{ "uniprot_canonical_ac": "O43747-1", "uniprot_ac": "O43747", "uniprot_id": "AP1G1_HUMAN", "mass": { "chemical_mass": 91351.0, "monoisotopic_mass": 91351.0 }, "refseq": { "ac": "NP_001025178", "name": "AP-1 complex subunit gamma-1 isoform a", "summary": "Adaptins are important components of clathrin-coated vesicles transporting ligand-receptor complexes from the plasma membrane or from the trans-Golgi network to lysosomes. The adaptin family of proteins is composed of four classes of molecules named alpha, beta-, beta prime- and gamma- adaptins. Adaptins, together with medium and small subunits, form a heterotetrameric complex called an adaptor, whose role is to promote the formation of clathrin-coated pits and vesicles. The protein encoded by this gene is a gamma-adaptin protein and it belongs to the adaptor complexes large subunits family. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001025178" }, "gene_names": [ { "name": "AP1G1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O43747", "id": "O43747" }, { "name": "ADTG; CLAPG1; USRISD", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001025178", "id": "NP_001025178" }, { "name": "ADTG", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O43747", "id": "O43747" }, { "name": "AP1G1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001025178", "id": "NP_001025178" }, { "name": "CLAPG1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O43747", "id": "O43747" } ], "protein_names": [ { "name": "AP-1 complex subunit gamma-1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O43747" }, { "name": "AP-1 complex subunit gamma-1 isoform a", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001025178", "id": "NP_001025178" }, { "name": "Adaptor protein complex AP-1 subunit gamma-1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43747" }, { "name": "Adaptor-related protein complex 1 subunit gamma-1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43747" }, { "name": "Clathrin assembly protein complex 1 gamma-1 large chain", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43747" }, { "name": "Gamma1-adaptin", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43747" }, { "name": "Golgi adaptor HA1/AP1 adaptin subunit gamma-1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43747" }, { "name": "clathrin-associated/assembly/adaptor protein, large, gamma 1; gamma1-adaptin; golgi adaptor HA1/AP1 adaptin gamma subunit; clathrin assembly protein complex 1 gamma large chain; gamma adaptin; AP-1 complex subunit gamma-1; adaptor protein complex AP-1 subunit gamma-1; golgi adaptor HA1/AP1 adaptin subunit gamma-1; testicular tissue protein Li 21; adaptor related protein complex 1 gamma 1 subunit; adapter-related protein complex 1 subunit gamma-1; clathrin assembly protein complex 1 gamma-1 large chain", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001025178", "id": "NP_001025178" } ], "function": [ { "annotation": "Adaptins are important components of clathrin-coated vesicles transporting ligand-receptor complexes from the plasma membrane or from the trans-Golgi network to lysosomes. The adaptin family of proteins is composed of four classes of molecules named alpha, beta-, beta prime- and gamma- adaptins. Adaptins, together with medium and small subunits, form a heterotetrameric complex called an adaptor, whose role is to promote the formation of clathrin-coated pits and vesicles. The protein encoded by this gene is a gamma-adaptin protein and it belongs to the adaptor complexes large subunits family. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_001025178", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001025178" } ] }, { "annotation": "Data indicate a functional link between adaptor protein complex 1 (AP-1) and the WD repeat protein 11 (WDR11) complex. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001025178", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001025178" }, { "database": "PubMed", "id": "29426865", "url": "https://glygen.org/publication/PubMed/29426865" } ] }, { "annotation": "De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy.", "evidence": [ { "database": "RefSeq", "id": "NP_001025178", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001025178" }, { "database": "PubMed", "id": "34102099", "url": "https://glygen.org/publication/PubMed/34102099" } ] }, { "annotation": "Depletion of the gamma2 or mu1A (AP1M1) subunits of AP-1, but not of gamma1 (AP1G1), precludes Nef-mediated lysosomal degradation of CD4.", "evidence": [ { "database": "RefSeq", "id": "NP_001025178", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001025178" }, { "database": "PubMed", "id": "27909244", "url": "https://glygen.org/publication/PubMed/27909244" } ] }, { "annotation": "High ASCT2 expression is associated with drug resistance head and neck squamous cell carcinoma.", "evidence": [ { "database": "RefSeq", "id": "NP_001025178", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001025178" }, { "database": "PubMed", "id": "28823958", "url": "https://glygen.org/publication/PubMed/28823958" } ] }, { "annotation": "Subunit of clathrin-associated adaptor protein complex 1 that plays a role in protein sorting in the late-Golgi/trans-Golgi network (TGN) and/or endosomes. The AP complexes mediate both the recruitment of clathrin to membranes and the recognition of sorting signals within the cytosolic tails of transmembrane cargo molecules. In association with AFTPH/aftiphilin in the aftiphilin/p200/gamma-synergin complex, involved in the trafficking of transferrin from early to recycling endosomes, and the membrane trafficking of furin and the lysosomal enzyme cathepsin D between the trans-Golgi network (TGN) and endosomes (PubMed:15758025).", "evidence": [ { "database": "UniProtKB", "id": "O43747", "url": "https://www.uniprot.org/uniprot/O43747#function" }, { "database": "PubMed", "id": "15758025", "url": "https://glygen.org/publication/PubMed/15758025" }, { "database": "PubMed", "id": "34102099", "url": "https://glygen.org/publication/PubMed/34102099" } ] } ], "disease": [ { "disease_id": "MONDO:0859174", "recommended_name": { "id": "MONDO:0859174", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0859174", "name": "Usmani-Riazuddin syndrome, autosomal dominant", "description": "" }, "synonyms": [ { "id": "MIM:619467", "resource": "MIM", "url": "https://www.omim.org/entry/619467", "name": "Usmani-Riazuddin syndrome, autosomal dominant", "description": "Usmani-Riazuddin syndrome, autosomal dominant" } ], "evidence": [ { "id": "619467", "database": "MIM", "url": "https://www.omim.org/entry/619467" } ] }, { "disease_id": "MONDO:0859196", "recommended_name": { "id": "MONDO:0859196", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0859196", "name": "Usmani-Riazuddin syndrome, autosomal recessive", "description": "" }, "synonyms": [ { "id": "MIM:619548", "resource": "MIM", "url": "https://www.omim.org/entry/619548", "name": "Usmani-Riazuddin syndrome, autosomal recessive", "description": "Usmani-Riazuddin syndrome, autosomal recessive" } ], "evidence": [ { "id": "619548", "database": "MIM", "url": "https://www.omim.org/entry/619548" } ] } ], "snv": [ { "evidence": [ { "id": "O43747", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O43747" } ], "glycoeffect": [], "start_pos": 251, "end_pos": 251, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "W", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "16", "chr_pos": "71764714", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R251", "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" } ] }, { "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": "" } ] }, { "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" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "85.42", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000166747", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000166747" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "91.34", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000166747", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000166747" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "87.35", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000166747", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000166747" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "66.33", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000166747", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000166747" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "90.43", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000166747", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000166747" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "93.04", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000166747", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000166747" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "68.58", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000166747", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000166747" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "87.03", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000166747", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000166747" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "90.99", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000166747", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000166747" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "71.24", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000166747", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000166747" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "93.87", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000166747", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000166747" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "88.46", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000166747", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000166747" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "90.13", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000166747", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000166747" } ] } ], "expression_disease": [ { "significant": "No", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O43747", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43747" } ], "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": "No", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O43747", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43747" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O43747", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43747" } ], "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": "O43747", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43747" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "No", "trend": "down", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "O43747", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43747" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "O43747", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43747" } ], "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": "No", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O43747", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43747" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "O43747", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43747" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "O43747", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43747" } ], "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": "up", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "O43747", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43747" } ], "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": "O43747", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43747" } ], "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": "O43747", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43747" } ], "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": "O43747", "url": "https://www.uniprot.org/uniprot/O43747" } ], "common_name": "Human" } ], "gene": [ { "name": "AP1G1", "url": "https://www.uniprot.org/uniprot/O43747", "locus": { "chromosome": "16", "start_pos": 71729000, "end_pos": 71809201, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000166747", "url": "https://www.ensembl.org/id/ENSG00000166747" } ] } } ], "crossref": [ { "id": "ENSG00000166747", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000166747", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "O43747", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O43747", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "AP1G1", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=AP1G1", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "164", "url": "https://www.ncbi.nlm.nih.gov/gene/164", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "555", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=555", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "O43747", "url": "https://www.ebi.ac.uk/intact/interactors/id:O43747*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR002553", "url": "https://www.ebi.ac.uk/interpro/entry/IPR002553", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR008152", "url": "https://www.ebi.ac.uk/interpro/entry/IPR008152", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR008153", "url": "https://www.ebi.ac.uk/interpro/entry/IPR008153", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR011989", "url": "https://www.ebi.ac.uk/interpro/entry/IPR011989", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR013041", "url": "https://www.ebi.ac.uk/interpro/entry/IPR013041", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR016024", "url": "https://www.ebi.ac.uk/interpro/entry/IPR016024", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR017107", "url": "https://www.ebi.ac.uk/interpro/entry/IPR017107", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:164", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:164", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "603533", "url": "http://www.omim.org/entry/603533", "database": "MIM", "categories": [ "Other" ] }, { "id": "619467", "url": "http://www.omim.org/entry/619467", "database": "MIM", "categories": [ "Other" ] }, { "id": "619548", "url": "http://www.omim.org/entry/619548", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O43747", "url": "https://www.nextprot.org/entry/NX_O43747", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "O43747", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43747", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "AICAMRI", "url": "https://omabrowser.org/oma/group/AICAMRI/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "25313at2759", "url": "http://www.orthodb.org/?query=25313at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR22780", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR22780", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR22780:SF26", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR22780:SF26", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR22780:SF5", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR22780:SF5", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "1IU1", "url": "https://www.rcsb.org/structure/1IU1", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF01602", "url": "http://pfam.xfam.org/family/PF01602", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF02883", "url": "http://pfam.xfam.org/family/PF02883", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O43747", "url": "https://pharos.nih.gov/targets/O43747", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O43747", "url": "http://purl.obolibrary.org/obo/PR_O43747", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-164940", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-164940", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-432720", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432720", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-432722", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432722", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001025178", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001025178", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "B3KNW1", "url": "https://www.uniprot.org/uniprot/B3KNW1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "B3KNW1-1", "url": "https://www.uniprot.org/uniprot/B3KNW1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "B4DGE1", "url": "https://www.uniprot.org/uniprot/B4DGE1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "B4DGE1-1", "url": "https://www.uniprot.org/uniprot/B4DGE1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BN71", "url": "https://www.uniprot.org/uniprot/H3BN71", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BN71-1", "url": "https://www.uniprot.org/uniprot/H3BN71-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BN75", "url": "https://www.uniprot.org/uniprot/H3BN75", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BN75-1", "url": "https://www.uniprot.org/uniprot/H3BN75-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BNN2", "url": "https://www.uniprot.org/uniprot/H3BNN2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BNN2-1", "url": "https://www.uniprot.org/uniprot/H3BNN2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BNR4", "url": "https://www.uniprot.org/uniprot/H3BNR4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BNR4-1", "url": "https://www.uniprot.org/uniprot/H3BNR4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BPN9", "url": "https://www.uniprot.org/uniprot/H3BPN9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BPN9-1", "url": "https://www.uniprot.org/uniprot/H3BPN9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BR36", "url": "https://www.uniprot.org/uniprot/H3BR36", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BR36-1", "url": "https://www.uniprot.org/uniprot/H3BR36-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BRM7", "url": "https://www.uniprot.org/uniprot/H3BRM7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BRM7-1", "url": "https://www.uniprot.org/uniprot/H3BRM7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BS13", "url": "https://www.uniprot.org/uniprot/H3BS13", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BS13-1", "url": "https://www.uniprot.org/uniprot/H3BS13-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BUN9", "url": "https://www.uniprot.org/uniprot/H3BUN9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BUN9-1", "url": "https://www.uniprot.org/uniprot/H3BUN9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BV30", "url": "https://www.uniprot.org/uniprot/H3BV30", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BV30-1", "url": "https://www.uniprot.org/uniprot/H3BV30-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43747", "url": "https://www.uniprot.org/uniprot/O43747", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43747-1", "url": "https://www.uniprot.org/uniprot/O43747-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43747-2", "url": "https://www.uniprot.org/uniprot/O43747-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MPAPIRLRELIRTIRTARTQAEEREMIQKECAAIRSSFREEDNTYRCRNVAKLLYMHMLGYPAHFGQLECLKLIASQKFTDKRIGYLGAMLLLDERQDVHLLMTNCIKNDLNHSTQFVQGLALCTLGCMGSSEMCRDLAGEVEKLLKTSNSYLRKKAALCAVHVIRKVPELMEMFLPATKNLLNEKNHGVLHTSVVLLTEMCERSPDMLAHFRKLVPQLVRILKNLIMSGYSPEHDVSGISDPFLQVRILRLLRILGRNDDDSSEAMNDILAQVATNTETSKNVGNAILYETVLTIMDIKSESGLRVLAINILGRFLLNNDKNIRYVALTSLLKTVQTDHNAVQRHRSTIVDCLKDLDVSIKRRAMELSFALVNGNNIRGMMKELLYFLDSCEPEFKADCASGIFLAAEKYAPSKRWHIDTIMRVLTTAGSYVRDDAVPNLIQLITNSVEMHAYTVQRLYKAILGDYSQQPLVQVAAWCIGEYGDLLVSGQCEEEEPIQVTEDEVLDILESVLISNMSTSVTRGYALTAIMKLSTRFTCTVNRIKKVVSIYGSSIDVELQQRAVEYNALFKKYDHMRSALLERMPVMEKVTTNGPTEIVQTNGETEPAPLETKPPPSGPQPTSQANDLLDLLGGNDITPVIPTAPTSKPSSAGGELLDLLGDINLTGAPAAAPAPASVPQISQPPFLLDGLSSQPLFNDIAAGIPSITAYSKNGLKIEFTFERSNTNPSVTVITIQASNSTELDMTDFVFQAAVPKTFQLQLLSPSSSIVPAFNTGTITQVIKVLNPQKQQLRMRIKLTYNHKGSAMQDLAEVNNFPPQSWQ", "length": 822, "header": "sp|O43747-1|AP1G1_HUMAN Isoform 1 of AP-1 complex subunit gamma-1 OS=Homo sapiens OX=9606 GN=AP1G1 PE=1 SV=5 CANONICAL=O43747-1" }, "isoforms": [ { "isoform_ac": "B3KNW1-1", "url": "", "sequence": { "sequence": "MRSALLERMPVMEKVTTNGPTEIVQTNGETEPAPLETKPPPSGPQPTSQANDLLDLLGGNDITPVIPTAPTSKPSSAGGELLDLLGDINLTGAPAAAPAPASVPQISQPPFLLDGLSSQPLFNDIAAGIPSITAYSKNGLKIEFTFERSNTNPSVTVITIQASNSTELDMTDFVFQAAVPKTFQLQLLSPSSSIVPAFNTGTITQVIKVLNPQKQQLRMRIKLTYNHKGSAMQDLAEVNNFPPQSWQ", "length": 247, "header": "tr|B3KNW1-1|AP1G1_HUMAN Computationally mapped isoform of AP-1 complex subunit gamma-1 OS=Homo sapiens OX=9606 GN=AP1G1 PE=1 SV=1 CANONICAL=O43747-1" }, "locus": { "chromosome": "16", "start_pos": 71746592, "end_pos": 71733061, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000564155.5", "url": "https://www.ensembl.org/id/ENST00000564155.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000454219.1", "url": "https://www.ensembl.org/id/ENSP00000454219.1" } ] } }, { "isoform_ac": "B4DGE1-1", "url": "", "sequence": { "sequence": "MPAPIRLRELIRTIRTARTQAEEREMIQKECAAIRSSFREEDNTYRCRNVAKLLYMHMLGYPAHFGQLECLKLIASQKFTDKRIGYLGAMLLLDERQDVHLLMTNCIKNDLNHSTQFVQGLALCTLGCMGSSEMCRDLAGEVEKLLKTSNSYLRKKEMIYKQTNVTGYILGGIPNS", "length": 176, "header": "tr|B4DGE1-1|B4DGE1_HUMAN Computationally mapped isoform of Adaptor related protein complex 1 subunit gamma 1 OS=Homo sapiens OX=9606 GN=AP1G1 PE=1 SV=1 CANONICAL=O43747-1" }, "locus": { "chromosome": "16", "start_pos": 71789479, "end_pos": 71772994, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000450149.6", "url": "https://www.ensembl.org/id/ENST00000450149.