": "O43861", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O43861" } ] }, { "ec_number": "7.6.2.1", "activity": "", "evidence": [ { "id": "O43861", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O43861" } ] } ] }, { "uniprot_ac": "O60312", "gene_name": "ATP10A", "activity": [ { "ec_number": "7.6.2.1", "activity": "ATP + H2O + phospholipidSide 1 = ADP + phosphate + phospholipidSide 2.", "evidence": [ { "id": "O60312", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60312" } ] }, { "ec_number": "7.6.2.1", "activity": "", "evidence": [ { "id": "O60312", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60312" } ] } ] }, { "uniprot_ac": "O60423", "gene_name": "ATP8B3", "activity": [ { "ec_number": "7.6.2.1", "activity": "ATP + H2O + phospholipidSide 1 = ADP + phosphate + phospholipidSide 2.", "evidence": [ { "id": "O60423", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60423" } ] }, { "ec_number": "7.6.2.1", "activity": "", "evidence": [ { "id": "O60423", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60423" } ] } ] }, { "uniprot_ac": "O75110", "gene_name": "ATP9A", "activity": [ { "ec_number": "7.6.2.1", "activity": "ATP + H2O + phospholipidSide 1 = ADP + phosphate + phospholipidSide 2.", "evidence": [ { "id": "O75110", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75110" } ] }, { "ec_number": "7.6.2.1", "activity": "", "evidence": [ { "id": "O75110", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75110" } ] } ] }, { "uniprot_ac": "O94823", "gene_name": "ATP10B", "activity": [ { "ec_number": "7.6.2.1", "activity": "ATP + H2O + phospholipidSide 1 = ADP + phosphate + phospholipidSide 2.", "evidence": [ { "id": "O94823", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O94823" } ] }, { "ec_number": "7.6.2.1", "activity": "", "evidence": [ { "id": "O94823", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O94823" } ] } ] }, { "uniprot_ac": "P98196", "gene_name": "ATP11A", "activity": [ { "ec_number": "7.6.2.1", "activity": "ATP + H2O + phospholipidSide 1 = ADP + phosphate + phospholipidSide 2.", "evidence": [ { "id": "P98196", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P98196" } ] }, { "ec_number": "7.6.2.1", "activity": "", "evidence": [ { "id": "P98196", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P98196" } ] } ] }, { "uniprot_ac": "P98198", "gene_name": "ATP8B2", "activity": [ { "ec_number": "7.6.2.1", "activity": "ATP + H2O + phospholipidSide 1 = ADP + phosphate + phospholipidSide 2.", "evidence": [ { "id": "P98198", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P98198" } ] }, { "ec_number": "7.6.2.1", "activity": "", "evidence": [ { "id": "P98198", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P98198" } ] } ] }, { "uniprot_ac": "Q8NB49", "gene_name": "ATP11C", "activity": [ { "ec_number": "7.6.2.1", "activity": "ATP + H2O + phospholipidSide 1 = ADP + phosphate + phospholipidSide 2.", "evidence": [ { "id": "Q8NB49", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8NB49" } ] }, { "ec_number": "7.6.2.1", "activity": "", "evidence": [ { "id": "Q8NB49", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8NB49" } ] } ] }, { "uniprot_ac": "Q8TF62", "gene_name": "ATP8B4", "activity": [ { "ec_number": "7.6.2.1", "activity": "ATP + H2O + phospholipidSide 1 = ADP + phosphate + phospholipidSide 2.", "evidence": [ { "id": "Q8TF62", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8TF62" } ] }, { "ec_number": "7.6.2.1", "activity": "", "evidence": [ { "id": "Q8TF62", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8TF62" } ] } ] }, { "uniprot_ac": "Q9NTI2", "gene_name": "ATP8A2", "activity": [ { "ec_number": "7.6.2.1", "activity": "ATP + H2O + phospholipidSide 1 = ADP + phosphate + phospholipidSide 2.", "evidence": [ { "id": "Q9NTI2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9NTI2" } ] }, { "ec_number": "7.6.2.1", "activity": "", "evidence": [ { "id": "Q9NTI2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9NTI2" } ] } ] }, { "uniprot_ac": "Q9P241", "gene_name": "ATP10D", "activity": [ { "ec_number": "7.6.2.1", "activity": "ATP + H2O + phospholipidSide 1 = ADP + phosphate + phospholipidSide 2.", "evidence": [ { "id": "Q9P241", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9P241" } ] }, { "ec_number": "7.6.2.1", "activity": "", "evidence": [ { "id": "Q9P241", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9P241" } ] } ] }, { "uniprot_ac": "Q9Y2G3", "gene_name": "ATP11B", "activity": [ { "ec_number": "7.6.2.1", "activity": "ATP + H2O + phospholipidSide 1 = ADP + phosphate + phospholipidSide 2.", "evidence": [ { "id": "Q9Y2G3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9Y2G3" } ] }, { "ec_number": "7.6.2.1", "activity": "", "evidence": [ { "id": "Q9Y2G3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9Y2G3" } ] } ] }, { "uniprot_ac": "Q9Y2Q0", "gene_name": "ATP8A1", "activity": [ { "ec_number": "7.6.2.1", "activity": "ATP + H2O + phospholipidSide 1 = ADP + phosphate + phospholipidSide 2.", "evidence": [ { "id": "Q9Y2Q0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9Y2Q0" } ] }, { "ec_number": "7.6.2.1", "activity": "", "evidence": [ { "id": "Q9Y2Q0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9Y2Q0" } ] } ] } ], "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": [], "o_linked_sites": [], "snv_sites": [ 992, 1135 ], "glycation_sites": [], "phosphorylation_sites": [ 25, 69 ], "sequon_annotation_sites": [ { "start_pos": 362, "end_pos": 364 }, { "start_pos": 516, "end_pos": 518 }, { "start_pos": 553, "end_pos": 555 }, { "start_pos": 581, "end_pos": 583 } ] }, "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": 2 }, { "field": "total_sites", "count": 2 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "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": 31 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }