[ { "uniprot_canonical_ac": "P35573-1", "uniprot_ac": "P35573", "uniprot_id": "GDE_HUMAN", "mass": { "chemical_mass": 174764.0, "monoisotopic_mass": 174764.0 }, "refseq": { "ac": "NP_000019", "name": "glycogen debranching enzyme isoform 1", "summary": "This gene encodes the glycogen debrancher enzyme which is involved in glycogen degradation. This enzyme has two independent catalytic activities which occur at different sites on the protein: a 4-alpha-glucotransferase activity and a amylo-1,6-glucosidase activity. Mutations in this gene are associated with glycogen storage disease although a wide range of enzymatic and clinical variability occurs which may be due to tissue-specific alternative splicing. Alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000019" }, "gene_names": [ { "name": "AGL", "type": "recommended", "evidence": [ { "id": "P35573", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P35573" } ] }, { "name": "AGL", "type": "synonym", "evidence": [ { "id": "NP_000019", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000019" } ] }, { "name": "GDE", "type": "synonym", "evidence": [ { "id": "NP_000019", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000019" }, { "id": "P35573", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P35573" } ] } ], "protein_names": [ { "name": "Glycogen debranching enzyme", "type": "recommended", "evidence": [ { "id": "P35573", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P35573/entry#names_and_taxonomy" } ] }, { "name": "Dextrin 6-alpha-D-glucosidase", "type": "synonym", "evidence": [ { "id": "P35573", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P35573/entry#names_and_taxonomy" } ] }, { "name": "Glycogen debrancher", "type": "synonym", "evidence": [ { "id": "P35573", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P35573/entry#names_and_taxonomy" } ] }, { "name": "Oligo-1,4-1,4-glucantransferase", "type": "synonym", "evidence": [ { "id": "P35573", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P35573/entry#names_and_taxonomy" } ] }, { "name": "amylo-1, 6-glucosidase, 4-alpha-glucanotransferase", "type": "synonym", "evidence": [ { "id": "NP_000019", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000019" } ] }, { "name": "amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferaseprovided", "type": "synonym", "evidence": [ { "id": "NP_000019", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000019" } ] }, { "name": "glycogen debrancher", "type": "synonym", "evidence": [ { "id": "NP_000019", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000019" } ] }, { "name": "glycogen debranching enzyme isoform 1", "type": "synonym", "evidence": [ { "id": "NP_000019", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000019" } ] }, { "name": "glycogen debranching enzyme", "type": "synonym", "evidence": [ { "id": "NP_000019", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000019" } ] }, { "name": "glycogen debranching protein", "type": "synonym", "evidence": [ { "id": "NP_000019", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000019" } ] } ], "function": [ { "annotation": "AGL loss causes high SHMT2 expression and consequently increases glycine-dependent nucleotide synthesis leading to bladder cancer growth. Review article", "evidence": [ { "database": "RefSeq", "id": "NP_000019", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000019" }, { "database": "PubMed", "id": "26975021", "url": "https://glygen.org/publication/PubMed/26975021" } ] }, { "annotation": "Multifunctional enzyme acting as 1,4-alpha-D-glucan:1,4-alpha-D-glucan 4-alpha-D-glycosyltransferase and amylo-1,6-glucosidase in glycogen degradation.", "evidence": [ { "database": "UniProtKB", "id": "P35573", "url": "https://www.uniprot.org/uniprotkb/P35573#function" } ] }, { "annotation": "Six novel mutations were identified in GSD III patients.", "evidence": [ { "database": "RefSeq", "id": "NP_000019", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000019" }, { "database": "PubMed", "id": "31028654", "url": "https://glygen.org/publication/PubMed/31028654" } ] }, { "annotation": "Spectrum of amyloglucosidase mutations in Asian Indian patients with Glycogen storage disease type III.", "evidence": [ { "database": "RefSeq", "id": "NP_000019", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000019" }, { "database": "PubMed", "id": "32222031", "url": "https://glygen.org/publication/PubMed/32222031" } ] }, { "annotation": "The study identified 31 novel mutations and extended the mutation spectrum of AGL in Chinese patients with glycogen storage disease type III.", "evidence": [ { "database": "RefSeq", "id": "NP_000019", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000019" }, { "database": "PubMed", "id": "26984562", "url": "https://glygen.org/publication/PubMed/26984562" } ] }, { "annotation": "This gene encodes the glycogen debrancher enzyme which is involved in glycogen degradation. This enzyme has two independent catalytic activities which occur at different sites on the protein: a 4-alpha-glucotransferase activity and a amylo-1,6-glucosidase activity. Mutations in this gene are associated with glycogen storage disease although a wide range of enzymatic and clinical variability occurs which may be due to tissue-specific alternative splicing. Alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_000019", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000019" } ] }, { "annotation": "This report of patients with GSD-III in Iran with 2 uncommon clinical presentations and 5 novel mutations in the AGL gene.", "evidence": [ { "database": "RefSeq", "id": "NP_000019", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000019" }, { "database": "PubMed", "id": "29794575", "url": "https://glygen.org/publication/PubMed/29794575" } ] } ], "disease": [ { "disease_id": "DOID:2748", "recommended_name": { "id": "DOID:2748", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2748", "name": "glycogen storage disease III", "description": "A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21." }, "synonyms": [ { "id": "DOID:2748", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2748", "name": "Glycogen storage disease, type III", "description": "" }, { "id": "DOID:2748", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2748", "name": "amylo 1,6 glucosidase deficiency", "description": "" }, { "id": "DOID:2748", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2748", "name": "deficiency of debranching enzyme", "description": "" }, { "id": "DOID:2748", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2748", "name": "deficiency of dextrin", "description": "" }, { "id": "DOID:2748", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2748", "name": "Glycogen storage disease 3", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "glycogen storage disease III", "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy." }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "AGL glycogen storage disease", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "Cori disease", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "Cori-Forbes disease", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "Forbes disease", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "GDE deficiency", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "GSD due to glycogen debranching enzyme deficiency", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "GSD type 3", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "GSDIII", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "amylo-1,6-glucosidase deficiency", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "glycogen storage disease III", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "glycogen storage disease caused by mutation in AGL", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "glycogen storage disease type 3", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "glycogen storage disease type III", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "glycogenosis due to glycogen debranching enzyme deficiency", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "glycogenosis type 3", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "glycogenosis type III", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "limit dextrinosis", "description": "" }, { "id": "MONDO:0009291", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009291", "name": "GSD3", "description": "" }, { "id": "MIM:232400", "resource": "MIM", "url": "https://www.omim.org/entry/232400", "name": "Glycogen storage disease 3", "description": "Glycogen storage disease 3" } ], "unlinked_id_list": [], "evidence": [ { "id": "232400", "database": "MIM", "url": "https://www.omim.org/entry/232400" }, { "id": "2748", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2748" } ] }, { "disease_id": "DOID:4676", "recommended_name": { "id": "DOID:4676", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4676", "name": "uremia", "description": "" }, "synonyms": [ { "id": "DOID:4676", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4676", "name": "UREMIA OF renal ORIGIN", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "4676", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4676" } ] }, { "disease_id": "DOID:5212", "recommended_name": { "id": "DOID:5212", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5212", "name": "congenital disorder of glycosylation", "description": "A carbohydrate metabolic disorder that involves deficient or defective glycosylation of a variety of tissue proteins and/or lipids." }, "synonyms": [ { "id": "DOID:5212", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5212", "name": "carbohydrate-deficient glycoprotein syndrome", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "5212", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5212" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "81.61", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000162688", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000162688" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "93.18", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000162688", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000162688" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "79.84", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000162688", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000162688" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "64.84", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000162688", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000162688" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "88.31", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000162688", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000162688" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "85.77", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000162688", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000162688" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "79.44", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000162688", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000162688" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "88.74", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000162688", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000162688" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "80.54", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000162688", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000162688" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "76.19", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000162688", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000162688" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "92.79", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000162688", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000162688" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "79.78", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000162688", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000162688" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "81.6", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000162688", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000162688" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "https://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P35573", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P35573" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "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: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": "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: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: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: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: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: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: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: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: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: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: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:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "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:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] } ] }, { "significant": "No", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "https://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P35573", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P35573" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "https://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "P35573", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P35573" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://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" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Head and neck cancer [DO disease name]", "url": "https://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "P35573", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P35573" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ], "unlinked_id_list": [ "DOID:1542" ], "evidence": [ { "id": "11934", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11934" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Lung cancer [DO disease name]", "url": "https://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "P35573", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P35573" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "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: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: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": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Breast cancer [DO disease name]", "url": "https://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "P35573", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P35573" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://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": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "unlinked_id_list": [ "DOID:3017", "DOID:0050938" ], "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "https://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P35573", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P35573" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thyroid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3973", "DOID:0080524", "DOID:0080525" ], "evidence": [ { "id": "1781", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1781" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Kidney cancer [DO disease name]", "url": "https://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "P35573", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P35573" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3675", "DOID:4455" ], "evidence": [ { "id": "263", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:263" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Liver cancer [DO disease name]", "url": "https://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "P35573", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P35573" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "3571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3571" } ] } ] }, { "significant": "No", "trend": "down", "name": "Uterine cancer [DO disease name]", "url": "https://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "P35573", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P35573" } ], "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:9460", "DOID:5166", "DOID:2021", "DOID:4114" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ] }, { "significant": "No", "trend": "down", "name": "Esophageal cancer [DO disease name]", "url": "https://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "P35573", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P35573" } ], "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://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": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Colorectal cancer [DO disease name]", "url": "https://disease-ontology.org/term/DOID:9256", "evidence": [ { "database": "BioXpress", "id": "P35573", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P35573" } ], "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://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": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P35573", "url": "https://www.uniprot.org/uniprotkb/P35573" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "gene": [ { "name": "AGL", "url": "https://www.uniprot.org/uniprotkb/P35573", "locus": { "chromosome": "1", "start_pos": 99924023, "end_pos": 99850361, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000162688", "url": "https://www.ensembl.org/id/ENSG00000162688" } ] } } ], "crossref": [ { "id": "HGNC:321", "url": "https://alliancegenome.org/gene/HGNC:321", "database": "AGR", "categories": [ "Protein Classification" ] }, { "id": "P35573", "url": "https://alphafold.ebi.ac.uk/entry/P35573", "database": "AlphaFoldDB", "categories": [] }, { "id": "ENSG00000162688", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000162688", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "P35573", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P35573", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "3.2.1.33", "url": "https://www.brenda-enzymes.org/enzyme.php?ecno=3.2.1.33&UniProtAcc=P35573", "database": "BRENDA", "categories": [ "Enzyme and Pathway" ] }, { "id": "GH13", "url": "http://www.cazy.org/GH13.html", "database": "CAZy", "categories": [ "Protein Classification" ] }, { "id": "GH133", "url": "http://www.cazy.org/GH133.html", "database": "CAZy", "categories": [ "Protein Classification" ] }, { "id": "cd11327", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd11327", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "CHEMBL5272", "url": "https://www.ebi.ac.uk/chembl/target/inspect/CHEMBL5272", "database": "ChEMBL", "categories": [ "Chemical" ] }, { "id": "AGL", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=AGL", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "178", "url": "https://www.ncbi.nlm.nih.gov/gene/178", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "321", "url": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:321", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "178", "url": "https://hpo.jax.org/browse/gene/NCBIGene:178", "database": "HPO", "categories": [ "Other" ] }, { "id": "8ZEQ", "url": "https://www.ncbi.nlm.nih.gov/Structure/icn3d/?mmdbid=8ZEQ&bu=0", "database": "iCn3D", "categories": [ "3D Structure" ] }, { "id": "1003191", "url": "https://www.iedb.org/epitope/1003191", "database": "IEDB", "categories": [ "Other" ] }, { "id": "1016089", "url": "https://www.iedb.org/epitope/1016089", "database": "IEDB", "categories": [ "Other" ] }, { "id": "1023185", "url": "https://www.iedb.org/epitope/1023185", "database": "IEDB", "categories": [ "Other" ] }, { "id": "1024562", "url": "https://www.iedb.org/epitope/1024562", "database": "IEDB", "categories": [ "Other" ] }, { "id": "1031500", "url": "https://www.iedb.org/epitope/1031500", "database": "IEDB", "categories": [ "Other" ] }, { "id": "1042687", "url": "https://www.iedb.org/epitope/1042687", "database": "IEDB", "categories": [ "Other" ] }, { "id": "1050910", "url": "https://www.iedb.org/epitope/1050910", "database": "IEDB", "categories": [ "Other" ] }, { "id": "1055908", "url": "https://www.iedb.org/epitope/1055908", "database": "IEDB", "categories": [ "Other" ] }, { "id": "1059029", "url": "https://www.iedb.org/epitope/1059029", "database": "IEDB", "categories": [ "Other" ] }, { "id": "1095280", "url": "https://www.iedb.org/epitope/1095280", "database": "IEDB", "categories": [ "Other" ] }, { "id": "1150852", "url": "https://www.iedb.org/epitope/1150852", "database": "IEDB", "categories": [ "Other" ] }, { "id": "1155020", "url": "https://www.iedb.org/epitope/1155020", "database": "IEDB", "categories": [ "Other" ] }, { "id": "1173032", "url": "https://www.iedb.org/epitope/1173032", "database": "IEDB", "categories": [ "Other" ] }, { "id": "1181151", "url": "https://www.iedb.org/epitope/1181151", "database": "IEDB", "categories": [ "Other" ] }, { "id": "1270783", "url": "https://www.iedb.org/epitope/1270783", "database": "IEDB", "categories": [ "Other" ] }, { "id": "1339530", "url": "https://www.iedb.org/epitope/1339530", "database": "IEDB", "categories": [ "Other" ] }, { "id": "1350392", "url": "https://www.iedb.org/epitope/1350392", "database": "IEDB", "categories": [ "Other" ] }, { "id": "1360576", "url": "https://www.iedb.org/epitope/1360576", "database": "IEDB", "categories": [ "Other" ] }, { "id": "1366943", "url": "https://www.iedb.org/epitope/1366943", "database": "IEDB", "categories": [ "Other" ] }, { "id": "1369227", "url": "https://www.iedb.org/epitope/1369227", "database": "IEDB", "categories": [ "Other" ] }, { "id": "1372071", "url": "https://www.iedb.org/epitope/1372071", "database": "IEDB", "categories": [ "Other" ] }, { "id": "1574454", "url": "https://www.iedb.org/epitope/1574454", "database": "IEDB", "categories": [ "Other" ] }, { "id": "1588958", "url": "https://www.iedb.org/epitope/1588958", "database": "IEDB", "categories": [ "Other" ] }, { "id": "1589193", "url": "https://www.iedb.org/epitope/1589193", "database": "IEDB", "categories": [ "Other" ] }, { "id": "1590204", "url": "https://www.iedb.org/epitope/1590204", "database": "IEDB", "categories": [ "Other" ] }, { "id": "1592792", "url": "https://www.iedb.org/epitope/1592792", "database": "IEDB", "categories": [ "Other" ] }, { "id": "1621681", "url": "https://www.iedb.org/epitope/1621681", "database": "IEDB", "categories": [ "Other" ] }, { "id": "1823000", "url": "https://www.iedb.org/epitope/1823000", "database": "IEDB", "categories": [ "Other" ] }, { "id": "1828066", "url": "https://www.iedb.org/epitope/1828066", "database": "IEDB", "categories": [ "Other" ] }, { "id": "1833696", "url": "https://www.iedb.org/epitope/1833696", "database": "IEDB", "categories": [ "Other" ] }, { "id": "1844136", "url": "https://www.iedb.org/epitope/1844136", "database": "IEDB", "categories": [ "Other" ] }, { "id": "1882101", "url": "https://www.iedb.org/epitope/1882101", "database": "IEDB", "categories": [ "Other" ] }, { "id": "1901447", "url": "https://www.iedb.org/epitope/1901447", "database": "IEDB", "categories": [ "Other" ] }, { "id": "1919310", "url": "https://www.iedb.org/epitope/1919310", "database": "IEDB", "categories": [ "Other" ] }, { "id": "1936478", "url": "https://www.iedb.org/epitope/1936478", "database": "IEDB", "categories": [ "Other" ] }, { "id": "1975773", "url": "https://www.iedb.org/epitope/1975773", "database": "IEDB", "categories": [ "Other" ] }, { "id": "1984048", "url": "https://www.iedb.org/epitope/1984048", "database": "IEDB", "categories": [ "Other" ] }, { "id": "1998187", "url": "https://www.iedb.org/epitope/1998187", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2016339", "url": "https://www.iedb.org/epitope/2016339", "database": "IEDB", "categories": [ "Other" ] }, { "id": "203173", "url": "https://www.iedb.org/epitope/203173", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2041248", "url": "https://www.iedb.org/epitope/2041248", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2046331", "url": "https://www.iedb.org/epitope/2046331", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2051645", "url": "https://www.iedb.org/epitope/2051645", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2139139", "url": "https://www.iedb.org/epitope/2139139", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2139370", "url": "https://www.iedb.org/epitope/2139370", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2141808", "url": "https://www.iedb.org/epitope/2141808", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2141969", "url": "https://www.iedb.org/epitope/2141969", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2245743", "url": "https://www.iedb.org/epitope/2245743", "database": "IEDB", "categories": [ "Other" ] }, { "id": "2247880", "url": "https://www.iedb.org/epitope/2247880", "database": "IEDB", "categories": [ "Other" ] }, { "id": "428753", "url": "https://www.iedb.org/epitope/428753", "database": "IEDB", "categories": [ "Other" ] }, { "id": "434307", "url": "https://www.iedb.org/epitope/434307", "database": "IEDB", "categories": [ "Other" ] }, { "id": "444084", "url": "https://www.iedb.org/epitope/444084", "database": "IEDB", "categories": [ "Other" ] }, { "id": "455600", "url": "https://www.iedb.org/epitope/455600", "database": "IEDB", "categories": [ "Other" ] }, { "id": "458997", "url": "https://www.iedb.org/epitope/458997", "database": "IEDB", "categories": [ "Other" ] }, { "id": "467653", "url": "https://www.iedb.org/epitope/467653", "database": "IEDB", "categories": [ "Other" ] }, { "id": "481089", "url": "https://www.iedb.org/epitope/481089", "database": "IEDB", "categories": [ "Other" ] }, { "id": "490524", "url": "https://www.iedb.org/epitope/490524", "database": "IEDB", "categories": [ "Other" ] }, { "id": "491139", "url": "https://www.iedb.org/epitope/491139", "database": "IEDB", "categories": [ "Other" ] }, { "id": "495200", "url": "https://www.iedb.org/epitope/495200", "database": "IEDB", "categories": [ "Other" ] }, { "id": "504223", "url": "https://www.iedb.org/epitope/504223", "database": "IEDB", "categories": [ "Other" ] }, { "id": "507869", "url": "https://www.iedb.org/epitope/507869", "database": "IEDB", "categories": [ "Other" ] }, { "id": "508308", "url": "https://www.iedb.org/epitope/508308", "database": "IEDB", "categories": [ "Other" ] }, { "id": "517357", "url": "https://www.iedb.org/epitope/517357", "database": "IEDB", "categories": [ "Other" ] }, { "id": "546229", "url": "https://www.iedb.org/epitope/546229", "database": "IEDB", "categories": [ "Other" ] }, { "id": "573198", "url": "https://www.iedb.org/epitope/573198", "database": "IEDB", "categories": [ "Other" ] }, { "id": "589834", "url": "https://www.iedb.org/epitope/589834", "database": "IEDB", "categories": [ "Other" ] }, { "id": "597435", "url": "https://www.iedb.org/epitope/597435", "database": "IEDB", "categories": [ "Other" ] }, { "id": "598605", "url": "https://www.iedb.org/epitope/598605", "database": "IEDB", "categories": [ "Other" ] }, { "id": "617207", "url": "https://www.iedb.org/epitope/617207", "database": "IEDB", "categories": [ "Other" ] }, { "id": "623929", "url": "https://www.iedb.org/epitope/623929", "database": "IEDB", "categories": [ "Other" ] }, { "id": "629067", "url": "https://www.iedb.org/epitope/629067", "database": "IEDB", "categories": [ "Other" ] }, { "id": "633603", "url": "https://www.iedb.org/epitope/633603", "database": "IEDB", "categories": [ "Other" ] }, { "id": "704854", "url": "https://www.iedb.org/epitope/704854", "database": "IEDB", "categories": [ "Other" ] }, { "id": "709025", "url": "https://www.iedb.org/epitope/709025", "database": "IEDB", "categories": [ "Other" ] }, { "id": "716396", "url": "https://www.iedb.org/epitope/716396", "database": "IEDB", "categories": [ "Other" ] }, { "id": "719403", "url": "https://www.iedb.org/epitope/719403", "database": "IEDB", "categories": [ "Other" ] }, { "id": "724473", "url": "https://www.iedb.org/epitope/724473", "database": "IEDB", "categories": [ "Other" ] }, { "id": "724617", "url": "https://www.iedb.org/epitope/724617", "database": "IEDB", "categories": [ "Other" ] }, { "id": "725396", "url": "https://www.iedb.org/epitope/725396", "database": "IEDB", "categories": [ "Other" ] }, { "id": "735761", "url": "https://www.iedb.org/epitope/735761", "database": "IEDB", "categories": [ "Other" ] }, { "id": "766657", "url": "https://www.iedb.org/epitope/766657", "database": "IEDB", "categories": [ "Other" ] }, { "id": "847324", "url": "https://www.iedb.org/epitope/847324", "database": "IEDB", "categories": [ "Other" ] }, { "id": "883916", "url": "https://www.iedb.org/epitope/883916", "database": "IEDB", "categories": [ "Other" ] }, { "id": "895107", "url": "https://www.iedb.org/epitope/895107", "database": "IEDB", "categories": [ "Other" ] }, { "id": "988211", "url": "https://www.iedb.org/epitope/988211", "database": "IEDB", "categories": [ "Other" ] }, { "id": "999056", "url": "https://www.iedb.org/epitope/999056", "database": "IEDB", "categories": [ "Other" ] }, { "id": "P35573", "url": "https://www.ebi.ac.uk/intact/interactors/id:P35573*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR006421", "url": "https://www.ebi.ac.uk/interpro/entry/IPR006421", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR008928", "url": "https://www.ebi.ac.uk/interpro/entry/IPR008928", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR010401", "url": "https://www.ebi.ac.uk/interpro/entry/IPR010401", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR017853", "url": "https://www.ebi.ac.uk/interpro/entry/IPR017853", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR029436", "url": "https://www.ebi.ac.uk/interpro/entry/IPR029436", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR032788", "url": "https://www.ebi.ac.uk/interpro/entry/IPR032788", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR032790", "url": "https://www.ebi.ac.uk/interpro/entry/IPR032790", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR032792", "url": "https://www.ebi.ac.uk/interpro/entry/IPR032792", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:178", "url": "https://www.genome.jp/dbget-bin/www_bget?hsa:178", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "232400", "url": "http://www.omim.org/entry/232400", "database": "MIM", "categories": [ "Other" ] }, { "id": "610860", "url": "http://www.omim.org/entry/610860", "database": "MIM", "categories": [ "Other" ] }, { "id": "P35573", "url": "https://oglcnac.org/atlas/detail/P35573", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "YEEGHVH", "url": "https://omabrowser.org/oma/group/YEEGHVH/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "A0A1C7CYW1", "url": "https://www.orthodb.org/?gene=A0A1C7CYW1", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "P35573", "url": "https://www.orthodb.org/?gene=P35573", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR10569", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10569", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR10569:SF2", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10569:SF2", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "pdb_00008zeq", "url": "https://www.rcsb.org/structure/pdb_00008zeq", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "8ZEQ", "url": "https://www.rcsb.org/structure/8ZEQ", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF06202", "url": "https://www.ebi.ac.uk/interpro/entry/pfam/PF06202", "database": "Pfam", "categories": [ "Protein Classification", "Other" ] }, { "id": "PF14699", "url": "https://www.ebi.ac.uk/interpro/entry/pfam/PF14699", "database": "Pfam", "categories": [ "Protein Classification", "Other" ] }, { "id": "PF14701", "url": "https://www.ebi.ac.uk/interpro/entry/pfam/PF14701", "database": "Pfam", "categories": [ "Protein Classification", "Other" ] }, { "id": "PF14702", "url": "https://www.ebi.ac.uk/interpro/entry/pfam/PF14702", "database": "Pfam", "categories": [ "Protein Classification", "Other" ] }, { "id": "P35573", "url": "https://pharos.nih.gov/targets/P35573", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR:P35573", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:P35573", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-6798695", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6798695", "database": "Reactome", "categories": [ "Enzyme and Pathway" ] }, { "id": "R-HSA-70221", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70221", "database": "Reactome", "categories": [ "Enzyme and Pathway" ] }, { "id": "NP_000019", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000019", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A0A1C7CYW1", "url": "https://www.uniprot.org/uniprotkb/A0A1C7CYW1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1C7CYW1-1", "url": "https://www.uniprot.org/uniprotkb/A0A1C7CYW1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P35573", "url": "https://www.uniprot.org/uniprotkb/P35573", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P35573-1", "url": "https://www.uniprot.org/uniprotkb/P35573-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P35573-2", "url": "https://www.uniprot.org/uniprotkb/P35573-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P35573-3", "url": "https://www.uniprot.org/uniprotkb/P35573-3", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MGHSKQIRILLLNEMEKLEKTLFRLEQGYELQFRLGPTLQGKAVTVYTNYPFPGETFNREKFRSLDWENPTEREDDSDKYCKLNLQQSGSFQYYFLQGNEKSGGGYIVVDPILRVGADNHVLPLDCVTLQTFLAKCLGPFDEWESRLRVAKESGYNMIHFTPLQTLGLSRSCYSLANQLELNPDFSRPNRKYTWNDVGQLVEKLKKEWNVICITDVVYNHTAANSKWIQEHPECAYNLVNSPHLKPAWVLDRALWRFSCDVAEGKYKEKGIPALIENDHHMNSIRKIIWEDIFPKLKLWEFFQVDVNKAVEQFRRLLTQENRRVTKSDPNQHLTIIQDPEYRRFGCTVDMNIALTTFIPHDKGPAAIEECCNWFHKRMEELNSEKHRLINYHQEQAVNCLLGNVFYERLAGHGPKLGPVTRKHPLVTRYFTFPFEEIDFSMEESMIHLPNKACFLMAHNGWVMGDDPLRNFAEPGSEVYLRRELICWGDSVKLRYGNKPEDCPYLWAHMKKYTEITATYFQGVRLDNCHSTPLHVAEYMLDAARNLQPNLYVVAELFTGSEDLDNVFVTRLGISSLIREAMSAYNSHEEGRLVYRYGGEPVGSFVQPCLRPLMPAIAHALFMDITHDNECPIVHRSAYDALPSTTIVSMACCASGSTRGYDELVPHQISVVSEERFYTKWNPEALPSNTGEVNFQSGIIAARCAISKLHQELGAKGFIQVYVDQVDEDIVAVTRHSPSIHQSVVAVSRTAFRNPKTSFYSKEVPQMCIPGKIEEVVLEARTIERNTKPYRKDENSINGTPDITVEIREHIQLNESKIVKQAGVATKGPNEYIQEIEFENLSPGSVIIFRVSLDPHAQVAVGILRNHLTQFSPHFKSGSLAVDNADPILKIPFASLASRLTLAELNQILYRCESEEKEDGGGCYDIPNWSALKYAGLQGLMSVLAEIRPKNDLGHPFCNNLRSGDWMIDYVSNRLISRSGTIAEVGKWLQAMFFYLKQIPRYLIPCYFDAILIGAYTTLLDTAWKQMSSFVQNGSTFVKHLSLGSVQLCGVGKFPSLPILSPALMDVPYRLNEITKEKEQCCVSLAAGLPHFSSGIFRCWGRDTFIALRGILLITGRYVEARNIILAFAGTLRHGLIPNLLGEGIYARYNCRDAVWWWLQCIQDYCKMVPNGLDILKCPVSRMYPTDDSAPLPAGTLDQPLFEVIQEAMQKHMQGIQFRERNAGPQIDRNMKDEGFNITAGVDEETGFVYGGNRFNCGTWMDKMGESDRARNRGIPATPRDGSAVEIVGLSKSAVRWLLELSKKNIFPYHEVTVKRHGKAIKVSYDEWNRKIQDNFEKLFHVSEDPSDLNEKHPNLVHKRGIYKDSYGASSPWCDYQLRPNFTIAMVVAPELFTTEKAWKALEIAEKKLLGPLGMKTLDPDDMVYCGIYDNALDNDNYNLAKGFNYHQGPEWLWPIGYFLRAKLYFSRLMGPETTAKTIVLVKNVLSRHYVHLERSPWKGLPELTNENAQYCPFSCETQAWSIATILETLYDL", "length": 1532, "header": "sp|P35573-1|GDE_HUMAN Isoform 1 of Glycogen debranching enzyme OS=Homo sapiens OX=9606 GN=AGL PE=1 SV=3 CANONICAL=P35573-1" }, "isoforms": [ { "isoform_ac": "A0A1C7CYW1-1", "url": "https://www.uniprot.org/uniprotkb/P35573/entry#A0A1C7CYW1-1", "sequence": { "sequence": "MGHSKQIRILLLNEMEKLEKTLFRLEQETGSHYVAQVDIELLDSSNPPSLASESTGITSISHRAWPQF", "length": 68, "header": "tr|A0A1C7CYW1-1|GDE_HUMAN Computationally mapped isoform of Glycogen debranching enzyme OS=Homo sapiens OX=9606 GN=AGL PE=1 SV=1 CANONICAL=P35573-1" }, "locus": { "chromosome": "1", "start_pos": 99852682, "end_pos": 99851043, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000361302.7", "url": "https://www.ensembl.org/id/ENST00000361302.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000354971.4", "url": "https://www.ensembl.org/id/ENSP00000354971.4" } ] } }, { "isoform_ac": "P35573-1", "url": "https://www.uniprot.org/uniprotkb/P35573/entry#P35573-1", "sequence": { "sequence": "MGHSKQIRILLLNEMEKLEKTLFRLEQGYELQFRLGPTLQGKAVTVYTNYPFPGETFNREKFRSLDWENPTEREDDSDKYCKLNLQQSGSFQYYFLQGNEKSGGGYIVVDPILRVGADNHVLPLDCVTLQTFLAKCLGPFDEWESRLRVAKESGYNMIHFTPLQTLGLSRSCYSLANQLELNPDFSRPNRKYTWNDVGQLVEKLKKEWNVICITDVVYNHTAANSKWIQEHPECAYNLVNSPHLKPAWVLDRALWRFSCDVAEGKYKEKGIPALIENDHHMNSIRKIIWEDIFPKLKLWEFFQVDVNKAVEQFRRLLTQENRRVTKSDPNQHLTIIQDPEYRRFGCTVDMNIALTTFIPHDKGPAAIEECCNWFHKRMEELNSEKHRLINYHQEQAVNCLLGNVFYERLAGHGPKLGPVTRKHPLVTRYFTFPFEEIDFSMEESMIHLPNKACFLMAHNGWVMGDDPLRNFAEPGSEVYLRRELICWGDSVKLRYGNKPEDCPYLWAHMKKYTEITATYFQGVRLDNCHSTPLHVAEYMLDAARNLQPNLYVVAELFTGSEDLDNVFVTRLGISSLIREAMSAYNSHEEGRLVYRYGGEPVGSFVQPCLRPLMPAIAHALFMDITHDNECPIVHRSAYDALPSTTIVSMACCASGSTRGYDELVPHQISVVSEERFYTKWNPEALPSNTGEVNFQSGIIAARCAISKLHQELGAKGFIQVYVDQVDEDIVAVTRHSPSIHQSVVAVSRTAFRNPKTSFYSKEVPQMCIPGKIEEVVLEARTIERNTKPYRKDENSINGTPDITVEIREHIQLNESKIVKQAGVATKGPNEYIQEIEFENLSPGSVIIFRVSLDPHAQVAVGILRNHLTQFSPHFKSGSLAVDNADPILKIPFASLASRLTLAELNQILYRCESEEKEDGGGCYDIPNWSALKYAGLQGLMSVLAEIRPKNDLGHPFCNNLRSGDWMIDYVSNRLISRSGTIAEVGKWLQAMFFYLKQIPRYLIPCYFDAILIGAYTTLLDTAWKQMSSFVQNGSTFVKHLSLGSVQLCGVGKFPSLPILSPALMDVPYRLNEITKEKEQCCVSLAAGLPHFSSGIFRCWGRDTFIALRGILLITGRYVEARNIILAFAGTLRHGLIPNLLGEGIYARYNCRDAVWWWLQCIQDYCKMVPNGLDILKCPVSRMYPTDDSAPLPAGTLDQPLFEVIQEAMQKHMQGIQFRERNAGPQIDRNMKDEGFNITAGVDEETGFVYGGNRFNCGTWMDKMGESDRARNRGIPATPRDGSAVEIVGLSKSAVRWLLELSKKNIFPYHEVTVKRHGKAIKVSYDEWNRKIQDNFEKLFHVSEDPSDLNEKHPNLVHKRGIYKDSYGASSPWCDYQLRPNFTIAMVVAPELFTTEKAWKALEIAEKKLLGPLGMKTLDPDDMVYCGIYDNALDNDNYNLAKGFNYHQGPEWLWPIGYFLRAKLYFSRLMGPETTAKTIVLVKNVLSRHYVHLERSPWKGLPELTNENAQYCPFSCETQAWSIATILETLYDL", "length": 1532, "header": "sp|P35573-1|GDE_HUMAN Isoform 1 of Glycogen debranching enzyme OS=Homo sapiens OX=9606 GN=AGL PE=1 SV=3 CANONICAL=P35573-1" }, "locus": { "chromosome": "1", "start_pos": 99921648, "end_pos": 99851043, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000965593.1", "url": "https://www.ensembl.org/id/ENST00000965593.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000635652.1", "url": "https://www.ensembl.org/id/ENSP00000635652.1" } ] } }, { "isoform_ac": "P35573-2", "url": "https://www.uniprot.org/uniprotkb/P35573/entry#P35573-2", "sequence": { "sequence": "MSLLTCAFYLGYELQFRLGPTLQGKAVTVYTNYPFPGETFNREKFRSLDWENPTEREDDSDKYCKLNLQQSGSFQYYFLQGNEKSGGGYIVVDPILRVGADNHVLPLDCVTLQTFLAKCLGPFDEWESRLRVAKESGYNMIHFTPLQTLGLSRSCYSLANQLELNPDFSRPNRKYTWNDVGQLVEKLKKEWNVICITDVVYNHTAANSKWIQEHPECAYNLVNSPHLKPAWVLDRALWRFSCDVAEGKYKEKGIPALIENDHHMNSIRKIIWEDIFPKLKLWEFFQVDVNKAVEQFRRLLTQENRRVTKSDPNQHLTIIQDPEYRRFGCTVDMNIALTTFIPHDKGPAAIEECCNWFHKRMEELNSEKHRLINYHQEQAVNCLLGNVFYERLAGHGPKLGPVTRKHPLVTRYFTFPFEEIDFSMEESMIHLPNKACFLMAHNGWVMGDDPLRNFAEPGSEVYLRRELICWGDSVKLRYGNKPEDCPYLWAHMKKYTEITATYFQGVRLDNCHSTPLHVAEYMLDAARNLQPNLYVVAELFTGSEDLDNVFVTRLGISSLIREAMSAYNSHEEGRLVYRYGGEPVGSFVQPCLRPLMPAIAHALFMDITHDNECPIVHRSAYDALPSTTIVSMACCASGSTRGYDELVPHQISVVSEERFYTKWNPEALPSNTGEVNFQSGIIAARCAISKLHQELGAKGFIQVYVDQVDEDIVAVTRHSPSIHQSVVAVSRTAFRNPKTSFYSKEVPQMCIPGKIEEVVLEARTIERNTKPYRKDENSINGTPDITVEIREHIQLNESKIVKQAGVATKGPNEYIQEIEFENLSPGSVIIFRVSLDPHAQVAVGILRNHLTQFSPHFKSGSLAVDNADPILKIPFASLASRLTLAELNQILYRCESEEKEDGGGCYDIPNWSALKYAGLQGLMSVLAEIRPKNDLGHPFCNNLRSGDWMIDYVSNRLISRSGTIAEVGKWLQAMFFYLKQIPRYLIPCYFDAILIGAYTTLLDTAWKQMSSFVQNGSTFVKHLSLGSVQLCGVGKFPSLPILSPALMDVPYRLNEITKEKEQCCVSLAAGLPHFSSGIFRCWGRDTFIALRGILLITGRYVEARNIILAFAGTLRHGLIPNLLGEGIYARYNCRDAVWWWLQCIQDYCKMVPNGLDILKCPVSRMYPTDDSAPLPAGTLDQPLFEVIQEAMQKHMQGIQFRERNAGPQIDRNMKDEGFNITAGVDEETGFVYGGNRFNCGTWMDKMGESDRARNRGIPATPRDGSAVEIVGLSKSAVRWLLELSKKNIFPYHEVTVKRHGKAIKVSYDEWNRKIQDNFEKLFHVSEDPSDLNEKHPNLVHKRGIYKDSYGASSPWCDYQLRPNFTIAMVVAPELFTTEKAWKALEIAEKKLLGPLGMKTLDPDDMVYCGIYDNALDNDNYNLAKGFNYHQGPEWLWPIGYFLRAKLYFSRLMGPETTAKTIVLVKNVLSRHYVHLERSPWKGLPELTNENAQYCPFSCETQAWSIATILETLYDL", "length": 1515, "header": "sp|P35573-2|GDE_HUMAN Isoform 2 of Glycogen debranching enzyme OS=Homo sapiens OX=9606 GN=AGL PE=1 SV=3 CANONICAL=P35573-1" }, "locus": {} }, { "isoform_ac": "P35573-3", "url": "https://www.uniprot.org/uniprotkb/P35573/entry#P35573-3", "sequence": { "sequence": "MAPILSINLFIGYELQFRLGPTLQGKAVTVYTNYPFPGETFNREKFRSLDWENPTEREDDSDKYCKLNLQQSGSFQYYFLQGNEKSGGGYIVVDPILRVGADNHVLPLDCVTLQTFLAKCLGPFDEWESRLRVAKESGYNMIHFTPLQTLGLSRSCYSLANQLELNPDFSRPNRKYTWNDVGQLVEKLKKEWNVICITDVVYNHTAANSKWIQEHPECAYNLVNSPHLKPAWVLDRALWRFSCDVAEGKYKEKGIPALIENDHHMNSIRKIIWEDIFPKLKLWEFFQVDVNKAVEQFRRLLTQENRRVTKSDPNQHLTIIQDPEYRRFGCTVDMNIALTTFIPHDKGPAAIEECCNWFHKRMEELNSEKHRLINYHQEQAVNCLLGNVFYERLAGHGPKLGPVTRKHPLVTRYFTFPFEEIDFSMEESMIHLPNKACFLMAHNGWVMGDDPLRNFAEPGSEVYLRRELICWGDSVKLRYGNKPEDCPYLWAHMKKYTEITATYFQGVRLDNCHSTPLHVAEYMLDAARNLQPNLYVVAELFTGSEDLDNVFVTRLGISSLIREAMSAYNSHEEGRLVYRYGGEPVGSFVQPCLRPLMPAIAHALFMDITHDNECPIVHRSAYDALPSTTIVSMACCASGSTRGYDELVPHQISVVSEERFYTKWNPEALPSNTGEVNFQSGIIAARCAISKLHQELGAKGFIQVYVDQVDEDIVAVTRHSPSIHQSVVAVSRTAFRNPKTSFYSKEVPQMCIPGKIEEVVLEARTIERNTKPYRKDENSINGTPDITVEIREHIQLNESKIVKQAGVATKGPNEYIQEIEFENLSPGSVIIFRVSLDPHAQVAVGILRNHLTQFSPHFKSGSLAVDNADPILKIPFASLASRLTLAELNQILYRCESEEKEDGGGCYDIPNWSALKYAGLQGLMSVLAEIRPKNDLGHPFCNNLRSGDWMIDYVSNRLISRSGTIAEVGKWLQAMFFYLKQIPRYLIPCYFDAILIGAYTTLLDTAWKQMSSFVQNGSTFVKHLSLGSVQLCGVGKFPSLPILSPALMDVPYRLNEITKEKEQCCVSLAAGLPHFSSGIFRCWGRDTFIALRGILLITGRYVEARNIILAFAGTLRHGLIPNLLGEGIYARYNCRDAVWWWLQCIQDYCKMVPNGLDILKCPVSRMYPTDDSAPLPAGTLDQPLFEVIQEAMQKHMQGIQFRERNAGPQIDRNMKDEGFNITAGVDEETGFVYGGNRFNCGTWMDKMGESDRARNRGIPATPRDGSAVEIVGLSKSAVRWLLELSKKNIFPYHEVTVKRHGKAIKVSYDEWNRKIQDNFEKLFHVSEDPSDLNEKHPNLVHKRGIYKDSYGASSPWCDYQLRPNFTIAMVVAPELFTTEKAWKALEIAEKKLLGPLGMKTLDPDDMVYCGIYDNALDNDNYNLAKGFNYHQGPEWLWPIGYFLRAKLYFSRLMGPETTAKTIVLVKNVLSRHYVHLERSPWKGLPELTNENAQYCPFSCETQAWSIATILETLYDL", "length": 1516, "header": "sp|P35573-3|GDE_HUMAN Isoform 3 of Glycogen debranching enzyme OS=Homo sapiens OX=9606 GN=AGL PE=1 SV=3 CANONICAL=P35573-1" }, "locus": { "chromosome": "1", "start_pos": 99921648, "end_pos": 99852670, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000370161.6", "url": "https://www.ensembl.org/id/ENST00000370161.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000359180.2", "url": "https://www.ensembl.org/id/ENSP00000359180.2" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 1130, "start_aa": "Thr", "end_pos": 1130, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1130", "evidence": [ { "id": "30397120", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30397120" }, { "id": "P35573", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P35573" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" }, { "id": "P35573", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P35573" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 1474, "start_aa": "Thr", "end_pos": 1474, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1474", "evidence": [ { "id": "30397120", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30397120" }, { "id": "P35573", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P35573" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" }, { "id": "P35573", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P35573" } ] } ], "phosphorylation": [ { "start_pos": 1477, "end_pos": 1477, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "IEDB", "id": "P35573", "url": "https://www.iedb.org/epitope/P35573" }, { "database": "iPTMnet", "id": "P35573", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P35573" }, { "database": "PubMed", "id": "32387766", "url": "https://glygen.org/publication/PubMed/32387766" } ], "site_lbl": "Thr1477" }, { "start_pos": 584, "end_pos": 584, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P35573", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P35573" }, { "database": "PubMed", "id": "18083107", "url": "https://glygen.org/publication/PubMed/18083107" } ], "site_lbl": "Tyr584" }, { "start_pos": 64, "end_pos": 64, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P35573", "url": "https://www.uniprot.org/uniprotkb/P35573" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "P35573", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P35573" } ], "site_lbl": "Ser64" } ], "glycation": [], "keywords": [ "enzyme", "glycohydrolase-activity", "glycosyltransferase-activity", "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Phosphorylase kinase: the complexity of its regulation is reflected in the complexity of its structure.", "journal": "Frontiers in bioscience : a journal and virtual library", "date": "1999", "authors": "Brushia RJ, Walsh DA", "evidence": [ { "database": "Reactome", "id": "R-HSA-70221", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70221" } ], "reference": [ { "type": "PubMed", "id": "10487978", "url": "https://glygen.org/publication/PubMed/10487978" } ] }, { "title": "Glycogen storage disease type IIIa: first report of a causative missense mutation (G1448R) of the glycogen debranching enzyme gene found in a homozygous patient.", "journal": "Human mutation", "date": "1999", "authors": "Okubo M, Kanda F, Horinishi A, Takahashi K, Okuda S, Chihara K, Murase T", "evidence": [ { "database": "UniProtKB", "id": "P35573", "url": "https://www.uniprot.org/uniprotkb/P35573" }, { "database": "dbSNP", "id": "rs118203964", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs118203964" } ], "reference": [ { "type": "PubMed", "id": "10571954", "url": "https://glygen.org/publication/PubMed/10571954" } ] }, { "title": "Genotype-phenotype correlation in two frequent mutations and mutation update in type III glycogen storage disease.", "journal": "Molecular genetics and metabolism", "date": "2000-01", "authors": "Shaiu W L, Kishnani P S, Shen J, Liu H M, Chen Y T", "evidence": [ { "database": "dbSNP", "id": "rs113994132", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs113994132" } ], "reference": [ { "type": "PubMed", "id": "10655153", "url": "https://glygen.org/publication/PubMed/10655153" } ] }, { "title": "Compound heterozygous patient with glycogen storage disease type III: identification of two novel AGL mutations, a donor splice site mutation of Chinese origin and a 1-bp deletion of Japanese origin.", "journal": "American journal of medical genetics", "date": "2000-07-31", "authors": "Okubo M, Horinishi A, Suzuki Y, Murase T, Hayasaka K", "evidence": [ { "database": "dbSNP", "id": "rs387906246", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs387906246" } ], "reference": [ { "type": "PubMed", "id": "10925384", "url": "https://glygen.org/publication/PubMed/10925384" } ] }, { "title": "Activation of human liver glycogen phosphorylase by alteration of the secondary structure and packing of the catalytic core.", "journal": "Molecular cell", "date": "2000", "authors": "Rath VL, Ammirati M, LeMotte PK, Fennell KF, Mansour MN, Danley DE, Hynes TR, Schulte GK, Wasilko DJ, Pandit J", "evidence": [ { "database": "Reactome", "id": "R-HSA-70221", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70221" } ], "reference": [ { "type": "PubMed", "id": "10949035", "url": "https://glygen.org/publication/PubMed/10949035" } ] }, { "title": "Heterogeneous mutations in the glycogen-debranching enzyme gene are responsible for glycogen storage disease type IIIa in Japan.", "journal": "Hum. Genet.", "date": "2000", "authors": "Okubo M, Horinishi A, Takeuchi M, Suzuki Y, Sakura N, Hasegawa Y, Igarashi T, Goto K, Tahara H, Uchimoto S, Omichi K, Kanno H, Hayasaka K, Murase T", "evidence": [ { "database": "UniProtKB", "id": "P35573", "url": "https://www.uniprot.org/uniprotkb/P35573" } ], "reference": [ { "type": "PubMed", "id": "10982190", "url": "https://glygen.org/publication/PubMed/10982190" } ] }, { "title": "Initial sequencing and analysis of the human genome.", "journal": "Nature", "date": "2001", "authors": "Lander ES, Linton LM, Birren B, Nusbaum C, Zody MC, Baldwin J, Devon K, Dewar K, Doyle M, FitzHugh W, Funke R, Gage D, Harris K, Heaford A, Howland J, Kann L, Lehoczky J, LeVine R, McEwan P, McKernan K, Meldrim J, Mesirov JP, Miranda C, Morris W, Naylor J, Raymond C, Rosetti M, Santos R, Sheridan A, Sougnez C, Stange-Thomann Y, Stojanovic N, Subramanian A, Wyman D, Rogers J, Sulston J, Ainscough R, Beck S, Bentley D, Burton J, Clee C, Carter N, Coulson A, Deadman R, Deloukas P, Dunham A, Dunham I, Durbin R, French L, Grafham D, Gregory S, Hubbard T, Humphray S, Hunt A, Jones M, Lloyd C, McMurray A, Matthews L, Mercer S, Milne S, Mullikin JC, Mungall A, Plumb R, Ross M, Shownkeen R, Sims S, Waterston RH, Wilson RK, Hillier LW, McPherson JD, Marra MA, Mardis ER, Fulton LA, Chinwalla AT, Pepin KH, Gish WR, Chissoe SL, Wendl MC, Delehaunty KD, Miner TL, Delehaunty A, Kramer JB, Cook LL, Fulton RS, Johnson DL, Minx PJ, Clifton SW, Hawkins T, Branscomb E, Predki P, Richardson P, Wenning S, Slezak T, Doggett N, Cheng JF, Olsen A, Lucas S, Elkin C, Uberbacher E, Frazier M, Gibbs RA, Muzny DM, Scherer SE, Bouck JB, Sodergren EJ, Worley KC, Rives CM, Gorrell JH, Metzker ML, Naylor SL, Kucherlapati RS, Nelson DL, Weinstock GM, Sakaki Y, Fujiyama A, Hattori M, Yada T, Toyoda A, Itoh T, Kawagoe C, Watanabe H, Totoki Y, Taylor T, Weissenbach J, Heilig R, Saurin W, Artiguenave F, Brottier P, Bruls T, Pelletier E, Robert C, Wincker P, Smith DR, Doucette-Stamm L, Rubenfield M, Weinstock K, Lee HM, Dubois J, Rosenthal A, Platzer M, Nyakatura G, Taudien S, Rump A, Yang H, Yu J, Wang J, Huang G, Gu J, Hood L, Rowen L, Madan A, Qin S, Davis RW, Federspiel NA, Abola AP, Proctor MJ, Myers RM, Schmutz J, Dickson M, Grimwood J, Cox DR, Olson MV, Kaul R, Raymond C, Shimizu N, Kawasaki K, Minoshima S, Evans GA, Athanasiou M, Schultz R, Roe BA, Chen F, Pan H, Ramser J, Lehrach H, Reinhardt R, McCombie WR, de la Bastide M, Dedhia N, Blocker H, Hornischer K, Nordsiek G, Agarwala R, Aravind L, Bailey JA, Bateman A, Batzoglou S, Birney E, Bork P, Brown DG, Burge CB, Cerutti L, Chen HC, Church D, Clamp M, Copley RR, Doerks T, Eddy SR, Eichler EE, Furey TS, Galagan J, Gilbert JG, Harmon C, Hayashizaki Y, Haussler D, Hermjakob H, Hokamp K, Jang W, Johnson LS, Jones TA, Kasif S, Kaspryzk A, Kennedy S, Kent WJ, Kitts P, Koonin EV, Korf I, Kulp D, Lancet D, Lowe TM, McLysaght A, Mikkelsen T, Moran JV, Mulder N, Pollara VJ, Ponting CP, Schuler G, Schultz J, Slater G, Smit AF, Stupka E, Szustakowki J, Thierry-Mieg D, Thierry-Mieg J, Wagner L, Wallis J, Wheeler R, Williams A, Wolf YI, Wolfe KH, Yang SP, Yeh RF, Collins F, Guyer MS, Peterson J, Felsenfeld A, Wetterstrand KA, Patrinos A, Morgan MJ, de Jong P, Catanese JJ, Osoegawa K, Shizuya H, Choi S, Chen YJ, Szustakowki J", "evidence": [ { "database": "UniProtKB", "id": "A0A1C7CYW1", "url": "https://www.uniprot.org/uniprotkb/A0A1C7CYW1" } ], "reference": [ { "type": "PubMed", "id": "11237011", "url": "https://glygen.org/publication/PubMed/11237011" } ] }, { "title": "Molecular genetic basis and prevalence of glycogen storage disease type IIIA in the Faroe Islands.", "journal": "European journal of human genetics : EJHG", "date": "2001-05", "authors": "Santer R, Kinner M, Steuerwald U, Kjaergaard S, Skovby F, Simonsen H, Shaiu W L, Chen Y T, Schneppenheim R, Schaub J", "evidence": [ { "database": "dbSNP", "id": "rs113994128", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs113994128" } ], "reference": [ { "type": "PubMed", "id": "11378828", "url": "https://glygen.org/publication/PubMed/11378828" } ] }, { "title": "Human testis specific protein: a new member of aldo-keto reductase superfamily.", "journal": "Chemico-biological interactions", "date": "2003-02-01", "authors": "Nishinaka Toru, Azuma Yutaro, Ushijima So, Miki Tsuneharu, Yabe-Nishimura Chihiro", "evidence": [ { "database": "Reactome", "id": "R-HSA-70221", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70221" } ], "reference": [ { "type": "PubMed", "id": "12604216", "url": "https://glygen.org/publication/PubMed/12604216" } ] }, { "title": "Muscle glycogenosis with low phosphorylase kinase activity: mutations in PHKA1, PHKG1 or six other candidate genes explain only a minority of cases.", "journal": "European journal of human genetics : EJHG", "date": "2003", "authors": "Burwinkel B, Hu B, Schroers A, Clemens PR, Moses SW, Shin YS, Pongratz D, Vorgerd M, Kilimann MW", "evidence": [ { "database": "Reactome", "id": "R-HSA-70221", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70221" } ], "reference": [ { "type": "PubMed", "id": "12825073", "url": "https://glygen.org/publication/PubMed/12825073" } ] }, { "title": "Severe phenotype of phosphorylase kinase-deficient liver glycogenosis with mutations in the PHKG2 gene.", "journal": "Pediatric research", "date": "2003", "authors": "Burwinkel B, Rootwelt T, Kvittingen EA, Chakraborty PK, Kilimann MW", "evidence": [ { "database": "Reactome", "id": "R-HSA-70221", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70221" } ], "reference": [ { "type": "PubMed", "id": "12930917", "url": "https://glygen.org/publication/PubMed/12930917" } ] }, { "title": "Enzymic conversion of phosphorylase a to phosphorylase b.", "journal": "Biochimica et biophysica acta", "date": "1953", "authors": "KELLER PJ, CORI GT", "evidence": [ { "database": "Reactome", "id": "R-HSA-70221", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70221" } ], "reference": [ { "type": "PubMed", "id": "13115432", "url": "https://glygen.org/publication/PubMed/13115432" } ] }, { "title": "Molecular cloning and nucleotide sequence of cDNA encoding human muscle glycogen debranching enzyme.", "journal": "J. Biol. Chem.", "date": "1992", "authors": "Yang BZ, Ding JH, Enghild JJ, Bao Y, Chen YT", "evidence": [ { "database": "UniProtKB", "id": "P35573", "url": "https://www.uniprot.org/uniprotkb/P35573" } ], "reference": [ { "type": "PubMed", "id": "1374391", "url": "https://glygen.org/publication/PubMed/1374391" } ] }, { "title": "Characterization of htAKR, a novel gene product in the aldo-keto reductase family specifically expressed in human testis.", "journal": "Molecular human reproduction", "date": "2004", "authors": "Azuma Y, Nishinaka T, Ushijima S, Soh J, Katsuyama M, Lu HP, Kawata M, Yabe-Nishimura C, Miki T", "evidence": [ { "database": "Reactome", "id": "R-HSA-70221", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70221" } ], "reference": [ { "type": "PubMed", "id": "15118078", "url": "https://glygen.org/publication/PubMed/15118078" } ] }, { "title": "Shared immunoproteome for ovarian cancer diagnostics and immunotherapy: potential theranostic approach to cancer.", "journal": "Journal of proteome research", "date": "2007-07", "authors": "Philip Ramila, Murthy Sidhartha, Krakover Jonathan, Sinnathamby Gomathinayagam, Zerfass Jennifer, Keller Lorraine, Philip Mohan", "evidence": [ { "database": "IEDB", "id": "434307", "url": "https://www.iedb.org/epitope/434307" } ], "reference": [ { "type": "PubMed", "id": "17547437", "url": "https://glygen.org/publication/PubMed/17547437" } ] }, { "title": "A role for AGL ubiquitination in the glycogen storage disorders of Lafora and Cori's disease.", "journal": "Genes & development", "date": "2007", "authors": "Cheng A, Zhang M, Gentry MS, Worby CA, Dixon JE, Saltiel AR", "evidence": [ { "database": "UniProtKB", "id": "P35573", "url": "https://www.uniprot.org/uniprotkb/P35573" }, { "database": "dbSNP", "id": "rs118203964", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs118203964" } ], "reference": [ { "type": "PubMed", "id": "17908927", "url": "https://glygen.org/publication/PubMed/17908927" } ] }, { "title": "Global survey of phosphotyrosine signaling identifies oncogenic kinases in lung cancer.", "journal": "Cell", "date": "2007", "authors": "Rikova K, Guo A, Zeng Q, Possemato A, Yu J, Haack H, Nardone J, Lee K, Reeves C, Li Y, Hu Y, Tan Z, Stokes M, Sullivan L, Mitchell J, Wetzel R, Macneill J, Ren JM, Yuan J, Bakalarski CE, Villen J, Kornhauser JM, Smith B, Li D, Zhou X, Gygi SP, Gu TL, Polakiewicz RD, Rush J, Comb MJ", "evidence": [ { "database": "iPTMnet", "id": "P35573-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P35573-1" } ], "reference": [ { "type": "PubMed", "id": "18083107", "url": "https://glygen.org/publication/PubMed/18083107" } ] }, { "title": "Mouse AKR1E1 is an ortholog of pig liver NADPH dependent 1,5-anhydro-D-fructose reductase.", "journal": "Bioscience, biotechnology, and biochemistry", "date": "2008", "authors": "Sakuma M, Kubota S", "evidence": [ { "database": "Reactome", "id": "R-HSA-70221", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70221" } ], "reference": [ { "type": "PubMed", "id": "18323634", "url": "https://glygen.org/publication/PubMed/18323634" } ] }, { "title": "Distinct mutations in the glycogen debranching enzyme found in glycogen storage disease type III lead to impairment in diverse cellular functions.", "journal": "Human molecular genetics", "date": "2009-06-01", "authors": "Cheng Alan, Zhang Mei, Okubo Minoru, Omichi Kaoru, Saltiel Alan R", "evidence": [ { "database": "dbSNP", "id": "rs267606639", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs267606639" } ], "reference": [ { "type": "PubMed", "id": "19299494", "url": "https://glygen.org/publication/PubMed/19299494" } ] }, { "title": "Molecular features of 23 patients with glycogen storage disease type III in Turkey: a novel mutation p.R1147G associated with isolated glucosidase deficiency, along with 9 AGL mutations.", "journal": "Journal of human genetics", "date": "2009-11", "authors": "Aoyama Yoshiko, Ozer Isil, Demirkol Mubeccel, Ebara Tetsu, Murase Toshio, Podskarbi Teodor, Shin Yoon S, Gokcay Gulden, Okubo Minoru", "evidence": [ { "database": "dbSNP", "id": "rs267606639", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs267606639" }, { "database": "dbSNP", "id": "rs267606640", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs267606640" } ], "reference": [ { "type": "PubMed", "id": "19834502", "url": "https://glygen.org/publication/PubMed/19834502" } ] }, { "title": "Specific functions of lysosomal proteases in endocytic and autophagic pathways.", "journal": "Biochimica et biophysica acta", "date": "2012", "authors": "Muller S, Dennemarker J, Reinheckel T", "evidence": [ { "database": "Reactome", "id": "R-HSA-70221", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70221" } ], "reference": [ { "type": "PubMed", "id": "21767668", "url": "https://glygen.org/publication/PubMed/21767668" } ] }, { "title": "The human leukocyte antigen-presented ligandome of B lymphocytes.", "journal": "Molecular & cellular proteomics : MCP", "date": "2013-07", "authors": "Hassan Chopie, Kester Michel G D, de Ru Arnoud H, Hombrink Pleun, Drijfhout Jan Wouter, Nijveen Harm, Leunissen Jack A M, Heemskerk Mirjam H M, Falkenburg J H Frederik, van Veelen Peter A", "evidence": [ { "database": "IEDB", "id": "434307", "url": "https://www.iedb.org/epitope/434307" }, { "database": "IEDB", "id": "455600", "url": "https://www.iedb.org/epitope/455600" }, { "database": "IEDB", "id": "458997", "url": "https://www.iedb.org/epitope/458997" } ], "reference": [ { "type": "PubMed", "id": "23481700", "url": "https://glygen.org/publication/PubMed/23481700" } ] }, { "title": "Proteome profiling of human neutrophil granule subsets, secretory vesicles, and cell membrane: correlation with transcriptome profiling of neutrophil precursors.", "journal": "Journal of leukocyte biology", "date": "2013", "authors": "Rorvig S, Ostergaard O, Heegaard NH, Borregaard N", "evidence": [ { "database": "Reactome", "id": "R-HSA-6798695", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6798695" } ], "reference": [ { "type": "PubMed", "id": "23650620", "url": "https://glygen.org/publication/PubMed/23650620" } ] }, { "title": "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.", "journal": "Journal of proteomics", "date": "2014", "authors": "Bian Y, Song C, Cheng K, Dong M, Wang F, Huang J, Sun D, Wang L, Ye M, Zou H", "evidence": [ { "database": "UniProtKB", "id": "P35573", "url": "https://www.uniprot.org/uniprotkb/P35573" }, { "database": "iPTMnet", "id": "P35573", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P35573" } ], "reference": [ { "type": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ] }, { "title": "Impact of genomic polymorphisms on the repertoire of human MHC class I-associated peptides.", "journal": "Nature communications", "date": "2014-04-09", "authors": "Granados Diana Paola, Sriranganadane Dev, Daouda Tariq, Zieger Antoine, Laumont C\u00e9line M, Caron-Lizotte Olivier, Boucher Genevi\u00e8ve, Hardy Marie-Pierre, Gendron Patrick, C\u00f4t\u00e9 Caroline, Lemieux S\u00e9bastien, Thibault Pierre, Perreault Claude", "evidence": [ { "database": "IEDB", "id": "203173", "url": "https://www.iedb.org/epitope/203173" } ], "reference": [ { "type": "PubMed", "id": "24714562", "url": "https://glygen.org/publication/PubMed/24714562" } ] }, { "title": "The nature and extent of contributions by defective ribosome products to the HLA peptidome.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2014-04-22", "authors": "Bourdetsky Dmitry, Schmelzer Christian E H, Admon Arie", "evidence": [ { "database": "IEDB", "id": "434307", "url": "https://www.iedb.org/epitope/434307" }, { "database": "IEDB", "id": "444084", "url": "https://www.iedb.org/epitope/444084" }, { "database": "IEDB", "id": "504223", "url": "https://www.iedb.org/epitope/504223" }, { "database": "IEDB", "id": "507869", "url": "https://www.iedb.org/epitope/507869" }, { "database": "IEDB", "id": "508308", "url": "https://www.iedb.org/epitope/508308" } ], "reference": [ { "type": "PubMed", "id": "24715725", "url": "https://glygen.org/publication/PubMed/24715725" } ] }, { "title": "Revisiting the arthritogenic peptide theory: quantitative not qualitative changes in the peptide repertoire of HLA-B27 allotypes.", "journal": "Arthritis & rheumatology (Hoboken, N.J.)", "date": "2015-03", "authors": "Schittenhelm Ralf B, Sian Terry C C Lim Kam, Wilmann Pascal G, Dudek Nadine L, Purcell Anthony W", "evidence": [ { "database": "IEDB", "id": "444084", "url": "https://www.iedb.org/epitope/444084" }, { "database": "IEDB", "id": "490524", "url": "https://www.iedb.org/epitope/490524" }, { "database": "IEDB", "id": "491139", "url": "https://www.iedb.org/epitope/491139" }, { "database": "IEDB", "id": "495200", "url": "https://www.iedb.org/epitope/495200" } ], "reference": [ { "type": "PubMed", "id": "25418920", "url": "https://glygen.org/publication/PubMed/25418920" } ] }, { "title": "Mass spectrometry of human leukocyte antigen class I peptidomes reveals strong effects of protein abundance and turnover on antigen presentation.", "journal": "Molecular & cellular proteomics : MCP", "date": "2015-03", "authors": "Bassani-Sternberg Michal, Pletscher-Frankild Sune, Jensen Lars Juhl, Mann Matthias", "evidence": [ { "database": "IEDB", "id": "434307", "url": "https://www.iedb.org/epitope/434307" }, { "database": "IEDB", "id": "467653", "url": "https://www.iedb.org/epitope/467653" }, { "database": "IEDB", "id": "481089", "url": "https://www.iedb.org/epitope/481089" } ], "reference": [ { "type": "PubMed", "id": "25576301", "url": "https://glygen.org/publication/PubMed/25576301" } ] }, { "title": "Exploration of peptides bound to MHC class I molecules in melanoma.", "journal": "Pigment cell & melanoma research", "date": "2015-05", "authors": "Pritchard Antonia L, Hastie Marcus L, Neller Michelle, Gorman Jeffrey J, Schmidt Chris W, Hayward Nicholas K", "evidence": [ { "database": "IEDB", "id": "458997", "url": "https://www.iedb.org/epitope/458997" }, { "database": "IEDB", "id": "467653", "url": "https://www.iedb.org/epitope/467653" }, { "database": "IEDB", "id": "546229", "url": "https://www.iedb.org/epitope/546229" } ], "reference": [ { "type": "PubMed", "id": "25645385", "url": "https://glygen.org/publication/PubMed/25645385" } ] }, { "title": "Endoplasmic Reticulum Aminopeptidase 1 (ERAP1) Polymorphism Relevant to Inflammatory Disease Shapes the Peptidome of the Birdshot Chorioretinopathy-Associated HLA-A*29:02 Antigen.", "journal": "Molecular & cellular proteomics : MCP", "date": "2015-07", "authors": "Alvarez-Navarro Carlos, Mart\u00edn-Esteban Adrian, Barnea Eilon, Admon Arie, L\u00f3pez de Castro Jos\u00e9 A", "evidence": [ { "database": "IEDB", "id": "428753", "url": "https://www.iedb.org/epitope/428753" } ], "reference": [ { "type": "PubMed", "id": "25892735", "url": "https://glygen.org/publication/PubMed/25892735" } ] }, { "title": "An open-source computational and data resource to analyze digital maps of immunopeptidomes.", "journal": "eLife", "date": "2015-07-08", "authors": "Caron Etienne, Espona Lucia, Kowalewski Daniel J, Schuster Heiko, Ternette Nicola, Alp\u00edzar Ad\u00e1n, Schittenhelm Ralf B, Ramarathinam Sri H, Lindestam Arlehamn Cecilia S, Chiek Koh Ching, Gillet Ludovic C, Rabsteyn Armin, Navarro Pedro, Kim Sangtae, Lam Henry, Sturm Theo, Marcilla Miguel, Sette Alessandro, Campbell David S, Deutsch Eric W, Moritz Robert L, Purcell Anthony W, Rammensee Hans-Georg, Stevanovic Stefan, Aebersold Ruedi", "evidence": [ { "database": "IEDB", "id": "434307", "url": "https://www.iedb.org/epitope/434307" }, { "database": "IEDB", "id": "444084", "url": "https://www.iedb.org/epitope/444084" } ], "reference": [ { "type": "PubMed", "id": "26154972", "url": "https://glygen.org/publication/PubMed/26154972" } ] }, { "title": "The family of glycogen phosphorylases: structure and function.", "journal": "Critical reviews in biochemistry and molecular biology", "date": "1989", "authors": "Newgard CB, Hwang PK, Fletterick RJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-70221", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70221" } ], "reference": [ { "type": "PubMed", "id": "2667896", "url": "https://glygen.org/publication/PubMed/2667896" } ] }, { "title": "Comparative Analysis of the Endogenous Peptidomes Displayed by HLA-B*27 and Mamu-B*08: Two MHC Class I Alleles Associated with Elite Control of HIV/SIV Infection.", "journal": "Journal of proteome research", "date": "2016-03-04", "authors": "Marcilla Miguel, Alvarez I\u00f1aki, Ramos-Fern\u00e1ndez Antonio, Lombard\u00eda Manuel, Paradela Alberto, Albar Juan Pablo", "evidence": [ { "database": "IEDB", "id": "517357", "url": "https://www.iedb.org/epitope/517357" } ], "reference": [ { "type": "PubMed", "id": "26811146", "url": "https://glygen.org/publication/PubMed/26811146" } ] }, { "title": "Metabolic phenotype of bladder cancer.", "journal": "Cancer treatment reviews", "date": "2016", "authors": "Massari F, Ciccarese C, Santoni M, Iacovelli R, Mazzucchelli R, Piva F, Scarpelli M, Berardi R, Tortora G, Lopez-Beltran A, Cheng L, Montironi R", "evidence": [ { "database": "RefSeq", "id": "NP_000019", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000019" } ], "reference": [ { "type": "PubMed", "id": "26975021", "url": "https://glygen.org/publication/PubMed/26975021" } ] }, { "title": "Spectrum of AGL mutations in Chinese patients with glycogen storage disease type III: identification of 31 novel mutations.", "journal": "Journal of human genetics", "date": "2016", "authors": "Lu C, Qiu Z, Sun M, Wang W, Wei M, Zhang X", "evidence": [ { "database": "RefSeq", "id": "NP_000019", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000019" } ], "reference": [ { "type": "PubMed", "id": "26984562", "url": "https://glygen.org/publication/PubMed/26984562" } ] }, { "title": "High-sensitivity HLA class I peptidome analysis enables a precise definition of peptide motifs and the identification of peptides from cell lines and patients' sera.", "journal": "Proteomics", "date": "2016-05", "authors": "Ritz Danilo, Gloger Andreas, Weide Benjamin, Garbe Claus, Neri Dario, Fugmann Tim", "evidence": [ { "database": "IEDB", "id": "467653", "url": "https://www.iedb.org/epitope/467653" }, { "database": "IEDB", "id": "617207", "url": "https://www.iedb.org/epitope/617207" }, { "database": "IEDB", "id": "623929", "url": "https://www.iedb.org/epitope/623929" } ], "reference": [ { "type": "PubMed", "id": "26992070", "url": "https://glygen.org/publication/PubMed/26992070" } ] }, { "title": "A large fraction of HLA class I ligands are proteasome-generated spliced peptides.", "journal": "Science (New York, N.Y.)", "date": "2016-10-21", "authors": "Liepe Juliane, Marino Fabio, Sidney John, Jeko Anita, Bunting Daniel E, Sette Alessandro, Kloetzel Peter M, Stumpf Michael P H, Heck Albert J R, Mishto Michele", "evidence": [ { "database": "IEDB", "id": "508308", "url": "https://www.iedb.org/epitope/508308" }, { "database": "IEDB", "id": "517357", "url": "https://www.iedb.org/epitope/517357" }, { "database": "IEDB", "id": "589834", "url": "https://www.iedb.org/epitope/589834" } ], "reference": [ { "type": "PubMed", "id": "27846572", "url": "https://glygen.org/publication/PubMed/27846572" } ] }, { "title": "Synthesis of a Highly Azide-Reactive and Thermosensitive Biofunctional Reagent for Efficient Enrichment and Large-Scale Identification of O-GlcNAc Proteins by Mass Spectrometry.", "journal": "Analytical chemistry", "date": "2017", "authors": "Zhang W, Liu T, Dong H, Bai H, Tian F, Shi Z, Chen M, Wang J, Qin W, Qian X", "evidence": [ { "database": "O-GlcNAc Database", "id": "P35573", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P35573" } ], "reference": [ { "type": "PubMed", "id": "28510447", "url": "https://glygen.org/publication/PubMed/28510447" } ] }, { "title": "Unveiling the Peptide Motifs of HLA-C and HLA-G from Naturally Presented Peptides and Generation of Binding Prediction Matrices.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2017-10-15", "authors": "Di Marco Moreno, Schuster Heiko, Backert Linus, Ghosh Michael, Rammensee Hans-Georg, Stevanovi\u0107 Stefan", "evidence": [ { "database": "IEDB", "id": "444084", "url": "https://www.iedb.org/epitope/444084" }, { "database": "IEDB", "id": "704854", "url": "https://www.iedb.org/epitope/704854" }, { "database": "IEDB", "id": "719403", "url": "https://www.iedb.org/epitope/719403" }, { "database": "IEDB", "id": "724473", "url": "https://www.iedb.org/epitope/724473" } ], "reference": [ { "type": "PubMed", "id": "28904123", "url": "https://glygen.org/publication/PubMed/28904123" } ] }, { "title": "Identification of Native and Posttranslationally Modified HLA-B*57:01-Restricted HIV Envelope Derived Epitopes Using Immunoproteomics.", "journal": "Proteomics", "date": "2018-06", "authors": "Ramarathinam Sri H, Gras Stephanie, Alcantara Sheilajen, Yeung Amanda W S, Mifsud Nicole A, Sonza Secondo, Illing Patricia T, Glaros Elias N, Center Robert J, Thomas Shane R, Kent Stephen J, Ternette Nicola, Purcell Damian F J, Rossjohn Jamie, Purcell Anthony W", "evidence": [ { "database": "IEDB", "id": "597435", "url": "https://www.iedb.org/epitope/597435" }, { "database": "IEDB", "id": "598605", "url": "https://www.iedb.org/epitope/598605" } ], "reference": [ { "type": "PubMed", "id": "29437277", "url": "https://glygen.org/publication/PubMed/29437277" } ] }, { "title": "T-Cell Immunopeptidomes Reveal Cell Subtype Surface Markers Derived From Intracellular Proteins.", "journal": "Proteomics", "date": "2018-06", "authors": "Olsson Niclas, Schultz Liora M, Zhang Lichao, Khodadoust Michael S, Narayan Rupa, Czerwinski Debra K, Levy Ronald, Elias Joshua E", "evidence": [ { "database": "IEDB", "id": "508308", "url": "https://www.iedb.org/epitope/508308" }, { "database": "IEDB", "id": "573198", "url": "https://www.iedb.org/epitope/573198" }, { "database": "IEDB", "id": "617207", "url": "https://www.iedb.org/epitope/617207" } ], "reference": [ { "type": "PubMed", "id": "29493099", "url": "https://glygen.org/publication/PubMed/29493099" } ] }, { "title": "The natural HLA ligandome of glioblastoma stem-like cells: antigen discovery for T cell-based immunotherapy.", "journal": "Acta neuropathologica", "date": "2018-06", "authors": "Neidert Marian Christoph, Kowalewski Daniel Johannes, Silginer Manuela, Kapolou Konstantina, Backert Linus, Freudenmann Lena Katharina, Peper Janet Kerstin, Marcu Ana, Wang Sophie Shih-Y\u00fcng, Walz Juliane Sarah, Wolpert Fabian, Rammensee Hans-Georg, Henschler Reinhard, Lamszus Katrin, Westphal Manfred, Roth Patrick, Regli Luca, Stevanovi\u0107 Stefan, Weller Michael, Eisele G\u00fcnter", "evidence": [ { "database": "IEDB", "id": "546229", "url": "https://www.iedb.org/epitope/546229" }, { "database": "IEDB", "id": "1095280", "url": "https://www.iedb.org/epitope/1095280" } ], "reference": [ { "type": "PubMed", "id": "29557506", "url": "https://glygen.org/publication/PubMed/29557506" } ] }, { "title": "Glycogen debranching enzyme: purification, antibody characterization, and immunoblot analyses of type III glycogen storage disease.", "journal": "American journal of human genetics", "date": "1987", "authors": "Chen YT, He JK, Ding JH, Brown BI", "evidence": [ { "database": "Reactome", "id": "R-HSA-70221", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70221" } ], "reference": [ { "type": "PubMed", "id": "2961257", "url": "https://glygen.org/publication/PubMed/2961257" } ] }, { "title": "Distinct Clinical and Genetic Findings in Iranian Patients With Glycogen Storage Disease Type 3.", "journal": "Journal of clinical neuromuscular disease", "date": "2018", "authors": "Nazari F, Sinaei F, Nilipour Y, Petit F, Oveisgharan S, Nassiri-Toosi M, Razzaghy-Azar M, Mahmoudi M, Nafissi S", "evidence": [ { "database": "RefSeq", "id": "NP_000019", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000019" } ], "reference": [ { "type": "PubMed", "id": "29794575", "url": "https://glygen.org/publication/PubMed/29794575" } ] }, { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "P35573", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P35573" }, { "database": "O-GlcNAc Atlas", "id": "P35573", "url": "https://oglcnac.org/atlas/detail/P35573" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "Combinatorial regulation of hepatic cytoplasmic signaling and nuclear transcriptional events by the OGT/REV-ERBalpha complex.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2018", "authors": "Berthier A, Vinod M, Porez G, Steenackers A, Alexandre J, Yamakawa N, Gheeraert C, Ploton M, Marechal X, Dubois-Chevalier J, Hovasse A, Schaeffer-Reiss C, Cianferani S, Rolando C, Bray F, Duez H, Eeckhoute J, Lefebvre T, Staels B, Lefebvre P", "evidence": [ { "database": "O-GlcNAc Database", "id": "P35573", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P35573" } ], "reference": [ { "type": "PubMed", "id": "30397120", "url": "https://glygen.org/publication/PubMed/30397120" } ] }, { "title": "HLA-B57 micropolymorphism defines the sequence and conformational breadth of the immunopeptidome.", "journal": "Nature communications", "date": "2018-11-08", "authors": "Illing Patricia T, Pymm Phillip, Croft Nathan P, Hilton Hugo G, Jojic Vladimir, Han Alex S, Mendoza Juan L, Mifsud Nicole A, Dudek Nadine L, McCluskey James, Parham Peter, Rossjohn Jamie, Vivian Julian P, Purcell Anthony W", "evidence": [ { "database": "IEDB", "id": "597435", "url": "https://www.iedb.org/epitope/597435" } ], "reference": [ { "type": "PubMed", "id": "30410026", "url": "https://glygen.org/publication/PubMed/30410026" } ] }, { "title": "The Length Distribution and Multiple Specificity of Naturally Presented HLA-I Ligands.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2018-12-15", "authors": "Gfeller David, Guillaume Philippe, Michaux Justine, Pak Hui-Song, Daniel Roy T, Racle Julien, Coukos George, Bassani-Sternberg Michal", "evidence": [ { "database": "IEDB", "id": "467653", "url": "https://www.iedb.org/epitope/467653" }, { "database": "IEDB", "id": "883916", "url": "https://www.iedb.org/epitope/883916" } ], "reference": [ { "type": "PubMed", "id": "30429286", "url": "https://glygen.org/publication/PubMed/30429286" } ] }, { "title": "Primary structure and processing of lysosomal alpha-glucosidase; homology with the intestinal sucrase-isomaltase complex.", "journal": "The EMBO journal", "date": "1988", "authors": "Hoefsloot LH, Hoogeveen-Westerveld M, Kroos MA, van Beeumen J, Reuser AJ, Oostra BA", "evidence": [ { "database": "Reactome", "id": "R-HSA-70221", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70221" } ], "reference": [ { "type": "PubMed", "id": "3049072", "url": "https://glygen.org/publication/PubMed/3049072" } ] }, { "title": "Naturally processed HLA-DR3-restricted HHV-6B peptides are recognized broadly with polyfunctional and cytotoxic CD4 T-cell responses.", "journal": "European journal of immunology", "date": "2019-08", "authors": "Becerra-Artiles Aniuska, Cruz John, Leszyk John D, Sidney John, Sette Alessandro, Shaffer Scott A, Stern Lawrence J", "evidence": [ { "database": "IEDB", "id": "847324", "url": "https://www.iedb.org/epitope/847324" } ], "reference": [ { "type": "PubMed", "id": "31020640", "url": "https://glygen.org/publication/PubMed/31020640" } ] }, { "title": "Intron retention is among six unreported AGL mutations identified in Malaysian GSD III patients.", "journal": "Genes & genomics", "date": "2019", "authors": "Abdullah IS, Teh SH, Khaidizar FD, Ngu LH, Keng WT, Yap S, Mohamed Z", "evidence": [ { "database": "RefSeq", "id": "NP_000019", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000019" } ], "reference": [ { "type": "PubMed", "id": "31028654", "url": "https://glygen.org/publication/PubMed/31028654" } ] }, { "title": "A large peptidome dataset improves HLA class I epitope prediction across most of the human population.", "journal": "Nature biotechnology", "date": "2020-02", "authors": "Sarkizova Siranush, Klaeger Susan, Le Phuong M, Li Letitia W, Oliveira Giacomo, Keshishian Hasmik, Hartigan Christina R, Zhang Wandi, Braun David A, Ligon Keith L, Bachireddy Pavan, Zervantonakis Ioannis K, Rosenbluth Jennifer M, Ouspenskaia Tamara, Law Travis, Justesen Sune, Stevens Jonathan, Lane William J, Eisenhaure Thomas, Lan Zhang Guang, Clauser Karl R, Hacohen Nir, Carr Steven A, Wu Catherine J, Keskin Derin B", "evidence": [ { "database": "IEDB", "id": "434307", "url": "https://www.iedb.org/epitope/434307" }, { "database": "IEDB", "id": "444084", "url": "https://www.iedb.org/epitope/444084" }, { "database": "IEDB", "id": "455600", "url": "https://www.iedb.org/epitope/455600" }, { "database": "IEDB", "id": "467653", "url": "https://www.iedb.org/epitope/467653" }, { "database": "IEDB", "id": "491139", "url": "https://www.iedb.org/epitope/491139" }, { "database": "IEDB", "id": "507869", "url": "https://www.iedb.org/epitope/507869" }, { "database": "IEDB", "id": "508308", "url": "https://www.iedb.org/epitope/508308" }, { "database": "IEDB", "id": "546229", "url": "https://www.iedb.org/epitope/546229" }, { "database": "IEDB", "id": "573198", "url": "https://www.iedb.org/epitope/573198" }, { "database": "IEDB", "id": "617207", "url": "https://www.iedb.org/epitope/617207" }, { "database": "IEDB", "id": "629067", "url": "https://www.iedb.org/epitope/629067" }, { "database": "IEDB", "id": "633603", "url": "https://www.iedb.org/epitope/633603" }, { "database": "IEDB", "id": "704854", "url": "https://www.iedb.org/epitope/704854" }, { "database": "IEDB", "id": "709025", "url": "https://www.iedb.org/epitope/709025" }, { "database": "IEDB", "id": "716396", "url": "https://www.iedb.org/epitope/716396" }, { "database": "IEDB", "id": "719403", "url": "https://www.iedb.org/epitope/719403" }, { "database": "IEDB", "id": "724473", "url": "https://www.iedb.org/epitope/724473" }, { "database": "IEDB", "id": "735761", "url": "https://www.iedb.org/epitope/735761" }, { "database": "IEDB", "id": "766657", "url": "https://www.iedb.org/epitope/766657" }, { "database": "IEDB", "id": "988211", "url": "https://www.iedb.org/epitope/988211" }, { "database": "IEDB", "id": "999056", "url": "https://www.iedb.org/epitope/999056" }, { "database": "IEDB", "id": "1003191", "url": "https://www.iedb.org/epitope/1003191" }, { "database": "IEDB", "id": "1016089", "url": "https://www.iedb.org/epitope/1016089" }, { "database": "IEDB", "id": "1023185", "url": "https://www.iedb.org/epitope/1023185" }, { "database": "IEDB", "id": "1024562", "url": "https://www.iedb.org/epitope/1024562" }, { "database": "IEDB", "id": "1031500", "url": "https://www.iedb.org/epitope/1031500" }, { "database": "IEDB", "id": "1042687", "url": "https://www.iedb.org/epitope/1042687" }, { "database": "IEDB", "id": "1050910", "url": "https://www.iedb.org/epitope/1050910" }, { "database": "IEDB", "id": "1055908", "url": "https://www.iedb.org/epitope/1055908" }, { "database": "IEDB", "id": "1059029", "url": "https://www.iedb.org/epitope/1059029" } ], "reference": [ { "type": "PubMed", "id": "31844290", "url": "https://glygen.org/publication/PubMed/31844290" } ] }, { "title": "Integrated proteogenomic deep sequencing and analytics accurately identify non-canonical peptides in tumor immunopeptidomes.", "journal": "Nature communications", "date": "2020-03-10", "authors": "Chong Chloe, M\u00fcller Markus, Pak HuiSong, Harnett Dermot, Huber Florian, Grun Delphine, Leleu Marion, Auger Aymeric, Arnaud Marion, Stevenson Brian J, Michaux Justine, Bilic Ilija, Hirsekorn Antje, Calviello Lorenzo, Sim\u00f3-Riudalbas Laia, Planet Evarist, Lubi\u0144ski Jan, Bry\u015bkiewicz Marta, Wiznerowicz Maciej, Xenarios Ioannis, Zhang Lin, Trono Didier, Harari Alexandre, Ohler Uwe, Coukos George, Bassani-Sternberg Michal", "evidence": [ { "database": "IEDB", "id": "434307", "url": "https://www.iedb.org/epitope/434307" }, { "database": "IEDB", "id": "444084", "url": "https://www.iedb.org/epitope/444084" }, { "database": "IEDB", "id": "467653", "url": "https://www.iedb.org/epitope/467653" }, { "database": "IEDB", "id": "573198", "url": "https://www.iedb.org/epitope/573198" }, { "database": "IEDB", "id": "629067", "url": "https://www.iedb.org/epitope/629067" }, { "database": "IEDB", "id": "633603", "url": "https://www.iedb.org/epitope/633603" }, { "database": "IEDB", "id": "895107", "url": "https://www.iedb.org/epitope/895107" } ], "reference": [ { "type": "PubMed", "id": "32157095", "url": "https://glygen.org/publication/PubMed/32157095" } ] }, { "title": "Spectrum of amyloglucosidase mutations in Asian Indian patients with Glycogen storage disease type III.", "journal": "American journal of medical genetics. Part A", "date": "2020", "authors": "Perveen S, Gupta N, Kumar M, Kaur P, Chowdhury MR, Kabra M", "evidence": [ { "database": "RefSeq", "id": "NP_000019", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000019" } ], "reference": [ { "type": "PubMed", "id": "32222031", "url": "https://glygen.org/publication/PubMed/32222031" } ] }, { "title": "Modulation of Natural HLA-B*27:05 Ligandome by Ankylosing Spondylitis-associated Endoplasmic Reticulum Aminopeptidase 2 (ERAP2).", "journal": "Molecular & cellular proteomics : MCP", "date": "2020-06", "authors": "Lorente Elena, Fontela Miguel G, Barnea Eilon, Mart\u00edn-Galiano Antonio J, Mir Carmen, Galocha Bego\u00f1a, Admon Arie, Lauzurica Pilar, L\u00f3pez Daniel", "evidence": [ { "database": "IEDB", "id": "481089", "url": "https://www.iedb.org/epitope/481089" }, { "database": "IEDB", "id": "517357", "url": "https://www.iedb.org/epitope/517357" } ], "reference": [ { "type": "PubMed", "id": "32265295", "url": "https://glygen.org/publication/PubMed/32265295" } ] }, { "title": "Immunopeptidome Analysis of HLA-DPB1 Allelic Variants Reveals New Functional Hierarchies.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2020-06-15", "authors": "van Balen Peter, Kester Michel G D, de Klerk Wendy, Crivello Pietro, Arrieta-Bola\u00f1os Esteban, de Ru Arnoud H, Jedema Inge, Mohammed Yassene, Heemskerk Mirjam H M, Fleischhauer Katharina, van Veelen Peter A, Falkenburg J H Frederik", "evidence": [ { "database": "IEDB", "id": "1150852", "url": "https://www.iedb.org/epitope/1150852" }, { "database": "IEDB", "id": "1155020", "url": "https://www.iedb.org/epitope/1155020" }, { "database": "IEDB", "id": "1173032", "url": "https://www.iedb.org/epitope/1173032" }, { "database": "IEDB", "id": "1181151", "url": "https://www.iedb.org/epitope/1181151" } ], "reference": [ { "type": "PubMed", "id": "32350084", "url": "https://glygen.org/publication/PubMed/32350084" } ] }, { "title": "Immunopeptidomic Analysis Reveals That Deamidated HLA-bound Peptides Arise Predominantly from Deglycosylated Precursors.", "journal": "Molecular & cellular proteomics : MCP", "date": "2020-07", "authors": "Mei Shutao, Ayala Rochelle, Ramarathinam Sri H, Illing Patricia T, Faridi Pouya, Song Jiangning, Purcell Anthony W, Croft Nathan P", "evidence": [ { "database": "IEDB", "id": "434307", "url": "https://www.iedb.org/epitope/434307" }, { "database": "IEDB", "id": "455600", "url": "https://www.iedb.org/epitope/455600" }, { "database": "IEDB", "id": "458997", "url": "https://www.iedb.org/epitope/458997" }, { "database": "IEDB", "id": "629067", "url": "https://www.iedb.org/epitope/629067" }, { "database": "IEDB", "id": "725396", "url": "https://www.iedb.org/epitope/725396" } ], "reference": [ { "type": "PubMed", "id": "32357974", "url": "https://glygen.org/publication/PubMed/32357974" } ] }, { "title": "In-depth mining of the immunopeptidome of an acute myeloid leukemia cell line using complementary ligand enrichment and data acquisition strategies.", "journal": "Molecular immunology", "date": "2020-07", "authors": "Pandey Kirti, Mifsud Nicole A, Lim Kam Sian Terry C C, Ayala Rochelle, Ternette Nicola, Ramarathinam Sri H, Purcell Anthony W", "evidence": [ { "database": "iPTMnet", "id": "P35573", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P35573" }, { "database": "IEDB", "id": "434307", "url": "https://www.iedb.org/epitope/434307" }, { "database": "IEDB", "id": "517357", "url": "https://www.iedb.org/epitope/517357" }, { "database": "IEDB", "id": "573198", "url": "https://www.iedb.org/epitope/573198" }, { "database": "IEDB", "id": "629067", "url": "https://www.iedb.org/epitope/629067" }, { "database": "IEDB", "id": "1350392", "url": "https://www.iedb.org/epitope/1350392" }, { "database": "IEDB", "id": "1360576", "url": "https://www.iedb.org/epitope/1360576" }, { "database": "IEDB", "id": "1366943", "url": "https://www.iedb.org/epitope/1366943" } ], "reference": [ { "type": "PubMed", "id": "32387766", "url": "https://glygen.org/publication/PubMed/32387766" } ] }, { "title": "Multiplexed relative and absolute quantitative immunopeptidomics reveals MHC I repertoire alterations induced by CDK4/6 inhibition.", "journal": "Nature communications", "date": "2020-06-02", "authors": "Stopfer Lauren E, Mesfin Joshua M, Joughin Brian A, Lauffenburger Douglas A, White Forest M", "evidence": [ { "database": "IEDB", "id": "623929", "url": "https://www.iedb.org/epitope/623929" }, { "database": "IEDB", "id": "629067", "url": "https://www.iedb.org/epitope/629067" } ], "reference": [ { "type": "PubMed", "id": "32488085", "url": "https://glygen.org/publication/PubMed/32488085" } ] }, { "title": "Extending the Comprehensiveness of Immunopeptidome Analyses Using Isobaric Peptide Labeling.", "journal": "Analytical chemistry", "date": "2020-07-07", "authors": "Pfammatter Sibylle, Bonneil Eric, Lanoix Joel, Vincent Krystel, Hardy Marie-Pierre, Courcelles Mathieu, Perreault Claude, Thibault Pierre", "evidence": [ { "database": "IEDB", "id": "629067", "url": "https://www.iedb.org/epitope/629067" }, { "database": "IEDB", "id": "1339530", "url": "https://www.iedb.org/epitope/1339530" } ], "reference": [ { "type": "PubMed", "id": "32502341", "url": "https://glygen.org/publication/PubMed/32502341" } ] }, { "title": "Solving an MHC allele-specific bias in the reported immunopeptidome.", "journal": "JCI insight", "date": "2020-10-02", "authors": "Klatt Martin G, Mack Kyeara N, Bai Yang, Aretz Zita E H, Nathan Levy I, Mun Sung Soo, Dao Tao, Scheinberg David A", "evidence": [ { "database": "IEDB", "id": "458997", "url": "https://www.iedb.org/epitope/458997" }, { "database": "IEDB", "id": "629067", "url": "https://www.iedb.org/epitope/629067" }, { "database": "IEDB", "id": "2139139", "url": "https://www.iedb.org/epitope/2139139" } ], "reference": [ { "type": "PubMed", "id": "32897882", "url": "https://glygen.org/publication/PubMed/32897882" } ] }, { "title": "Spliced Peptides and Cytokine-Driven Changes in the Immunopeptidome of Melanoma.", "journal": "Cancer immunology research", "date": "2020-10", "authors": "Faridi Pouya, Woods Katherine, Ostrouska Simone, Deceneux Cyril, Aranha Ritchlynn, Duscharla Divya, Wong Stephen Q, Chen Weisan, Ramarathinam Sri H, Lim Kam Sian Terry C C, Croft Nathan P, Li Chen, Ayala Rochelle, Cebon Jonathan S, Purcell Anthony W, Schittenhelm Ralf B, Behren Andreas", "evidence": [ { "database": "IEDB", "id": "434307", "url": "https://www.iedb.org/epitope/434307" }, { "database": "IEDB", "id": "455600", "url": "https://www.iedb.org/epitope/455600" }, { "database": "IEDB", "id": "458997", "url": "https://www.iedb.org/epitope/458997" }, { "database": "IEDB", "id": "629067", "url": "https://www.iedb.org/epitope/629067" }, { "database": "IEDB", "id": "1975773", "url": "https://www.iedb.org/epitope/1975773" }, { "database": "IEDB", "id": "1984048", "url": "https://www.iedb.org/epitope/1984048" }, { "database": "IEDB", "id": "1998187", "url": "https://www.iedb.org/epitope/1998187" } ], "reference": [ { "type": "PubMed", "id": "32938616", "url": "https://glygen.org/publication/PubMed/32938616" } ] }, { "title": "Mild Acid Elution and MHC Immunoaffinity Chromatography Reveal Similar Albeit Not Identical Profiles of the HLA Class I Immunopeptidome.", "journal": "Journal of proteome research", "date": "2021-01-01", "authors": "Sturm Theo, Sautter Benedikt, W\u00f6rner Tobias P, Stevanovi\u0107 Stefan, Rammensee Hans-Georg, Planz Oliver, Heck Albert J R, Aebersold Ruedi", "evidence": [ { "database": "IEDB", "id": "434307", "url": "https://www.iedb.org/epitope/434307" }, { "database": "IEDB", "id": "458997", "url": "https://www.iedb.org/epitope/458997" }, { "database": "IEDB", "id": "508308", "url": "https://www.iedb.org/epitope/508308" }, { "database": "IEDB", "id": "629067", "url": "https://www.iedb.org/epitope/629067" } ], "reference": [ { "type": "PubMed", "id": "33141586", "url": "https://glygen.org/publication/PubMed/33141586" } ] }, { "title": "Thermostability profiling of MHC-bound peptides: a new dimension in immunopeptidomics and aid for immunotherapy design.", "journal": "Nature communications", "date": "2020-12-09", "authors": "Jappe Emma C, Garde Christian, Ramarathinam Sri H, Passantino Ethan, Illing Patricia T, Mifsud Nicole A, Trolle Thomas, Kringelum Jens V, Croft Nathan P, Purcell Anthony W", "evidence": [ { "database": "IEDB", "id": "434307", "url": "https://www.iedb.org/epitope/434307" }, { "database": "IEDB", "id": "458997", "url": "https://www.iedb.org/epitope/458997" }, { "database": "IEDB", "id": "507869", "url": "https://www.iedb.org/epitope/507869" }, { "database": "IEDB", "id": "508308", "url": "https://www.iedb.org/epitope/508308" }, { "database": "IEDB", "id": "629067", "url": "https://www.iedb.org/epitope/629067" }, { "database": "IEDB", "id": "725396", "url": "https://www.iedb.org/epitope/725396" }, { "database": "IEDB", "id": "1050910", "url": "https://www.iedb.org/epitope/1050910" }, { "database": "IEDB", "id": "1369227", "url": "https://www.iedb.org/epitope/1369227" }, { "database": "IEDB", "id": "1372071", "url": "https://www.iedb.org/epitope/1372071" } ], "reference": [ { "type": "PubMed", "id": "33298915", "url": "https://glygen.org/publication/PubMed/33298915" } ] }, { "title": "Characterization of CD8+ T-cell responses to non-anchor-type HLA class I neoantigens with single amino-acid substitutions.", "journal": "Oncoimmunology", "date": "2021-01-18", "authors": "Shinkawa Tomoyo, Tokita Serina, Nakatsugawa Munehide, Kikuchi Yasuhiro, Kanaseki Takayuki, Torigoe Toshihiko", "evidence": [ { "database": "IEDB", "id": "458997", "url": "https://www.iedb.org/epitope/458997" } ], "reference": [ { "type": "PubMed", "id": "33537174", "url": "https://glygen.org/publication/PubMed/33537174" } ] }, { "title": "CIITA-Transduced Glioblastoma Cells Uncover a Rich Repertoire of Clinically Relevant Tumor-Associated HLA-II Antigens.", "journal": "Molecular & cellular proteomics : MCP", "date": "2021", "authors": "Forlani Greta, Michaux Justine, Pak HuiSong, Huber Florian, Marie Joseph Elodie Lauret, Ramia Elise, Stevenson Brian J, Linnebacher Michael, Accolla Roberto S, Bassani-Sternberg Michal", "evidence": [ { "database": "IEDB", "id": "434307", "url": "https://www.iedb.org/epitope/434307" }, { "database": "IEDB", "id": "716396", "url": "https://www.iedb.org/epitope/716396" }, { "database": "IEDB", "id": "1270783", "url": "https://www.iedb.org/epitope/1270783" }, { "database": "IEDB", "id": "1621681", "url": "https://www.iedb.org/epitope/1621681" } ], "reference": [ { "type": "PubMed", "id": "33592498", "url": "https://glygen.org/publication/PubMed/33592498" } ] }, { "title": "Most non-canonical proteins uniquely populate the proteome or immunopeptidome.", "journal": "Cell reports", "date": "2021-03-09", "authors": "Ruiz Cuevas Maria Virginia, Hardy Marie-Pierre, Holl\u00fd Jaroslav, Bonneil \u00c9ric, Durette Chantal, Courcelles Mathieu, Lanoix Jo\u00ebl, C\u00f4t\u00e9 Caroline, Staudt Louis M, Lemieux S\u00e9bastien, Thibault Pierre, Perreault Claude, Yewdell Jonathan W", "evidence": [ { "database": "IEDB", "id": "629067", "url": "https://www.iedb.org/epitope/629067" } ], "reference": [ { "type": "PubMed", "id": "33691108", "url": "https://glygen.org/publication/PubMed/33691108" } ] }, { "title": "ERAP2 Increases the Abundance of a Peptide Submotif Highly Selective for the Birdshot Uveitis-Associated HLA-A29.", "journal": "Frontiers in immunology", "date": "2021", "authors": "Venema Wouter J, Hiddingh Sanne, de Boer Joke H, Claas Frans H J, Mulder Arend, den Hollander Anneke I, Stratikos Efstratios, Sarkizova Siranush, van der Veken Lars T, Janssen George M C, van Veelen Peter A, Kuiper Jonas J W", "evidence": [ { "database": "IEDB", "id": "428753", "url": "https://www.iedb.org/epitope/428753" }, { "database": "IEDB", "id": "724617", "url": "https://www.iedb.org/epitope/724617" } ], "reference": [ { "type": "PubMed", "id": "33717175", "url": "https://glygen.org/publication/PubMed/33717175" } ] }, { "title": "Carbamazepine Induces Focused T Cell Responses in Resolved Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis Cases But Does Not Perturb the Immunopeptidome for T Cell Recognition.", "journal": "Frontiers in immunology", "date": "2021", "authors": "Mifsud Nicole A, Illing Patricia T, Lai Jeffrey W, Fettke Heidi, Hensen Luca, Huang Ziyi, Rossjohn Jamie, Vivian Julian P, Kwan Patrick, Purcell Anthony W", "evidence": [ { "database": "IEDB", "id": "1588958", "url": "https://www.iedb.org/epitope/1588958" }, { "database": "IEDB", "id": "1589193", "url": "https://www.iedb.org/epitope/1589193" }, { "database": "IEDB", "id": "1590204", "url": "https://www.iedb.org/epitope/1590204" }, { "database": "IEDB", "id": "1592792", "url": "https://www.iedb.org/epitope/1592792" } ], "reference": [ { "type": "PubMed", "id": "33912179", "url": "https://glygen.org/publication/PubMed/33912179" } ] }, { "title": "An Integrated Genomic, Proteomic, and Immunopeptidomic Approach to Discover Treatment-Induced Neoantigens.", "journal": "Frontiers in immunology", "date": "2021", "authors": "Olsson Niclas, Heberling Marlene L, Zhang Lichao, Jhunjhunwala Suchit, Phung Qui T, Lin Sarah, Anania Veronica G, Lill Jennie R, Elias Joshua E", "evidence": [ { "database": "IEDB", "id": "999056", "url": "https://www.iedb.org/epitope/999056" }, { "database": "IEDB", "id": "1574454", "url": "https://www.iedb.org/epitope/1574454" } ], "reference": [ { "type": "PubMed", "id": "33936100", "url": "https://glygen.org/publication/PubMed/33936100" } ] }, { "title": "IFN\u03b3 Modulates the Immunopeptidome of Triple Negative Breast Cancer Cells by Enhancing and Diversifying Antigen Processing and Presentation.", "journal": "Frontiers in immunology", "date": "2021", "authors": "Goncalves Gabriel, Mullan Kerry A, Duscharla Divya, Ayala Rochelle, Croft Nathan P, Faridi Pouya, Purcell Anthony W", "evidence": [ { "database": "IEDB", "id": "434307", "url": "https://www.iedb.org/epitope/434307" }, { "database": "IEDB", "id": "458997", "url": "https://www.iedb.org/epitope/458997" }, { "database": "IEDB", "id": "629067", "url": "https://www.iedb.org/epitope/629067" }, { "database": "IEDB", "id": "847324", "url": "https://www.iedb.org/epitope/847324" }, { "database": "IEDB", "id": "1882101", "url": "https://www.iedb.org/epitope/1882101" }, { "database": "IEDB", "id": "1901447", "url": "https://www.iedb.org/epitope/1901447" }, { "database": "IEDB", "id": "1919310", "url": "https://www.iedb.org/epitope/1919310" }, { "database": "IEDB", "id": "1936478", "url": "https://www.iedb.org/epitope/1936478" } ], "reference": [ { "type": "PubMed", "id": "33968037", "url": "https://glygen.org/publication/PubMed/33968037" } ] }, { "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": "P35573", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P35573" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "Profiling SARS-CoV-2 HLA-I peptidome reveals T\u00a0cell epitopes from out-of-frame ORFs.", "journal": "Cell", "date": "2021-07-22", "authors": "Weingarten-Gabbay Shira, Klaeger Susan, Sarkizova Siranush, Pearlman Leah R, Chen Da-Yuan, Gallagher Kathleen M E, Bauer Matthew R, Taylor Hannah B, Dunn W Augustine, Tarr Christina, Sidney John, Rachimi Suzanna, Conway Hasahn L, Katsis Katelin, Wang Yuntong, Leistritz-Edwards Del, Durkin Melissa R, Tomkins-Tinch Christopher H, Finkel Yaara, Nachshon Aharon, Gentili Matteo, Rivera Keith D, Carulli Isabel P, Chea Vipheaviny A, Chandrashekar Abishek, Bozkus Cansu Cimen, Carrington Mary, , Bhardwaj Nina, Barouch Dan H, Sette Alessandro, Maus Marcela V, Rice Charles M, Clauser Karl R, Keskin Derin B, Pregibon Daniel C, Hacohen Nir, Carr Steven A, Abelin Jennifer G, Saeed Mohsan, Sabeti Pardis C", "evidence": [ { "database": "IEDB", "id": "434307", "url": "https://www.iedb.org/epitope/434307" }, { "database": "IEDB", "id": "458997", "url": "https://www.iedb.org/epitope/458997" }, { "database": "IEDB", "id": "617207", "url": "https://www.iedb.org/epitope/617207" }, { "database": "IEDB", "id": "629067", "url": "https://www.iedb.org/epitope/629067" }, { "database": "IEDB", "id": "1372071", "url": "https://www.iedb.org/epitope/1372071" } ], "reference": [ { "type": "PubMed", "id": "34171305", "url": "https://glygen.org/publication/PubMed/34171305" } ] }, { "title": "Proteogenomic identification of an immunogenic HLA class I neoantigen in mismatch repair-deficient colorectal cancer tissue.", "journal": "JCI insight", "date": "2021-07-22", "authors": "Hirama Tomomi, Tokita Serina, Nakatsugawa Munehide, Murata Kenji, Nannya Yasuhito, Matsuo Kazuhiko, Inoko Hidetoshi, Hirohashi Yoshihiko, Hashimoto Shinichi, Ogawa Seishi, Takemasa Ichiro, Sato Noriyuki, Hata Fumitake, Kanaseki Takayuki, Torigoe Toshihiko", "evidence": [ { "database": "IEDB", "id": "467653", "url": "https://www.iedb.org/epitope/467653" } ], "reference": [ { "type": "PubMed", "id": "34185709", "url": "https://glygen.org/publication/PubMed/34185709" } ] }, { "title": "HLA-B and cysteinylated ligands distinguish the antigen presentation landscape of extracellular vesicles.", "journal": "Communications biology", "date": "2021-07-01", "authors": "Bauz\u00e1-Martinez Julia, Heck Albert J R, Wu Wei", "evidence": [ { "database": "IEDB", "id": "508308", "url": "https://www.iedb.org/epitope/508308" } ], "reference": [ { "type": "PubMed", "id": "34211107", "url": "https://glygen.org/publication/PubMed/34211107" } ] }, { "title": "HLA class II immunopeptidomics reveals that co-inherited HLA-allotypes within an extended haplotype can improve proteome coverage for immunosurveillance.", "journal": "Proteomics", "date": "2021-09", "authors": "Ramarathinam Sri H, Ho Bosco K, Dudek Nadine L, Purcell Anthony W", "evidence": [ { "database": "IEDB", "id": "847324", "url": "https://www.iedb.org/epitope/847324" }, { "database": "IEDB", "id": "1059029", "url": "https://www.iedb.org/epitope/1059029" }, { "database": "IEDB", "id": "1823000", "url": "https://www.iedb.org/epitope/1823000" }, { "database": "IEDB", "id": "1828066", "url": "https://www.iedb.org/epitope/1828066" }, { "database": "IEDB", "id": "1833696", "url": "https://www.iedb.org/epitope/1833696" }, { "database": "IEDB", "id": "1844136", "url": "https://www.iedb.org/epitope/1844136" } ], "reference": [ { "type": "PubMed", "id": "34357683", "url": "https://glygen.org/publication/PubMed/34357683" } ] }, { "title": "Immunopeptidogenomics: Harnessing RNA-Seq to Illuminate the Dark Immunopeptidome.", "journal": "Molecular & cellular proteomics : MCP", "date": "2021", "authors": "Scull Katherine E, Pandey Kirti, Ramarathinam Sri H, Purcell Anthony W", "evidence": [ { "database": "IEDB", "id": "434307", "url": "https://www.iedb.org/epitope/434307" }, { "database": "IEDB", "id": "629067", "url": "https://www.iedb.org/epitope/629067" } ], "reference": [ { "type": "PubMed", "id": "34509645", "url": "https://glygen.org/publication/PubMed/34509645" } ] }, { "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": "P35573", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P35573" } ], "reference": [ { "type": "PubMed", "id": "34725712", "url": "https://glygen.org/publication/PubMed/34725712" } ] }, { "title": "HLA Allele-Specific Quantitative Profiling of Type 1 Diabetic B Lymphocyte Immunopeptidome.", "journal": "Journal of proteome research", "date": "2022-01-07", "authors": "Sudhir Putty-Reddy, Lin Tai-Du, Zhang Qibin", "evidence": [ { "database": "IEDB", "id": "467653", "url": "https://www.iedb.org/epitope/467653" } ], "reference": [ { "type": "PubMed", "id": "34932366", "url": "https://glygen.org/publication/PubMed/34932366" } ] }, { "title": "Immunopeptidomic analysis of influenza A virus infected human tissues identifies internal proteins as a rich source of HLA ligands.", "journal": "PLoS pathogens", "date": "2022-01", "authors": "Nicholas Ben, Bailey Alistair, Staples Karl J, Wilkinson Tom, Elliott Tim, Skipp Paul", "evidence": [ { "database": "IEDB", "id": "508308", "url": "https://www.iedb.org/epitope/508308" }, { "database": "IEDB", "id": "617207", "url": "https://www.iedb.org/epitope/617207" }, { "database": "IEDB", "id": "2016339", "url": "https://www.iedb.org/epitope/2016339" }, { "database": "IEDB", "id": "2041248", "url": "https://www.iedb.org/epitope/2041248" }, { "database": "IEDB", "id": "2046331", "url": "https://www.iedb.org/epitope/2046331" }, { "database": "IEDB", "id": "2051645", "url": "https://www.iedb.org/epitope/2051645" } ], "reference": [ { "type": "PubMed", "id": "35051231", "url": "https://glygen.org/publication/PubMed/35051231" } ] }, { "title": "Unmasking the suppressed immunopeptidome of EZH2-mutated diffuse large B-cell lymphomas through combination drug treatment.", "journal": "Blood advances", "date": "2022-07-26", "authors": "Bourne Christopher M, Mun Sung Soo, Dao Tao, Aretz Zita E H, Molvi Zaki, Gejman Ron S, Daman Andrew, Takata Katsuyoshi, Steidl Christian, Klatt Martin G, Scheinberg David A", "evidence": [ { "database": "IEDB", "id": "573198", "url": "https://www.iedb.org/epitope/573198" }, { "database": "IEDB", "id": "2139139", "url": "https://www.iedb.org/epitope/2139139" } ], "reference": [ { "type": "PubMed", "id": "35561310", "url": "https://glygen.org/publication/PubMed/35561310" } ] }, { "title": "Soluble HLA peptidome of pleural effusions is a valuable source for tumor antigens.", "journal": "Journal for immunotherapy of cancer", "date": "2022-05", "authors": "Khazan-Kost Sofia, Cafri Gal, Melamed Kadosh Dganit, Mooshayef Navit, Chatterji Sumit, Dominissini Dan, Manor Sigal, Zisser Bracha, Broday Limor, Talalai Efrosiniia, Shemer Anat, Zadok Oranit, Ofek Efrat, Onn Amir, Admon Arie, Peled Michael", "evidence": [ { "database": "IEDB", "id": "467653", "url": "https://www.iedb.org/epitope/467653" }, { "database": "IEDB", "id": "709025", "url": "https://www.iedb.org/epitope/709025" }, { "database": "IEDB", "id": "716396", "url": "https://www.iedb.org/epitope/716396" } ], "reference": [ { "type": "PubMed", "id": "35580925", "url": "https://glygen.org/publication/PubMed/35580925" } ] }, { "title": "Multi-Omic Analysis of Two Common P53 Mutations: Proteins Regulated by Mutated P53 as Potential Targets for Immunotherapy.", "journal": "Cancers", "date": "2022-08-17", "authors": "Vadakekolathu Jayakumar, Boocock David J, Pandey Kirti, Guinn Barbara-Ann, Legrand Antoine, Miles Amanda K, Coveney Clare, Ayala Rochelle, Purcell Anthony W, McArdle Stephanie E", "evidence": [ { "database": "IEDB", "id": "434307", "url": "https://www.iedb.org/epitope/434307" }, { "database": "IEDB", "id": "444084", "url": "https://www.iedb.org/epitope/444084" }, { "database": "IEDB", "id": "458997", "url": "https://www.iedb.org/epitope/458997" }, { "database": "IEDB", "id": "467653", "url": "https://www.iedb.org/epitope/467653" }, { "database": "IEDB", "id": "629067", "url": "https://www.iedb.org/epitope/629067" }, { "database": "IEDB", "id": "725396", "url": "https://www.iedb.org/epitope/725396" }, { "database": "IEDB", "id": "895107", "url": "https://www.iedb.org/epitope/895107" }, { "database": "IEDB", "id": "1023185", "url": "https://www.iedb.org/epitope/1023185" }, { "database": "IEDB", "id": "2139370", "url": "https://www.iedb.org/epitope/2139370" }, { "database": "IEDB", "id": "2141808", "url": "https://www.iedb.org/epitope/2141808" }, { "database": "IEDB", "id": "2141969", "url": "https://www.iedb.org/epitope/2141969" } ], "reference": [ { "type": "PubMed", "id": "36010968", "url": "https://glygen.org/publication/PubMed/36010968" } ] }, { "title": "The Autophagy Receptor TAX1BP1 (T6BP) improves antigen presentation by MHC-II molecules.", "journal": "EMBO reports", "date": "2022-12-06", "authors": "Sarango Gabriela, Richetta Cl\u00e9mence, Pereira Mathias, Kumari Anita, Ghosh Michael, Bertrand Lisa, Pionneau C\u00e9dric, Le Gall Morgane, Gr\u00e9goire Sylvie, Jeger-Madiot Rapha\u00ebl, Rosoy Elina, Subra Fr\u00e9d\u00e9ric, Delelis Olivier, Faure Mathias, Esclatine Audrey, Graff-Dubois St\u00e9phanie, Stevanovi\u0107 Stefan, Manoury B\u00e9n\u00e9dicte, Ramirez Bertha Cecilia, Moris Arnaud", "evidence": [ { "database": "IEDB", "id": "434307", "url": "https://www.iedb.org/epitope/434307" }, { "database": "IEDB", "id": "458997", "url": "https://www.iedb.org/epitope/458997" }, { "database": "IEDB", "id": "629067", "url": "https://www.iedb.org/epitope/629067" } ], "reference": [ { "type": "PubMed", "id": "36215666", "url": "https://glygen.org/publication/PubMed/36215666" } ] }, { "title": "Immunopeptidomics-based design of mRNA vaccine formulations against Listeria monocytogenes.", "journal": "Nature communications", "date": "2022-10-14", "authors": "Mayer Rupert L, Verbeke Rein, Asselman Caroline, Aernout Ilke, Gul Adillah, Eggermont Denzel, Boucher Katie, Thery Fabien, Maia Teresa M, Demol Hans, Gabriels Ralf, Martens Lennart, B\u00e9cavin Christophe, De Smedt Stefaan C, Vandekerckhove Bart, Lentacker Ine, Impens Francis", "evidence": [ { "database": "IEDB", "id": "434307", "url": "https://www.iedb.org/epitope/434307" }, { "database": "IEDB", "id": "629067", "url": "https://www.iedb.org/epitope/629067" }, { "database": "IEDB", "id": "633603", "url": "https://www.iedb.org/epitope/633603" }, { "database": "IEDB", "id": "2141808", "url": "https://www.iedb.org/epitope/2141808" }, { "database": "IEDB", "id": "2245743", "url": "https://www.iedb.org/epitope/2245743" }, { "database": "IEDB", "id": "2247880", "url": "https://www.iedb.org/epitope/2247880" } ], "reference": [ { "type": "PubMed", "id": "36241641", "url": "https://glygen.org/publication/PubMed/36241641" } ] }, { "title": "Retina-arrestin specific CD8+ T cells are not implicated in HLA-A29-positive birdshot chorioretinitis.", "journal": "Clinical immunology (Orlando, Fla.)", "date": "2023-02", "authors": "Venema W J, Hiddingh S, Janssen G M C, Ossewaarde-van Norel J, van Loon N Dam, de Boer J H, van Veelen P A, Kuiper J J W", "evidence": [ { "database": "IEDB", "id": "428753", "url": "https://www.iedb.org/epitope/428753" } ], "reference": [ { "type": "PubMed", "id": "36581221", "url": "https://glygen.org/publication/PubMed/36581221" } ] }, { "title": "Targeting of intracellular oncoproteins with peptide-centric CARs.", "journal": "Nature", "date": "2023-11", "authors": "Yarmarkovich Mark, Marshall Quinlen F, Warrington John M, Premaratne Rasika, Farrel Alvin, Groff David, Li Wei, di Marco Moreno, Runbeck Erin, Truong Hau, Toor Jugmohit S, Tripathi Sarvind, Nguyen Son, Shen Helena, Noel Tiffany, Church Nicole L, Weiner Amber, Kendsersky Nathan, Martinez Dan, Weisberg Rebecca, Christie Molly, Eisenlohr Laurence, Bosse Kristopher R, Dimitrov Dimiter S, Stevanovic Stefan, Sgourakis Nikolaos G, Kiefel Ben R, Maris John M", "evidence": [ { "database": "IEDB", "id": "467653", "url": "https://www.iedb.org/epitope/467653" } ], "reference": [ { "type": "PubMed", "id": "37938771", "url": "https://glygen.org/publication/PubMed/37938771" } ] }, { "title": "A kinetic study of the isozymes determined by the three human phosphoglucomutase loci PGM1, PGM2, and PGM3.", "journal": "European journal of biochemistry", "date": "1974", "authors": "Quick CB, Fisher RA, Harris H", "evidence": [ { "database": "Reactome", "id": "R-HSA-70221", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70221" } ], "reference": [ { "type": "PubMed", "id": "4829444", "url": "https://glygen.org/publication/PubMed/4829444" } ] }, { "title": "Simultaneous absence of alpha-1,4-glucosidase and alpha-1,6-glucosidase activities (pH 4) in tissues of children with type II glycogen storage disease.", "journal": "Biochemistry", "date": "1970", "authors": "Brown BI, Brown DH, Jeffrey PL", "evidence": [ { "database": "Reactome", "id": "R-HSA-70221", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70221" } ], "reference": [ { "type": "PubMed", "id": "5264799", "url": "https://glygen.org/publication/PubMed/5264799" } ] }, { "title": "Correlation between subunit interactions and enzymatic activity of phosphorylase a. Method for determining equilibrium constants from initial rate measurements.", "journal": "Biochemistry", "date": "1970", "authors": "Huang CY, Graves DJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-70221", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70221" } ], "reference": [ { "type": "PubMed", "id": "5461220", "url": "https://glygen.org/publication/PubMed/5461220" } ] }, { "title": "X-linked liver phosphorylase kinase deficiency is associated with mutations in the human liver phosphorylase kinase alpha subunit.", "journal": "American journal of human genetics", "date": "1995", "authors": "van den Berg IE, van Beurden EA, Malingre HE, van Amstel HK, Poll-The BT, Smeitink JA, Lamers WH, Berger R", "evidence": [ { "database": "Reactome", "id": "R-HSA-70221", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70221" } ], "reference": [ { "type": "PubMed", "id": "7847371", "url": "https://glygen.org/publication/PubMed/7847371" } ] }, { "title": "The classical human phosphoglucomutase (PGM1) isozyme polymorphism is generated by intragenic recombination.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1993", "authors": "March RE, Putt W, Hollyoake M, Ives JH, Lovegrove JU, Hopkinson DA, Edwards YH, Whitehouse DB", "evidence": [ { "database": "Reactome", "id": "R-HSA-70221", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70221" } ], "reference": [ { "type": "PubMed", "id": "7902568", "url": "https://glygen.org/publication/PubMed/7902568" } ] }, { "title": "Structural and functional changes of lysosomal acid alpha-glucosidase during intracellular transport and maturation.", "journal": "The Journal of biological chemistry", "date": "1993", "authors": "Wisselaar HA, Kroos MA, Hermans MM, van Beeumen J, Reuser AJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-70221", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70221" } ], "reference": [ { "type": "PubMed", "id": "8420990", "url": "https://glygen.org/publication/PubMed/8420990" } ] }, { "title": "Targeting of proteins to granule subsets is determined by timing and not by sorting: The specific granule protein NGAL is localized to azurophil granules when expressed in HL-60 cells.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1996", "authors": "Le Cabec V, Cowland JB, Calafat J, Borregaard N", "evidence": [ { "database": "Reactome", "id": "R-HSA-6798695", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6798695" } ], "reference": [ { "type": "PubMed", "id": "8692836", "url": "https://glygen.org/publication/PubMed/8692836" } ] }, { "title": "Mutations in exon 3 of the glycogen debranching enzyme gene are associated with glycogen storage disease type III that is differentially expressed in liver and muscle.", "journal": "The Journal of clinical investigation", "date": "1996", "authors": "Shen J, Bao Y, Liu HM, Lee P, Leonard JV, Chen YT", "evidence": [ { "database": "Reactome", "id": "R-HSA-70221", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70221" }, { "database": "dbSNP", "id": "rs113994127", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs113994127" }, { "database": "dbSNP", "id": "rs113994126", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs113994126" }, { "database": "dbSNP", "id": "rs113994129", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs113994129" } ], "reference": [ { "type": "PubMed", "id": "8755644", "url": "https://glygen.org/publication/PubMed/8755644" } ] }, { "title": "Mutations in the testis/liver isoform of the phosphorylase kinase gamma subunit (PHKG2) cause autosomal liver glycogenosis in the gsd rat and in humans.", "journal": "Nature genetics", "date": "1996", "authors": "Maichele AJ, Burwinkel B, Maire I, Sovik O, Kilimann MW", "evidence": [ { "database": "Reactome", "id": "R-HSA-70221", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70221" } ], "reference": [ { "type": "PubMed", "id": "8896567", "url": "https://glygen.org/publication/PubMed/8896567" } ] }, { "title": "Human glycogen debranching enzyme gene (AGL): complete structural organization and characterization of the 5' flanking region.", "journal": "Genomics", "date": "1996", "authors": "Bao Y, Dawson T L, Chen Y T", "evidence": [ { "database": "UniProtKB", "id": "P35573", "url": "https://www.uniprot.org/uniprotkb/P35573" } ], "reference": [ { "type": "PubMed", "id": "8954797", "url": "https://glygen.org/publication/PubMed/8954797" } ] }, { "title": "A nonsense mutation due to a single base insertion in the 3'-coding region of glycogen debranching enzyme gene associated with a severe phenotype in a patient with glycogen storage disease type IIIa.", "journal": "Human mutation", "date": "1997", "authors": "Shen J, Bao Y, Chen Y T", "evidence": [ { "database": "dbSNP", "id": "rs387906244", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs387906244" } ], "reference": [ { "type": "PubMed", "id": "8990006", "url": "https://glygen.org/publication/PubMed/8990006" } ] }, { "title": "Isolation and nucleotide sequence of human liver glycogen debranching enzyme mRNA: identification of multiple tissue-specific isoforms.", "journal": "Gene", "date": "1997", "authors": "Bao Y, Yang B Z, Dawson T L, Chen Y T", "evidence": [ { "database": "UniProtKB", "id": "P35573", "url": "https://www.uniprot.org/uniprotkb/P35573" } ], "reference": [ { "type": "PubMed", "id": "9332391", "url": "https://glygen.org/publication/PubMed/9332391" } ] }, { "title": "A single-base deletion in the 3'-coding region of glycogen-debranching enzyme is prevalent in glycogen storage disease type IIIA in a population of North African Jewish patients.", "journal": "European journal of human genetics : EJHG", "date": "1997", "authors": "Parvari R, Moses S, Shen J, Hershkovitz E, Lerner A, Chen Y T", "evidence": [ { "database": "dbSNP", "id": "rs113994134", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs113994134" } ], "reference": [ { "type": "PubMed", "id": "9412782", "url": "https://glygen.org/publication/PubMed/9412782" } ] }, { "title": "Purification and some properties of a hepatic NADPH-dependent reductase that specifically acts on 1,5-anhydro-D-fructose.", "journal": "Journal of biochemistry", "date": "1998-01", "authors": "Sakuma M, Kametani S, Akanuma H", "evidence": [ { "database": "Reactome", "id": "R-HSA-70221", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70221" } ], "reference": [ { "type": "PubMed", "id": "9504428", "url": "https://glygen.org/publication/PubMed/9504428" } ] }, { "title": "Mutations in the liver glycogen synthase gene in children with hypoglycemia due to glycogen storage disease type 0.", "journal": "The Journal of clinical investigation", "date": "1998", "authors": "Orho M, Bosshard NU, Buist NR, Gitzelmann R, Aynsley-Green A, Blumel P, Gannon MC, Nuttall FQ, Groop LC", "evidence": [ { "database": "Reactome", "id": "R-HSA-70221", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70221" } ], "reference": [ { "type": "PubMed", "id": "9691087", "url": "https://glygen.org/publication/PubMed/9691087" } ] } ], "pathway": [ { "id": "hsa:178", "name": "", "url": "https://www.genome.jp/dbget-bin/www_bget?hsa:178", "resource": "KEGG Pathway" }, { "id": "R-HSA-6798695", "name": "", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6798695", "resource": "Reactome", "description": "Neutrophil degranulation" }, { "id": "R-HSA-70221", "name": "", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70221", "resource": "Reactome", "description": "Glycogen breakdown (glycogenolysis)" } ], "orthologs": [ { "uniprot_canonical_ac": "A0A8M2BAR0-1", "protein_name": "Glycogen debranching enzyme", "gene_name": "agla", "tax_id": 7955, "organism": "Danio rerio", "sequence": { "sequence": "MTAKQTRVMVLNDMEKLDRTLFRLDQGFELQFRLGPTLQGKHVRVYTNYPTEGERFDRQKFHALDWINPTAREDDSDKFCTLDLKISGSYQYYFGHGGDEKSGGGYIVVDPVLRVGADNHVLPLDCITIQTYLSKCLGPLDEWSDRLRVAKEAGYNMIHFTPLQTLGESRSCYSLADQLELNPDFSPSGQTYTWTDAGNLVEKLKNEWNMLCITDVVYNHTASNSKWIKKHPECGYNLVNSPHLKPAWVLDRALWHVTCAIADGKYEDRGLPALIQDHPHLHAIRGVLWQEVFPKIKLWEFFQVKIEALVEQFRALLQSGAKPDSSKTDGKKQLKIIQDPQYRRFGNTVDMNTALELFVPNGNSPGAIEDCCNWLRRKLEELNGEQFHEVKHHQEQATNCIDGTVSYERLADHGPKLGPITRKHPLVTRYFTFPFEETTLEQDLELINQPEKSCHFLAHNGWVMGDDPLRNFAEPGSNVYIRRELICWGDSVKLRYGSGPEDCPYLWAHMQKYTEITAKHFVGVRLDNCHSTPLHVAEAMLAAARSVRPNLYVIAELFTGSELIDNVFVNRLGITSLIREAMSAGDSHEEGRLVYRYGGEPVGAFLQPSLRPLVPSIAHAMFLDVTHDNECPIQIRSVYDSLPSSAIVSMACCATGSTRGYDELVPHQISVVSEERFYTKWSSQAKPSSPNEVNLQTGIIAGKLALNRLHQELAAKGFSQVFVDQVDEDIVAVTRHCPSTHQSVVAVCRTAFKNPKHHRYTDEVPPMCIPGKIEEVVLEARTVERQTGTYKKDERSINGMPEYTVEIKEHIQLADSKVVRQAGVTSRGRSEYVQEIVFEKLTPGSVIAFRVSLDPKSQELVGVLRNHLIQFNPLYKAGSVPDSNTPDILKSPLTQIMSKLTLADMNLLLFRCDSEEKEDGGGCYNIPGWTPLKYGGLQGLLSVMAEIRPKNDLGHPFCDNLRQGDWMIDYVSNRLVSRGGPLAEVGQWFQAMFAYLKHIPRYLIPCYFDAILVGAFTTALDATFRQMSSFVQDGSSFVKLLALGSVQMCGVGRFPALPPLSPALSDVPYRVNEITKEKEQCCVSMAAGLPHFSAGIFRCWGRDTFIALRGLLLVTGRHLEARNIILAFAGTLRHGLIPNLLGEGVGARFNCRDAVWWWLQCIQDYCTMVPNGTDILQCPVSRMYPTDDSKPLTAGTVDQLLYEVIHEAMERHIQGIEFRESNAGPQIDRNMRDEGFNIEAKVNPDTGFVYGGNRFNCGTWMDKMGESERARNKGIPATPRDGSAVEIVGLCKSTLRWLVELHKKGLFPYNTVKIQRDGKQLSVAYDEWEMKIQKNFEKMFYVSHDPNDPNEKHPELVHKRGIYKDSYGASSPWCDYQLRPNFTIAMVVAPELFTVEHAWKALNMAEEKLLGPLGMKTLDPDDMVYCGVYDNSLDNDNYNLAKGFNYHQGPEWLWPIGYFLRAKIFFAKKMGKDTYDKTVYLVKNVLSRHNVHMERSSWKGLPELTNENGQYCSFSCETQAWSLAAVLEVLHDL", "length": 1533 }, "evidence": [ { "id": "RGD:1306376", "url": "https://alliancegenome.org/gene/RGD:1306376#orthology", "database": "AGR" }, { "id": "MGI:1924809", "url": "https://alliancegenome.org/gene/MGI:1924809#orthology", "database": "AGR" }, { "id": "HGNC:321", "url": "https://alliancegenome.org/gene/HGNC:321#orthology", "database": "AGR" }, { "id": "FB:FBgn0034618", "url": "https://alliancegenome.org/gene/FB:FBgn0034618#orthology", "database": "AGR" }, { "id": "ZFIN:ZDB-GENE-071004-6", "url": "https://alliancegenome.org/gene/ZFIN:ZDB-GENE-071004-6#orthology", "database": "AGR" }, { "id": "SGD:S000006388", "url": "https://alliancegenome.org/gene/SGD:S000006388#orthology", "database": "AGR" }, { "id": "P35573", "url": "https://omabrowser.org/oma/group/P35573/", "database": "OMA" } ], "glygen_name": "Zebrafish", "common_name": "Zebrafish" }, { "uniprot_canonical_ac": "A0A8V0ZQ64-1", "protein_name": "Glycogen debranching enzyme", "gene_name": "AGL", "tax_id": 9031, "organism": "Gallus gallus", "sequence": { "sequence": "MPSHKETRLLHLNEMEKLDKTLFRLEQGFELQFRLGPTLQGKHVTVCTNYPASGEVFDRHKFRTLSWHNPTGKEDDSDKYCKLDLQISGSYQYYFNLGNEKSGGGYIVVDPILRVGADNHVLPLDCVTLQTFLAKCLGPFHEWENRLKVAKETGYNMIHFTPLQKLGLSRSCYSLADQLEVNPEFSSHNKKCTWNDIGALVEKMKNEWNMLCITDVVYNHTAANSEWLRMHPECGYNLVNSPHLKPAWVLDRALWHLSCMVADGRCIDKGVPPLIENDHHLNCIRKIIWEDIYPKIKLWEFFQVDVNKAVQQFRTLLTKGKIGTKSDPNQHLQIVQDPDYRRFGCTVDMNIALATFIPHSNGPGAIEECCNWFRKRIEELNAEQYRHIHHHQEQAVNCLAGTVVYERLAGHGPKLGPISRKYPLVTRYFTYPFKDLTVEEEQSMMHQPDKACYFMAHNGWVMGDDPLRNFAEPGSNVYLRRELICWGDSVKLRYGNKPEDCPYLWAHMKKYTEITAKHFHGVRLDNCHSTPIHVAEEMLATARSVRPNLYVIAELFTGSEYIDNVFVNRLGITSLIREAMTAYNSHEEGRLVYRFGGEPVGSFVQPRLRPLVPAIAHALFMDITHDNECPIQHRSAYDALPSAMIVSMACCATGSTKGYDELVPHQISVVSEERFYSTWNPQAHLNSGEVNFQTGILAGRLAMNRLHQELGTKGFNQVYVDQVDEDIVAVTRHCPNTHQSVVAVSRTAFRDPKTSFYSKEVPEMCIPGKIEEVVFEARTIERSVSPYTKDEHFINGLPNFTVELREHIQIKDSKIIKQAGTAIKGPNEFVQEIEFENLTPGSVIVFRVSLDPKAQEAVGVLRNHLIQFSPHFKSGSLPDDHSAPILKTLFSSIASKLTLADLNQVLYRCESEEQEDGGGCYNIPNWSSLKYAGLQGLMSVMADIRPKNDLGHPFCDNLRSGDWMIDYVSNRLISRAGACAEVGKWLKAMFVYLKKIPRYLIPCYFDAILVGAYTTLLDVGWHQMSSFVQNGSTFVKHLSLGSIQMCGIGKYACLPDLSPSLHDVPYRLNEITHEKEQCCVTLAAGLPHFSSGIFRSWGRDTFIALRGLMLLTGRYIEARNIILAFGGTLRHGLIPNLLGQGTHARYNCRDAVWWWLQCIQDYCKIVPNGLDILRCPVSRMYPRDDSAPQPAGSVDQPLYEVIQEAMQRHMEGINFRERNAGPQIDQNMRDEGFNIIAGVDRETGFVFGGNRFNCGTWMDKMGESDRARNKGIPATPRDGSAVEIVGLCKSAVRWLLDLSRKNEYPFHGVTIKRYGREETITYDEWNRKIQGHFERLFFVSENPADQNEKHPNLVHKRGIYKDSYGASSPWCDYQLRPNFTIAMVVAPELFTPERAWKALRIAEEKLLGPLGMKTLDPDDMVYCGIYDNALDNDNYNVARGFNYHQGPEWLWPIGYFLRAKLYFSKLIGPEIYAKTVVMIKNVLSRHYVHLERSSWKGLPELTNENGQYCPFSCETQAWSIGVILEVLYDL", "length": 1530 }, "evidence": [ { "id": "P35573", "url": "https://omabrowser.org/oma/group/P35573/", "database": "OMA" } ], "glygen_name": "Chicken", "common_name": "Chicken" }, { "uniprot_canonical_ac": "A0AB32THB4-1", "protein_name": "Glycogen debranching enzyme", "gene_name": "aglb", "tax_id": 7955, "organism": "Danio rerio", "sequence": { "sequence": "MRSLSDVAARTAGDPDATFPVFKGHPKKSTASMFRGKQTRVLLLNDMESMERTLFRLEQGFELQFRLGPTLQGKSVHVHTNYPALYKKFVASSFRQLEWENPSGREDDSDKYCKLDLEIAGSYQYYFGCGNEQKTGGGYIIVDPVLRVGHERKILPLDCITVQTYLAKCLGPLDEWLDRLKVARETGYNMIHFTPLQKLGMSKSCYSIADQLELNPDFSPPGKNYTWMDVGNLTEKLKKEWNMICITDVVYNHTAANSKWIRLHPECGYNLVNSPHLKPAWLLDRALWHFSCAIADGKYSDGGLPPLIENEKHITILKGLLWTEVFTHLKLWEFLQVNVEKAVEQFRKVLQAGNKPVGPELEGKPKLKVIQDSQFRRLSNTVDMQLALEMFGRHTNGPKSIEECCDWFKKSLEELNVECYKEMHSHHEKAIDCIVGTVCYERIAAHGPQLGPVTQTNPLVLRYFTFPFEDMTMEQESQLMQDPNNACHLLAHNGWVMGDDPLRNFAEAGSTVYLRRELVCWGDSVKLRYGDKPEDCPYLWAHMKKYTEITAKHFSGVRLDNCHSTPLHVAEYILAVARQHRPDLYVVAELFTGSEELDNVFMTRLGITSLIREAMSAGDSHEEGRLVYRFGGEPVGSFIQPNLRPLEPSIAHAMFLDVTHDNECPIQVRSAYDALPSSAIVSMACCASGSTRGYDELVPHQISVVKEERLYPKWNPDALPSSGREVNLHSGITAGKLALNKLHQELAENGFTQVYVDQLDEDTVAVTRHCPSTHQSVVTVCRTAFKDPKTHQFRESLAPMYIPGKIEEVILEARTVERSAESYVKDETFINGLPNYTVEIREHIQLKESQIVKQGDATTKGRSEFVEEILFEKLTPGSVIAFRVSLDPNSQKMVGYLRTQLSQFNRLFKSGSLTDSNVAGILKISLEFLISKLTLAELNVLLFRCDAEEQEDGGGCYNIPSWMPLKYGGLQGFVSVLSEIRPKNDLGHPFCDNLRQGNWILDYVSTRLINKGGALREVGKWFKAVFSYLKHLPRYLVPCYFDAIIVGAYATAVDAVFNQMSSFVLNGSTLVKQLALGSVQMCGVGRVPALPHLSPELEDVPVRVNSATKQEEQCCVSIAAGLPHFSTGIFRCWGRDTFIALRGLMLLTGRHLEARDIILAFAGTMRHGLIPNLLGQGVAARYNCRDAVWWWLQCIQDYCTIVPSGTDILMCPVSRMYPTDDSEAQALGTVAHDQPLYVLIQEAMQRHMQGIQFRERNAGPQIDWNMQHEGFNVEAKVNPETGFVYGGNGFNCGTWMDKMGESDKAHNKGVPATPRDGSAVEIVGLSKSAVRWLMMMNETGHFPYSSVKIHRDGAEQLITYKEWNQRIQENFERFFYVSDDPADPNEQRPDLVHKKCIYKDSHGASSPWCDYQLRPNFTIAMVVAPELFSVQRAWKALEIVETKLLGPLGMKTLDPDDLVYCGVYDNALDNDDYNRAKGFNYHQGPEWIWLVGYFLRAKLYFGRKMGQEKYNQSVYLVKNVLSRLHTHLERSPWKGLPELTNENGQYCPFSCETQAWSIATVLEALFDL", "length": 1568 }, "evidence": [ { "id": "RGD:1306376", "url": "https://alliancegenome.org/gene/RGD:1306376#orthology", "database": "AGR" }, { "id": "MGI:1924809", "url": "https://alliancegenome.org/gene/MGI:1924809#orthology", "database": "AGR" }, { "id": "HGNC:321", "url": "https://alliancegenome.org/gene/HGNC:321#orthology", "database": "AGR" }, { "id": "FB:FBgn0034618", "url": "https://alliancegenome.org/gene/FB:FBgn0034618#orthology", "database": "AGR" }, { "id": "ZFIN:ZDB-GENE-050309-54", "url": "https://alliancegenome.org/gene/ZFIN:ZDB-GENE-050309-54#orthology", "database": "AGR" }, { "id": "SGD:S000006388", "url": "https://alliancegenome.org/gene/SGD:S000006388#orthology", "database": "AGR" } ], "glygen_name": "Zebrafish", "common_name": "Zebrafish" }, { "uniprot_canonical_ac": "D4AEH9-1", "protein_name": "Glycogen debranching enzyme", "gene_name": "Agl", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MEHSKQIRILLLNEMEKLEKTLFRLEQGFELQFRLGPTLQGKAVTVYTNYPFPGEAFNREKFRSLDWENPTEREDDSDKYCKVHLQQSGSFQYYFLQGQEKSGGGYIVVDPILRVGADNHVLPLDCVTLQTFLAKCLGPFDEWESRLRVAKESGYNMIHFTPLQALGLSRSCYSLADQLELNPDFSRPNRRYTWDDVGQLVEKLKREWNILCITDVVYNHTAANSKWIHEHPESAYNLVNSPHLKPAWVLDRALWHLSCDVADGKYREKGVPALIENDHHMNCIRKIIWEDIFPRIQLWEFFQVDVQKAVEQFRRLLSQENRRVTKSEPKEHLKIIQDPEFRRLGCAVDMNIALATFIPHDNGPAAIEECCNWFRKRLEELNSEKHHLTSCHQEQAVNCLLGNVFYERLAGHGPKLGPVTRKYPLVTRYFTFPFEEMALSAEESLLHRPDKACFLMAHNGWVMGDDPLRNFAEPGSNVYLRRELICWGDSVKLRYGNKPEDCPYLWAHMKKYTEITATHFQGVRLDNCHSTPLHVAEYMLDAARKLQPNLYVVAELFTGSEDLDNIFVTRLGISSLIREAMSAYNSHEEGRLVYRYGGEPVGSFVQPCLRPLMPAIAHALFMDITHDNECPIVHRSAYDALPSTTVVSMACCASGSTRGYDELVPHQISVVAEERFYTKWNPGASPSDTGDVSIHSGIIAARCAINRLHQELGAKGFIQVYVDQVDEDIVAVTRHSPSIHQSVVAVSRTAFRNPKTSFYSKEVPQMCIPGKIEEVVLEARTIERNTKPYRKDENSINGMPNMTVELRERIQLHESKIVKQAGVATKGPNEYIQEIEFENLSPGSVIIFRVSLDPHAQVAVGILRNHLTQFSSHFKSGSLAVDNSDPILKIPFASIASKLTLAELNQVLYRCESEEQEDGGGCYDIPNWSSLKYAGLQGLMSVLAEIRPKNDLGHPFCENLRSGDWMIDYVSGRLISRSGSIAEVGKWLQAMFFYLKQIPRYLIPCYFDAILIGAYTTLLDVAWKQMSSFVQNGSTFVKHLSLGSVQMCGVGKCPCLPLLSPSLLDVPCRLNEITKEKEQCCASLAAGLPHFSSGLFRCWGRDTFIALRGMLLVTGRYLEARNIILAFACTLRHGLIPNLLGEGTYARYNCRDAVWWWLQCIQDYCKMVPNGLDILKCPVSRMYPTDDSAPLPAGTLDQPLFEVIQEAMQRHMQGIQFRERNAGPQIDRNMKDEGFNITVGVDEETGFVYGGNRFNCGTWMDKMGESDRARNRGIPATPRDGSAVEIVGLCKSAVRWLLELSKKNIFPYHEVRVRRHGKVVAVSYDEWNRKIQNSFEKLFHVSEDPSDPNEKHPNLVHKRGIYKDSYGASSPWCDYQLRPNFTIAMVVAPELFTAEKAWKALEIAEGKLLGPLGMKTLDPDDMVYCGVYDNALDNDNYNLARGFNYHQGPEWLWPIGYFLRAKLYFSKMMGPETAAKTVFLVKNVLSRHYVHLERSPWKGLPELTNENGQYCPFSCETQAWSMAAVLETLYDL", "length": 1532 }, "evidence": [ { "id": "RGD:1306376", "url": "https://alliancegenome.org/gene/RGD:1306376#orthology", "database": "AGR" }, { "id": "MGI:1924809", "url": "https://alliancegenome.org/gene/MGI:1924809#orthology", "database": "AGR" }, { "id": "HGNC:321", "url": "https://alliancegenome.org/gene/HGNC:321#orthology", "database": "AGR" }, { "id": "FB:FBgn0034618", "url": "https://alliancegenome.org/gene/FB:FBgn0034618#orthology", "database": "AGR" }, { "id": "ZFIN:ZDB-GENE-071004-6", "url": "https://alliancegenome.org/gene/ZFIN:ZDB-GENE-071004-6#orthology", "database": "AGR" }, { "id": "ZFIN:ZDB-GENE-050309-54", "url": "https://alliancegenome.org/gene/ZFIN:ZDB-GENE-050309-54#orthology", "database": "AGR" }, { "id": "SGD:S000006388", "url": "https://alliancegenome.org/gene/SGD:S000006388#orthology", "database": "AGR" }, { "id": "P35573", "url": "https://omabrowser.org/oma/group/P35573/", "database": "OMA" } ], "glygen_name": "Rat", "common_name": "Rat" }, { "uniprot_canonical_ac": "F8VPN4-1", "protein_name": "Glycogen debranching enzyme", "gene_name": "Agl", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MEHSKQIRILLLNEMEKLEKTLFRLEQGFELQFRLGPTLQGKAVTVYTNYPLPGEAFNREKFRSLDWENPTEREDDSDKYCKLHLQQSGSFQYYFLQGNEKSGGGYIVVDPILRIGVDNHVLPLDCVTLQTFLAKCLGPFDEWESRLRVAKESGYNMIHFTPLQTLGLSRSCYSLADQLELNPDFSRPSKRYTWSDVGQLVEKLKREWNILCITDVVYNHTATNSKWILEHPESAYNLVNSPHLKPAWVLDRALWHFSCDVADGKYREKGVPALIENDQHMNCIRKIIWEDIFPRIQLWEFFQVDVHKAVEQFRRLLSQENRRVTKSEPKEHLKIIQDPEYRRRGCAVDMDTALATFIPHDNGPAAIEECCNWFRKRLEELNSEKHHLTSCHQEQAVNCLLGNVFYERLAGHGPKLGPVTRKYPLVTRYFTFPFGEMALSAEEALIHLPDKACFLMAHNGWVMGDDPLRNFAEPGSDVYLRRELICWGDSVKLRYGNKPEDCPYLWAHMKKYTEITATHFQGVRLDNCHSTPLHVAEYMLDAARKLQPNLYVVAELFTGSEELDNIFVTRLGISSLIREAMSAYNSHEEGRLVYRYGGEPVGSFVQPCLRPLMPAIAHALFMDITHDNECPIVHRSAYDALPSTTVVSMACCASGSTRGYDELVPHQISVVAEERFYTKWNPGASPADTGDVNVHSGIIAARCAINRLHQELGAKGFIQVYVDQVDEDIVAVTRHSPSIHQSVVAVSRTAFRNPKTSFYSKEVPQMCIPGKIEEVVLEARTIERNTKPYKKDENSINGMPNMTVELREHIQLHESKIVRQAGVATKGPNEYIQEIEFENLSPGSVIIFRVSLDPHAQVAVGILRNHLTQFSSHFKSGSLAVDNADPILKIPFASIASKLTLAELNQVLYRCESEEQEDGGGCYDIPNWSSLKYAGLQGLMSVLAEIRPKNDLGHPFCENLRSGDWMIDYVSGRLISRSGSIAEVGKWLQAMFFYLKQIPRYLIPCYFDAILIGAYTTLLDVAWKQMSSFVQNGSTFVKHLSLGSVQMCGVGKCPCLPLLSPSLLDVPCRLNEITKEKEQCCASLAAGLPHFSSGLFRCWGRDTFIALRGMLLVTGRYLEARNIILAFASTLRHGLIPNLLGEGTYARYNCRDAVWWWLQCIQDYCRTVPNGLDILKCPVSRMYPTDDSAPLPAGTLDQPLFEVIQEAMQRHMQGIQFRERNAGPQIDRNMKDEGFNITAGIDEETGFVYGGNRFNCGTWMDKMGESDRARNRGIPATPRDGSAVEIVGLCKSAVRWLLELSKKNIFPYHEVRVKRHGKVVAVSYDEWNRKIQNNFEKLFHVSEDPSDPNEKHPNLVHKRGIYKDSYGASSPWCDYQLRPNFTIAMVVAPELFTAEKAWKALEIAEKKLLGPLGMKTLDPDDMVYCGVYDNALDNDNYNLARGFNYHQGPEWLWPIGYFLRAKLYFSKMMGPETAAKTVFLVKNVLSRHYVHLERSPWKGLPELTNENGQYCPFSCETQAWSMAVVLETLYDL", "length": 1532 }, "evidence": [ { "id": "RGD:1306376", "url": "https://alliancegenome.org/gene/RGD:1306376#orthology", "database": "AGR" }, { "id": "MGI:1924809", "url": "https://alliancegenome.org/gene/MGI:1924809#orthology", "database": "AGR" }, { "id": "HGNC:321", "url": "https://alliancegenome.org/gene/HGNC:321#orthology", "database": "AGR" }, { "id": "FB:FBgn0034618", "url": "https://alliancegenome.org/gene/FB:FBgn0034618#orthology", "database": "AGR" }, { "id": "ZFIN:ZDB-GENE-071004-6", "url": "https://alliancegenome.org/gene/ZFIN:ZDB-GENE-071004-6#orthology", "database": "AGR" }, { "id": "ZFIN:ZDB-GENE-050309-54", "url": "https://alliancegenome.org/gene/ZFIN:ZDB-GENE-050309-54#orthology", "database": "AGR" }, { "id": "SGD:S000006388", "url": "https://alliancegenome.org/gene/SGD:S000006388#orthology", "database": "AGR" }, { "id": "P35573", "url": "https://omabrowser.org/oma/group/P35573/", "database": "OMA" } ], "glygen_name": "Mouse", "common_name": "Mouse" }, { "uniprot_canonical_ac": "Q06625-1", "protein_name": "Glycogen debranching enzyme", "gene_name": "GDB1", "tax_id": 559292, "organism": "Saccharomyces cerevisiae S288C", "sequence": { "sequence": "MNRSLLLRLSDTGEPITSCSYGKGVLTLPPIPLPKDAPKDQPLYTVKLLVSAGSPVARDGLVWTNCPPDHNTPFKRDKFYKKIIHSSFHEDDCIDLNVYAPGSYCFYLSFRNDNEKLETTRKYYFVALPMLYINDQFLPLNSIALQSVVSKWLGSDWEPILSKIAAKNYNMVHFTPLQERGESNSPYSIYDQLQFDQEHFKSPEDVKNLVEHIHRDLNMLSLTDIVFNHTANNSPWLVEHPEAGYNHITAPHLISAIELDQELLNFSRNLKSWGYPTELKNIEDLFKIMDGIKVHVLGSLKLWEYYAVNVQTALRDIKAHWNDESNESYSFPENIKDISSDFVKLASFVKDNVTEPNFGTLGERNSNRINVPKFIQLLKLINDGGSDDSESSLATAQNILNEVNLPLYREYDDDVSEILEQLFNRIKYLRLDDGGPKQGPVTVDVPLTEPYFTRFKGKDGTDYALANNGWIWNGNPLVDFASQNSRAYLRREVIVWGDCVKLRYGKSPEDSPYLWERMSKYIEMNAKIFDGFRIDNCHSTPIHVGEYFLDLARKYNPNLYVVAELFSGSETLDCLFVERLGISSLIREAMQAWSEEELSRLVHKHGGRPIGSYKFVPMDDFSYPADINLNEEHCFNDSNDNSIRCVSEIMIPKILTATPPHALFMDCTHDNETPFEKRTVEDTLPNAALVALCSSAIGSVYGYDEIFPHLLNLVTEKRHYDISTPTGSPSIGITKVKATLNSIRTSIGEKAYDIEDSEMHVHHQGQYITFHRMDVKSGKGWYLIARMKFSDNDDPNETLPPVVLNQSTCSLRFSYALERVGDEIPNDDKFIKGIPTKLKELEGFDISYDDSKKISTIKLPNEFPQGSIAIFETQQNGVDESLDHFIRSGALKATSSLTLESINSVLYRSEPEEYDVSAGEGGAYIIPNFGKPVYCGLQGWVSVLRKIVFYNDLAHPLSANLRNGHWALDYTISRLNYYSDEAGINEVQNWLRSRFDRVKKLPSYLVPSYFALIIGILYGCCRLKAIQLMSRNIGKSTLFVQSLSMTSIQMVSRMKSTSILPGENVPSMAAGLPHFSVNYMRCWGRDVFISLRGMLLTTGRFDEAKAHILAFAKTLKHGLIPNLLDAGRNPRYNARDAAWFFLQAVQDYVYIVPDGEKILQEQVTRRFPLDDTYIPVDDPRAFSYSSTLEEIIYEILSRHAKGIKFREANAGPNLDRVMTDKGFNVEIHVDWSTGLIHGGSQYNCGTWMDKMGESEKAGSVGIPGTPRDGAAIEINGLLKSALRFVIELKNKGLFKFSDVETQDGGRIDFTEWNQLLQDNFEKRYYVPEDPSQDADYDVSAKLGVNRRGIYRDLYKSGKPYEDYQLRPNFAIAMTVAPELFVPEHAIKAITIADEVLRGPVGMRTLDPSDYNYRPYYNNGEDSDDFATSKGRNYHQGPEWVWLYGYFLRAFHHFHFKTSPRCQNAAKEKPSSYLYQQLYYRLKGHRKWIFESVWAGLTELTNKDGEVCNDSSPTQAWSSACLLDLFYDLWDAYEDDS", "length": 1536 }, "evidence": [ { "id": "RGD:1306376", "url": "https://alliancegenome.org/gene/RGD:1306376#orthology", "database": "AGR" }, { "id": "MGI:1924809", "url": "https://alliancegenome.org/gene/MGI:1924809#orthology", "database": "AGR" }, { "id": "HGNC:321", "url": "https://alliancegenome.org/gene/HGNC:321#orthology", "database": "AGR" }, { "id": "FB:FBgn0034618", "url": "https://alliancegenome.org/gene/FB:FBgn0034618#orthology", "database": "AGR" }, { "id": "ZFIN:ZDB-GENE-071004-6", "url": "https://alliancegenome.org/gene/ZFIN:ZDB-GENE-071004-6#orthology", "database": "AGR" }, { "id": "ZFIN:ZDB-GENE-050309-54", "url": "https://alliancegenome.org/gene/ZFIN:ZDB-GENE-050309-54#orthology", "database": "AGR" }, { "id": "SGD:S000006388", "url": "https://alliancegenome.org/gene/SGD:S000006388#orthology", "database": "AGR" }, { "id": "P35573", "url": "https://omabrowser.org/oma/group/P35573/", "database": "OMA" } ], "glygen_name": "Yeast", "common_name": "Baker's yeast" }, { "uniprot_canonical_ac": "Q54K94-1", "protein_name": "Glycogen debranching enzyme", "gene_name": "agl", "tax_id": 44689, "organism": "Dictyostelium discoideum", "sequence": { "sequence": "MRISNNNSESGNCGVEYTKLIDSFSEKIRIKDHCVNISTNTSTETKNNNSNINQDIYTITLVGNGSEPPFNAKGLVLPSLGTLRIIIPAGLEVASYNPQIYTNYHHGTDPTSSFQRDKFYIFHKGNIIGYNGNNDLIFEQKIEKYGCFDYYVEWEEVASKNVKCGQIGTFQINPMLKINQQVIPSESICLQTFLTKCMGSIDQWEKHIETASKLGFNMIHYTPVQEIGESGSSYSIYDQQSISSKIFEGGMNRKIINEDEKLLALSSFISDAEKKYGVLGMIDLVWNHTANNSAWLNQHPEAGYNTDNSPHLKSAVQLDQALQDYGKTLYGKEINNIDQLNDVINDVKTKVLPPLKLWEYYVLDIEKEVEIFKNTFFSSGRVKEQIPSSCSTFSPSFLKNIISNPNHEKHEQIKSISKNGIIRAPSYERYSLHINLDYTYKVLDTSVTFSNNSSPEEQIQKYRDILSIVNLEIYKDFDHDTEAILKNIFERIKYERVSDHGPKLGKITKSKPLLTSYFTIVQYRDPNNSSIREIPLANNGWIFNHNPTVDFASSESRAYLRRDVIVWGDCVKMRYGQSPSDNQWLWNHMKTYTQNMARIFHAIRIDNCHSTPIHLAQYLLDAAREIRPDIYITCELFTGSEEIDYFFVKKLGINSLIREAMQCGDSSEFTRVLYRYGGRPIGSIQEPPIGEYLNGCCSRNLGGGIISPNDYASKSLKPSLPPALFMDCTHDNETPHQKRTIADTLSNAAIVAMSACAIGSTRGYDEIFPKTIDLVNETRVYNTNVNLSSGILPIRSLLSKIHLELSCNGFDEIHIHQDGNLIFIQRYSPKLNESIFMVAHCSFSNQQQQQQQDNDKELHVPCKISQFLFGAKITNTHINRNDWNTNTTKLNGIEVDCEIHYHDKVLNQFCQIHEYNNENGALCTTLKLNNFKAGSILFFRGEIPKPNIESIRKIEQLILDENNQLCKSFDNVDLIDMNVLLFRINEEEKQVIGHGAYHVQNPVGELSFCGLQGFVTELNQIAKHNDLGNQLCGNLRKGNWAIDYIVNRLDQRVALKSVKQWLTQCFDQLKQLPRHLIPMYFYQIIMTTYRFATNKSIEKMGNSFVKESDSWFSRALALTSIQFFGVSTPLISNPNVLEGVKDREASLAAGFPHFATGYMRSWGRDTFISLRGILLVTNRYREAINIIVGFGSCLRFGLIPNLLDCGTKPRFNSRDSVWWYLRSIQDTYNCLPTEKEKDQFLNQTKVYRLFPPTNYISPISTIAEIIQEILQAHASGIHFREPNAGREIDDRMRDEGFNISIDLNLTNGFLYGGNRSNCGTWMDKMGESTKANNYGEPATPRDGAPIEITAMLYSTLSWISDLYKLDKFKHGGVEILKSKDNNDNNNNNNSKTDILTYQDWSKLIETNFEKYYYVPSSGDDKKYIINSNYVHRRFIYKDVVGSANVFSDYQLRPNICVAMSFAPKLFNDQHANKCIDIIRNSLVGPIGMKTLDPNDPNYHGNYDNSSDSGYKPTSRGFNYHNGPEWVWCYGFFLESIVQFKQFPSISTKNHLINSLLIKHKLYIQNDKRFSLPELTNREGSFCKDSCDSQAWSIATILASPYQLSITKN", "length": 1608 }, "evidence": [ { "id": "P35573", "url": "https://omabrowser.org/oma/group/P35573/", "database": "OMA" } ], "glygen_name": "Cellular slime mold", "common_name": "Social amoeba" }, { "uniprot_canonical_ac": "Q9W2H8-1", "protein_name": "Glycogen debranching enzyme", "gene_name": "Agl", "tax_id": 7227, "organism": "Drosophila melanogaster", "sequence": { "sequence": "MRYQLFRWLYGLIATVDNEPLPLQIKSEEEAFGENKKKKQLASLENAISPGKLDSVAIRTVPSANANAMGNAGSAEIVSNQIIRRREMSTMGKETESHSIPISEGQDAEHILYRLKRGSKLSVHPDASLLGRKIVLYTNYPAEGQKFVRTEYRVLGWQLSNGKQITSVMHPEAHVVDTDIRSQVELNMSGTYHFYFRYLERPDTGCSGADGALYVQVEPTLHVGPPGAQKTIPLDSVRCQTVLAKLLGPLDTWEPKLRVAKEAGYNVIHFTPIQELGGSRSCYSLRDQLKVNSHFAPQKGGKISFEDVEKVIKKCRQEWGVASICDIVLNHTANESDWLLQHPDATYSCATCPYLRPAFLLDATFAQCGADIAEGSLEHVGVPAVIEQECHLEALKYQLHTSYMSKVNIHELYQCDVMKYVNEFMSQVRTREPPKNVANECRFQEIQLIQDPQYRRLASTINFELALEIFNAFHGDCFDEESRFRKCAETLRRHLDALNDRVRCEVQGYINYAIDNVLAGVRYERVQGDGPRVKEISEKHSVFMVYFTHTGTQGKSLTEIEADMYTKAGEFFMAHNGWVMGYSDPLRDFAEEQPGRANVYLKRELISWGDSVKLRFGRRPEDSPYLWQHMTEYVQTTARIFDGVRLDNCHSTPLHVAEYLLDAARKINPELYVVAELFTNSDYTDNVFVNRLGITSLIREALSAWDSHEQGRLVYRYGGVPVGGFQANSSRHEATSVAHALFLDLTHDNPSPVEKRSVYDLLPSAALVSMACCATGSNRGYDELVPHHIHVVDEERTYQEWGKGVDSKSGIMGAKRALNLLHGQLAEEGFSQVYVDQMDPNVVAVTRHSPITHQSVILVAHTAFGYPSPNAGPTGIRPLRFEGVLDEIILEASLTMQSDKPFDRPAPFKKDPNVINGFTQFQLNLQEHIPLAKSTVFQTQAYSDGNNTELNFANLRPGTVVAIRVSMHPGPRTSFDKLQKISAALRIGSGEEYSQLQAIVSKLDLVALSGALFSCDDEERDLGKGGTAYDIPNFGKIVYCGLQGFISLLTEISPKNDLGHPLCNNLRDGNWMMDYISDRLTSYEDLKPLSAWFKATFEPLKNIPRYLIPCYFDAIVSGVYNVLINQVNELMPDFIKNGHSFPQSLALSTLQFLSVCKSANLPGFSPALSPPKPPKQCVTLSAGLPHFSTGYMRCWGRDTFIALRGSMFLTGRYNEARFIIIGFGQTLRHGLIPNLLDSGSKPRFNCRDAIWWWMYCIKQYVEDAPKGAEILKDKVSRIFPYDDADAHAPGAFDQLLFDVMQEALQVHFQGLQYRERNAGYEIDAHMVDQGFNNQIGIHPETGFVFGGNNFNCGTWMDKMGSSQKAGNKGRPSTPRDGSAVELVGLQYAVLRFMQSLAEKEVIPYTGVERKGPSGEVTKWSYKEWADRIKNNFDKYFFVSESETCSVANKKLIYKDSYGATQSWTDYQLRCNFPITLTVAPDLCNPQNAWRALERAKKYLLGPLGMKTMDPEDWNYRANYDNSNDSTDCTVAHGANYHQGPEWVWPIGFYLRARLIFAKKCGHLDETIAETWAILRAHLRELQTSHWRGLPELTNDNGSYCGDSCRTQAWSVAAILEVLYDLHSLGADVA", "length": 1629 }, "evidence": [ { "id": "RGD:1306376", "url": "https://alliancegenome.org/gene/RGD:1306376#orthology", "database": "AGR" }, { "id": "MGI:1924809", "url": "https://alliancegenome.org/gene/MGI:1924809#orthology", "database": "AGR" }, { "id": "HGNC:321", "url": "https://alliancegenome.org/gene/HGNC:321#orthology", "database": "AGR" }, { "id": "FB:FBgn0034618", "url": "https://alliancegenome.org/gene/FB:FBgn0034618#orthology", "database": "AGR" }, { "id": "ZFIN:ZDB-GENE-071004-6", "url": "https://alliancegenome.org/gene/ZFIN:ZDB-GENE-071004-6#orthology", "database": "AGR" }, { "id": "ZFIN:ZDB-GENE-050309-54", "url": "https://alliancegenome.org/gene/ZFIN:ZDB-GENE-050309-54#orthology", "database": "AGR" }, { "id": "SGD:S000006388", "url": "https://alliancegenome.org/gene/SGD:S000006388#orthology", "database": "AGR" }, { "id": "P35573", "url": "https://omabrowser.org/oma/group/P35573/", "database": "OMA" } ], "glygen_name": "Fruit fly", "common_name": "Fruit fly" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 4, "go_terms": [ { "name": "polysaccharide binding", "id": "GO:0030247", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030247", "evidence": [ { "database": "UniProtKB", "id": "P35573", "url": "https://www.uniprot.org/uniprotkb/P35573" } ], "pmid": "" }, { "name": "4-alpha-glucanotransferase activity", "id": "GO:0004134", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004134", "evidence": [ { "database": "UniProtKB", "id": "P35573", "url": "https://www.uniprot.org/uniprotkb/P35573" } ], "pmid": "" }, { "name": "amylo-alpha-1,6-glucosidase activity", "id": "GO:0004135", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004135", "evidence": [ { "database": "UniProtKB", "id": "P35573", "url": "https://www.uniprot.org/uniprotkb/P35573" } ], "pmid": "" }, { "name": "polyubiquitin modification-dependent protein binding", "id": "GO:0031593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031593", "evidence": [ { "database": "UniProtKB", "id": "P35573", "url": "https://www.uniprot.org/uniprotkb/P35573" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 10, "go_terms": [ { "name": "isoamylase complex", "id": "GO:0043033", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043033", "evidence": [ { "database": "UniProtKB", "id": "P35573", "url": "https://www.uniprot.org/uniprotkb/P35573" } ], "pmid": "" }, { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P35573", "url": "https://www.uniprot.org/uniprotkb/P35573" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P35573", "url": "https://www.uniprot.org/uniprotkb/P35573" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P35573", "url": "https://www.uniprot.org/uniprotkb/P35573" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P35573", "url": "https://www.uniprot.org/uniprotkb/P35573" } ], "pmid": "" }, { "name": "secretory granule lumen", "id": "GO:0034774", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034774", "evidence": [ { "database": "UniProtKB", "id": "P35573", "url": "https://www.uniprot.org/uniprotkb/P35573" } ], "pmid": "" }, { "name": "ficolin-1-rich granule lumen", "id": "GO:1904813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904813", "evidence": [ { "database": "UniProtKB", "id": "P35573", "url": "https://www.uniprot.org/uniprotkb/P35573" } ], "pmid": "" }, { "name": "nuclear body", "id": "GO:0016604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016604", "evidence": [ { "database": "UniProtKB", "id": "P35573", "url": "https://www.uniprot.org/uniprotkb/P35573" } ], "pmid": "" }, { "name": "sarcoplasmic reticulum", "id": "GO:0016529", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016529", "evidence": [ { "database": "UniProtKB", "id": "P35573", "url": "https://www.uniprot.org/uniprotkb/P35573" } ], "pmid": "" }, { "name": "inclusion body", "id": "GO:0016234", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016234", "evidence": [ { "database": "UniProtKB", "id": "P35573", "url": "https://www.uniprot.org/uniprotkb/P35573" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 4, "go_terms": [ { "name": "response to nutrient", "id": "GO:0007584", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007584", "evidence": [ { "database": "UniProtKB", "id": "P35573", "url": "https://www.uniprot.org/uniprotkb/P35573" } ], "pmid": "" }, { "name": "response to glucocorticoid", "id": "GO:0051384", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051384", "evidence": [ { "database": "UniProtKB", "id": "P35573", "url": "https://www.uniprot.org/uniprotkb/P35573" } ], "pmid": "" }, { "name": "glycogen biosynthetic process", "id": "GO:0005978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005978", "evidence": [ { "database": "UniProtKB", "id": "P35573", "url": "https://www.uniprot.org/uniprotkb/P35573" } ], "pmid": "" }, { "name": "glycogen catabolic process", "id": "GO:0005980", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005980", "evidence": [ { "database": "UniProtKB", "id": "P35573", "url": "https://www.uniprot.org/uniprotkb/P35573" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 1032, "end_pos": 1034, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1236, "end_pos": 1238, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1380, "end_pos": 1382, "annotation": "n_glycosylation_sequon" }, { "start_pos": 219, "end_pos": 221, "annotation": "n_glycosylation_sequon" }, { "start_pos": 797, "end_pos": 799, "annotation": "n_glycosylation_sequon" }, { "start_pos": 813, "end_pos": 815, "annotation": "n_glycosylation_sequon" }, { "start_pos": 839, "end_pos": 841, "annotation": "n_glycosylation_sequon" }, { "start_pos": 927, "end_pos": 929, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "Ubiquitinated.", "evidence": [ { "database": "UniProtKB", "id": "P35573", "url": "https://www.uniprot.org/uniprotkb/P35573" }, { "database": "PubMed", "id": "17908927", "url": "https://glygen.org/publication/PubMed/17908927" } ] } ], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "structures": [ { "pdb_id": "AF-P35573-F1", "pdb_chain": "global", "start_pos": 1, "end_pos": 1532, "overlap": "1.0", "method": "AlphaFold", "type": "alphafold", "resolution": -1.0, "url": "https://data.glygen.org/ln2downloads/pdb/current/AF-P35573-F1.pdb", "url_external": "https://alphafold.ebi.ac.uk/entry/P35573" }, { "pdb_id": "8zeq", "pdb_chain": "a", "start_pos": 1, "end_pos": 1532, "overlap": "1.0", "method": "Electron_Microscopy", "type": "experimental", "resolution": -1.0, "url": "https://data.glygen.org/ln2downloads/pdb/current/8zeq.pdb", "url_external": "https://www.rcsb.org/structure/8zeq" } ], "lectin_list": [], "domain_list": [], "binding_sites": [], "synthesized_glycans": [], "enzyme_annotation": [ { "ec_number": "2.4.1.25", "ec_name": "Transfers a segment of a (1->4)-alpha-D-glucan to a new position in an acceptor, which may be glucose or a (1->4)-alpha-D-glucan.", "evidence": [ { "id": "2.4.1.25", "database": "BRENDA Enzymes", "url": "https://www.brenda-enzymes.org/enzyme.php?ecno=2.4.1.25" } ] }, { "ec_number": "3.2.1.33", "ec_name": "Hydrolysis of (1->6)-alpha-D-glucosidic branch linkages in glycogen phosphorylase limit dextrin.", "evidence": [ { "id": "3.2.1.33", "database": "BRENDA Enzymes", "url": "https://www.brenda-enzymes.org/enzyme.php?ecno=3.2.1.33" } ] } ], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.agr", "label": "AGR Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [ 1130, 1474 ], "snv_sites": [ 1, 2, 3, 4, 6, 7, 8, 9, 10, 13, 14, 15, 16, 17, 19, 20, 21, 22, 23, 24, 25, 26, 28, 29, 30, 31, 32, 34, 35, 36, 38, 39, 40, 41, 42, 43, 44, 45, 46, 47, 48, 49, 50, 51, 53, 54, 55, 56, 57, 59, 61, 62, 63, 65, 67, 68, 69, 70, 72, 73, 74, 75, 76, 78, 79, 80, 81, 82, 83, 84, 85, 86, 88, 89, 90, 91, 92, 93, 97, 98, 99, 100, 102, 103, 104, 105, 106, 107, 108, 109, 110, 112, 113, 114, 115, 116, 117, 118, 119, 120, 121, 122, 123, 124, 125, 126, 127, 128, 129, 130, 132, 134, 135, 136, 137, 138, 139, 140, 141, 143, 144, 146, 147, 148, 149, 152, 153, 154, 155, 156, 157, 159, 164, 165, 166, 168, 170, 171, 172, 173, 174, 176, 177, 179, 180, 182, 183, 184, 185, 186, 187, 188, 189, 190, 191, 192, 193, 194, 195, 197, 199, 200, 201, 202, 203, 204, 205, 206, 207, 208, 210, 211, 212, 213, 214, 215, 216, 217, 218, 219, 220, 221, 222, 223, 224, 225, 226, 227, 229, 230, 231, 232, 234, 235, 236, 237, 240, 241, 242, 243, 245, 246, 247, 248, 251, 252, 253, 255, 256, 257, 258, 259, 261, 262, 264, 265, 267, 268, 269, 270, 271, 272, 273, 274, 275, 276, 278, 279, 280, 281, 283, 284, 285, 288, 289, 290, 291, 292, 294, 295, 296, 297, 298, 299, 300, 301, 303, 304, 306, 307, 308, 309, 310, 311, 312, 313, 314, 315, 316, 317, 318, 319, 320, 321, 322, 323, 325, 326, 327, 328, 329, 331, 332, 333, 334, 335, 336, 337, 339, 340, 341, 342, 343, 345, 346, 347, 348, 350, 352, 353, 354, 355, 358, 359, 360, 361, 362, 363, 364, 365, 366, 367, 368, 369, 370, 371, 372, 373, 375, 376, 377, 379, 380, 381, 382, 383, 384, 385, 386, 387, 388, 389, 390, 391, 392, 393, 394, 395, 396, 397, 399, 400, 402, 403, 404, 406, 407, 408, 409, 410, 411, 412, 413, 414, 415, 416, 417, 418, 419, 420, 421, 422, 423, 424, 425, 426, 427, 428, 429, 431, 432, 433, 436, 437, 439, 440, 441, 442, 443, 445, 446, 447, 450, 451, 452, 453, 454, 457, 458, 459, 460, 461, 462, 463, 464, 465, 466, 467, 468, 469, 470, 471, 473, 474, 475, 476, 477, 478, 479, 480, 481, 482, 483, 484, 486, 487, 488, 489, 490, 491, 492, 493, 494, 495, 496, 497, 498, 499, 500, 501, 502, 503, 504, 505, 506, 508, 509, 510, 512, 513, 514, 515, 517, 518, 519, 520, 522, 523, 524, 525, 526, 527, 528, 529, 530, 531, 532, 533, 534, 535, 536, 537, 538, 539, 541, 542, 543, 544, 546, 547, 548, 549, 550, 551, 553, 554, 556, 557, 558, 559, 560, 562, 563, 564, 565, 566, 567, 568, 570, 571, 572, 573, 574, 575, 576, 577, 578, 579, 581, 582, 583, 584, 585, 586, 587, 588, 589, 590, 591, 592, 593, 594, 595, 596, 597, 598, 600, 602, 603, 604, 606, 607, 608, 610, 611, 612, 614, 615, 616, 617, 619, 620, 621, 622, 623, 624, 625, 626, 627, 628, 629, 630, 631, 632, 633, 634, 635, 636, 637, 638, 639, 640, 641, 642, 643, 644, 645, 646, 647, 648, 649, 650, 651, 652, 654, 655, 656, 657, 658, 659, 660, 664, 665, 666, 667, 668, 669, 670, 671, 672, 674, 675, 678, 679, 680, 682, 683, 684, 685, 686, 687, 688, 690, 692, 695, 696, 697, 698, 699, 701, 702, 703, 705, 706, 707, 709, 710, 711, 712, 713, 715, 716, 717, 718, 719, 720, 721, 723, 725, 726, 727, 729, 730, 731, 732, 733, 735, 736, 737, 738, 739, 740, 741, 743, 744, 745, 746, 748, 749, 750, 752, 754, 755, 756, 757, 759, 760, 761, 764, 766, 767, 768, 769, 770, 772, 773, 774, 776, 777, 778, 780, 782, 783, 784, 785, 786, 788, 789, 790, 791, 793, 795, 796, 797, 798, 799, 800, 801, 802, 803, 804, 805, 806, 807, 808, 809, 810, 811, 813, 814, 815, 816, 817, 819, 820, 821, 822, 823, 824, 825, 827, 828, 829, 830, 831, 832, 833, 834, 835, 836, 837, 839, 840, 841, 842, 843, 844, 845, 846, 847, 849, 851, 852, 853, 854, 855, 856, 857, 859, 860, 862, 864, 865, 866, 867, 869, 871, 872, 873, 875, 877, 878, 879, 880, 882, 883, 884, 885, 886, 887, 890, 891, 892, 893, 894, 895, 896, 897, 898, 900, 901, 902, 903, 904, 905, 906, 907, 908, 909, 910, 911, 913, 914, 915, 918, 921, 922, 923, 924, 925, 926, 927, 928, 930, 931, 932, 933, 934, 935, 936, 937, 938, 939, 940, 941, 942, 943, 945, 946, 947, 948, 949, 950, 951, 952, 953, 954, 955, 956, 957, 958, 960, 962, 964, 965, 966, 967, 968, 969, 970, 971, 973, 974, 976, 977, 979, 981, 982, 984, 985, 986, 987, 988, 989, 991, 993, 994, 995, 997, 998, 999, 1000, 1001, 1002, 1003, 1004, 1005, 1007, 1008, 1009, 1010, 1011, 1012, 1013, 1014, 1015, 1016, 1017, 1018, 1020, 1022, 1023, 1024, 1026, 1027, 1028, 1029, 1030, 1031, 1032, 1033, 1034, 1035, 1036, 1038, 1039, 1040, 1041, 1042, 1043, 1044, 1045, 1046, 1048, 1049, 1050, 1051, 1052, 1054, 1055, 1056, 1057, 1058, 1059, 1060, 1061, 1062, 1064, 1065, 1067, 1068, 1069, 1071, 1072, 1073, 1074, 1075, 1076, 1077, 1078, 1079, 1080, 1081, 1083, 1084, 1086, 1087, 1089, 1090, 1092, 1093, 1094, 1095, 1097, 1098, 1099, 1100, 1101, 1102, 1103, 1104, 1105, 1106, 1107, 1108, 1109, 1110, 1111, 1113, 1115, 1116, 1117, 1118, 1119, 1120, 1121, 1123, 1124, 1125, 1126, 1128, 1129, 1130, 1131, 1132, 1134, 1135, 1136, 1137, 1138, 1139, 1140, 1141, 1143, 1144, 1145, 1146, 1147, 1148, 1149, 1150, 1151, 1152, 1153, 1154, 1155, 1156, 1157, 1159, 1160, 1161, 1162, 1163, 1164, 1165, 1166, 1167, 1168, 1169, 1170, 1171, 1172, 1173, 1174, 1175, 1176, 1177, 1178, 1179, 1180, 1181, 1182, 1183, 1184, 1185, 1186, 1187, 1189, 1190, 1191, 1192, 1193, 1194, 1195, 1198, 1199, 1202, 1203, 1204, 1205, 1206, 1207, 1208, 1209, 1210, 1211, 1212, 1213, 1214, 1215, 1217, 1218, 1219, 1220, 1221, 1222, 1223, 1224, 1225, 1226, 1227, 1228, 1230, 1231, 1232, 1233, 1236, 1237, 1238, 1239, 1240, 1242, 1243, 1244, 1245, 1248, 1249, 1250, 1251, 1252, 1253, 1254, 1255, 1256, 1258, 1259, 1260, 1261, 1263, 1264, 1265, 1266, 1267, 1268, 1269, 1270, 1271, 1272, 1273, 1274, 1275, 1276, 1277, 1278, 1279, 1280, 1281, 1282, 1285, 1286, 1287, 1288, 1289, 1290, 1291, 1292, 1293, 1295, 1297, 1299, 1300, 1304, 1305, 1306, 1307, 1308, 1309, 1310, 1312, 1313, 1314, 1316, 1317, 1319, 1320, 1321, 1322, 1323, 1324, 1325, 1326, 1327, 1328, 1329, 1330, 1331, 1332, 1333, 1334, 1336, 1339, 1340, 1342, 1343, 1346, 1347, 1348, 1349, 1350, 1351, 1352, 1354, 1355, 1357, 1358, 1359, 1360, 1361, 1362, 1363, 1364, 1365, 1366, 1367, 1368, 1369, 1370, 1371, 1372, 1373, 1374, 1375, 1376, 1377, 1378, 1379, 1380, 1381, 1382, 1383, 1384, 1385, 1388, 1389, 1390, 1391, 1392, 1393, 1394, 1395, 1396, 1397, 1398, 1399, 1400, 1402, 1403, 1404, 1405, 1407, 1408, 1409, 1410, 1411, 1413, 1414, 1415, 1416, 1417, 1418, 1419, 1420, 1421, 1422, 1423, 1424, 1425, 1426, 1427, 1428, 1429, 1430, 1431, 1432, 1433, 1434, 1435, 1436, 1437, 1438, 1439, 1440, 1442, 1443, 1444, 1445, 1446, 1447, 1448, 1450, 1451, 1452, 1453, 1454, 1455, 1456, 1457, 1458, 1459, 1460, 1461, 1462, 1464, 1465, 1466, 1468, 1469, 1470, 1471, 1472, 1473, 1474, 1475, 1477, 1478, 1479, 1480, 1481, 1483, 1484, 1485, 1486, 1487, 1488, 1489, 1491, 1493, 1494, 1495, 1496, 1498, 1499, 1501, 1502, 1503, 1504, 1505, 1507, 1508, 1509, 1510, 1511, 1512, 1513, 1514, 1515, 1516, 1518, 1519, 1520, 1521, 1522, 1523, 1524, 1525, 1526, 1527, 1528, 1529, 1530, 1531, 1532 ], "sites_with_glycoeffect": [ 1124, 1124, 1130, 1130, 1290, 1306, 1321, 1340, 1436, 1438, 1440, 1474, 1474, 1507, 179, 191, 211, 242, 284, 499, 51, 643, 654, 690, 70, 70, 755, 75, 831, 1001, 1001, 1001, 1015, 1016, 1017, 1017, 1027, 1028, 1028, 102, 102, 1032, 1034, 1035, 1035, 1041, 1044, 1044, 1055, 1055, 1055, 1060, 1060, 1068, 106, 106, 106, 1074, 1083, 1092, 1093, 1093, 1117, 1117, 1117, 1117, 1145, 1145, 1148, 1148, 1164, 1180, 1180, 1183, 1183, 1185, 1185, 1195, 1195, 1195, 1236, 1236, 1238, 1245, 1245, 1245, 1245, 1249, 1249, 1258, 1258, 1266, 1266, 1277, 1282, 1282, 1282, 128, 1290, 1292, 1308, 1312, 1323, 1324, 1342, 1342, 1346, 1362, 1362, 1365, 1366, 1369, 1370, 1370, 1375, 1380, 1382, 1382, 1393, 1393, 1394, 1394, 1394, 1416, 1416, 1416, 1424, 1424, 1424, 1424, 1428, 1428, 1437, 1437, 1445, 1445, 1457, 1457, 1457, 1464, 1464, 1464, 1466, 1473, 1473, 1486, 1486, 1489, 1489, 1495, 1495, 1504, 1510, 1510, 1514, 1514, 1521, 1521, 1521, 1524, 1528, 1528, 1530, 1530, 153, 155, 155, 165, 171, 171, 173, 174, 186, 186, 192, 192, 193, 193, 214, 218, 219, 219, 21, 221, 225, 225, 236, 241, 241, 258, 258, 283, 283, 29, 318, 318, 327, 334, 334, 334, 341, 347, 347, 355, 355, 355, 383, 383, 38, 38, 38, 391, 406, 420, 427, 429, 431, 440, 440, 45, 476, 479, 47, 48, 490, 490, 490, 495, 495, 4, 4, 504, 50, 512, 512, 512, 512, 518, 518, 519, 530, 530, 531, 531, 538, 538, 551, 558, 560, 560, 560, 56, 574, 575, 582, 582, 584, 586, 594, 594, 596, 596, 596, 603, 603, 625, 625, 625, 628, 628, 628, 630, 630, 630, 636, 638, 644, 645, 648, 648, 648, 654, 656, 657, 657, 660, 669, 669, 672, 678, 678, 687, 696, 706, 706, 721, 733, 733, 733, 736, 736, 738, 738, 756, 757, 757, 757, 759, 759, 760, 760, 760, 786, 786, 786, 789, 795, 795, 795, 797, 797, 798, 799, 803, 803, 803, 80, 80, 80, 813, 813, 825, 825, 831, 831, 839, 839, 841, 841, 841, 844, 844, 851, 871, 871, 878, 878, 88, 88, 894, 894, 894, 897, 897, 909, 909, 90, 90, 90, 913, 913, 923, 927, 927, 927, 933, 933, 933, 93, 941, 941, 941, 962, 962, 969, 969, 969, 971, 976, 994, 994 ], "glycation_sites": [], "phosphorylation_sites": [ 64, 584, 1477 ], "sequon_annotation_sites": [ { "start_pos": 1032, "end_pos": 1034 }, { "start_pos": 1236, "end_pos": 1238 }, { "start_pos": 1380, "end_pos": 1382 }, { "start_pos": 219, "end_pos": 221 }, { "start_pos": 797, "end_pos": 799 }, { "start_pos": 813, "end_pos": 815 }, { "start_pos": 839, "end_pos": 841 }, { "start_pos": 927, "end_pos": 929 } ] }, "class_list": [ "glycogene", "glycosylhydrolase", "glycosyltransferase" ], "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 2 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 2 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 2 }, { "field": "exact_o_linked_sites", "count": 2 }, { "field": "exact_o_linked_glycan_sites", "count": 2 }, { "field": "exact_o_linked_glycans", "count": 1 }, { "field": "fuzzy_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 2 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 2 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "exact_sites", "count": 2 }, { "field": "exact_o_linked_sites", "count": 2 }, { "field": "exact_o_linked_glycan_sites", "count": 2 }, { "field": "exact_o_linked_glycans", "count": 1 }, { "field": "fuzzy_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 3 }, { "field": "total_sites", "count": 3 } ], "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": 2406 }, { "field": "total_sites", "count": 1292 } ], "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": 1531 }, { "field": "total_sites", "count": 1003 } ], "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": 875 }, { "field": "total_sites", "count": 698 } ], "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": "publication", "table_stats": [ { "field": "total", "count": 102 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] } ]