{ "uniprot_canonical_ac": "O95707-1", "uniprot_ac": "O95707", "uniprot_id": "RPP29_HUMAN", "mass": { "chemical_mass": 25425.0, "monoisotopic_mass": 25425.0 }, "refseq": { "ac": "NP_006618", "name": "ribonuclease P protein subunit p29", "summary": "This gene encodes one of the protein subunits of the small nucleolar ribonucleoprotein complexes: the endoribonuclease for mitochondrial RNA processing complex and the ribonuclease P complex. The encoded protein is localized to the nucleus and associates directly with the RNA component of these complexes. This protein is involved in processing of precursor RNAs. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2009].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006618" }, "gene_names": [ { "name": "POP4", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O95707", "id": "O95707" }, { "name": "POP4", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006618", "id": "NP_006618" }, { "name": "RPP29", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006618", "id": "NP_006618" }, { "name": "RPP29", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O95707", "id": "O95707" } ], "protein_names": [ { "name": "Ribonuclease P protein subunit p29", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O95707" }, { "name": "hPOP4", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006618", "id": "NP_006618" }, { "name": "hPOP4", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95707" }, { "name": "ribonuclease P protein subunit p29", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006618", "id": "NP_006618" } ], "function": [ { "annotation": "Collectively, the present results suggest that PhoRpp21 binds the loop between P11 and P12 helices through overall positively charged clusters on the surface of the complex and serves as a scaffold for PhoRpp29 to optimize structural conformation of its N-terminal helix (alpha2) in PhoRpp21, as well as C-terminal residues in PhoRpp29, for RNase P activity.", "evidence": [ { "database": "RefSeq", "id": "NP_006618", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006618" }, { "database": "PubMed", "id": "27810361", "url": "https://glygen.org/publication/PubMed/27810361" } ] }, { "annotation": "Component of ribonuclease P, a ribonucleoprotein complex that generates mature tRNA molecules by cleaving their 5'-ends.", "evidence": [ { "database": "UniProtKB", "id": "O95707", "url": "https://www.uniprot.org/uniprot/O95707#function" }, { "database": "PubMed", "id": "10352175", "url": "https://glygen.org/publication/PubMed/10352175" }, { "database": "PubMed", "id": "10024167", "url": "https://glygen.org/publication/PubMed/10024167" }, { "database": "PubMed", "id": "30454648", "url": "https://glygen.org/publication/PubMed/30454648" }, { "database": "UniProtKB", "id": "K7ERD7", "url": "https://www.uniprot.org/uniprot/K7ERD7#function" }, { "database": "UniProtKB", "id": "ARBA00002435", "url": "https://www.uniprot.org/uniprot/ARBA00002435#function" }, { "database": "UniProtKB", "id": "A0A0A0MQS4", "url": "https://www.uniprot.org/uniprot/A0A0A0MQS4#function" } ] }, { "annotation": "Results demonstrate that Rpp29 promotes homology-directed repair of double-strand breaks. It is rapidly and transiently recruited to laser-microirradiated DNA sites. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_006618", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006618" }, { "database": "PubMed", "id": "28432356", "url": "https://glygen.org/publication/PubMed/28432356" } ] }, { "annotation": "Rpp29 regulates H3.3-mediated epigenetic mechanisms by processing a transcribed signal that recruits H3.3 to its incorporation sites", "evidence": [ { "database": "RefSeq", "id": "NP_006618", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006618" }, { "database": "PubMed", "id": "29921582", "url": "https://glygen.org/publication/PubMed/29921582" } ] }, { "annotation": "This gene encodes one of the protein subunits of the small nucleolar ribonucleoprotein complexes: the endoribonuclease for mitochondrial RNA processing complex and the ribonuclease P complex. The encoded protein is localized to the nucleus and associates directly with the RNA component of these complexes. This protein is involved in processing of precursor RNAs. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2009].", "evidence": [ { "database": "RefSeq", "id": "NP_006618", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006618" } ] } ], "disease": [], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "89.14", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000105171", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105171" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "92.86", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000105171", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105171" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "90.1", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000105171", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105171" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "71.34", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000105171", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105171" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "96.4", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000105171", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105171" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "95.52", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000105171", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105171" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "84.68", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000105171", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105171" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "93.49", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000105171", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105171" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "94.49", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000105171", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105171" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "77.44", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000105171", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105171" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "90.05", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000105171", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105171" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "94.35", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000105171", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105171" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "93.69", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000105171", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105171" } ] } ], "expression_disease": [ { "significant": "No", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O95707", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95707" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "No", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O95707", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95707" } ], "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": "O95707", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95707" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O95707", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95707" } ], "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": "O95707", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95707" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "O95707", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95707" } ], "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": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O95707", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95707" } ], "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": "O95707", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95707" } ], "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": "O95707", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95707" } ], "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": "O95707", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95707" } ], "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": "O95707", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95707" } ], "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": "No", "trend": "up", "name": "Colorectal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:9256", "evidence": [ { "database": "BioXpress", "id": "O95707", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95707" } ], "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": "O95707", "url": "https://www.uniprot.org/uniprot/O95707" } ], "common_name": "Human" } ], "gene": [ { "name": "POP4", "url": "https://www.uniprot.org/uniprot/O95707", "locus": { "chromosome": "19", "start_pos": 29617237, "end_pos": 29606283, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000105171", "url": "https://www.ensembl.org/id/ENSG00000105171" } ] } } ], "crossref": [ { "id": "ENSG00000105171", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105171", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "3.1.26.5", "url": "https://www.brenda-enzymes.org/enzyme.php?ecno=3.1.26.5&UniProtAcc=O95707", "database": "BRENDA", "categories": [ "Enzyme and Pathway" ] }, { "id": "POP4", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=POP4", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "10775", "url": "https://www.ncbi.nlm.nih.gov/gene/10775", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "30081", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=30081", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "O95707", "url": "https://www.ebi.ac.uk/intact/interactors/id:O95707*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR002730", "url": "https://www.ebi.ac.uk/interpro/entry/IPR002730", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR016848", "url": "https://www.ebi.ac.uk/interpro/entry/IPR016848", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR023534", "url": "https://www.ebi.ac.uk/interpro/entry/IPR023534", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036980", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036980", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:10775", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:10775", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "606114", "url": "http://www.omim.org/entry/606114", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O95707", "url": "https://www.nextprot.org/entry/NX_O95707", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "O95707", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O95707", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "IPKSECV", "url": "https://omabrowser.org/oma/group/IPKSECV/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "5483416at2759", "url": "http://www.orthodb.org/?query=5483416at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR13348", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR13348", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR13348:SF0", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR13348:SF0", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "6AHR", "url": "https://www.rcsb.org/structure/6AHR", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6AHU", "url": "https://www.rcsb.org/structure/6AHU", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF01868", "url": "http://pfam.xfam.org/family/PF01868", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O95707", "url": "https://pharos.nih.gov/targets/O95707", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O95707", "url": "http://purl.obolibrary.org/obo/PR_O95707", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-6784531", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6784531", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_006618", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006618", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A0A0A0MQS4", "url": "https://www.uniprot.org/uniprot/A0A0A0MQS4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0A0MQS4-1", "url": "https://www.uniprot.org/uniprot/A0A0A0MQS4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7EK50", "url": "https://www.uniprot.org/uniprot/K7EK50", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7EK50-1", "url": "https://www.uniprot.org/uniprot/K7EK50-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7EQV2", "url": "https://www.uniprot.org/uniprot/K7EQV2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7EQV2-1", "url": "https://www.uniprot.org/uniprot/K7EQV2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7ERD7", "url": "https://www.uniprot.org/uniprot/K7ERD7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7ERD7-1", "url": "https://www.uniprot.org/uniprot/K7ERD7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7ESH8", "url": "https://www.uniprot.org/uniprot/K7ESH8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7ESH8-1", "url": "https://www.uniprot.org/uniprot/K7ESH8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95707", "url": "https://www.uniprot.org/uniprot/O95707", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95707-1", "url": "https://www.uniprot.org/uniprot/O95707-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MKSVIYHALSQKEANDSDVQPSGAQRAEAFVRAFLKRSTPRMSPQAREDQLQRKAVVLEYFTRHKRKEKKKKAKGLSARQRRELRLFDIKPEQQRYSLFLPLHELWKQYIRDLCSGLKPDTQPQMIQAKLLKADLHGAIISVTKSKCPSYVGITGILLQETKHIFKIITKEDRLKVIPKLNCVFTVETDGFISYIYGSKFQLRSSERSAKKFKAKGTIDL", "length": 220, "header": "sp|O95707-1|RPP29_HUMAN Isoform 1 of Ribonuclease P protein subunit p29 OS=Homo sapiens OX=9606 GN=POP4 PE=1 SV=2 CANONICAL=O95707-1" }, "isoforms": [ { "isoform_ac": "A0A0A0MQS4-1", "url": "", "sequence": { "sequence": "MIQAKLLKADLHGAIISVTKSKCPSYVGITGILLQETKHIFKIITKEDRLKVIPKLNCVFTVETDGFISYIYGSKFQLRSSERSAKKFKAKGTIDL", "length": 96, "header": "tr|A0A0A0MQS4-1|RPP29_HUMAN Computationally mapped isoform of Ribonuclease P protein subunit p29 OS=Homo sapiens OX=9606 GN=POP4 PE=1 SV=1 CANONICAL=O95707-1" }, "locus": { "chromosome": "19", "start_pos": 29615377, "end_pos": 29612127, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000221770.7", "url": "https://www.ensembl.org/id/ENST00000221770.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000221770.3", "url": "https://www.ensembl.org/id/ENSP00000221770.3" } ] } }, { "isoform_ac": "K7EK50-1", "url": "", "sequence": { "sequence": "MKSVIYHALSQKEANDSDVQVSSWQGVQEQQSLQEHSGPRPS", "length": 42, "header": "tr|K7EK50-1|K7EK50_HUMAN Computationally mapped isoform of POP4 homolog, ribonuclease P/MRP subunit OS=Homo sapiens OX=9606 GN=POP4 PE=1 SV=1 CANONICAL=O95707-1" }, "locus": { "chromosome": "19", "start_pos": 29610439, "end_pos": 29606319, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000586823.5", "url": "https://www.ensembl.org/id/ENST00000586823.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000465456.1", "url": "https://www.ensembl.org/id/ENSP00000465456.1" } ] } }, { "isoform_ac": "K7EQV2-1", "url": "", "sequence": { "sequence": "MGPGYLLLRSPNRTATGMGPPYLRKTEGWSTGVIYHALSQKEANDSDVQPSGAQRAEAFVRAFLKRSTPRMSPQAREDQLQRKAVVLEYFTRHKRKEKKKKAKGLSARQRRELRLFDIKPEQQRYSLFLPLHELWKQYIRDLCSGLKPDT", "length": 150, "header": "tr|K7EQV2-1|K7EQV2_HUMAN Computationally mapped isoform of POP4 homolog, ribonuclease P/MRP subunit OS=Homo sapiens OX=9606 GN=POP4 PE=1 SV=1 CANONICAL=O95707-1" }, "locus": { "chromosome": "19", "start_pos": 29611939, "end_pos": 29606396, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000590688.1", "url": "https://www.ensembl.org/id/ENST00000590688.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000467990.1", "url": "https://www.ensembl.org/id/ENSP00000467990.1" } ] } }, { "isoform_ac": "K7ERD7-1", "url": "", "sequence": { "sequence": "MKSVIYHALSQKEANDSDVQPSGAQRAEAFVRAFLKRSTPRMSPQAREDQLQRKAVVLEYFTRHKRKEKKKKAKGLSARQRRELRLFDIKPEQQSLFLPLHELWKQYIRDLCSGLKPDTQPQMIQAKLLKADLHGAIISVTKSKCPSYVGITGILLQETKHIFKIITKEDRLKVIPKLNCV", "length": 181, "header": "tr|K7ERD7-1|K7ERD7_HUMAN Computationally mapped isoform of Ribonuclease P protein subunit p29 OS=Homo sapiens OX=9606 GN=POP4 PE=1 SV=1 CANONICAL=O95707-1" }, "locus": { "chromosome": "19", "start_pos": 29615266, "end_pos": 29606319, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000586420.5", "url": "https://www.ensembl.org/id/ENST00000586420.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000468215.1", "url": "https://www.ensembl.org/id/ENSP00000468215.1" } ] } }, { "isoform_ac": "K7ESH8-1", "url": "", "sequence": { "sequence": "MKSVIYHALSQKEANDSDVQPSGAQRAEAFVRAFLKRSHR", "length": 40, "header": "tr|K7ESH8-1|RPP29_HUMAN Computationally mapped isoform of Ribonuclease P protein subunit p29 OS=Homo sapiens OX=9606 GN=POP4 PE=1 SV=1 CANONICAL=O95707-1" }, "locus": { "chromosome": "19", "start_pos": 29612127, "end_pos": 29606319, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000591061.5", "url": "https://www.ensembl.org/id/ENST00000591061.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000468718.1", "url": "https://www.ensembl.org/id/ENSP00000468718.1" } ] } }, { "isoform_ac": "O95707-1", "url": "", "sequence": { "sequence": "MKSVIYHALSQKEANDSDVQPSGAQRAEAFVRAFLKRSTPRMSPQAREDQLQRKAVVLEYFTRHKRKEKKKKAKGLSARQRRELRLFDIKPEQQRYSLFLPLHELWKQYIRDLCSGLKPDTQPQMIQAKLLKADLHGAIISVTKSKCPSYVGITGILLQETKHIFKIITKEDRLKVIPKLNCVFTVETDGFISYIYGSKFQLRSSERSAKKFKAKGTIDL", "length": 220, "header": "sp|O95707-1|RPP29_HUMAN Isoform 1 of Ribonuclease P protein subunit p29 OS=Homo sapiens OX=9606 GN=POP4 PE=1 SV=2 CANONICAL=O95707-1" }, "locus": { "chromosome": "19", "start_pos": 29615377, "end_pos": 29606319, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000585603.6", "url": "https://www.ensembl.org/id/ENST00000585603.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000465213.1", "url": "https://www.ensembl.org/id/ENSP00000465213.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "O95707", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O95707" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" }, { "id": "36580660", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36580660" } ] } ], "phosphorylation": [ { "start_pos": 10, "end_pos": 10, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O95707", "url": "https://www.uniprot.org/uniprot/O95707" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "PubMed", "id": "17525332", "url": "https://glygen.org/publication/PubMed/17525332" }, { "database": "iPTMnet", "id": "O95707", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95707" }, { "database": "PubMed", "id": "18077418", "url": "https://glygen.org/publication/PubMed/18077418" }, { "database": "phospho.ELM", "id": "O95707", "url": "http://phospho.elm.eu.org/byAccession/O95707.html" }, { "database": "PubMed", "id": "28432356", "url": "https://glygen.org/publication/PubMed/28432356" } ], "site_lbl": "Ser10" }, { "start_pos": 145, "end_pos": 145, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O95707", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95707" }, { "database": "PubMed", "id": "17924679", "url": "https://glygen.org/publication/PubMed/17924679" } ], "site_lbl": "Ser145" }, { "start_pos": 150, "end_pos": 150, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O95707", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95707" }, { "database": "PubMed", "id": "17924679", "url": "https://glygen.org/publication/PubMed/17924679" } ], "site_lbl": "Tyr150" }, { "start_pos": 161, "end_pos": 161, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O95707", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95707" }, { "database": "PubMed", "id": "17924679", "url": "https://glygen.org/publication/PubMed/17924679" } ], "site_lbl": "Thr161" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Rpp14 and Rpp29, two protein subunits of human ribonuclease P.", "journal": "RNA (New York, N.Y.)", "date": "1999-02", "authors": "Jarrous N, Eder P S, Wesolowski D, Altman S", "evidence": [ { "database": "UniProtKB", "id": "O95707", "url": "https://www.uniprot.org/uniprot/O95707" } ], "reference": [ { "type": "PubMed", "id": "10024167", "url": "https://glygen.org/publication/PubMed/10024167" } ] }, { "title": "hPop4: a new protein subunit of the human RNase MRP and RNase P ribonucleoprotein complexes.", "journal": "Nucleic acids research", "date": "1999-06-15", "authors": "van Eenennaam H, Pruijn G J, van Venrooij W J", "evidence": [ { "database": "UniProtKB", "id": "O95707", "url": "https://www.uniprot.org/uniprot/O95707" } ], "reference": [ { "type": "PubMed", "id": "10352175", "url": "https://glygen.org/publication/PubMed/10352175" } ] }, { "title": "Localization in the nucleolus and coiled bodies of protein subunits of the ribonucleoprotein ribonuclease P.", "journal": "J. Cell Biol.", "date": "1999", "authors": "Jarrous N, Wolenski JS, Wesolowski D, Lee C, Altman S", "evidence": [ { "database": "UniProtKB", "id": "O95707", "url": "https://www.uniprot.org/uniprot/O95707" }, { "database": "Reactome", "id": "R-HSA-6784531", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6784531" } ], "reference": [ { "type": "PubMed", "id": "10444065", "url": "https://glygen.org/publication/PubMed/10444065" } ] }, { "title": "Protein-RNA interactions in the subunits of human nuclear RNase P.", "journal": "RNA (New York, N.Y.)", "date": "2001", "authors": "Jiang T, Guerrier-Takada C, Altman S", "evidence": [ { "database": "Reactome", "id": "R-HSA-6784531", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6784531" } ], "reference": [ { "type": "PubMed", "id": "11455963", "url": "https://glygen.org/publication/PubMed/11455963" } ] }, { "title": "A eubacterial origin for the human tRNA nucleotidyltransferase?", "journal": "Biological chemistry", "date": "2001", "authors": "Reichert AS, Thurlow DL, Morl M", "evidence": [ { "database": "Reactome", "id": "R-HSA-6784531", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6784531" } ], "reference": [ { "type": "PubMed", "id": "11727826", "url": "https://glygen.org/publication/PubMed/11727826" } ] }, { "title": "Human ribonuclease P: subunits, function, and intranuclear localization.", "journal": "RNA (New York, N.Y.)", "date": "2002", "authors": "Jarrous N", "evidence": [ { "database": "Reactome", "id": "R-HSA-6784531", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6784531" } ], "reference": [ { "type": "PubMed", "id": "11871657", "url": "https://glygen.org/publication/PubMed/11871657" } ] }, { "title": "Steady-state nuclear localization of exportin-t involves RanGTP binding and two distinct nuclear pore complex interaction domains.", "journal": "Molecular and cellular biology", "date": "2002", "authors": "Kuersten S, Arts GJ, Walther TC, Englmeier L, Mattaj IW", "evidence": [ { "database": "Reactome", "id": "R-HSA-6784531", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6784531" } ], "reference": [ { "type": "PubMed", "id": "12138183", "url": "https://glygen.org/publication/PubMed/12138183" } ] }, { "title": "Crystal structures of the Bacillus stearothermophilus CCA-adding enzyme and its complexes with ATP or CTP.", "journal": "Cell", "date": "2002", "authors": "Li F, Xiong Y, Wang J, Cho HD, Tomita K, Weiner AM, Steitz TA", "evidence": [ { "database": "Reactome", "id": "R-HSA-6784531", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6784531" } ], "reference": [ { "type": "PubMed", "id": "12526808", "url": "https://glygen.org/publication/PubMed/12526808" } ] }, { "title": "A candidate prostate cancer susceptibility gene encodes tRNA 3' processing endoribonuclease.", "journal": "Nucleic acids research", "date": "2003", "authors": "Takaku H, Minagawa A, Takagi M, Nashimoto M", "evidence": [ { "database": "Reactome", "id": "R-HSA-6784531", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6784531" } ], "reference": [ { "type": "PubMed", "id": "12711671", "url": "https://glygen.org/publication/PubMed/12711671" } ] }, { "title": "Crystal structure of the human CCA-adding enzyme: insights into template-independent polymerization.", "journal": "Journal of molecular biology", "date": "2003", "authors": "Augustin MA, Reichert AS, Betat H, Huber R, Morl M, Steegborn C", "evidence": [ { "database": "Reactome", "id": "R-HSA-6784531", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6784531" } ], "reference": [ { "type": "PubMed", "id": "12729736", "url": "https://glygen.org/publication/PubMed/12729736" } ] }, { "title": "Mutual interactions between subunits of the human RNase MRP ribonucleoprotein complex.", "journal": "Nucleic Acids Res.", "date": "2004", "authors": "Welting TJ, van Venrooij WJ, Pruijn GJ", "evidence": [ { "database": "UniProtKB", "id": "O95707", "url": "https://www.uniprot.org/uniprot/O95707" } ], "reference": [ { "type": "PubMed", "id": "15096576", "url": "https://glygen.org/publication/PubMed/15096576" } ] }, { "title": "Identification of a human endonuclease complex reveals a link between tRNA splicing and pre-mRNA 3' end formation.", "journal": "Cell", "date": "2004", "authors": "Paushkin SV, Patel M, Furia BS, Peltz SW, Trotta CR", "evidence": [ { "database": "Reactome", "id": "R-HSA-6784531", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6784531" } ], "reference": [ { "type": "PubMed", "id": "15109492", "url": "https://glygen.org/publication/PubMed/15109492" } ] }, { "title": "The N-terminal half-domain of the long form of tRNase Z is required for the RNase 65 activity.", "journal": "Nucleic acids research", "date": "2004", "authors": "Takaku H, Minagawa A, Takagi M, Nashimoto M", "evidence": [ { "database": "Reactome", "id": "R-HSA-6784531", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6784531" } ], "reference": [ { "type": "PubMed", "id": "15317868", "url": "https://glygen.org/publication/PubMed/15317868" } ] }, { "title": "Naturally occurring mutations in human mitochondrial pre-tRNASer(UCN) can affect the transfer ribonuclease Z cleavage site, processing kinetics, and substrate secondary structure.", "journal": "The Journal of biological chemistry", "date": "2006", "authors": "Yan H, Zareen N, Levinger L", "evidence": [ { "database": "Reactome", "id": "R-HSA-6784531", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6784531" } ], "reference": [ { "type": "PubMed", "id": "16361254", "url": "https://glygen.org/publication/PubMed/16361254" } ] }, { "title": "Cleavage of pre-tRNAs by the splicing endonuclease requires a composite active site.", "journal": "Nature", "date": "2006", "authors": "Trotta CR, Paushkin SV, Patel M, Li H, Peltz SW", "evidence": [ { "database": "Reactome", "id": "R-HSA-6784531", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6784531" } ], "reference": [ { "type": "PubMed", "id": "16710424", "url": "https://glygen.org/publication/PubMed/16710424" } ] }, { "title": "Differential association of protein subunits with the human RNase MRP and RNase P complexes.", "journal": "RNA", "date": "2006", "authors": "Welting TJ, Kikkert BJ, van Venrooij WJ, Pruijn GJ", "evidence": [ { "database": "UniProtKB", "id": "O95707", "url": "https://www.uniprot.org/uniprot/O95707" } ], "reference": [ { "type": "PubMed", "id": "16723659", "url": "https://glygen.org/publication/PubMed/16723659" } ] }, { "title": "A splice variant of the human CCA-adding enzyme with modified activity.", "journal": "Journal of molecular biology", "date": "2007", "authors": "Lizano E, Schuster J, Muller M, Kelso J, Morl M", "evidence": [ { "database": "Reactome", "id": "R-HSA-6784531", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6784531" } ], "reference": [ { "type": "PubMed", "id": "17204286", "url": "https://glygen.org/publication/PubMed/17204286" } ] }, { "title": "Interaction of immobilized human exportin-t with calf liver tRNA.", "journal": "RNA biology", "date": "2006", "authors": "Li S, Sprinzl M", "evidence": [ { "database": "Reactome", "id": "R-HSA-6784531", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6784531" } ], "reference": [ { "type": "PubMed", "id": "17224653", "url": "https://glygen.org/publication/PubMed/17224653" } ] }, { "title": "ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage.", "journal": "Science (New York, N.Y.)", "date": "2007", "authors": "Matsuoka S, Ballif BA, Smogorzewska A, McDonald ER 3rd, Hurov KE, Luo J, Bakalarski CE, Zhao Z, Solimini N, Lerenthal Y, Shiloh Y, Gygi SP, Elledge SJ", "evidence": [ { "database": "UniProtKB", "id": "O95707", "url": "https://www.uniprot.org/uniprot/O95707" }, { "database": "iPTMnet", "id": "O95707", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95707" } ], "reference": [ { "type": "PubMed", "id": "17525332", "url": "https://glygen.org/publication/PubMed/17525332" } ] }, { "title": "Improved titanium dioxide enrichment of phosphopeptides from HeLa cells and high confident phosphopeptide identification by cross-validation of MS/MS and MS/MS/MS spectra.", "journal": "Journal of proteome research", "date": "2007", "authors": "Yu LR, Zhu Z, Chan KC, Issaq HJ, Dimitrov DS, Veenstra TD", "evidence": [ { "database": "iPTMnet", "id": "O95707", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95707" } ], "reference": [ { "type": "PubMed", "id": "17924679", "url": "https://glygen.org/publication/PubMed/17924679" } ] }, { "title": "Profiling of UV-induced ATM/ATR signaling pathways.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2007", "authors": "Stokes MP, Rush J, Macneill J, Ren JM, Sprott K, Nardone J, Yang V, Beausoleil SA, Gygi SP, Livingstone M, Zhang H, Polakiewicz RD, Comb MJ", "evidence": [ { "database": "iPTMnet", "id": "O95707", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95707" } ], "reference": [ { "type": "PubMed", "id": "18077418", "url": "https://glygen.org/publication/PubMed/18077418" } ] }, { "title": "A comparative analysis of CCA-adding enzymes from human and E. coli: differences in CCA addition and tRNA 3'-end repair.", "journal": "Biochimie", "date": "2008", "authors": "Lizano E, Scheibe M, Rammelt C, Betat H, Morl M", "evidence": [ { "database": "Reactome", "id": "R-HSA-6784531", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6784531" } ], "reference": [ { "type": "PubMed", "id": "18226598", "url": "https://glygen.org/publication/PubMed/18226598" } ] }, { "title": "Functional analyses for tRNase Z variants: an aspartate and a histidine in the active site are essential for the catalytic activity.", "journal": "Biochimica et biophysica acta", "date": "2008", "authors": "Elbarbary RA, Takaku H, Nashimoto M", "evidence": [ { "database": "Reactome", "id": "R-HSA-6784531", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6784531" } ], "reference": [ { "type": "PubMed", "id": "18809514", "url": "https://glygen.org/publication/PubMed/18809514" } ] }, { "title": "RNase P without RNA: identification and functional reconstitution of the human mitochondrial tRNA processing enzyme.", "journal": "Cell", "date": "2008", "authors": "Holzmann J, Frank P, Loffler E, Bennett KL, Gerner C, Rossmanith W", "evidence": [ { "database": "Reactome", "id": "R-HSA-6784531", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6784531" } ], "reference": [ { "type": "PubMed", "id": "18984158", "url": "https://glygen.org/publication/PubMed/18984158" } ] }, { "title": "HSPC117 is the essential subunit of a human tRNA splicing ligase complex.", "journal": "Science (New York, N.Y.)", "date": "2011", "authors": "Popow J, Englert M, Weitzer S, Schleiffer A, Mierzwa B, Mechtler K, Trowitzsch S, Will CL, Luhrmann R, Soll D, Martinez J", "evidence": [ { "database": "Reactome", "id": "R-HSA-6784531", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6784531" } ], "reference": [ { "type": "PubMed", "id": "21311021", "url": "https://glygen.org/publication/PubMed/21311021" } ] }, { "title": "RNA binding properties of conserved protein subunits of human RNase P.", "journal": "Nucleic acids research", "date": "2011", "authors": "Reiner R, Alfiya-Mor N, Berrebi-Demma M, Wesolowski D, Altman S, Jarrous N", "evidence": [ { "database": "Reactome", "id": "R-HSA-6784531", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6784531" } ], "reference": [ { "type": "PubMed", "id": "21450806", "url": "https://glygen.org/publication/PubMed/21450806" } ] }, { "title": "Localization of human RNase Z isoforms: dual nuclear/mitochondrial targeting of the ELAC2 gene product by alternative translation initiation.", "journal": "PloS one", "date": "2011", "authors": "Rossmanith W", "evidence": [ { "database": "Reactome", "id": "R-HSA-6784531", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6784531" } ], "reference": [ { "type": "PubMed", "id": "21559454", "url": "https://glygen.org/publication/PubMed/21559454" } ] }, { "title": "Involvement of human ELAC2 gene product in 3' end processing of mitochondrial tRNAs.", "journal": "RNA biology", "date": "2011", "authors": "Brzezniak LK, Bijata M, Szczesny RJ, Stepien PP", "evidence": [ { "database": "Reactome", "id": "R-HSA-6784531", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6784531" } ], "reference": [ { "type": "PubMed", "id": "21593607", "url": "https://glygen.org/publication/PubMed/21593607" } ] }, { "title": "Exportin t and Exportin 5: tRNA and miRNA biogenesis - and beyond.", "journal": "Biological chemistry", "date": "2012", "authors": "Leisegang MS, Martin R, Ramirez AS, Bohnsack MT", "evidence": [ { "database": "Reactome", "id": "R-HSA-6784531", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6784531" } ], "reference": [ { "type": "PubMed", "id": "22944664", "url": "https://glygen.org/publication/PubMed/22944664" } ] }, { "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": "O95707", "url": "https://www.uniprot.org/uniprot/O95707" }, { "database": "iPTMnet", "id": "O95707", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95707" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "Identification and characterization of an RNA molecule that copurifies with RNase P activity from HeLa cells.", "journal": "Genes & development", "date": "1989", "authors": "Bartkiewicz M, Gold H, Altman S", "evidence": [ { "database": "Reactome", "id": "R-HSA-6784531", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6784531" } ], "reference": [ { "type": "PubMed", "id": "2470644", "url": "https://glygen.org/publication/PubMed/2470644" } ] }, { "title": "Analysis of orthologous groups reveals archease and DDX1 as tRNA splicing factors.", "journal": "Nature", "date": "2014", "authors": "Popow J, Jurkin J, Schleiffer A, Martinez J", "evidence": [ { "database": "Reactome", "id": "R-HSA-6784531", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6784531" } ], "reference": [ { "type": "PubMed", "id": "24870230", "url": "https://glygen.org/publication/PubMed/24870230" } ] }, { "title": "On-enzyme refolding permits small RNA and tRNA surveillance by the CCA-adding enzyme.", "journal": "Cell", "date": "2015", "authors": "Kuhn CD, Wilusz JE, Zheng Y, Beal PA, Joshua-Tor L", "evidence": [ { "database": "Reactome", "id": "R-HSA-6784531", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6784531" } ], "reference": [ { "type": "PubMed", "id": "25640237", "url": "https://glygen.org/publication/PubMed/25640237" } ] }, { "title": "Domain movements during CCA-addition: a new function for motif C in the catalytic core of the human tRNA nucleotidyltransferases.", "journal": "RNA biology", "date": "2015", "authors": "Ernst FG, Rickert C, Bluschke A, Betat H, Steinhoff HJ, Morl M", "evidence": [ { "database": "Reactome", "id": "R-HSA-6784531", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6784531" } ], "reference": [ { "type": "PubMed", "id": "25849199", "url": "https://glygen.org/publication/PubMed/25849199" } ] }, { "title": "Functional characterization of archaeal homologs of human nuclear RNase P proteins Rpp21 and Rpp29 provides insights into the molecular basis of their cooperativity in catalysis.", "journal": "Biochemical and biophysical research communications", "date": "2017", "authors": "Jiang D, Izumi K, Ueda T, Oshima K, Nakashima T, Kimura M", "evidence": [ { "database": "RefSeq", "id": "NP_006618", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006618" } ], "reference": [ { "type": "PubMed", "id": "27810361", "url": "https://glygen.org/publication/PubMed/27810361" } ] }, { "title": "A role of human RNase P subunits, Rpp29 and Rpp21, in homology directed-repair of double-strand breaks.", "journal": "Scientific reports", "date": "2017", "authors": "Abu-Zhayia ER, Khoury-Haddad H, Guttmann-Raviv N, Serruya R, Jarrous N, Ayoub N", "evidence": [ { "database": "RefSeq", "id": "NP_006618", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006618" }, { "database": "iPTMnet", "id": "O95707", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95707" } ], "reference": [ { "type": "PubMed", "id": "28432356", "url": "https://glygen.org/publication/PubMed/28432356" } ] }, { "title": "Synthesis of a Highly Azide-Reactive and Thermosensitive Biofunctional Reagent for Efficient Enrichment and Large-Scale Identification of O-GlcNAc Proteins by Mass Spectrometry.", "journal": "Analytical chemistry", "date": "2017", "authors": "Zhang W, Liu T, Dong H, Bai H, Tian F, Shi Z, Chen M, Wang J, Qin W, Qian X", "evidence": [ { "database": "O-GlcNAc Database", "id": "O95707", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O95707" } ], "reference": [ { "type": "PubMed", "id": "28510447", "url": "https://glygen.org/publication/PubMed/28510447" } ] }, { "title": "Rpp29 regulates histone H3.3 chromatin assembly through transcriptional mechanisms.", "journal": "The Journal of biological chemistry", "date": "2018", "authors": "Shastrula PK, Lund PJ, Garcia BA, Janicki SM", "evidence": [ { "database": "RefSeq", "id": "NP_006618", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006618" } ], "reference": [ { "type": "PubMed", "id": "29921582", "url": "https://glygen.org/publication/PubMed/29921582" } ] }, { "title": "Cryo-EM Structure of the Human Ribonuclease P Holoenzyme.", "journal": "Cell", "date": "2018", "authors": "Wu J, Niu S, Tan M, Huang C, Li M, Song Y, Wang Q, Chen J, Shi S, Lan P, Lei M", "evidence": [ { "database": "UniProtKB", "id": "O95707", "url": "https://www.uniprot.org/uniprot/O95707" } ], "reference": [ { "type": "PubMed", "id": "30454648", "url": "https://glygen.org/publication/PubMed/30454648" } ] }, { "title": "Multi-comparative Thermal Proteome Profiling Uncovers New O-GlcNAc Proteins in a System-wide Method.", "journal": "Analytical chemistry", "date": "2022-12-29", "authors": "Wang Guoli, Li Yang, Wang Ting, Wang Jun, Yao Jun, Yan Guoquan, Zhang Ying, Lu Haojie", "evidence": [ { "database": "O-GlcNAc Database", "id": "O95707", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O95707" } ], "reference": [ { "type": "PubMed", "id": "36580660", "url": "https://glygen.org/publication/PubMed/36580660" } ] }, { "title": "Specific RNA-cleaving activities from HeLa cells.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1980", "authors": "Ferrari S, Yehle CO, Robertson HD, Dickson E", "evidence": [ { "database": "Reactome", "id": "R-HSA-6784531", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6784531" } ], "reference": [ { "type": "PubMed", "id": "6930639", "url": "https://glygen.org/publication/PubMed/6930639" } ] }, { "title": "Human mitochondrial tRNA processing.", "journal": "The Journal of biological chemistry", "date": "1995", "authors": "Rossmanith W, Tullo A, Potuschak T, Karwan R, Sbisa E", "evidence": [ { "database": "Reactome", "id": "R-HSA-6784531", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6784531" } ], "reference": [ { "type": "PubMed", "id": "7759547", "url": "https://glygen.org/publication/PubMed/7759547" } ] }, { "title": "Substrate recognition by human RNase P: identification of small, model substrates for the enzyme.", "journal": "The EMBO journal", "date": "1995", "authors": "Yuan Y, Altman S", "evidence": [ { "database": "Reactome", "id": "R-HSA-6784531", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6784531" } ], "reference": [ { "type": "PubMed", "id": "7828588", "url": "https://glygen.org/publication/PubMed/7828588" } ] }, { "title": "Identification of a nuclear export receptor for tRNA.", "journal": "Current biology : CB", "date": "1998", "authors": "Arts GJ, Fornerod M, Mattaj IW", "evidence": [ { "database": "Reactome", "id": "R-HSA-6784531", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6784531" } ], "reference": [ { "type": "PubMed", "id": "9512417", "url": "https://glygen.org/publication/PubMed/9512417" } ] }, { "title": "Identification of a tRNA-specific nuclear export receptor.", "journal": "Molecular cell", "date": "1998", "authors": "Kutay U, Lipowsky G, Izaurralde E, Bischoff FR, Schwarzmaier P, Hartmann E, Gorlich D", "evidence": [ { "database": "Reactome", "id": "R-HSA-6784531", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6784531" } ], "reference": [ { "type": "PubMed", "id": "9660920", "url": "https://glygen.org/publication/PubMed/9660920" } ] } ], "pathway": [ { "id": "hsa:10775", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:10775", "resource": "KEGG Pathway" }, { "id": "R-HSA-6784531", "name": "tRNA processing in the nucleus", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6784531", "resource": "Reactome", "description": "tRNA processing in the nucleus" } ], "orthologs": [ { "uniprot_canonical_ac": "Q5M882-1", "protein_name": "Ribonuclease P protein subunit p29", "gene_name": "Pop4", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MKAVIYHAFSHKEAKDHDVQELGTQRAEAFVRAFLKQSIPHMSQQDCESHLQRKAVILEYFTRLKPKPRPKKKSKGLSAKQRRELRLFDIKPEQQRYSLFLPLHELWKQYIRDLCNGLKPDTQPQMIQAKLLKADLHGAVISVTKSKCPSYVGVTGILLQETKHVFKIITKEDHLKVIPKQNCVFTIEIDDFISYIYGSKFQLRASERSAKKFKAKGTIDL", "length": 221 }, "evidence": [ { "id": "45930160", "url": "http://www.informatics.jax.org/homology/45930160", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q9CR08-1", "protein_name": "Ribonuclease P protein subunit p29", "gene_name": "Pop4", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MKAAIYHAFSHKEAKDHDVQELGSQRAEAFVRAFLKQSIPHMSQEDCESHLQRKAVILEYFTRLKPRPRPKKKSKGLSAKQRRDMRLFDIKPEQQRYSLFLPLHELWKQYIRDLCNGLKPDTQPQMIQAKLLKADLHGAIISVTKSKCPSYVGVTGILLQETKHVFKIITREDHLKVIPKLNCVFTIEIDDFISYIYGSKFQLRASERSAKKFKAKGSIDL", "length": 221 }, "evidence": [ { "id": "45930160", "url": "http://www.informatics.jax.org/homology/45930160", "database": "MGI" }, { "id": "O95707", "url": "https://omabrowser.org/oma/group/O95707/", "database": "OMA" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "Q9VSC6-1", "protein_name": "Ribonuclease P protein subunit p29", "gene_name": "Pop4", "tax_id": 7227, "organism": "Drosophila melanogaster", "sequence": { "sequence": "MEHATSELREFISDLVIPHQRCNVNINPDHITMLEGTKIKKQHSRKRRAHKSSTLSRREYAALGLNTLPTKQMKYEEALPLHHLWKGYVREHLELREGDEVPQVHDARYDEFSRKLVKLDLHGAKMKVLQSKCSTLENLAGICVMDTKNVLKLLGKDHRLRTIPKSECVFGMKVGNMEFTIFGQHLNIRPAERSVKKIKNFVKPFM", "length": 206 }, "evidence": [ { "id": "O95707", "url": "https://omabrowser.org/oma/group/O95707/", "database": "OMA" } ], "common_name": "Fruit fly" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 2, "go_terms": [ { "name": "ribonuclease P RNA binding", "id": "GO:0033204", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033204", "evidence": [ { "database": "UniProtKB", "id": "O95707", "url": "https://www.uniprot.org/uniprot/O95707" } ], "pmid": "" }, { "name": "ribonuclease P activity", "id": "GO:0004526", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004526", "evidence": [ { "database": "UniProtKB", "id": "O95707", "url": "https://www.uniprot.org/uniprot/O95707" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 2, "go_terms": [ { "name": "tRNA 5'-leader removal", "id": "GO:0001682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001682", "evidence": [ { "database": "UniProtKB", "id": "O95707", "url": "https://www.uniprot.org/uniprot/O95707" } ], "pmid": "" }, { "name": "rRNA processing", "id": "GO:0006364", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006364", "evidence": [ { "database": "UniProtKB", "id": "O95707", "url": "https://www.uniprot.org/uniprot/O95707" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 5, "go_terms": [ { "name": "ribonuclease MRP complex", "id": "GO:0000172", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000172", "evidence": [ { "database": "UniProtKB", "id": "O95707", "url": "https://www.uniprot.org/uniprot/O95707" } ], "pmid": "" }, { "name": "ribonuclease P complex", "id": "GO:0030677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030677", "evidence": [ { "database": "UniProtKB", "id": "O95707", "url": "https://www.uniprot.org/uniprot/O95707" } ], "pmid": "" }, { "name": "multimeric ribonuclease P complex", "id": "GO:0030681", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030681", "evidence": [ { "database": "UniProtKB", "id": "O95707", "url": "https://www.uniprot.org/uniprot/O95707" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "O95707", "url": "https://www.uniprot.org/uniprot/O95707" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "O95707", "url": "https://www.uniprot.org/uniprot/O95707" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 15, "end_pos": 17, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [], "snv_sites": [], "glycation_sites": [], "phosphorylation_sites": [ 10, 145, 150, 161 ], "sequon_annotation_sites": [ { "start_pos": 15, "end_pos": 17 } ] }, "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": 4 }, { "field": "total_sites", "count": 4 } ], "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": 45 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }