{ "uniprot_canonical_ac": "A8MQ27-1", "uniprot_ac": "A8MQ27", "uniprot_id": "NEU1B_HUMAN", "mass": { "chemical_mass": 59270.0, "monoisotopic_mass": 59270.0 }, "refseq": { "ac": "NP_001136123", "name": "E3 ubiquitin-protein ligase NEURL1B isoform hNEUR2", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136123" }, "gene_names": [ { "name": "NEURL1B", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/A8MQ27", "id": "A8MQ27" }, { "name": "NEURL1B", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136123", "id": "NP_001136123" }, { "name": "NEURL3", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A8MQ27", "id": "A8MQ27" }, { "name": "hNeur2; neur2; NEURL3; RNF67B", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136123", "id": "NP_001136123" } ], "protein_names": [ { "name": "E3 ubiquitin-protein ligase NEURL1B", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "A8MQ27" }, { "name": "2.3.2.27", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "A8MQ27" }, { "name": "E3 ubiquitin-protein ligase NEURL1B isoform hNEUR2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136123", "id": "NP_001136123" }, { "name": "E3 ubiquitin-protein ligase NEURL1B; neuralized-2; neuralized-like protein 3; E3 ubiquitin-protein ligase NEURL3; neuralized 2 alternative protein; neuralized-like protein 1B; neuralized homolog 1B; RING-type E3 ubiquitin transferase NEURL1B", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136123", "id": "NP_001136123" }, { "name": "NEUR2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "A8MQ27" }, { "name": "Neuralized-2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "A8MQ27" }, { "name": "Neuralized-like protein 1B", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "A8MQ27" }, { "name": "Neuralized-like protein 3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "A8MQ27" }, { "name": "RING-type E3 ubiquitin transferase NEURL1B", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "A8MQ27" } ], "function": [ { "annotation": "E3 ubiquitin-protein ligase involved in regulation of the Notch pathway through influencing the stability and activity of several Notch ligands.", "evidence": [ { "database": "UniProtKB", "id": "A8MQ27", "url": "https://www.uniprot.org/uniprot/A8MQ27#function" }, { "database": "PubMed", "id": "19723503", "url": "https://glygen.org/publication/PubMed/19723503" } ] }, { "annotation": "Neur2, in contrast to Neur1, is highly expressed during embryonic development of the brain and several non-neural tissues and its mRNA levels subside postnatally.", "evidence": [ { "database": "RefSeq", "id": "NP_001136123", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136123" }, { "database": "PubMed", "id": "19723503", "url": "https://glygen.org/publication/PubMed/19723503" } ] } ], "disease": [], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "81.68", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000214357", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000214357" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "83.48", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000214357", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000214357" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "73.58", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000214357", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000214357" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "87.18", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000214357", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000214357" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "85.78", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000214357", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000214357" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "90.66", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000214357", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000214357" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "82.41", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000214357", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000214357" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "75.55", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000214357", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000214357" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "85.34", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000214357", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000214357" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "85.19", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000214357", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000214357" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "A8MQ27", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A8MQ27" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "No", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "A8MQ27", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A8MQ27" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "A8MQ27", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A8MQ27" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "A8MQ27", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A8MQ27" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "A8MQ27", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A8MQ27" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "A8MQ27", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A8MQ27" } ], "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": "A8MQ27", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A8MQ27" } ], "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": "A8MQ27", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A8MQ27" } ], "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": "A8MQ27", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A8MQ27" } ], "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": "down", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "A8MQ27", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A8MQ27" } ], "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": "up", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "A8MQ27", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A8MQ27" } ], "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Aerodigestive tract cancer, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Escc, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "gastric cardia adenocarcinoma, susceptibility to", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Colorectal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:9256", "evidence": [ { "database": "BioXpress", "id": "A8MQ27", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A8MQ27" } ], "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "A8MQ27", "url": "https://www.uniprot.org/uniprot/A8MQ27" } ], "common_name": "Human" } ], "gene": [ { "name": "NEURL1B", "url": "https://www.uniprot.org/uniprot/A8MQ27", "locus": { "chromosome": "5", "start_pos": 172691540, "end_pos": 172641263, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000214357", "url": "https://www.ensembl.org/id/ENSG00000214357" } ] } } ], "crossref": [ { "id": "ENSG00000214357", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000214357", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "cd16786", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd16786", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "NEURL1B", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=NEURL1B", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "54492", "url": "https://www.ncbi.nlm.nih.gov/gene/54492", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "35422", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=35422", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "IPR001841", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001841", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR006573", "url": "https://www.ebi.ac.uk/interpro/entry/IPR006573", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR013083", "url": "https://www.ebi.ac.uk/interpro/entry/IPR013083", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR037962", "url": "https://www.ebi.ac.uk/interpro/entry/IPR037962", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR043136", "url": "https://www.ebi.ac.uk/interpro/entry/IPR043136", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "615893", "url": "http://www.omim.org/entry/615893", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_A8MQ27", "url": "https://www.nextprot.org/entry/NX_A8MQ27", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "A8MQ27", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=A8MQ27", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "THGPDIN", "url": "https://omabrowser.org/oma/group/THGPDIN/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "5471056at2759", "url": "http://www.orthodb.org/?query=5471056at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR12429", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12429", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR12429:SF10", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12429:SF10", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF07177", "url": "http://pfam.xfam.org/family/PF07177", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF13920", "url": "http://pfam.xfam.org/family/PF13920", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "A8MQ27", "url": "https://pharos.nih.gov/targets/A8MQ27", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_A8MQ27", "url": "http://purl.obolibrary.org/obo/PR_A8MQ27", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-2122948", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2122948", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-2644606", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2644606", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-2691232", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2691232", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-2894862", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2894862", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-2979096", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2979096", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-9013507", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013507", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001136123", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136123", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A8MQ27", "url": "https://www.uniprot.org/uniprot/A8MQ27", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A8MQ27-1", "url": "https://www.uniprot.org/uniprot/A8MQ27-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A8MQ27-2", "url": "https://www.uniprot.org/uniprot/A8MQ27-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A8MQ27-3", "url": "https://www.uniprot.org/uniprot/A8MQ27-3", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MGNTVHRTLPDPSPPARLLATRPCCGPGPERRPVLGEAPRFHAQAKGKNVRLDGHSRRATRRNSFCNGVTFTQRPIRLYEQVRLRLVAVRPGWSGALRFGFTAHDPSLMSAQDIPKYACPDLVTRPGYWAKALPENLALRDTVLAYWADRHGRVFYSVNDGEPVLFHCGVAVGGPLWALIDVYGITDEVQLLESAFADTLTPARLSQARFSACLPPSSHDAANFDNNELENNQVVAKLGHLALGRAPGPPPADAAAAAIPCGPRERPRPASSPALLEADLRFHATRGPDVSLSADRKVACAPRPDGGRTLVFSERPLRPGESLFVEVGRPGLAAPGALAFGITSCDPGVLRPNELPADPDALLDRKEYWVVARAGPVPSGGDALSFTLRPGGDVLLGINGRPRGRLLCVDTTQALWAFFAVRGGVAGQLRLLGTLQSSPATTTPSGSLSGSQDDSDSDMTFSVNQSSSASESSLVTAPSSPLSPPVSPVFSPPEPAGIKNGECTVCFDGEVDTVIYTCGHMCLCHSCGLRLKRQARACCPICRRPIKDVIKIYRP", "length": 555, "header": "sp|A8MQ27-1|NEU1B_HUMAN Isoform 1 of E3 ubiquitin-protein ligase NEURL1B OS=Homo sapiens OX=9606 GN=NEURL1B PE=1 SV=1 CANONICAL=A8MQ27-1" }, "isoforms": [ { "isoform_ac": "A8MQ27-1", "url": "", "sequence": { "sequence": "MGNTVHRTLPDPSPPARLLATRPCCGPGPERRPVLGEAPRFHAQAKGKNVRLDGHSRRATRRNSFCNGVTFTQRPIRLYEQVRLRLVAVRPGWSGALRFGFTAHDPSLMSAQDIPKYACPDLVTRPGYWAKALPENLALRDTVLAYWADRHGRVFYSVNDGEPVLFHCGVAVGGPLWALIDVYGITDEVQLLESAFADTLTPARLSQARFSACLPPSSHDAANFDNNELENNQVVAKLGHLALGRAPGPPPADAAAAAIPCGPRERPRPASSPALLEADLRFHATRGPDVSLSADRKVACAPRPDGGRTLVFSERPLRPGESLFVEVGRPGLAAPGALAFGITSCDPGVLRPNELPADPDALLDRKEYWVVARAGPVPSGGDALSFTLRPGGDVLLGINGRPRGRLLCVDTTQALWAFFAVRGGVAGQLRLLGTLQSSPATTTPSGSLSGSQDDSDSDMTFSVNQSSSASESSLVTAPSSPLSPPVSPVFSPPEPAGIKNGECTVCFDGEVDTVIYTCGHMCLCHSCGLRLKRQARACCPICRRPIKDVIKIYRP", "length": 555, "header": "sp|A8MQ27-1|NEU1B_HUMAN Isoform 1 of E3 ubiquitin-protein ligase NEURL1B OS=Homo sapiens OX=9606 GN=NEURL1B PE=1 SV=1 CANONICAL=A8MQ27-1" }, "locus": { "chromosome": "5", "start_pos": 172686922, "end_pos": 172641407, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000369800.6", "url": "https://www.ensembl.org/id/ENST00000369800.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000358815.5", "url": "https://www.ensembl.org/id/ENSP00000358815.5" } ] } }, { "isoform_ac": "A8MQ27-2", "url": "", "sequence": { "sequence": "MGNTVHRTLPESAFADTLTPARLSQARFSACLPPSSHDAANFDNNELENNQVVAKLGHLALGRAPGPPPADAAAAAIPCGPRERPRPASSPALLEADLRFHATRGPDVSLSADRKVACAPRPDGGRTLVFSERPLRPGESLFVEVGRPGLAAPGALAFGITSCDPGVLRPNELPADPDALLDRKEYWVVARAGPVPSGGDALSFTLRPGGDVLLGINGRPRGRLLCVDTTQALWAFFAVRGGVAGQLRLLGTLQSSPATTTPSGSLSGSQDDSDSDMTFSVNQSSSASESSLVTAPSSPLSPPVSPVFSPPEPAGIKNGECTVCFDGEVDTVIYTCGHMCLCHSCGLRLKRQARACCPICRRPIKDVIKIYRP", "length": 373, "header": "sp|A8MQ27-2|NEU1B_HUMAN Isoform 2 of E3 ubiquitin-protein ligase NEURL1B OS=Homo sapiens OX=9606 GN=NEURL1B PE=1 SV=1 CANONICAL=A8MQ27-1" }, "locus": { "chromosome": "5", "start_pos": 172686922, "end_pos": 172641407, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000522853.5", "url": "https://www.ensembl.org/id/ENST00000522853.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000430001.1", "url": "https://www.ensembl.org/id/ENSP00000430001.1" } ] } }, { "isoform_ac": "A8MQ27-3", "url": "", "sequence": { "sequence": "MGNTVHRTLPDPSPPARLLATRPCCGPGPERRPVLGEAPRFHAQAKGKNVRLDGHSRRATRRNSFCNGVTFTQRPIRLYEQVRLRLVAVRPGWSGALRFGFTAHDPSLMSAQDIPKYACPDLVTRPGYWAKALPENLALRDTVLAYWADRHGRVFYSVNDGEPVLFHCGVAVGGPLWALIDVYGITDEVQLLGTLQSSPATTTPSGSLSGSQDDSDSDMTFSVNQSSSASESSLVTAPSSPLSPPVSPVFSPPEPAGIKNGECTVCFDGEVDTVIYTCGHMCLCHSCGLRLKRQARACCPICRRPIKDVIKIYRP", "length": 315, "header": "sp|A8MQ27-3|NEU1B_HUMAN Isoform 3 of E3 ubiquitin-protein ligase NEURL1B OS=Homo sapiens OX=9606 GN=NEURL1B PE=1 SV=1 CANONICAL=A8MQ27-1" }, "locus": { "chromosome": "5", "start_pos": 172686922, "end_pos": 172641407, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000520919.5", "url": "https://www.ensembl.org/id/ENST00000520919.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000429797.1", "url": "https://www.ensembl.org/id/ENSP00000429797.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "A8MQ27", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=A8MQ27" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" } ] } ], "phosphorylation": [ { "start_pos": 13, "end_pos": 13, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "A8MQ27", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A8MQ27" }, { "database": "PubMed", "id": "32387766", "url": "" } ], "site_lbl": "Ser13" }, { "start_pos": 199, "end_pos": 199, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "A8MQ27", "url": "https://www.uniprot.org/uniprot/A8MQ27" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "A8MQ27", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A8MQ27" } ], "site_lbl": "Thr199" } ], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Human ligands of the Notch receptor.", "journal": "The American journal of pathology", "date": "1999", "authors": "Gray GE, Mann RS, Mitsiadis E, Henrique D, Carcangiu ML, Banks A, Leiman J, Ward D, Ish-Horowitz D, Artavanis-Tsakonas S", "evidence": [ { "database": "Reactome", "id": "R-HSA-9013507", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013507" } ], "reference": [ { "type": "PubMed", "id": "10079256", "url": "https://glygen.org/publication/PubMed/10079256" } ] }, { "title": "A presenilin-1-dependent gamma-secretase-like protease mediates release of Notch intracellular domain.", "journal": "Nature", "date": "1999", "authors": "De Strooper B, Annaert W, Cupers P, Saftig P, Craessaerts K, Mumm JS, Schroeter EH, Schrijvers V, Wolfe MS, Ray WJ, Goate A, Kopan R", "evidence": [ { "database": "Reactome", "id": "R-HSA-2122948", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2122948" } ], "reference": [ { "type": "PubMed", "id": "10206645", "url": "https://glygen.org/publication/PubMed/10206645" } ] }, { "title": "Mouse jagged1 physically interacts with notch2 and other notch receptors. Assessment by quantitative methods.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Shimizu K, Chiba S, Kumano K, Hosoya N, Takahashi T, Kanda Y, Hamada Y, Yazaki Y, Hirai H", "evidence": [ { "database": "Reactome", "id": "R-HSA-2979096", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2979096" } ], "reference": [ { "type": "PubMed", "id": "10551863", "url": "https://glygen.org/publication/PubMed/10551863" } ] }, { "title": "SKIP, a CBF1-associated protein, interacts with the ankyrin repeat domain of NotchIC To facilitate NotchIC function.", "journal": "Molecular and cellular biology", "date": "2000", "authors": "Zhou S, Fujimuro M, Hsieh JJ, Chen L, Miyamoto A, Weinmaster G, Hayward SD", "evidence": [ { "database": "Reactome", "id": "R-HSA-2644606", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2644606" } ], "reference": [ { "type": "PubMed", "id": "10713164", "url": "https://glygen.org/publication/PubMed/10713164" } ] }, { "title": "Embryonic lethality in mice homozygous for a processing-deficient allele of Notch1.", "journal": "Nature", "date": "2000", "authors": "Huppert SS, Le A, Schroeter EH, Mumm JS, Saxena MT, Milner LA, Kopan R", "evidence": [ { "database": "Reactome", "id": "R-HSA-2122948", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2122948" } ], "reference": [ { "type": "PubMed", "id": "10879540", "url": "https://glygen.org/publication/PubMed/10879540" } ] }, { "title": "A novel proteolytic cleavage involved in Notch signaling: the role of the disintegrin-metalloprotease TACE.", "journal": "Molecular cell", "date": "2000", "authors": "Brou C, Logeat F, Gupta N, Bessia C, LeBail O, Doedens JR, Cumano A, Roux P, Black RA, Israel A", "evidence": [ { "database": "Reactome", "id": "R-HSA-2122948", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2122948" } ], "reference": [ { "type": "PubMed", "id": "10882063", "url": "https://glygen.org/publication/PubMed/10882063" } ] }, { "title": "Fringe differentially modulates Jagged1 and Delta1 signalling through Notch1 and Notch2.", "journal": "Nature cell biology", "date": "2000", "authors": "Hicks C, Johnston SH, diSibio G, Collazo A, Vogt TF, Weinmaster G", "evidence": [ { "database": "Reactome", "id": "R-HSA-2979096", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2979096" } ], "reference": [ { "type": "PubMed", "id": "10934472", "url": "https://glygen.org/publication/PubMed/10934472" } ] }, { "title": "Binding of Delta1, Jagged1, and Jagged2 to Notch2 rapidly induces cleavage, nuclear translocation, and hyperphosphorylation of Notch2.", "journal": "Molecular and cellular biology", "date": "2000", "authors": "Shimizu K, Chiba S, Hosoya N, Kumano K, Saito T, Kurokawa M, Kanda Y, Hamada Y, Hirai H", "evidence": [ { "database": "Reactome", "id": "R-HSA-2979096", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2979096" } ], "reference": [ { "type": "PubMed", "id": "10958687", "url": "https://glygen.org/publication/PubMed/10958687" } ] }, { "title": "Comparative analysis of the human and mouse Hey1 promoter: Hey genes are new Notch target genes.", "journal": "Biochemical and biophysical research communications", "date": "2000", "authors": "Maier MM, Gessler M", "evidence": [ { "database": "Reactome", "id": "R-HSA-2644606", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2644606" } ], "reference": [ { "type": "PubMed", "id": "10964718", "url": "https://glygen.org/publication/PubMed/10964718" } ] }, { "title": "Physical interaction of Delta1, Jagged1, and Jagged2 with Notch1 and Notch3 receptors.", "journal": "Biochemical and biophysical research communications", "date": "2000", "authors": "Shimizu K, Chiba S, Saito T, Kumano K, Hirai H", "evidence": [ { "database": "Reactome", "id": "R-HSA-2122948", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2122948" } ], "reference": [ { "type": "PubMed", "id": "11006133", "url": "https://glygen.org/publication/PubMed/11006133" } ] }, { "title": "Analysis of HeyL expression in wild-type and Notch pathway mutant mouse embryos.", "journal": "Mechanisms of development", "date": "2000", "authors": "Leimeister C, Schumacher N, Steidl C, Gessler M", "evidence": [ { "database": "Reactome", "id": "R-HSA-2644606", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2644606" } ], "reference": [ { "type": "PubMed", "id": "11044625", "url": "https://glygen.org/publication/PubMed/11044625" } ] }, { "title": "Defects in development of the kidney, heart and eye vasculature in mice homozygous for a hypomorphic Notch2 mutation.", "journal": "Development (Cambridge, England)", "date": "2001", "authors": "McCright B, Gao X, Shen L, Lozier J, Lan Y, Maguire M, Herzlinger D, Weinmaster G, Jiang R, Gridley T", "evidence": [ { "database": "Reactome", "id": "R-HSA-2979096", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2979096" } ], "reference": [ { "type": "PubMed", "id": "11171333", "url": "https://glygen.org/publication/PubMed/11171333" } ] }, { "title": "Murine homologs of deltex define a novel gene family involved in vertebrate Notch signaling and neurogenesis.", "journal": "International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience", "date": "2001", "authors": "Kishi N, Tang Z, Maeda Y, Hirai A, Mo R, Ito M, Suzuki S, Nakao K, Kinoshita T, Kadesch T, Hui C, Artavanis-Tsakonas S, Okano H, Matsuno K", "evidence": [ { "database": "Reactome", "id": "R-HSA-2122948", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2122948" } ], "reference": [ { "type": "PubMed", "id": "11226752", "url": "https://glygen.org/publication/PubMed/11226752" } ] }, { "title": "Murine notch homologs (N1-4) undergo presenilin-dependent proteolysis.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Saxena MT, Schroeter EH, Mumm JS, Kopan R", "evidence": [ { "database": "Reactome", "id": "R-HSA-2979096", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2979096" } ], "reference": [ { "type": "PubMed", "id": "11518718", "url": "https://glygen.org/publication/PubMed/11518718" } ] }, { "title": "Drosophila neuralized is a ubiquitin ligase that promotes the internalization and degradation of delta.", "journal": "Developmental cell", "date": "2001", "authors": "Lai EC, Deblandre GA, Kintner C, Rubin GM", "evidence": [ { "database": "Reactome", "id": "R-HSA-2122948", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2122948" } ], "reference": [ { "type": "PubMed", "id": "11740940", "url": "https://glygen.org/publication/PubMed/11740940" } ] }, { "title": "Integrity of intracellular domain of Notch ligand is indispensable for cleavage required for release of the Notch2 intracellular domain.", "journal": "The EMBO journal", "date": "2002", "authors": "Shimizu K, Chiba S, Saito T, Takahashi T, Kumano K, Hamada Y, Hirai H", "evidence": [ { "database": "Reactome", "id": "R-HSA-2979096", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2979096" } ], "reference": [ { "type": "PubMed", "id": "11823422", "url": "https://glygen.org/publication/PubMed/11823422" } ] }, { "title": "A mouse model of Alagille syndrome: Notch2 as a genetic modifier of Jag1 haploinsufficiency.", "journal": "Development (Cambridge, England)", "date": "2002", "authors": "McCright B, Lozier J, Gridley T", "evidence": [ { "database": "Reactome", "id": "R-HSA-2979096", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2979096" } ], "reference": [ { "type": "PubMed", "id": "11861489", "url": "https://glygen.org/publication/PubMed/11861489" } ] }, { "title": "Mastermind mediates chromatin-specific transcription and turnover of the Notch enhancer complex.", "journal": "Genes & development", "date": "2002", "authors": "Fryer CJ, Lamar E, Turbachova I, Kintner C, Jones KA", "evidence": [ { "database": "Reactome", "id": "R-HSA-2644606", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2644606" } ], "reference": [ { "type": "PubMed", "id": "12050117", "url": "https://glygen.org/publication/PubMed/12050117" } ] }, { "title": "Gamma-secretase-mediated proteolysis in cell-surface-receptor signalling.", "journal": "Nature reviews. Molecular cell biology", "date": "2002", "authors": "Fortini ME", "evidence": [ { "database": "Reactome", "id": "R-HSA-2122948", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2122948" } ], "reference": [ { "type": "PubMed", "id": "12209127", "url": "https://glygen.org/publication/PubMed/12209127" } ] }, { "title": "The disintegrin/metalloprotease ADAM 10 is essential for Notch signalling but not for alpha-secretase activity in fibroblasts.", "journal": "Human molecular genetics", "date": "2002", "authors": "Hartmann D, de Strooper B, Serneels L, Craessaerts K, Herreman A, Annaert W, Umans L, Lubke T, Lena Illert A, von Figura K, Saftig P", "evidence": [ { "database": "Reactome", "id": "R-HSA-2122948", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2122948" } ], "reference": [ { "type": "PubMed", "id": "12354787", "url": "https://glygen.org/publication/PubMed/12354787" } ] }, { "title": "p300 and PCAF act cooperatively to mediate transcriptional activation from chromatin templates by notch intracellular domains in vitro.", "journal": "Molecular and cellular biology", "date": "2002", "authors": "Wallberg AE, Pedersen K, Lendahl U, Roeder RG", "evidence": [ { "database": "Reactome", "id": "R-HSA-2644606", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2644606" } ], "reference": [ { "type": "PubMed", "id": "12391150", "url": "https://glygen.org/publication/PubMed/12391150" } ] }, { "title": "Mind bomb is a ubiquitin ligase that is essential for efficient activation of Notch signaling by Delta.", "journal": "Developmental cell", "date": "2003", "authors": "Itoh M, Kim CH, Palardy G, Oda T, Jiang YJ, Maust D, Yeo SY, Lorick K, Wright GJ, Ariza-McNaughton L, Weissman AM, Lewis J, Chandrasekharappa SC, Chitnis AB", "evidence": [ { "database": "Reactome", "id": "R-HSA-2122948", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2122948" } ], "reference": [ { "type": "PubMed", "id": "12530964", "url": "https://glygen.org/publication/PubMed/12530964" } ] }, { "title": "F3/contactin acts as a functional ligand for Notch during oligodendrocyte maturation.", "journal": "Cell", "date": "2003", "authors": "Hu QD, Ang BT, Karsak M, Hu WP, Cui XY, Duka T, Takeda Y, Chia W, Sankar N, Ng YK, Ling EA, Maciag T, Small D, Trifonova R, Kopan R, Okano H, Nakafuku M, Chiba S, Hirai H, Aster JC, Schachner M, Pallen CJ, Watanabe K, Xiao ZC", "evidence": [ { "database": "Reactome", "id": "R-HSA-2122948", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2122948" } ], "reference": [ { "type": "PubMed", "id": "14567914", "url": "https://glygen.org/publication/PubMed/14567914" } ] }, { "title": "A corepressor/coactivator exchange complex required for transcriptional activation by nuclear receptors and other regulated transcription factors.", "journal": "Cell", "date": "2004", "authors": "Perissi V, Aggarwal A, Glass CK, Rose DW, Rosenfeld MG", "evidence": [ { "database": "Reactome", "id": "R-HSA-2644606", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2644606" } ], "reference": [ { "type": "PubMed", "id": "14980219", "url": "https://glygen.org/publication/PubMed/14980219" } ] }, { "title": "The Notch target genes Hey1 and Hey2 are required for embryonic vascular development.", "journal": "Genes & development", "date": "2004", "authors": "Fischer A, Schumacher N, Maier M, Sendtner M, Gessler M", "evidence": [ { "database": "Reactome", "id": "R-HSA-2644606", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2644606" } ], "reference": [ { "type": "PubMed", "id": "15107403", "url": "https://glygen.org/publication/PubMed/15107403" } ] }, { "title": "Periodic Delta-like 4 expression in developing retinal arteries.", "journal": "Gene expression patterns : GEP", "date": "2004", "authors": "Claxton S, Fruttiger M", "evidence": [ { "database": "Reactome", "id": "R-HSA-9013507", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013507" } ], "reference": [ { "type": "PubMed", "id": "15533827", "url": "https://glygen.org/publication/PubMed/15533827" } ] }, { "title": "Mastermind recruits CycC:CDK8 to phosphorylate the Notch ICD and coordinate activation with turnover.", "journal": "Molecular cell", "date": "2004", "authors": "Fryer CJ, White JB, Jones KA", "evidence": [ { "database": "Reactome", "id": "R-HSA-2644606", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2644606" } ], "reference": [ { "type": "PubMed", "id": "15546612", "url": "https://glygen.org/publication/PubMed/15546612" } ] }, { "title": "Function of Delta4 gene and its effects on 32D cell differentiation.", "journal": "Chinese medical journal", "date": "2004", "authors": "Ji CY, Cui CS, Ma DX, Zhao JQ, Guo NJ, Zhang MH", "evidence": [ { "database": "Reactome", "id": "R-HSA-2979096", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2979096" } ], "reference": [ { "type": "PubMed", "id": "15569487", "url": "https://glygen.org/publication/PubMed/15569487" } ] }, { "title": "Fringe glycosyltransferases differentially modulate Notch1 proteolysis induced by Delta1 and Jagged1.", "journal": "Molecular biology of the cell", "date": "2005", "authors": "Yang LT, Nichols JT, Yao C, Manilay JO, Robey EA, Weinmaster G", "evidence": [ { "database": "Reactome", "id": "R-HSA-2122948", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2122948" } ], "reference": [ { "type": "PubMed", "id": "15574878", "url": "https://glygen.org/publication/PubMed/15574878" } ] }, { "title": "dlk acts as a negative regulator of Notch1 activation through interactions with specific EGF-like repeats.", "journal": "Experimental cell research", "date": "2005", "authors": "Baladron V, Ruiz-Hidalgo MJ, Nueda ML, Diaz-Guerra MJ, Garcia-Ramirez JJ, Bonvini E, Gubina E, Laborda J", "evidence": [ { "database": "Reactome", "id": "R-HSA-2122948", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2122948" } ], "reference": [ { "type": "PubMed", "id": "15652348", "url": "https://glygen.org/publication/PubMed/15652348" } ] }, { "title": "Two distinct E3 ubiquitin ligases have complementary functions in the regulation of delta and serrate signaling in Drosophila.", "journal": "PLoS biology", "date": "2005", "authors": "Le Borgne R, Remaud S, Hamel S, Schweisguth F", "evidence": [ { "database": "Reactome", "id": "R-HSA-2122948", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2122948" } ], "reference": [ { "type": "PubMed", "id": "15760269", "url": "https://glygen.org/publication/PubMed/15760269" } ] }, { "title": "Mind bomb-2 is an E3 ligase for Notch ligand.", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Koo BK, Yoon KJ, Yoo KW, Lim HS, Song R, So JH, Kim CH, Kong YY", "evidence": [ { "database": "Reactome", "id": "R-HSA-2122948", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2122948" } ], "reference": [ { "type": "PubMed", "id": "15824097", "url": "https://glygen.org/publication/PubMed/15824097" } ] }, { "title": "The ubiquitin ligase Drosophila Mind bomb promotes Notch signaling by regulating the localization and activity of Serrate and Delta.", "journal": "Development (Cambridge, England)", "date": "2005", "authors": "Lai EC, Roegiers F, Qin X, Jan YN, Rubin GM", "evidence": [ { "database": "Reactome", "id": "R-HSA-2122948", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2122948" } ], "reference": [ { "type": "PubMed", "id": "15829515", "url": "https://glygen.org/publication/PubMed/15829515" } ] }, { "title": "DNER acts as a neuron-specific Notch ligand during Bergmann glial development.", "journal": "Nature neuroscience", "date": "2005", "authors": "Eiraku M, Tohgo A, Ono K, Kaneko M, Fujishima K, Hirano T, Kengaku M", "evidence": [ { "database": "Reactome", "id": "R-HSA-2122948", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2122948" } ], "reference": [ { "type": "PubMed", "id": "15965470", "url": "https://glygen.org/publication/PubMed/15965470" } ] }, { "title": "The interplay between DSL proteins and ubiquitin ligases in Notch signaling.", "journal": "Development (Cambridge, England)", "date": "2005", "authors": "Pitsouli C, Delidakis C", "evidence": [ { "database": "Reactome", "id": "R-HSA-2122948", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2122948" } ], "reference": [ { "type": "PubMed", "id": "16093323", "url": "https://glygen.org/publication/PubMed/16093323" } ] }, { "title": "Regulation of Notch signalling by non-visual beta-arrestin.", "journal": "Nature cell biology", "date": "2005", "authors": "Mukherjee A, Veraksa A, Bauer A, Rosse C, Camonis J, Artavanis-Tsakonas S", "evidence": [ { "database": "Reactome", "id": "R-HSA-2122948", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2122948" } ], "reference": [ { "type": "PubMed", "id": "16284625", "url": "https://glygen.org/publication/PubMed/16284625" } ] }, { "title": "Structural basis for cooperativity in recruitment of MAML coactivators to Notch transcription complexes.", "journal": "Cell", "date": "2006", "authors": "Nam Y, Sliz P, Song L, Aster JC, Blacklow SC", "evidence": [ { "database": "Reactome", "id": "R-HSA-2644606", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2644606" } ], "reference": [ { "type": "PubMed", "id": "16530044", "url": "https://glygen.org/publication/PubMed/16530044" } ] }, { "title": "Leukemia-associated mutations within the NOTCH1 heterodimerization domain fall into at least two distinct mechanistic classes.", "journal": "Molecular and cellular biology", "date": "2006", "authors": "Malecki MJ, Sanchez-Irizarry C, Mitchell JL, Histen G, Xu ML, Aster JC, Blacklow SC", "evidence": [ { "database": "Reactome", "id": "R-HSA-2894862", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2894862" } ], "reference": [ { "type": "PubMed", "id": "16738328", "url": "https://glygen.org/publication/PubMed/16738328" } ] }, { "title": "NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway.", "journal": "American journal of human genetics", "date": "2006", "authors": "McDaniell R, Warthen DM, Sanchez-Lara PA, Pai A, Krantz ID, Piccoli DA, Spinner NB", "evidence": [ { "database": "Reactome", "id": "R-HSA-2979096", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2979096" } ], "reference": [ { "type": "PubMed", "id": "16773578", "url": "https://glygen.org/publication/PubMed/16773578" } ] }, { "title": "Neuralized-2 regulates a Notch ligand in cooperation with Mind bomb-1.", "journal": "The Journal of biological chemistry", "date": "2006", "authors": "Song R, Koo BK, Yoon KJ, Yoon MJ, Yoo KW, Kim HT, Oh HJ, Kim YY, Han JK, Kim CH, Kong YY", "evidence": [ { "database": "Reactome", "id": "R-HSA-2122948", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2122948" } ], "reference": [ { "type": "PubMed", "id": "17003037", "url": "https://glygen.org/publication/PubMed/17003037" } ] }, { "title": "Itch/AIP4 mediates Deltex degradation through the formation of K29-linked polyubiquitin chains.", "journal": "EMBO reports", "date": "2006", "authors": "Chastagner P, Israel A, Brou C", "evidence": [ { "database": "Reactome", "id": "R-HSA-2122948", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2122948" } ], "reference": [ { "type": "PubMed", "id": "17028573", "url": "https://glygen.org/publication/PubMed/17028573" } ] }, { "title": "NOTCH1 directly regulates c-MYC and activates a feed-forward-loop transcriptional network promoting leukemic cell growth.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2006", "authors": "Palomero T, Lim WK, Odom DT, Sulis ML, Real PJ, Margolin A, Barnes KC, O'Neil J, Neuberg D, Weng AP, Aster JC, Sigaux F, Soulier J, Look AT, Young RA, Califano A, Ferrando AA", "evidence": [ { "database": "Reactome", "id": "R-HSA-2644606", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2644606" } ], "reference": [ { "type": "PubMed", "id": "17114293", "url": "https://glygen.org/publication/PubMed/17114293" } ] }, { "title": "Structural basis for autoinhibition of Notch.", "journal": "Nature structural & molecular biology", "date": "2007", "authors": "Gordon WR, Vardar-Ulu D, Histen G, Sanchez-Irizarry C, Aster JC, Blacklow SC", "evidence": [ { "database": "Reactome", "id": "R-HSA-2122948", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2122948" } ], "reference": [ { "type": "PubMed", "id": "17401372", "url": "https://glygen.org/publication/PubMed/17401372" } ] }, { "title": "The SCFFBW7 ubiquitin ligase complex as a tumor suppressor in T cell leukemia.", "journal": "The Journal of experimental medicine", "date": "2007", "authors": "Thompson BJ, Buonamici S, Sulis ML, Palomero T, Vilimas T, Basso G, Ferrando A, Aifantis I", "evidence": [ { "database": "Reactome", "id": "R-HSA-2644606", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2644606" } ], "reference": [ { "type": "PubMed", "id": "17646408", "url": "https://glygen.org/publication/PubMed/17646408" } ] }, { "title": "FBW7 mutations in leukemic cells mediate NOTCH pathway activation and resistance to gamma-secretase inhibitors.", "journal": "The Journal of experimental medicine", "date": "2007", "authors": "O'Neil J, Grim J, Strack P, Rao S, Tibbitts D, Winter C, Hardwick J, Welcker M, Meijerink JP, Pieters R, Draetta G, Sears R, Clurman BE, Look AT", "evidence": [ { "database": "Reactome", "id": "R-HSA-2644606", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2644606" } ], "reference": [ { "type": "PubMed", "id": "17646409", "url": "https://glygen.org/publication/PubMed/17646409" } ] }, { "title": "An obligatory role of mind bomb-1 in notch signaling of mammalian development.", "journal": "PloS one", "date": "2007", "authors": "Koo BK, Yoon MJ, Yoon KJ, Im SK, Kim YY, Kim CH, Suh PG, Jan YN, Kong YY", "evidence": [ { "database": "Reactome", "id": "R-HSA-2122948", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2122948" } ], "reference": [ { "type": "PubMed", "id": "18043734", "url": "https://glygen.org/publication/PubMed/18043734" } ] }, { "title": "Neuralized-like 1 (Neurl1) targeted to the plasma membrane by N-myristoylation regulates the Notch ligand Jagged1.", "journal": "The Journal of biological chemistry", "date": "2008", "authors": "Koutelou E, Sato S, Tomomori-Sato C, Florens L, Swanson SK, Washburn MP, Kokkinaki M, Conaway RC, Conaway JW, Moschonas NK", "evidence": [ { "database": "Reactome", "id": "R-HSA-2122948", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2122948" } ], "reference": [ { "type": "PubMed", "id": "18077452", "url": "https://glygen.org/publication/PubMed/18077452" } ] }, { "title": "The atypical mammalian ligand Delta-like homologue 1 (Dlk1) can regulate Notch signalling in Drosophila.", "journal": "BMC developmental biology", "date": "2008", "authors": "Bray SJ, Takada S, Harrison E, Shen SC, Ferguson-Smith AC", "evidence": [ { "database": "Reactome", "id": "R-HSA-2122948", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2122948" } ], "reference": [ { "type": "PubMed", "id": "18237417", "url": "https://glygen.org/publication/PubMed/18237417" } ] }, { "title": "Localization of the delta-like-1-binding site in human Notch-1 and its modulation by calcium affinity.", "journal": "The Journal of biological chemistry", "date": "2008", "authors": "Cordle J, Redfieldz C, Stacey M, van der Merwe PA, Willis AC, Champion BR, Hambleton S, Handford PA", "evidence": [ { "database": "Reactome", "id": "R-HSA-2122948", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2122948" } ], "reference": [ { "type": "PubMed", "id": "18296446", "url": "https://glygen.org/publication/PubMed/18296446" } ] }, { "title": "TBL1 and TBLR1 phosphorylation on regulated gene promoters overcomes dual CtBP and NCoR/SMRT transcriptional repression checkpoints.", "journal": "Molecular cell", "date": "2008", "authors": "Perissi V, Scafoglio C, Zhang J, Ohgi KA, Rose DW, Glass CK, Rosenfeld MG", "evidence": [ { "database": "Reactome", "id": "R-HSA-2644606", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2644606" } ], "reference": [ { "type": "PubMed", "id": "18374649", "url": "https://glygen.org/publication/PubMed/18374649" } ] }, { "title": "Expression and function of the Delta-1/Notch-2/Hes-1 pathway during experimental acute kidney injury.", "journal": "Kidney international", "date": "2008", "authors": "Kobayashi T, Terada Y, Kuwana H, Tanaka H, Okado T, Kuwahara M, Tohda S, Sakano S, Sasaki S", "evidence": [ { "database": "Reactome", "id": "R-HSA-2979096", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2979096" } ], "reference": [ { "type": "PubMed", "id": "18418349", "url": "https://glygen.org/publication/PubMed/18418349" } ] }, { "title": "Midkine induces epithelial-mesenchymal transition through Notch2/Jak2-Stat3 signaling in human keratinocytes.", "journal": "Cell cycle (Georgetown, Tex.)", "date": "2008", "authors": "Huang Y, Hoque MO, Wu F, Trink B, Sidransky D, Ratovitski EA", "evidence": [ { "database": "Reactome", "id": "R-HSA-2979096", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2979096" } ], "reference": [ { "type": "PubMed", "id": "18469519", "url": "https://glygen.org/publication/PubMed/18469519" } ] }, { "title": "AIP4/Itch regulates Notch receptor degradation in the absence of ligand.", "journal": "PloS one", "date": "2008", "authors": "Chastagner P, Israel A, Brou C", "evidence": [ { "database": "Reactome", "id": "R-HSA-2122948", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2122948" } ], "reference": [ { "type": "PubMed", "id": "18628966", "url": "https://glygen.org/publication/PubMed/18628966" } ] }, { "title": "A conserved face of the Jagged/Serrate DSL domain is involved in Notch trans-activation and cis-inhibition.", "journal": "Nature structural & molecular biology", "date": "2008", "authors": "Cordle J, Johnson S, Tay JZ, Roversi P, Wilkin MB, de Madrid BH, Shimizu H, Jensen S, Whiteman P, Jin B, Redfield C, Baron M, Lea SM, Handford PA", "evidence": [ { "database": "Reactome", "id": "R-HSA-2122948", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2122948" } ], "reference": [ { "type": "PubMed", "id": "18660822", "url": "https://glygen.org/publication/PubMed/18660822" } ] }, { "title": "OSM-11 facilitates LIN-12 Notch signaling during Caenorhabditis elegans vulval development.", "journal": "PLoS biology", "date": "2008", "authors": "Komatsu H, Chao MY, Larkins-Ford J, Corkins ME, Somers GA, Tucey T, Dionne HM, White JQ, Wani K, Boxem M, Hart AC", "evidence": [ { "database": "Reactome", "id": "R-HSA-2122948", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2122948" } ], "reference": [ { "type": "PubMed", "id": "18700817", "url": "https://glygen.org/publication/PubMed/18700817" } ] }, { "title": "Delta-like 4 is indispensable in thymic environment specific for T cell development.", "journal": "The Journal of experimental medicine", "date": "2008", "authors": "Hozumi K, Mailhos C, Negishi N, Hirano K, Yahata T, Ando K, Zuklys S, Hollander GA, Shima DT, Habu S", "evidence": [ { "database": "Reactome", "id": "R-HSA-2122948", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2122948" } ], "reference": [ { "type": "PubMed", "id": "18824583", "url": "https://glygen.org/publication/PubMed/18824583" } ] }, { "title": "Delta-like 4 is the essential, nonredundant ligand for Notch1 during thymic T cell lineage commitment.", "journal": "The Journal of experimental medicine", "date": "2008", "authors": "Koch U, Fiorini E, Benedito R, Besseyrias V, Schuster-Gossler K, Pierres M, Manley NR, Duarte A, Macdonald HR, Radtke F", "evidence": [ { "database": "Reactome", "id": "R-HSA-2122948", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2122948" } ], "reference": [ { "type": "PubMed", "id": "18824585", "url": "https://glygen.org/publication/PubMed/18824585" } ] }, { "title": "Drosophila HOPS and AP-3 complex genes are required for a Deltex-regulated activation of notch in the endosomal trafficking pathway.", "journal": "Developmental cell", "date": "2008", "authors": "Wilkin M, Tongngok P, Gensch N, Clemence S, Motoki M, Yamada K, Hori K, Taniguchi-Kanai M, Franklin E, Matsuno K, Baron M", "evidence": [ { "database": "Reactome", "id": "R-HSA-2122948", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2122948" } ], "reference": [ { "type": "PubMed", "id": "19000840", "url": "https://glygen.org/publication/PubMed/19000840" } ] }, { "title": "The prolyl-isomerase Pin1 is a Notch1 target that enhances Notch1 activation in cancer.", "journal": "Nature cell biology", "date": "2009", "authors": "Rustighi A, Tiberi L, Soldano A, Napoli M, Nuciforo P, Rosato A, Kaplan F, Capobianco A, Pece S, Di Fiore PP, Del Sal G", "evidence": [ { "database": "Reactome", "id": "R-HSA-2122948", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2122948" } ], "reference": [ { "type": "PubMed", "id": "19151708", "url": "https://glygen.org/publication/PubMed/19151708" } ] }, { "title": "Cross-talk between tumor and endothelial cells involving the Notch3-Dll4 interaction marks escape from tumor dormancy.", "journal": "Cancer research", "date": "2009", "authors": "Indraccolo S, Minuzzo S, Masiero M, Pusceddu I, Persano L, Moserle L, Reboldi A, Favaro E, Mecarozzi M, Di Mario G, Screpanti I, Ponzoni M, Doglioni C, Amadori A", "evidence": [ { "database": "Reactome", "id": "R-HSA-9013507", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013507" } ], "reference": [ { "type": "PubMed", "id": "19208840", "url": "https://glygen.org/publication/PubMed/19208840" } ] }, { "title": "The notch ligands Dll4 and Jagged1 have opposing effects on angiogenesis.", "journal": "Cell", "date": "2009", "authors": "Benedito R, Roca C, Sorensen I, Adams S, Gossler A, Fruttiger M, Adams RH", "evidence": [ { "database": "Reactome", "id": "R-HSA-2122948", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2122948" } ], "reference": [ { "type": "PubMed", "id": "19524514", "url": "https://glygen.org/publication/PubMed/19524514" } ] }, { "title": "Numb regulates post-endocytic trafficking and degradation of Notch1.", "journal": "The Journal of biological chemistry", "date": "2009", "authors": "McGill MA, Dho SE, Weinmaster G, McGlade CJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-2122948", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2122948" } ], "reference": [ { "type": "PubMed", "id": "19567869", "url": "https://glygen.org/publication/PubMed/19567869" } ] }, { "title": "Neuralized-2: expression in human and rodents and interaction with Delta-like ligands.", "journal": "Biochemical and biophysical research communications", "date": "2009", "authors": "Rullinkov G, Tamme R, Sarapuu A, Lauren J, Sepp M, Palm K, Timmusk T", "evidence": [ { "database": "UniProtKB", "id": "A8MQ27", "url": "https://www.uniprot.org/uniprot/A8MQ27" }, { "database": "RefSeq", "id": "NP_001136123", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136123" } ], "reference": [ { "type": "PubMed", "id": "19723503", "url": "https://glygen.org/publication/PubMed/19723503" } ] }, { "title": "Metalloprotease ADAM10 is required for Notch1 site 2 cleavage.", "journal": "The Journal of biological chemistry", "date": "2009", "authors": "van Tetering G, van Diest P, Verlaan I, van der Wall E, Kopan R, Vooijs M", "evidence": [ { "database": "Reactome", "id": "R-HSA-2122948", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2122948" } ], "reference": [ { "type": "PubMed", "id": "19726682", "url": "https://glygen.org/publication/PubMed/19726682" } ] }, { "title": "ADAM10 is essential for Notch2-dependent marginal zone B cell development and CD23 cleavage in vivo.", "journal": "The Journal of experimental medicine", "date": "2010", "authors": "Gibb DR, El Shikh M, Kang DJ, Rowe WJ, El Sayed R, Cichy J, Yagita H, Tew JG, Dempsey PJ, Crawford HC, Conrad DH", "evidence": [ { "database": "Reactome", "id": "R-HSA-2979096", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2979096" } ], "reference": [ { "type": "PubMed", "id": "20156974", "url": "https://glygen.org/publication/PubMed/20156974" } ] }, { "title": "Cis-interactions between Notch and Delta generate mutually exclusive signalling states.", "journal": "Nature", "date": "2010", "authors": "Sprinzak D, Lakhanpal A, Lebon L, Santat LA, Fontes ME, Anderson GA, Garcia-Ojalvo J, Elowitz MB", "evidence": [ { "database": "Reactome", "id": "R-HSA-2122948", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2122948" } ], "reference": [ { "type": "PubMed", "id": "20418862", "url": "https://glygen.org/publication/PubMed/20418862" } ] }, { "title": "Structural and mechanistic insights into cooperative assembly of dimeric Notch transcription complexes.", "journal": "Nature structural & molecular biology", "date": "2010", "authors": "Arnett KL, Hass M, McArthur DG, Ilagan MX, Aster JC, Kopan R, Blacklow SC", "evidence": [ { "database": "Reactome", "id": "R-HSA-2644606", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2644606" } ], "reference": [ { "type": "PubMed", "id": "20972443", "url": "https://glygen.org/publication/PubMed/20972443" } ] }, { "title": "Notch signaling activated by replication stress-induced expression of midkine drives epithelial-mesenchymal transition and chemoresistance in pancreatic cancer.", "journal": "Cancer research", "date": "2011", "authors": "Gungor C, Zander H, Effenberger KE, Vashist YK, Kalinina T, Izbicki JR, Yekebas E, Bockhorn M", "evidence": [ { "database": "Reactome", "id": "R-HSA-2979096", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2979096" } ], "reference": [ { "type": "PubMed", "id": "21632553", "url": "https://glygen.org/publication/PubMed/21632553" } ] }, { "title": "Synergy between the ESCRT-III complex and Deltex defines a ligand-independent Notch signal.", "journal": "The Journal of cell biology", "date": "2011", "authors": "Hori K, Sen A, Kirchhausen T, Artavanis-Tsakonas S", "evidence": [ { "database": "Reactome", "id": "R-HSA-2122948", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2122948" } ], "reference": [ { "type": "PubMed", "id": "22162134", "url": "https://glygen.org/publication/PubMed/22162134" } ] }, { "title": "Optical tweezers studies on Notch: single-molecule interaction strength is independent of ligand endocytosis.", "journal": "Developmental cell", "date": "2012", "authors": "Shergill B, Meloty-Kapella L, Musse AA, Weinmaster G, Botvinick E", "evidence": [ { "database": "Reactome", "id": "R-HSA-2979096", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2979096" } ], "reference": [ { "type": "PubMed", "id": "22658935", "url": "https://glygen.org/publication/PubMed/22658935" } ] }, { "title": "Notch ligand endocytosis generates mechanical pulling force dependent on dynamin, epsins, and actin.", "journal": "Developmental cell", "date": "2012", "authors": "Meloty-Kapella L, Shergill B, Kuon J, Botvinick E, Weinmaster G", "evidence": [ { "database": "Reactome", "id": "R-HSA-2979096", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2979096" } ], "reference": [ { "type": "PubMed", "id": "22658936", "url": "https://glygen.org/publication/PubMed/22658936" } ] }, { "title": "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.", "journal": "Journal of proteomics", "date": "2014", "authors": "Bian Y, Song C, Cheng K, Dong M, Wang F, Huang J, Sun D, Wang L, Ye M, Zou H", "evidence": [ { "database": "UniProtKB", "id": "A8MQ27", "url": "https://www.uniprot.org/uniprot/A8MQ27" }, { "database": "iPTMnet", "id": "A8MQ27", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A8MQ27" } ], "reference": [ { "type": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ] }, { "title": "Regulated proteolysis of NOTCH2 and NOTCH3 receptors by ADAM10 and presenilins.", "journal": "Molecular and cellular biology", "date": "2014", "authors": "Groot AJ, Habets R, Yahyanejad S, Hodin CM, Reiss K, Saftig P, Theys J, Vooijs M", "evidence": [ { "database": "Reactome", "id": "R-HSA-2979096", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2979096" } ], "reference": [ { "type": "PubMed", "id": "24842903", "url": "https://glygen.org/publication/PubMed/24842903" } ] }, { "title": "EGFR blockade enriches for lung cancer stem-like cells through Notch3-dependent signaling.", "journal": "Cancer research", "date": "2014", "authors": "Arasada RR, Amann JM, Rahman MA, Huppert SS, Carbone DP", "evidence": [ { "database": "Reactome", "id": "R-HSA-9013507", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013507" } ], "reference": [ { "type": "PubMed", "id": "25125655", "url": "https://glygen.org/publication/PubMed/25125655" } ] }, { "title": "Notch3 interactome analysis identified WWP2 as a negative regulator of Notch3 signaling in ovarian cancer.", "journal": "PLoS genetics", "date": "2014", "authors": "Jung JG, Stoeck A, Guan B, Wu RC, Zhu H, Blackshaw S, Shih IeM, Wang TL", "evidence": [ { "database": "Reactome", "id": "R-HSA-9013507", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013507" } ], "reference": [ { "type": "PubMed", "id": "25356737", "url": "https://glygen.org/publication/PubMed/25356737" } ] }, { "title": "Glomerular mesangiolipidosis in Alagille syndrome (arteriohepatic dysplasia).", "journal": "Pediatric nephrology (Berlin, Germany)", "date": "1987", "authors": "Habib R, Dommergues JP, Gubler MC, Hadchouel M, Gautier M, Odievre M, Alagille D", "evidence": [ { "database": "Reactome", "id": "R-HSA-2979096", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2979096" } ], "reference": [ { "type": "PubMed", "id": "3153318", "url": "https://glygen.org/publication/PubMed/3153318" } ] }, { "title": "Extracellular arginine availability modulates eIF2\u03b1 O-GlcNAcylation and heme oxygenase 1 translation for cellular homeostasis.", "journal": "Journal of biomedical science", "date": "2023-05-22", "authors": "Hung Yu-Wen, Ouyang Ching, Ping Xiaoli, Qi Yue, Wang Yi-Chang, Kung Hsing-Jien, Ann David K", "evidence": [ { "database": "O-GlcNAc Database", "id": "A8MQ27", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=A8MQ27" } ], "reference": [ { "type": "PubMed", "id": "37217939", "url": "https://glygen.org/publication/PubMed/37217939" } ] }, { "title": "Signalling downstream of activated mammalian Notch.", "journal": "Nature", "date": "1995", "authors": "Jarriault S, Brou C, Logeat F, Schroeter EH, Kopan R, Israel A", "evidence": [ { "database": "Reactome", "id": "R-HSA-2644606", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2644606" } ], "reference": [ { "type": "PubMed", "id": "7566092", "url": "https://glygen.org/publication/PubMed/7566092" } ] }, { "title": "Disruption of the mouse RBP-J kappa gene results in early embryonic death.", "journal": "Development (Cambridge, England)", "date": "1995", "authors": "Oka C, Nakano T, Wakeham A, de la Pompa JL, Mori C, Sakai T, Okazaki S, Kawaichi M, Shiota K, Mak TW, Honjo T", "evidence": [ { "database": "Reactome", "id": "R-HSA-2644606", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2644606" } ], "reference": [ { "type": "PubMed", "id": "7588063", "url": "https://glygen.org/publication/PubMed/7588063" } ] }, { "title": "Hepatic ductular hypoplasia associated with characteristic facies, vertebral malformations, retarded physical, mental, and sexual development, and cardiac murmur.", "journal": "The Journal of pediatrics", "date": "1975", "authors": "Alagille D, Odievre M, Gautier M, Dommergues JP", "evidence": [ { "database": "Reactome", "id": "R-HSA-2979096", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2979096" } ], "reference": [ { "type": "PubMed", "id": "803282", "url": "https://glygen.org/publication/PubMed/803282" } ] }, { "title": "Asymmetric distribution of numb protein during division of the sensory organ precursor cell confers distinct fates to daughter cells.", "journal": "Cell", "date": "1994", "authors": "Rhyu MS, Jan LY, Jan YN", "evidence": [ { "database": "Reactome", "id": "R-HSA-2122948", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2122948" } ], "reference": [ { "type": "PubMed", "id": "8313469", "url": "https://glygen.org/publication/PubMed/8313469" } ] }, { "title": "Mutations in the human Jagged1 gene are responsible for Alagille syndrome.", "journal": "Nature genetics", "date": "1997", "authors": "Oda T, Elkahloun AG, Pike BL, Okajima K, Krantz ID, Genin A, Piccoli DA, Meltzer PS, Spinner NB, Collins FS, Chandrasekharappa SC", "evidence": [ { "database": "Reactome", "id": "R-HSA-2979096", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2979096" } ], "reference": [ { "type": "PubMed", "id": "9207787", "url": "https://glygen.org/publication/PubMed/9207787" } ] }, { "title": "Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1.", "journal": "Nature genetics", "date": "1997", "authors": "Li L, Krantz ID, Deng Y, Genin A, Banta AB, Collins CC, Qi M, Trask BJ, Kuo WL, Cochran J, Costa T, Pierpont ME, Rand EB, Piccoli DA, Hood L, Spinner NB", "evidence": [ { "database": "Reactome", "id": "R-HSA-2979096", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2979096" } ], "reference": [ { "type": "PubMed", "id": "9207788", "url": "https://glygen.org/publication/PubMed/9207788" } ] }, { "title": "Kuzbanian controls proteolytic processing of Notch and mediates lateral inhibition during Drosophila and vertebrate neurogenesis.", "journal": "Cell", "date": "1997", "authors": "Pan D, Rubin GM", "evidence": [ { "database": "Reactome", "id": "R-HSA-2122948", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2122948" } ], "reference": [ { "type": "PubMed", "id": "9244301", "url": "https://glygen.org/publication/PubMed/9244301" } ] }, { "title": "Isolation and functional analysis of a cDNA for human Jagged2, a gene encoding a ligand for the Notch1 receptor.", "journal": "Molecular and cellular biology", "date": "1997", "authors": "Luo B, Aster JC, Hasserjian RP, Kuo F, Sklar J", "evidence": [ { "database": "Reactome", "id": "R-HSA-2122948", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2122948" } ], "reference": [ { "type": "PubMed", "id": "9315665", "url": "https://glygen.org/publication/PubMed/9315665" } ] }, { "title": "Solution structure of midkine, a new heparin-binding growth factor.", "journal": "The EMBO journal", "date": "1997", "authors": "Iwasaki W, Nagata K, Hatanaka H, Inui T, Kimura T, Muramatsu T, Yoshida K, Tasumi M, Inagaki F", "evidence": [ { "database": "Reactome", "id": "R-HSA-2979096", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2979096" } ], "reference": [ { "type": "PubMed", "id": "9384573", "url": "https://glygen.org/publication/PubMed/9384573" } ] }, { "title": "The human homolog of rat Jagged1 expressed by marrow stroma inhibits differentiation of 32D cells through interaction with Notch1.", "journal": "Immunity", "date": "1998", "authors": "Li L, Milner LA, Deng Y, Iwata M, Banta A, Graf L, Marcovina S, Friedman C, Trask BJ, Hood L, Torok-Storb B", "evidence": [ { "database": "Reactome", "id": "R-HSA-2122948", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2122948" } ], "reference": [ { "type": "PubMed", "id": "9462510", "url": "https://glygen.org/publication/PubMed/9462510" } ] }, { "title": "Human deltex is a conserved regulator of Notch signalling.", "journal": "Nature genetics", "date": "1998", "authors": "Matsuno K, Eastman D, Mitsiades T, Quinn AM, Carcanciu ML, Ordentlich P, Kadesch T, Artavanis-Tsakonas S", "evidence": [ { "database": "Reactome", "id": "R-HSA-2122948", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2122948" } ], "reference": [ { "type": "PubMed", "id": "9590294", "url": "https://glygen.org/publication/PubMed/9590294" } ] }, { "title": "Nuclear access and action of notch in vivo.", "journal": "Cell", "date": "1998", "authors": "Struhl G, Adachi A", "evidence": [ { "database": "Reactome", "id": "R-HSA-2122948", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2122948" } ], "reference": [ { "type": "PubMed", "id": "9604939", "url": "https://glygen.org/publication/PubMed/9604939" } ] }, { "title": "Notch-1 signalling requires ligand-induced proteolytic release of intracellular domain.", "journal": "Nature", "date": "1998", "authors": "Schroeter EH, Kisslinger JA, Kopan R", "evidence": [ { "database": "Reactome", "id": "R-HSA-2122948", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2122948" } ], "reference": [ { "type": "PubMed", "id": "9620803", "url": "https://glygen.org/publication/PubMed/9620803" } ] }, { "title": "Indirect evidence for Delta-dependent intracellular processing of notch in Drosophila embryos.", "journal": "Current biology : CB", "date": "1998", "authors": "Lecourtois M, Schweisguth F", "evidence": [ { "database": "Reactome", "id": "R-HSA-2122948", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2122948" } ], "reference": [ { "type": "PubMed", "id": "9651681", "url": "https://glygen.org/publication/PubMed/9651681" } ] }, { "title": "A histone deacetylase corepressor complex regulates the Notch signal transduction pathway.", "journal": "Genes & development", "date": "1998", "authors": "Kao HY, Ordentlich P, Koyano-Nakagawa N, Tang Z, Downes M, Kintner CR, Evans RM, Kadesch T", "evidence": [ { "database": "Reactome", "id": "R-HSA-2644606", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2644606" } ], "reference": [ { "type": "PubMed", "id": "9694793", "url": "https://glygen.org/publication/PubMed/9694793" } ] }, { "title": "Delta-1 activation of notch-1 signaling results in HES-1 transactivation.", "journal": "Molecular and cellular biology", "date": "1998", "authors": "Jarriault S, Le Bail O, Hirsinger E, Pourquie O, Logeat F, Strong CF, Brou C, Seidah NG, Isra l A", "evidence": [ { "database": "Reactome", "id": "R-HSA-2122948", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2122948" } ], "reference": [ { "type": "PubMed", "id": "9819428", "url": "https://glygen.org/publication/PubMed/9819428" } ] } ], "pathway": [ { "id": "R-HSA-2122948", "name": "Activated NOTCH1 Transmits Signal to the Nucleus", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2122948", "resource": "Reactome", "description": "Activated NOTCH1 Transmits Signal to the Nucleus" }, { "id": "R-HSA-2644606", "name": "Constitutive Signaling by NOTCH1 PEST Domain Mutants", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2644606", "resource": "Reactome", "description": "Constitutive Signaling by NOTCH1 PEST Domain Mutants" }, { "id": "R-HSA-2691232", "name": "Constitutive Signaling by NOTCH1 HD Domain Mutants", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2691232", "resource": "Reactome", "description": "Constitutive Signaling by NOTCH1 HD Domain Mutants" }, { "id": "R-HSA-2894862", "name": "Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2894862", "resource": "Reactome", "description": "Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants" }, { "id": "R-HSA-2979096", "name": "NOTCH2 Activation and Transmission of Signal to the Nucleus", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2979096", "resource": "Reactome", "description": "NOTCH2 Activation and Transmission of Signal to the Nucleus" }, { "id": "R-HSA-9013507", "name": "NOTCH3 Activation and Transmission of Signal to the Nucleus", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013507", "resource": "Reactome", "description": "NOTCH3 Activation and Transmission of Signal to the Nucleus" } ], "orthologs": [ { "uniprot_canonical_ac": "C9DQJ9-1", "protein_name": "Neuralized 2", "gene_name": "Neurl1b", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MGNTVHRTLPDSSPPARLLATRPCYGPGPERRAVLGEAPRFHAQAKGKNVRLDGHSRRATRRNSFCNGVTFTQRPIRLYEQVRLRLVAVRPGWSGALRFGFTAHDPSLMSAQDIPKYACPDLVTRPGYWAKALPENLALRDTVLAYWADRHGRVFYSVNDGEPVLFHCGVAVGGPLWALIDVYGITDEVQLLESTFADTLTPLRLGQARLSACPPPGSHDAANFDNNELENNQVVAKLGHLALGRPDAAVPCVARERARPASSPALLDAELRFHATRGPDVSLSADRRLACAPRPDGGRTLVFSERPLRPGESLCVEVGRPGLAAPAAVAFGITSCDPGALRPSELPADPAALLDRKEYWVVARAGPVPSGGDALSFTLRPGGDVLLAVNGRPRGRLLCVDTSQALWAFFAVRGGVAGQLRLLGTVQSGPEATTPSGSFSGSQDDSDSDMTFGVNQSSSASESSLVTAPSSPLSPPVSPAFSAPEPAGSRNGECTVCFDSEVDTVIYTCGHMCLCHSCGLRLRRQARACCPICRRPIKDVIKIYRP", "length": 546 }, "evidence": [ { "id": "45931545", "url": "http://www.informatics.jax.org/homology/45931545", "database": "MGI" }, { "id": "A8MQ27", "url": "https://omabrowser.org/oma/group/A8MQ27/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q0MW30-1", "protein_name": "E3 ubiquitin-protein ligase NEURL1B", "gene_name": "Neurl1b", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MGNTVHRTLPDSSPPARLLATRPCYGPGPERRAVLGEAPRFHAQAKGKNVRLDGHSRRATRRNSFCNGVTFTQRPIRLYEQVRLRLVAVRPGWSGALRFGFTAHDPSLMSAQDIPKYACPDLVTRPGYWAKALPENLALRDTVLAYWADRHGRVFYSVNDGEPVLFHCGVAVGGPLWALIDVYGITDEVQLLESTFADTLTPLRLGQARLSACPPPGSHDAANFDNNELENNQVVAKLGHLALGRPDAAVPCVARERPRPASSPALLDAELRFHATRGPDVSLSADRRLACAPRPDGGRTLVFSERPLRPGESLCVEVGRPGLAAPAAVAFGITSCDPGALRPSELPADPAALLDRKEYWVVARAGPVPSGGDALSFTLRPGGDVLLAVNGRPRGRLLCVDTSQALWAFFAVRGGVAGQLRLLGTLQSSSETMTPSGSFSGSQDDSDSDMTFGVNQSSSASESSLVTAPSSPLSPPVSPAFSAPEPTGSRNGECTVCFDSEVDTVIYTCGHMCLCHGCGLRLRRQARACCPICRRPIKDVIKIYRP", "length": 546 }, "evidence": [ { "id": "45931545", "url": "http://www.informatics.jax.org/homology/45931545", "database": "MGI" }, { "id": "A8MQ27", "url": "https://omabrowser.org/oma/group/A8MQ27/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 3, "go_terms": [ { "name": "early endosome", "id": "GO:0005769", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005769", "evidence": [ { "database": "UniProtKB", "id": "A8MQ27", "url": "https://www.uniprot.org/uniprot/A8MQ27" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "A8MQ27", "url": "https://www.uniprot.org/uniprot/A8MQ27" } ], "pmid": "" }, { "name": "actin cytoskeleton", "id": "GO:0015629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015629", "evidence": [ { "database": "UniProtKB", "id": "A8MQ27", "url": "https://www.uniprot.org/uniprot/A8MQ27" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 3, "go_terms": [ { "name": "Notch signaling pathway", "id": "GO:0007219", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007219", "evidence": [ { "database": "UniProtKB", "id": "A8MQ27", "url": "https://www.uniprot.org/uniprot/A8MQ27" } ], "pmid": "" }, { "name": "protein ubiquitination", "id": "GO:0016567", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016567", "evidence": [ { "database": "UniProtKB", "id": "A8MQ27", "url": "https://www.uniprot.org/uniprot/A8MQ27" } ], "pmid": "" }, { "name": "ubiquitin-dependent endocytosis", "id": "GO:0070086", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070086", "evidence": [ { "database": "UniProtKB", "id": "A8MQ27", "url": "https://www.uniprot.org/uniprot/A8MQ27" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 2, "go_terms": [ { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "A8MQ27", "url": "https://www.uniprot.org/uniprot/A8MQ27" } ], "pmid": "" }, { "name": "ubiquitin protein ligase activity", "id": "GO:0061630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061630", "evidence": [ { "database": "UniProtKB", "id": "A8MQ27", "url": "https://www.uniprot.org/uniprot/A8MQ27" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 464, "end_pos": 466, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "R-HSA-1980074", "name": "Ubiquitination of DLL/JAG ligands upon binding to NOTCH1", "equation": "", "summary": "NOTCH ligands DLL1, DLL4, JAG1 and JAG2 undergo ubiquitination and endocytosis after binding NOTCH1 in trans. In Drosophila, ubiquitination of Delta and Serrate ligands is performed by either Mindbomb or Neuralized ubiquitin ligase. In mammals, there are two Mindbomb homologues, MIB1 and MIB2 and two Neuralized homologues, NEURL (also known as NEUR1) and NEURL1B (also known as NEUR2). Although both Mib1 and Mib2 ubiquitinate Delta (Koo et al. 2005), only Mib1 was shown to be essential for normal development in mice, with Mib1 deficient mice exhibiting typical Notch deficiency phenotypes (Koo et al. 2007). This could be due to different expression patterns of Mib1 and Mib2. While Mib1 is abundantly expressed in embryos and adult tissues, Mib2 expression is limited to adult tissues only (Koo et al. 2005). Mouse Neurl was directly shown to ubiquitinate Jag1 but not other Notch ligands in vitro. N-terminal myristoylation targets Neurl to the plasma membrane and this is a prerequisite for Jag1 internalization (Koutelou et al. 2008). Mouse Neurl1b was shown to directly bind and ubiquitinate recombinant Xenopus Delta and to cooperate with Mib1 in Delta endocytosis (Song et al. 2006). Ubiquitination of NOTCH ligands by MIB and NEURL ubiquitin ligases triggers ligand endocytosis. Drosophila Neuralized needs to interact with membrane phosphoinositides through its phosphoinositide-binding motif to trigger endocytosis of ubiquitinated Delta (Skwarek et al. 2007). Endocytosis of ubiquitinated Notch ligands is thought to mechanically stretch the ligand-bound Notch receptor, exposing the S2 cleavage site and resulting in Notch receptor cleavage by ADAM10 and/or ADAM17 metalloproteases (Itoh et al. 2003).", "cellular_location": "cytosol, plasma membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q96AX9-1", "A8MQ27-1", "O76050-1", "Q86YT6-1" ], "evidence": [ { "id": "R-HSA-1980074", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1980074" } ] }, { "id": "R-HSA-2172172", "name": "Ubiquitination of DLL/JAG ligands upon binding to NOTCH2", "equation": "", "summary": "NOTCH ligands DLL1, DLL4, JAG1 and JAG2 undergo ubiquitination and endocytosis after binding NOTCH2 in trans. Integrity of the intracellular domain of DLL1 was shown to be essential for the successful release of NOTCH2 intracellular domain, NICD2, in response to DLL1 binding (Shimizu et al. 2002). In Drosophila, ubiquitination of Delta and Serrate ligands is performed by either Mindbomb or Neuralized ubiquitin ligase. In mammals, there are two Mindbomb homologues, MIB1 and MIB2 and two Neuralized homologues, NEURL (also known as NEUR1) and NEURL1B (also known as NEUR2). Although both Mib1 and Mib2 ubiquitinate Delta (Koo et al. 2005), only Mib1 was shown to be essential for normal development in mice, with Mib1 deficient mice exhibiting typical Notch deficiency phenotypes (Koo et al. 2007). This could be due to different expression patterns of Mib1 and Mib2. While Mib1 is abundantly expressed in embryos and adult tissues, Mib2 expression is limited to adult tissues only (Koo et al. 2005). Mouse Neurl was directly shown to ubiquitinate Jag1 but not other Notch ligands in vitro. N-terminal myristoylation targets Neurl to the plasma membrane and this is a prerequisite for Jag1 internalization (Koutelou et al. 2008). Mouse Neurl1b was shown to directly bind and ubiquitinate recombinant Xenopus Delta and to cooperate with Mib1 in Delta endocytosis (Song et al. 2006). Ubiquitination of NOTCH ligands by MIB and NEURL ubiquitin ligases triggers ligand endocytosis. Drosophila Neuralized needs to interact with membrane phosphoinositides through its phosphoinositide-binding motif to trigger endocytosis of ubiquitinated Delta (Skwarek et al. 2007). The pulling force model states that the endocytosis of ubiquitinated Notch ligands mechanically pulls the ligand-bound Notch receptor, exposing the S2 cleavage site and resulting in Notch receptor cleavage by ADAM10 and/or ADAM17 metalloproteases (Itoh et al. 2003). Using a cell-bead optical tweezers system to measure rupture force specific for cells expressing Dll1 bound to laser trapped Notch1 beads, it was shown that the mechanical force required for the activation of Notch signaling depends on ligand ubiquitination and subsequent clathrin-mediated endocytosis that involves dynamin, epsins and actin (Meloty-Kapella et al. 2012). Ligand endocytosis and recycling does not directly influence Dll1 and Notch1 interaction, except that it regulates the amount of ligand on the cell surface that is available to activate Notch (Shergill et al. 2012).", "cellular_location": "cytosol, plasma membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q96AX9-1", "A8MQ27-1", "O76050-1", "Q86YT6-1" ], "evidence": [ { "id": "R-HSA-2172172", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2172172" } ] }, { "id": "R-HSA-2737728", "name": "Ubiquitination of DLL/JAG ligands upon binding to NOTCH1 HD domain mutants", "equation": "", "summary": "Ubiquitination of DLL/JAG ligands upon binding to NOTCH1 HD domain mutants has not been investigated but is assumed to occur based on the behavior of the wild-type NOTCH1 (Lai et al. 2001, Itoh et al. 2003, Koo et al. 2005, Lai et al. 2005, Le Borgne et al. 2005, Pistouli et al. 2005, Song et al. 2006, Koo et al. 2007, Koutelou et al. 2008).", "cellular_location": "cytosol, plasma membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q96AX9-1", "A8MQ27-1", "O76050-1", "Q86YT6-1" ], "evidence": [ { "id": "R-HSA-2737728", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2737728" } ] }, { "id": "R-HSA-2769007", "name": "Ubiquitination of DLL/JAG ligands upon binding to NOTCH1 PEST domain mutants", "equation": "", "summary": "Ubiquitination of DLL/JAG ligands upon binding to NOTCH1 PEST domain mutants has not been investigated but is assumed to occur based on the behavior of the wild-type NOTCH1 (Lai et al. 2001, Itoh et al. 2003, Koo et al. 2005, Lai et al. 2005, Le Borgne et al. 2005, Pistouli et al. 2005, Song et al. 2006, Koo et al. 2007, Koutelou et al. 2008).", "cellular_location": "cytosol, plasma membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q96AX9-1", "A8MQ27-1", "O76050-1", "Q86YT6-1" ], "evidence": [ { "id": "R-HSA-2769007", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2769007" } ] }, { "id": "R-HSA-2900765", "name": "Ubiquitination of DLL/JAG ligands upon binding to NOTCH1 HD+PEST domain mutants", "equation": "", "summary": "Ubiquitination of DLL/JAG ligands upon binding to NOTCH1 HD+PEST domain mutants has not been investigated but is assumed to occur based on the behavior of the wild-type NOTCH1 (Lai et al. 2001, Itoh et al. 2003, Koo et al. 2005, Lai et al. 2005, Le Borgne et al. 2005, Pistouli et al. 2005, Song et al. 2006, Koo et al. 2007, Koutelou et al. 2008).", "cellular_location": "cytosol, plasma membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q96AX9-1", "A8MQ27-1", "O76050-1", "Q86YT6-1" ], "evidence": [ { "id": "R-HSA-2900765", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2900765" } ] }, { "id": "R-HSA-9013069", "name": "Ubiquitination of DLL/JAG ligands upon binding to NOTCH3", "equation": "", "summary": "Based on an analogy with NOTCH1 and NOTCH2, and on studies of Drosophila Notch, NOTCH ligands DLL1, DLL4, JAG1 and JAG2 are assumed to undergo ubiquitination and endocytosis after binding to NOTCH3 in trans. Ubiquitination of DLL/JAG ligands in mammals is performed by orthologues of Drosophila Mindbomb, MIB1, possibly MIB2, and possibly orthologues of Drosophila Neuralized, NEURL and NEURL1B.", "cellular_location": "plasma membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q96AX9-1", "A8MQ27-1", "O76050-1", "Q86YT6-1" ], "evidence": [ { "id": "R-HSA-9013069", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013069" } ] } ], "reaction_participants": [], "reaction_enzymes": [ { "uniprot_ac": "A8MQ27", "gene_name": "NEURL1B", "activity": [ { "ec_number": "2.3.2.27", "activity": "S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.", "evidence": [ { "id": "A8MQ27", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A8MQ27" } ] }, { "ec_number": "2.3.2.27", "activity": "", "evidence": [ { "id": "A8MQ27", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A8MQ27" } ] } ] }, { "uniprot_ac": "O76050", "gene_name": "NEURL1", "activity": [ { "ec_number": "2.3.2.27", "activity": "S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.", "evidence": [ { "id": "O76050", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O76050" } ] }, { "ec_number": "2.3.2.27", "activity": "", "evidence": [ { "id": "O76050", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O76050" } ] } ] }, { "uniprot_ac": "Q86YT6", "gene_name": "MIB1", "activity": [ { "ec_number": "2.3.2.27", "activity": "S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.", "evidence": [ { "id": "Q86YT6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q86YT6" } ] }, { "ec_number": "2.3.2.27", "activity": "", "evidence": [ { "id": "Q86YT6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q86YT6" } ] } ] }, { "uniprot_ac": "Q96AX9", "gene_name": "MIB2", "activity": [ { "ec_number": "2.3.2.27", "activity": "S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.", "evidence": [ { "id": "Q96AX9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q96AX9" } ] }, { "ec_number": "2.3.2.27", "activity": "", "evidence": [ { "id": "Q96AX9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q96AX9" } ] } ] } ], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [], "snv_sites": [], "glycation_sites": [], "phosphorylation_sites": [ 13, 199 ], "sequon_annotation_sites": [ { "start_pos": 464, "end_pos": 466 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 93 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }