{ "uniprot_canonical_ac": "O60936-2", "uniprot_ac": "O60936", "uniprot_id": "NOL3_HUMAN", "mass": { "chemical_mass": 22629.0, "monoisotopic_mass": 22629.0 }, "refseq": { "ac": "NP_001171986", "name": "nucleolar protein 3 isoform Nop30", "summary": "This gene encodes an anti-apoptotic protein that has been shown to down-regulate the enzyme activities of caspase 2, caspase 8 and tumor protein p53. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171986" }, "gene_names": [ { "name": "NOL3", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O60936", "id": "O60936" }, { "name": "ARC; FCM; MYOCL1; MYP; NOP; NOP30", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171986", "id": "NP_001171986" }, { "name": "ARC", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O60936", "id": "O60936" }, { "name": "NOL3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171986", "id": "NP_001171986" }, { "name": "NOP", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O60936", "id": "O60936" } ], "protein_names": [ { "name": "Nucleolar protein 3", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O60936" }, { "name": "Apoptosis repressor with CARD", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60936" }, { "name": "Muscle-enriched cytoplasmic protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60936" }, { "name": "Myp", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60936" }, { "name": "Nop30", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60936" }, { "name": "Nucleolar protein of 30 kDa", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60936" }, { "name": "nucleolar protein 3 isoform Nop30", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171986", "id": "NP_001171986" }, { "name": "nucleolar protein of 30 kDa; muscle-enriched cytoplasmic protein; nucleolar protein 3 (apoptosis repressor with CARD domain)", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171986", "id": "NP_001171986" } ], "function": [ { "annotation": "ARC Is a Critical Protector against Inflammatory Bowel Disease (IBD) and IBD-Associated Colorectal Tumorigenesis.", "evidence": [ { "database": "RefSeq", "id": "NP_001171986", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171986" }, { "database": "PubMed", "id": "32816906", "url": "https://glygen.org/publication/PubMed/32816906" } ] }, { "annotation": "ARC is recruited to the Fas DISC. By interacting with Fas and FADD through CARD-DD and CARD-DED interactions, ARC prevents DISC assembly and procaspase-8 activation. GeneRIF: The CARD of ARC binds the Bax C-terminus, preventing Bax activation and activation of the intrinsic mitochondrial pathway GeneRIF: ARC holds multiple death pathways in check by non-homotypic death-fold interactions. Loss of ARC disinhibits these, leading to accelerated DISC assembly and Bax activation and may be an apoptotic trigger in heart failure and ischemia-reperfusion.", "evidence": [ { "database": "RefSeq", "id": "NP_001171986", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171986" }, { "database": "PubMed", "id": "15383280", "url": "https://glygen.org/publication/PubMed/15383280" } ] }, { "annotation": "Apoptosis repressor with caspase recruitment domain promotes cell proliferation and phenotypic modulation through 14-3-3epsilon/YAP signaling in vascular smooth muscle cells.", "evidence": [ { "database": "RefSeq", "id": "NP_001171986", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171986" }, { "database": "PubMed", "id": "32771410", "url": "https://glygen.org/publication/PubMed/32771410" } ] }, { "annotation": "Expression of apoptosis repressor with caspase recruitment domain (ARC) in familial adenomatous polyposis (FAP) adenomas and its correlation with DNA mismatch repair proteins, p53, Bcl-2, COX-2 and beta-catenin. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001171986", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171986" }, { "database": "PubMed", "id": "33579312", "url": "https://glygen.org/publication/PubMed/33579312" } ] }, { "annotation": "Functions as an apoptosis repressor that blocks multiple modes of cell death. Inhibits extrinsic apoptotic pathways through two different ways. Firstly by interacting with FAS and FADD upon FAS activation blocking death-inducing signaling complex (DISC) assembly (By similarity). Secondly by interacting with CASP8 in a mitochondria localization- and phosphorylation-dependent manner, limiting the amount of soluble CASP8 available for DISC-mediated activation (By similarity). Inhibits intrinsic apoptotic pathway in response to a wide range of stresses, through its interaction with BAX resulting in BAX inactivation, preventing mitochondrial dysfunction and release of pro-apoptotic factors (PubMed:15004034). Inhibits calcium-mediated cell death by functioning as a cytosolic calcium buffer, dissociating its interaction with CASP8 and maintaining calcium homeostasis (PubMed:15509781). Negatively regulates oxidative stress-induced apoptosis by phosphorylation-dependent suppression of the mitochondria-mediated intrinsic pathway, by blocking CASP2 activation and BAX translocation (By similarity). Negatively regulates hypoxia-induced apoptosis in part by inhibiting the release of cytochrome c from mitochondria in a caspase-independent manner (By similarity). Also inhibits TNF-induced necrosis by preventing TNF-signaling pathway through TNFRSF1A interaction abrogating the recruitment of RIPK1 to complex I (By similarity). Finally through its role as apoptosis repressor, promotes vascular remodeling through inhibition of apoptosis and stimulation of proliferation, in response to hypoxia (By similarity). Inhibits too myoblast differentiation through caspase inhibition (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "O60936", "url": "https://www.uniprot.org/uniprot/O60936#function" }, { "database": "UniProtKB", "id": "Q62881", "url": "https://www.uniprot.org/uniprot/Q62881#function" }, { "database": "UniProtKB", "id": "Q9D1X0", "url": "https://www.uniprot.org/uniprot/Q9D1X0#function" }, { "database": "PubMed", "id": "15509781", "url": "https://glygen.org/publication/PubMed/15509781" }, { "database": "PubMed", "id": "15004034", "url": "https://glygen.org/publication/PubMed/15004034" } ] }, { "annotation": "May be involved in RNA splicing.", "evidence": [ { "database": "UniProtKB", "id": "O60936", "url": "https://www.uniprot.org/uniprot/O60936#function" }, { "database": "PubMed", "id": "10196175", "url": "https://glygen.org/publication/PubMed/10196175" } ] }, { "annotation": "These results suggest that the antiapoptotic effect of apoptotic repressor with caspase recruitment domain is, in part, due to inhibition of voltage-gated potassium channels in cardiomyocytes.", "evidence": [ { "database": "RefSeq", "id": "NP_001171986", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171986" }, { "database": "PubMed", "id": "12734105", "url": "https://glygen.org/publication/PubMed/12734105" } ] }, { "annotation": "This gene encodes an anti-apoptotic protein that has been shown to down-regulate the enzyme activities of caspase 2, caspase 8 and tumor protein p53. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010].", "evidence": [ { "database": "RefSeq", "id": "NP_001171986", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171986" } ] } ], "disease": [ { "disease_id": "MONDO:0100093", "recommended_name": { "id": "MONDO:0100093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100093", "name": "myoclonus, familial, 1", "description": "Familial cortical myoclonus caused by heterozygous mutation in the NOL3 gene on chromosome 16q22." }, "synonyms": [ { "id": "MONDO:0100093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100093", "name": "myoclonus, familial cortical", "description": "" }, { "id": "MONDO:0100093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100093", "name": "FCM", "description": "" }, { "id": "MONDO:0100093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100093", "name": "MYOCL1", "description": "" }, { "id": "MIM:614937", "resource": "MIM", "url": "https://www.omim.org/entry/614937", "name": "Myoclonus, familial, 1", "description": "Myoclonus, familial, 1" } ], "evidence": [ { "id": "614937", "database": "MIM", "url": "https://www.omim.org/entry/614937" } ] } ], "snv": [], "mutagenesis": [ { "start_pos": 163, "end_pos": 163, "sequence_org": "K", "sequence_mut": "R", "comment": "Abolished ubiquitination in response to an apoptotic stimulus; when associated with R-17 and R-68.", "evidence": [ { "database": "UniProtKB", "id": "O60936", "url": "https://www.uniprot.org/uniprot/O60936" }, { "database": "PubMed", "id": "17142452", "url": "https://glygen.org/publication/PubMed/17142452" } ] }, { "start_pos": 17, "end_pos": 17, "sequence_org": "K", "sequence_mut": "R", "comment": "Abolished ubiquitination in response to an apoptotic stimulus; when associated with R-68 and R-163.", "evidence": [ { "database": "UniProtKB", "id": "O60936", "url": "https://www.uniprot.org/uniprot/O60936" }, { "database": "PubMed", "id": "17142452", "url": "https://glygen.org/publication/PubMed/17142452" } ] }, { "start_pos": 31, "end_pos": 31, "sequence_org": "L", "sequence_mut": "F", "comment": "Did not reduce creatine kinase release or infarct size after myocardial ischemia/reperfusion. Causes loss of mitochondrial membrane potential and nuclear condensation. Failes to prevent the increase in Bax. Interacts with BAX.", "evidence": [ { "database": "UniProtKB", "id": "O60936", "url": "https://www.uniprot.org/uniprot/O60936" }, { "database": "PubMed", "id": "15004034", "url": "https://glygen.org/publication/PubMed/15004034" } ] }, { "start_pos": 68, "end_pos": 68, "sequence_org": "K", "sequence_mut": "R", "comment": "Abolished ubiquitination in response to an apoptotic stimulus; when associated with R-17 and R-163.", "evidence": [ { "database": "UniProtKB", "id": "O60936", "url": "https://www.uniprot.org/uniprot/O60936" }, { "database": "PubMed", "id": "17142452", "url": "https://glygen.org/publication/PubMed/17142452" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "81.28", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000140939", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000140939" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "75.64", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000140939", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000140939" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "70.46", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000140939", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000140939" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "69.07", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000140939", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000140939" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "95.53", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000140939", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000140939" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "91.46", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000140939", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000140939" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "61.4", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000140939", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000140939" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "84.61", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000140939", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000140939" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "92.25", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000140939", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000140939" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "61.75", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000140939", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000140939" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "82.93", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000140939", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000140939" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "97.32", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000140939", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000140939" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "92.77", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000140939", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000140939" } ] } ], "expression_disease": [ { "significant": "No", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O60936", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60936" } ], "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", 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"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, 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"https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O60936", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60936" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor 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"https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", 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"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 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60936" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "O60936", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60936" } ], "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": "O60936", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60936" } ], "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": "O60936", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60936" } ], "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": "O60936", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60936" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "O60936", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60936" } ], "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": "O60936", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60936" } ], "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": 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67174170, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000568146.1", "url": "https://www.ensembl.org/id/ENST00000568146.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000454598.1", "url": "https://www.ensembl.org/id/ENSP00000454598.1" } ] } }, { "isoform_ac": "O60936-2", "url": "", "sequence": { "sequence": "MGNAQERPSETIDRERKRLVETLQADSGLLLDALLARGVLTGPEYEALDALPDAERRVRRLLLLVQGKGEAACQELLRCAQRTAGAPDPAWDWQHVGPGYRDRSYDPPCPGHWTPEAPGSGTTCPGLPRASDPDEAGGPEGSEAVQSGTPEEPEPELEAEASKEAEPEPEPEPELEPEAEAEPEPELEPEPDPEPEPDFEERDESEDS", "length": 208, "header": "sp|O60936-2|NOL3_HUMAN Isoform 2 of Nucleolar protein 3 OS=Homo sapiens OX=9606 GN=NOL3 PE=1 SV=2 CANONICAL=O60936-2" }, "locus": { "chromosome": "16", "start_pos": 67175051, "end_pos": 67174170, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000564992.2", "url": "https://www.ensembl.org/id/ENST00000564992.