{ "uniprot_canonical_ac": "P17480-1", "uniprot_ac": "P17480", "uniprot_id": "UBF1_HUMAN", "mass": { "chemical_mass": 89406.0, "monoisotopic_mass": 89406.0 }, "refseq": { "ac": "NP_001070151", "name": "nucleolar transcription factor 1 isoform b", "summary": "This gene encodes a member of the HMG-box DNA-binding protein family. The encoded protein plays a critical role in ribosomal RNA transcription as a key component of the pre-initiation complex, mediating the recruitment of RNA polymerase I to rDNA promoter regions. The encoded protein may also play important roles in chromatin remodeling and pre-rRNA processing, and its activity is regulated by both phosphorylation and acetylation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. Pseudogenes of this gene are located on the short arm of chromosomes 3, 11 and X and the long arm of chromosome 11. [provided by RefSeq, Aug 2011].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001070151" }, "gene_names": [ { "name": "UBTF", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P17480", "id": "P17480" }, { "name": "CONDBA; NOR-90; UBF; UBF-1; UBF1; UBF2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001070151", "id": "NP_001070151" }, { "name": "UBF1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P17480", "id": "P17480" }, { "name": "UBF", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P17480", "id": "P17480" }, { "name": "UBTF", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001070151", "id": "NP_001070151" } ], "protein_names": [ { "name": "Nucleolar transcription factor 1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P17480" }, { "name": "Autoantigen NOR-90", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P17480" }, { "name": "UBF-1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P17480" }, { "name": "Upstream-binding factor 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P17480" }, { "name": "nucleolar transcription factor 1 isoform b", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001070151", "id": "NP_001070151" }, { "name": "nucleolar transcription factor 1; autoantigen NOR-90; 90-kDa nucleolus organizer region autoantigen; upstream binding transcription factor, RNA polymerase I", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001070151", "id": "NP_001070151" } ], "function": [ { "annotation": "FGF13A interacts with NPM1 and UBF and inhibits the invasion of bladder cancer cells.", "evidence": [ { "database": "RefSeq", "id": "NP_001070151", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001070151" }, { "database": "PubMed", "id": "37603967", "url": "https://glygen.org/publication/PubMed/37603967" } ] }, { "annotation": "Recognizes the ribosomal RNA gene promoter and activates transcription mediated by RNA polymerase I through cooperative interactions with the transcription factor SL1/TIF-IB complex. It binds specifically to the upstream control element.", "evidence": [ { "database": "UniProtKB", "id": "P17480", "url": "https://www.uniprot.org/uniprot/P17480#function" }, { "database": "PubMed", "id": "7982918", "url": "https://glygen.org/publication/PubMed/7982918" }, { "database": "PubMed", "id": "28777933", "url": "https://glygen.org/publication/PubMed/28777933" } ] }, { "annotation": "This gene encodes a member of the HMG-box DNA-binding protein family. The encoded protein plays a critical role in ribosomal RNA transcription as a key component of the pre-initiation complex, mediating the recruitment of RNA polymerase I to rDNA promoter regions. The encoded protein may also play important roles in chromatin remodeling and pre-rRNA processing, and its activity is regulated by both phosphorylation and acetylation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. Pseudogenes of this gene are located on the short arm of chromosomes 3, 11 and X and the long arm of chromosome 11. [provided by RefSeq, Aug 2011].", "evidence": [ { "database": "RefSeq", "id": "NP_001070151", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001070151" } ] }, { "annotation": "UBTF tandem duplications are rare but recurrent alterations in adult AML and associated with younger age, myelodysplasia, and inferior outcome. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001070151", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001070151" }, { "database": "PubMed", "id": "37236968", "url": "https://glygen.org/publication/PubMed/37236968" } ] }, { "annotation": "UBTF tandem duplications define a distinct subtype of adult de novo acute myeloid leukemia.", "evidence": [ { "database": "RefSeq", "id": "NP_001070151", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001070151" }, { "database": "PubMed", "id": "37085611", "url": "https://glygen.org/publication/PubMed/37085611" } ] }, { "annotation": "UBTF-internal tandem duplication as a novel poor prognostic factor in pediatric acute myeloid leukemia.", "evidence": [ { "database": "RefSeq", "id": "NP_001070151", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001070151" }, { "database": "PubMed", "id": "36448876", "url": "https://glygen.org/publication/PubMed/36448876" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs772193862", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772193862" }, { "id": "rs772193862", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772193862" }, { "id": "rs772193862", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs772193862" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 141, "end_pos": 141, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DLT->NLT).", "chr_id": "17", "chr_pos": "44215707", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D141", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs939472336", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs939472336" }, { "id": "rs939472336", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs939472336#frequency_tab" }, { "id": "rs939472336", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs939472336" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 201, "end_pos": 201, "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->P).", "chr_id": "17", "chr_pos": "44212878", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T201", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs866221738", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs866221738" }, { "id": "rs866221738", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs866221738" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 229, "end_pos": 229, "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->F).", "chr_id": "17", "chr_pos": "44212429", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S229", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs774001412", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774001412" }, { "id": "rs774001412", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774001412" }, { "id": "rs774001412", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs774001412" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 279, "end_pos": 279, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KST->NST).", "chr_id": "17", "chr_pos": "44211941", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K279", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P17480", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P17480" } ], "glycoeffect": [], "start_pos": 601, "end_pos": 601, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "S", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "17", "chr_pos": "44209456", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G601", "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": "" } ] }, { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. 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"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 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"https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs761832828", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761832828" }, { "id": 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"https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "No", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P17480", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P17480" } ], "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": "No", "trend": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "P17480", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P17480" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "P17480", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P17480" } ], "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": "P17480", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P17480" } ], "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 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"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": "P17480", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P17480" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P17480", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P17480" } ], "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": "down", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "P17480", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P17480" } ], "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": "P17480", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P17480" } ], "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": 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P17480" } ], "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": "P17480", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P17480" } ], "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": 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"url": "https://www.rcsb.org/structure/2HDZ", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00505", "url": "http://pfam.xfam.org/family/PF00505", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF09011", "url": "http://pfam.xfam.org/family/PF09011", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF14887", "url": "http://pfam.xfam.org/family/PF14887", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "P17480", "url": "https://pharos.nih.gov/targets/P17480", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_P17480", "url": "http://purl.obolibrary.org/obo/PR_P17480", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-427413", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-427413", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-73728", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-73728", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-73762", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-73762", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-73772", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-73772", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-73863", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-73863", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001070151", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001070151", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A0A994J4N4", "url": "https://www.uniprot.org/uniprot/A0A994J4N4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A994J4N4-1", "url": "https://www.uniprot.org/uniprot/A0A994J4N4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PKP7", "url": "https://www.uniprot.org/uniprot/E9PKP7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PKP7-1", "url": "https://www.uniprot.org/uniprot/E9PKP7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PLT2", "url": "https://www.uniprot.org/uniprot/E9PLT2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PLT2-1", "url": "https://www.uniprot.org/uniprot/E9PLT2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PMM2", "url": "https://www.uniprot.org/uniprot/E9PMM2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PMM2-1", "url": "https://www.uniprot.org/uniprot/E9PMM2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P17480", "url": "https://www.uniprot.org/uniprot/P17480", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P17480-1", "url": "https://www.uniprot.org/uniprot/P17480-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P17480-2", "url": "https://www.uniprot.org/uniprot/P17480-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MNGEADCPTDLEMAAPKGQDRWSQEDMLTLLECMKNNLPSNDSSKFKTTESHMDWEKVAFKDFSGDMCKLKWVEISNEVRKFRTLTELILDAQEHVKNPYKGKKLKKHPDFPKKPLTPYFRFFMEKRAKYAKLHPEMSNLDLTKILSKKYKELPEKKKMKYIQDFQREKQEFERNLARFREDHPDLIQNAKKSDIPEKPKTPQQLWYTHEKKVYLKVRPDATTKEVKDSLGKQWSQLSDKKRLKWIHKALEQRKEYEEIMRDYIQKHPELNISEEGITKSTLTKAERQLKDKFDGRPTKPPPNSYSLYCAELMANMKDVPSTERMVLCSQQWKLLSQKEKDAYHKKCDQKKKDYEVELLRFLESLPEEEQQRVLGEEKMLNINKKQATSPASKKPAQEGGKGGSEKPKRPVSAMFIFSEEKRRQLQEERPELSESELTRLLARMWNDLSEKKKAKYKAREAALKAQSERKPGGEREERGKLPESPKRAEEIWQQSVIGDYLARFKNDRVKALKAMEMTWNNMEKKEKLMWIKKAAEDQKRYERELSEMRAPPAATNSSKKMKFQGEPKKPPMNGYQKFSQELLSNGELNHLPLKERMVEIGSRWQRISQSQKEHYKKLAEEQQKQYKVHLDLWVKSLSPQDRAAYKEYISNKRKSMTKLRGPNPKSSRTTLQSKSESEEDDEEDEDDEDEDEEEEDDENGDSSEDGGDSSESSSEDESEDGDENEEDDEDEDDDEDDDEDEDNESEGSSSSSSSSGDSSDSDSN", "length": 764, "header": "sp|P17480-1|UBF1_HUMAN Isoform 1 of Nucleolar transcription factor 1 OS=Homo sapiens OX=9606 GN=UBTF PE=1 SV=1 CANONICAL=P17480-1" }, "isoforms": [ { "isoform_ac": "A0A994J4N4-1", "url": "", "sequence": { "sequence": "MNGEADCPTDLEMAAPKGQDRWSQEDMLTLLECMKNNLPSNDSSKFKTTESHMDWEKVAFKDFSGDMCKLKWVEISNEVRKFRTLTELILDAQEHVKNPYKGKKLKKHPDFPKKPLTPYFRFFMEKRAKYAKLHPEMSNLDLTKILSKKYKELPEKKKMKYIQDFQREKQEFERNLARFREDHPDLIQNAKKSDIPEKPKTPQQLWYTHEKKVYLKVRPDEIMRDYIQKHPELNISEEGITKSTLTKAERQLKDKFDGRPTKPPPNSYSLYCAELMANMKDVPSTERMVLCSQQWKLLSQKEKDAYHKKCDQKKKDYEVELLRFLESLPEEEQQRVLGEEKMLNINKKQATSPASKKPAQEGGKGGSEKPKRPVSAMFIFSEEKRRQLQEERPELSESELTRLLARMWNDLSEKKKAKYKAREAALKAQSERKPGGEREERGKLPESPKRAEEIWQQSVIGDYLARFKNDRVKALKAMEMTWNNMEKKEKLMWIKKAAEDQKRYERELSEMRAPPAATNSSKKMKFQGEPKKPPMNGYQKFSQELLSNGELNHLPLKERMVEIGSRWQRISQSQKEHYKKLAEEQQKQYKVHLDLWVKRWAGWSRTPDLM", "length": 610, "header": "tr|A0A994J4N4-1|UBF1_HUMAN Computationally mapped isoform of Nucleolar transcription factor 1 OS=Homo sapiens OX=9606 GN=UBTF PE=1 SV=1 CANONICAL=P17480-1" }, "locus": { "chromosome": "17", "start_pos": 44218229, "end_pos": 44208966, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000704740.1", "url": "https://www.ensembl.org/id/ENST00000704740.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000516018.1", "url": "https://www.ensembl.org/id/ENSP00000516018.1" } ] } }, { "isoform_ac": "E9PKP7-1", "url": "", "sequence": { "sequence": "MNGEADCPTDLEMAAPKGQDRWSQEDMLTLLECMKNNLPSNDSSKFKTTESHMDWEKVAFKDFSGDMCKLKWVEISNEVRKFRTLTELILDAQEHVKNPYKGKKLKKHPDFPKKPLTPYFRFFMEKRAKYAKLHPEMSNLDLTKILSKKYKELPEKKKMKYIQDFQREKQEFERNLARFREDHPDLIQNAKKSDIPEKPKTPQQLWYTHEKKVYLKVRPDEIMRDYIQKHPELNISEEGITKSTLTKAERQLKDKFDGRPTKPPPNSYSLYCAELMANMKDVPSTERMVLCSQQWKLLSQKEKDAYHKKCDQKKKDYEVELLRFLESLPEEEQQRVLGEEKMLNINKKQATSPASKKPAQEGGKGGSEKPKRPVSAMFIFSEEKRRQLQEERPELSESELTRLLARMWNDLSEKKKAKYKAREAALKAQSERKPGGEREERGKLPESPKRAEEIWQQSVIGDYLARFKNDRVKALKAMEMTWNNMEKKEKLMWIKKAAEDQKRYERELSEMRAPPAATNSSKKMKFQGEPKKPPMNGYQKFSQELLSNGELNHLPLKERMVEIGSRWQRISQSQKEHYKKLAEEQQKQYKVHLDLWVKSLSPQDRAAYKEYISNKRKSMTKLRGPNPKSSRTTLQSKSPRRMMKRMRMTRTRMKKRKMMRMGTPLKMAATPLSPAARTRARMGMRMKRMTRTKTTTRMTMRMKIMSPRAAAPAPPPQGTPQTLTPTEAQPHPRAARESPGAPLPN", "length": 745, "header": "tr|E9PKP7-1|UBF1_HUMAN Computationally mapped isoform of Nucleolar transcription factor 1 OS=Homo sapiens OX=9606 GN=UBTF PE=1 SV=1 CANONICAL=P17480-1" }, "locus": { "chromosome": "17", "start_pos": 44218229, "end_pos": 44207187, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000527034.5", "url": "https://www.ensembl.org/id/ENST00000527034.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000431539.1", "url": "https://www.ensembl.org/id/ENSP00000431539.1" } ] } }, { "isoform_ac": "E9PLT2-1", "url": "", "sequence": { "sequence": "MFIFSEEKRRQLQEERPELSESELTRLLARMWNDLSEKKKAKYKAREAALKAQSERKPGGEREERGKLPESPKRAEEIWQQSVIGDYLARFKNDRVKALKAMEMTWNNMEKKEKLMWIKKAAEDQKRYERELSEMRAPPAATNSSKKMKFQGEPKKPPMNGYQKFSQELLSNGELNHLPLKERMVEIGSRWQRI", "length": 194, "header": "tr|E9PLT2-1|UBF1_HUMAN Computationally mapped isoform of Nucleolar transcription factor 1 OS=Homo sapiens OX=9606 GN=UBTF PE=1 SV=1 CANONICAL=P17480-1" }, "locus": { "chromosome": "17", "start_pos": 44210911, "end_pos": 44209436, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000529373.1", "url": "https://www.ensembl.org/id/ENST00000529373.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000431295.1", "url": "https://www.ensembl.org/id/ENSP00000431295.1" } ] } }, { "isoform_ac": "E9PMM2-1", "url": "", "sequence": { "sequence": "MNGEADCPTDLEMAAPKGQDRWSQEDMLTLLECMKNNLPSNDSSKFKTTESHMDWEKVAFKDFSGDMCKLKWVEISNEKHPDFPKKPLTPYFRFFMEKRAKYAKLHPEMSNLDLTKILSKKYKELPEKKKMKYIQDFQREKQEFERNLA", "length": 149, "header": "tr|E9PMM2-1|UBF1_HUMAN Computationally mapped isoform of Nucleolar transcription factor 1 OS=Homo sapiens OX=9606 GN=UBTF PE=1 SV=1 CANONICAL=P17480-1" }, "locus": { "chromosome": "17", "start_pos": 44218229, "end_pos": 44213226, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000530828.1", "url": "https://www.ensembl.org/id/ENST00000530828.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000433046.1", "url": "https://www.ensembl.org/id/ENSP00000433046.1" } ] } }, { "isoform_ac": "P17480-1", "url": "", "sequence": { "sequence": "MNGEADCPTDLEMAAPKGQDRWSQEDMLTLLECMKNNLPSNDSSKFKTTESHMDWEKVAFKDFSGDMCKLKWVEISNEVRKFRTLTELILDAQEHVKNPYKGKKLKKHPDFPKKPLTPYFRFFMEKRAKYAKLHPEMSNLDLTKILSKKYKELPEKKKMKYIQDFQREKQEFERNLARFREDHPDLIQNAKKSDIPEKPKTPQQLWYTHEKKVYLKVRPDATTKEVKDSLGKQWSQLSDKKRLKWIHKALEQRKEYEEIMRDYIQKHPELNISEEGITKSTLTKAERQLKDKFDGRPTKPPPNSYSLYCAELMANMKDVPSTERMVLCSQQWKLLSQKEKDAYHKKCDQKKKDYEVELLRFLESLPEEEQQRVLGEEKMLNINKKQATSPASKKPAQEGGKGGSEKPKRPVSAMFIFSEEKRRQLQEERPELSESELTRLLARMWNDLSEKKKAKYKAREAALKAQSERKPGGEREERGKLPESPKRAEEIWQQSVIGDYLARFKNDRVKALKAMEMTWNNMEKKEKLMWIKKAAEDQKRYERELSEMRAPPAATNSSKKMKFQGEPKKPPMNGYQKFSQELLSNGELNHLPLKERMVEIGSRWQRISQSQKEHYKKLAEEQQKQYKVHLDLWVKSLSPQDRAAYKEYISNKRKSMTKLRGPNPKSSRTTLQSKSESEEDDEEDEDDEDEDEEEEDDENGDSSEDGGDSSESSSEDESEDGDENEEDDEDEDDDEDDDEDEDNESEGSSSSSSSSGDSSDSDSN", "length": 764, "header": "sp|P17480-1|UBF1_HUMAN Isoform 1 of Nucleolar transcription factor 1 OS=Homo sapiens OX=9606 GN=UBTF PE=1 SV=1 CANONICAL=P17480-1" }, "locus": { "chromosome": "17", "start_pos": 44218229, "end_pos": 44207245, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000529383.5", "url": "https://www.ensembl.org/id/ENST00000529383.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000435708.1", "url": "https://www.ensembl.org/id/ENSP00000435708.1" } ] } }, { "isoform_ac": "P17480-2", "url": "", "sequence": { "sequence": "MNGEADCPTDLEMAAPKGQDRWSQEDMLTLLECMKNNLPSNDSSKFKTTESHMDWEKVAFKDFSGDMCKLKWVEISNEVRKFRTLTELILDAQEHVKNPYKGKKLKKHPDFPKKPLTPYFRFFMEKRAKYAKLHPEMSNLDLTKILSKKYKELPEKKKMKYIQDFQREKQEFERNLARFREDHPDLIQNAKKSDIPEKPKTPQQLWYTHEKKVYLKVRPDEIMRDYIQKHPELNISEEGITKSTLTKAERQLKDKFDGRPTKPPPNSYSLYCAELMANMKDVPSTERMVLCSQQWKLLSQKEKDAYHKKCDQKKKDYEVELLRFLESLPEEEQQRVLGEEKMLNINKKQATSPASKKPAQEGGKGGSEKPKRPVSAMFIFSEEKRRQLQEERPELSESELTRLLARMWNDLSEKKKAKYKAREAALKAQSERKPGGEREERGKLPESPKRAEEIWQQSVIGDYLARFKNDRVKALKAMEMTWNNMEKKEKLMWIKKAAEDQKRYERELSEMRAPPAATNSSKKMKFQGEPKKPPMNGYQKFSQELLSNGELNHLPLKERMVEIGSRWQRISQSQKEHYKKLAEEQQKQYKVHLDLWVKSLSPQDRAAYKEYISNKRKSMTKLRGPNPKSSRTTLQSKSESEEDDEEDEDDEDEDEEEEDDENGDSSEDGGDSSESSSEDESEDGDENEEDDEDEDDDEDDDEDEDNESEGSSSSSSSSGDSSDSDSN", "length": 727, "header": "sp|P17480-2|UBF1_HUMAN Isoform 2 of Nucleolar transcription factor 1 OS=Homo sapiens OX=9606 GN=UBTF PE=1 SV=1 CANONICAL=P17480-1" }, "locus": { "chromosome": "17", "start_pos": 44218229, "end_pos": 44207245, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000526094.5", "url": "https://www.ensembl.org/id/ENST00000526094.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000432925.1", "url": "https://www.ensembl.org/id/ENSP00000432925.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 201, "start_aa": "Thr", "end_pos": 201, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr201", "evidence": [ { "id": "P17480", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P17480" }, { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "32522876", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32522876" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" }, { "id": "33465208", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33465208" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" }, { "id": "34229054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34229054" }, { "id": "29237092", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29237092" }, { "id": "P17480", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P17480" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 229, "start_aa": "Ser", "end_pos": 229, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser229", "evidence": [ { "id": "P17480", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P17480" }, { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "32522876", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32522876" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" }, { "id": "33465208", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33465208" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" }, { "id": "34229054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34229054" }, { "id": "29237092", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29237092" }, { "id": "P17480", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P17480" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 449, "start_aa": "Ser", "end_pos": 449, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser449", "evidence": [ { "id": "P17480", "database": "O-GlcNAc Database", "url": 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"Acetylation of TAF(I)68, a subunit of TIF-IB/SL1, activates RNA polymerase I transcription.", "journal": "The EMBO journal", "date": "2001", "authors": "Muth V, Nadaud S, Grummt I, Voit R", "evidence": [ { "database": "Reactome", "id": "R-HSA-73762", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-73762" } ], "reference": [ { "type": "PubMed", "id": "11250901", "url": "https://glygen.org/publication/PubMed/11250901" } ] }, { "title": "Phosphorylation of UBF at serine 388 is required for interaction with RNA polymerase I and activation of rDNA transcription.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2001", "authors": "Voit R, Grummt I", "evidence": [ { "database": "iPTMnet", "id": "P17480-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P17480-1" } ], "reference": [ { "type": "PubMed", "id": "11698641", "url": "https://glygen.org/publication/PubMed/11698641" } ] }, { "title": "An immediate response 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"https://glygen.org/publication/PubMed/11969401" } ] }, { "title": "Multiple interactions between RNA polymerase I, TIF-IA and TAF(I) subunits regulate preinitiation complex assembly at the ribosomal gene promoter.", "journal": "EMBO reports", "date": "2002", "authors": "Yuan X, Zhao J, Zentgraf H, Hoffmann-Rohrer U, Grummt I", "evidence": [ { "database": "Reactome", "id": "R-HSA-73762", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-73762" } ], "reference": [ { "type": "PubMed", "id": "12393749", "url": "https://glygen.org/publication/PubMed/12393749" } ] }, { "title": "Solution structure and DNA binding property of the fifth HMG box domain in comparison with the first HMG box domain in human upstream binding factor.", "journal": "Biochemistry", "date": "2003", "authors": "Shi Y., Wu J., Xu Y., Yang W., Zeng W.", "evidence": [ { "database": "UniProtKB", "id": "P17480", "url": "https://www.uniprot.org/uniprot/P17480" } ], "reference": [ { "type": "PubMed", "id": "12590579", "url": "https://glygen.org/publication/PubMed/12590579" } ] }, { "title": "Rrn3 becomes inactivated in the process of ribosomal DNA transcription.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Hirschler-Laszkiewicz I, Cavanaugh AH, Mirza A, Lun M, Hu Q, Smink T, Rothblum LI", "evidence": [ { "database": "Reactome", "id": "R-HSA-73772", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-73772" } ], "reference": [ { "type": "PubMed", "id": "12646563", "url": "https://glygen.org/publication/PubMed/12646563" } ] }, { "title": "Role of human ribosomal RNA (rRNA) promoter methylation and of methyl-CpG-binding protein MBD2 in the suppression of rRNA gene expression.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Ghoshal K, Majumder S, Datta J, Motiwala T, Bai S, Sharma SM, Frankel W, Jacob ST", "evidence": [ { "database": "Reactome", "id": "R-HSA-427413", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-427413" } ], "reference": [ { "type": "PubMed", "id": "14610093", "url": "https://glygen.org/publication/PubMed/14610093" } ] }, { "title": "Mechanism of RNA polymerase I transcription.", "journal": "Advances in protein chemistry", "date": "2004", "authors": "Comai L", "evidence": [ { "database": "Reactome", "id": "R-HSA-73772", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-73772" } ], "reference": [ { "type": "PubMed", "id": "14969726", "url": "https://glygen.org/publication/PubMed/14969726" } ] }, { "title": "The TATA-binding protein and associated factors are integral components of the RNA polymerase I transcription factor, SL1.", "journal": "Cell", "date": "1992", "authors": "Comai L, Tanese N, Tjian R", "evidence": [ { "database": "Reactome", "id": "R-HSA-73762", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-73762" } ], "reference": [ { "type": "PubMed", "id": "1547496", "url": "https://glygen.org/publication/PubMed/1547496" } ] }, { "title": "Role of DNA methyltransferases in regulation of human ribosomal RNA gene transcription.", "journal": "The Journal of biological chemistry", "date": "2006", "authors": "Majumder S, Ghoshal K, Datta J, Smith DS, Bai S, Jacob ST", "evidence": [ { "database": "Reactome", "id": "R-HSA-427413", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-427413" } ], "reference": [ { "type": "PubMed", "id": "16735507", "url": "https://glygen.org/publication/PubMed/16735507" } ] }, { "title": "Mass spectrometric identification of phosphorylation sites of rRNA transcription factor upstream binding factor.", "journal": "American journal of physiology. Cell physiology", "date": "2007", "authors": "Lin CH, Platt MD, Ficarro SB, Hoofnagle MH, Shabanowitz J, Comai L, Hunt DF, Owens GK", "evidence": [ { "database": "iPTMnet", "id": "P17480", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P17480" } ], "reference": [ { "type": "PubMed", "id": "17182730", "url": "https://glygen.org/publication/PubMed/17182730" } ] }, { "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": "P17480-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P17480-1" } ], "reference": [ { "type": "PubMed", "id": "17287340", "url": "https://glygen.org/publication/PubMed/17287340" } ] }, { "title": "A novel TBP-associated factor of SL1 functions in RNA polymerase I transcription.", "journal": "The EMBO journal", "date": "2007", "authors": "Gorski JJ, Pathak S, Panov K, Kasciukovic T, Panova T, Russell J, Zomerdijk JC", "evidence": [ { "database": "Reactome", "id": "R-HSA-73762", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-73762" } ], "reference": [ { "type": "PubMed", "id": "17318177", "url": "https://glygen.org/publication/PubMed/17318177" } ] }, { "title": "Epigenetic disruption of ribosomal RNA genes and nucleolar architecture in DNA methyltransferase 1 (Dnmt1) deficient cells.", "journal": "Nucleic acids research", "date": "2007", "authors": "Espada J, Ballestar E, Santoro R, Fraga MF, Villar-Garea A, Nemeth A, Lopez-Serra L, Ropero S, Aranda A, Orozco H, Moreno V, Juarranz A, Stockert JC, Langst G, Grummt I, Bickmore W, Esteller M", "evidence": [ { "database": "Reactome", "id": "R-HSA-427413", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-427413" } ], "reference": [ { "type": "PubMed", "id": "17355984", "url": "https://glygen.org/publication/PubMed/17355984" } ] }, { "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": "P17480-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P17480-1" } ], "reference": [ { "type": "PubMed", "id": "18077418", "url": "https://glygen.org/publication/PubMed/18077418" } ] }, { "title": "Motif-specific sampling of phosphoproteomes.", "journal": "Journal of proteome research", "date": "2008", "authors": "Ruse CI, McClatchy DB, Lu B, Cociorva D, Motoyama A, Park SK, Yates JR 3rd", "evidence": [ { "database": "iPTMnet", "id": "P17480-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P17480-1" } ], "reference": [ { "type": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "P17480", "url": "https://www.uniprot.org/uniprot/P17480" }, { "database": "iPTMnet", "id": "P17480-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P17480-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Evaluation of the low-specificity protease elastase for large-scale phosphoproteome analysis.", "journal": "Analytical chemistry", "date": "2008", "authors": "Wang B, Malik R, Nigg EA, Korner R", "evidence": [ { "database": "iPTMnet", "id": "P17480-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P17480-1" } ], "reference": [ { "type": "PubMed", "id": "19007248", "url": "https://glygen.org/publication/PubMed/19007248" } ] }, { "title": "UBF levels determine the number of active ribosomal RNA genes in mammals.", "journal": "The Journal of cell biology", "date": "2008", "authors": "Sanij E, Poortinga G, Sharkey K, Hung S, Holloway TP, Quin J, Robb E, Wong LH, Thomas WG, Stefanovsky V, Moss T, Rothblum L, Hannan KM, McArthur GA, Pearson RB, Hannan RD", "evidence": [ { "database": "iPTMnet", "id": "P17480", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P17480" } ], "reference": [ { "type": "PubMed", "id": "19103806", "url": "https://glygen.org/publication/PubMed/19103806" } ] }, { "title": "Human autoantibody to RNA polymerase I transcription factor hUBF. Molecular identity of nucleolus organizer region autoantigen NOR-90 and ribosomal RNA transcription upstream binding factor.", "journal": "J. Exp. Med.", "date": "1991", "authors": "Chan EK, Imai H, Hamel JC, Tan EM", "evidence": [ { "database": "UniProtKB", "id": "P17480", "url": "https://www.uniprot.org/uniprot/P17480" } ], "reference": [ { "type": "PubMed", "id": "1940801", "url": "https://glygen.org/publication/PubMed/1940801" } ] }, { "title": "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.", "journal": "Analytical chemistry", "date": "2009", "authors": "Gauci S, Helbig AO, Slijper M, Krijgsveld J, Heck AJ, Mohammed S", "evidence": [ { "database": "iPTMnet", "id": "P17480-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P17480-1" } ], "reference": [ { "type": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ] }, { "title": "Global effects of kinase inhibitors on signaling networks revealed by quantitative phosphoproteomics.", "journal": "Molecular & cellular proteomics : MCP", "date": "2009", "authors": "Pan C, Olsen JV, Daub H, Mann M", "evidence": [ { "database": "iPTMnet", "id": "P17480-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P17480-1" } ], "reference": [ { "type": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ] }, { "title": "Quantitative analysis of the human spindle phosphoproteome at distinct mitotic stages.", "journal": "Journal of proteome research", "date": "2009", "authors": "Malik R, Lenobel R, Santamaria A, Ries A, Nigg EA, Korner R", "evidence": [ { "database": "iPTMnet", "id": "P17480-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P17480-1" } ], "reference": [ { "type": "PubMed", "id": "19691289", "url": "https://glygen.org/publication/PubMed/19691289" } ] }, { "title": "An intergenic non-coding rRNA correlated with expression of the rRNA and frequency of an rRNA single nucleotide polymorphism in lung cancer cells.", "journal": "PloS one", "date": "2009", "authors": "Shiao YH, Lupascu ST, Gu YD, Kasprzak W, Hwang CJ, Fields JR, Leighty RM, Quinones O, Shapiro BA, Alvord WG, Anderson LM", "evidence": [ { "database": "Reactome", "id": "R-HSA-427413", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-427413" } ], "reference": [ { "type": "PubMed", "id": "19838300", "url": "https://glygen.org/publication/PubMed/19838300" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "P17480", "url": "https://www.uniprot.org/uniprot/P17480" }, { "database": "iPTMnet", "id": "P17480-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P17480-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "Nucleolar retention of a translational C/EBPalpha isoform stimulates rDNA transcription and cell size.", "journal": "EMBO J.", "date": "2010", "authors": "Muller C, Bremer A, Schreiber S, Eichwald S, Calkhoven CF", "evidence": [ { "database": "UniProtKB", "id": "P17480", "url": "https://www.uniprot.org/uniprot/P17480" } ], "reference": [ { "type": "PubMed", "id": "20075868", "url": "https://glygen.org/publication/PubMed/20075868" } ] }, { "title": "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.", "journal": "Science signaling", "date": "2011", "authors": "Rigbolt KT, Prokhorova TA, Akimov V, Henningsen J, Johansen PT, Kratchmarova I, Kassem M, Mann M, Olsen JV, Blagoev B", "evidence": [ { "database": "UniProtKB", "id": "P17480", "url": "https://www.uniprot.org/uniprot/P17480" }, { "database": "iPTMnet", "id": "P17480", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P17480" } ], "reference": [ { "type": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" } ] }, { "title": "Identification of DHX33 as a mediator of rRNA synthesis and cell growth.", "journal": "Mol. Cell. Biol.", "date": "2011", "authors": "Zhang Y, Forys JT, Miceli AP, Gwinn AS, Weber JD", "evidence": [ { "database": "UniProtKB", "id": "P17480", "url": "https://www.uniprot.org/uniprot/P17480" } ], "reference": [ { "type": "PubMed", "id": "21930779", "url": "https://glygen.org/publication/PubMed/21930779" } ] }, { "title": "The Reb1-homologue Ydr026c/Nsi1 is required for efficient RNA polymerase I termination in yeast.", "journal": "The EMBO journal", "date": "2012", "authors": "Reiter A, Hamperl S, Seitz H, Merkl P, Perez-Fernandez J, Williams L, Gerber J, Nemeth A, Leger I, Gadal O, Milkereit P, Griesenbeck J, Tschochner H", "evidence": [ { "database": "Reactome", "id": "R-HSA-73863", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-73863" } ], "reference": [ { "type": "PubMed", "id": "22805593", "url": "https://glygen.org/publication/PubMed/22805593" } ] }, { "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": "P17480", "url": "https://www.uniprot.org/uniprot/P17480" }, { "database": "iPTMnet", "id": "P17480", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P17480" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "PHF6 regulates cell cycle progression by suppressing ribosomal RNA synthesis.", "journal": "J. Biol. Chem.", "date": "2013", "authors": "Wang J, Leung JW, Gong Z, Feng L, Shi X, Chen J", "evidence": [ { "database": "UniProtKB", "id": "P17480", "url": "https://www.uniprot.org/uniprot/P17480" } ], "reference": [ { "type": "PubMed", "id": "23229552", "url": "https://glygen.org/publication/PubMed/23229552" } ] }, { "title": "Nucleolar transcription factor hUBF contains a DNA-binding motif with homology to HMG proteins.", "journal": "Nature", "date": "1990", "authors": "Jantzen HM, Admon A, Bell SP, Tjian R", "evidence": [ { "database": "UniProtKB", "id": "P17480", "url": "https://www.uniprot.org/uniprot/P17480" }, { "database": "Reactome", "id": "R-HSA-73728", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-73728" } ], "reference": [ { "type": "PubMed", "id": "2330041", "url": "https://glygen.org/publication/PubMed/2330041" } ] }, { "title": "Proteome wide purification and identification of O-GlcNAc-modified proteins using click chemistry and mass spectrometry.", "journal": "Journal of proteome research", "date": "2013", "authors": "Hahne H, Sobotzki N, Nyberg T, Helm D, Borodkin VS, van Aalten DM, Agnew B, Kuster B", "evidence": [ { "database": "O-GlcNAc Database", "id": "P17480", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P17480" } ], "reference": [ { "type": "PubMed", "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498" } ] }, { "title": "ABH2 couples regulation of ribosomal DNA transcription with DNA alkylation repair.", "journal": "Cell Rep.", "date": "2013", "authors": "Li P, Gao S, Wang L, Yu F, Li J, Wang C, Li J, Wong J", "evidence": [ { "database": "UniProtKB", "id": "P17480", "url": "https://www.uniprot.org/uniprot/P17480" } ], "reference": [ { "type": "PubMed", "id": "23972994", "url": "https://glygen.org/publication/PubMed/23972994" } ] }, { "title": "A novel RNA binding surface of the TAM domain of TIP5/BAZ2A mediates epigenetic regulation of rRNA genes.", "journal": "Nucleic acids research", "date": "2015", "authors": "Anosova I, Melnik S, Tripsianes K, Kateb F, Grummt I, Sattler M", "evidence": [ { "database": "Reactome", "id": "R-HSA-427413", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-427413" } ], "reference": [ { "type": "PubMed", "id": "25916849", "url": "https://glygen.org/publication/PubMed/25916849" } ] }, { "title": "The Warsaw breakage syndrome-related protein DDX11 is required for ribosomal RNA synthesis and embryonic development.", "journal": "Hum. Mol. Genet.", "date": "2015", "authors": "Sun X, Chen H, Deng Z, Hu B, Luo H, Zeng X, Han L, Cai G, Ma L", "evidence": [ { "database": "UniProtKB", "id": "P17480", "url": "https://www.uniprot.org/uniprot/P17480" } ], "reference": [ { "type": "PubMed", "id": "26089203", "url": "https://glygen.org/publication/PubMed/26089203" } ] }, { "title": "Structure of the initiation-competent RNA polymerase I and its implication for transcription.", "journal": "Nature communications", "date": "2016", "authors": "Pilsl M, Crucifix C, Papai G, Krupp F, Steinbauer R, Griesenbeck J, Milkereit P, Tschochner H, Schultz P", "evidence": [ { "database": "Reactome", "id": "R-HSA-73762", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-73762" } ], "reference": [ { "type": "PubMed", "id": "27418187", "url": "https://glygen.org/publication/PubMed/27418187" } ] }, { "title": "RNA polymerase I-Rrn3 complex at 4.8 A resolution.", "journal": "Nature communications", "date": "2016", "authors": "Engel C, Plitzko J, Cramer P", "evidence": [ { "database": "Reactome", "id": "R-HSA-73762", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-73762" } ], "reference": [ { "type": "PubMed", "id": "27418309", "url": "https://glygen.org/publication/PubMed/27418309" } ] }, { "title": "PICT-1 triggers a pro-death autophagy through inhibiting rRNA transcription and AKT/mTOR/p70S6K signaling pathway.", "journal": "Oncotarget", "date": "2016", "authors": "Wang L., Wang X., Wang Z., Zhang J., Chen H., Zhang F., Zhou L., Huang L., Hu B., Tsai H., Duo Y.", "evidence": [ { "database": "UniProtKB", "id": "P17480", "url": "https://www.uniprot.org/uniprot/P17480" } ], "reference": [ { "type": "PubMed", "id": "27729611", "url": "https://glygen.org/publication/PubMed/27729611" } ] }, { "title": "Molecular mechanisms governing species-specific transcription of ribosomal RNA.", "journal": "Cell", "date": "1989", "authors": "Bell SP, Pikaard CS, Reeder RH, Tjian R", "evidence": [ { "database": "Reactome", "id": "R-HSA-73762", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-73762" } ], "reference": [ { "type": "PubMed", "id": "2805069", "url": "https://glygen.org/publication/PubMed/2805069" } ] }, { "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": "P17480", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P17480" } ], "reference": [ { "type": "PubMed", "id": "28510447", "url": "https://glygen.org/publication/PubMed/28510447" } ] }, { "title": "Heterozygous de novo UBTF gain-of-function variant is associated with neurodegeneration in childhood.", "journal": "Am. J. Hum. Genet.", "date": "2017", "authors": "Edvardson S, Nicolae CM, Agrawal PB, Mignot C, Payne K, Prasad AN, Prasad C, Sadler L, Nava C, Mullen TE, Begtrup A, Baskin B, Powis Z, Shaag A, Keren B, Moldovan GL, Elpeleg O", "evidence": [ { "database": "UniProtKB", "id": "P17480", "url": "https://www.uniprot.org/uniprot/P17480" } ], "reference": [ { "type": "PubMed", "id": "28777933", "url": "https://glygen.org/publication/PubMed/28777933" } ] }, { "title": "Artificial Cysteine S-Glycosylation Induced by Per-O-Acetylated Unnatural Monosaccharides during Metabolic Glycan Labeling.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2018", "authors": "Qin W, Qin K, Fan X, Peng L, Hong W, Zhu Y, Lv P, Du Y, Huang R, Han M, Cheng B, Liu Y, Zhou W, Wang C, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "P17480", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P17480" } ], "reference": [ { "type": "PubMed", "id": "29237092", "url": "https://glygen.org/publication/PubMed/29237092" } ] }, { "title": "Mapping and Quantification of Over 2000 O-linked Glycopeptides in Activated Human T Cells with Isotope-Targeted Glycoproteomics (Isotag).", "journal": "Molecular & cellular proteomics : MCP", "date": "2018", "authors": "Woo CM, Lund PJ, Huang AC, Davis MM, Bertozzi CR, Pitteri SJ", "evidence": [ { "database": "O-GlcNAc Database", "id": "P17480", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P17480" }, { "database": "O-GlcNAc Atlas", "id": "P17480", "url": "https://oglcnac.org/atlas/detail/P17480" } ], "reference": [ { "type": "PubMed", "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928" } ] }, { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "P17480", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P17480" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "Protein kinase Ciota promotes UBF1-ECT2 binding on ribosomal DNA to drive rRNA synthesis and transformed growth of non-small-cell lung cancer cells.", "journal": "The Journal of biological chemistry", "date": "2020", "authors": "Justilien V, Lewis KC, Meneses KM, Jamieson L, Murray NR, Fields AP", "evidence": [ { "database": "iPTMnet", "id": "P17480", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P17480" } ], "reference": [ { "type": "PubMed", "id": "32350115", "url": "https://glygen.org/publication/PubMed/32350115" } ] }, { "title": "Methylation-directed glycosylation of chromatin factors represses retrotransposon promoters.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2020", "authors": "Boulard M, Rucli S, Edwards JR, Bestor TH", "evidence": [ { "database": "O-GlcNAc Database", "id": "P17480", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P17480" } ], "reference": [ { "type": "PubMed", "id": "32522876", "url": "https://glygen.org/publication/PubMed/32522876" } ] }, { "title": "Proteomic analysis of cisplatin- and oxaliplatin-induced phosphorylation in proteins bound to Pt-DNA adducts.", "journal": "Metallomics : integrated biometal science", "date": "2020-11-01", "authors": "Yuan Xin, Zhang Wanjun, He Yafeng, Yuan Jian, Song Dongfan, Chen Hao, Qin Weijie, Qian Xiaohong, Yu Hanyang, Guo Zijian", "evidence": [ { "database": "iPTMnet", "id": "P17480", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P17480" } ], "reference": [ { "type": "PubMed", "id": "33151228", "url": "https://glygen.org/publication/PubMed/33151228" } ] }, { "title": "Proteomic profiling and genome-wide mapping of O-GlcNAc chromatin-associated proteins reveal an O-GlcNAc-regulated genotoxic stress response.", "journal": "Nature communications", "date": "2020", "authors": "Liu Y, Chen Q, Zhang N, Zhang K, Dou T, Cao Y, Liu Y, Li K, Hao X, Xie X, Li W, Ren Y, Zhang J", "evidence": [ { "database": "O-GlcNAc Database", "id": "P17480", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P17480" } ], "reference": [ { "type": "PubMed", "id": "33214551", "url": "https://glygen.org/publication/PubMed/33214551" } ] }, { "title": "A new tandem enrichment strategy for the simultaneous profiling of O-GlcNAcylation and phosphorylation in RNA-binding proteome.", "journal": "The Analyst", "date": "2021", "authors": "Fan Z, Li J, Liu T, Zhang Z, Qin W, Qian X", "evidence": [ { "database": "O-GlcNAc Database", "id": "P17480", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P17480" }, { "database": "O-GlcNAc Atlas", "id": "P17480", "url": "https://oglcnac.org/atlas/detail/P17480" } ], "reference": [ { "type": "PubMed", "id": "33465208", "url": "https://glygen.org/publication/PubMed/33465208" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "P17480", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P17480" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "Synthesis of Na2S2O4 mediated cleavable affinity tag for labeling of O-GlcNAc modified proteins via azide-alkyne cycloaddition.", "journal": "Bioorganic & medicinal chemistry letters", "date": "2021", "authors": "Wang J, Dou B, Zheng L, Cao W, Zeng X, Wen Y, Ma J, Li X", "evidence": [ { "database": "O-GlcNAc Database", "id": "P17480", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P17480" } ], "reference": [ { "type": "PubMed", "id": "34229054", "url": "https://glygen.org/publication/PubMed/34229054" } ] }, { "title": "UBTF-internal tandem duplication as a novel poor prognostic factor in pediatric acute myeloid leukemia.", "journal": "Genes, chromosomes & cancer", "date": "2022-11-30", "authors": "Kaburagi Taeko, Shiba Norio, Yamato Genki, Yoshida Kenichi, Tabuchi Ken, Ohki Kentaro, Ishikita Etsuko, Hara Yusuke, Shiraishi Yuichi, Kawasaki Hirohide, Sotomatsu Manabu, Takizawa Takumi, Taki Tomohiko, Kiyokawa Nobutaka, Tomizawa Daisuke, Horibe Keizo, Miyano Satoru, Taga Takashi, Adachi Souichi, Ogawa Seishi, Hayashi Yasuhide", "evidence": [ { "database": "RefSeq", "id": "NP_001070151", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001070151" } ], "reference": [ { "type": "PubMed", "id": "36448876", "url": "https://glygen.org/publication/PubMed/36448876" } ] }, { "title": "UBTF tandem duplications define a distinct subtype of adult de novo acute myeloid leukemia.", "journal": "Leukemia", "date": "2023-04-21", "authors": "Duployez Nicolas, Vasseur Lo\u00efc, Kim Rathana, Largeaud La\u00ebtitia, Passet Marie, L'Haridon Ana\u00efs, Lemaire Pierre, Fenwarth Laur\u00e8ne, Geffroy Sandrine, Helevaut Nathalie, Celli-Lebras Karine, Ad\u00e8s Lionel, Lebon Delphine, Berthon C\u00e9line, Marceau-Renaut Alice, Cheok Meyling, Lambert Juliette, R\u00e9cher Christian, Raffoux Emmanuel, Micol Jean-Baptiste, Pigneux Arnaud, Gardin Claude, Delabesse Eric, Soulier Jean, Hunault Mathilde, Dombret Herv\u00e9, Itzykson Raphael, Clappier Emmanuelle, Preudhomme Claude", "evidence": [ { "database": "RefSeq", "id": "NP_001070151", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001070151" } ], "reference": [ { "type": "PubMed", "id": "37085611", "url": "https://glygen.org/publication/PubMed/37085611" } ] }, { "title": "Extracellular arginine availability modulates eIF2\u03b1 O-GlcNAcylation and heme oxygenase 1 translation for cellular homeostasis.", "journal": "Journal of biomedical science", "date": "2023-05-22", "authors": "Hung Yu-Wen, Ouyang Ching, Ping Xiaoli, Qi Yue, Wang Yi-Chang, Kung Hsing-Jien, Ann David K", "evidence": [ { "database": "O-GlcNAc Database", "id": "P17480", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P17480" } ], "reference": [ { "type": "PubMed", "id": "37217939", "url": "https://glygen.org/publication/PubMed/37217939" } ] }, { "title": "UBTF tandem duplications are rare but recurrent alterations in adult AML and associated with younger age, myelodysplasia, and inferior outcome.", "journal": "Blood cancer journal", "date": "2023-05-26", "authors": "Georgi Julia-Annabell, Stasik Sebastian, Eckardt Jan-Niklas, Zukunft Sven, Hartwig Marita, R\u00f6llig Christoph, Middeke Jan Moritz, Oelschl\u00e4gel Uta, Krug Utz, Sauer Tim, Scholl Sebastian, Hochhaus Andreas, Br\u00fcmmendorf Tim H, Naumann Ralph, Steffen Bj\u00f6rn, Einsele Hermann, Schaich Markus, Burchert Andreas, Neubauer Andreas, Sch\u00e4fer-Eckart Kerstin, Schliemann Christoph, Krause Stefan W, H\u00e4nel Mathias, Noppeney Richard, Kaiser Ulrich, Baldus Claudia D, Kaufmann Martin, M\u00fcller-Tidow Carsten, Platzbecker Uwe, Berdel Wolfgang E, Serve Hubert, Ehninger Gerhard, Bornh\u00e4user Martin, Schetelig Johannes, Kroschinsky Frank, Thiede Christian,", "evidence": [ { "database": "RefSeq", "id": "NP_001070151", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001070151" } ], "reference": [ { "type": "PubMed", "id": "37236968", "url": "https://glygen.org/publication/PubMed/37236968" } ] }, { "title": "FGF13A interacts with NPM1 and UBF and inhibits the invasion of bladder cancer cells.", "journal": "Biochemical and biophysical research communications", "date": "2023-10-20", "authors": "Han Dong, Guan Lei, Zhang Yingying, Yang Huan, Si Libu, Jia Tongyu, Wu Yangyang, Lv Kaikai, Song Tao, Yang Guang", "evidence": [ { "database": "RefSeq", "id": "NP_001070151", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001070151" } ], "reference": [ { "type": "PubMed", "id": "37603967", "url": "https://glygen.org/publication/PubMed/37603967" } ] }, { "title": "Coactivator and promoter-selective properties of RNA polymerase I TAFs.", "journal": "Science", "date": "1995", "authors": "Beckmann H, Chen JL, O'Brien T, Tjian R", "evidence": [ { "database": "UniProtKB", "id": "P17480", "url": "https://www.uniprot.org/uniprot/P17480" }, { "database": "Reactome", "id": "R-HSA-73762", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-73762" } ], "reference": [ { "type": "PubMed", "id": "7491500", "url": "https://glygen.org/publication/PubMed/7491500" } ] }, { "title": "Molecular coevolution of mammalian ribosomal gene terminator sequences and the transcription termination factor TTF-I.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1995", "authors": "Evers R, Grummt I", "evidence": [ { "database": "Reactome", "id": "R-HSA-427413", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-427413" } ], "reference": [ { "type": "PubMed", "id": "7597036", "url": "https://glygen.org/publication/PubMed/7597036" } ] }, { "title": "Reconstitution of transcription factor SL1: exclusive binding of TBP by SL1 or TFIID subunits.", "journal": "Science (New York, N.Y.)", "date": "1994", "authors": "Comai L, Zomerdijk JC, Beckmann H, Zhou S, Admon A, Tjian R", "evidence": [ { "database": "Reactome", "id": "R-HSA-73762", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-73762" } ], "reference": [ { "type": "PubMed", "id": "7801123", "url": "https://glygen.org/publication/PubMed/7801123" } ] }, { "title": "The RNA polymerase I transcription factor, upstream binding factor, interacts directly with the TATA box-binding protein.", "journal": "J. Biol. Chem.", "date": "1994", "authors": "Green M.R., Kwon H.", "evidence": [ { "database": "UniProtKB", "id": "P17480", "url": "https://www.uniprot.org/uniprot/P17480" } ], "reference": [ { "type": "PubMed", "id": "7982918", "url": "https://glygen.org/publication/PubMed/7982918" } ] }, { "title": "Cloning and functional characterization of PTRF, a novel protein which induces dissociation of paused ternary transcription complexes.", "journal": "The EMBO journal", "date": "1998", "authors": "Jansa P, Mason SW, Hoffmann-Rohrer U, Grummt I", "evidence": [ { "database": "Reactome", "id": "R-HSA-73863", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-73863" } ], "reference": [ { "type": "PubMed", "id": "9582279", "url": "https://glygen.org/publication/PubMed/9582279" } ] } ], "pathway": [ { "id": "hsa:7343", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:7343", "resource": "KEGG Pathway" }, { "id": "R-HSA-427413", "name": "NoRC negatively regulates rRNA 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