{ "uniprot_canonical_ac": "O75691-1", "uniprot_ac": "O75691", "uniprot_id": "UTP20_HUMAN", "mass": { "chemical_mass": 318385.0, "monoisotopic_mass": 318385.0 }, "refseq": { "ac": "NP_055318", "name": "small subunit processome component 20 homolog", "summary": "UTP20 is a component of the U3 small nucleolar RNA (snoRNA) (SNORD3A; MIM 180710) protein complex (U3 snoRNP) and is involved in 18S rRNA processing (Wang et al., 2007 [PubMed 17498821]).[supplied by OMIM, Jun 2009].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055318" }, "gene_names": [ { "name": "UTP20", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O75691", "id": "O75691" }, { "name": "1A6/DRIM; DRIM", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055318", "id": "NP_055318" }, { "name": "DRIM", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75691", "id": "O75691" }, { "name": "UTP20", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055318", "id": "NP_055318" } ], "protein_names": [ { "name": "Small subunit processome component 20 homolog", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O75691" }, { "name": "Down-regulated in metastasis protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75691" }, { "name": "NNP73", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75691" }, { "name": "Novel nucleolar protein 73", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75691" }, { "name": "Protein Key-1A6", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75691" }, { "name": "down regulated in metastasis; NNP73; novel nucleolar protein 73; down-regulated in metastasis protein; UTP20, small subunit (SSU) processome component, homolog; UTP20 small subunit (SSU) processome component", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055318", "id": "NP_055318" }, { "name": "small subunit processome component 20 homolog", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055318", "id": "NP_055318" } ], "function": [ { "annotation": "1A6/DRIM activates Pol I transcription most likely by associating with both hALP and UBF and thereby affecting the acetylation of UBF Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_055318", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055318" }, { "database": "PubMed", "id": "21151873", "url": "https://glygen.org/publication/PubMed/21151873" } ] }, { "annotation": "Part of the small subunit (SSU) processome, first precursor of the small eukaryotic ribosomal subunit. During the assembly of the SSU processome in the nucleolus, many ribosome biogenesis factors, an RNA chaperone and ribosomal proteins associate with the nascent pre-rRNA and work in concert to generate RNA folding, modifications, rearrangements and cleavage as well as targeted degradation of pre-ribosomal RNA by the RNA exosome. Involved in 18S pre-rRNA processing. Associates with U3 snoRNA.", "evidence": [ { "database": "UniProtKB", "id": "O75691", "url": "https://www.uniprot.org/uniprot/O75691#function" }, { "database": "PubMed", "id": "17498821", "url": "https://glygen.org/publication/PubMed/17498821" }, { "database": "PubMed", "id": "34516797", "url": "https://glygen.org/publication/PubMed/34516797" } ] }, { "annotation": "UTP20 is a component of the U3 small nucleolar RNA (snoRNA) (SNORD3A; MIM 180710) protein complex (U3 snoRNP) and is involved in 18S rRNA processing (Wang et al., 2007 [PubMed 17498821]).[supplied by OMIM, Jun 2009].", "evidence": [ { "database": "RefSeq", "id": "NP_055318", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055318" } ] } ], "disease": [], "snv": [], "mutagenesis": [ { "start_pos": 2744, "end_pos": 2744, "sequence_org": "K", "sequence_mut": "A", "comment": "Does not decrease nucleolar localization.", "evidence": [ { "database": "UniProtKB", "id": "O75691", "url": "https://www.uniprot.org/uniprot/O75691" }, { "database": "PubMed", "id": "16458307", "url": "https://glygen.org/publication/PubMed/16458307" } ] }, { "start_pos": 2744, "end_pos": 2746, "sequence_org": "KKK", "sequence_mut": "AAA", "comment": "Inhibits nucleolar but not nuclear localization.", "evidence": [ { "database": "UniProtKB", "id": "O75691", "url": "https://www.uniprot.org/uniprot/O75691" }, { "database": "PubMed", "id": "16458307", "url": "https://glygen.org/publication/PubMed/16458307" } ] }, { "start_pos": 2745, "end_pos": 2745, "sequence_org": "K", "sequence_mut": "A", "comment": "Does not decrease nucleolar localization.", "evidence": [ { "database": "UniProtKB", "id": "O75691", "url": "https://www.uniprot.org/uniprot/O75691" }, { "database": "PubMed", "id": "16458307", "url": "https://glygen.org/publication/PubMed/16458307" } ] }, { "start_pos": 2746, "end_pos": 2746, "sequence_org": "K", "sequence_mut": "A", "comment": "Decreases nucleolar localization.", "evidence": [ { "database": "UniProtKB", "id": "O75691", "url": "https://www.uniprot.org/uniprot/O75691" }, { "database": "PubMed", "id": "16458307", "url": "https://glygen.org/publication/PubMed/16458307" } ] }, { "start_pos": 2748, "end_pos": 2748, "sequence_org": "K", "sequence_mut": "A", "comment": "Does not decrease nucleolar localization.", "evidence": [ { "database": "UniProtKB", "id": "O75691", "url": "https://www.uniprot.org/uniprot/O75691" }, { "database": "PubMed", "id": "16458307", "url": "https://glygen.org/publication/PubMed/16458307" } ] }, { "start_pos": 2748, "end_pos": 2749, "sequence_org": "KK", "sequence_mut": "AA", "comment": "Inhibits nucleolar but not nuclear localization.", "evidence": [ { "database": "UniProtKB", "id": "O75691", "url": "https://www.uniprot.org/uniprot/O75691" }, { "database": "PubMed", "id": "16458307", "url": "https://glygen.org/publication/PubMed/16458307" } ] }, { "start_pos": 2749, "end_pos": 2749, "sequence_org": "K", "sequence_mut": "A", "comment": "Decreases nucleolar localization.", "evidence": [ { "database": "UniProtKB", "id": "O75691", "url": "https://www.uniprot.org/uniprot/O75691" }, { "database": "PubMed", "id": "16458307", "url": "https://glygen.org/publication/PubMed/16458307" } ] }, { "start_pos": 2751, "end_pos": 2751, "sequence_org": "K", "sequence_mut": "A", "comment": "Does not decrease nucleolar localization.", "evidence": [ { "database": "UniProtKB", "id": "O75691", "url": "https://www.uniprot.org/uniprot/O75691" }, { "database": "PubMed", "id": "16458307", "url": "https://glygen.org/publication/PubMed/16458307" } ] }, { "start_pos": 2753, "end_pos": 2753, "sequence_org": "K", "sequence_mut": "A", "comment": "Does not decrease nucleolar localization.", "evidence": [ { "database": "UniProtKB", "id": "O75691", "url": "https://www.uniprot.org/uniprot/O75691" }, { "database": "PubMed", "id": "16458307", "url": "https://glygen.org/publication/PubMed/16458307" } ] }, { "start_pos": 2757, "end_pos": 2757, "sequence_org": "K", "sequence_mut": "A", "comment": "Does not decrease nucleolar localization.", "evidence": [ { "database": "UniProtKB", "id": "O75691", "url": "https://www.uniprot.org/uniprot/O75691" }, { "database": "PubMed", "id": "16458307", "url": "https://glygen.org/publication/PubMed/16458307" } ] }, { "start_pos": 2757, "end_pos": 2760, "sequence_org": "KKRK", "sequence_mut": "AAAA", "comment": "Inhibits nucleolar localization and decreases nuclear localization.", "evidence": [ { "database": "UniProtKB", "id": "O75691", "url": "https://www.uniprot.org/uniprot/O75691" }, { "database": "PubMed", "id": "16458307", "url": "https://glygen.org/publication/PubMed/16458307" } ] }, { "start_pos": 2758, "end_pos": 2758, "sequence_org": "K", "sequence_mut": "A", "comment": "Does not decrease nucleolar localization.", "evidence": [ { "database": "UniProtKB", "id": "O75691", "url": "https://www.uniprot.org/uniprot/O75691" }, { "database": "PubMed", "id": "16458307", "url": "https://glygen.org/publication/PubMed/16458307" } ] }, { "start_pos": 2760, "end_pos": 2760, "sequence_org": "K", "sequence_mut": "A", "comment": "Does not decrease nucleolar localization.", "evidence": [ { "database": "UniProtKB", "id": "O75691", "url": "https://www.uniprot.org/uniprot/O75691" }, { "database": "PubMed", "id": "16458307", "url": "https://glygen.org/publication/PubMed/16458307" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "69.6", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000120800", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000120800" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "69.38", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000120800", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000120800" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "64.86", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000120800", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000120800" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "49.96", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000120800", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000120800" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "78.38", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000120800", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000120800" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "77.68", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000120800", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000120800" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "47.76", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000120800", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000120800" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "71.34", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000120800", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000120800" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "73.81", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000120800", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000120800" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "47.6", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000120800", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000120800" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "73.91", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000120800", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000120800" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "74.43", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000120800", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000120800" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "77.26", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000120800", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000120800" } ] } ], "expression_disease": [ { "significant": "No", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O75691", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75691" } ], "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": "Yes", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O75691", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75691" } ], "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": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O75691", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75691" } ], "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": "No", "trend": "down", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O75691", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75691" } ], "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": "Yes", "trend": "up", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "O75691", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75691" } ], "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": "No", "trend": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "O75691", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75691" } ], "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": "No", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O75691", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75691" } ], "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": "O75691", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75691" } ], "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": "O75691", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75691" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "O75691", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75691" } ], "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": "O75691", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75691" } ], "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": "up", "name": "Colorectal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:9256", "evidence": [ { "database": "BioXpress", "id": "O75691", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75691" } ], "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": "O75691", "url": "https://www.uniprot.org/uniprot/O75691" } ], "common_name": "Human" } ], "gene": [ { "name": "UTP20", "url": "https://www.uniprot.org/uniprot/O75691", "locus": { "chromosome": "12", "start_pos": 101386618, "end_pos": 101280105, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000120800", "url": "https://www.ensembl.org/id/ENSG00000120800" } ] } } ], "crossref": [ { "id": "ENSG00000120800", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000120800", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "UTP20", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=UTP20", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "27340", "url": "https://www.ncbi.nlm.nih.gov/gene/27340", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "17897", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=17897", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "O75691", "url": "https://www.ebi.ac.uk/intact/interactors/id:O75691*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR011430", "url": "https://www.ebi.ac.uk/interpro/entry/IPR011430", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR016024", "url": "https://www.ebi.ac.uk/interpro/entry/IPR016024", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR046523", "url": "https://www.ebi.ac.uk/interpro/entry/IPR046523", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:27340", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:27340", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "612822", "url": "http://www.omim.org/entry/612822", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O75691", "url": "https://www.nextprot.org/entry/NX_O75691", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "O75691", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75691", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "CFYMLRH", "url": "https://omabrowser.org/oma/group/CFYMLRH/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "5482709at2759", "url": "http://www.orthodb.org/?query=5482709at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR17695", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR17695", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR17695:SF11", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR17695:SF11", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "7MQ8", "url": "https://www.rcsb.org/structure/7MQ8", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7MQ9", "url": "https://www.rcsb.org/structure/7MQ9", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7MQA", "url": "https://www.rcsb.org/structure/7MQA", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF07539", "url": "http://pfam.xfam.org/family/PF07539", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF20416", "url": "http://pfam.xfam.org/family/PF20416", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O75691", "url": "https://pharos.nih.gov/targets/O75691", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O75691", "url": "http://purl.obolibrary.org/obo/PR_O75691", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-6790901", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6790901", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-6791226", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6791226", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_055318", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055318", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "O75691", "url": "https://www.uniprot.org/uniprot/O75691", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75691-1", "url": "https://www.uniprot.org/uniprot/O75691-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MKTKPVSHKTENTYRFLTFAERLGNVNIDIIHRIDRTASYEEEVETYFFEGLLKWRELNLTEHFGKFYKEVIDKCQSFNQLVYHQNEIVQSLKTHLQVKNSFAYQPLLDLVVQLARDLQMDFYPHFPEFFLTITSILETQDTELLEWAFTSLSYLYKYLWRLMVKDMSSIYSMYSTLLAHKKLHIRNFAAESFTFLMRKVSDKNALFNLMFLDLDKHPEKVEGVGQLLFEMCKGVRNMFHSCTGQAVKLILRKLGPVTETETQLPWMLIGETLKNMVKSTVSYISKEHFGTFFECLQESLLDLHTKVTKTNCCESSEQIKRLLETYLILVKHGSGTKIPTPADVCKVLSQTLQVASLSTSCWETLLDVISALILGENVSLPETLIKETIEKIFESRFEKRLIFSFSEVMFAMKQFEQLFLPSFLSYIVNCFLIDDAVVKDEALAILAKLILNKAAPPTAGSMAIEKYPLVFSPQMVGFYIKQKKTRSKGRNEQFPVLDHLLSIIKLPPNKDTTYLSQSWAALVVLPHIRPLEKEKVIPLVTGFIEALFMTVDKGSFGKGNLFVLCQAVNTLLSLEESSELLHLVPVERVKNLVLTFPLEPSVLLLTDLYYQRLALCGCKGPLSQEALMELFPKLQANISTGVSKIRLLTIRILNHFDVQLPESMEDDGLSERQSVFAILRQAELVPATVNDYREKLLHLRKLRHDVVQTAVPDGPLQEVPLRYLLGMLYINFSALWDPVIELISSHAHEMENKQFWKVYYEHLEKAATHAEKELQNDMTDEKSVGDESWEQTQEGDVGALYHEQLALKTDCQERLDHTNFRFLLWRALTKFPERVEPRSRELSPLFLRFINNEYYPADLQVAPTQDLRRKGKGMVAEEIEEEPAAGDDEELEEEAVPQDESSQKKKTRRAAAKQLIAHLQVFSKFSNPRALYLESKLYELYLQLLLHQDQMVQKITLDCIMTYKHPHVLPYRENLQRLLEDRSFKEEIVHFSISEDNAVVKTAHRADLFPILMRILYGRMKNKTGSKTQGKSASGTRMAIVLRFLAGTQPEEIQIFLDLLFEPVRHFKNGECHSAVIQAVEDLDLSKVLPLGRQHGILNSLEIVLKNISHLISAYLPKILQILLCMTATVSHILDQREKIQLRFINPLKNLRRLGIKMVTDIFLDWESYQFRTEEIDAVFHGAVWPQISRLGSESQYSPTPLLKLISIWSRNARYFPLLAKQKPGHPECDILTNVFAILSAKNLSDATASIVMDIVDDLLNLPDFEPTETVLNLLVTGCVYPGIAENIGESITIGGRLILPHVPAILQYLSKTTISAEKVKKKKNRAQVSKELGILSKISKFMKDKEQSSVLITLLLPFLHRGNIAEDTEVDILVTVQNLLKHCVDPTSFLKPIAKLFSVIKNKLSRKLLCTVFETLSDFESGLKYITDVVKLNAFDQRHLDDINFDVRFETFQTITSYIKEMQIVDVNYLIPVMHNCFYNLELGDMSLSDNASMCLMSIIKKLAALNVTEKDYREIIHRSLLEKLRKGLKSQTESIQQDYTTILSCLIQTFPNQLEFKDLVQLTHYHDPEMDFFENMKHIQIHRRARALKKLAKQLMEGKVVLSSKSLQNYIMPYAMTPIFDEKMLKHENITTAATEIIGAICKHLSWSAYMYYLKHFIHVLQTGQINQKLGVSLLVIVLEAFHFDHKTLEEQMGKIENEENAIEAIELPEPEAMELERVDEEEKEYTCKSLSDNGQPGTPDPADSGGTSAKESECITKPVSFLPQNKEEIERTIKNIQGTITGDILPRLHKCLASTTKREEEHKLVKSKVVNDEEVVRVPLAFAMVKLMQSLPQEVMEANLPSILLKVCALLKNRAQEIRDIARSTLAKIIEDLGVHFLLYVLKELQTTLVRGYQVHVLTFTVHMLLQGLTNKLQVGDLDSCLDIMIEIFNHELFGAVAEEKEVKQILSKVMEARRSKSYDSYEILGKFVGKDQVTKLILPLKEILQNTTSLKLARKVHETLRRITVGLIVNQEMTAESILLLSYGLISENLPLLTEKEKNPVAPAPDPRLPPQSCLLLPPTPVRGGQKAVVSRKTNMHIFIESGLRLLHLSLKTSKIKSSGECVLEMLDPFVSLLIDCLGSMDVKVITGALQCLIWVLRFPLPSIETKAEQLTKHLFLLLKDYAKLGAARGQNFHLVVNCFKCVTILVKKVKSYQITEKQLQVLLAYAEEDIYDTSRQATAFGLLKAILSRKLLVPEIDEVMRKVSKLAVSAQSEPARVQCRQVFLKYILDYPLGDKLRPNLEFMLAQLNYEHETGRESTLEMIAYLFDTFPQGLLHENCGMFFIPLCLMTINDDSATCKKMASMTIKSLLGKISLEKKDWLFDMVTTWFGAKKRLNRQLAALICGLFVESEGVDFEKRLGTVLPVIEKEIDPENFKDIMEETEEKAADRLLFSFLTLITKLIKECNIIQFTKPAETLSKIWSHVHSHLRHPHNWVWLTAAQIFGLLFASCQPEELIQKWNTKKTKKHLPEPVAIKFLASDLDQKMKSISLASCHQLHSKFLDQSLGEQVVKNLLFAAKVLYLLELYCEDKQSKIKEDLEEQEALEDGVACADEKAESDGEEKEEVKEELGRPATLLWLIQKLSRIAKLEAAYSPRNPLKRTCIFKFLGAVAMDLGIDKVKPYLPMIIAPLFRELNSTYSEQDPLLKNLSQEIIELLKKLVGLESFSLAFASVQKQANEKRALRKKRKALEFVTNPDIAAKKKMKKHKNKSEAKKRKIEFLRPGYKAKRQKSHSLKDLAMVE", "length": 2785, "header": "sp|O75691-1|UTP20_HUMAN Isoform 1 of Small subunit processome component 20 homolog OS=Homo sapiens OX=9606 GN=UTP20 PE=1 SV=3 CANONICAL=O75691-1" }, "isoforms": [ { "isoform_ac": "O75691-1", "url": "", "sequence": { "sequence": "MKTKPVSHKTENTYRFLTFAERLGNVNIDIIHRIDRTASYEEEVETYFFEGLLKWRELNLTEHFGKFYKEVIDKCQSFNQLVYHQNEIVQSLKTHLQVKNSFAYQPLLDLVVQLARDLQMDFYPHFPEFFLTITSILETQDTELLEWAFTSLSYLYKYLWRLMVKDMSSIYSMYSTLLAHKKLHIRNFAAESFTFLMRKVSDKNALFNLMFLDLDKHPEKVEGVGQLLFEMCKGVRNMFHSCTGQAVKLILRKLGPVTETETQLPWMLIGETLKNMVKSTVSYISKEHFGTFFECLQESLLDLHTKVTKTNCCESSEQIKRLLETYLILVKHGSGTKIPTPADVCKVLSQTLQVASLSTSCWETLLDVISALILGENVSLPETLIKETIEKIFESRFEKRLIFSFSEVMFAMKQFEQLFLPSFLSYIVNCFLIDDAVVKDEALAILAKLILNKAAPPTAGSMAIEKYPLVFSPQMVGFYIKQKKTRSKGRNEQFPVLDHLLSIIKLPPNKDTTYLSQSWAALVVLPHIRPLEKEKVIPLVTGFIEALFMTVDKGSFGKGNLFVLCQAVNTLLSLEESSELLHLVPVERVKNLVLTFPLEPSVLLLTDLYYQRLALCGCKGPLSQEALMELFPKLQANISTGVSKIRLLTIRILNHFDVQLPESMEDDGLSERQSVFAILRQAELVPATVNDYREKLLHLRKLRHDVVQTAVPDGPLQEVPLRYLLGMLYINFSALWDPVIELISSHAHEMENKQFWKVYYEHLEKAATHAEKELQNDMTDEKSVGDESWEQTQEGDVGALYHEQLALKTDCQERLDHTNFRFLLWRALTKFPERVEPRSRELSPLFLRFINNEYYPADLQVAPTQDLRRKGKGMVAEEIEEEPAAGDDEELEEEAVPQDESSQKKKTRRAAAKQLIAHLQVFSKFSNPRALYLESKLYELYLQLLLHQDQMVQKITLDCIMTYKHPHVLPYRENLQRLLEDRSFKEEIVHFSISEDNAVVKTAHRADLFPILMRILYGRMKNKTGSKTQGKSASGTRMAIVLRFLAGTQPEEIQIFLDLLFEPVRHFKNGECHSAVIQAVEDLDLSKVLPLGRQHGILNSLEIVLKNISHLISAYLPKILQILLCMTATVSHILDQREKIQLRFINPLKNLRRLGIKMVTDIFLDWESYQFRTEEIDAVFHGAVWPQISRLGSESQYSPTPLLKLISIWSRNARYFPLLAKQKPGHPECDILTNVFAILSAKNLSDATASIVMDIVDDLLNLPDFEPTETVLNLLVTGCVYPGIAENIGESITIGGRLILPHVPAILQYLSKTTISAEKVKKKKNRAQVSKELGILSKISKFMKDKEQSSVLITLLLPFLHRGNIAEDTEVDILVTVQNLLKHCVDPTSFLKPIAKLFSVIKNKLSRKLLCTVFETLSDFESGLKYITDVVKLNAFDQRHLDDINFDVRFETFQTITSYIKEMQIVDVNYLIPVMHNCFYNLELGDMSLSDNASMCLMSIIKKLAALNVTEKDYREIIHRSLLEKLRKGLKSQTESIQQDYTTILSCLIQTFPNQLEFKDLVQLTHYHDPEMDFFENMKHIQIHRRARALKKLAKQLMEGKVVLSSKSLQNYIMPYAMTPIFDEKMLKHENITTAATEIIGAICKHLSWSAYMYYLKHFIHVLQTGQINQKLGVSLLVIVLEAFHFDHKTLEEQMGKIENEENAIEAIELPEPEAMELERVDEEEKEYTCKSLSDNGQPGTPDPADSGGTSAKESECITKPVSFLPQNKEEIERTIKNIQGTITGDILPRLHKCLASTTKREEEHKLVKSKVVNDEEVVRVPLAFAMVKLMQSLPQEVMEANLPSILLKVCALLKNRAQEIRDIARSTLAKIIEDLGVHFLLYVLKELQTTLVRGYQVHVLTFTVHMLLQGLTNKLQVGDLDSCLDIMIEIFNHELFGAVAEEKEVKQILSKVMEARRSKSYDSYEILGKFVGKDQVTKLILPLKEILQNTTSLKLARKVHETLRRITVGLIVNQEMTAESILLLSYGLISENLPLLTEKEKNPVAPAPDPRLPPQSCLLLPPTPVRGGQKAVVSRKTNMHIFIESGLRLLHLSLKTSKIKSSGECVLEMLDPFVSLLIDCLGSMDVKVITGALQCLIWVLRFPLPSIETKAEQLTKHLFLLLKDYAKLGAARGQNFHLVVNCFKCVTILVKKVKSYQITEKQLQVLLAYAEEDIYDTSRQATAFGLLKAILSRKLLVPEIDEVMRKVSKLAVSAQSEPARVQCRQVFLKYILDYPLGDKLRPNLEFMLAQLNYEHETGRESTLEMIAYLFDTFPQGLLHENCGMFFIPLCLMTINDDSATCKKMASMTIKSLLGKISLEKKDWLFDMVTTWFGAKKRLNRQLAALICGLFVESEGVDFEKRLGTVLPVIEKEIDPENFKDIMEETEEKAADRLLFSFLTLITKLIKECNIIQFTKPAETLSKIWSHVHSHLRHPHNWVWLTAAQIFGLLFASCQPEELIQKWNTKKTKKHLPEPVAIKFLASDLDQKMKSISLASCHQLHSKFLDQSLGEQVVKNLLFAAKVLYLLELYCEDKQSKIKEDLEEQEALEDGVACADEKAESDGEEKEEVKEELGRPATLLWLIQKLSRIAKLEAAYSPRNPLKRTCIFKFLGAVAMDLGIDKVKPYLPMIIAPLFRELNSTYSEQDPLLKNLSQEIIELLKKLVGLESFSLAFASVQKQANEKRALRKKRKALEFVTNPDIAAKKKMKKHKNKSEAKKRKIEFLRPGYKAKRQKSHSLKDLAMVE", "length": 2785, "header": "sp|O75691-1|UTP20_HUMAN Isoform 1 of Small subunit processome component 20 homolog OS=Homo sapiens OX=9606 GN=UTP20 PE=1 SV=3 CANONICAL=O75691-1" }, "locus": { "chromosome": "12", "start_pos": 101386120, "end_pos": 101280283, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000261637.5", "url": "https://www.ensembl.org/id/ENST00000261637.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000261637.4", "url": "https://www.ensembl.org/id/ENSP00000261637.4" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "O75691", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75691" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "35083852", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35083852" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" } ] } ], "phosphorylation": [ { "start_pos": 1113, "end_pos": 1113, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O75691", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75691" }, { "database": "PubMed", "id": "35494241", "url": "" } ], "site_lbl": "Ser1113" }, { "start_pos": 1115, "end_pos": 1115, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O75691", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75691" }, { "database": "PubMed", "id": "32897882", "url": "" } ], "site_lbl": "Tyr1115" }, { "start_pos": 1337, "end_pos": 1337, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O75691", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75691" }, { "database": "PubMed", "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995" } ], "site_lbl": "Ser1337" }, { "start_pos": 1741, "end_pos": 1741, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "O75691", "url": "https://www.uniprot.org/uniprot/O75691" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" }, { "database": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" }, { "database": "iPTMnet", "id": "O75691", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75691" }, { "database": "PubMed", "id": "16565220", "url": "https://glygen.org/publication/PubMed/16565220" }, { "database": "PubMed", "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995" }, { "database": "PubMed", "id": "19691289", "url": "https://glygen.org/publication/PubMed/19691289" }, { "database": "phospho.ELM", "id": "O75691", "url": "http://phospho.elm.eu.org/byAccession/O75691.html" }, { "database": "PubMed", "id": "15302935", "url": "https://glygen.org/publication/PubMed/15302935" } ], "site_lbl": "Thr1741" }, { "start_pos": 2064, "end_pos": 2064, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O75691", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75691" }, { "database": "PubMed", "id": "16565220", "url": "https://glygen.org/publication/PubMed/16565220" }, { "database": "phospho.ELM", "id": "O75691", "url": "http://phospho.elm.eu.org/byAccession/O75691.html" } ], "site_lbl": "Thr2064" }, { "start_pos": 2601, "end_pos": 2601, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O75691", "url": "https://www.uniprot.org/uniprot/O75691" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" }, { "database": "iPTMnet", "id": "O75691", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75691" } ], "site_lbl": "Ser2601" }, { "start_pos": 2637, "end_pos": 2637, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O75691", "url": "https://www.uniprot.org/uniprot/O75691" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "phospho.ELM", "id": "O75691", "url": "http://phospho.elm.eu.org/byAccession/O75691.html" }, { "database": "iPTMnet", "id": "O75691", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75691" }, { "database": "PubMed", "id": "15302935", "url": "https://glygen.org/publication/PubMed/15302935" } ], "site_lbl": "Ser2637" }, { "start_pos": 788, "end_pos": 788, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O75691", "url": "https://www.uniprot.org/uniprot/O75691" }, { "database": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" }, { "database": "iPTMnet", "id": "O75691", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75691" }, { "database": "PubMed", "id": "16565220", "url": "https://glygen.org/publication/PubMed/16565220" }, { "database": "phospho.ELM", "id": "O75691", "url": "http://phospho.elm.eu.org/byAccession/O75691.html" } ], "site_lbl": "Ser788" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Human Nop5/Nop58 is a component common to the box C/D small nucleolar ribonucleoproteins.", "journal": "RNA (New York, N.Y.)", "date": "1999", "authors": "Lyman SK, Gerace L, Baserga SJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-6790901", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6790901" } ], "reference": [ { "type": "PubMed", "id": "10606270", "url": "https://glygen.org/publication/PubMed/10606270" } ] }, { "title": "A common core RNP structure shared between the small nucleoar box C/D RNPs and the spliceosomal U4 snRNP.", "journal": "Cell", "date": "2000", "authors": "Watkins NJ, Segault V, Charpentier B, Nottrott S, Fabrizio P, Bachi A, Wilm M, Rosbash M, Branlant C, Luhrmann R", "evidence": [ { "database": "Reactome", "id": "R-HSA-6790901", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6790901" } ], "reference": [ { "type": "PubMed", "id": "11081632", "url": "https://glygen.org/publication/PubMed/11081632" } ] }, { "title": "Directed proteomic analysis of the human nucleolus.", "journal": "Curr. Biol.", "date": "2002", "authors": "Andersen JS, Lyon CE, Fox AH, Leung AK, Lam YW, Steen H, Mann M, Lamond AI", "evidence": [ { "database": "UniProtKB", "id": "O75691", "url": "https://www.uniprot.org/uniprot/O75691" } ], "reference": [ { "type": "PubMed", "id": "11790298", "url": "https://glygen.org/publication/PubMed/11790298" } ] }, { "title": "Isolation and proteomic characterization of the major proteins of the nucleolin-binding ribonucleoprotein complexes.", "journal": "Proteomics", "date": "2001", "authors": "Yanagida M, Shimamoto A, Nishikawa K, Furuichi Y, Isobe T, Takahashi N", "evidence": [ { "database": "Reactome", "id": "R-HSA-6791226", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6791226" } ], "reference": [ { "type": "PubMed", "id": "11922599", "url": "https://glygen.org/publication/PubMed/11922599" } ] }, { "title": "Nep1p (Emg1p), a novel protein conserved in eukaryotes and archaea, is involved in ribosome biogenesis.", "journal": "Current genetics", "date": "2002", "authors": "Eschrich D, Buchhaupt M, Kotter P, Entian KD", "evidence": [ { "database": "Reactome", "id": "R-HSA-6790901", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6790901" } ], "reference": [ { "type": "PubMed", "id": "11935223", "url": "https://glygen.org/publication/PubMed/11935223" } ] }, { "title": "Characterization of two novel genes, WBSCR20 and WBSCR22, deleted in Williams-Beuren syndrome.", "journal": "Cytogenetics and cell genetics", "date": "2001", "authors": "Doll A, Grzeschik KH", "evidence": [ { "database": "Reactome", "id": "R-HSA-6790901", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6790901" } ], "reference": [ { "type": "PubMed", "id": "11978965", "url": "https://glygen.org/publication/PubMed/11978965" } ] }, { "title": "A large nucleolar U3 ribonucleoprotein required for 18S ribosomal RNA biogenesis.", "journal": "Nature", "date": "2002", "authors": "Dragon F, Gallagher JE, Compagnone-Post PA, Mitchell BM, Porwancher KA, Wehner KA, Wormsley S, Settlage RE, Shabanowitz J, Osheim Y, Beyer AL, Hunt DF, Baserga SJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-6791226", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6791226" } ], "reference": [ { "type": "PubMed", "id": "12068309", "url": "https://glygen.org/publication/PubMed/12068309" } ] }, { "title": "90S pre-ribosomes include the 35S pre-rRNA, the U3 snoRNP, and 40S subunit processing factors but predominantly lack 60S synthesis factors.", "journal": "Molecular cell", "date": "2002", "authors": "Grandi P, Rybin V, Bassler J, Petfalski E, Strauss D, Marzioch M, Schafer T, Kuster B, Tschochner H, Tollervey D, Gavin AC, Hurt E", "evidence": [ { "database": "Reactome", "id": "R-HSA-6791226", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6791226" } ], "reference": [ { "type": "PubMed", "id": "12150911", "url": "https://glygen.org/publication/PubMed/12150911" } ] }, { "title": "Conserved stem II of the box C/D motif is essential for nucleolar localization and is required, along with the 15.5K protein, for the hierarchical assembly of the box C/D snoRNP.", "journal": "Molecular and cellular biology", "date": "2002", "authors": "Watkins NJ, Dickmanns A, Luhrmann R", "evidence": [ { "database": "Reactome", "id": "R-HSA-6790901", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6790901" } ], "reference": [ { "type": "PubMed", "id": "12417735", "url": "https://glygen.org/publication/PubMed/12417735" } ] }, { "title": "Functional proteomic analysis of human nucleolus.", "journal": "Mol. Biol. Cell", "date": "2002", "authors": "Scherl A, Coute Y, Deon C, Calle A, Kindbeiter K, Sanchez JC, Greco A, Hochstrasser D, Diaz JJ", "evidence": [ { "database": "UniProtKB", "id": "O75691", "url": "https://www.uniprot.org/uniprot/O75691" } ], "reference": [ { "type": "PubMed", "id": "12429849", "url": "https://glygen.org/publication/PubMed/12429849" } ] }, { "title": "Human box H/ACA pseudouridylation guide RNA machinery.", "journal": "Molecular and cellular biology", "date": "2004", "authors": "Kiss AM, Jady BE, Bertrand E, Kiss T", "evidence": [ { "database": "Reactome", "id": "R-HSA-6790901", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6790901" } ], "reference": [ { "type": "PubMed", "id": "15199136", "url": "https://glygen.org/publication/PubMed/15199136" } ] }, { "title": "Large-scale characterization of HeLa cell nuclear phosphoproteins.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2004", "authors": "Beausoleil SA, Jedrychowski M, Schwartz D, Elias JE, Villen J, Li J, Cohn MA, Cantley LC, Gygi SP", "evidence": [ { "database": "iPTMnet", "id": "O75691", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75691" } ], "reference": [ { "type": "PubMed", "id": "15302935", "url": "https://glygen.org/publication/PubMed/15302935" } ] }, { "title": "Nuclear export and cytoplasmic processing of precursors to the 40S ribosomal subunits in mammalian cells.", "journal": "The EMBO journal", "date": "2005", "authors": "Rouquette J, Choesmel V, Gleizes PE", "evidence": [ { "database": "Reactome", "id": "R-HSA-6791226", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6791226" } ], "reference": [ { "type": "PubMed", "id": "16037817", "url": "https://glygen.org/publication/PubMed/16037817" } ] }, { "title": "Mammalian WDR12 is a novel member of the Pes1-Bop1 complex and is required for ribosome biogenesis and cell proliferation.", "journal": "The Journal of cell biology", "date": "2005", "authors": "Holzel M, Rohrmoser M, Schlee M, Grimm T, Harasim T, Malamoussi A, Gruber-Eber A, Kremmer E, Hiddemann W, Bornkamm GW, Eick D", "evidence": [ { "database": "Reactome", "id": "R-HSA-6791226", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6791226" } ], "reference": [ { "type": "PubMed", "id": "16043514", "url": "https://glygen.org/publication/PubMed/16043514" } ] }, { "title": "KIAA0649, a 1A6/DRIM-interacting protein with the oncogenic potential.", "journal": "Biochem. Biophys. Res. Commun.", "date": "2005", "authors": "Yang L, Zhao J, Lu W, Li Y, Du X, Ning T, Lu G, Ke Y", "evidence": [ { "database": "UniProtKB", "id": "O75691", "url": "https://www.uniprot.org/uniprot/O75691" } ], "reference": [ { "type": "PubMed", "id": "16053918", "url": "https://glygen.org/publication/PubMed/16053918" } ] }, { "title": "snoRNA-LBME-db, a comprehensive database of human H/ACA and C/D box snoRNAs.", "journal": "Nucleic acids research", "date": "2006", "authors": "Lestrade L, Weber MJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-6790901", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6790901" } ], "reference": [ { "type": "PubMed", "id": "16381836", "url": "https://glygen.org/publication/PubMed/16381836" } ] }, { "title": "Mapping nucleolar localization sequences of 1A6/DRIM.", "journal": "FEBS letters", "date": "2006", "authors": "Liu J, Du X, Ke Y", "evidence": [ { "database": "UniProtKB", "id": "O75691", "url": "https://www.uniprot.org/uniprot/O75691" } ], "reference": [ { "type": "PubMed", "id": "16458307", "url": "https://glygen.org/publication/PubMed/16458307" } ] }, { "title": "Phosphoproteome analysis of the human mitotic spindle.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2006", "authors": "Nousiainen M, Sillje HH, Sauer G, Nigg EA, Korner R", "evidence": [ { "database": "iPTMnet", "id": "O75691", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75691" } ], "reference": [ { "type": "PubMed", "id": "16565220", "url": "https://glygen.org/publication/PubMed/16565220" } ] }, { "title": "Dominant-negative Pes1 mutants inhibit ribosomal RNA processing and cell proliferation via incorporation into the PeBoW-complex.", "journal": "Nucleic acids research", "date": "2006", "authors": "Grimm T, Holzel M, Rohrmoser M, Harasim T, Malamoussi A, Gruber-Eber A, Kremmer E, Eick D", "evidence": [ { "database": "Reactome", "id": "R-HSA-6791226", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6791226" } ], "reference": [ { "type": "PubMed", "id": "16738141", "url": "https://glygen.org/publication/PubMed/16738141" } ] }, { "title": "Protein-protein and protein-RNA contacts both contribute to the 15.5K-mediated assembly of the U4/U6 snRNP and the box C/D snoRNPs.", "journal": "Molecular and cellular biology", "date": "2006", "authors": "Schultz A, Nottrott S, Watkins NJ, Luhrmann R", "evidence": [ { "database": "Reactome", "id": "R-HSA-6790901", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6790901" } ], "reference": [ { "type": "PubMed", "id": "16782898", "url": "https://glygen.org/publication/PubMed/16782898" } ] }, { "title": "The consensus coding sequences of human breast and colorectal cancers.", "journal": "Science (New York, N.Y.)", "date": "2006", "authors": "Sjoblom T, Jones S, Wood LD, Parsons DW, Lin J, Barber TD, Mandelker D, Leary RJ, Ptak J, Silliman N, Szabo S, Buckhaults P, Farrell C, Meeh P, Markowitz SD, Willis J, Dawson D, Willson JK, Gazdar AF, Hartigan J, Wu L, Liu C, Parmigiani G, Park BH, Bachman KE, Papadopoulos N, Vogelstein B, Kinzler KW, Velculescu VE", "evidence": [ { "database": "UniProtKB", "id": "O75691", "url": "https://www.uniprot.org/uniprot/O75691" } ], "reference": [ { "type": "PubMed", "id": "16959974", "url": "https://glygen.org/publication/PubMed/16959974" } ] }, { "title": "The BRCT domain of mammalian Pes1 is crucial for nucleolar localization and rRNA processing.", "journal": "Nucleic acids research", "date": "2007", "authors": "Holzel M, Grimm T, Rohrmoser M, Malamoussi A, Harasim T, Gruber-Eber A, Kremmer E, Eick D", "evidence": [ { "database": "Reactome", "id": "R-HSA-6791226", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6791226" } ], "reference": [ { "type": "PubMed", "id": "17189298", "url": "https://glygen.org/publication/PubMed/17189298" } ] }, { "title": "Interdependence of Pes1, Bop1, and WDR12 controls nucleolar localization and assembly of the PeBoW complex required for maturation of the 60S ribosomal subunit.", "journal": "Molecular and cellular biology", "date": "2007", "authors": "Rohrmoser M, Holzel M, Grimm T, Malamoussi A, Harasim T, Orban M, Pfisterer I, Gruber-Eber A, Kremmer E, Eick D", "evidence": [ { "database": "Reactome", "id": "R-HSA-6791226", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6791226" } ], "reference": [ { "type": "PubMed", "id": "17353269", "url": "https://glygen.org/publication/PubMed/17353269" } ] }, { "title": "C1D and hMtr4p associate with the human exosome subunit PM/Scl-100 and are involved in pre-rRNA processing.", "journal": "Nucleic acids research", "date": "2007", "authors": "Schilders G, van Dijk E, Pruijn GJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-6791226", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6791226" } ], "reference": [ { "type": "PubMed", "id": "17412707", "url": "https://glygen.org/publication/PubMed/17412707" } ] }, { "title": "Human 1A6/DRIM, the homolog of yeast Utp20, functions in the 18S rRNA processing.", "journal": "Biochimica et biophysica acta", "date": "2007-06", "authors": "Wang You, Liu Jiangying, Zhao Hong, L\u00fc Wenqing, Zhao Jun, Yang Lin, Li Ning, Du Xiaojuan, Ke Yang", "evidence": [ { "database": "UniProtKB", "id": "O75691", "url": "https://www.uniprot.org/uniprot/O75691" } ], "reference": [ { "type": "PubMed", "id": "17498821", "url": "https://glygen.org/publication/PubMed/17498821" } ] }, { "title": "A dynamic scaffold of pre-snoRNP factors facilitates human box C/D snoRNP assembly.", "journal": "Molecular and cellular biology", "date": "2007", "authors": "McKeegan KS, Debieux CM, Boulon S, Bertrand E, Watkins NJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-6790901", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6790901" } ], "reference": [ { "type": "PubMed", "id": "17636026", "url": "https://glygen.org/publication/PubMed/17636026" } ] }, { "title": "ISG20L2, a novel vertebrate nucleolar exoribonuclease involved in ribosome biogenesis.", "journal": "Molecular & cellular proteomics : MCP", "date": "2008", "authors": "Coute Y, Kindbeiter K, Belin S, Dieckmann R, Duret L, Bezin L, Sanchez JC, Diaz JJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-6791226", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6791226" } ], "reference": [ { "type": "PubMed", "id": "18065403", "url": "https://glygen.org/publication/PubMed/18065403" } ] }, { "title": "Mouse Eri1 interacts with the ribosome and catalyzes 5.8S rRNA processing.", "journal": "Nature structural & molecular biology", "date": "2008", "authors": "Ansel KM, Pastor WA, Rath N, Lapan AD, Glasmacher E, Wolf C, Smith LC, Papadopoulou N, Lamperti ED, Tahiliani M, Ellwart JW, Shi Y, Kremmer E, Rao A, Heissmeyer V", "evidence": [ { "database": "Reactome", "id": "R-HSA-6791226", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6791226" } ], "reference": [ { "type": "PubMed", "id": "18438418", "url": "https://glygen.org/publication/PubMed/18438418" } ] }, { "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": "O75691", "url": "https://www.uniprot.org/uniprot/O75691" }, { "database": "iPTMnet", "id": "O75691", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75691" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.", "journal": "Molecular cell", "date": "2008", "authors": "Daub H, Olsen JV, Bairlein M, Gnad F, Oppermann FS, Korner R, Greff Z, Keri G, Stemmann O, Mann M", "evidence": [ { "database": "UniProtKB", "id": "O75691", "url": "https://www.uniprot.org/uniprot/O75691" }, { "database": "iPTMnet", "id": "O75691", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75691" } ], "reference": [ { "type": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" } ] }, { "title": "Functionality and substrate specificity of human box H/ACA guide RNAs.", "journal": "RNA (New York, N.Y.)", "date": "2009", "authors": "Xiao M, Yang C, Schattner P, Yu YT", "evidence": [ { "database": "Reactome", "id": "R-HSA-6790901", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6790901" } ], "reference": [ { "type": "PubMed", "id": "19033376", "url": "https://glygen.org/publication/PubMed/19033376" } ] }, { "title": "Critical role of nucleostemin in pre-rRNA processing.", "journal": "The Journal of biological chemistry", "date": "2009", "authors": "Romanova L, Grand A, Zhang L, Rayner S, Katoku-Kikyo N, Kellner S, Kikyo N", "evidence": [ { "database": "Reactome", "id": "R-HSA-6791226", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6791226" } ], "reference": [ { "type": "PubMed", "id": "19106111", "url": "https://glygen.org/publication/PubMed/19106111" } ] }, { "title": "A novel small-subunit processome assembly intermediate that contains the U3 snoRNP, nucleolin, RRP5, and DBP4.", "journal": "Molecular and cellular biology", "date": "2009", "authors": "Turner AJ, Knox AA, Prieto JL, McStay B, Watkins NJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-6791226", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6791226" } ], "reference": [ { "type": "PubMed", "id": "19332556", "url": "https://glygen.org/publication/PubMed/19332556" } ] }, { "title": "Mutation of a gene essential for ribosome biogenesis, EMG1, causes Bowen-Conradi syndrome.", "journal": "American journal of human genetics", "date": "2009", "authors": "Armistead J, Khatkar S, Meyer B, Mark BL, Patel N, Coghlan G, Lamont RE, Liu S, Wiechert J, Cattini PA, Koetter P, Wrogemann K, Greenberg CR, Entian KD, Zelinski T, Triggs-Raine B", "evidence": [ { "database": "Reactome", "id": "R-HSA-6790901", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6790901" } ], "reference": [ { "type": "PubMed", "id": "19463982", "url": "https://glygen.org/publication/PubMed/19463982" } ] }, { "title": "Distinct cytoplasmic maturation steps of 40S ribosomal subunit precursors require hRio2.", "journal": "The Journal of cell biology", "date": "2009", "authors": "Zemp I, Wild T, O'Donohue MF, Wandrey F, Widmann B, Gleizes PE, Kutay U", "evidence": [ { "database": "Reactome", "id": "R-HSA-6791226", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6791226" } ], "reference": [ { "type": "PubMed", "id": "19564402", "url": "https://glygen.org/publication/PubMed/19564402" } ] }, { "title": "Phosphorylation dynamics during early differentiation of human embryonic stem cells.", "journal": "Cell stem cell", "date": "2009", "authors": "Van Hoof D, Munoz J, Braam SR, Pinkse MW, Linding R, Heck AJ, Mummery CL, Krijgsveld J", "evidence": [ { "database": "iPTMnet", "id": "O75691", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75691" } ], "reference": [ { "type": "PubMed", "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995" } ] }, { "title": "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.", "journal": "Science signaling", "date": "2009", "authors": "Mayya V, Lundgren DH, Hwang SI, Rezaul K, Wu L, Eng JK, Rodionov V, Han DK", "evidence": [ { "database": "UniProtKB", "id": "O75691", "url": "https://www.uniprot.org/uniprot/O75691" }, { "database": "iPTMnet", "id": "O75691", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75691" } ], "reference": [ { "type": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" } ] }, { "title": "Quantitative analysis of the human spindle phosphoproteome at distinct mitotic stages.", "journal": "Journal of proteome research", "date": "2009", "authors": "Malik R, Lenobel R, Santamaria A, Ries A, Nigg EA, Korner R", "evidence": [ { "database": "iPTMnet", "id": "O75691", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75691" } ], "reference": [ { "type": "PubMed", "id": "19691289", "url": "https://glygen.org/publication/PubMed/19691289" } ] }, { "title": "RNA helicase Prp43 and its co-factor Pfa1 promote 20 to 18 S rRNA processing catalyzed by the endonuclease Nob1.", "journal": "The Journal of biological chemistry", "date": "2009", "authors": "Pertschy B, Schneider C, Gnadig M, Schafer T, Tollervey D, Hurt E", "evidence": [ { "database": "Reactome", "id": "R-HSA-6791226", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6791226" } ], "reference": [ { "type": "PubMed", "id": "19801658", "url": "https://glygen.org/publication/PubMed/19801658" } ] }, { "title": "Evolutionarily conserved function of RRP36 in early cleavages of the pre-rRNA and production of the 40S ribosomal subunit.", "journal": "Molecular and cellular biology", "date": "2010", "authors": "Gerus M, Bonnart C, Caizergues-Ferrer M, Henry Y, Henras AK", "evidence": [ { "database": "Reactome", "id": "R-HSA-6791226", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6791226" } ], "reference": [ { "type": "PubMed", "id": "20038530", "url": "https://glygen.org/publication/PubMed/20038530" } ] }, { "title": "The ribosome assembly factor Nep1 responsible for Bowen-Conradi syndrome is a pseudouridine-N1-specific methyltransferase.", "journal": "Nucleic acids research", "date": "2010", "authors": "Wurm JP, Meyer B, Bahr U, Held M, Frolow O, Kotter P, Engels JW, Heckel A, Karas M, Entian KD, Wohnert J", "evidence": [ { "database": "Reactome", "id": "R-HSA-6790901", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6790901" } ], "reference": [ { "type": "PubMed", "id": "20047967", "url": "https://glygen.org/publication/PubMed/20047967" } ] }, { "title": "Defects in 18 S or 28 S rRNA processing activate the p53 pathway.", "journal": "The Journal of biological chemistry", "date": "2010", "authors": "Holzel M, Orban M, Hochstatter J, Rohrmoser M, Harasim T, Malamoussi A, Kremmer E, Langst G, Eick D", "evidence": [ { "database": "Reactome", "id": "R-HSA-6791226", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6791226" } ], "reference": [ { "type": "PubMed", "id": "20056613", "url": "https://glygen.org/publication/PubMed/20056613" } ] }, { "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": "UniProtKB", "id": "O75691", "url": "https://www.uniprot.org/uniprot/O75691" }, { "database": "iPTMnet", "id": "O75691", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75691" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "The human core exosome interacts with differentially localized processive RNases: hDIS3 and hDIS3L.", "journal": "The EMBO journal", "date": "2010", "authors": "Tomecki R, Kristiansen MS, Lykke-Andersen S, Chlebowski A, Larsen KM, Szczesny RJ, Drazkowska K, Pastula A, Andersen JS, Stepien PP, Dziembowski A, Jensen TH", "evidence": [ { "database": "Reactome", "id": "R-HSA-6791226", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6791226" } ], "reference": [ { "type": "PubMed", "id": "20531386", "url": "https://glygen.org/publication/PubMed/20531386" } ] }, { "title": "The NIP7 protein is required for accurate pre-rRNA processing in human cells.", "journal": "Nucleic acids research", "date": "2011", "authors": "Morello LG, Hesling C, Coltri PP, Castilho BA, Rimokh R, Zanchin NI", "evidence": [ { "database": "Reactome", "id": "R-HSA-6791226", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6791226" } ], "reference": [ { "type": "PubMed", "id": "20798176", "url": "https://glygen.org/publication/PubMed/20798176" } ] }, { "title": "Analysis of two human pre-ribosomal factors, bystin and hTsr1, highlights differences in evolution of ribosome biogenesis between yeast and mammals.", "journal": "Nucleic acids research", "date": "2011", "authors": "Carron C, O'Donohue MF, Choesmel V, Faubladier M, Gleizes PE", "evidence": [ { "database": "Reactome", "id": "R-HSA-6791226", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6791226" } ], "reference": [ { "type": "PubMed", "id": "20805244", "url": "https://glygen.org/publication/PubMed/20805244" } ] }, { "title": "Functional dichotomy of ribosomal proteins during the synthesis of mammalian 40S ribosomal subunits.", "journal": "The Journal of cell biology", "date": "2010", "authors": "O'Donohue MF, Choesmel V, Faubladier M, Fichant G, Gleizes PE", "evidence": [ { "database": "Reactome", "id": "R-HSA-6791226", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6791226" } ], "reference": [ { "type": "PubMed", "id": "20819938", "url": "https://glygen.org/publication/PubMed/20819938" } ] }, { "title": "5'-end surveillance by Xrn2 acts as a shared mechanism for mammalian pre-rRNA maturation and decay.", "journal": "Nucleic acids research", "date": "2011", "authors": "Wang M, Pestov DG", "evidence": [ { "database": "Reactome", "id": "R-HSA-6791226", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6791226" } ], "reference": [ { "type": "PubMed", "id": "21036871", "url": "https://glygen.org/publication/PubMed/21036871" } ] }, { "title": "Nol9 is a novel polynucleotide 5'-kinase involved in ribosomal RNA processing.", "journal": "The EMBO journal", "date": "2010", "authors": "Heindl K, Martinez J", "evidence": [ { "database": "Reactome", "id": "R-HSA-6791226", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6791226" } ], "reference": [ { "type": "PubMed", "id": "21063389", "url": "https://glygen.org/publication/PubMed/21063389" } ] }, { "title": "Tandem affinity purification combined with inducible shRNA expression as a tool to study the maturation of macromolecular assemblies.", "journal": "RNA (New York, N.Y.)", "date": "2011", "authors": "Wyler E, Zimmermann M, Widmann B, Gstaiger M, Pfannstiel J, Kutay U, Zemp I", "evidence": [ { "database": "Reactome", "id": "R-HSA-6791226", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6791226" } ], "reference": [ { "type": "PubMed", "id": "21097556", "url": "https://glygen.org/publication/PubMed/21097556" } ] }, { "title": "1A6/DRIM, a novel t-UTP, activates RNA polymerase I transcription and promotes cell proliferation.", "journal": "PloS one", "date": "2010", "authors": "Peng Q, Wu J, Zhang Y, Liu Y, Kong R, Hu L, Du X, Ke Y", "evidence": [ { "database": "RefSeq", "id": "NP_055318", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055318" } ], "reference": [ { "type": "PubMed", "id": "21151873", "url": "https://glygen.org/publication/PubMed/21151873" } ] }, { "title": "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.", "journal": "Science signaling", "date": "2011", "authors": "Rigbolt KT, Prokhorova TA, Akimov V, Henningsen J, Johansen PT, Kratchmarova I, Kassem M, Mann M, Olsen JV, Blagoev B", "evidence": [ { "database": "UniProtKB", "id": "O75691", "url": "https://www.uniprot.org/uniprot/O75691" }, { "database": "iPTMnet", "id": "O75691", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75691" } ], "reference": [ { "type": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" } ] }, { "title": "The kinase activity of human Rio1 is required for final steps of cytoplasmic maturation of 40S subunits.", "journal": "Molecular biology of the cell", "date": "2012", "authors": "Widmann B, Wandrey F, Badertscher L, Wyler E, Pfannstiel J, Zemp I, Kutay U", "evidence": [ { "database": "Reactome", "id": "R-HSA-6791226", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6791226" } ], "reference": [ { "type": "PubMed", "id": "22072790", "url": "https://glygen.org/publication/PubMed/22072790" } ] }, { "title": "LAS1L interacts with the mammalian Rix1 complex to regulate ribosome biogenesis.", "journal": "Molecular biology of the cell", "date": "2012", "authors": "Castle CD, Cassimere EK, Denicourt C", "evidence": [ { "database": "Reactome", "id": "R-HSA-6791226", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6791226" } ], "reference": [ { "type": "PubMed", "id": "22190735", "url": "https://glygen.org/publication/PubMed/22190735" } ] }, { "title": "The human nucleolar protein FTSJ3 associates with NIP7 and functions in pre-rRNA processing.", "journal": "PloS one", "date": "2011", "authors": "Morello LG, Coltri PP, Quaresma AJ, Simabuco FM, Silva TC, Singh G, Nickerson JA, Oliveira CC, Moore MJ, Zanchin NI", "evidence": [ { "database": "Reactome", "id": "R-HSA-6791226", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6791226" } ], "reference": [ { "type": "PubMed", "id": "22195017", "url": "https://glygen.org/publication/PubMed/22195017" } ] }, { "title": "NOL11, implicated in the pathogenesis of North American Indian childhood cirrhosis, is required for pre-rRNA transcription and processing.", "journal": "PLoS genetics", "date": "2012", "authors": "Freed EF, Prieto JL, McCann KL, McStay B, Baserga SJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-6791226", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6791226" } ], "reference": [ { "type": "PubMed", "id": "22916032", "url": "https://glygen.org/publication/PubMed/22916032" } ] }, { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "O75691", "url": "https://www.uniprot.org/uniprot/O75691" }, { "database": "iPTMnet", "id": "O75691", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75691" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "RNA pseudouridylation: new insights into an old modification.", "journal": "Trends in biochemical sciences", "date": "2013", "authors": "Ge J, Yu YT", "evidence": [ { "database": "Reactome", "id": "R-HSA-6790901", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6790901" } ], "reference": [ { "type": "PubMed", "id": "23391857", "url": "https://glygen.org/publication/PubMed/23391857" } ] }, { "title": "Both endonucleolytic and exonucleolytic cleavage mediate ITS1 removal during human ribosomal RNA processing.", "journal": "The Journal of cell biology", "date": "2013", "authors": "Sloan KE, Mattijssen S, Lebaron S, Tollervey D, Pruijn GJ, Watkins NJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-6791226", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6791226" } ], "reference": [ { "type": "PubMed", "id": "23439679", "url": "https://glygen.org/publication/PubMed/23439679" } ] }, { "title": "Gradual processing of the ITS1 from the nucleolus to the cytoplasm during synthesis of the human 18S rRNA.", "journal": "Nucleic acids research", "date": "2013", "authors": "Preti M, O'Donohue MF, Montel-Lehry N, Bortolin-Cavaille ML, Choesmel V, Gleizes PE", "evidence": [ { "database": "Reactome", "id": "R-HSA-6791226", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6791226" } ], "reference": [ { "type": "PubMed", "id": "23482395", "url": "https://glygen.org/publication/PubMed/23482395" } ] }, { "title": "The first pre-rRNA-processing event occurs in a large complex: analysis by gel retardation, sedimentation, and UV cross-linking.", "journal": "Molecular and cellular biology", "date": "1990", "authors": "Kass S, Sollner-Webb B", "evidence": [ { "database": "Reactome", "id": "R-HSA-6791226", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6791226" } ], "reference": [ { "type": "PubMed", "id": "2388630", "url": "https://glygen.org/publication/PubMed/2388630" } ] }, { "title": "The human WBSCR22 protein is involved in the biogenesis of the 40S ribosomal subunits in mammalian cells.", "journal": "PloS one", "date": "2013", "authors": "Ounap K, Kasper L, Kurg A, Kurg R", "evidence": [ { "database": "Reactome", "id": "R-HSA-6790901", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6790901" } ], "reference": [ { "type": "PubMed", "id": "24086612", "url": "https://glygen.org/publication/PubMed/24086612" } ] }, { "title": "CK1delta and CK1epsilon are components of human 40S subunit precursors required for cytoplasmic 40S maturation.", "journal": "Journal of cell science", "date": "2014", "authors": "Zemp I, Wandrey F, Rao S, Ashiono C, Wyler E, Montellese C, Kutay U", "evidence": [ { "database": "Reactome", "id": "R-HSA-6791226", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6791226" } ], "reference": [ { "type": "PubMed", "id": "24424021", "url": "https://glygen.org/publication/PubMed/24424021" } ] }, { "title": "The roles of SSU processome components and surveillance factors in the initial processing of human ribosomal RNA.", "journal": "RNA (New York, N.Y.)", "date": "2014", "authors": "Sloan KE, Bohnsack MT, Schneider C, Watkins NJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-6791226", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6791226" } ], "reference": [ { "type": "PubMed", "id": "24550520", "url": "https://glygen.org/publication/PubMed/24550520" } ] }, { "title": "Human NAT10 is an ATP-dependent RNA acetyltransferase responsible for N4-acetylcytidine formation in 18 S ribosomal RNA (rRNA).", "journal": "The Journal of biological chemistry", "date": "2014", "authors": "Ito S, Horikawa S, Suzuki T, Kawauchi H, Tanaka Y, Suzuki T, Suzuki T", "evidence": [ { "database": "Reactome", "id": "R-HSA-6790901", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6790901" } ], "reference": [ { "type": "PubMed", "id": "25411247", "url": "https://glygen.org/publication/PubMed/25411247" } ] }, { "title": "WBSCR22/Merm1 is required for late nuclear pre-ribosomal RNA processing and mediates N7-methylation of G1639 in human 18S rRNA.", "journal": "RNA (New York, N.Y.)", "date": "2015", "authors": "Haag S, Kretschmer J, Bohnsack MT", "evidence": [ { "database": "Reactome", "id": "R-HSA-6790901", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6790901" } ], "reference": [ { "type": "PubMed", "id": "25525153", "url": "https://glygen.org/publication/PubMed/25525153" } ] }, { "title": "Yeast Kre33 and human NAT10 are conserved 18S rRNA cytosine acetyltransferases that modify tRNAs assisted by the adaptor Tan1/THUMPD1.", "journal": "Nucleic acids research", "date": "2015", "authors": "Sharma S, Langhendries JL, Watzinger P, Kotter P, Entian KD, Lafontaine DL", "evidence": [ { "database": "Reactome", "id": "R-HSA-6790901", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6790901" } ], "reference": [ { "type": "PubMed", "id": "25653167", "url": "https://glygen.org/publication/PubMed/25653167" } ] }, { "title": "The human 18S rRNA base methyltransferases DIMT1L and WBSCR22-TRMT112 but not rRNA modification are required for ribosome biogenesis.", "journal": "Molecular biology of the cell", "date": "2015", "authors": "Zorbas C, Nicolas E, Wacheul L, Huvelle E, Heurgue-Hamard V, Lafontaine DL", "evidence": [ { "database": "Reactome", "id": "R-HSA-6790901", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6790901" } ], "reference": [ { "type": "PubMed", "id": "25851604", "url": "https://glygen.org/publication/PubMed/25851604" } ] }, { "title": "Human nucleolar protein Nop52 (RRP1/NNP-1) is involved in site 2 cleavage in internal transcribed spacer 1 of pre-rRNAs at early stages of ribosome biogenesis.", "journal": "Nucleic acids research", "date": "2015", "authors": "Yoshikawa H, Ishikawa H, Izumikawa K, Miura Y, Hayano T, Isobe T, Simpson RJ, Takahashi N", "evidence": [ { "database": "Reactome", "id": "R-HSA-6791226", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6791226" } ], "reference": [ { "type": "PubMed", "id": "25969445", "url": "https://glygen.org/publication/PubMed/25969445" } ] }, { "title": "Modified Method of rRNA Structure Analysis Reveals Novel Characteristics of Box C/D RNA Analogues.", "journal": "Acta naturae", "date": "2015", "authors": "Filippova JA, Stepanov GA, Semenov DV, Koval OA, Kuligina EV, Rabinov IV, Richter VA", "evidence": [ { "database": "Reactome", "id": "R-HSA-6790901", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6790901" } ], "reference": [ { "type": "PubMed", "id": "26085946", "url": "https://glygen.org/publication/PubMed/26085946" } ] }, { "title": "Eukaryotic rRNA Modification by Yeast 5-Methylcytosine-Methyltransferases and Human Proliferation-Associated Antigen p120.", "journal": "PloS one", "date": "2015", "authors": "Bourgeois G, Ney M, Gaspar I, Aigueperse C, Schaefer M, Kellner S, Helm M, Motorin Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-6790901", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6790901" } ], "reference": [ { "type": "PubMed", "id": "26196125", "url": "https://glygen.org/publication/PubMed/26196125" } ] }, { "title": "hUTP24 is essential for processing of the human rRNA precursor at site A1, but not at site A0.", "journal": "RNA biology", "date": "2015", "authors": "Tomecki R, Labno A, Drazkowska K, Cysewski D, Dziembowski A", "evidence": [ { "database": "Reactome", "id": "R-HSA-6791226", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6791226" } ], "reference": [ { "type": "PubMed", "id": "26237581", "url": "https://glygen.org/publication/PubMed/26237581" } ] }, { "title": "Ribosome biogenesis factor Tsr3 is the aminocarboxypropyl transferase responsible for 18S rRNA hypermodification in yeast and humans.", "journal": "Nucleic acids research", "date": "2016", "authors": "Meyer B, Wurm JP, Sharma S, Immer C, Pogoryelov D, Kotter P, Lafontaine DL, Wohnert J, Entian KD", "evidence": [ { "database": "Reactome", "id": "R-HSA-6790901", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6790901" } ], "reference": [ { "type": "PubMed", "id": "27084949", "url": "https://glygen.org/publication/PubMed/27084949" } ] }, { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "O75691", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75691" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "Nucleolar maturation of the human small subunit processome.", "journal": "Science (New York, N.Y.)", "date": "2021-09-10", "authors": "Singh Sameer, Vanden Broeck Arnaud, Miller Linamarie, Chaker-Margot Malik, Klinge Sebastian", "evidence": [ { "database": "UniProtKB", "id": "O75691", "url": "https://www.uniprot.org/uniprot/O75691" } ], "reference": [ { "type": "PubMed", "id": "34516797", "url": "https://glygen.org/publication/PubMed/34516797" } ] }, { "title": "O-GlcNAcylation promotes fatty acid synthase activity under nutritional stress as a pro-survival mechanism in cancer cells.", "journal": "Proteomics", "date": "2022", "authors": "Wong YK, Wang J, Lim TK, Lin Q, Yap CT, Shen HM", "evidence": [ { "database": "O-GlcNAc Database", "id": "O75691", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75691" } ], "reference": [ { "type": "PubMed", "id": "35083852", "url": "https://glygen.org/publication/PubMed/35083852" } ] }, { "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": "O75691", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75691" } ], "reference": [ { "type": "PubMed", "id": "37217939", "url": "https://glygen.org/publication/PubMed/37217939" } ] }, { "title": "Eukaryotic ribosomal RNA: the recent excitement in the nucleotide modification problem.", "journal": "Chromosoma", "date": "1997", "authors": "Maden BE, Hughes JM", "evidence": [ { "database": "Reactome", "id": "R-HSA-6790901", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6790901" } ], "reference": [ { "type": "PubMed", "id": "9211966", "url": "https://glygen.org/publication/PubMed/9211966" } ] }, { "title": "Nucleolin functions in the first step of ribosomal RNA processing.", "journal": "The EMBO journal", "date": "1998", "authors": "Ginisty H, Amalric F, Bouvet P", "evidence": [ { "database": "Reactome", "id": "R-HSA-6791226", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6791226" } ], "reference": [ { "type": "PubMed", "id": "9482744", "url": "https://glygen.org/publication/PubMed/9482744" } ] }, { "title": "SnoRNA-guided ribose methylation of rRNA: structural features of the guide RNA duplex influencing the extent of the reaction.", "journal": "Nucleic acids research", "date": "1998", "authors": "Cavaille J, Bachellerie JP", "evidence": [ { "database": "Reactome", "id": "R-HSA-6790901", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6790901" } ], "reference": [ { "type": "PubMed", "id": "9512526", "url": "https://glygen.org/publication/PubMed/9512526" } ] }, { "title": "Differential gene expression in mammary carcinoma cell lines: identification of DRIM, a new gene down-regulated in metastasis.", "journal": "Anticancer Res.", "date": "1998", "authors": "Schwirzke M, Gnirke A, Bork P, Tarin D, Weidle U H", "evidence": [ { "database": "UniProtKB", "id": "O75691", "url": "https://www.uniprot.org/uniprot/O75691" } ], "reference": [ { "type": "PubMed", "id": "9673349", "url": "https://glygen.org/publication/PubMed/9673349" } ] } ], "pathway": [ { "id": "hsa:27340", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:27340", "resource": "KEGG Pathway" }, { "id": "R-HSA-6790901", "name": "rRNA modification in the nucleus and cytosol", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6790901", "resource": "Reactome", "description": "rRNA modification in the nucleus and cytosol" }, { "id": "R-HSA-6791226", "name": "Major pathway of rRNA processing in the nucleolus and cytosol", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6791226", "resource": "Reactome", "description": "Major pathway of rRNA processing in the nucleolus and cytosol" } ], "orthologs": [ { "uniprot_canonical_ac": "F1LXT3-1", "protein_name": "UTP20 small subunit processome component", "gene_name": "Utp20", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MKPKPVSHKTENTYRFLTFAERLGNVNIDIIHRIDRTASYDEDVETYFFEALLKWRELNLTEHFGKFYKEVIDKCQSFNQLVYHQNEIVQSLKTHLQIRNSFAYQPLLDLVVQLARDLQTDFYPHFEDFFLTITSILETQDTELLEWAFTSLSYLYKYLWRLMVKDISKIYSLYSTLLAHKKLHIRNFAAESFTFLMRKVSDKNALFNLMFLDLNEHPEKVEGVGQLLFEMCKGVRNMFHSCTGQALKLILQKLGPVTETETQLPWILVGETLKNMAKSTVVYIHKEHLGVFFDCLQESLLELHNKVTKANCSENSDQMRRLLETFLIVVKHGSGSKVAQPADICGVLLEALQTAHLSTSCRKTLLDVVSALLLVENVSLPEALIEETIEKVFESKFERRLILDFSEVMFAMKQFEQLFLPSFLLYIENCFLMDDSVASDEALAILAKLILNKAAPPTAGSMAIERYPLVFSQQTVGSYLKQRKAESKRRKGQFPVLDHLSSIVQSPPNNDAASLSQSWAALVVLPHLRPLDKEKTISLVSCFIESLFLAVDRGSFGKGNLFVLCQAVNTLLSLEESSELLHLVPVERVKHLVLTFPAEPSVLLLADVYYQRLALCGCKGPLSEEALMELFPKLQANISTGVSKIRLLTIRILNHFDIQLPVSMEDDGLSEQQSAFAILRQAELVPATVSDYREKLLHLRKLRHDVVQSAVPQGPLQEVPLRYLLGMLYINFSALWDPVIELISSHAHGMENKQFWNVCYEHLEKAASHAEKELQKDTRDEESEGGGSWEQTQEGDVGTLYQQQLALKTDCRERLDHTNFRFLLWKALAKFPERVEPRSRELSPLFLRFINNEYYPADLQVAPTQDLRRKGRGAVSEEVEEEPAAGEGEDVEEEAAPTDEAPQKKKTRRAAAKQLIAHLQVFSKFSNPRALYLESKLYELYLQLLLHQDQAVQKITLDCIMTYRHPHILPYRENLQRLLDDRSFKEEIVHFNISEDNSVVKAAHRADLFPILMRILYGRMKHKTGSKTQGKSASGTRMSIVLRFLAGTQPEEIQFFLDLLSEPVKHFKDGDCCSAVIRAVEDLDVSKVLPVGRQHGVLNSLEIVLKNISHLISTYLPKILQILLCMTAAISHILDQREKIQLRFINPLKNLRRLGIKMVTDIFLDWESYQFSAEEIDAVFHGTVWPQICRLGSESQYSPTPLLKLISIWSRNARYFPLLAKQKPGHPECDILTNVFAVLSAKNLSGATASIIMDIVDDLLNLPDFEPTEAVPSLPVTGCVYANVAENTGAYLTVSEPVTVGGRLILPHVPAILQYLSKNTISAEKVKKKKNRAQVSKELGILSKISKFMKDREQCSLLITLLLPFLLRGNVPQDTELDILVTVQNLLQHCLDPSHFLRPLAKLFSVIKNKLSRQLLCTVFQSLSDCESGLKYITDIVKLNAFDKRHLDDINFDVRFSAFQTITSHIKAMQTVDVDYLVAVMHNCFYNMEIGDMSLSDNASICLTSIIKRLAALNVTEKEYKEIIHRTLLEKLRKGLKSQTESVQHDYTLILSCLIQTFPNQLEFKDLVQLTHYHDPEMDFFENMKHIQIHRRARALKKLANQLLEGQVMLSSKSLQNYIMPYAMAPILDEKMLKHENITIAATEVIGAICRHLTWPAYVYYLKHFIHVLQSGQINQKLAVSLLVIVLEAFHFDYKTLEEQMGNVKNEENTVEMTELLEHEAMEVEDMDEQEKEQASERLSDSKEPSGAPEAAASEGTAAKEPECISKSVSFLPRNKEELERTIKTIQGAITGDILPRLHKCLAAATKREEEHKLVKSKVVNDEEVVRVPLAFAMVKLMRSLPREVMEANLPSILLKVCVLLKNRAQEIRDIARSTLCKIMEDLGVHFLQYILKELQTTLVRGYQVHVLTFTVYTLLQGLSSKLHVGELDSCLQIMTEIFNHELFGALAEEKEVKQILSKVMEARRSKSYDSYEILGKFVGKQQVTKLILPLKEILQNTTSLKLARKVHETLRRIIAGLIVNPDMTADALLLLSYGLVSENLPLLTEKEKKPAAPVPDARLPPQSCLLLPATPVRGGAKAVVSKKTNMHVFIESGLRLLHLSLKTSKIKSSSERVLEMLDPFVSVLINCLGAQDVKVITGALQCLIWVLRFPLPSIATKADQLTKHLFLLLKNYARLGAARGQNFHLVVNCFKCVTIVVKKVKSHQITEKQLQVLLAYAEEDIYDTSRQATAFGLLKAILSRKLLVPEIDDVMRKVSKLAISAQSEPARVQCRQVFLKYILDYPLGEKLRPNLEFMLAQLSYEHETGRESTLEMIAYLFETFPQGLLHDYCGMFFIPLCLMMINDDSAMCKRMASMAVKSLLSKVSREKKDWLFALVTSWFEAKKRLNRQLAALACGLFVESEGVDFERRLGTLLPVIEKEIDPESFKDIIEETEEKAADRLLFGFLTLISKLIKECNILHFTKPSETLSKIWSHVHSHLRHPHSWVWLTAAQIFGLLFASCQPEELIQKWKGKKAKKKTSDPVAVKFLTSDLDQKMKSFSLASCHQLHSRFLDASLGEQVVKNLLFIAKVLYLLELDSENKQERLKDSEEQDTLGDALAREAAEEKAAADGKTESSREEKEEPSKPATLMWLIQKLSRMAKLEAAYSPRNPLKRTCIFKFLGAVAVDLGVDRVKPYLPVIIAPLFRELNSTYSEQDPVLKNLSQEIIELLKKLVGLESFSLAFASVQKQASEKRALRKKRKALEFVTNPDIAAKKKLKKHKNKSEAKKRKIEFLRPGYKAKRQKSHSLRDLAMVE", "length": 2795 }, "evidence": [ { "id": "45931633", "url": "http://www.informatics.jax.org/homology/45931633", "database": "MGI" }, { "id": "O75691", "url": "https://omabrowser.org/oma/group/O75691/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "P35194-1", "protein_name": "U3 small nucleolar RNA-associated protein 20", "gene_name": "UTP20", "tax_id": 559292, "organism": "Saccharomyces cerevisiae S288C", "sequence": { "sequence": "MAKQRQTTKSSKRYRYSSFKARIDDLKIEPARNLEKRVHDYVESSHFLASFDQWKEINLSAKFTEFAAEIEHDVQTLPQILYHDKKIFNSLVSFINFHDEFSLQPLLDLLAQFCHDLGPDFLKFYEEAIKTLINLLDAAIEFESSNVFEWGFNCLAYIFKYLSKFLVKKLVLTCDLLIPLLSHSKEYLSRFSAEALSFLVRKCPVSNLREFVRSVFEKLEGDDEQTNLYEGLLILFTESMTSTQETLHSKAKAIMSVLLHEALTKSSPERSVSLLSDIWMNISKYASIESLLPVYEVMYQDFNDSLDATNIDRILKVLTTIVFSESGRKIPDWNKITILIERIMSQSENCASLSQDKVAFLFALFIRNSDVKTLTLFHQKLFNYALTNISDCFLEFFQFALRLSYERVFSFNGLKFLQLFLKKNWQSQGKKIALFFLEVDDKPELQKVREVNFPEEFILSIRDFFVTAEINDSNDLFEIYWRAIIFKYSKLQNTEIIIPLLERIFSTFASPDNFTKDMVGTLLKIYRKEDDASGNNLLKTILDNYENYKESLNFLRGWNKLVSNLHPSESLKGLMSHYPSLLLSLTDNFMLPDGKIRYETLELMKTLMILQGMQVPDLLSSCMVIEEIPLTLQNARDLTIRIKNVGAEFGKTKTDKLVSSFFLKYLFGLLTVRFSPVWTGVFDTLPNVYTKDEALVWKLVLSFIKLPDENQNLDYYQPLLEDGANKVLWDSSVVRLRDTIDTFSHIWSKYSTQNTSIISTTIERRGNTTYPILIRNQALKVMLSIPQVAENHFVDIAPFVYNDFKTYKDEEDMENERVITGSWTEVDRNVFLKTLSKFKNIKNVYSATELHDHLMVLLGSRNTDVQKLALDALLAYKNPTLNKYRDNLKNLLDDTLFKDEITTFLTENGSQSIKAEDEKVVMPYVLRIFFGRAQVPPTSGQKRSRKIAVISVLPNFKKPYINDFLSLASERLDYNYFFGNSHQINSSKATLKTIRRMTGFVNIVNSTLSVLRTNFPLHTNSVLQPLIYSIAMAYYVLDTESTEEVHLRKMASNLRQQGLKCLSSVFEFVGNTFDWSTSMEDIYAVVVKPRISHFSDENLQQPSSLLRLFLYWAHNPSLYQFLYYDEFATATALMDTISNQHVKEAVIGPIIEAADSIIRNPVNDDHYVDLVTLICTSCLKILPSLYVKLSDSNSISTFLNLLVSITEMGFIQDDHVRSRLISSLISILKGKLKKLQENDTQKILKILKLIVFNYNCSWSDIEELYTTISSLFKTFDERNLRVSLTELFIELGRKVPELESISKLVADLNSYSSSRMHEYDFPRILSTFKGLIEDGYKSYSELEWLPLLFTFLHFINNKEELALRTNASHAIMKFIDFINEKPNLNEASKSISMLKDILLPNIRIGLRDSLEEVQSEYVSVLSYMVKNTKYFTDFEDMAILLYNGDEEADFFTNVNHIQLHRRQRAIKRLGEHAHQLKDNSISHYLIPMIEHYVFSDDERYRNIGNETQIAIGGLAQHMSWNQYKALLRRYISMLKTKPNQMKQAVQLIVQLSVPLRETLRIVRDGAESKLTLSKFPSNLDEPSNFIKQELYPTLSKILGTRDDETIIERMPIAEALVNIVLGLTNDDITNFLPSILTNICQVLRSKSEELRDAVRVTLGKISIILGAEYLVFVIKELMATLKRGSQIHVLSYTVHYILKSMHGVLKHSDLDTSSSMIVKIIMENIFGFAGEEKDSENYHTKVKEIKSNKSYDAGEILASNISLTEFGTLLSPVKALLMVRINLRNQNKLSELLRRYLLGLNHNSDSESESILKFCHQLFQESEMSNSPQIPKKKVKDQVDEKEDFFLVNLESKSYTINSNSLLLNSTLQKFALDLLRNVITRHRSFLTVSHLEGFIPFLRDSLLSENEGVVISTLRILITLIRLDFSDESSEIFKNCARKVLNIIKVSPSTSSELCQMGLKFLSAFIRHTDSTLKDTALSYVLGRVLPDLNEPSRQGLAFNFLKALVSKHIMLPELYDIADTTREIMVTNHSKEIRDVSRSVYYQFLMEYDQSKGRLEKQFKFMVDNLQYPTESGRQSVMELINLIITKANPALLSKLSSSFFLALVNVSFNDDAPRCREMASVLISTMLPKLENKDLEIVEKYIAAWLKQVDNASFLNLGLRTYKVYLKSIGFEHTIELDELAIKRIRYILSDTSVGSEHQWDLVYSALNTFSSYMEATESVYKHGFKDIWDGIITCLLYPHSWVRQSAANLVHQLIANKDKLEISLTNLEIQTIATRILHQLGAPSIPENLANVSIKTLVNISILWKEQRTPFIMDVSKQTGEDLKYTTAIDYMVTRIGGIIRSDEHRMDSFMSKKACIQLLALLVQVLDEDEVIAEGEKILLPLYGYLETYYSRAVDEEQEELRTLSNECLKILEDKLQVSDFTKIYTAVKQTVLERRKERRSKRAILAVNAPQISADKKLRKHARSREKRKHEKDENGYYQRRNKRKRA", "length": 2493 }, "evidence": [ { "id": "O75691", "url": "https://omabrowser.org/oma/group/O75691/", "database": "OMA" } ], "common_name": "Yeast" }, { "uniprot_canonical_ac": "Q5XG71-1", "protein_name": "Small subunit processome component 20 homolog", "gene_name": "Utp20", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MKPKPLSHKTENTYRFLTFAERLGNVNIDIIHRIDRTASYDEDVETYFFEALLKWRELNLTEHFGKFYKEVIDKCQSFNQLVYHQNEIVQSLKTHLQIRNSLAYQPLLDLVVQLARDLQTDFYPHFEDFFLTITSILETQDTELLEWAFTSLSYLYKYLWRLMVKDMSKIYSLYSTLLAHKKLHIRNFAAESFTFLMRKVSDKNALFNLMFLDLNEHPEKVEGVGQLLFEMCKGVRNMFHSCTGQALKLLLQKLGPVTETETQLPWILVGETLKTMAKSSVVYIYKEHFGVFFDCLQESLLELHNKVTEANCCENSEQMRRLLETYLIVVKHGSGSKITRPADVCGVLSEALQTASLSTSCRKTLLDVVSALLLAENVSLPETLIKETVEKVFESKFERRSVLDFSEVMFAMKQFEQLFLPSFLLYIENCFLMDNSVVSDEALAILAKLILHKAPPPTAGSMAIEKYPLVFSQQTVGSYLKQRKADSKRRKEQFPVLSHLLSIVQLPPNKDATYLSRSWAALVVLPHLRPLEKEKTISLVSCFIESLFLAVDRGSFGKGHLFVLCQAVNTLLSLEESSELLHLVPVGRVKHLVLTSPTEPSVLLLADLYYQRLALCGCKGPLSEEALMELFPKLQANISTGVSKIRLLTIRILNHFDIRLPVSMEDDGLSERQSAFAILRQAELVPATVSDYREKLLHLRKLRHDVVQGAVPQGRLQEVPLRYLLGMLYVNFSALWDPVIELISSHAYGMENKQFWNVCYEHLEKAASHAEKELHKDVRDEESTGDESWEQTQEGDVGDLYQQQLALKTDCRERLDHTNFRFLLWRALAKFPERVEPRSRELSPLFLRFINNEYYPADLQVAPTQDLRKKGRGAVAEEEEEEEPAAGEDEELEEEAVPTEDAPQKKKTRRAAAKQLIAHLQVFSKFSNPRALYLESKLYELYLQLLLHQDQAVQKITLDCIMTYRHPHILPYRENLQRLLDDRSFKEEIVHFNISEDNTVVKAAHRADLFPILMRILYGRMKNKTGSKTQGKSASGTRMAIVLRFLAGTQPEEIQLFLDLLSEPVKHFKDGDCCSAVIQAVEDLDVSKVLPVGRQHGVLNSLEVVLKNISHLISTYLPKILQILLCMTATVSHILDQREKIQLRFINPLKNLRRLGIKMVTDIFLDWESYQFKAEEIDAVFHGTVWPQICRLGSESQYSPTPLLKLISIWSRNARYFPLLAKQKPGHPEYDILTNVFAVLSAKNLSEATASIIMDIVDDLLNLPDFQPTEAVPSLPVTGCVYADVAEDTEPVTVGGRLVLPHVPAILQYLSKTTISAEKVKKKKNRAQVSKELGILSKISKFMKDREQCSLLITLLLPFLLRGNVAQDTELDILVTVQNLLQHCLHPAHFLRPLAKLFSVIKNKLSRQLLCTVFQMSDFESRLKYITDIVKLNAFDKRHLDDINFDVRFSAFQTITSNIKAMQTVDADYLIAVMHNCFYNMEIGDMSLSDNASICLTSIIKRLAALNVTEKEYKEIIHRTLLEKLRKGLKSQTESVQHDYTLILSCLIQTFPNQLEFKDLVQLTHCHDPEMDFFENMKHIQIHRRARALKKLAKQLLEGQVVLSSKSLQNYIMPYAMAPILDEKMLKHENITIAATEVIGAICRHLSWPAYVYYLKHFIHVLQSGQINQKLAVSLLVIVLEAFHFDYKTLEEQMGNVKNEENTVEMAELLEPEAMEVEDMDEAGKEQASERLSDSKEALGAPEAAASEGTVAKEQECISKSVSFLPRNKEELERTIQTIQGAITGDILPRLHKCLASATKREEEHKLVKSKVVNDEEVVRVPLAFAMVKLMRSLPREVMEANLPSILLKVCVLLKNRAQEIRDIARSTLSKIIEDLGVHFLQYVLKELQTTLVRGYQVHVLTFTVYTLLQGLSSKLQVGDLDSCLHIMTEIFNHELFGALAEEKEVKQILSKVMEARRSKSYDSYEILGKFVGKQQVTKLILPLKEILQNTTSLKLARKVHETLRRIIAGLIVNPDMTADALLLLSYGLVSENLPLLTEKEKKPAAPVPDARLPPQSCLLLPATPVRGGPKAVVNKKTNMHIFIESGLRLLHLSLKTSRIKSSSEHVLEMLDPFVSVLINCLGAQDVKVITGALQCLIWVLRFPLPSIASKAEQLTKHLFLLLKNYARVGAARGQNFHLVVNCFKCVTIVVKKVKSHQITEKQLQVLLAYAEEDIYDTSRQATAFGLLKAILSRKLLVPEIDDIMRKVSKLAISAQNEPARVQCRQVFLKYILDYPLGEKLRPNLEFMLAQLNYEHETGRESTLEMIAYLFETFPQGLLHEHCGMFFIPLCLMMVNDDSAMCKRMASMAIKSLLSKVDREKKDWLFGLVTSWFEAKKRLNRQLAALACGLFVESEGVDFERRLGTLLPVIEKEIDPENFKDIIEETEEKAADRLLFGFLTLMRKLIKECSIIHFTKPSETLSKIWSHVHSHLRHPHSWVWLTAAQIFGLLFASCQPEELIQKWKGKKTKKKTSDPIAVRFLTSDLGQKMKSISLASCHQLHSKFLDESLGEQVVKNLLFIAKVLYLLELESGNKRGEVKDSEEQDTLADALAREAAEEKAGAGGKMESNREKKEEPSKPATLMWLIQKLSRMAKLEAAYSPRNPLKRTCIFKFLGAVAVDLGVDRVKPYLPLIIAPLFRELNSTFAEQDPVLKNLSQEIIELLKKLVGLESFSLAFASVQKQASEKRALRKKRKALEFVTNPDIAAKKKLKKHKNKSEAKKRKIEFLRPGYKAKRQKSHSLRDLAMVE", "length": 2788 }, "evidence": [ { "id": "45931633", "url": "http://www.informatics.jax.org/homology/45931633", "database": "MGI" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "Q9W246-1", "protein_name": "Uncharacterized protein", "gene_name": "Dmel\\CG4554", "tax_id": 7227, "organism": "Drosophila melanogaster", "sequence": { "sequence": "MASLAEKTKDTNTFRFKSFGDRVNEIDLRHLALYHIGHRNEELDEEENATYFQQTIQKWNVLNLSEEYNYFSKRCRKIVTLPQLLHQKDFVVDLLLERLSTATNLSQQPLLELLYVLAKDLREEFYPYFQRVLDRLICLLNTQDSEQLEWTLICLAHLFKTLKPYLKRNIGVVFNAILPLLDEQHYAEHVTNFAVECFAYIARDVRDFPRFLTYVLKTVLREQVESVHGCGRLIYEILRGVNGQLHNSAAEIFAHVLEVLVNKDSAHTKDQTELLGDIVEYSLGLLLNFLRSDQSNILWQKLCSAASSESVDEQRVIDLMLPLVTHKDGRYVSELPLVVGTLLKLLDRELDPLQPLTTLVTSLLKAQHTQLSQLDASRLLQKLLSISRKQVTVYEDAILQLLDYSQFEILVLPNVIGYFEEQRQLRARELLARIVLHKRPLKVDGNSLAQWVAYPLQLKQKDTIKLVEQELLHLDLTKEEHLLLIILVPHLRGFNKQPLEQGLQSVIEKLICDNGKDFTQLLLLLQTHALLKFNLPKSLRSSLNGYLIPELGKDIRALACLQVVLLQGPKNELSTSDELLFGIGGLLSQPVSLYRRIAAHCLDVLNSSSKPNPYSHFNAAACIEPTVHNYRELLLQLQQLEPASAQFKQFSQLPHFKEHAVSLLLGLLYNNFKFVWAPVQQLLAAYVKTMTVDEFWTLFKAKLVDTVACIDYKKEVTTLQVPYQRDYQSAALTMLLTLPGEQQLTLQQALNYRQLLWQSVPKLGTLAEVKNADLVRLFLQFVDNEYRAQLEKSEHTWNVNEATAADIDVEEDDENENNETKPEPRGRQKRRTQNAHTKFILQTLQLKLACFVSQPNPKALHRQAEMHDFYLELLAGPNSQLQQLALDCLAAYKQPAALVQQKAQLSGLIDEEKFKTTLSGFELSSITAQQRSELIPFMLRVLYGKMLTKGVQKQLSAQLRKTLILRFLGQLEESEIMDFLQMAFGRFSAYTDKPVDEVAKYARESYDPSAVIAAKQLQRIVNLLELIRKEFAGKLTSDFQCYVLKLLLLVGSVAQEVINGEGKLVAAYKNVKHSGLQTLVNYFGQLVDMEELWQEPQMNAICEVYLWPGIARLSQDSIHTPTPMLKLLLLWGGEPRFQKWLKKSAPADKLPIMHHLMALLLNEKAKPNVKRAILQVVEHLLESAATEEYGAEALSIVHPHIPTILQQLQNSWRHKKAGRQTLDKRELNILTLITSHVEEPDTCELLLQVLLPIFTKQSASAAPETVVQLVTTLGNLLKRVSKPQNYLRQLAPLFEQVSALPARKLLCDLLADMAKQLHKEAKQNPDISPIAASLREWVRIVLLLNAWDKRWLEQPDYDKRLEALSELKQLAEKKDKKIDLQLGVLVVYNCFYMLRNDSDLGMRVNIGELLKPLLPLITLQLEVKEDLHFWLEDTVLPLLQRCMRDEKHEHARSEAIGLLGELARQCPAAHEILKDLSPLTDKYDLEVDFFENMLHLQTQRHGRALQRLVNISGGSWRTVPPCARTLTQFLLPLATRYLMSERHSGKHTLVDAAIEAVGVMSEFLPWTQYQAVLRYYLQKLRHVHSQQKQCVRVVVRILDAFHFDLTQAQTDLVSLAKLKEKLIEAVEAKEPAEESDEVKAEEDAEADEVPVKKEDDQSDFIDFEEEDPNEPVVEQQRTQLLAPNAAKKVMATITTVLLPTLNRSITEKTNYDTKHKVNRRRLSYEREEEEIQRVPIALAMVKLLQKLPLELLENSLPGIFMKVCTFLRSPLKSVRMLTRDILKKIMITLGGSYLGMLLEQLQSLLTRGFQVHVLSVTLHGVLDALKSDLKPEHIENCLQNLLEVALNDIFGDVNAEKEVEKIVAHTPEAKPSAKSYLTLNIAARHIRDNCLLDLLLPFKEHLARSHSRKVTQKIQECFAKIVGGLVENTHIARESLLIFIYGTMSESISDLLPGTKKRQLTEKEQALMKRTRPDCLILQPAPGRRSVATGNKQVKSNAQANAHILVEFGLELLHFVLKRKKLTDLDYQPFLHPLLPLLKDSLSSNHARTTTYALKCYTAIWLGEYELSDLNREALQPVVARMFQILKNFSTFGATRQEENAQLVRASFKAVVALLRKCEDYQLSNEQIEQLLLHIEQELQEGECSSQTMVFTLLKALVGRKVDSRSLHDLMKRLGDLSIISSSDYVRDECRGILLTYIMEYTLRQKVEQIVKFMSVQLCYSQTAGRQSAIQFMHSIINKFPQLMLVKQSEFLYLSLGTRLVNDEDPSCRRSVAAALEALIGRLTKLERQPLLDLTLLFFTAPQSSQKPGVREMAAALLSRFVEAEKAGFAERLPLVLPTLVNVLTLGHAEAGGRFVRAPGYLAAEVDESELHKKNKRKKFKTLPDEDLLLAGLDNESILEQQQRKADHQLIQLQYCLLKIFEHCGESLLNNPQLSDTVDDLAYGSQRLLNHDHNWVRCNAAKLLTHIVAHYDFAYIGQQLSGIKLEAGAKKALYFIYAQPAEDIKSLVLDLCAQVTPGETAQEMIDELSKILLFVGHMLRDVPFSLKQEKNDDEEEREPVNKISLTWLIRNIRFLINKEVAKAPHDISIRTAMFTLIEALSTLLSVESVTRLAPSLLQALVREMSEEDQNVDAELRQQALRVGSRLRKRIGAEVYDKLRNAVQTKLMARRAERRKVVAQEKIHDPERAAKRKAGMQERKKAAKRLKAAVVRGKAPDIKQKLKKRKRKAEMDGF", "length": 2733 }, "evidence": [ { "id": "O75691", "url": "https://omabrowser.org/oma/group/O75691/", "database": "OMA" } ], "common_name": "Fruit fly" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 1, "go_terms": [ { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "O75691", "url": "https://www.uniprot.org/uniprot/O75691" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 7, "go_terms": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "O75691", "url": "https://www.uniprot.org/uniprot/O75691" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "O75691", "url": "https://www.uniprot.org/uniprot/O75691" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "O75691", "url": "https://www.uniprot.org/uniprot/O75691" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "O75691", "url": "https://www.uniprot.org/uniprot/O75691" } ], "pmid": "" }, { "name": "preribosome, small subunit precursor", "id": "GO:0030688", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030688", "evidence": [ { "database": "UniProtKB", "id": "O75691", "url": "https://www.uniprot.org/uniprot/O75691" } ], "pmid": "" }, { "name": "90S preribosome", "id": "GO:0030686", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030686", "evidence": [ { "database": "UniProtKB", "id": "O75691", "url": "https://www.uniprot.org/uniprot/O75691" } ], "pmid": "" }, { "name": "small-subunit processome", "id": "GO:0032040", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032040", "evidence": [ { "database": "UniProtKB", "id": "O75691", "url": "https://www.uniprot.org/uniprot/O75691" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 6, "go_terms": [ { "name": "negative regulation of cell population proliferation", "id": "GO:0008285", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008285", "evidence": [ { "database": "UniProtKB", "id": "O75691", "url": "https://www.uniprot.org/uniprot/O75691" } ], "pmid": "" }, { "name": "endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)", "id": "GO:0000447", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000447", "evidence": [ { "database": "UniProtKB", "id": "O75691", "url": "https://www.uniprot.org/uniprot/O75691" } ], "pmid": "" }, { "name": "endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)", "id": "GO:0000472", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000472", "evidence": [ { "database": "UniProtKB", "id": "O75691", "url": "https://www.uniprot.org/uniprot/O75691" } ], "pmid": "" }, { "name": "endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)", "id": "GO:0000480", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000480", "evidence": [ { "database": "UniProtKB", "id": "O75691", "url": "https://www.uniprot.org/uniprot/O75691" } ], "pmid": "" }, { "name": "rRNA processing", "id": "GO:0006364", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006364", "evidence": [ { "database": "UniProtKB", "id": "O75691", "url": "https://www.uniprot.org/uniprot/O75691" } ], "pmid": "" }, { "name": "ribosomal small subunit biogenesis", "id": "GO:0042274", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042274", "evidence": [ { "database": "UniProtKB", "id": "O75691", "url": "https://www.uniprot.org/uniprot/O75691" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 1022, "end_pos": 1024, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1107, "end_pos": 1109, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1243, "end_pos": 1245, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1492, "end_pos": 1494, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1508, "end_pos": 1510, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1631, "end_pos": 1633, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1990, "end_pos": 1992, "annotation": "n_glycosylation_sequon" }, { "start_pos": 2679, "end_pos": 2681, "annotation": "n_glycosylation_sequon" }, { "start_pos": 2691, "end_pos": 2693, "annotation": "n_glycosylation_sequon" }, { "start_pos": 2752, "end_pos": 2754, "annotation": "n_glycosylation_sequon" }, { "start_pos": 377, "end_pos": 379, "annotation": "n_glycosylation_sequon" }, { "start_pos": 59, "end_pos": 61, "annotation": "n_glycosylation_sequon" }, { "start_pos": 637, "end_pos": 639, "annotation": "n_glycosylation_sequon" }, { "start_pos": 731, "end_pos": 733, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "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": [ 788, 1113, 1115, 1337, 1741, 2064, 2601, 2637 ], "sequon_annotation_sites": [ { "start_pos": 1022, "end_pos": 1024 }, { "start_pos": 1107, "end_pos": 1109 }, { "start_pos": 1243, "end_pos": 1245 }, { "start_pos": 1492, "end_pos": 1494 }, { "start_pos": 1508, "end_pos": 1510 }, { "start_pos": 1631, "end_pos": 1633 }, { "start_pos": 1990, "end_pos": 1992 }, { "start_pos": 2679, "end_pos": 2681 }, { "start_pos": 2691, "end_pos": 2693 }, { "start_pos": 2752, "end_pos": 2754 }, { "start_pos": 377, "end_pos": 379 }, { "start_pos": 59, "end_pos": 61 }, { "start_pos": 637, "end_pos": 639 }, { "start_pos": 731, "end_pos": 733 } ] }, "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": 8 }, { "field": "total_sites", "count": 8 } ], "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": 81 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }