{ "uniprot_canonical_ac": "Q9Y5J1-1", "uniprot_ac": "Q9Y5J1", "uniprot_id": "UTP18_HUMAN", "mass": { "chemical_mass": 62004.0, "monoisotopic_mass": 62004.0 }, "refseq": { "ac": "NP_057085", "name": "U3 small nucleolar RNA-associated protein 18 homolog", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057085" }, "gene_names": [ { "name": "UTP18", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q9Y5J1", "id": "Q9Y5J1" }, { "name": "CDABP0061", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q9Y5J1", "id": "Q9Y5J1" }, { "name": "CGI-48; WDR50", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057085", "id": "NP_057085" }, { "name": "CGI-48", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q9Y5J1", "id": "Q9Y5J1" }, { "name": "UTP18", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057085", "id": "NP_057085" }, { "name": "WDR50", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q9Y5J1", "id": "Q9Y5J1" } ], "protein_names": [ { "name": "U3 small nucleolar RNA-associated protein 18 homolog", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q9Y5J1" }, { "name": "U3 small nucleolar RNA-associated protein 18 homolog", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057085", "id": "NP_057085" }, { "name": "WD repeat domain 50; WD repeat-containing protein 50; UTP18, small subunit (SSU) processome component, homolog", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057085", "id": "NP_057085" }, { "name": "WD repeat-containing protein 50", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9Y5J1" } ], "function": [ { "annotation": "Part of the small subunit (SSU) processome, first precursor of the small eukaryotic ribosomal subunit. During the assembly of the SSU processome in the nucleolus, many ribosome biogenesis factors, an RNA chaperone and ribosomal proteins associate with the nascent pre-rRNA and work in concert to generate RNA folding, modifications, rearrangements and cleavage as well as targeted degradation of pre-ribosomal RNA by the RNA exosome. Involved in nucleolar processing of pre-18S ribosomal RNA.", "evidence": [ { "database": "UniProtKB", "id": "Q9Y5J1", "url": "https://www.uniprot.org/uniprot/Q9Y5J1#function" }, { "database": "PubMed", "id": "34516797", "url": "https://glygen.org/publication/PubMed/34516797" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs267604957", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs267604957" }, { "id": "rs267604957", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs267604957" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 135, "end_pos": 135, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NFP->NFS).", "chr_id": "17", "chr_pos": "51263334", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P135", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1598477654", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1598477654" }, { "id": "rs1598477654", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1598477654" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 225, "end_pos": 225, "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NFI->NFT).", "chr_id": "17", "chr_pos": "51273413", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I225", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1320231022", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1320231022" }, { "id": "rs1320231022", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1320231022" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 352, "end_pos": 352, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DGS->NGS).", "chr_id": "17", "chr_pos": "51280046", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D352", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1463422661", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1463422661" }, { "id": "rs1463422661", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1463422661" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 384, "end_pos": 384, "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NGR->NGS).", "chr_id": "17", "chr_pos": "51280427", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R384", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs918161326", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs918161326" }, { "id": "rs918161326", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs918161326" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 420, "end_pos": 420, "sequence_org": "F", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NRF->NRS).", "chr_id": "17", "chr_pos": "51285299", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F420", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1209922787", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1209922787" }, { "id": "rs1209922787", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1209922787#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 514, "end_pos": 514, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NFP->NFS).", "chr_id": "17", "chr_pos": "51293939", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P514", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "86.84", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000011260", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000011260" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "93.41", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000011260", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000011260" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "79.75", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000011260", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000011260" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "74.9", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000011260", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000011260" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "90.85", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000011260", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000011260" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "90.09", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000011260", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000011260" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "75.33", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000011260", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000011260" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "90.96", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000011260", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000011260" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "91.07", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000011260", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000011260" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "74.94", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000011260", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000011260" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "85.36", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000011260", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000011260" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "89.57", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000011260", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000011260" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "90.81", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000011260", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000011260" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "Q9Y5J1", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9Y5J1" } ], "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", 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"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": "" 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"" }, { "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 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"https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial 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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, 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cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "Q9Y5J1", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9Y5J1" } ], "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": "Q9Y5J1", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9Y5J1" } ], "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": "Q9Y5J1", "url": 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"" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": 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"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": "Q9Y5J1", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9Y5J1" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed 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cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", 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Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "Q9Y5J1", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9Y5J1" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9Y5J1" } ], "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": "Q9Y5J1", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9Y5J1" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", 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located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": 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"MPPERRRRMKLDRRTGAKPKRKPGMRPDWKAGAGPGGPPQKPAPSSQRKPPARPSAAAAAIAVAAAEEERRLRQRNRLRLEEDKPAVERCLEELVFGDVENDEDALLRRLRGPRVQEHEDSGDSEVENEAKGNFPPQKKPVWVDEEDEDEEMVDMMNNRFRKDMMKNASESKLSKDNLKKRLKEEFQHAMGGVPAWAETTKRKTSSDDESEEDEDDLLQRTGNFISTSTSLPRGILKMKNCQHANAERPTVARISSVQFHPGAQIVMVAGLDNAVSLFQVDGKTNPKIQSIYLERFPIFKACFSANGEEVLATSTHSKVLYVYDMLAGKLIPVHQVRGLKEKIVRSFEVSPDGSFLLINGIAGYLHLLAMKTKELIGSMKINGRVAASTFSSDSKKVYASSGDGEVYVWDVNSRKCLNRFVDEGSLYGLSIATSRNGQYVACGSNCGVVNIYNQDSCLQETNPKPIKAIMNLVTGVTSLTFNPTTEILAIASEKMKEAVRLVHLPSCTVFSNFPVIKNKNISHVHTMDFSPRSGYFALGNEKGKALMYRLHHYSDF", "length": 556, "header": "sp|Q9Y5J1-1|UTP18_HUMAN Isoform 1 of U3 small nucleolar RNA-associated protein 18 homolog OS=Homo sapiens OX=9606 GN=UTP18 PE=1 SV=3 CANONICAL=Q9Y5J1-1" }, "isoforms": [ { "isoform_ac": "F6VJE8-1", "url": "", "sequence": { "sequence": "XKNCQHANAERPTVARISSVQFHPGAQIVMVAGLDNAVSLFQV", "length": 43, "header": "tr|F6VJE8-1|F6VJE8_HUMAN Computationally mapped isoform of UTP18 small subunit processome component OS=Homo sapiens OX=9606 GN=UTP18 PE=1 SV=1 CANONICAL=Q9Y5J1-1" }, "locus": { "chromosome": "17", "start_pos": 51280009, "end_pos": 51275868, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000508506.3", "url": "https://www.ensembl.org/id/ENST00000508506.3" }, { "database": "Ensembl Peptide", "id": "ENSP00000441335.2", "url": "https://www.ensembl.org/id/ENSP00000441335.2" } ] } }, { "isoform_ac": "J3KSR7-1", "url": "", "sequence": { "sequence": "IYLERFPIFKACFSANGEEVLATSTHSKVLYVYDMLAGKLIPVHQVRGLKEKIVRSFEVSPDGSFLLINGIAGYLHLLAMKTKELIGSMKINGRVAASTFSSDSKKVYASSGDGEVYVWDVNSRKCLNRFVDEGSLYGLSIATSRNGQYVACGLKLGKLLVYISLPPFANWSLGGKF", "length": 177, "header": "tr|J3KSR7-1|J3KSR7_HUMAN Computationally mapped isoform of UTP18 small subunit processome component OS=Homo sapiens OX=9606 GN=UTP18 PE=1 SV=1 CANONICAL=Q9Y5J1-1" }, "locus": { "chromosome": "17", "start_pos": 51288031, "end_pos": 51277163, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000583725.5", "url": "https://www.ensembl.org/id/ENST00000583725.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000462614.1", "url": "https://www.ensembl.org/id/ENSP00000462614.1" } ] } }, { "isoform_ac": "J3QLD6-1", "url": "", "sequence": { "sequence": "DVNSRKCLNRFVDEGSLYGLSIATSRNGQYVACGSNCGVVNIYNQDSCLQETNPKPIKAIMNLVTGVTSLTFNPTTEILAIASEKMKEAVRLVAPLLRLLKRLFEVQLSHKRSLS", "length": 115, "header": "tr|J3QLD6-1|J3QLD6_HUMAN Computationally mapped isoform of UTP18 small subunit processome component OS=Homo sapiens OX=9606 GN=UTP18 PE=1 SV=1 CANONICAL=Q9Y5J1-1" }, "locus": { "chromosome": "17", "start_pos": 51297811, "end_pos": 51285268, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000582832.1", "url": "https://www.ensembl.org/id/ENST00000582832.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000463499.1", "url": "https://www.ensembl.org/id/ENSP00000463499.1" } ] } }, { "isoform_ac": "J3QR85-1", "url": "", "sequence": { "sequence": "KIVRSFEVSPDGSFLLINGIAGYLHLLAMKTKELIGSMKINGRVAASTFSSDSKKVYASSGDGEVYVWDVNSRKCLNRFVDEGSLYGLSIATSRNGQYVACGCYFSDLQSYYRNLGNCFRKNERSSQIGSSSFLYSIFKLPSH", "length": 143, "header": "tr|J3QR85-1|J3QR85_HUMAN Computationally mapped isoform of UTP18 small subunit processome component OS=Homo sapiens OX=9606 GN=UTP18 PE=1 SV=1 CANONICAL=Q9Y5J1-1" }, "locus": { "chromosome": "17", "start_pos": 51293946, "end_pos": 51280016, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000583205.5", "url": "https://www.ensembl.org/id/ENST00000583205.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000464095.1", "url": "https://www.ensembl.org/id/ENSP00000464095.1" } ] } }, { "isoform_ac": "J3QRG0-1", "url": "", "sequence": { "sequence": "XDSKKVYASSGDGEVYVWDVNSRKCLNRFVDEGSLYGLSIATSRNGQYVACGSNCGVVNIYNQDSCLQETNPKPIKAIMNLVTGVTSLTFNPTTEILAIASEKMKEAVRLACCLNRTEAILGF", "length": 123, "header": "tr|J3QRG0-1|J3QRG0_HUMAN Computationally mapped isoform of UTP18 small subunit processome component OS=Homo sapiens OX=9606 GN=UTP18 PE=1 SV=2 CANONICAL=Q9Y5J1-1" }, "locus": { "chromosome": "17", "start_pos": 51288587, "end_pos": 51280450, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000579261.6", "url": "https://www.ensembl.org/id/ENST00000579261.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000464194.2", "url": "https://www.ensembl.org/id/ENSP00000464194.2" } ] } }, { "isoform_ac": "Q9Y5J1-1", "url": "", "sequence": { "sequence": "MPPERRRRMKLDRRTGAKPKRKPGMRPDWKAGAGPGGPPQKPAPSSQRKPPARPSAAAAAIAVAAAEEERRLRQRNRLRLEEDKPAVERCLEELVFGDVENDEDALLRRLRGPRVQEHEDSGDSEVENEAKGNFPPQKKPVWVDEEDEDEEMVDMMNNRFRKDMMKNASESKLSKDNLKKRLKEEFQHAMGGVPAWAETTKRKTSSDDESEEDEDDLLQRTGNFISTSTSLPRGILKMKNCQHANAERPTVARISSVQFHPGAQIVMVAGLDNAVSLFQVDGKTNPKIQSIYLERFPIFKACFSANGEEVLATSTHSKVLYVYDMLAGKLIPVHQVRGLKEKIVRSFEVSPDGSFLLINGIAGYLHLLAMKTKELIGSMKINGRVAASTFSSDSKKVYASSGDGEVYVWDVNSRKCLNRFVDEGSLYGLSIATSRNGQYVACGSNCGVVNIYNQDSCLQETNPKPIKAIMNLVTGVTSLTFNPTTEILAIASEKMKEAVRLVHLPSCTVFSNFPVIKNKNISHVHTMDFSPRSGYFALGNEKGKALMYRLHHYSDF", "length": 556, "header": "sp|Q9Y5J1-1|UTP18_HUMAN Isoform 1 of U3 small nucleolar RNA-associated protein 18 homolog OS=Homo sapiens OX=9606 GN=UTP18 PE=1 SV=3 CANONICAL=Q9Y5J1-1" }, "locus": { "chromosome": "17", "start_pos": 51296986, "end_pos": 51260585, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000225298.12", "url": "https://www.ensembl.org/id/ENST00000225298.12" }, { "database": "Ensembl Peptide", "id": "ENSP00000225298.7", "url": "https://www.ensembl.org/id/ENSP00000225298.7" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 425, "start_aa": "Ser", "end_pos": 425, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser425", "evidence": [ { "id": "Q9Y5J1", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5J1" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" }, { "id": "33465208", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33465208" }, { "id": "Q9Y5J1", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9Y5J1" } ] } ], "phosphorylation": [ { "start_pos": 121, "end_pos": 121, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9Y5J1", "url": "https://www.uniprot.org/uniprot/Q9Y5J1" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "PubMed", "id": "19367720", "url": "https://glygen.org/publication/PubMed/19367720" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" }, { "database": "PubMed", "id": "18318008", "url": "https://glygen.org/publication/PubMed/18318008" }, { "database": "iPTMnet", "id": "Q9Y5J1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Y5J1" }, { "database": "PubMed", "id": "15302935", "url": "https://glygen.org/publication/PubMed/15302935" }, { "database": "PubMed", "id": "17287340", "url": "https://glygen.org/publication/PubMed/17287340" }, { "database": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" }, { "database": "PubMed", "id": "18491316", "url": "https://glygen.org/publication/PubMed/18491316" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "19007248", "url": "https://glygen.org/publication/PubMed/19007248" }, { "database": "PubMed", "id": "19415658", "url": "https://glygen.org/publication/PubMed/19415658" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" }, { "database": "PubMed", "id": "19691289", "url": "https://glygen.org/publication/PubMed/19691289" }, { "database": "PubMed", "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139" }, { "database": "phospho.ELM", "id": "Q9Y5J1", "url": "http://phospho.elm.eu.org/byAccession/Q9Y5J1.html" }, { "database": "PubMed", "id": "16964243", "url": "https://glygen.org/publication/PubMed/16964243" } ], "site_lbl": "Ser121" }, { "start_pos": 124, "end_pos": 124, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9Y5J1", "url": "https://www.uniprot.org/uniprot/Q9Y5J1" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "PubMed", "id": "19367720", "url": "https://glygen.org/publication/PubMed/19367720" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" }, { "database": "PubMed", "id": "18318008", "url": "https://glygen.org/publication/PubMed/18318008" }, { "database": "iPTMnet", "id": "Q9Y5J1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Y5J1" }, { "database": "PubMed", "id": "15302935", "url": "https://glygen.org/publication/PubMed/15302935" }, { "database": "PubMed", "id": "16964243", "url": "https://glygen.org/publication/PubMed/16964243" }, { "database": "PubMed", "id": "17287340", "url": "https://glygen.org/publication/PubMed/17287340" }, { "database": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" }, { "database": "PubMed", "id": "18491316", "url": "https://glygen.org/publication/PubMed/18491316" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "19007248", "url": "https://glygen.org/publication/PubMed/19007248" }, { "database": "PubMed", "id": "19415658", "url": "https://glygen.org/publication/PubMed/19415658" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" }, { "database": "PubMed", "id": "19691289", "url": "https://glygen.org/publication/PubMed/19691289" }, { "database": "PubMed", "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139" }, { "database": "phospho.ELM", "id": "Q9Y5J1", "url": "http://phospho.elm.eu.org/byAccession/Q9Y5J1.html" }, { "database": "PubMed", "id": "16083285", "url": "https://glygen.org/publication/PubMed/16083285" } ], "site_lbl": "Ser124" }, { "start_pos": 204, "end_pos": 204, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "Q9Y5J1", "url": "https://www.uniprot.org/uniprot/Q9Y5J1" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" }, { "database": "iPTMnet", "id": "Q9Y5J1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Y5J1" }, { "database": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" }, { "database": "PubMed", "id": "19415658", "url": "https://glygen.org/publication/PubMed/19415658" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139" }, { "database": "phospho.ELM", "id": "Q9Y5J1", "url": "http://phospho.elm.eu.org/byAccession/Q9Y5J1.html" } ], "site_lbl": "Thr204" }, { "start_pos": 205, "end_pos": 205, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9Y5J1", "url": "https://www.uniprot.org/uniprot/Q9Y5J1" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "iPTMnet", "id": "Q9Y5J1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Y5J1" }, { "database": "PubMed", "id": "16565220", "url": "https://glygen.org/publication/PubMed/16565220" }, { "database": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" }, { "database": "PubMed", "id": "19415658", "url": "https://glygen.org/publication/PubMed/19415658" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139" }, { "database": "phospho.ELM", "id": "Q9Y5J1", "url": "http://phospho.elm.eu.org/byAccession/Q9Y5J1.html" } ], "site_lbl": "Ser205" }, { "start_pos": 206, "end_pos": 206, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9Y5J1", "url": "https://www.uniprot.org/uniprot/Q9Y5J1" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" }, { "database": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" }, { "database": "iPTMnet", "id": "Q9Y5J1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Y5J1" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "database": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" }, { "database": "PubMed", "id": "19415658", "url": "https://glygen.org/publication/PubMed/19415658" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" }, { "database": "PubMed", "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139" }, { "database": "phospho.ELM", "id": "Q9Y5J1", "url": "http://phospho.elm.eu.org/byAccession/Q9Y5J1.html" }, { "database": "PubMed", "id": "16565220", "url": "https://glygen.org/publication/PubMed/16565220" } ], "site_lbl": "Ser206" }, { "start_pos": 210, "end_pos": 210, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9Y5J1", "url": "https://www.uniprot.org/uniprot/Q9Y5J1" }, { "database": 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Biol. Cell", "date": "2002", "authors": "Scherl A, Coute Y, Deon C, Calle A, Kindbeiter K, Sanchez JC, Greco A, Hochstrasser D, Diaz JJ", "evidence": [ { "database": "UniProtKB", "id": "Q9Y5J1", "url": "https://www.uniprot.org/uniprot/Q9Y5J1" } ], "reference": [ { "type": "PubMed", "id": "12429849", "url": "https://glygen.org/publication/PubMed/12429849" } ] }, { "title": "Human box H/ACA pseudouridylation guide RNA machinery.", "journal": "Molecular and cellular biology", "date": "2004", "authors": "Kiss AM, Jady BE, Bertrand E, Kiss T", "evidence": [ { "database": "Reactome", "id": "R-HSA-6790901", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6790901" } ], "reference": [ { "type": "PubMed", "id": "15199136", "url": "https://glygen.org/publication/PubMed/15199136" } ] }, { "title": "Large-scale characterization of HeLa cell nuclear phosphoproteins.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2004", "authors": "Beausoleil SA, Jedrychowski M, Schwartz D, Elias JE, Villen J, Li J, Cohn MA, Cantley LC, Gygi SP", "evidence": [ { "database": "iPTMnet", "id": "Q9Y5J1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Y5J1" } ], "reference": [ { "type": "PubMed", "id": "15302935", "url": "https://glygen.org/publication/PubMed/15302935" } ] }, { "title": "Nuclear export and cytoplasmic processing of precursors to the 40S ribosomal subunits in mammalian cells.", "journal": "The EMBO journal", "date": "2005", "authors": "Rouquette J, Choesmel V, Gleizes PE", "evidence": [ { "database": "Reactome", "id": "R-HSA-6791226", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6791226" } ], "reference": [ { "type": "PubMed", "id": "16037817", "url": "https://glygen.org/publication/PubMed/16037817" } ] }, { "title": "Mammalian WDR12 is a novel member of the Pes1-Bop1 complex and is required for ribosome biogenesis and cell proliferation.", "journal": "The Journal of cell biology", "date": "2005", "authors": "Holzel M, Rohrmoser M, Schlee M, Grimm T, Harasim T, Malamoussi A, Gruber-Eber A, Kremmer E, Hiddemann W, Bornkamm GW, Eick D", "evidence": [ { "database": "Reactome", "id": "R-HSA-6791226", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6791226" } ], "reference": [ { "type": "PubMed", "id": "16043514", "url": "https://glygen.org/publication/PubMed/16043514" } ] }, { "title": "Global phosphoproteome of HT-29 human colon adenocarcinoma cells.", "journal": "Journal of proteome research", "date": "2005", "authors": "Kim JE, Tannenbaum SR, White FM", "evidence": [ { "database": "iPTMnet", "id": "Q9Y5J1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Y5J1" } ], "reference": [ { "type": "PubMed", "id": "16083285", "url": "https://glygen.org/publication/PubMed/16083285" } ] }, { "title": "snoRNA-LBME-db, a comprehensive database of human H/ACA and C/D box snoRNAs.", "journal": "Nucleic acids research", "date": "2006", "authors": "Lestrade L, Weber MJ", 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A, Gruber-Eber A, Kremmer E, Eick D", "evidence": [ { "database": "Reactome", "id": "R-HSA-6791226", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6791226" } ], "reference": [ { "type": "PubMed", "id": "16738141", "url": "https://glygen.org/publication/PubMed/16738141" } ] }, { "title": "Protein-protein and protein-RNA contacts both contribute to the 15.5K-mediated assembly of the U4/U6 snRNP and the box C/D snoRNPs.", "journal": "Molecular and cellular biology", "date": "2006", "authors": "Schultz A, Nottrott S, Watkins NJ, Luhrmann R", "evidence": [ { "database": "Reactome", "id": "R-HSA-6790901", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6790901" } ], "reference": [ { "type": "PubMed", "id": "16782898", "url": "https://glygen.org/publication/PubMed/16782898" } ] }, { "title": "A probability-based approach for high-throughput protein phosphorylation analysis and site localization.", "journal": "Nature biotechnology", "date": "2006", "authors": "Beausoleil SA, Villen J, Gerber SA, Rush J, Gygi SP", "evidence": [ { "database": "iPTMnet", "id": "Q9Y5J1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Y5J1" } ], "reference": [ { "type": "PubMed", "id": "16964243", "url": "https://glygen.org/publication/PubMed/16964243" } ] }, { "title": "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.", "journal": "Cell", "date": "2006", "authors": "Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q9Y5J1", "url": "https://www.uniprot.org/uniprot/Q9Y5J1" }, { "database": "iPTMnet", "id": "Q9Y5J1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Y5J1" } ], "reference": [ { "type": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ] }, { "title": "The BRCT domain of mammalian Pes1 is crucial for nucleolar localization and rRNA processing.", "journal": "Nucleic acids research", "date": "2007", "authors": "Holzel M, Grimm T, Rohrmoser M, Malamoussi A, Harasim T, Gruber-Eber A, Kremmer E, Eick D", "evidence": [ { "database": "Reactome", "id": "R-HSA-6791226", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6791226" } ], "reference": [ { "type": "PubMed", "id": "17189298", "url": "https://glygen.org/publication/PubMed/17189298" } ] }, { "title": "Global proteomic profiling of phosphopeptides using electron transfer dissociation tandem mass spectrometry.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2007", "authors": "Molina H, Horn DM, Tang N, Mathivanan S, Pandey A", "evidence": [ { "database": "iPTMnet", "id": "Q9Y5J1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Y5J1" } ], "reference": [ { "type": "PubMed", "id": "17287340", "url": "https://glygen.org/publication/PubMed/17287340" } ] }, { "title": "Interdependence of Pes1, Bop1, and WDR12 controls nucleolar localization and assembly of the PeBoW complex required for maturation of the 60S ribosomal subunit.", "journal": "Molecular and cellular biology", "date": "2007", "authors": "Rohrmoser M, Holzel M, Grimm T, Malamoussi A, Harasim T, Orban M, Pfisterer I, Gruber-Eber A, Kremmer E, Eick D", "evidence": [ { "database": "Reactome", "id": "R-HSA-6791226", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6791226" } ], "reference": [ { "type": "PubMed", "id": "17353269", "url": "https://glygen.org/publication/PubMed/17353269" } ] }, { "title": "C1D and hMtr4p associate with the human exosome subunit PM/Scl-100 and are involved in pre-rRNA processing.", "journal": "Nucleic acids research", "date": "2007", "authors": "Schilders G, van Dijk E, Pruijn GJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-6791226", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6791226" } ], "reference": [ { "type": "PubMed", "id": "17412707", "url": "https://glygen.org/publication/PubMed/17412707" } ] }, { "title": "A dynamic 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phosphoproteome analysis of human liver tissue by enrichment and fractionation of phosphopeptides with strong anion exchange chromatography.", "journal": "Proteomics", "date": "2008", "authors": "Han G, Ye M, Zhou H, Jiang X, Feng S, Jiang X, Tian R, Wan D, Zou H, Gu J", "evidence": [ { "database": "UniProtKB", "id": "Q9Y5J1", "url": "https://www.uniprot.org/uniprot/Q9Y5J1" }, { "database": "iPTMnet", "id": "Q9Y5J1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9Y5J1" } ], "reference": [ { "type": "PubMed", "id": "18318008", "url": "https://glygen.org/publication/PubMed/18318008" } ] }, { "title": "Mouse Eri1 interacts with the ribosome and catalyzes 5.8S rRNA processing.", "journal": "Nature structural & molecular biology", "date": "2008", "authors": "Ansel KM, Pastor WA, Rath N, Lapan AD, Glasmacher E, Wolf C, Smith LC, Papadopoulou N, Lamperti ED, Tahiliani M, Ellwart JW, Shi Y, Kremmer E, Rao A, Heissmeyer V", "evidence": [ { "database": "Reactome", "id": 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