{ "uniprot_canonical_ac": "O95352-1", "uniprot_ac": "O95352", "uniprot_id": "ATG7_HUMAN", "mass": { "chemical_mass": 77960.0, "monoisotopic_mass": 77960.0 }, "refseq": { "ac": "NP_001129503", "name": "ubiquitin-like modifier-activating enzyme ATG7 isoform b", "summary": "This gene encodes an E1-like activating enzyme that is essential for autophagy and cytoplasmic to vacuole transport. The encoded protein is also thought to modulate p53-dependent cell cycle pathways during prolonged metabolic stress. It has been associated with multiple functions, including axon membrane trafficking, axonal homeostasis, mitophagy, adipose differentiation, and hematopoietic stem cell maintenance. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129503" }, "gene_names": [ { "name": "ATG7", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O95352", "id": "O95352" }, { "name": "APG7-LIKE; APG7L; GSA7; SCAR31", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129503", "id": "NP_001129503" }, { "name": "APG7L", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O95352", "id": "O95352" }, { "name": "ATG7", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129503", "id": "NP_001129503" } ], "protein_names": [ { "name": "Ubiquitin-like modifier-activating enzyme ATG7", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O95352" }, { "name": "APG7-like", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95352" }, { "name": "ATG12-activating enzyme E1 ATG7", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95352" }, { "name": "Autophagy-related protein 7", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95352" }, { "name": "Ubiquitin-activating enzyme E1-like protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95352" }, { "name": "hAGP7", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95352" }, { "name": "ubiquitin-like modifier-activating enzyme ATG7 isoform b", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129503", "id": "NP_001129503" }, { "name": "ubiquitin-like modifier-activating enzyme ATG7; ATG12-activating enzyme E1 ATG7; hAGP7; ubiquitin-activating enzyme E1-like protein; APG7 autophagy 7-like", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129503", "id": "NP_001129503" } ], "function": [ { "annotation": "ATG7-mediated autophagy protects human gingival myofibroblasts from irradiation-induced apoptosis.", "evidence": [ { "database": "RefSeq", "id": "NP_001129503", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129503" }, { "database": "PubMed", "id": "37876026", "url": "https://glygen.org/publication/PubMed/37876026" } ] }, { "annotation": "Cytoplasmic Expression of TP53INP2 Modulated by Demethylase FTO and Mutant NPM1 Promotes Autophagy in Leukemia Cells. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001129503", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129503" }, { "database": "PubMed", "id": "36675134", "url": "https://glygen.org/publication/PubMed/36675134" } ] }, { "annotation": "E1-like activating enzyme involved in the 2 ubiquitin-like systems required for cytoplasm to vacuole transport (Cvt) and autophagy. Activates ATG12 for its conjugation with ATG5 as well as the ATG8 family proteins for their conjugation with phosphatidylethanolamine. Both systems are needed for the ATG8 association to Cvt vesicles and autophagosomes membranes. Required for autophagic death induced by caspase-8 inhibition. Facilitates LC3-I lipidation with phosphatidylethanolamine to form LC3-II which is found on autophagosomal membranes (PubMed:34161705). Required for mitophagy which contributes to regulate mitochondrial quantity and quality by eliminating the mitochondria to a basal level to fulfill cellular energy requirements and preventing excess ROS production. Modulates p53/TP53 activity to regulate cell cycle and survival during metabolic stress. Also plays a key role in the maintenance of axonal homeostasis, the prevention of axonal degeneration, the maintenance of hematopoietic stem cells, the formation of Paneth cell granules, as well as in adipose differentiation. Plays a role in regulating the liver clock and glucose metabolism by mediating the autophagic degradation of CRY1 (clock repressor) in a time-dependent manner (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "O95352", "url": "https://www.uniprot.org/uniprot/O95352#function" }, { "database": "PubMed", "id": "22170151", "url": "https://glygen.org/publication/PubMed/22170151" }, { "database": "PubMed", "id": "34161705", "url": "https://glygen.org/publication/PubMed/34161705" }, { "database": "PubMed", "id": "16303767", "url": "https://glygen.org/publication/PubMed/16303767" }, { "database": "PubMed", "id": "11096062", "url": "https://glygen.org/publication/PubMed/11096062" }, { "database": "UniProtKB", "id": "Q9D906", "url": "https://www.uniprot.org/uniprot/Q9D906#function" } ] }, { "annotation": "Improved Analysis of Prostate Cancer: VIM3, ATG7 and P53 Form a Complex and Activate miRNA 371a-3p.", "evidence": [ { "database": "RefSeq", "id": "NP_001129503", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129503" }, { "database": "PubMed", "id": "37247912", "url": "https://glygen.org/publication/PubMed/37247912" } ] }, { "annotation": "Increased Hepatic ATG7 mRNA and ATG7 Protein Expression in Nonalcoholic Steatohepatitis Associated with Obesity. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001129503", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129503" }, { "database": "PubMed", "id": "36674839", "url": "https://glygen.org/publication/PubMed/36674839" } ] }, { "annotation": "This gene encodes an E1-like activating enzyme that is essential for autophagy and cytoplasmic to vacuole transport. The encoded protein is also thought to modulate p53-dependent cell cycle pathways during prolonged metabolic stress. It has been associated with multiple functions, including axon membrane trafficking, axonal homeostasis, mitophagy, adipose differentiation, and hematopoietic stem cell maintenance. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015].", "evidence": [ { "database": "RefSeq", "id": "NP_001129503", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129503" } ] } ], "disease": [ { "disease_id": "DOID:0070412", "recommended_name": { "id": "DOID:0070412", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070412", "name": "autosomal recessive spinocerebellar ataxia 31", "description": "An autosomal recessive cerebellar ataxia characterized by global developmental delay with hypotonia and variably impaired intellectual and language development that has_material_basis_in homozygous or compound heterozygous mutation in the ATG7 gene on chromosome 3p25." }, "synonyms": [ { "id": "DOID:0070412", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070412", "name": "SCAR31", "description": "" }, { "id": "MONDO:0030323", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030323", "name": "spinocerebellar ataxia, autosomal recessive 31", "description": "" }, { "id": "MONDO:0030323", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030323", "name": "SCAR31", "description": "" }, { "id": "MONDO:0030323", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030323", "name": "spinocerebellar ataxia, autosomal recessive 31", "description": "" }, { "id": "MIM:619422", "resource": "MIM", "url": "https://www.omim.org/entry/619422", "name": "Spinocerebellar ataxia, autosomal recessive, 31", "description": "Spinocerebellar ataxia, autosomal recessive, 31" } ], "evidence": [ { "id": "619422", "database": "MIM", "url": "https://www.omim.org/entry/619422" } ] } ], "snv": [], "mutagenesis": [ { "start_pos": 15, "end_pos": 15, "sequence_org": "F", "sequence_mut": "D", "comment": "Impairs conjugation activity; when associated with D-16 and D-17.", "evidence": [ { "database": "UniProtKB", "id": "O95352", "url": "https://www.uniprot.org/uniprot/O95352" }, { "database": "PubMed", "id": "22170151", "url": "https://glygen.org/publication/PubMed/22170151" } ] }, { "start_pos": 16, "end_pos": 16, "sequence_org": "A", "sequence_mut": "D", "comment": "Impairs conjugation activity; when associated with D-15 and D-17.", "evidence": [ { "database": "UniProtKB", "id": "O95352", "url": "https://www.uniprot.org/uniprot/O95352" }, { "database": "PubMed", "id": "22170151", "url": "https://glygen.org/publication/PubMed/22170151" } ] }, { "start_pos": 17, "end_pos": 17, "sequence_org": "P", "sequence_mut": "D", "comment": "Impairs conjugation activity; when associated with D-15 and D-16.", "evidence": [ { "database": "UniProtKB", "id": "O95352", "url": "https://www.uniprot.org/uniprot/O95352" }, { "database": "PubMed", "id": "22170151", "url": "https://glygen.org/publication/PubMed/22170151" } ] }, { "start_pos": 572, "end_pos": 572, "sequence_org": "C", "sequence_mut": "A", "comment": "Loss of LC3-I lipidation to form LC3-II.", "evidence": [ { "database": "UniProtKB", "id": "O95352", "url": "https://www.uniprot.org/uniprot/O95352" }, { "database": "PubMed", "id": "34161705", "url": "https://glygen.org/publication/PubMed/34161705" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "72.84", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000197548", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000197548" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "79.96", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000197548", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000197548" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "80.07", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000197548", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000197548" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "49.96", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000197548", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000197548" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "88.02", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000197548", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000197548" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "90", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000197548", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000197548" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "58.54", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000197548", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000197548" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "80.41", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000197548", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000197548" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "81.67", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000197548", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000197548" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "59.85", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000197548", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000197548" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "83.39", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000197548", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000197548" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "83.29", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000197548", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000197548" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "85.08", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000197548", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000197548" } ] } ], "expression_disease": [ { "significant": "No", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O95352", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95352" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL 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"name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, 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"http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - 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"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", 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"DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant 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"https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O95352", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95352" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95352" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine 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"MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "O95352", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95352" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O95352", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95352" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "O95352", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95352" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "O95352", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95352" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95352" } ], "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ] }, { "significant": "No", "trend": "down", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "O95352", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95352" } ], "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is 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"http://pfam.xfam.org/family/PF16420", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O95352", "url": "https://pharos.nih.gov/targets/O95352", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O95352", "url": "http://purl.obolibrary.org/obo/PR_O95352", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-1632852", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1632852", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-6798695", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6798695", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-6802952", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6802952", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-983168", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983168", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001129503", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129503", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "C9J415", "url": "https://www.uniprot.org/uniprot/C9J415", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9J415-1", "url": "https://www.uniprot.org/uniprot/C9J415-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JE55", "url": "https://www.uniprot.org/uniprot/C9JE55", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JE55-1", "url": "https://www.uniprot.org/uniprot/C9JE55-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JFF4", "url": "https://www.uniprot.org/uniprot/C9JFF4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JFF4-1", "url": "https://www.uniprot.org/uniprot/C9JFF4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JGL2", "url": "https://www.uniprot.org/uniprot/C9JGL2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JGL2-1", "url": "https://www.uniprot.org/uniprot/C9JGL2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JKA3", "url": "https://www.uniprot.org/uniprot/C9JKA3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JKA3-1", "url": "https://www.uniprot.org/uniprot/C9JKA3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JNU2", "url": "https://www.uniprot.org/uniprot/C9JNU2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JNU2-1", "url": "https://www.uniprot.org/uniprot/C9JNU2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7BZ92", "url": "https://www.uniprot.org/uniprot/H7BZ92", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7BZ92-1", "url": "https://www.uniprot.org/uniprot/H7BZ92-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7C059", "url": "https://www.uniprot.org/uniprot/H7C059", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7C059-1", "url": "https://www.uniprot.org/uniprot/H7C059-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7C2J8", "url": "https://www.uniprot.org/uniprot/H7C2J8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7C2J8-1", "url": "https://www.uniprot.org/uniprot/H7C2J8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7C2R3", "url": "https://www.uniprot.org/uniprot/H7C2R3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7C2R3-1", "url": "https://www.uniprot.org/uniprot/H7C2R3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7C369", "url": "https://www.uniprot.org/uniprot/H7C369", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7C369-1", "url": "https://www.uniprot.org/uniprot/H7C369-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95352", "url": "https://www.uniprot.org/uniprot/O95352", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95352-1", "url": "https://www.uniprot.org/uniprot/O95352-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95352-2", "url": "https://www.uniprot.org/uniprot/O95352-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95352-3", "url": "https://www.uniprot.org/uniprot/O95352-3", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MAAATGDPGLSKLQFAPFSSALDVGFWHELTQKKLNEYRLDEAPKDIKGYYYNGDSAGLPARLTLEFSAFDMSAPTPARCCPAIGTLYNTNTLESFKTADKKLLLEQAANEIWESIKSGTALENPVLLNKFLLLTFADLKKYHFYYWFCYPALCLPESLPLIQGPVGLDQRFSLKQIEALECAYDNLCQTEGVTALPYFLIKYDENMVLVSLLKHYSDFFQGQRTKITIGVYDPCNLAQYPGWPLRNFLVLAAHRWSSSFQSVEVVCFRDRTMQGARDVAHSIIFEVKLPEMAFSPDCPKAVGWEKNQKGGMGPRMVNLSECMDPKRLAESSVDLNLKLMCWRLVPTLDLDKVVSVKCLLLGAGTLGCNVARTLMGWGVRHITFVDNAKISYSNPVRQPLYEFEDCLGGGKPKALAAADRLQKIFPGVNARGFNMSIPMPGHPVNFSSVTLEQARRDVEQLEQLIESHDVVFLLMDTRESRWLPAVIAASKRKLVINAALGFDTFVVMRHGLKKPKQQGAGDLCPNHPVASADLLGSSLFANIPGYKLGCYFCNDVVAPGDSTRDRTLDQQCTVSRPGLAVIAGALAVELMVSVLQHPEGGYAIASSSDDRMNEPPTSLGLVPHQIRGFLSRFDNVLPVSLAFDKCTACSSKVLDQYEREGFNFLAKVFNSSHSFLEDLTGLTLLHQETQAAEIWDMSDDETI", "length": 703, "header": "sp|O95352-1|ATG7_HUMAN Isoform 1 of Ubiquitin-like modifier-activating enzyme ATG7 OS=Homo sapiens OX=9606 GN=ATG7 PE=1 SV=1 CANONICAL=O95352-1" }, "isoforms": [ { "isoform_ac": "C9J415-1", "url": "", "sequence": { "sequence": "MAAATGDPGLSKLQFAPFSSALDVGFWHELTQKKLNEYRLDEAPKDIKGYYYNGDSAGLPARLTLEFSAFDMSAPTPARCCPAIGTLYNTNTLESFKTADKKLLLEQAANEIWESIKSGTALENPVLLNKFLLLTFAIEALECAYDNLCQTE", "length": 152, "header": "tr|C9J415-1|C9J415_HUMAN Computationally mapped isoform of Autophagy related 7 OS=Homo sapiens OX=9606 GN=ATG7 PE=1 SV=1 CANONICAL=O95352-1" }, "locus": { "chromosome": "3", "start_pos": 11315388, "end_pos": 11298696, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000451830.5", "url": "https://www.ensembl.org/id/ENST00000451830.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000411880.1", "url": "https://www.ensembl.org/id/ENSP00000411880.1" } ] } }, { "isoform_ac": "C9JE55-1", "url": "", "sequence": { "sequence": "MAAATGDPGLSKLQFAPFSSALDVGFWHELTQKKLNEYRLDEAPKDIKGYYYNGDSAGLPARLTLEFSAFDMSAPTPARCCPAIGTLYNTNTLESFKTADKKLLLEQAANEIWESIKSGTALENPV", "length": 126, "header": "tr|C9JE55-1|C9JE55_HUMAN Computationally mapped isoform of Autophagy related 7 OS=Homo sapiens OX=9606 GN=ATG7 PE=1 SV=1 CANONICAL=O95352-1" }, "locus": { "chromosome": "3", "start_pos": 11309028, "end_pos": 11298696, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000423116.1", "url": "https://www.ensembl.org/id/ENST00000423116.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000416644.1", "url": "https://www.ensembl.org/id/ENSP00000416644.1" } ] } }, { "isoform_ac": "C9JFF4-1", "url": "", "sequence": { "sequence": "MAAATGDPGLSKLQFAPFSSALDVGFWHELTQKKLNEYRLDEAPKDIKGYYYNGDSAGLPARLTLEFSAFDMSAPTPARCCPAIGTLYNTNTLESFKTADKKLLLEQAANEIWESIKSGTALENPVLLNKFLLLTFADLKKYHFYYWFCYPALCLPESLPLIQGPVGLDQRFSLKQ", "length": 176, "header": "tr|C9JFF4-1|C9JFF4_HUMAN Computationally mapped isoform of Autophagy related 7 OS=Homo sapiens OX=9606 GN=ATG7 PE=1 SV=1 CANONICAL=O95352-1" }, "locus": { "chromosome": "3", "start_pos": 11313420, "end_pos": 11298696, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000451513.5", "url": "https://www.ensembl.org/id/ENST00000451513.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000415223.1", "url": "https://www.ensembl.org/id/ENSP00000415223.1" } ] } }, { "isoform_ac": "C9JGL2-1", "url": "", "sequence": { "sequence": "MAAATGDPGLSKLQFAPFSSALDVGFWHELTQKKLNEYRLDEAPKDIKGYYYNGDSAGLPARLTLEFSAFDIYGNP", "length": 76, "header": "tr|C9JGL2-1|C9JGL2_HUMAN Computationally mapped isoform of Autophagy related 7 OS=Homo sapiens OX=9606 GN=ATG7 PE=1 SV=2 CANONICAL=O95352-1" }, "locus": { "chromosome": "3", "start_pos": 11308996, "end_pos": 11298696, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000418682.5", "url": "https://www.ensembl.org/id/ENST00000418682.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000389012.1", "url": "https://www.ensembl.org/id/ENSP00000389012.1" } ] } }, { "isoform_ac": "C9JKA3-1", "url": "", "sequence": { "sequence": "MAAATGDPGLSKLQFAPFSSALDVGFWHELTQKKLNEYRLDEAPKDIKGYYYNGDSAGLPARLTLEFSAFDMSAPTPARCCPAIGTLYNTNTL", "length": 93, "header": "tr|C9JKA3-1|C9JKA3_HUMAN Computationally mapped isoform of Autophagy related 7 OS=Homo sapiens OX=9606 GN=ATG7 PE=1 SV=1 CANONICAL=O95352-1" }, "locus": { "chromosome": "3", "start_pos": 11307006, "end_pos": 11298696, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000444619.5", "url": "https://www.ensembl.org/id/ENST00000444619.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000389996.1", "url": "https://www.ensembl.org/id/ENSP00000389996.1" } ] } }, { "isoform_ac": "C9JNU2-1", "url": "", "sequence": { "sequence": "MAAATGDPGLSKLQFAPFSSALDVGFWHELTQKKLNEYRLDEAPKDIKGYYYNGDSAGLPARLTLEFSAFDMSAPTPARCCPAIGTLYN", "length": 89, "header": "tr|C9JNU2-1|ATG7_HUMAN Computationally mapped isoform of Ubiquitin-like modifier-activating enzyme ATG7 OS=Homo sapiens OX=9606 GN=ATG7 PE=1 SV=1 CANONICAL=O95352-1" }, "locus": { "chromosome": "3", "start_pos": 11306994, "end_pos": 11298696, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000419112.5", "url": "https://www.ensembl.org/id/ENST00000419112.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000408303.1", "url": "https://www.ensembl.org/id/ENSP00000408303.1" } ] } }, { "isoform_ac": "H7BZ92-1", "url": "", "sequence": { "sequence": "XGYAIASSSDDRMNEPPTSLGLVPHQIRGFLSRFDNVLPVSLAFDKCTACSSKVLDQYEREGFNFLAKVFNSSHSFLEDLTGLTLLHQETQAAEHL", "length": 96, "header": "tr|H7BZ92-1|H7BZ92_HUMAN Computationally mapped isoform of Autophagy related 7 OS=Homo sapiens OX=9606 GN=ATG7 PE=1 SV=1 CANONICAL=O95352-1" }, "locus": { "chromosome": "3", "start_pos": 11477140, "end_pos": 11364658, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000427759.5", "url": "https://www.ensembl.org/id/ENST00000427759.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000388295.1", "url": "https://www.ensembl.org/id/ENSP00000388295.1" } ] } }, { "isoform_ac": "H7C059-1", "url": "", "sequence": { "sequence": "PALCLPESLPLIQGPVGLDQRFSLKQIEALECAYDNLCQTEGVTALPYFLIKYDENMVLVSLLKHYSDFFQGQRTKITIGVYDPCNLAQYPGWPLRNFLVLAAHR", "length": 105, "header": "tr|H7C059-1|ATG7_HUMAN Computationally mapped isoform of Ubiquitin-like modifier-activating enzyme ATG7 OS=Homo sapiens OX=9606 GN=ATG7 PE=1 SV=1 CANONICAL=O95352-1" }, "locus": { "chromosome": "3", "start_pos": 11331428, "end_pos": 11313343, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000434066.6", "url": "https://www.ensembl.org/id/ENST00000434066.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000393075.2", "url": "https://www.ensembl.org/id/ENSP00000393075.2" } ] } }, { "isoform_ac": "H7C2J8-1", "url": "", "sequence": { "sequence": "XGYAIASSSDDRMNEPPTSLGLVPHQIRGFLSRFDNVLPVSLAFDKCTACSSKVLDQYEREGFNFLAKVFNSSHSFLEDLTGLTLLHQETQAAEDHLSFIRPKNGTFPAHQATCTQESAACPEIDLYQLSSRTIPCIHT", "length": 139, "header": "tr|H7C2J8-1|H7C2J8_HUMAN Computationally mapped isoform of Autophagy related 7 OS=Homo sapiens OX=9606 GN=ATG7 PE=1 SV=1 CANONICAL=O95352-1" }, "locus": { "chromosome": "3", "start_pos": 11510321, "end_pos": 11364659, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000446110.1", "url": "https://www.ensembl.org/id/ENST00000446110.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000406398.1", "url": "https://www.ensembl.org/id/ENSP00000406398.1" } ] } }, { "isoform_ac": "H7C2R3-1", "url": "", "sequence": { "sequence": "RGYAIASSSDDRMNEPPTSLGLVPHQIRGFLSRFDNVLPVSLAFDKCTACSSKVLDQYEREGFNFLAKVFNSSHSFLEDLTGLTLLHQETQAAEH", "length": 95, "header": "tr|H7C2R3-1|H7C2R3_HUMAN Computationally mapped isoform of Autophagy related 7 OS=Homo sapiens OX=9606 GN=ATG7 PE=1 SV=1 CANONICAL=O95352-1" }, "locus": { "chromosome": "3", "start_pos": 11446511, "end_pos": 11364657, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000414717.5", "url": "https://www.ensembl.org/id/ENST00000414717.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000407340.1", "url": "https://www.ensembl.org/id/ENSP00000407340.1" } ] } }, { "isoform_ac": "H7C369-1", "url": "", "sequence": { "sequence": "XALENPVLLNKFLLLTFADLKKYHFYYWFCYPALCLPESLPLIQGPVGLDQRFSLKQIVLKQLDGKRTRKEAWDQGW", "length": 77, "header": "tr|H7C369-1|H7C369_HUMAN Computationally mapped isoform of Autophagy related 7 OS=Homo sapiens OX=9606 GN=ATG7 PE=1 SV=1 CANONICAL=O95352-1" }, "locus": { "chromosome": "3", "start_pos": 11340705, "end_pos": 11309009, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000424071.5", "url": "https://www.ensembl.org/id/ENST00000424071.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000409844.1", "url": "https://www.ensembl.org/id/ENSP00000409844.1" } ] } }, { "isoform_ac": "O95352-1", "url": "", "sequence": { "sequence": "MAAATGDPGLSKLQFAPFSSALDVGFWHELTQKKLNEYRLDEAPKDIKGYYYNGDSAGLPARLTLEFSAFDMSAPTPARCCPAIGTLYNTNTLESFKTADKKLLLEQAANEIWESIKSGTALENPVLLNKFLLLTFADLKKYHFYYWFCYPALCLPESLPLIQGPVGLDQRFSLKQIEALECAYDNLCQTEGVTALPYFLIKYDENMVLVSLLKHYSDFFQGQRTKITIGVYDPCNLAQYPGWPLRNFLVLAAHRWSSSFQSVEVVCFRDRTMQGARDVAHSIIFEVKLPEMAFSPDCPKAVGWEKNQKGGMGPRMVNLSECMDPKRLAESSVDLNLKLMCWRLVPTLDLDKVVSVKCLLLGAGTLGCNVARTLMGWGVRHITFVDNAKISYSNPVRQPLYEFEDCLGGGKPKALAAADRLQKIFPGVNARGFNMSIPMPGHPVNFSSVTLEQARRDVEQLEQLIESHDVVFLLMDTRESRWLPAVIAASKRKLVINAALGFDTFVVMRHGLKKPKQQGAGDLCPNHPVASADLLGSSLFANIPGYKLGCYFCNDVVAPGDSTRDRTLDQQCTVSRPGLAVIAGALAVELMVSVLQHPEGGYAIASSSDDRMNEPPTSLGLVPHQIRGFLSRFDNVLPVSLAFDKCTACSSKVLDQYEREGFNFLAKVFNSSHSFLEDLTGLTLLHQETQAAEIWDMSDDETI", "length": 703, "header": "sp|O95352-1|ATG7_HUMAN Isoform 1 of Ubiquitin-like modifier-activating enzyme ATG7 OS=Homo sapiens OX=9606 GN=ATG7 PE=1 SV=1 CANONICAL=O95352-1" }, "locus": { "chromosome": "3", "start_pos": 11554840, "end_pos": 11298696, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000354449.7", "url": "https://www.ensembl.org/id/ENST00000354449.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000346437.3", "url": "https://www.ensembl.org/id/ENSP00000346437.3" } ] } }, { "isoform_ac": "O95352-2", "url": "", "sequence": { "sequence": "MAAATGDPGLSKLQFAPFSSALDVGFWHELTQKKLNEYRLDEAPKDIKGYYYNGDSAGLPARLTLEFSAFDMSAPTPARCCPAIGTLYNTNTLESFKTADKKLLLEQAANEIWESIKSGTALENPVLLNKFLLLTFADLKKYHFYYWFCYPALCLPESLPLIQGPVGLDQRFSLKQIEALECAYDNLCQTEGVTALPYFLIKYDENMVLVSLLKHYSDFFQGQRTKITIGVYDPCNLAQYPGWPLRNFLVLAAHRWSSSFQSVEVVCFRDRTMQGARDVAHSIIFEVKLPEMAFSPDCPKAVGWEKNQKGGMGPRMVNLSECMDPKRLAESSVDLNLKLMCWRLVPTLDLDKVVSVKCLLLGAGTLGCNVARTLMGWGVRHITFVDNAKISYSNPVRQPLYEFEDCLGGGKPKALAAADRLQKIFPGVNARGFNMSIPMPGHPVNFSSVTLEQARRDVEQLEQLIESHDVVFLLMDTRESRWLPAVIAASKRKLVINAALGFDTFVVMRHGLKKPKQQGAGDLCPNHPVASADLLGSSLFANIPGYKLGCYFCNDVVAPGDSTRDRTLDQQCTVSRPGLAVIAGALAVELMVSVLQHPEGGYAIASSSDDRMNEPPTSLGLVPHQVLDQYEREGFNFLAKVFNSSHSFLEDLTGLTLLHQETQAAEIWDMSDDETI", "length": 676, "header": "sp|O95352-2|ATG7_HUMAN Isoform 2 of Ubiquitin-like modifier-activating enzyme ATG7 OS=Homo sapiens OX=9606 GN=ATG7 PE=1 SV=1 CANONICAL=O95352-1" }, "locus": { "chromosome": "3", "start_pos": 11554840, "end_pos": 11298696, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000354956.9", "url": "https://www.ensembl.org/id/ENST00000354956.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000347042.5", "url": "https://www.ensembl.org/id/ENSP00000347042.5" } ] } }, { "isoform_ac": "O95352-3", "url": "", "sequence": { "sequence": "MAAATGDPGLSKLQFAPFSSALDVGFWHELTQKKLNEYRLDEAPKDIKGYYYNGDSAGLPARLTLEFSAFDMSAPTPARCCPAIGTLYNTNTLESFKTADKKLLLEQAANEIWESIKSGTALENPVLLNKFLLLTFAIEALECAYDNLCQTEGVTALPYFLIKYDENMVLVSLLKHYSDFFQGQRTKITIGVYDPCNLAQYPGWPLRNFLVLAAHRWSSSFQSVEVVCFRDRTMQGARDVAHSIIFEVKLPEMAFSPDCPKAVGWEKNQKGGMGPRMVNLSECMDPKRLAESSVDLNLKLMCWRLVPTLDLDKVVSVKCLLLGAGTLGCNVARTLMGWGVRHITFVDNAKISYSNPVRQPLYEFEDCLGGGKPKALAAADRLQKIFPGVNARGFNMSIPMPGHPVNFSSVTLEQARRDVEQLEQLIESHDVVFLLMDTRESRWLPAVIAASKRKLVINAALGFDTFVVMRHGLKKPKQQGAGDLCPNHPVASADLLGSSLFANIPGYKLGCYFCNDVVAPGDSTRDRTLDQQCTVSRPGLAVIAGALAVELMVSVLQHPEGGYAIASSSDDRMNEPPTSLGLVPHQIRGFLSRFDNVLPVSLAFDKCTACSSKIWDMSDDETI", "length": 623, "header": "sp|O95352-3|ATG7_HUMAN Isoform 3 of Ubiquitin-like modifier-activating enzyme ATG7 OS=Homo sapiens OX=9606 GN=ATG7 PE=1 SV=1 CANONICAL=O95352-1" }, "locus": { "chromosome": "3", "start_pos": 11554840, "end_pos": 11298696, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000446450.6", "url": "https://www.ensembl.org/id/ENST00000446450.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000412580.2", "url": "https://www.ensembl.org/id/ENSP00000412580.2" } ] } } ], "glycosylation": [], "phosphorylation": [ { "start_pos": 698, "end_pos": 698, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O95352", "url": "https://www.uniprot.org/uniprot/O95352" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "O95352", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95352" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser698" } ], "glycation": [], "keywords": [], "publication": [ { "title": "Glucose-induced autophagy of peroxisomes in Pichia pastoris requires a unique E1-like protein.", "journal": "Mol. Biol. Cell", "date": "1999", "authors": "Yuan W, Stromhaug PE, Dunn WA Jr", "evidence": [ { "database": "UniProtKB", "id": "O95352", "url": "https://www.uniprot.org/uniprot/O95352" } ], "reference": [ { "type": "PubMed", "id": "10233149", "url": "https://glygen.org/publication/PubMed/10233149" } ] }, { "title": "Two new proteases in the MHC class I processing pathway.", "journal": "Nature immunology", "date": "2000", "authors": "Stoltze L, Schirle M, Schwarz G, Schroter C, Thompson MW, Hersh LB, Kalbacher H, Stevanovic S, Rammensee HG, Schild H", "evidence": [ { "database": "Reactome", "id": "R-HSA-983168", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983168" } ], "reference": [ { "type": "PubMed", "id": "11062501", "url": "https://glygen.org/publication/PubMed/11062501" } ] }, { "title": "The human homolog of Saccharomyces cerevisiae Apg7p is a Protein-activating enzyme for multiple substrates including human Apg12p, GATE-16, GABARAP, and MAP-LC3.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Tanida I, Tanida-Miyake E, Ueno T, Kominami E", "evidence": [ { "database": "UniProtKB", "id": "O95352", "url": "https://www.uniprot.org/uniprot/O95352" }, { "database": "Reactome", "id": "R-HSA-1632852", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1632852" } ], "reference": [ { "type": "PubMed", "id": "11096062", "url": "https://glygen.org/publication/PubMed/11096062" } ] }, { "title": "26S proteasomes and immunoproteasomes produce mainly N-extended versions of an antigenic peptide.", "journal": "The EMBO journal", "date": "2001", "authors": "Cascio P, Hilton C, Kisselev AF, Rock KL, Goldberg AL", "evidence": [ { "database": "Reactome", "id": "R-HSA-983168", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983168" } ], "reference": [ { "type": "PubMed", "id": "11350924", "url": "https://glygen.org/publication/PubMed/11350924" } ] }, { "title": "Human Apg3p/Aut1p homologue is an authentic E2 enzyme for multiple substrates, GATE-16, GABARAP, and MAP-LC3, and facilitates the conjugation of hApg12p to hApg5p.", "journal": "J. Biol. Chem.", "date": "2002", "authors": "Tanida I, Tanida-Miyake E, Komatsu M, Ueno T, Kominami E", "evidence": [ { "database": "UniProtKB", "id": "O95352", "url": "https://www.uniprot.org/uniprot/O95352" }, { "database": "Reactome", "id": "R-HSA-1632852", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1632852" } ], "reference": [ { "type": "PubMed", "id": "11825910", "url": "https://glygen.org/publication/PubMed/11825910" } ] }, { "title": "Murine Apg12p has a substrate preference for murine Apg7p over three Apg8p homologs.", "journal": "Biochem. Biophys. Res. Commun.", "date": "2002", "authors": "Tanida I, Tanida-Miyake E, Nishitani T, Komatsu M, Yamazaki H, Ueno T, Kominami E", "evidence": [ { "database": "UniProtKB", "id": "O95352", "url": "https://www.uniprot.org/uniprot/O95352" } ], "reference": [ { "type": "PubMed", "id": "11890701", "url": "https://glygen.org/publication/PubMed/11890701" } ] }, { "title": "U-box proteins as a new family of ubiquitin ligases.", "journal": "Biochemical and biophysical research communications", "date": "2003", "authors": "Hatakeyama S, Nakayama KI", "evidence": [ { "database": "Reactome", "id": "R-HSA-983168", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983168" } ], "reference": [ { "type": "PubMed", "id": "12646216", "url": "https://glygen.org/publication/PubMed/12646216" } ] }, { "title": "Proteasome and peptidase function in MHC-class-I-mediated antigen presentation.", "journal": "Current opinion in immunology", "date": "2004", "authors": "Kloetzel PM, Ossendorp F", "evidence": [ { "database": "Reactome", "id": "R-HSA-983168", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983168" } ], "reference": [ { "type": "PubMed", "id": "14734113", "url": "https://glygen.org/publication/PubMed/14734113" } ] }, { "title": "HsAtg4B/HsApg4B/autophagin-1 cleaves the carboxyl termini of three human Atg8 homologues and delipidates microtubule-associated protein light chain 3- and GABAA receptor-associated protein-phospholipid conjugates.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Tanida I, Sou YS, Ezaki J, Minematsu-Ikeguchi N, Ueno T, Kominami E", "evidence": [ { "database": "Reactome", "id": "R-HSA-1632852", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1632852" } ], "reference": [ { "type": "PubMed", "id": "15187094", "url": "https://glygen.org/publication/PubMed/15187094" } ] }, { "title": "Generation of major histocompatibility complex class I antigens: functional interplay between proteasomes and TPPII.", "journal": "Nature immunology", "date": "2004", "authors": "Kloetzel PM", "evidence": [ { "database": "Reactome", "id": "R-HSA-983168", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983168" } ], "reference": [ { "type": "PubMed", "id": "15224091", "url": "https://glygen.org/publication/PubMed/15224091" } ] }, { "title": "Post-proteasomal antigen processing for major histocompatibility complex class I presentation.", "journal": "Nature immunology", "date": "2004", "authors": "Rock KL, York IA, Goldberg AL", "evidence": [ { "database": "Reactome", "id": "R-HSA-983168", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983168" } ], "reference": [ { "type": "PubMed", "id": "15224092", "url": "https://glygen.org/publication/PubMed/15224092" } ] }, { "title": "The proteasome and MHC class I antigen processing.", "journal": "Biochimica et biophysica acta", "date": "2004", "authors": "Kloetzel PM", "evidence": [ { "database": "Reactome", "id": "R-HSA-983168", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983168" } ], "reference": [ { "type": "PubMed", "id": "15571818", "url": "https://glygen.org/publication/PubMed/15571818" } ] }, { "title": "Oncogenic AKAP9-BRAF fusion is a novel mechanism of MAPK pathway activation in thyroid cancer.", "journal": "The Journal of clinical investigation", "date": "2005", "authors": "Ciampi R, Knauf JA, Kerler R, Gandhi M, Zhu Z, Nikiforova MN, Rabes HM, Fagin JA, Nikiforov YE", "evidence": [ { "database": "Reactome", "id": "R-HSA-6802952", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6802952" } ], "reference": [ { "type": "PubMed", "id": "15630448", "url": "https://glygen.org/publication/PubMed/15630448" } ] }, { "title": "Phosphatidylserine in addition to phosphatidylethanolamine is an in vitro target of the mammalian Atg8 modifiers, LC3, GABARAP, and GATE-16.", "journal": "The Journal of biological chemistry", "date": "2006", "authors": "Sou YS, Tanida I, Komatsu M, Ueno T, Kominami E", "evidence": [ { "database": "UniProtKB", "id": "O95352", "url": "https://www.uniprot.org/uniprot/O95352" } ], "reference": [ { "type": "PubMed", "id": "16303767", "url": "https://glygen.org/publication/PubMed/16303767" } ] }, { "title": "Pleiotropic effects of ATP.Mg2+ binding in the catalytic cycle of ubiquitin-activating enzyme.", "journal": "The Journal of biological chemistry", "date": "2006", "authors": "Tokgoz Z, Bohnsack RN, Haas AL", "evidence": [ { "database": "Reactome", "id": "R-HSA-983168", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983168" } ], "reference": [ { "type": "PubMed", "id": "16595681", "url": "https://glygen.org/publication/PubMed/16595681" } ] }, { "title": "Tripeptidyl peptidase II is the major peptidase needed to trim long antigenic precursors, but is not required for most MHC class I antigen presentation.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2006", "authors": "York IA, Bhutani N, Zendzian S, Goldberg AL, Rock KL", "evidence": [ { "database": "Reactome", "id": "R-HSA-983168", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983168" } ], "reference": [ { "type": "PubMed", "id": "16849449", "url": "https://glygen.org/publication/PubMed/16849449" } ] }, { "title": "A novel family of membrane-bound E3 ubiquitin ligases.", "journal": "Journal of biochemistry", "date": "2006", "authors": "Ohmura-Hoshino M, Goto E, Matsuki Y, Aoki M, Mito M, Uematsu M, Hotta H, Ishido S", "evidence": [ { "database": "Reactome", "id": "R-HSA-983168", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983168" } ], "reference": [ { "type": "PubMed", "id": "16954532", "url": "https://glygen.org/publication/PubMed/16954532" } ] }, { "title": "Stimulation of ATG12-ATG5 conjugation by ribonucleic acid.", "journal": "Autophagy", "date": "2007", "authors": "Shao Y, Gao Z, Feldman T, Jiang X", "evidence": [ { "database": "Reactome", "id": "R-HSA-1632852", "url": 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"https://www.reactome.org/PathwayBrowser/#R-HSA-1632852" } ], "reference": [ { "type": "PubMed", "id": "18321988", "url": "https://glygen.org/publication/PubMed/18321988" } ] }, { "title": "AMPK phosphorylation of raptor mediates a metabolic checkpoint.", "journal": "Molecular cell", "date": "2008", "authors": "Gwinn DM, Shackelford DB, Egan DF, Mihaylova MM, Mery A, Vasquez DS, Turk BE, Shaw RJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-1632852", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1632852" } ], "reference": [ { "type": "PubMed", "id": "18439900", "url": "https://glygen.org/publication/PubMed/18439900" } ] }, { "title": "Structural insights into E1-catalyzed ubiquitin activation and transfer to conjugating enzymes.", "journal": "Cell", "date": "2008", "authors": "Lee I, Schindelin H", "evidence": [ { "database": "Reactome", "id": "R-HSA-983168", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983168" } ], "reference": [ { "type": "PubMed", "id": 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"https://www.reactome.org/PathwayBrowser/#R-HSA-1632852" } ], "reference": [ { "type": "PubMed", "id": "19211835", "url": "https://glygen.org/publication/PubMed/19211835" } ] }, { "title": "The structure of Atg4B-LC3 complex reveals the mechanism of LC3 processing and delipidation during autophagy.", "journal": "The EMBO journal", "date": "2009", "authors": "Satoo K, Noda NN, Kumeta H, Fujioka Y, Mizushima N, Ohsumi Y, Inagaki F", "evidence": [ { "database": "Reactome", "id": "R-HSA-1632852", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1632852" } ], "reference": [ { "type": "PubMed", "id": "19322194", "url": "https://glygen.org/publication/PubMed/19322194" } ] }, { "title": "Ubiquitin-like protein activation by E1 enzymes: the apex for downstream signalling pathways.", "journal": "Nature reviews. 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