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000457720.2", "url": "https://www.ensembl.org/id/ENSP00000457720.2" } ] } }, { "isoform_ac": "O60936-3", "url": "", "sequence": { "sequence": "MPVLGKAGEERRATADAWGQKEEPEEETGQSVWRGRRTPSSPCWPPGPVLAEPSGGWDRAPTMGNAQERPSETIDRERKRLVETLQADSGLLLDALLARGVLTGPEYEALDALPDAERRVRRLLLLVQGKGEAACQELLRCAQRTAGAPDPAWDWQHVGPGYRDRSYDPPCPGHWTPEAPGSGTTCPGLPRASDPDEAGGPEGSEAVQSGTPEEPEPELEAEASKEAEPEPEPEPELEPEAEAEPEPELEPEPDPEPEPDFEERDESEDS", "length": 270, "header": "sp|O60936-3|NOL3_HUMAN Isoform 3 of Nucleolar protein 3 OS=Homo sapiens OX=9606 GN=NOL3 PE=1 SV=2 CANONICAL=O60936-2" }, "locus": {} } ], "glycosylation": [], "phosphorylation": [ { "start_pos": 104, "end_pos": 104, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O60936", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60936" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser104" }, { "start_pos": 105, "end_pos": 105, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O60936", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60936" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Tyr105" }, { "start_pos": 114, "end_pos": 114, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O60936", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60936" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr114" }, { "start_pos": 120, "end_pos": 120, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O60936", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60936" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser120" }, { "start_pos": 122, "end_pos": 122, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O60936", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60936" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr122" }, { "start_pos": 123, "end_pos": 123, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O60936", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60936" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr123" }, { "start_pos": 149, "end_pos": 149, "kinase_uniprot_canonical_ac": "P19784-1", "kinase_gene_name": "CSNK2A2", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O60936", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60936" }, { "database": "PubMed", "id": "12191471", "url": "https://glygen.org/publication/PubMed/12191471" } ], "site_lbl": "Thr149" }, { "start_pos": 149, "end_pos": 149, "kinase_uniprot_canonical_ac": "P68400-1", "kinase_gene_name": "CSNK2A1", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O60936", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60936" }, { "database": "PubMed", "id": "12191471", "url": "https://glygen.org/publication/PubMed/12191471" } ], "site_lbl": "Thr149" }, { "start_pos": 149, "end_pos": 149, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine; by CK2", "evidence": [ { "database": "UniProtKB", "id": "O60936", "url": "https://www.uniprot.org/uniprot/O60936" } ], "site_lbl": "Thr149" } ], "glycation": [], "keywords": [], "publication": [ { "title": "Alternative splicing determines the intracellular localization of the novel nuclear protein Nop30 and its interaction with the splicing factor SRp30c.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Stoss O, Schwaiger FW, Cooper TA, Stamm S", "evidence": [ { "database": "UniProtKB", "id": "O60936", "url": "https://www.uniprot.org/uniprot/O60936" } ], "reference": [ { "type": "PubMed", "id": "10196175", "url": "https://glygen.org/publication/PubMed/10196175" } ] }, { "title": "Phosphorylation by protein kinase CK2: a signaling switch for the caspase-inhibiting protein ARC.", "journal": "Molecular cell", "date": "2002", "authors": "Li PF, Li J, Muller EC, Otto A, Dietz R, von Harsdorf R", "evidence": [ { "database": "iPTMnet", "id": "O60936-2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60936-2" } ], "reference": [ { "type": "PubMed", "id": "12191471", "url": "https://glygen.org/publication/PubMed/12191471" } ] }, { "title": "Apoptosis repressor with caspase domain inhibits cardiomyocyte apoptosis by reducing K+ currents.", "journal": "American journal of physiology. Cell physiology", "date": "2003", "authors": "Ekhterae D, Platoshyn O, Zhang S, Remillard CV, Yuan JX", "evidence": [ { "database": "RefSeq", "id": "NP_001171986", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171986" } ], "reference": [ { "type": "PubMed", "id": "12734105", "url": "https://glygen.org/publication/PubMed/12734105" } ] }, { "title": "Apoptosis repressor with caspase recruitment domain protects against cell death by interfering with Bax activation.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Gustafsson AB, Tsai JG, Logue SE, Crow MT, Gottlieb RA", "evidence": [ { "database": "UniProtKB", "id": "O60936", "url": "https://www.uniprot.org/uniprot/O60936" } ], "reference": [ { "type": "PubMed", "id": "15004034", "url": "https://glygen.org/publication/PubMed/15004034" } ] }, { "title": "Inhibition of both the extrinsic and intrinsic death pathways through nonhomotypic death-fold interactions.", "journal": "Molecular cell", "date": "2004", "authors": "Nam YJ, Mani K, Ashton AW, Peng CF, Krishnamurthy B, Hayakawa Y, Lee P, Korsmeyer SJ, Kitsis RN", "evidence": [ { "database": "RefSeq", "id": "NP_001171986", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171986" } ], "reference": [ { "type": "PubMed", "id": "15383280", "url": "https://glygen.org/publication/PubMed/15383280" } ] }, { "title": "Calcium binding of ARC mediates regulation of caspase 8 and cell death.", "journal": "Molecular and cellular biology", "date": "2004-11", "authors": "Jo Dong-Gyu, Jun Joon-Il, Chang Jae-Woong, Hong Yeon-Mi, Song Sungmin, Cho Dong-Hyung, Shim Sang Mi, Lee Ho-June, Cho Chunghee, Kim Do Han, Jung Yong-Keun", "evidence": [ { "database": "UniProtKB", "id": "O60936", "url": "https://www.uniprot.org/uniprot/O60936" } ], "reference": [ { "type": "PubMed", "id": "15509781", "url": "https://glygen.org/publication/PubMed/15509781" } ] }, { "title": "Apoptosis repressor with caspase recruitment domain is required for cardioprotection in response to biomechanical and ischemic stress.", "journal": "Circulation", "date": "2006", "authors": "Donath Stefan, Li Peifeng, Willenbockel Christian, Al-Saadi Nidal, Gross Volkmar, Willnow Thomas, Bader Michael, Martin Ulrich, Bauersachs Johann, Wollert Kai C, Dietz Rainer, von Harsdorf R\u00fcdiger,", "evidence": [ { "database": "UniProtKB", "id": "O60936", "url": "https://www.uniprot.org/uniprot/O60936" } ], "reference": [ { "type": "PubMed", "id": "16505176", "url": "https://glygen.org/publication/PubMed/16505176" } ] }, { "title": "The apoptosis inhibitor ARC undergoes ubiquitin-proteasomal-mediated degradation in response to death stimuli: identification of a degradation-resistant mutant.", "journal": "The Journal of biological chemistry", "date": "2007", "authors": "Nam YJ, Mani K, Wu L, Peng CF, Calvert JW, Foo RS, Krishnamurthy B, Miao W, Ashton AW, Lefer DJ, Kitsis RN", "evidence": [ { "database": "UniProtKB", "id": "O60936", "url": "https://www.uniprot.org/uniprot/O60936" } ], "reference": [ { "type": "PubMed", "id": "17142452", "url": "https://glygen.org/publication/PubMed/17142452" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "iPTMnet", "id": "O60936-2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60936-2" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "Familial cortical myoclonus with a mutation in NOL3.", "journal": "Annals of neurology", "date": "2012", "authors": "Russell JF, Steckley JL, Coppola G, Hahn AF, Howard MA, Kornberg Z, Huang A, Mirsattari SM, Merriman B, Klein E, Choi M, Lee HY, Kirk A, Nelson-Williams C, Gibson G, Baraban SC, Lifton RP, Geschwind DH, Fu YH, Ptacek LJ", "evidence": [ { "database": "UniProtKB", "id": "O60936", "url": "https://www.uniprot.org/uniprot/O60936" } ], "reference": [ { "type": "PubMed", "id": "22926851", "url": "https://glygen.org/publication/PubMed/22926851" } ] }, { "title": "Screening of mutations in NOL3 in a myoclonic syndromes series.", "journal": "Journal of neurology", "date": "2014", "authors": "Macerollo A, Mencacci NE, Erro R, Cordivari C, Edwards MJ, Wood NW, Bhatia KP", "evidence": [ { "database": "UniProtKB", "id": "O60936", "url": "https://www.uniprot.org/uniprot/O60936" } ], "reference": [ { "type": "PubMed", "id": "25138476", "url": "https://glygen.org/publication/PubMed/25138476" } ] }, { "title": "Global profiling of co- and post-translationally N-myristoylated proteomes in human cells.", "journal": "Nat. Commun.", "date": "2014", "authors": "Thinon E, Serwa RA, Broncel M, Brannigan JA, Brassat U, Wright MH, Heal WP, Wilkinson AJ, Mann DJ, Tate EW", "evidence": [ { "database": "UniProtKB", "id": "O60936", "url": "https://www.uniprot.org/uniprot/O60936" } ], "reference": [ { "type": "PubMed", "id": "25255805", "url": "https://glygen.org/publication/PubMed/25255805" } ] }, { "title": "Apoptosis repressor with caspase recruitment domain promotes cell proliferation and phenotypic modulation through 14-3-3epsilon/YAP signaling in vascular smooth muscle cells.", "journal": "Journal of molecular and cellular cardiology", "date": "2020", "authors": "Liu M, Yu T, Li M, Fang X, Hou B, Liu G, Wang J", "evidence": [ { "database": "RefSeq", "id": "NP_001171986", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171986" } ], "reference": [ { "type": "PubMed", "id": "32771410", "url": "https://glygen.org/publication/PubMed/32771410" } ] }, { "title": "ARC Is a Critical Protector against Inflammatory Bowel Disease (IBD) and IBD-Associated Colorectal Tumorigenesis.", "journal": "Cancer research", "date": "2020", "authors": "Wang Q, Zhang T, Chang X, Lim DY, Wang K, Bai R, Wang T, Ryu J, Chen H, Yao K, Ma WY, Boardman LA, Bode AM, Dong Z", "evidence": [ { "database": "RefSeq", "id": "NP_001171986", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171986" } ], "reference": [ { "type": "PubMed", "id": "32816906", "url": "https://glygen.org/publication/PubMed/32816906" } ] }, { "title": "Expression of apoptosis repressor with caspase recruitment domain (ARC) in familial adenomatous polyposis (FAP) adenomas and its correlation with DNA mismatch repair proteins, p53, Bcl-2, COX-2 and beta-catenin.", "journal": "Cell communication and signaling : CCS", "date": "2021", "authors": "Roser C, Toth C, Renner M, Herpel E, Schirmacher P", "evidence": [ { "database": "RefSeq", "id": "NP_001171986", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171986" } ], "reference": [ { "type": "PubMed", "id": "33579312", "url": "https://glygen.org/publication/PubMed/33579312" } ] }, { "title": "ARC, an inhibitor of apoptosis expressed in skeletal muscle and heart that interacts selectively with caspases.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "1998", "authors": "Koseki T, Inohara N, Chen S, Nunez G", "evidence": [ { "database": "UniProtKB", "id": "O60936", "url": "https://www.uniprot.org/uniprot/O60936" } ], "reference": [ { "type": "PubMed", "id": "9560245", "url": "https://glygen.org/publication/PubMed/9560245" } ] } ], "pathway": [ { "id": "hsa:8996", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:8996", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "Q62881-1", "protein_name": "Nucleolar protein 3", "gene_name": "Nol3", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MGNMQERPSETIDRERKRLVETLQADSGLLLDALVARGVLTGPEYEALDALPDAERRVRRLLLLVQSKGEAACQELLRCAQQTVSMPDPAWDWQHVGPGYRDRSYDPPCPGHWTPEAPSSGTTCPGLPRASEEEEIGGPEDSEAVQPRTPEEPELEAEATKGDEPDLEQEMEPEPEPEVEPEPEPEPEPEPEPEPEPEPEPEPEREPDFQEGDESEGCENT", "length": 221 }, "evidence": [ { "id": "45935101", "url": "http://www.informatics.jax.org/homology/45935101", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q9D1X0-1", "protein_name": "Nucleolar protein 3", "gene_name": "Nol3", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MGNVQERPSETIDRERKRLVETLQADSGLLLDALVARGVLTGPEYEALDALPDAERRVRRLLLLVQSKGEAACQELLRCAQQTVRMPDPAWDWQHVGPGYRNRSYDPSCPGHWTPEAPSSGTTCPELPRASEQEEVGGPEGSEALQPRTPEEPELEAEATEGDEPDLEQEMNPEQEPEPEPEPEPEPEPEPEPEPEPEPEPEPEPEPEPDFQEEDESEDS", "length": 220 }, "evidence": [ { "id": "45935101", "url": "http://www.informatics.jax.org/homology/45935101", "database": "MGI" }, { "id": "O60936", "url": "https://omabrowser.org/oma/group/O60936/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 7, "go_terms": [ { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "O60936", "url": "https://www.uniprot.org/uniprot/O60936" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "O60936", "url": "https://www.uniprot.org/uniprot/O60936" } ], "pmid": "" }, { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "O60936", "url": "https://www.uniprot.org/uniprot/O60936" } ], "pmid": "" }, { "name": "cysteine-type endopeptidase inhibitor activity involved in apoptotic process", "id": "GO:0043027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043027", "evidence": [ { "database": "UniProtKB", "id": "O60936", "url": "https://www.uniprot.org/uniprot/O60936" } ], "pmid": "" }, { "name": "death effector domain binding", "id": "GO:0035877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035877", "evidence": [ { "database": "UniProtKB", "id": "O60936", "url": "https://www.uniprot.org/uniprot/O60936" } ], "pmid": "" }, { "name": "caspase binding", "id": "GO:0089720", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0089720", "evidence": [ { "database": "UniProtKB", "id": "O60936", "url": "https://www.uniprot.org/uniprot/O60936" } ], "pmid": "" }, { "name": "death receptor binding", "id": "GO:0005123", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005123", "evidence": [ { "database": "UniProtKB", "id": "O60936", "url": "https://www.uniprot.org/uniprot/O60936" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 6, "go_terms": [ { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "O60936", "url": "https://www.uniprot.org/uniprot/O60936" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "O60936", "url": "https://www.uniprot.org/uniprot/O60936" } ], "pmid": "" }, { "name": "mitochondrion", 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"id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "O60936", "url": "https://www.uniprot.org/uniprot/O60936" } ], "pmid": "" }, { "name": "protein complex oligomerization", "id": "GO:0051259", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051259", "evidence": [ { "database": "UniProtKB", "id": "O60936", "url": "https://www.uniprot.org/uniprot/O60936" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "O60936", "url": "https://www.uniprot.org/uniprot/O60936" } ], "pmid": "" }, { "name": "RNA splicing", "id": "GO:0008380", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008380", "evidence": [ { "database": "UniProtKB", "id": "O60936", "url": "https://www.uniprot.org/uniprot/O60936" } ], "pmid": "" }, { "name": "negative regulation of extrinsic apoptotic signaling pathway", "id": "GO:2001237", 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