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000405836.2", "url": "https://www.ensembl.org/id/ENSP00000405836.2" } ] } }, { "isoform_ac": "H3BN71-1", "url": "", "sequence": { "sequence": "MPAPIRLRELIRTIRTARTQAEEREMIQKECAAIRSSFREEDNTYRCRNVAKLLYMHMLGYPAHFGQLECLKLIASQKFTDKRIGYLGAMLLLDERQDVHLLMTNCIKNDLNHSTQFVQGLALCTLGCMGSSEMCRDLAGEVEK", "length": 144, "header": "tr|H3BN71-1|AP1G1_HUMAN Computationally mapped isoform of AP-1 complex subunit gamma-1 OS=Homo sapiens OX=9606 GN=AP1G1 PE=1 SV=8 CANONICAL=O43747-1" }, "locus": { "chromosome": "16", "start_pos": 71789479, "end_pos": 71773257, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000563104.5", "url": "https://www.ensembl.org/id/ENST00000563104.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000454713.1", "url": "https://www.ensembl.org/id/ENSP00000454713.1" } ] } }, { "isoform_ac": "H3BN75-1", "url": "", "sequence": { "sequence": "MPAPIRLRELIRTIRTARTQAEEREMIQKECAAIRSSFREEDNTYRCRNVAKL", "length": 53, "header": "tr|H3BN75-1|AP1G1_HUMAN Computationally mapped isoform of AP-1 complex subunit gamma-1 OS=Homo sapiens OX=9606 GN=AP1G1 PE=1 SV=1 CANONICAL=O43747-1" }, "locus": { "chromosome": "16", "start_pos": 71789479, "end_pos": 71789321, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000569975.5", "url": "https://www.ensembl.org/id/ENST00000569975.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000454717.1", "url": "https://www.ensembl.org/id/ENSP00000454717.1" } ] } }, { "isoform_ac": "H3BNN2-1", "url": "", "sequence": { "sequence": "SEAMNDILAQVATNTETSKNVGNAILYETVLTIMDIKSESGLRICGSDIFVEDCTDRS", "length": 58, "header": "tr|H3BNN2-1|H3BNN2_HUMAN Computationally mapped isoform of Adaptor related protein complex 1 subunit gamma 1 OS=Homo sapiens OX=9606 GN=AP1G1 PE=1 SV=2 CANONICAL=O43747-1" }, "locus": { "chromosome": "16", "start_pos": 71764675, "end_pos": 71758877, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000566179.1", "url": "https://www.ensembl.org/id/ENST00000566179.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000454932.1", "url": "https://www.ensembl.org/id/ENSP00000454932.1" } ] } }, { "isoform_ac": "H3BNR4-1", "url": "", "sequence": { "sequence": "MPAPIRLRELIRTIRTARTQAEEREMIQKECAAIRSSFREEDNTYRCRNVAKLLYMHMLGYPAHFGQLECLKLIASQKFTDKRIGYLGAMLLLDERQDVHLLMTNCIKNDLNHSTQFVQGLALCTLGCMGSSEMCRDLAGEVEKLLKTSNSYLRKKAALCAVHVIRKVPELMEMFLPATKNLLNEKNHGVLHTSVVLLTEMCERSPDMLAHFRKVACAPISSYFKEPHHVRIFTRT", "length": 236, "header": "tr|H3BNR4-1|H3BNR4_HUMAN Computationally mapped isoform of Adaptor related protein complex 1 subunit gamma 1 OS=Homo sapiens OX=9606 GN=AP1G1 PE=1 SV=1 CANONICAL=O43747-1" }, "locus": { "chromosome": "16", "start_pos": 71789479, "end_pos": 71765523, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000568327.5", "url": "https://www.ensembl.org/id/ENST00000568327.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000454970.1", "url": "https://www.ensembl.org/id/ENSP00000454970.1" } ] } }, { "isoform_ac": "H3BPN9-1", "url": "", "sequence": { "sequence": "MPAPIRLRELIRTIRTARTQAEEREM", "length": 26, "header": "tr|H3BPN9-1|AP1G1_HUMAN Computationally mapped isoform of AP-1 complex subunit gamma-1 OS=Homo sapiens OX=9606 GN=AP1G1 PE=1 SV=1 CANONICAL=O43747-1" }, "locus": { "chromosome": "16", "start_pos": 71789479, "end_pos": 71789402, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000570017.1", "url": "https://www.ensembl.org/id/ENST00000570017.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000455400.1", "url": "https://www.ensembl.org/id/ENSP00000455400.1" } ] } }, { "isoform_ac": "H3BR36-1", "url": "", "sequence": { "sequence": "MPAPIRLRELIRTIRTARTQAEEREMIQKECAAIRSSFREEDNTYRCRNVAKLLYMHMLGYPAHFGQLECLKLIASQKFTDKRIGYLGAMLLLDERQDVHLLMTNCIKNDLNHSTQFVQGLALCTLGCMGSSEMCRDLAGEVEKLLKTSNSYLRKKAALCAVHVIRKVPELMEMFLPATKNLLNEKN", "length": 187, "header": "tr|H3BR36-1|H3BR36_HUMAN Computationally mapped isoform of Adaptor related protein complex 1 subunit gamma 1 OS=Homo sapiens OX=9606 GN=AP1G1 PE=1 SV=1 CANONICAL=O43747-1" }, "locus": { "chromosome": "16", "start_pos": 71789479, "end_pos": 71771160, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000563259.5", "url": "https://www.ensembl.org/id/ENST00000563259.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000456058.1", "url": "https://www.ensembl.org/id/ENSP00000456058.1" } ] } }, { "isoform_ac": "H3BRM7-1", "url": "", "sequence": { "sequence": "MPAPIRLRELIRTIRTARTQAEEREMIQKECAAIRSSFREEDNTYRCRNVAKLLYMHMLGYPAHFGQLECLKLIASQKFTDKRIGYLGAMLLLDERQDVHLLMTNCIKNDLNHSTQFVQGLALCTLGCMGSSEMCRDLA", "length": 139, "header": "tr|H3BRM7-1|AP1G1_HUMAN Computationally mapped isoform of AP-1 complex subunit gamma-1 OS=Homo sapiens OX=9606 GN=AP1G1 PE=1 SV=8 CANONICAL=O43747-1" }, "locus": { "chromosome": "16", "start_pos": 71789479, "end_pos": 71773272, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000569185.5", "url": "https://www.ensembl.org/id/ENST00000569185.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000456316.1", "url": "https://www.ensembl.org/id/ENSP00000456316.1" } ] } }, { "isoform_ac": "H3BS13-1", "url": "", "sequence": { "sequence": "MPAPIRLRELIRTIRTARTQAEEREMIQKECAAIRSSFREEDNTYRCRNVAKLLYMHMLGYPAHFGQLECLKLIASQKFTDKRIG", "length": 85, "header": "tr|H3BS13-1|AP1G1_HUMAN Computationally mapped isoform of AP-1 complex subunit gamma-1 OS=Homo sapiens OX=9606 GN=AP1G1 PE=1 SV=1 CANONICAL=O43747-1" }, "locus": { "chromosome": "16", "start_pos": 71789479, "end_pos": 71774539, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000565412.5", "url": "https://www.ensembl.org/id/ENST00000565412.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000456493.1", "url": "https://www.ensembl.org/id/ENSP00000456493.1" } ] } }, { "isoform_ac": "H3BUN9-1", "url": "", "sequence": { "sequence": "MPAPIRLRELIRTIRTARTQAEEREMIQKECAAIRSSFREEDNTYRCRNVAKLLYMHMLGYPAHFGQLECLKLIASQKFTDKRIGYLGAMLLLDERQDVHLLMTNCIKNDLNHSTQFVQGLALCTLGCMGSSEMCRDLAGEVEKLLKTSNSYLRKKAALCAVHVIRKVPELMEMFLPATKNLLNEKNHGNVIWMTCLFMRHSSIFTVF", "length": 208, "header": "tr|H3BUN9-1|AP1G1_HUMAN Computationally mapped isoform of AP-1 complex subunit gamma-1 OS=Homo sapiens OX=9606 GN=AP1G1 PE=1 SV=1 CANONICAL=O43747-1" }, "locus": { "chromosome": "16", "start_pos": 71789479, "end_pos": 71765608, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000565009.5", "url": "https://www.ensembl.org/id/ENST00000565009.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000457726.1", "url": "https://www.ensembl.org/id/ENSP00000457726.1" } ] } }, { "isoform_ac": "H3BV30-1", "url": "", "sequence": { "sequence": "MPAPIRLRELIRTIRTARTQAEEREMIQKECAAIRSSFREEDNTYRCRNVAKLLYMHMLGYPAHFGQLECLKLIASQKFTDKRIGYLGAML", "length": 91, "header": "tr|H3BV30-1|AP1G1_HUMAN Computationally mapped isoform of AP-1 complex subunit gamma-1 OS=Homo sapiens OX=9606 GN=AP1G1 PE=1 SV=8 CANONICAL=O43747-1" }, "locus": { "chromosome": "16", "start_pos": 71789479, "end_pos": 71774521, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000567583.1", "url": "https://www.ensembl.org/id/ENST00000567583.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000457927.1", "url": "https://www.ensembl.org/id/ENSP00000457927.1" } ] } }, { "isoform_ac": "O43747-1", "url": "", "sequence": { "sequence": "MPAPIRLRELIRTIRTARTQAEEREMIQKECAAIRSSFREEDNTYRCRNVAKLLYMHMLGYPAHFGQLECLKLIASQKFTDKRIGYLGAMLLLDERQDVHLLMTNCIKNDLNHSTQFVQGLALCTLGCMGSSEMCRDLAGEVEKLLKTSNSYLRKKAALCAVHVIRKVPELMEMFLPATKNLLNEKNHGVLHTSVVLLTEMCERSPDMLAHFRKLVPQLVRILKNLIMSGYSPEHDVSGISDPFLQVRILRLLRILGRNDDDSSEAMNDILAQVATNTETSKNVGNAILYETVLTIMDIKSESGLRVLAINILGRFLLNNDKNIRYVALTSLLKTVQTDHNAVQRHRSTIVDCLKDLDVSIKRRAMELSFALVNGNNIRGMMKELLYFLDSCEPEFKADCASGIFLAAEKYAPSKRWHIDTIMRVLTTAGSYVRDDAVPNLIQLITNSVEMHAYTVQRLYKAILGDYSQQPLVQVAAWCIGEYGDLLVSGQCEEEEPIQVTEDEVLDILESVLISNMSTSVTRGYALTAIMKLSTRFTCTVNRIKKVVSIYGSSIDVELQQRAVEYNALFKKYDHMRSALLERMPVMEKVTTNGPTEIVQTNGETEPAPLETKPPPSGPQPTSQANDLLDLLGGNDITPVIPTAPTSKPSSAGGELLDLLGDINLTGAPAAAPAPASVPQISQPPFLLDGLSSQPLFNDIAAGIPSITAYSKNGLKIEFTFERSNTNPSVTVITIQASNSTELDMTDFVFQAAVPKTFQLQLLSPSSSIVPAFNTGTITQVIKVLNPQKQQLRMRIKLTYNHKGSAMQDLAEVNNFPPQSWQ", "length": 822, "header": "sp|O43747-1|AP1G1_HUMAN Isoform 1 of AP-1 complex subunit gamma-1 OS=Homo sapiens OX=9606 GN=AP1G1 PE=1 SV=5 CANONICAL=O43747-1" }, "locus": { "chromosome": "16", "start_pos": 71789479, "end_pos": 71733061, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000299980.9", "url": "https://www.ensembl.org/id/ENST00000299980.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000299980.4", "url": "https://www.ensembl.org/id/ENSP00000299980.4" } ] } }, { "isoform_ac": "O43747-2", "url": "", "sequence": { "sequence": "MPAPIRLRELIRTIRTARTQAEEREMIQKECAAIRSSFREEDNTYRCRNVAKLLYMHMLGYPAHFGQLECLKLIASQKFTDKRIGYLGAMLLLDERQDVHLLMTNCIKNDLNHSTQFVQGLALCTLGCMGSSEMCRDLAGEVEKLLKTSNSYLRKKAALCAVHVIRKVPELMEMFLPATKNLLNEKNHGVLHTSVVLLTEMCERSPDMLAHFRKNEKLVPQLVRILKNLIMSGYSPEHDVSGISDPFLQVRILRLLRILGRNDDDSSEAMNDILAQVATNTETSKNVGNAILYETVLTIMDIKSESGLRVLAINILGRFLLNNDKNIRYVALTSLLKTVQTDHNAVQRHRSTIVDCLKDLDVSIKRRAMELSFALVNGNNIRGMMKELLYFLDSCEPEFKADCASGIFLAAEKYAPSKRWHIDTIMRVLTTAGSYVRDDAVPNLIQLITNSVEMHAYTVQRLYKAILGDYSQQPLVQVAAWCIGEYGDLLVSGQCEEEEPIQVTEDEVLDILESVLISNMSTSVTRGYALTAIMKLSTRFTCTVNRIKKVVSIYGSSIDVELQQRAVEYNALFKKYDHMRSALLERMPVMEKVTTNGPTEIVQTNGETEPAPLETKPPPSGPQPTSQANDLLDLLGGNDITPVIPTAPTSKPSSAGGELLDLLGDINLTGAPAAAPAPASVPQISQPPFLLDGLSSQPLFNDIAAGIPSITAYSKNGLKIEFTFERSNTNPSVTVITIQASNSTELDMTDFVFQAAVPKTFQLQLLSPSSSIVPAFNTGTITQVIKVLNPQKQQLRMRIKLTYNHKGSAMQDLAEVNNFPPQSWQ", "length": 825, "header": "sp|O43747-2|AP1G1_HUMAN Isoform 2 of AP-1 complex subunit gamma-1 OS=Homo sapiens OX=9606 GN=AP1G1 PE=1 SV=5 CANONICAL=O43747-1" }, "locus": { "chromosome": "16", "start_pos": 71789479, "end_pos": 71733061, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000393512.7", "url": "https://www.ensembl.org/id/ENST00000393512.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000377148.3", "url": "https://www.ensembl.org/id/ENSP00000377148.3" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "O43747", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43747" }, { "id": "32119511", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32119511" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" } ] } ], "phosphorylation": [ { "start_pos": 330, "end_pos": 330, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O43747", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43747" }, { "database": "PubMed", "id": "33936100", "url": "" } ], "site_lbl": "Thr330" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Opposing motor activities of dynein and kinesin determine retention and transport of MHC class II-containing compartments.", "journal": "Journal of cell science", "date": "1999", "authors": "Wubbolts R, Fernandez-Borja M, Jordens I, Reits E, Dusseljee S, Echeverri C, Vallee RB, Neefjes J", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "10036229", "url": "https://glygen.org/publication/PubMed/10036229" } ] }, { "title": "Identification of destabilizing residues in HLA class II-selected bacteriophage display libraries edited by HLA-DM.", "journal": "European journal of immunology", "date": "1999", "authors": "Raddrizzani L, Bono E, Vogt AB, Kropshofer H, Gallazzi F, Sturniolo T, Hammerling GJ, Sinigaglia F, Hammer J", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "10064083", "url": "https://glygen.org/publication/PubMed/10064083" } ] }, { "title": "Cathepsin S required for normal MHC class II peptide loading and germinal center development.", "journal": "Immunity", "date": "1999", "authors": "Shi GP, Villadangos JA, Dranoff G, Small C, Gu L, Haley KJ, Riese R, Ploegh HL, Chapman HA", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "10072072", "url": "https://glygen.org/publication/PubMed/10072072" } ] }, { "title": "Functional organization of clathrin in coats: combining electron cryomicroscopy and X-ray crystallography.", "journal": "Molecular cell", "date": "1999", "authors": "Musacchio A, Smith CJ, Roseman AM, Harrison SC, Kirchhausen T, Pearse BM", "evidence": [ { "database": "Reactome", "id": "R-HSA-432720", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432720" } ], "reference": [ { "type": "PubMed", "id": "10394364", "url": "https://glygen.org/publication/PubMed/10394364" } ] }, { "title": "Characterization of a fourth adaptor-related protein complex.", "journal": "Molecular biology of the cell", "date": "1999", "authors": "Hirst J, Bright NA, Rous B, Robinson MS", "evidence": [ { "database": "Reactome", "id": "R-HSA-432720", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432720" } ], "reference": [ { "type": "PubMed", "id": "10436028", "url": "https://glygen.org/publication/PubMed/10436028" } ] }, { "title": "Direct transport of newly synthesized HLA-DR from the trans-Golgi network to major histocompatibility complex class II containing compartments (MIICS) demonstrated using a novel tyrosine-sulfated chimera.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Davidson HW", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "10480952", "url": "https://glygen.org/publication/PubMed/10480952" } ] }, { "title": "Cell surface expression and metabolism of major histocompatibility complex class II invariant chain (CD74) by diverse cell lines.", "journal": "Immunology", "date": "1999", "authors": "Ong GL, Goldenberg DM, Hansen HJ, Mattes MJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "10540230", "url": "https://glygen.org/publication/PubMed/10540230" } ] }, { "title": "The leucine-based sorting motifs in the cytoplasmic domain of the invariant chain are recognized by the clathrin adaptors AP1 and AP2 and their medium chains.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Hofmann MW, Honing S, Rodionov D, Dobberstein B, von Figura K, Bakke O", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "10593899", "url": "https://glygen.org/publication/PubMed/10593899" } ] }, { "title": "Proteases involved in MHC class II antigen presentation.", "journal": "Immunological reviews", "date": "1999", "authors": "Villadangos JA, Bryant RA, Deussing J, Driessen C, Lennon-Dumenil AM, Riese RJ, Roth W, Saftig P, Shi GP, Chapman HA, Peters C, Ploegh HL", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "10631941", "url": "https://glygen.org/publication/PubMed/10631941" } ] }, { "title": "The impact of the non-classical MHC proteins HLA-DM and HLA-DO on loading of MHC class II molecules.", "journal": "Immunological reviews", "date": "1999", "authors": "Kropshofer H, Hammerling GJ, Vogt AB", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "10631952", "url": "https://glygen.org/publication/PubMed/10631952" } ] }, { "title": "Enzymatic reduction of disulfide bonds in lysosomes: characterization of a gamma-interferon-inducible lysosomal thiol reductase (GILT).", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2000", "authors": "Arunachalam B, Phan UT, Geuze HJ, Cresswell P", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "10639150", "url": "https://glygen.org/publication/PubMed/10639150" } ] }, { "title": "Role for cathepsin F in invariant chain processing and major histocompatibility complex class II peptide loading by macrophages.", "journal": "The Journal of experimental medicine", "date": "2000", "authors": "Shi GP, Bryant RA, Riese R, Verhelst S, Driessen C, Li Z, Bromme D, Ploegh HL, Chapman HA", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "10748235", "url": "https://glygen.org/publication/PubMed/10748235" } ] }, { "title": "Lysosomal cathepsin B plays an important role in antigen processing, while cathepsin D is involved in degradation of the invariant chain inovalbumin-immunized mice.", "journal": "Immunology", "date": "2000", "authors": "Zhang T, Maekawa Y, Hanba J, Dainichi T, Nashed BF, Hisaeda H, Sakai T, Asao T, Himeno K, Good RA, Katunuma N", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "10809954", "url": "https://glygen.org/publication/PubMed/10809954" } ] }, { "title": "Signal-binding specificity of the mu4 subunit of the adaptor protein complex AP-4.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Aguilar RC, Boehm M, Gorshkova I, Crouch RJ, Tomita K, Saito T, Ohno H, Bonifacino JS", "evidence": [ { "database": "Reactome", "id": "R-HSA-432720", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432720" } ], "reference": [ { "type": "PubMed", "id": "11139587", "url": "https://glygen.org/publication/PubMed/11139587" } ] }, { "title": "Hepatitis B virus large envelope protein interacts with gamma2-adaptin, a clathrin adaptor-related protein.", "journal": "Journal of virology", "date": "2001", "authors": "Hartmann-Stuhler C, Prange R", "evidence": [ { "database": "Reactome", "id": "R-HSA-432720", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432720" } ], "reference": [ { "type": "PubMed", "id": "11333915", "url": "https://glygen.org/publication/PubMed/11333915" } ] }, { "title": "Trans-Golgi network sorting.", "journal": "Cellular and molecular life sciences : CMLS", "date": "2001", "authors": "Gu F, Crump CM, Thomas G", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "11529500", "url": "https://glygen.org/publication/PubMed/11529500" } ] }, { "title": "Identification and characterization of a novel Golgi protein, GCP60, that interacts with the integral membrane protein giantin.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Sohda M, Misumi Y, Yamamoto A, Yano A, Nakamura N, Ikehara Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-432722", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432722" } ], "reference": [ { "type": "PubMed", "id": "11590181", "url": "https://glygen.org/publication/PubMed/11590181" } ] }, { "title": "Generation of high curvature membranes mediated by direct endophilin bilayer interactions.", "journal": "The Journal of cell biology", "date": "2001", "authors": "Farsad K, Ringstad N, Takei K, Floyd SR, Rose K, De Camilli P", "evidence": [ { "database": "Reactome", "id": "R-HSA-432720", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432720" } ], "reference": [ { "type": "PubMed", "id": "11604418", "url": "https://glygen.org/publication/PubMed/11604418" } ] }, { "title": "Presentation of antigens by MHC class II molecules: getting the most out of them.", "journal": "Molecular immunology", "date": "2001", "authors": "Villadangos JA", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "11684289", "url": "https://glygen.org/publication/PubMed/11684289" } ] }, { "title": "GGAs: roles of the different domains and comparison with AP-1 and clathrin.", "journal": "Molecular biology of the cell", "date": "2001", "authors": "Hirst J, Lindsay MR, Robinson MS", "evidence": [ { "database": "Reactome", "id": "R-HSA-432720", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432720" } ], "reference": [ { "type": "PubMed", "id": "11694590", "url": "https://glygen.org/publication/PubMed/11694590" } ] }, { "title": "Trafficking of MHC class II molecules in the late secretory pathway.", "journal": "Current opinion in immunology", "date": "2002", "authors": "Hiltbold EM, Roche PA", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "11790530", "url": "https://glygen.org/publication/PubMed/11790530" } ] }, { "title": "Specific role for cathepsin S in the generation of antigenic peptides in vivo.", "journal": "European journal of immunology", "date": "2002", "authors": "Pluger EB, Boes M, Alfonso C, Schroter CJ, Kalbacher H, Ploegh HL, Driessen C", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "11813165", "url": "https://glygen.org/publication/PubMed/11813165" } ] }, { "title": "Multiple roles of the invariant chain in MHC class II function.", "journal": "Biochimica et biophysica acta", "date": "2002", "authors": "Stumptner-Cuvelette P, Benaroch P", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "11853874", "url": "https://glygen.org/publication/PubMed/11853874" } ] }, { "title": "Regulated transport of the glucose transporter GLUT4.", "journal": "Nature reviews. Molecular cell biology", "date": "2002", "authors": "Bryant NJ, Govers R, James DE", "evidence": [ { "database": "Reactome", "id": "R-HSA-432720", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432720" } ], "reference": [ { "type": "PubMed", "id": "11994746", "url": "https://glygen.org/publication/PubMed/11994746" } ] }, { "title": "Structural basis for the accessory protein recruitment by the gamma-adaptin ear domain.", "journal": "Nat. Struct. Biol.", "date": "2002", "authors": "Nogi T, Shiba Y, Kawasaki M, Shiba T, Matsugaki N, Igarashi N, Suzuki M, Kato R, Takatsu H, Nakayama K, Wakatsuki S", "evidence": [ { "database": "UniProtKB", "id": "O43747", "url": "https://www.uniprot.org/uniprot/O43747" } ], "reference": [ { "type": "PubMed", "id": "12042876", "url": "https://glygen.org/publication/PubMed/12042876" } ] }, { "title": "Proteolysis and antigen presentation by MHC class II molecules.", "journal": "Advances in immunology", "date": "2002", "authors": "Bryant PW, Lennon-Dumenil AM, Fiebiger E, Lagaudriere-Gesbert C, Ploegh HL", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "12078484", "url": "https://glygen.org/publication/PubMed/12078484" } ] }, { "title": "Dendritic cell maturation triggers retrograde MHC class II transport from lysosomes to the plasma membrane.", "journal": "Nature", "date": "2002", "authors": "Chow A, Toomre D, Garrett W, Mellman I", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "12198549", "url": "https://glygen.org/publication/PubMed/12198549" } ] }, { "title": "Antigen processing and presentation in human muscle: cathepsin S is critical for MHC class II expression and upregulated in inflammatory myopathies.", "journal": "Journal of neuroimmunology", "date": "2003", "authors": "Wiendl H, Lautwein A, Mitsdorffer M, Krause S, Erfurth S, Wienhold W, Morgalla M, Weber E, Overkleeft HS, Lochmuller H, Melms A, Tolosa E, Driessen C", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "12742663", "url": "https://glygen.org/publication/PubMed/12742663" } ] }, { "title": "Human cathepsin S, but not cathepsin L, degrades efficiently MHC class II-associated invariant chain in nonprofessional APCs.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2003", "authors": "Bania J, Gatti E, Lelouard H, David A, Cappello F, Weber E, Camosseto V, Pierre P", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "12748383", "url": "https://glygen.org/publication/PubMed/12748383" } ] }, { "title": "Rabaptin-5alpha/rabaptin-4 serves as a linker between rab4 and gamma(1)-adaptin in membrane recycling from endosomes.", "journal": "EMBO J.", "date": "2003", "authors": "Deneka Magdalena, Neeft Maaike, Popa Ioana, van Oort Masja, Sprong Hein, Oorschot Viola, Klumperman Judith, Schu Peter, van der Sluijs Peter", "evidence": [ { "database": "UniProtKB", "id": "O43747", "url": "https://www.uniprot.org/uniprot/O43747" } ], "reference": [ { "type": "PubMed", "id": "12773381", "url": "https://glygen.org/publication/PubMed/12773381" } ] }, { "title": "Definition of the consensus motif recognized by gamma-adaptin ear domains.", "journal": "J. Biol. Chem.", "date": "2004", "authors": "Mattera R, Ritter B, Sidhu SS, McPherson PS, Bonifacino JS", "evidence": [ { "database": "UniProtKB", "id": "O43747", "url": "https://www.uniprot.org/uniprot/O43747" } ], "reference": [ { "type": "PubMed", "id": "14665628", "url": "https://glygen.org/publication/PubMed/14665628" } ] }, { "title": "Targeting of membrane proteins to endosomes and lysosomes.", "journal": "Trends in cell biology", "date": "1994", "authors": "Sandoval IV, Bakke O", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "14731593", "url": "https://glygen.org/publication/PubMed/14731593" } ] }, { "title": "Identification of snapin and three novel proteins (BLOS1, BLOS2, and BLOS3/reduced pigmentation) as subunits of biogenesis of lysosome-related organelles complex-1 (BLOC-1).", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Starcevic M, Dell'Angelica EC", "evidence": [ { "database": "Reactome", "id": "R-HSA-432722", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432722" } ], "reference": [ { "type": "PubMed", "id": "15102850", "url": "https://glygen.org/publication/PubMed/15102850" } ] }, { "title": "HIV-1 Nef disrupts MHC-I trafficking by recruiting AP-1 to the MHC-I cytoplasmic tail.", "journal": "The Journal of cell biology", "date": "2004", "authors": "Roeth JF, Williams M, Kasper MR, Filzen TM, Collins KL", "evidence": [ { "database": "Reactome", "id": "R-HSA-164940", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-164940" } ], "reference": [ { "type": "PubMed", "id": "15569716", "url": "https://glygen.org/publication/PubMed/15569716" } ] }, { "title": "AP-1 and AP-3 facilitate lysosomal targeting of Batten disease protein CLN3 via its dileucine motif.", "journal": "J. Biol. Chem.", "date": "2005", "authors": "Kyttala A, Yliannala K, Schu P, Jalanko A, Luzio JP", "evidence": [ { "database": "UniProtKB", "id": "O43747", "url": "https://www.uniprot.org/uniprot/O43747" } ], "reference": [ { "type": "PubMed", "id": "15598649", "url": "https://glygen.org/publication/PubMed/15598649" } ] }, { "title": "AP2 clathrin adaptor complex, but not AP1, controls the access of the major histocompatibility complex (MHC) class II to endosomes.", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Dugast M, Toussaint H, Dousset C, Benaroch P", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "15749704", "url": "https://glygen.org/publication/PubMed/15749704" } ] }, { "title": "The aftiphilin/p200/gamma-synergin complex.", "journal": "Molecular biology of the cell", "date": "2005", "authors": "Hirst J, Borner GH, Harbour M, Robinson MS", "evidence": [ { "database": "UniProtKB", "id": "O43747", "url": "https://www.uniprot.org/uniprot/O43747" } ], "reference": [ { "type": "PubMed", "id": "15758025", "url": "https://glygen.org/publication/PubMed/15758025" } ] }, { "title": "Gamma-BAR, a novel AP-1-interacting protein involved in post-Golgi trafficking.", "journal": "EMBO J.", "date": "2005", "authors": "Neubrand VE, Will RD, Mobius W, Poustka A, Wiemann S, Schu P, Dotti CG, Pepperkok R, Simpson JC", "evidence": [ { "database": "UniProtKB", "id": "O43747", "url": "https://www.uniprot.org/uniprot/O43747" } ], "reference": [ { "type": "PubMed", "id": "15775984", "url": "https://glygen.org/publication/PubMed/15775984" } ] }, { "title": "Involvement of clathrin and AP-2 in the trafficking of MHC class II molecules to antigen-processing compartments.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2005", "authors": "McCormick PJ, Martina JA, Bonifacino JS", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "15911768", "url": "https://glygen.org/publication/PubMed/15911768" } ] }, { "title": "Depletion of GAK/auxilin 2 inhibits receptor-mediated endocytosis and recruitment of both clathrin and clathrin adaptors.", "journal": "Journal of cell science", "date": "2005", "authors": "Lee DW, Zhao X, Zhang F, Eisenberg E, Greene LE", "evidence": [ { "database": "Reactome", "id": "R-HSA-432720", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432720" } ], "reference": [ { "type": "PubMed", "id": "16155256", "url": "https://glygen.org/publication/PubMed/16155256" } ] }, { "title": "Asparaginyl endopeptidase: case history of a class II MHC compartment protease.", "journal": "Immunological reviews", "date": "2005", "authors": "Watts C, Matthews SP, Mazzeo D, Manoury B, Moss CX", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "16181339", "url": "https://glygen.org/publication/PubMed/16181339" } ] }, { "title": "Assembly of major histocompatibility complex class II subunits with invariant chain.", "journal": "FEBS letters", "date": "2005", "authors": "Neumann J, Koch N", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "16242130", "url": "https://glygen.org/publication/PubMed/16242130" } ] }, { "title": "Invariant chain transmembrane domain trimerization: a step in MHC class II assembly.", "journal": "Biochemistry", "date": "2006", "authors": "Dixon AM, Stanley BJ, Matthews EE, Dawson JP, Engelman DM", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "16618111", "url": "https://glygen.org/publication/PubMed/16618111" } ] }, { "title": "The formation of TGN-to-plasma-membrane transport carriers.", "journal": "Annual review of cell and developmental biology", "date": "2006", "authors": "Bard F, Malhotra V", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "16824007", "url": "https://glygen.org/publication/PubMed/16824007" } ] }, { "title": "Gamma-adaptin, a novel ubiquitin-interacting adaptor, and Nedd4 ubiquitin ligase control hepatitis B virus maturation.", "journal": "The Journal of biological chemistry", "date": "2006", "authors": "Rost M, Mann S, Lambert C, Doring T, Thome N, Prange R", "evidence": [ { "database": "Reactome", "id": "R-HSA-432720", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432720" } ], "reference": [ { "type": "PubMed", "id": "16867982", "url": "https://glygen.org/publication/PubMed/16867982" } ] }, { "title": "Comparative proteomics of clathrin-coated vesicles.", "journal": "The Journal of cell biology", "date": "2006", "authors": "Borner GH, Harbour M, Hester S, Lilley KS, Robinson MS", "evidence": [ { "database": "Reactome", "id": "R-HSA-432720", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432720" } ], "reference": [ { "type": "PubMed", "id": "17116749", "url": "https://glygen.org/publication/PubMed/17116749" } ] }, { "title": "Functional requirements for the lysosomal thiol reductase GILT in MHC class II-restricted antigen processing.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2006", "authors": "Hastings KT, Lackman RL, Cresswell P", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "17142755", "url": "https://glygen.org/publication/PubMed/17142755" } ] }, { "title": "Activation of endosomal dynein motors by stepwise assembly of Rab7-RILP-p150Glued, ORP1L, and the receptor betalll spectrin.", "journal": "The Journal of cell biology", "date": "2007", "authors": "Johansson M, Rocha N, Zwart W, Jordens I, Janssen L, Kuijl C, Olkkonen VM, Neefjes J", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "17283181", "url": "https://glygen.org/publication/PubMed/17283181" } ] }, { "title": "MHC class II molecules on the move for successful antigen presentation.", "journal": "The EMBO journal", "date": "2008", "authors": "Rocha N, Neefjes J", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "18046453", "url": "https://glygen.org/publication/PubMed/18046453" } ] }, { "title": "Lysosomal cysteine and aspartic proteases are heterogeneously expressed and act redundantly to initiate human invariant chain degradation.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2008", "authors": "Costantino CM, Hang HC, Kent SC, Hafler DA, Ploegh HL", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "18292509", "url": "https://glygen.org/publication/PubMed/18292509" } ] }, { "title": "Mutation in the AP4M1 gene provides a model for neuroaxonal injury in cerebral palsy.", "journal": "American journal of human genetics", "date": "2009", "authors": "Verkerk AJ, Schot R, Dumee B, Schellekens K, Swagemakers S, Bertoli-Avella AM, Lequin MH, Dudink J, Govaert P, van Zwol AL, Hirst J, Wessels MW, Catsman-Berrevoets C, Verheijen FW, de Graaff E, de Coo IF, Kros JM, Willemsen R, Willems PJ, van der Spek PJ, Mancini GM", "evidence": [ { "database": "Reactome", "id": "R-HSA-432720", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432720" } ], "reference": [ { "type": "PubMed", "id": "19559397", "url": "https://glygen.org/publication/PubMed/19559397" } ] }, { "title": "Formation of a nine-subunit complex by HLA class II glycoproteins and the invariant chain.", "journal": "Nature", "date": "1991", "authors": "Roche PA, Marks MS, Cresswell P", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "1956401", "url": "https://glygen.org/publication/PubMed/1956401" } ] }, { "title": "Cholesterol sensor ORP1L contacts the ER protein VAP to control Rab7-RILP-p150 Glued and late endosome positioning.", "journal": "The Journal of cell biology", "date": "2009", "authors": "Rocha N, Kuijl C, van der Kant R, Janssen L, Houben D, Janssen H, Zwart W, Neefjes J", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "19564404", "url": "https://glygen.org/publication/PubMed/19564404" } ] }, { "title": "The clavesin family, neuron-specific lipid- and clathrin-binding Sec14 proteins regulating lysosomal morphology.", "journal": "The Journal of biological chemistry", "date": "2009", "authors": "Katoh Y, Ritter B, Gaffry T, Blondeau F, Honing S, McPherson PS", "evidence": [ { "database": "Reactome", "id": "R-HSA-432720", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432720" } ], "reference": [ { "type": "PubMed", "id": "19651769", "url": "https://glygen.org/publication/PubMed/19651769" } ] }, { "title": "Sorting of the Alzheimer's disease amyloid precursor protein mediated by the AP-4 complex.", "journal": "Developmental cell", "date": "2010", "authors": "Burgos PV, Mardones GA, Rojas AL, daSilva LL, Prabhu Y, Hurley JH, Bonifacino JS", "evidence": [ { "database": "Reactome", "id": "R-HSA-432720", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432720" } ], "reference": [ { "type": "PubMed", "id": "20230749", "url": "https://glygen.org/publication/PubMed/20230749" } ] }, { "title": "gamma2-Adaptin is functioning in the late endosomal sorting pathway and interacts with ESCRT-I and -III subunits.", "journal": "Biochimica et biophysica acta", "date": "2010", "authors": "Doring T, Gotthardt K, Stieler J, Prange R", "evidence": [ { "database": "Reactome", "id": "R-HSA-432720", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432720" } ], "reference": [ { "type": "PubMed", "id": "20708039", "url": "https://glygen.org/publication/PubMed/20708039" } ] }, { "title": "Invariant chain increases the half-life of MHC II by delaying endosomal maturation.", "journal": "Immunology and cell biology", "date": "2011", "authors": "Landsverk OJ, Barois N, Gregers TF, Bakke O", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "21116285", "url": "https://glygen.org/publication/PubMed/21116285" } ] }, { "title": "MHC class II-associated invariant chain contains a sorting signal for endosomal compartments.", "journal": "Cell", "date": "1990", "authors": "Bakke O, Dobberstein B", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "2121367", "url": "https://glygen.org/publication/PubMed/2121367" } ] }, { "title": "MHC class II engagement by its ligand LAG-3 (CD223) contributes to melanoma resistance to apoptosis.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2011", "authors": "Hemon P, Jean-Louis F, Ramgolam K, Brignone C, Viguier M, Bachelez H, Triebel F, Charron D, Aoudjit F, Al-Daccak R, Michel L", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "21441454", "url": "https://glygen.org/publication/PubMed/21441454" } ] }, { "title": "Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature.", "journal": "American journal of human genetics", "date": "2011", "authors": "Abou Jamra R, Philippe O, Raas-Rothschild A, Eck SH, Graf E, Buchert R, Borck G, Ekici A, Brockschmidt FF, Nothen MM, Munnich A, Strom TM, Reis A, Colleaux L", "evidence": [ { "database": "Reactome", "id": "R-HSA-432720", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432720" } ], "reference": [ { "type": "PubMed", "id": "21620353", "url": "https://glygen.org/publication/PubMed/21620353" } ] }, { "title": "Invariant chain association with HLA-DR molecules inhibits immunogenic peptide binding.", "journal": "Nature", "date": "1990", "authors": "Roche PA, Cresswell P", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "2190094", "url": "https://glygen.org/publication/PubMed/2190094" } ] }, { "title": "Invariant chain trimers are sequestered in the rough endoplasmic reticulum in the absence of association with HLA class II antigens.", "journal": "The Journal of cell biology", "date": "1990", "authors": "Marks MS, Blum JS, Cresswell P", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "2391366", "url": "https://glygen.org/publication/PubMed/2391366" } ] }, { "title": "CD4 downregulation by the HIV-1 protein Nef reveals distinct roles for the gamma1 and gamma2 subunits of the AP-1 complex in protein trafficking.", "journal": "Journal of cell science", "date": "2017", "authors": "Tavares LA, da Silva EM, da Silva-Januario ME, Januario YC, de Cavalho JV, Czernisz ES, Mardones GA, daSilva LL", "evidence": [ { "database": "RefSeq", "id": "NP_001025178", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001025178" } ], "reference": [ { "type": "PubMed", "id": "27909244", "url": "https://glygen.org/publication/PubMed/27909244" } ] }, { "title": "AP1G1 is involved in cetuximab-mediated downregulation of ASCT2-EGFR complex and sensitization of human head and neck squamous cell carcinoma cells to ROS-induced apoptosis.", "journal": "Cancer letters", "date": "2017", "authors": "Tao X, Lu Y, Qiu S, Wang Y, Qin J, Fan Z", "evidence": [ { "database": "RefSeq", "id": "NP_001025178", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001025178" } ], "reference": [ { "type": "PubMed", "id": "28823958", "url": "https://glygen.org/publication/PubMed/28823958" } ] }, { "title": "The WDR11 complex facilitates the tethering of AP-1-derived vesicles.", "journal": "Nature communications", "date": "2018", "authors": "Navarro Negredo P, Edgar JR, Manna PT, Antrobus R, Robinson MS", "evidence": [ { "database": "RefSeq", "id": "NP_001025178", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001025178" } ], "reference": [ { "type": "PubMed", "id": "29426865", "url": "https://glygen.org/publication/PubMed/29426865" } ] }, { "title": "Engineering a Proximity-Directed O-GlcNAc Transferase for Selective Protein O-GlcNAcylation in Cells.", "journal": "ACS chemical biology", "date": "2020", "authors": "Ramirez DH, Aonbangkhen C, Wu HY, Naftaly JA, Tang S, O'Meara TR, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "O43747", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43747" } ], "reference": [ { "type": "PubMed", "id": "32119511", "url": "https://glygen.org/publication/PubMed/32119511" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "O43747", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43747" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy.", "journal": "American journal of human genetics", "date": "2021", "authors": "Usmani MA, Ahmed ZM, Magini P, Pienkowski VM, Rasmussen KJ, Hernan R, Rasheed F, Hussain M, Shahzad M, Lanpher BC, Niu Z, Lim FY, Pippucci T, Ploski R, Kraus V, Matuszewska K, Palombo F, Kianmahd J, Martinez-Agosto JA, Lee H, Colao E, Motazacker MM, Brigatti KW, Puffenberger EG, Riazuddin SA, Gonzaga-Jauregui C, Chung WK, Wagner M, Schultz MJ, Seri M, Kievit AJA, Perrotti N, Wassink-Ruiter JSK, van Bokhoven H, Riazuddin S, Riazuddin S", "evidence": [ { "database": "UniProtKB", "id": "O43747", "url": "https://www.uniprot.org/uniprot/O43747" }, { "database": "RefSeq", "id": "NP_001025178", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001025178" } ], "reference": [ { "type": "PubMed", "id": "34102099", "url": "https://glygen.org/publication/PubMed/34102099" } ] }, { "title": "Truncation of the TPR domain of OGT alters substrate and glycosite selection.", "journal": "Analytical and bioanalytical chemistry", "date": "2021", "authors": "Ramirez DH, Yang B, D'Souza AK, Shen D, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "O43747", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43747" } ], "reference": [ { "type": "PubMed", "id": "34725712", "url": "https://glygen.org/publication/PubMed/34725712" } ] }, { "title": "Self-release of CLIP in peptide loading of HLA-DR molecules.", "journal": "Science (New York, N.Y.)", "date": "1995", "authors": "Kropshofer H, Vogt AB, Stern LJ, Hammerling GJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "7481823", "url": "https://glygen.org/publication/PubMed/7481823" } ] }, { "title": "Structure-activity relationship of the leucine-based sorting motifs in the cytosolic tail of the major histocompatibility complex-associated invariant chain.", "journal": "The Journal of biological chemistry", "date": "1995", "authors": "Motta A, Bremnes B, Morelli MA, Frank RW, Saviano G, Bakke O", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "7592972", "url": "https://glygen.org/publication/PubMed/7592972" } ] }, { "title": "A role for acidic residues in di-leucine motif-based targeting to the endocytic pathway.", "journal": "The Journal of biological chemistry", "date": "1995", "authors": "Pond L, Kuhn LA, Teyton L, Schutze MP, Tainer JA, Jackson MR, Peterson PA", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "7650016", "url": "https://glygen.org/publication/PubMed/7650016" } ] }, { "title": "Structural features of the invariant chain fragment CLIP controlling rapid release from HLA-DR molecules and inhibition of peptide binding.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1995", "authors": "Kropshofer H, Vogt AB, Hammerling GJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "7667286", "url": "https://glygen.org/publication/PubMed/7667286" } ] }, { "title": "Selective release of some invariant chain-derived peptides from HLA-DR1 molecules at endosomal pH.", "journal": "The Journal of experimental medicine", "date": "1994", "authors": "Urban RG, Chicz RM, Strominger JL", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "8046351", "url": "https://glygen.org/publication/PubMed/8046351" } ] }, { "title": "Endosomal aspartic proteinases are required for invariant-chain processing.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1994", "authors": "Maric MA, Taylor MD, Blum JS", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "8134367", "url": "https://glygen.org/publication/PubMed/8134367" } ] }, { "title": "Crystal structure of the human class II MHC protein HLA-DR1 complexed with an influenza virus peptide.", "journal": "Nature", "date": "1994", "authors": "Stern LJ, Brown JH, Jardetzky TS, Gorga JC, Urban RG, Strominger JL, Wiley DC", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "8145819", "url": "https://glygen.org/publication/PubMed/8145819" } ] }, { "title": "Class II histocompatibility molecules associate with calnexin during assembly in the endoplasmic reticulum.", "journal": "International immunology", "date": "1994", "authors": "Schreiber KL, Bell MP, Huntoon CJ, Rajagopalan S, Brenner MB, McKean DJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "8148318", "url": "https://glygen.org/publication/PubMed/8148318" } ] }, { "title": "A role for calnexin (IP90) in the assembly of class II MHC molecules.", "journal": "The EMBO journal", "date": "1994", "authors": "Anderson KS, Cresswell P", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "8313912", "url": "https://glygen.org/publication/PubMed/8313912" } ] }, { "title": "Alteration of clathrin light chain expression by transfection and gene disruption.", "journal": "Molecular biology of the cell", "date": "1993", "authors": "Acton SL, Wong DH, Parham P, Brodsky FM, Jackson AP", "evidence": [ { "database": "Reactome", "id": "R-HSA-432720", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432720" } ], "reference": [ { "type": "PubMed", "id": "8374173", "url": "https://glygen.org/publication/PubMed/8374173" } ] }, { "title": "Cell surface HLA-DR-invariant chain complexes are targeted to endosomes by rapid internalization.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1993", "authors": "Roche PA, Teletski CL, Stang E, Bakke O, Long EO", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "8397411", "url": "https://glygen.org/publication/PubMed/8397411" } ] }, { "title": "The segment of invariant chain that is critical for association with major histocompatibility complex class II molecules contains the sequence of a peptide eluted from class II polypeptides.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1993", "authors": "Freisewinkel IM, Schenck K, Koch N", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "8415765", "url": "https://glygen.org/publication/PubMed/8415765" } ] }, { "title": "Role of auxilin in uncoating clathrin-coated vesicles.", "journal": "Nature", "date": "1995", "authors": "Ungewickell E, Ungewickell H, Holstein SE, Lindner R, Prasad K, Barouch W, Martin B, Greene LE, Eisenberg E", "evidence": [ { "database": "Reactome", "id": "R-HSA-432720", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432720" } ], "reference": [ { "type": "PubMed", "id": "8524399", "url": "https://glygen.org/publication/PubMed/8524399" } ] }, { "title": "B lymphocytes secrete antigen-presenting vesicles.", "journal": "The Journal of experimental medicine", "date": "1996", "authors": "Raposo G, Nijman HW, Stoorvogel W, Liejendekker R, Harding CV, Melief CJ, Geuze HJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "8642258", "url": "https://glygen.org/publication/PubMed/8642258" } ] }, { "title": "Dynamin II binds to the trans-Golgi network.", "journal": "Biochemical and biophysical research communications", "date": "1996", "authors": "Maier O, Knoblich M, Westermann P", "evidence": [ { "database": "Reactome", "id": "R-HSA-432720", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432720" } ], "reference": [ { "type": "PubMed", "id": "8670264", "url": "https://glygen.org/publication/PubMed/8670264" } ] }, { "title": "Potential sites for processing of the human invariant chain by cathepsins D and E.", "journal": "Biochemical and biophysical research communications", "date": "1996", "authors": "Kageyama T, Yonezawa S, Ichinose M, Miki K, Moriyama A", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "8687433", "url": "https://glygen.org/publication/PubMed/8687433" } ] }, { "title": "Enhanced dissociation of HLA-DR-bound peptides in the presence of HLA-DM.", "journal": "Science (New York, N.Y.)", "date": "1996", "authors": "Weber DA, Evavold BD, Jensen PE", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "8849454", "url": "https://glygen.org/publication/PubMed/8849454" } ] }, { "title": "Direct vesicular transport of MHC class II molecules from lysosomal structures to the cell surface.", "journal": "The Journal of cell biology", "date": "1996", "authors": "Wubbolts R, Fernandez-Borja M, Oomen L, Verwoerd D, Janssen H, Calafat J, Tulp A, Dusseljee S, Neefjes J", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "8909537", "url": "https://glygen.org/publication/PubMed/8909537" } ] }, { "title": "Expression of major histocompatibility complex class II molecules in HeLa cells promotes the recruitment of AP-1 Golgi-specific assembly proteins on Golgi membranes.", "journal": "The Journal of biological chemistry", "date": "1996", "authors": "Salamero J, Le Borgne R, Saudrais C, Goud B, Hoflack B", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "8939989", "url": "https://glygen.org/publication/PubMed/8939989" } ] }, { "title": "Editing of the HLA-DR-peptide repertoire by HLA-DM.", "journal": "The EMBO journal", "date": "1996", "authors": "Kropshofer H, Vogt AB, Moldenhauer G, Hammer J, Blum JS, Hammerling GJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "8947036", "url": "https://glygen.org/publication/PubMed/8947036" } ] }, { "title": "HLA-DM acts as a molecular chaperone and rescues empty HLA-DR molecules at lysosomal pH.", "journal": "Immunity", "date": "1997", "authors": "Kropshofer H, Arndt SO, Moldenhauer G, Hammerling GJ, Vogt AB", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "9075930", "url": "https://glygen.org/publication/PubMed/9075930" } ] }, { "title": "Decreased endosomal delivery of major histocompatibility complex class II-invariant chain complexes in dynamin-deficient cells.", "journal": "The Journal of biological chemistry", "date": "1997", "authors": "Wang K, Peterson PA, Karlsson L", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "9202021", "url": "https://glygen.org/publication/PubMed/9202021" } ] }, { "title": "Negative regulation by HLA-DO of MHC class II-restricted antigen processing.", "journal": "Science (New York, N.Y.)", "date": "1997", "authors": "Denzin LK, Sant'Angelo DB, Hammond C, Surman MJ, Cresswell P", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "9311912", "url": "https://glygen.org/publication/PubMed/9311912" } ] }, { "title": "Interaction of MHC class II molecules with the invariant chain: role of the invariant chain (81-90) region.", "journal": "The EMBO journal", "date": "1997", "authors": "Stumptner P, Benaroch P", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "9312039", "url": "https://glygen.org/publication/PubMed/9312039" } ] }, { "title": "Medium chains of adaptor complexes AP-1 and AP-2 recognize leucine-based sorting signals from the invariant chain.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Rodionov DG, Bakke O", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "9497313", "url": "https://glygen.org/publication/PubMed/9497313" } ] }, { "title": "Cathepsins B and D are dispensable for major histocompatibility complex class II-mediated antigen presentation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1998", "authors": "Deussing J, Roth W, Saftig P, Peters C, Ploegh HL, Villadangos JA", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "9539769", "url": "https://glygen.org/publication/PubMed/9539769" } ] }, { "title": "Cathepsin L: critical role in Ii degradation and CD4 T cell selection in the thymus.", "journal": "Science (New York, N.Y.)", "date": "1998", "authors": "Nakagawa T, Roth W, Wong P, Nelson A, Farr A, Deussing J, Villadangos JA, Ploegh H, Peters C, Rudensky AY", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "9545226", "url": "https://glygen.org/publication/PubMed/9545226" } ] }, { "title": "A role for HLA-DO as a co-chaperone of HLA-DM in peptide loading of MHC class II molecules.", "journal": "The EMBO journal", "date": "1998", "authors": "Kropshofer H, Vogt AB, Thery C, Armandola EA, Li BC, Moldenhauer G, Amigorena S, Hammerling GJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "9606180", "url": "https://glygen.org/publication/PubMed/9606180" } ] }, { "title": "Cloning, expression pattern, and chromosomal assignment to 16q23 of the human gamma-adaptin gene (ADTG).", "journal": "Genomics", "date": "1998", "authors": "Peyrard M, Parveneh S, Lagercrantz S, Ekman M, Fransson I, Sahlen S, Dumanski JP", "evidence": [ { "database": "UniProtKB", "id": "O43747", "url": "https://www.uniprot.org/uniprot/O43747" } ], "reference": [ { "type": "PubMed", "id": "9653655", "url": "https://glygen.org/publication/PubMed/9653655" } ] }, { "title": "Identification and characterization of novel clathrin adaptor-related proteins.", "journal": "J. Biol. Chem.", "date": "1998", "authors": "Takatsu H, Sakurai M, Shin HW, Murakami K, Nakayama K", "evidence": [ { "database": "UniProtKB", "id": "O43747", "url": "https://www.uniprot.org/uniprot/O43747" }, { "database": "Reactome", "id": "R-HSA-432720", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432720" } ], "reference": [ { "type": "PubMed", "id": "9733768", "url": "https://glygen.org/publication/PubMed/9733768" } ] } ], "pathway": [ { "id": "hsa:164", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:164", "resource": "KEGG Pathway" }, { "id": "R-HSA-164940", "name": "Nef mediated downregulation of MHC class I complex cell surface expression", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-164940", "resource": "Reactome", "description": "Nef mediated downregulation of MHC class I complex cell surface expression" }, { "id": "R-HSA-2132295", "name": "MHC class II antigen presentation", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295", "resource": "Reactome", "description": "MHC class II antigen presentation" }, { "id": "R-HSA-432720", "name": "Lysosome Vesicle Biogenesis", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432720", "resource": "Reactome", "description": "Lysosome Vesicle Biogenesis" }, { "id": "R-HSA-432722", "name": "Golgi Associated Vesicle Biogenesis", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432722", "resource": "Reactome", "description": "Golgi Associated Vesicle Biogenesis" } ], "orthologs": [ { "uniprot_canonical_ac": "P22892-1", "protein_name": "AP-1 complex subunit gamma-1", "gene_name": "Ap1g1", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MPAPIRLRELIRTIRTARTQAEEREMIQKECAAIRSSFREEDNTYRCRNVAKLLYMHMLGYPAHFGQLECLKLIASQKFTDKRIGYLGAMLLLDERQDVHLLMTNCIKNDLNHSTQFVQGLALCTLGCMGSSEMCRDLAGEVEKLLKTSNSYLRKKAALCAVHVIRKVPELMEMFLPATKNLLNEKNHGVLHTSVVLLTEMCERSPDMLAHFRKLVPQLVRILKNLIMSGYSPEHDVSGISDPFLQVRILRLLRILGRNDDDSSEAMNDILAQVATNTETSKNVGNAILYETVLTIMDIKSESGLRVLAINILGRFLLNNDKNIRYVALTSLLKTVQTDHNAVQRHRSTIVDCLKDLDVSIKRRAMELSFALVNGNNIRGMMKELLYFLDSCEPEFKADCASGIFLAAEKYAPSKRWHIDTIMRVLTTAGSYVRDDAVPNLIQLITNSVEMHAYTVQRLYKAILGDYSQQPLVQVAAWCIGEYGDLLVSGQCEEEEPIQVTEDEVLDILESVLISNMSTSVTRGYALTAIMKLSTRFTCTVNRIKKVVSIYGSSIDVELQQRAVEYNALFKKYDHMRSALLERMPVMEKVTTNGPSEIVQTNGETEPAPLETKPPPSGPQPTSQANDLLDLLGGNDITPVIPTAPTSKPASAGGELLDLLGDITLTGAPAAAPTPASVPQISQPPFLLDGLSSQPLFNDIAPGIPSITAYSKNGLKIEFTFERSNTNPSVTVITIQASNSTELDMTDFVFQAAVPKTFQLQLLSPSSSVVPAFNTGTITQVIKVLNPQKQQLRMRIKLTYNHKGSAMQDLAEVNNFPPQSWQ", "length": 822 }, "evidence": [ { "id": "45929880", "url": "http://www.informatics.jax.org/homology/45929880", "database": "MGI" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "Q12028-1", "protein_name": "AP-1 complex subunit gamma-1", "gene_name": "APL4", "tax_id": 559292, "organism": "Saccharomyces cerevisiae S288C", "sequence": { "sequence": "MGSSLRSFIKDVRGAKTLADERAIITKQSAKIRTKLRDDHLPHEKRRVNIQKLLYLYILGEKTHFGQVESINLIASDDFVDKRLGYLAATLLLDESEDLLTLLTNMLNNDLHHPNKYAVSLALTSLGFLSSPELARDLYPDVENIIKNSRDPFLLKKALQCAAKLIFKDVSLLEIFNIEDITKILSSHSICTHGVLLGVTKIIQSILLIGLNRKKDEDEDEDGIDYSNDILSPLSLLLRDFFIRLENMNSKNIEPGYDVQGICDPFLQCEIIYTLKLYFQVGELLNSNNVLDYKDNFCDLLTRIATNTDSTKNSGQAILYETVKTIFSLDLNQPLRVLGINILAKFLAGKDNNTKYVSLNTLLKVVPQEPTAVQRHRKFISHCLQDTDVSIRMRALELSFAILDDSNLVELVNELMKFLAKQDEDSKDLIIYTIDHLIDTFDTRVVKDESWKLDVFFNILKLVGSFINYEKINDILIIINNTSQLSDKSEFLRKMLTISLNGTSAEISEENIGWQLVLIWCIGEYGDLVLNEGNKNGADIINESSITDYLLTLQELYTATNLKIINYILTAALKLSVRFHDAKNIEKLRQLILSYTDSTDLSLQMKSNQYEIFFNQSISVKKIILETMPKFEKITEEQDNGKALSKNLISNEPVDLLSDLLGEDSKAESKASTGDNVKPIDILEEIFGEKNDIAQVPKNANKEESINHSSAVEANSGVTLPLDANKIYDSSSLNVYASLLSANSGLAHLDLYFQAKSLISDLKTFCAVPKAQKLTLGQLYPSSTINASQICKQSLKISGSGKLKLRVKLDFHLNGSSSITNEQFDHKFDETL", "length": 832 }, "evidence": [ { "id": "O43747", "url": "https://omabrowser.org/oma/group/O43747/", "database": "OMA" } ], "common_name": "Yeast" }, { "uniprot_canonical_ac": "Q7KVR8-1", "protein_name": "AP-1 complex subunit gamma", "gene_name": "AP-1gamma", "tax_id": 7227, "organism": "Drosophila melanogaster", "sequence": { "sequence": "MYPYYEQDWSVLPPENNRRFNPAFNMATIRQAFTEAVERVRMPTPTRLRDLIRQIRAARTAAEERAVVNKECAYIRSTFREEDSVWRCRNIAKLLYIHMLGYPAHFGQLECLKLTASTRFTDKRIGYLGAMLLLDERQDVHLLITNCLKNDLNSSTQFVVGLALCTLGAIASPEMARDLASEVERLMKSPNTYIRKKATLCAFRVIRRVPELMEIFLPATRSLLSEKNHGILITGVTLITEMCENSSDTLMHFKKDSGNREIVPNLVRILKNLILGGYSPEHDVSGVSDPFLQVKILRLLRILGHNDPDASEAMNDILAQVATNTETSKNVGNTILYETVLSIMDIRSEGGLRVLAVNILGRFLLNSDKNIRYVALNTLLRTVHADTSAVQRHRTTILECLKDPDVSIRRRAMELSFALINAQNIRTMTKELLLFLEKADAEFKAQCSSGMILAAERYSPTTRWHLDTQLSVLIAAGNYVRDDVVSSTIQLVSSSPVPEQTYITNRFWESLQVANHCEDKQPLLQVAVWAIGEYGDLFMYGANEDEFERPTESDLIAVYYKFLTSAQVSTTSKQYALVSLAKLSTRLQQCVEEIQALITSFGSHLNVDLQQRGVEFTQLFGHYKHLRPPLLEKMPAMQISRISSQNGESGGGSFDDNSPDVIENGVEGGGGGGHSLIESNMNTLGDNTNILLDLLGSTDLSAGGAGDLVAATDLSNAVHKKNSRNANDVVAPVSNNQDLLDLLDLDLSAPSSTTTGAPAGGGGGGGIVALVGDNNQSSAANMNNMLGGLDLGGFGSGLDSSASIPTNGNDLASMLGGLGAPPAASPSLAASAPVGNLIDGHAGSLLADLNPTAASNNVVVPPQGPRLTALDKDGLLVQLVSVRGSDCMRIYMTTTNNSDNTLDQYLLQAAVQRSFQLQMLTPSGSVLPPGGVITQEMRVVATSNATLRMRLRIQYVLDGQQQVEQTEVSGFPEQQPAPAAAE", "length": 982 }, "evidence": [ { "id": "O43747", "url": "https://omabrowser.org/oma/group/O43747/", "database": "OMA" } ], "common_name": "Fruit fly" } ], "go_annotation": { "categories": [ { "name": "Biological Process", "total": 13, "go_terms": [ { "name": "melanosome assembly", "id": "GO:1903232", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903232", "evidence": [ { "database": "UniProtKB", "id": "O43747", "url": "https://www.uniprot.org/uniprot/O43747" } ], "pmid": "" }, { "name": "intracellular protein transport", "id": "GO:0006886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006886", "evidence": [ { "database": "UniProtKB", "id": "O43747", "url": "https://www.uniprot.org/uniprot/O43747" } ], "pmid": "" }, { "name": "platelet dense granule organization", "id": "GO:0060155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060155", "evidence": [ { "database": "UniProtKB", "id": "O43747", "url": "https://www.uniprot.org/uniprot/O43747" } ], "pmid": "" }, { "name": "vesicle-mediated transport", "id": "GO:0016192", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016192", "evidence": [ { "database": "UniProtKB", "id": "O43747", "url": "https://www.uniprot.org/uniprot/O43747" } ], "pmid": "" }, { "name": "synaptic vesicle budding from endosome", "id": "GO:0016182", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016182", "evidence": [ { "database": "UniProtKB", "id": "O43747", "url": "https://www.uniprot.org/uniprot/O43747" } ], "pmid": "" }, { "name": "melanosome organization", "id": "GO:0032438", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032438", "evidence": [ { "database": "UniProtKB", "id": "O43747", "url": "https://www.uniprot.org/uniprot/O43747" } ], "pmid": "" }, { "name": "endosome to melanosome transport", "id": "GO:0035646", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035646", "evidence": [ { "database": "UniProtKB", "id": "O43747", "url": "https://www.uniprot.org/uniprot/O43747" } ], "pmid": "" }, { "name": "Golgi to lysosome transport", "id": "GO:0090160", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090160", "evidence": [ { "database": "UniProtKB", "id": "O43747", "url": "https://www.uniprot.org/uniprot/O43747" } ], "pmid": "" }, { "name": "positive regulation of natural killer cell degranulation", "id": "GO:0043323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043323", "evidence": [ { "database": "UniProtKB", "id": "O43747", "url": "https://www.uniprot.org/uniprot/O43747" } ], "pmid": "" }, { "name": "positive regulation of natural killer cell mediated cytotoxicity", "id": "GO:0045954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045954", "evidence": [ { "database": "UniProtKB", "id": "O43747", "url": "https://www.uniprot.org/uniprot/O43747" } ], "pmid": "" }, { "name": "synaptic vesicle endocytosis", "id": "GO:0048488", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048488", "evidence": [ { "database": "UniProtKB", "id": "O43747", "url": "https://www.uniprot.org/uniprot/O43747" } ], "pmid": "" }, { "name": "Golgi to vacuole transport", "id": "GO:0006896", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006896", "evidence": [ { "database": "UniProtKB", "id": "O43747", "url": "https://www.uniprot.org/uniprot/O43747" } ], "pmid": "" }, { "name": "basolateral protein secretion", "id": "GO:0110010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0110010", "evidence": [ { "database": "UniProtKB", "id": "O43747", "url": "https://www.uniprot.org/uniprot/O43747" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 19, "go_terms": [ { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "O43747", "url": "https://www.uniprot.org/uniprot/O43747" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "O43747", "url": "https://www.uniprot.org/uniprot/O43747" } ], "pmid": "" }, { "name": "early endosome", "id": "GO:0005769", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005769", "evidence": [ { "database": "UniProtKB", "id": "O43747", "url": "https://www.uniprot.org/uniprot/O43747" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "O43747", "url": "https://www.uniprot.org/uniprot/O43747" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "O43747", "url": "https://www.uniprot.org/uniprot/O43747" } ], "pmid": "" }, { "name": "clathrin-coated pit", "id": "GO:0005905", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005905", "evidence": [ { "database": "UniProtKB", "id": "O43747", "url": "https://www.uniprot.org/uniprot/O43747" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "O43747", "url": "https://www.uniprot.org/uniprot/O43747" } ], "pmid": "" }, { "name": "trans-Golgi network membrane", "id": "GO:0032588", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032588", "evidence": [ { "database": "UniProtKB", "id": "O43747", "url": "https://www.uniprot.org/uniprot/O43747" } ], "pmid": "" }, { "name": "intracellular membrane-bounded organelle", "id": "GO:0043231", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043231", "evidence": [ { "database": "UniProtKB", "id": "O43747", "url": "https://www.uniprot.org/uniprot/O43747" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "O43747", "url": "https://www.uniprot.org/uniprot/O43747" } ], "pmid": "" }, { "name": "recycling endosome", "id": "GO:0055037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055037", "evidence": [ { "database": "UniProtKB", "id": "O43747", "url": "https://www.uniprot.org/uniprot/O43747" } ], "pmid": "" }, { "name": "lysosomal membrane", "id": "GO:0005765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005765", "evidence": [ { "database": "UniProtKB", "id": "O43747", "url": "https://www.uniprot.org/uniprot/O43747" } ], "pmid": "" }, { "name": "cytoplasmic vesicle membrane", "id": "GO:0030659", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030659", "evidence": [ { "database": "UniProtKB", "id": "O43747", "url": "https://www.uniprot.org/uniprot/O43747" } ], "pmid": "" }, { "name": "clathrin-coated vesicle", "id": "GO:0030136", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030136", "evidence": [ { "database": "UniProtKB", "id": "O43747", "url": "https://www.uniprot.org/uniprot/O43747" } ], "pmid": "" }, { "name": "clathrin-coated vesicle membrane", "id": "GO:0030665", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030665", "evidence": [ { "database": "UniProtKB", "id": "O43747", "url": "https://www.uniprot.org/uniprot/O43747" } ], "pmid": "" }, { "name": "AP-1 adaptor complex", "id": "GO:0030121", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030121", "evidence": [ { "database": "UniProtKB", "id": "O43747", "url": "https://www.uniprot.org/uniprot/O43747" } ], "pmid": "" }, { "name": "presynapse", "id": "GO:0098793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098793", "evidence": [ { "database": "UniProtKB", "id": "O43747", "url": "https://www.uniprot.org/uniprot/O43747" } ], "pmid": "" }, { "name": "membrane coat", "id": "GO:0030117", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030117", "evidence": [ { "database": "UniProtKB", "id": "O43747", "url": "https://www.uniprot.org/uniprot/O43747" } ], "pmid": "" }, { "name": "intracellular vesicle", "id": "GO:0097708", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097708", "evidence": [ { "database": "UniProtKB", "id": "O43747", "url": "https://www.uniprot.org/uniprot/O43747" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 5, "go_terms": [ { "name": "collagen binding", "id": "GO:0005518", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005518", "evidence": [ { "database": "UniProtKB", "id": "O43747", "url": "https://www.uniprot.org/uniprot/O43747" } ], "pmid": "" }, { "name": "small GTPase binding", "id": "GO:0031267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031267", "evidence": [ { "database": "UniProtKB", "id": "O43747", "url": "https://www.uniprot.org/uniprot/O43747" } ], "pmid": "" }, { "name": "kinesin binding", "id": "GO:0019894", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019894", "evidence": [ { "database": "UniProtKB", "id": "O43747", "url": "https://www.uniprot.org/uniprot/O43747" } ], "pmid": "" }, { "name": "GTP-dependent protein binding", "id": "GO:0030742", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030742", "evidence": [ { "database": "UniProtKB", "id": "O43747", "url": "https://www.uniprot.org/uniprot/O43747" } ], "pmid": "" }, { "name": "clathrin adaptor activity", "id": "GO:0035615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035615", "evidence": [ { "database": "UniProtKB", "id": "O43747", "url": "https://www.uniprot.org/uniprot/O43747" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 112, "end_pos": 114, "annotation": "n_glycosylation_sequon" }, { "start_pos": 516, "end_pos": 518, "annotation": "n_glycosylation_sequon" }, { "start_pos": 664, "end_pos": 666, "annotation": "n_glycosylation_sequon" }, { "start_pos": 739, "end_pos": 741, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [], "snv_sites": [ 251 ], "glycation_sites": [], "phosphorylation_sites": [ 330 ], "sequon_annotation_sites": [ { "start_pos": 112, "end_pos": 114 }, { "start_pos": 516, "end_pos": 518 }, { "start_pos": 664, "end_pos": 666 }, { "start_pos": 739, "end_pos": 741 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "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": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "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": 1 }, { "field": "total_sites", "count": 1 } ], "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": 1 }, { "field": "total_sites", "count": 1 } ], "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": 1 }, { "field": "total_sites", "count": 1 } ], "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": 99 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }