{ "uniprot_canonical_ac": "O95905-1", "uniprot_ac": "O95905", "uniprot_id": "ECD_HUMAN", "mass": { "chemical_mass": 72758.0, "monoisotopic_mass": 72758.0 }, "refseq": { "ac": "NP_001129224", "name": "protein ecdysoneless homolog isoform 2", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129224" }, "gene_names": [ { "name": "ECD", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O95905", "id": "O95905" }, { "name": "ECD", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129224", "id": "NP_001129224" }, { "name": "GCR2; HSGT1; SGT1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129224", "id": "NP_001129224" } ], "protein_names": [ { "name": "Protein ecdysoneless homolog", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O95905" }, { "name": "Human suppressor of GCR two", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95905" }, { "name": "hSGT1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95905" }, { "name": "protein ecdysoneless homolog isoform 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129224", "id": "NP_001129224" }, { "name": "suppressor of S. cerevisiae gcr2; ecdysoneless homolog; protein SGT1; human suppressor of GCR two; suppressor of GCR2; protein ecdysoneless homolog", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129224", "id": "NP_001129224" } ], "function": [ { "annotation": "ECD promotes gastric cancer cell invasion and metastasis by preventing E3 ligase ZFP91-mediated hnRNP F ubiquitination and degradation. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001129224", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129224" }, { "database": "PubMed", "id": "29706618", "url": "https://glygen.org/publication/PubMed/29706618" } ] }, { "annotation": "Ecdysoneless Overexpression Drives Mammary Tumorigenesis through Upregulation of C-MYC and Glucose Metabolism.", "evidence": [ { "database": "RefSeq", "id": "NP_001129224", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129224" }, { "database": "PubMed", "id": "35675041", "url": "https://glygen.org/publication/PubMed/35675041" } ] }, { "annotation": "Observational study of gene-disease association. (HuGE Navigator)", "evidence": [ { "database": "RefSeq", "id": "NP_001129224", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129224" }, { "database": "PubMed", "id": "16385451", "url": "https://glygen.org/publication/PubMed/16385451" } ] }, { "annotation": "Regulator of p53/TP53 stability and function. Inhibits MDM2-mediated degradation of p53/TP53 possibly by cooperating in part with TXNIP (PubMed:16849563, PubMed:23880345). May be involved transcriptional regulation. In vitro has intrinsic transactivation activity enhanced by EP300. May be a transcriptional activator required for the expression of glycolytic genes (PubMed:19919181, PubMed:9928932). Involved in regulation of cell cycle progression. Proposed to disrupt Rb-E2F binding leading to transcriptional activation of E2F proteins (PubMed:19640839). The cell cycle -regulating function may depend on its RUVBL1-mediated association with the R2TP complex (PubMed:26711270). May play a role in regulation of pre-mRNA splicing (PubMed:24722212).", "evidence": [ { "database": "UniProtKB", "id": "O95905", "url": "https://www.uniprot.org/uniprot/O95905#function" }, { "database": "PubMed", "id": "23880345", "url": "https://glygen.org/publication/PubMed/23880345" }, { "database": "PubMed", "id": "24722212", "url": "https://glygen.org/publication/PubMed/24722212" }, { "database": "PubMed", "id": "9928932", "url": "https://glygen.org/publication/PubMed/9928932" }, { "database": "PubMed", "id": "19919181", "url": "https://glygen.org/publication/PubMed/19919181" }, { "database": "PubMed", "id": "19640839", "url": "https://glygen.org/publication/PubMed/19640839" }, { "database": "PubMed", "id": "16849563", "url": "https://glygen.org/publication/PubMed/16849563" }, { "database": "PubMed", "id": "26711270", "url": "https://glygen.org/publication/PubMed/26711270" } ] }, { "annotation": "The interaction of ECD with RUVBL1, and its CK2-mediated phosphorylation, independent of its interaction with PIH1D1, are important for its cell cycle regulatory function. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001129224", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129224" }, { "database": "PubMed", "id": "26711270", "url": "https://glygen.org/publication/PubMed/26711270" } ] } ], "disease": [], "snv": [], "mutagenesis": [ { "start_pos": 481, "end_pos": 481, "sequence_org": "I", "sequence_mut": "A", "comment": "Decreases transactivation activity.", "evidence": [ { "database": "UniProtKB", "id": "O95905", "url": "https://www.uniprot.org/uniprot/O95905" }, { "database": "PubMed", "id": "19919181", "url": "https://glygen.org/publication/PubMed/19919181" } ] }, { "start_pos": 484, "end_pos": 484, "sequence_org": "D", "sequence_mut": "F", "comment": "Decreases transactivation activity.", "evidence": [ { "database": "UniProtKB", "id": "O95905", "url": "https://www.uniprot.org/uniprot/O95905" }, { "database": "PubMed", "id": "19919181", "url": "https://glygen.org/publication/PubMed/19919181" } ] }, { "start_pos": 489, "end_pos": 489, "sequence_org": "L", "sequence_mut": "A", "comment": "Decreases transactivation activity.", "evidence": [ { "database": "UniProtKB", "id": "O95905", "url": "https://www.uniprot.org/uniprot/O95905" }, { "database": "PubMed", "id": "19919181", "url": "https://glygen.org/publication/PubMed/19919181" } ] }, { "start_pos": 503, "end_pos": 503, "sequence_org": "S", "sequence_mut": "A", "comment": "Greatly impairs in vitro phosphorylation by CK2 and impairs cell cycle regulation activity; when associated with A-505, A-518, A-572, A-579 and A-584.", "evidence": [ { "database": "UniProtKB", "id": "O95905", "url": "https://www.uniprot.org/uniprot/O95905" }, { "database": "PubMed", "id": "26711270", "url": "https://glygen.org/publication/PubMed/26711270" } ] }, { "start_pos": 505, "end_pos": 505, "sequence_org": "S", "sequence_mut": "A", "comment": "Greatly impairs in vitro phosphorylation by CK2 and impairs cell cycle regulation activity; when associated with A-503, A-518, A-572, A-579 and A-584.", "evidence": [ { "database": "UniProtKB", "id": "O95905", "url": "https://www.uniprot.org/uniprot/O95905" }, { "database": "PubMed", "id": "26711270", "url": "https://glygen.org/publication/PubMed/26711270" } ] }, { "start_pos": 510, "end_pos": 510, "sequence_org": "D", "sequence_mut": "R", "comment": "Increases transactivation activity.", "evidence": [ { "database": "UniProtKB", "id": "O95905", "url": "https://www.uniprot.org/uniprot/O95905" }, { "database": "PubMed", "id": "19919181", "url": "https://glygen.org/publication/PubMed/19919181" } ] }, { "start_pos": 512, "end_pos": 512, "sequence_org": "D", "sequence_mut": "R", "comment": "Increases transactivation activity.", "evidence": [ { "database": "UniProtKB", "id": "O95905", "url": "https://www.uniprot.org/uniprot/O95905" }, { "database": "PubMed", "id": "19919181", "url": "https://glygen.org/publication/PubMed/19919181" } ] }, { "start_pos": 518, "end_pos": 518, "sequence_org": "S", "sequence_mut": "A", "comment": "Greatly impairs in vitro phosphorylation by CK2 and impairs cell cycle regulation activity; when associated with A-503, A-505, A-572, A-579 and A-584.", "evidence": [ { "database": "UniProtKB", "id": "O95905", "url": "https://www.uniprot.org/uniprot/O95905" }, { "database": "PubMed", "id": "26711270", "url": "https://glygen.org/publication/PubMed/26711270" } ] }, { "start_pos": 520, "end_pos": 520, "sequence_org": "D", "sequence_mut": "P", "comment": "Increases transactivation activity.", "evidence": [ { "database": "UniProtKB", "id": "O95905", "url": "https://www.uniprot.org/uniprot/O95905" }, { "database": "PubMed", "id": "19919181", "url": "https://glygen.org/publication/PubMed/19919181" } ] }, { "start_pos": 572, "end_pos": 572, "sequence_org": "S", "sequence_mut": "A", "comment": "Greatly impairs in vitro phosphorylation by CK2 and impairs cell cycle regulation activity; when associated with A-503, A-505, A-518, A-579 and A-584.", "evidence": [ { "database": "UniProtKB", "id": "O95905", "url": "https://www.uniprot.org/uniprot/O95905" }, { "database": "PubMed", "id": "26711270", "url": "https://glygen.org/publication/PubMed/26711270" } ] }, { "start_pos": 579, "end_pos": 579, "sequence_org": "S", "sequence_mut": "A", "comment": "Greatly impairs in vitro phosphorylation by CK2 and impairs cell cycle regulation activity; when associated with A-503, A-505, A-518, A-572 and A-584.", "evidence": [ { "database": "UniProtKB", "id": "O95905", "url": "https://www.uniprot.org/uniprot/O95905" }, { "database": "PubMed", "id": "26711270", "url": "https://glygen.org/publication/PubMed/26711270" } ] }, { "start_pos": 584, "end_pos": 584, "sequence_org": "S", "sequence_mut": "A", "comment": "Greatly impairs in vitro phosphorylation by CK2 and impairs cell cycle regulation activity; when associated with A-503, A-505, A-518, A-572 and A-579.", "evidence": [ { "database": "UniProtKB", "id": "O95905", "url": "https://www.uniprot.org/uniprot/O95905" }, { "database": "PubMed", "id": "26711270", "url": "https://glygen.org/publication/PubMed/26711270" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "81.62", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000122882", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000122882" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "82.32", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000122882", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000122882" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "82.94", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000122882", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000122882" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "68.25", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000122882", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000122882" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "87.03", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000122882", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000122882" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "87.31", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000122882", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000122882" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "76.09", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000122882", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000122882" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "83.78", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000122882", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000122882" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "84.6", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000122882", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000122882" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "75.38", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000122882", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000122882" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "84.99", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000122882", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000122882" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "86.53", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000122882", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000122882" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "86.73", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000122882", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000122882" } ] } ], "expression_disease": [ { "significant": "No", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O95905", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95905" } ], "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", 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"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 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"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 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"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, 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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": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O95905", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95905" } ], "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", 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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", 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"https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O95905", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95905" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. 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"" }, { "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": 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"id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine 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"MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "O95905", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95905" } ], "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 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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": "O95905", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95905" } ], "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", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95905" } ], "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": "O95905", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95905" } ], "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", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95905" } ], "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": "O95905", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95905" } ], "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is 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"https://www.uniprot.org/uniprot/O95905", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95905-1", "url": "https://www.uniprot.org/uniprot/O95905-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95905-2", "url": "https://www.uniprot.org/uniprot/O95905-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95905-3", "url": "https://www.uniprot.org/uniprot/O95905-3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "S4R458", "url": "https://www.uniprot.org/uniprot/S4R458", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "S4R458-1", "url": "https://www.uniprot.org/uniprot/S4R458-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MEETMKLATMEDTVEYCLFLIPDESRDSDKHKEILQKYIERIITRFAPMLVPYIWQNQPFNLKYKPGKGGVPAHMFGVTKFGDNIEDEWFIVYVIKQITKEFPELVARIEDNDGEFLLIEAADFLPKWLDPENSTNRVFFCHGELCIIPAPRKSGAESWLPTTPPTIPQALNIITAHSEKILASESIRAAVNRRIRGYPEKIQASLHRAHCFLPAGIVAVLKQRPRLVAAAVQAFYLRDPIDLRACRVFKTFLPETRIMTSVTFTKCLYAQLVQQRFVPDRRSGYRLPPPSDPQYRAHELGMKLAHGFEILCSKCSPHFSDCKKSLVTASPLWASFLESLKKNDYFKGLIEGSAQYRERLEMAENYFQLSVDWPESSLAMSPGEEILTLLQTIPFDIEDLKKEAANLPPEDDDQWLDLSPDQLDQLLQEAVGKKESESVSKEEKEQNYDLTEVSESMKAFISKVSTHKGAELPREPSEAPITFDADSFLNYFDKILGPRPNESDSDDLDDEDFECLDSDDDLDFETHEPGEEASLKGTLDNLKSYMAQMDQELAHTCISKSFTTRNQVEPVSQTTDNNSDEEDSGTGESVMAPVDVDLNLVSNILESYSSQAGLAGPASNLLQSMGVQLPDNTDHRPTSKPTKN", "length": 644, "header": "sp|O95905-1|ECD_HUMAN Isoform 1 of Protein ecdysoneless homolog OS=Homo sapiens OX=9606 GN=ECD PE=1 SV=1 CANONICAL=O95905-1" }, "isoforms": [ { "isoform_ac": "C9J316-1", "url": "", "sequence": { "sequence": "MFGVTKFGDNIEDEWFIVYVIKQITKEFPELVARIEDNDGEFLLIEAADFLPKWLDPENSTNRVFFCHGELCIIPAPRKSGAESWLPTTPPTIPQALNIITAHSEKILASESIRAAVNRRIRGYPEKIQASLHRAHCFLPAGIVAVLKQRPRLVAAAVQAFYLRDPIDLRACRVFKTFLPETRIMTSVTFTKCLYAQLVQQRFVPDRRSGYR", "length": 212, "header": "tr|C9J316-1|C9J316_HUMAN Computationally mapped isoform of Ecdysoneless cell cycle regulator OS=Homo sapiens OX=9606 GN=ECD PE=1 SV=1 CANONICAL=O95905-1" }, "locus": { "chromosome": "10", "start_pos": 73160534, "end_pos": 73152347, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000453402.5", "url": "https://www.ensembl.org/id/ENST00000453402.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000391367.1", "url": "https://www.ensembl.org/id/ENSP00000391367.1" } ] } }, { "isoform_ac": "C9JGV1-1", "url": "", "sequence": { "sequence": "MEETMKLATMEDTVEYCLFLIPDESRDSDKHKEILQKYIERIITRFAPMLVPYIWQNQPFNLKYKPGKGGVPAHMFGVTKFGDNIEDEWFIVYVIKQITKEFPELVASTNRVFFCHGELCIIPAPRKSGAESWLPTTPPTIPQALNIITAHSEKILASESIRAAVNRRIRGYPEKIQASLHRAHCFLPAGIVAVLKQRPRLVAAAVQAFYLRDPIDL", "length": 217, "header": "tr|C9JGV1-1|C9JGV1_HUMAN Computationally mapped isoform of Ecdysoneless cell cycle regulator OS=Homo sapiens OX=9606 GN=ECD PE=1 SV=1 CANONICAL=O95905-1" }, "locus": { "chromosome": "10", "start_pos": 73163937, "end_pos": 73154310, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000413026.1", "url": "https://www.ensembl.org/id/ENST00000413026.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000416288.1", "url": "https://www.ensembl.org/id/ENSP00000416288.1" } ] } }, { "isoform_ac": "F2Z2R1-1", "url": "", "sequence": { "sequence": "MFGVTKFGDNIEDEWFIVYVIKQITKEFPELVARIEDNDGEFLLIEAADFLPKWLDPENSTNRVFFCHGELCIIPAPRKSGAESWLPTTPPTIPQALNIITAHSEKILASESIRAAVNRRIRGSHSLNVYMHNWCNKGLCQTGGVDTGCLLHLIPSTEPMNWA", "length": 163, "header": "tr|F2Z2R1-1|F2Z2R1_HUMAN Computationally mapped isoform of Ecdysoneless cell cycle regulator OS=Homo sapiens OX=9606 GN=ECD PE=1 SV=1 CANONICAL=O95905-1" }, "locus": { "chromosome": "10", "start_pos": 73160534, "end_pos": 73152301, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000484976.6", "url": "https://www.ensembl.org/id/ENST00000484976.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000433778.1", "url": "https://www.ensembl.org/id/ENSP00000433778.1" } ] } }, { "isoform_ac": "O95905-1", "url": "", "sequence": { "sequence": "MEETMKLATMEDTVEYCLFLIPDESRDSDKHKEILQKYIERIITRFAPMLVPYIWQNQPFNLKYKPGKGGVPAHMFGVTKFGDNIEDEWFIVYVIKQITKEFPELVARIEDNDGEFLLIEAADFLPKWLDPENSTNRVFFCHGELCIIPAPRKSGAESWLPTTPPTIPQALNIITAHSEKILASESIRAAVNRRIRGYPEKIQASLHRAHCFLPAGIVAVLKQRPRLVAAAVQAFYLRDPIDLRACRVFKTFLPETRIMTSVTFTKCLYAQLVQQRFVPDRRSGYRLPPPSDPQYRAHELGMKLAHGFEILCSKCSPHFSDCKKSLVTASPLWASFLESLKKNDYFKGLIEGSAQYRERLEMAENYFQLSVDWPESSLAMSPGEEILTLLQTIPFDIEDLKKEAANLPPEDDDQWLDLSPDQLDQLLQEAVGKKESESVSKEEKEQNYDLTEVSESMKAFISKVSTHKGAELPREPSEAPITFDADSFLNYFDKILGPRPNESDSDDLDDEDFECLDSDDDLDFETHEPGEEASLKGTLDNLKSYMAQMDQELAHTCISKSFTTRNQVEPVSQTTDNNSDEEDSGTGESVMAPVDVDLNLVSNILESYSSQAGLAGPASNLLQSMGVQLPDNTDHRPTSKPTKN", "length": 644, "header": "sp|O95905-1|ECD_HUMAN Isoform 1 of Protein ecdysoneless homolog OS=Homo sapiens OX=9606 GN=ECD PE=1 SV=1 CANONICAL=O95905-1" }, "locus": { "chromosome": "10", "start_pos": 73163937, "end_pos": 73134586, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000372979.9", "url": "https://www.ensembl.org/id/ENST00000372979.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000362070.4", "url": "https://www.ensembl.org/id/ENSP00000362070.4" } ] } }, { "isoform_ac": "O95905-2", "url": "", "sequence": { "sequence": "MEETMKLATMEDTVEYCLFLIPDESRDSDKHKEILQKYIERIITRFAPMLVPYIWQNQPFNLKYKPGKGGVPAHMFGVTKFGDNIEDEWFIVYVIKQITKEFPELVARIEDNDGEFLLIEAADFLPKWLDPENSTNRVFFCHGELCIIPAPRKSGAESWLPTTPPTIPQALNIITAHSEKILASESIRAAVNRRIRGYPEKIQASLHRAHCFLPAGIVAVLKQRPRLVAAAVQAFYLRDPIDLRACRVFKTFLPETRIMTSAHGFEILCSKCSPHFSDCKKSLVTASPLWASFLESLKKNDYFKGLIEGSAQYRERLEMAENYFQLSVDWPESSLAMSPGEEILTLLQTIPFDIEDLKKEAANLPPEDDDQWLDLSPDQLDQLLQEAVGKKESESVSKEEKEQNYDLTEVSESMKAFISKVSTHKGAELPREPSEAPITFDADSFLNYFDKILGPRPNESDSDDLDDEDFECLDSDDDLDFETHEPGEEASLKGTLDNLKSYMAQMDQELAHTCISKSFTTRNQVEPVSQTTDNNSDEEDSGTGESVMAPVDVDLNLVSNILESYSSQAGLAGPASNLLQSMGVQLPDNTDHRPTSKPTKN", "length": 601, "header": "sp|O95905-2|ECD_HUMAN Isoform 2 of Protein ecdysoneless homolog OS=Homo sapiens OX=9606 GN=ECD PE=1 SV=1 CANONICAL=O95905-1" }, "locus": { "chromosome": "10", "start_pos": 73163937, "end_pos": 73134586, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000454759.6", "url": "https://www.ensembl.org/id/ENST00000454759.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000395786.1", "url": "https://www.ensembl.org/id/ENSP00000395786.1" } ] } }, { "isoform_ac": "O95905-3", "url": "", "sequence": { "sequence": "MEETMKLATMEDTVEYCLFLIPDESRDSDKHKEILQKYIERIITRFAPMLVPYIWQNQPFNLKYKPGKGGVPAHMFGVTKFGDNIEDEWFIVYVIKQITKEFPELVARIEDNDGEFLLIEAADFLPKWLDPENSTNRVFFCHGELCIIPAPRKSGAESWLPTTPPTIPQALNIITAHSEKILASESIRAAVNRRIRGYPEKIQASLHRAHCFLPAGIVAVLKQRPRLVAAAVQAFYLRDPIDLRACRVFKTFLPETRIMTSVTFTKCLYAQLVQQRFVPDRRSGYRLPPPSDPQYRAHELGMKLAHGFEILCSKCSPHFSDCKKSLVTASPLWASFLESLKKNDYFKGLIEGSAQYRERLEMAENYFQLSVDWPERLEVQWRDPGLLQAPPPGFTPFICLSLLSTWDNSSLAMSPGEEILTLLQTIPFDIEDLKKEAANLPPEDDDQWLDLSPDQLDQLLQEAVGKKESESVSKEEKEQNYDLTEVSESMKAFISKVSTHKGAELPREPSEAPITFDADSFLNYFDKILGPRPNESDSDDLDDEDFECLDSDDDLDFETHEPGEEASLKGTLDNLKSYMAQMDQELAHTCISKSFTTRNQVEPVSQTTDNNSDEEDSGTGESVMAPVDVDLNLVSNILESYSSQAGLAGPASNLLQSMGVQLPDNTDHRPTSKPTKN", "length": 677, "header": "sp|O95905-3|ECD_HUMAN Isoform 3 of Protein ecdysoneless homolog OS=Homo sapiens OX=9606 GN=ECD PE=1 SV=1 CANONICAL=O95905-1" }, "locus": { "chromosome": "10", "start_pos": 73163937, "end_pos": 73134586, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000430082.6", "url": "https://www.ensembl.org/id/ENST00000430082.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000401566.1", "url": "https://www.ensembl.org/id/ENSP00000401566.1" } ] } }, { "isoform_ac": "S4R458-1", "url": "", "sequence": { "sequence": "XSVMAPVDVDLNLVSNILESYSSQAGLAGPASNLLQSMGVQLPDNTDHRPTNGVSLCCPGWSAVALSWLNASSTSQVHAILLPQPPE", "length": 87, "header": "tr|S4R458-1|S4R458_HUMAN Computationally mapped isoform of Ecdysoneless cell cycle regulator OS=Homo sapiens OX=9606 GN=ECD PE=1 SV=1 CANONICAL=O95905-1" }, "locus": { "chromosome": "10", "start_pos": 73134754, "end_pos": 73130351, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000494307.1", "url": "https://www.ensembl.org/id/ENST00000494307.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000475102.1", "url": "https://www.ensembl.org/id/ENSP00000475102.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "O95905", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O95905" }, { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" } ] } ], "phosphorylation": [ { "start_pos": 162, "end_pos": 162, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O95905", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95905" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr162" }, { "start_pos": 16, "end_pos": 16, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O95905", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95905" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Tyr16" }, { "start_pos": 186, "end_pos": 186, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O95905", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95905" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser186" }, { "start_pos": 325, "end_pos": 325, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O95905", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95905" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser325" }, { "start_pos": 335, "end_pos": 335, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O95905", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95905" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser335" }, { "start_pos": 339, "end_pos": 339, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O95905", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95905" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser339" }, { "start_pos": 503, "end_pos": 503, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O95905", "url": "https://www.uniprot.org/uniprot/O95905" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "iPTMnet", "id": "O95905", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95905" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "database": "phospho.ELM", "id": "O95905", "url": "http://phospho.elm.eu.org/byAccession/O95905.html" } ], "site_lbl": "Ser503" }, { "start_pos": 505, "end_pos": 505, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O95905", "url": "https://www.uniprot.org/uniprot/O95905" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "iPTMnet", "id": "O95905", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95905" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "database": "phospho.ELM", "id": "O95905", "url": "http://phospho.elm.eu.org/byAccession/O95905.html" } ], "site_lbl": "Ser505" }, { "start_pos": 518, "end_pos": 518, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O95905", "url": "https://www.uniprot.org/uniprot/O95905" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "iPTMnet", "id": "O95905", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95905" }, { "database": "phospho.ELM", "id": "O95905", "url": "http://phospho.elm.eu.org/byAccession/O95905.html" } ], "site_lbl": "Ser518" }, { "start_pos": 534, "end_pos": 534, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O95905", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95905" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "phospho.ELM", "id": "O95905", "url": "http://phospho.elm.eu.org/byAccession/O95905.html" } ], "site_lbl": "Ser534" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23.", "journal": "Am. J. Hum. Genet.", "date": "2001", "authors": "Bork JM, Peters LM, Riazuddin S, Bernstein SL, Ahmed ZM, Ness SL, Polomeno R, Ramesh A, Schloss M, Srisailpathy CR, Wayne S, Bellman S, Desmukh D, Ahmed Z, Khan SN, Kaloustian VM, Li XC, Lalwani A, Riazuddin S, Bitner-Glindzicz M, Nance WE, Liu XZ, Wistow G, Smith RJ, Griffith AJ, Wilcox ER, Friedman TB, Morell RJ", "evidence": [ { "database": "UniProtKB", "id": "O95905", "url": "https://www.uniprot.org/uniprot/O95905" } ], "reference": [ { "type": "PubMed", "id": "11090341", "url": "https://glygen.org/publication/PubMed/11090341" } ] }, { "title": "A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.", "journal": "American journal of human genetics", "date": "2006", "authors": "Grupe A, Li Y, Rowland C, Nowotny P, Hinrichs AL, Smemo S, Kauwe JS, Maxwell TJ, Cherny S, Doil L, Tacey K, van Luchene R, Myers A, Wavrant-De Vrieze F, Kaleem M, Hollingworth P, Jehu L, Foy C, Archer N, Hamilton G, Holmans P, Morris CM, Catanese J, Sninsky J, White TJ, Powell J, Hardy J, O'Donovan M, Lovestone S, Jones L, Morris JC, Thal L, Owen M, Williams J, Goate A", "evidence": [ { "database": "RefSeq", "id": "NP_001129224", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129224" } ], "reference": [ { "type": "PubMed", "id": "16385451", "url": "https://glygen.org/publication/PubMed/16385451" } ] }, { "title": "The human orthologue of Drosophila ecdysoneless protein interacts with p53 and regulates its function.", "journal": "Cancer research", "date": "2006-07-15", "authors": "Zhang Ying, Chen Jianming, Gurumurthy Channabasavaiah B, Kim Junhyun, Bhat Ishfaq, Gao Qingshen, Dimri Goberdhan, Lee Sam W, Band Hamid, Band Vimla", "evidence": [ { "database": "UniProtKB", "id": "O95905", "url": "https://www.uniprot.org/uniprot/O95905" } ], "reference": [ { "type": "PubMed", "id": "16849563", "url": "https://glygen.org/publication/PubMed/16849563" } ] }, { "title": "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.", "journal": "Cell", "date": "2006", "authors": "Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M", "evidence": [ { "database": "UniProtKB", "id": "O95905", "url": "https://www.uniprot.org/uniprot/O95905" }, { "database": "iPTMnet", "id": "O95905-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95905-1" } ], "reference": [ { "type": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "O95905", "url": "https://www.uniprot.org/uniprot/O95905" }, { "database": "iPTMnet", "id": "O95905-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95905-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Role of mammalian Ecdysoneless in cell cycle regulation.", "journal": "The Journal of biological chemistry", "date": "2009", "authors": "Kim JH, Gurumurthy CB, Naramura M, Zhang Y, Dudley AT, Doglio L, Band H, Band V", "evidence": [ { "database": "UniProtKB", "id": "O95905", "url": "https://www.uniprot.org/uniprot/O95905" } ], "reference": [ { "type": "PubMed", "id": "19640839", "url": "https://glygen.org/publication/PubMed/19640839" } ] }, { "title": "Biochemical characterization of human Ecdysoneless reveals a role in transcriptional regulation.", "journal": "Biological chemistry", "date": "2010", "authors": "Kim JH, Gurumurthy CB, Band H, Band V", "evidence": [ { "database": "UniProtKB", "id": "O95905", "url": "https://www.uniprot.org/uniprot/O95905" } ], "reference": [ { "type": "PubMed", "id": "19919181", "url": "https://glygen.org/publication/PubMed/19919181" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "iPTMnet", "id": "O95905-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95905-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "Overexpression of a novel cell cycle regulator ecdysoneless in breast cancer: a marker of poor prognosis in HER2/neu-overexpressing breast cancer patients.", "journal": "Breast Cancer Res. Treat.", "date": "2012", "authors": "Zhao Xiangshan, Mirza Sameer, Alshareeda Alaa, Zhang Ying, Gurumurthy Channabasavaiah Basavaraju, Bele Aditya, Kim Jun Hyun, Mohibi Shakur, Goswami Monica, Lele Subodh M, West William, Qiu Fang, Ellis Ian O, Rakha Emad A, Green Andrew R, Band Hamid, Band Vimla", "evidence": [ { "database": "UniProtKB", "id": "O95905", "url": "https://www.uniprot.org/uniprot/O95905" } ], "reference": [ { "type": "PubMed", "id": "22270930", "url": "https://glygen.org/publication/PubMed/22270930" } ] }, { "title": "Overexpression of ecdysoneless in pancreatic cancer and its role in oncogenesis by regulating glycolysis.", "journal": "Clin. Cancer Res.", "date": "2012", "authors": "Dey Parama, Rachagani Satyanarayana, Chakraborty Subhankar, Singh Pankaj K, Zhao Xiangshan, Gurumurthy Channabasavaiah Basavaraju, Anderson Judy M, Lele Subodh, Hollingsworth Michael A, Band Vimla, Batra Surinder K", "evidence": [ { "database": "UniProtKB", "id": "O95905", "url": "https://www.uniprot.org/uniprot/O95905" } ], "reference": [ { "type": "PubMed", "id": "22977192", "url": "https://glygen.org/publication/PubMed/22977192" } ] }, { "title": "Proteome wide purification and identification of O-GlcNAc-modified proteins using click chemistry and mass spectrometry.", "journal": "Journal of proteome research", "date": "2013", "authors": "Hahne H, Sobotzki N, Nyberg T, Helm D, Borodkin VS, van Aalten DM, Agnew B, Kuster B", "evidence": [ { "database": "O-GlcNAc Database", "id": "O95905", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O95905" } ], "reference": [ { "type": "PubMed", "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498" } ] }, { "title": "TXNIP interacts with hEcd to increase p53 stability and activity.", "journal": "Biochemical and biophysical research communications", "date": "2013", "authors": "Suh HW, Yun S, Song H, Jung H, Park YJ, Kim TD, Yoon SR, Choi I", "evidence": [ { "database": "UniProtKB", "id": "O95905", "url": "https://www.uniprot.org/uniprot/O95905" } ], "reference": [ { "type": "PubMed", "id": "23880345", "url": "https://glygen.org/publication/PubMed/23880345" } ] }, { "title": "Phosphorylation-dependent PIH1D1 interactions define substrate specificity of the R2TP cochaperone complex.", "journal": "Cell Rep.", "date": "2014", "authors": "Horejsi Z, Stach L, Flower TG, Joshi D, Flynn H, Skehel JM, O'Reilly NJ, Ogrodowicz RW, Smerdon SJ, Boulton SJ", "evidence": [ { "database": "UniProtKB", "id": "O95905", "url": "https://www.uniprot.org/uniprot/O95905" } ], "reference": [ { "type": "PubMed", "id": "24656813", "url": "https://glygen.org/publication/PubMed/24656813" } ] }, { "title": "Unexpected role of the steroid-deficiency protein ecdysoneless in pre-mRNA splicing.", "journal": "PLoS genetics", "date": "2014-04", "authors": "Claudius Ann-Katrin, Romani Patrizia, Lamkemeyer Tobias, Jindra Marek, Uhlirova Mirka", "evidence": [ { "database": "UniProtKB", "id": "O95905", "url": "https://www.uniprot.org/uniprot/O95905" } ], "reference": [ { "type": "PubMed", "id": "24722212", "url": "https://glygen.org/publication/PubMed/24722212" } ] }, { "title": "A Novel Interaction of Ecdysoneless (ECD) Protein with R2TP Complex Component RUVBL1 Is Required for the Functional Role of ECD in Cell Cycle Progression.", "journal": "Molecular and cellular biology", "date": "2015", "authors": "Mir RA, Bele A, Mirza S, Srivastava S, Olou AA, Ammons SA, Kim JH, Gurumurthy CB, Qiu F, Band H, Band V", "evidence": [ { "database": "UniProtKB", "id": "O95905", "url": "https://www.uniprot.org/uniprot/O95905" }, { "database": "RefSeq", "id": "NP_001129224", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129224" } ], "reference": [ { "type": "PubMed", "id": "26711270", "url": "https://glygen.org/publication/PubMed/26711270" } ] }, { "title": "ECD promotes gastric cancer metastasis by blocking E3 ligase ZFP91-mediated hnRNP F ubiquitination and degradation.", "journal": "Cell death & disease", "date": "2018", "authors": "Xu SH, Zhu S, Wang Y, Huang JZ, Chen M, Wu QX, He YT, Chen, Yan GR", "evidence": [ { "database": "RefSeq", "id": "NP_001129224", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129224" } ], "reference": [ { "type": "PubMed", "id": "29706618", "url": "https://glygen.org/publication/PubMed/29706618" } ] }, { "title": "Ecdysoneless Overexpression Drives Mammary Tumorigenesis through Upregulation of C-MYC and Glucose Metabolism.", "journal": "Molecular cancer research : MCR", "date": "2022", "authors": "Mohapatra BC, Mirza S, Bele A, Gurumurthy CB, Raza M, Saleem I, Storck MD, Sarkar A, Kollala SS, Shukla SK, Southekal S, Wagner KU, Qiu F, Lele SM, Alsaleem MA, Rakha EA, Guda C, Singh PK, Cardiff RD, Band H, Band V", "evidence": [ { "database": "RefSeq", "id": "NP_001129224", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129224" } ], "reference": [ { "type": "PubMed", "id": "35675041", "url": "https://glygen.org/publication/PubMed/35675041" } ] }, { "title": "A human gene, hSGT1, can substitute for GCR2, which encodes a general regulatory factor of glycolytic gene expression in Saccharomyces cerevisiae.", "journal": "Molecular & general genetics : MGG", "date": "1999-01", "authors": "Sato T, Jigami Y, Suzuki T, Uemura H", "evidence": [ { "database": "UniProtKB", "id": "O95905", "url": "https://www.uniprot.org/uniprot/O95905" } ], "reference": [ { "type": "PubMed", "id": "9928932", "url": "https://glygen.org/publication/PubMed/9928932" } ] } ], "pathway": [ { "id": "hsa:11319", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:11319", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "D3ZA55-1", "protein_name": "Ecdysoneless cell cycle regulator", "gene_name": "Ecd", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MEGKGRLAMVEDAVEYHLFLIPDEARDTDGHRESLQKYIEQIMTQFAPILVPYIWQNQPFNLKYKPAKGGVPAHMYGMTKFGDNIEDEWFIVYIIKQITKTFPELVARIEDNDGEFLLIEAADFLPKWLDPDNSANRVFFHRGELCIIPVPRKSERIPWLPTTPPTIQQALSIISAHPEAILASESVQAAVDRRISGYPEKIGASLHRAHCFLPAGIVAVLKQRPRLVSAAVQAFYLRDPIDLRACRVFKTFLPETRIMASVTFTKCLYAQLVQQKFVPDRRSGYGLPPPSHPRYRAHELGMKLAHGFEILCSKCSPHFSDSRKSLVTASPLWASFLESLRRNDYFKGLMEGSAQYQERLEMAKNYFQLSIHRPESSLAMSPGEEILTLLETLPFDIAELKTEEADLPPEDDDQWLDLSPDQLDQLLQDAAGRKVSQPGPQKEEQQNCDVGQVSDSMKAFISKVSTHKGAELPRDPSEAPITFDADSFLNYFDKILGTKPQESDSDDQDEDDLECLDSDDDLGLEAQESESLKGALGSLKSYMAQMDQELAHTCMGKSFSTRKQLDPPSQTANDNSDEEDSGAGDCTVEAVDVDLNLVSNILESYSSQAGLAGPASNLLHSMGVRLPDNADHHSSQ", "length": 636 }, "evidence": [ { "id": "45929863", "url": "http://www.informatics.jax.org/homology/45929863", "database": "MGI" }, { "id": "O95905", "url": "https://omabrowser.org/oma/group/O95905/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q9CS74-1", "protein_name": "Protein ecdysoneless homolog", "gene_name": "Ecd", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MEGSGKLAMVEDAVEYHLFLIPDKARGTEEHREILQKYIERIMTQFAPILVPYIWQNQPFNLKYKPAKGGVPAHMYGMTKFGDNIEDEWFIVYVIKQITKEFPELVARVEDNDGEFLLIEAADFLPKWLDPDNSANRVFFHHGELCIIPVPRKSERIPWLPMTPPTIQQALSIISAHPEAVLASESIQAAVDRRVSGYPERVEASLHRAHCFLPAGIVAVLKQQPRLLSAAVQAFYLRDPIDLRACRVFKTFLPETRIMASVTFTKCLYAQLVQQKFVPDRRSGYGLPPPSHPQYRAYELGMKLAHGFEILCSKCSPHFSDSRKSLVTASPLWASFLESLKRNDYFKGLMDGSAQYQERLEMAKNYFQLSIHRPESSLAMSPGEEILTVLQTQPFDVAELKTEEADLPPEDDDQWLDLSPDQLDQLLQDAAGRKESQPGPQKEELQNYDVAQVSDSMKAFISKVSSHKGAELPRDPSEAPITFDADSFLNYFDKILGAKPQESDSEDDPGEEDVEGVDSDDDVGFEAQESESLKGALGSLKSYMARMDQELAHTSMGRSFTTRERLNKDPPSHTANDNSDEEDSGAGDCAVEAVDVDLNLISNILESYSSQAGLAGPASNLLHSMGVRLPDNADHNPQVSQ", "length": 641 }, "evidence": [ { "id": "45929863", 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