{ "uniprot_canonical_ac": "Q15061-1", "uniprot_ac": "Q15061", "uniprot_id": "WDR43_HUMAN", "mass": { "chemical_mass": 74891.0, "monoisotopic_mass": 74891.0 }, "refseq": { "ac": "NP_055946", "name": "WD repeat-containing protein 43", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055946" }, "gene_names": [ { "name": "WDR43", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q15061", "id": "Q15061" }, { "name": "KIAA0007", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q15061", "id": "Q15061" }, { "name": "NET12; UTP5", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055946", "id": "NP_055946" }, { "name": "UTP5", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q15061", "id": "Q15061" }, { "name": "WDR43", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055946", "id": "NP_055946" } ], "protein_names": [ { "name": "WD repeat-containing protein 43", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q15061" }, { "name": "U3 small nucleolar RNA-associated protein 5 homolog", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q15061" }, { "name": "UTP5, small subunit (SSU) processome component, homolog; U3 small nucleolar RNA-associated protein 5 homolog", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055946", "id": "NP_055946" }, { "name": "WD repeat-containing protein 43", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055946", "id": "NP_055946" } ], "function": [ { "annotation": "RNA targets ribogenesis Factor WDR43 to chromatin for transcription and pluripotency control.", "evidence": [ { "database": "RefSeq", "id": "NP_055946", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055946" }, { "database": "PubMed", "id": "31128943", "url": "https://glygen.org/publication/PubMed/31128943" } ] }, { "annotation": "Ribosome biogenesis factor that coordinates hyperactive transcription and ribogenesis (PubMed:17699751). Part of the small subunit (SSU) processome, first precursor of the small eukaryotic ribosomal subunit. During the assembly of the SSU processome in the nucleolus, many ribosome biogenesis factors, an RNA chaperone and ribosomal proteins associate with the nascent pre-rRNA and work in concert to generate RNA folding, modifications, rearrangements and cleavage as well as targeted degradation of pre-ribosomal RNA by the RNA exosome. Involved in nucleolar processing of pre-18S ribosomal RNA. Required for optimal pre-ribosomal RNA transcription by RNA polymerase I (PubMed:17699751, PubMed:34516797). Essential for stem cell pluripotency and embryonic development. In the nucleoplasm, recruited by promoter-associated/nascent transcripts and transcription to active promoters where it facilitates releases of elongation factor P-TEFb and paused RNA polymerase II to allow transcription elongation and maintain high-level expression of its targets genes (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "Q15061", "url": "https://www.uniprot.org/uniprot/Q15061#function" }, { "database": "PubMed", "id": "17699751", "url": "https://glygen.org/publication/PubMed/17699751" }, { "database": "UniProtKB", "id": "Q6ZQL4", "url": "https://www.uniprot.org/uniprot/Q6ZQL4#function" }, { "database": "PubMed", "id": "34516797", "url": "https://glygen.org/publication/PubMed/34516797" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs201593190", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201593190" }, { "id": "rs201593190", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs201593190" }, { "id": "rs201593190", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201593190" }, { "id": "rs201593190", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs201593190#frequency_tab" }, { "id": "rs201593190", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs201593190" } ], "glycoeffect": [ "n-glyco-sequon-gain", "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 170, "end_pos": 170, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SVS->NVS).", "chr_id": "2", "chr_pos": "28912613", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.001398", "site_lbl": "S170", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs747026980", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747026980" }, { "id": "rs747026980", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747026980" }, { "id": "rs747026980", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs747026980" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 203, "end_pos": 203, "sequence_org": "H", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (HFT->NFT).", "chr_id": "2", "chr_pos": "28914069", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H203", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs769455045", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769455045" }, { "id": "rs769455045", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769455045" }, { "id": "rs769455045", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs769455045" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 306, "end_pos": 306, "sequence_org": "Y", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NGY->NGS).", "chr_id": "2", "chr_pos": "28924984", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y306", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs775987266", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775987266" }, { "id": "rs775987266", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775987266" }, { "id": "rs775987266", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs775987266#frequency_tab" }, { "id": "rs775987266", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775987266" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 314, "end_pos": 314, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NCT->SCT).", "chr_id": "2", "chr_pos": "28925008", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N314", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs375342806", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs375342806" }, { "id": "rs375342806", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs375342806" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 316, "end_pos": 316, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NCT->NCA).", "chr_id": "2", "chr_pos": "28925013", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T316", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q15061", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/Q15061" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 390, "end_pos": 390, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "K", "comment": "Somatic mutation passed 1 out of 6 filters: o-glyco-site-loss (T->K).", "chr_id": "2", "chr_pos": "28926550", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T390", "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": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "74.2", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000163811", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000163811" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "81.53", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000163811", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000163811" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "84.22", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000163811", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000163811" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "49.96", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000163811", "url": 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"91.37", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000163811", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000163811" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "84.26", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000163811", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000163811" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "87.77", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000163811", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000163811" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "Q15061", "url": 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"" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, 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"https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "Q15061", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q15061" } ], "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 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"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", 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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": "Q15061", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q15061" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "Q15061", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q15061" } ], "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": "Yes", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "Q15061", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q15061" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "Q15061", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q15061" } ], "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": "No", "trend": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "Q15061", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q15061" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "Q15061", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q15061" } ], "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", 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"OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR44267", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR44267", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR44267:SF1", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR44267:SF1", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "7MQ8", "url": "https://www.rcsb.org/structure/7MQ8", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7MQ9", "url": "https://www.rcsb.org/structure/7MQ9", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7MQA", "url": "https://www.rcsb.org/structure/7MQA", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00400", "url": "http://pfam.xfam.org/family/PF00400", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF04003", "url": "http://pfam.xfam.org/family/PF04003", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "Q15061", "url": "https://pharos.nih.gov/targets/Q15061", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR:000057288", "url": "https://proconsortium.org/app/entry/PR:000057288", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR_Q15061", "url": "http://purl.obolibrary.org/obo/PR_Q15061", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-6790901", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6790901", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-6791226", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6791226", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_055946", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055946", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "Q15061", "url": "DISABLED", "database": "UniCarbKB", "categories": [ "Glycoproteomics" ] }, { "id": "C9IZK7", "url": "https://www.uniprot.org/uniprot/C9IZK7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9IZK7-1", "url": "https://www.uniprot.org/uniprot/C9IZK7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JEE7", "url": "https://www.uniprot.org/uniprot/C9JEE7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JEE7-1", "url": "https://www.uniprot.org/uniprot/C9JEE7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JH61", "url": "https://www.uniprot.org/uniprot/C9JH61", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JH61-1", "url": "https://www.uniprot.org/uniprot/C9JH61-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q15061", "url": "https://www.uniprot.org/uniprot/Q15061", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q15061-1", "url": "https://www.uniprot.org/uniprot/Q15061-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MAAGGGGSCDPLAPAGVPCAFSPHSQAYFALASTDGHLRVWETANNRLHQEYVPSAHLSGTCTCLAWAPARLQAKESPQRKKRKSEAVGMSNQTDLLALGTAVGSILLYSTVKGELHSKLISGGHDNRVNCIQWHQDSGCLYSCSDDKHIVEWNVQTCKVKCKWKGDNSSVSSLCISPDGKMLLSAGRTIKLWVLETKEVYRHFTGHATPVSSLMFTTIRPPNESQPFDGITGLYFLSGAVHDRLLNVWQVRSENKEKSAVMSFTVTDEPVYIDLTLSENKEEPVKLAVVCRDGQVHLFEHILNGYCKKPLTSNCTIQIATPGKGKKSTPKPIPILAAGFCSDKMSLLLVYGSWFQPTIERVALNSREPHMCLVRDISNCWAPKVETAITKVRTPVMNSEAKVLVPGIPGHHAAIKPAPPQTEQVESKRKSGGNEVSIEERLGAMDIDTHKKGKEDLQTNSFPVLLTQGLESNDFEMLNKVLQTRNVNLIKKTVLRMPLHTIIPLLQELTKRLQGHPNSAVLMVQWLKCVLTVHASYLSTLPDLVPQLGTLYQLMESRVKTFQKLSHLHGKLILLITQVTASEKTKGATSPGQKAKLVYEEESSEEESDDEIADKDSEDNWDEDEEESESEKDEDVEEEDEDAEGKDEENGEDRDTASEKELNGDSDLDPENESEEE", "length": 677, "header": "sp|Q15061-1|WDR43_HUMAN Isoform 1 of WD repeat-containing protein 43 OS=Homo sapiens OX=9606 GN=WDR43 PE=1 SV=3 CANONICAL=Q15061-1" }, "isoforms": [ { "isoform_ac": "C9IZK7-1", "url": "", "sequence": { "sequence": "MLLSAGRTIKLWVLETKEVYRHFTGHATPVSSLMFTTIRPPNESQPFDGITGLYFLSGAVHDRLLNVWQVRSENKEKSAVMSFTVTDEPVYIDLTLSENKEEPVKLAVVCRDGQVHLFEHILNGYCKKPLTSNCTIQIATPGKGKKSTPKPIPILAAGFCSDKMSLLLVYGSWFQPTIERVALNSRE", "length": 187, "header": "tr|C9IZK7-1|C9IZK7_HUMAN Computationally mapped isoform of WD repeat domain 43 OS=Homo sapiens OX=9606 GN=WDR43 PE=1 SV=1 CANONICAL=Q15061-1" }, "locus": { "chromosome": "2", "start_pos": 28926485, "end_pos": 28912648, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000296126.6", "url": "https://www.ensembl.org/id/ENST00000296126.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000296126.6", "url": "https://www.ensembl.org/id/ENSP00000296126.6" } ] } }, { "isoform_ac": "C9JEE7-1", "url": "", "sequence": { "sequence": "MSNQTDLLALGTAVGSILLYSTVKGELHSKLISGGHDNRVNCIQWHQDSGCLYSCSDDKHIVEWNVQTCKVKCKWKGDNSSVSSLCISPDGKMLLSAGRTIKLWVLETKEVYRHFTGHATPVSSLMFTTIRPPNESQPFDGITGLYF", "length": 147, "header": "tr|C9JEE7-1|C9JEE7_HUMAN Computationally mapped isoform of WD repeat domain 43 OS=Homo sapiens OX=9606 GN=WDR43 PE=1 SV=1 CANONICAL=Q15061-1" }, "locus": { "chromosome": "2", "start_pos": 28914170, "end_pos": 28902029, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000440983.1", "url": "https://www.ensembl.org/id/ENST00000440983.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000415355.1", "url": "https://www.ensembl.org/id/ENSP00000415355.1" } ] } }, { "isoform_ac": "C9JH61-1", "url": "", "sequence": { "sequence": "MSNQTDLLALGTAVGSILLYSTVKG", "length": 25, "header": "tr|C9JH61-1|C9JH61_HUMAN Computationally mapped isoform of WD repeat domain 43 OS=Homo sapiens OX=9606 GN=WDR43 PE=1 SV=1 CANONICAL=Q15061-1" }, "locus": { "chromosome": "2", "start_pos": 28902103, "end_pos": 28902029, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000434238.1", "url": "https://www.ensembl.org/id/ENST00000434238.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000390363.1", "url": "https://www.ensembl.org/id/ENSP00000390363.1" } ] } }, { "isoform_ac": "Q15061-1", "url": "", "sequence": { "sequence": "MAAGGGGSCDPLAPAGVPCAFSPHSQAYFALASTDGHLRVWETANNRLHQEYVPSAHLSGTCTCLAWAPARLQAKESPQRKKRKSEAVGMSNQTDLLALGTAVGSILLYSTVKGELHSKLISGGHDNRVNCIQWHQDSGCLYSCSDDKHIVEWNVQTCKVKCKWKGDNSSVSSLCISPDGKMLLSAGRTIKLWVLETKEVYRHFTGHATPVSSLMFTTIRPPNESQPFDGITGLYFLSGAVHDRLLNVWQVRSENKEKSAVMSFTVTDEPVYIDLTLSENKEEPVKLAVVCRDGQVHLFEHILNGYCKKPLTSNCTIQIATPGKGKKSTPKPIPILAAGFCSDKMSLLLVYGSWFQPTIERVALNSREPHMCLVRDISNCWAPKVETAITKVRTPVMNSEAKVLVPGIPGHHAAIKPAPPQTEQVESKRKSGGNEVSIEERLGAMDIDTHKKGKEDLQTNSFPVLLTQGLESNDFEMLNKVLQTRNVNLIKKTVLRMPLHTIIPLLQELTKRLQGHPNSAVLMVQWLKCVLTVHASYLSTLPDLVPQLGTLYQLMESRVKTFQKLSHLHGKLILLITQVTASEKTKGATSPGQKAKLVYEEESSEEESDDEIADKDSEDNWDEDEEESESEKDEDVEEEDEDAEGKDEENGEDRDTASEKELNGDSDLDPENESEEE", "length": 677, "header": "sp|Q15061-1|WDR43_HUMAN Isoform 1 of WD repeat-containing protein 43 OS=Homo sapiens OX=9606 GN=WDR43 PE=1 SV=3 CANONICAL=Q15061-1" }, "locus": { "chromosome": "2", "start_pos": 28946776, "end_pos": 28894699, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000407426.8", "url": "https://www.ensembl.org/id/ENST00000407426.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000384302.3", "url": "https://www.ensembl.org/id/ENSP00000384302.3" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G68318VE", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 314, "start_aa": "Asn", "end_pos": 314, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn314", "evidence": [ { "id": "Q15061", "database": "UniCarbKB", "url": "" }, { "id": "26791533", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26791533" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 390, "start_aa": "Thr", "end_pos": 390, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr390", "evidence": [ { "id": "Q15061", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q15061" }, { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" }, { "id": "30620550", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30620550" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "Q15061", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q15061" } ] } ], "phosphorylation": [ { "start_pos": 321, "end_pos": 321, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "Q15061", "url": "https://www.uniprot.org/uniprot/Q15061" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q15061", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15061" } ], "site_lbl": "Thr321" }, { "start_pos": 394, "end_pos": 394, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "Q15061", "url": "https://www.uniprot.org/uniprot/Q15061" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q15061", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15061" } ], "site_lbl": "Thr394" }, { "start_pos": 399, "end_pos": 399, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q15061", "url": "https://www.uniprot.org/uniprot/Q15061" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "iPTMnet", "id": "Q15061", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15061" } ], "site_lbl": "Ser399" }, { "start_pos": 431, "end_pos": 431, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q15061", "url": "https://www.uniprot.org/uniprot/Q15061" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "16964243", "url": "https://glygen.org/publication/PubMed/16964243" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" }, { "database": "phospho.ELM", "id": "Q15061", "url": "http://phospho.elm.eu.org/byAccession/Q15061.html" }, { "database": "iPTMnet", "id": "Q15061", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15061" }, { "database": "PubMed", "id": "16565220", "url": "https://glygen.org/publication/PubMed/16565220" } ], "site_lbl": "Ser431" }, { "start_pos": 437, "end_pos": 437, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q15061", "url": "https://www.uniprot.org/uniprot/Q15061" }, { "database": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" }, { "database": "iPTMnet", "id": "Q15061", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15061" } ], "site_lbl": "Ser437" }, { "start_pos": 590, "end_pos": 590, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q15061", "url": "https://www.uniprot.org/uniprot/Q15061" }, { "database": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" }, { "database": "iPTMnet", "id": "Q15061", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15061" } ], "site_lbl": "Ser590" }, { "start_pos": 656, "end_pos": 656, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "Q15061", "url": "https://www.uniprot.org/uniprot/Q15061" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" }, { "database": "iPTMnet", "id": "Q15061", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15061" } ], "site_lbl": "Thr656" }, { "start_pos": 658, "end_pos": 658, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q15061", "url": "https://www.uniprot.org/uniprot/Q15061" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" }, { "database": "iPTMnet", "id": "Q15061", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15061" } ], "site_lbl": "Ser658" }, { "start_pos": 77, "end_pos": 77, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q15061", "url": "https://www.uniprot.org/uniprot/Q15061" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" }, { "database": "phospho.ELM", "id": "Q15061", "url": "http://phospho.elm.eu.org/byAccession/Q15061.html" }, { "database": "iPTMnet", "id": "Q15061", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q15061" } ], "site_lbl": "Ser77" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Human Nop5/Nop58 is a component common to the box C/D small nucleolar ribonucleoproteins.", "journal": "RNA (New York, N.Y.)", "date": "1999", "authors": "Lyman SK, Gerace L, Baserga SJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-6790901", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6790901" } ], "reference": [ { "type": "PubMed", "id": "10606270", "url": "https://glygen.org/publication/PubMed/10606270" } ] }, { "title": "A common core RNP structure shared between the small nucleoar box C/D RNPs and the spliceosomal U4 snRNP.", "journal": "Cell", "date": "2000", "authors": "Watkins NJ, Segault V, Charpentier B, Nottrott S, Fabrizio P, Bachi A, Wilm M, Rosbash M, Branlant C, Luhrmann R", "evidence": [ { "database": "Reactome", "id": "R-HSA-6790901", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6790901" } ], "reference": [ { "type": "PubMed", "id": "11081632", "url": "https://glygen.org/publication/PubMed/11081632" } ] }, { "title": "Isolation and proteomic characterization of the major proteins of the nucleolin-binding ribonucleoprotein complexes.", "journal": "Proteomics", "date": "2001", "authors": "Yanagida M, Shimamoto A, Nishikawa K, Furuichi Y, Isobe T, Takahashi N", "evidence": [ { "database": "Reactome", "id": "R-HSA-6791226", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6791226" } ], "reference": [ { "type": "PubMed", "id": "11922599", "url": "https://glygen.org/publication/PubMed/11922599" } ] }, { "title": "Nep1p (Emg1p), a novel protein conserved in eukaryotes and archaea, is involved in ribosome biogenesis.", "journal": "Current genetics", "date": "2002", "authors": "Eschrich D, Buchhaupt M, Kotter P, Entian KD", "evidence": [ { "database": "Reactome", "id": "R-HSA-6790901", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6790901" } ], "reference": [ { "type": "PubMed", "id": "11935223", "url": "https://glygen.org/publication/PubMed/11935223" } ] }, { "title": "Characterization of two novel genes, WBSCR20 and WBSCR22, deleted in Williams-Beuren syndrome.", "journal": "Cytogenetics and cell genetics", "date": "2001", "authors": "Doll A, Grzeschik KH", "evidence": [ { "database": "Reactome", "id": "R-HSA-6790901", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6790901" } ], "reference": [ { "type": "PubMed", "id": "11978965", "url": "https://glygen.org/publication/PubMed/11978965" } ] }, { "title": "A large nucleolar U3 ribonucleoprotein required for 18S ribosomal RNA biogenesis.", "journal": "Nature", "date": "2002", "authors": "Dragon F, Gallagher JE, Compagnone-Post PA, Mitchell BM, Porwancher KA, Wehner KA, Wormsley S, Settlage RE, Shabanowitz J, Osheim Y, Beyer AL, Hunt DF, Baserga SJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-6791226", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6791226" } ], "reference": [ { "type": "PubMed", "id": "12068309", "url": "https://glygen.org/publication/PubMed/12068309" } ] }, { "title": "90S pre-ribosomes include the 35S pre-rRNA, the U3 snoRNP, and 40S subunit processing factors but predominantly lack 60S synthesis factors.", "journal": "Molecular cell", "date": "2002", "authors": "Grandi P, Rybin V, Bassler J, Petfalski E, Strauss D, 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"sequence": { "sequence": "MAAGGGGSYDPLAPAGVPCAFSPDSQAYFALASSDGQLRVWETANNRLHQEYVPSAHLSGTCTCLAWAPARLQAKESHQRKKRKSEVTGTKDQADLLALGTAVGSILLYSTVRGELHSKLTSGGHENRVNCIQWHQDNDCLYSCSDDKYIVEWSTQTCKVKCKWKGDNSSVSSLCISPDGKMLLSAGRTIKLWVLETKEVYRHFTGHATPVSSLRFTTIRPNESQPSDGITGLYFLSGAVHDRLLNVWQVRSENKEKSAVMSFTVTDEPVYVDLTLSENKEEPVKLAVVCRDGQVHLFEHILNGHCKKPLTSNCTIQIATPGKGKKVTPKPIPILAASFCLDKMSLLLVYGNWFQPTIERVALNSKDTHICLERDISNCWAPTVETAITKVKTPVMNSEAKVLVPGIPGHHAPIKLPPAQPKEAENKRKLGSTEATIEERLGAMDLDRKGRKDDLQTNSFAVLLTQGLESNDFEILNKVLQTKNVNLIKRTVLRIPLRVVIPLLQELTKRLQGHPNSAALMIQWLKCVLTIHASYLSTLPDLVEQLGTLYQLMESRVKTFQKLSNLHGKLILLVTQVTASEKSKKMTSPGQKAKLVYEEESSEEESDDEVPEKDSDDNWDEDEDKDSEKDEGVDEDNEEEDEDMEDKEENEEDREVSSEKELNGDSDLDPENESEEE", "length": 677 }, "evidence": [ { "id": "45225152", "url": "http://www.informatics.jax.org/homology/45225152", "database": "MGI" }, { "id": "Q15061", "url": "https://omabrowser.org/oma/group/Q15061/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Biological Process", "total": 6, "go_terms": [ { "name": "positive regulation of rRNA processing", "id": "GO:2000234", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000234", "evidence": [ { "database": "UniProtKB", "id": "Q15061", "url": "https://www.uniprot.org/uniprot/Q15061" } ], "pmid": "" }, { "name": "regulation of transcription elongation by RNA polymerase II", "id": "GO:0034243", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034243", "evidence": [ { "database": "UniProtKB", "id": "Q15061", "url": "https://www.uniprot.org/uniprot/Q15061" } ], "pmid": "" }, { "name": "positive regulation of transcription by RNA polymerase I", "id": "GO:0045943", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045943", "evidence": [ { "database": "UniProtKB", "id": "Q15061", "url": "https://www.uniprot.org/uniprot/Q15061" } ], "pmid": "" }, { "name": "regulation of stem cell population maintenance", "id": "GO:2000036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000036", "evidence": [ { "database": "UniProtKB", "id": "Q15061", "url": "https://www.uniprot.org/uniprot/Q15061" } ], "pmid": "" }, { "name": "maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)", "id": "GO:0000462", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000462", "evidence": [ { "database": "UniProtKB", "id": "Q15061", "url": "https://www.uniprot.org/uniprot/Q15061" } ], "pmid": "" }, { "name": "ribosomal small subunit biogenesis", "id": "GO:0042274", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042274", "evidence": [ { "database": "UniProtKB", "id": "Q15061", "url": "https://www.uniprot.org/uniprot/Q15061" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 3, "go_terms": [ { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "Q15061", "url": "https://www.uniprot.org/uniprot/Q15061" } ], "pmid": "" }, { "name": "RNA polymerase II complex binding", "id": "GO:0000993", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000993", "evidence": [ { "database": "UniProtKB", "id": "Q15061", "url": "https://www.uniprot.org/uniprot/Q15061" } ], "pmid": "" }, { "name": "transcription elongation factor activity", "id": "GO:0003711", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003711", "evidence": [ { "database": "UniProtKB", "id": "Q15061", "url": "https://www.uniprot.org/uniprot/Q15061" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 5, "go_terms": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q15061", "url": "https://www.uniprot.org/uniprot/Q15061" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "Q15061", "url": "https://www.uniprot.org/uniprot/Q15061" } ], "pmid": "" }, { "name": "fibrillar center", "id": "GO:0001650", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001650", "evidence": [ { "database": "UniProtKB", "id": "Q15061", "url": "https://www.uniprot.org/uniprot/Q15061" } ], "pmid": "" }, { "name": "chromatin", "id": "GO:0000785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000785", "evidence": [ { "database": "UniProtKB", "id": "Q15061", "url": "https://www.uniprot.org/uniprot/Q15061" } ], "pmid": "" }, { "name": "small-subunit processome", "id": "GO:0032040", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032040", "evidence": [ { "database": "UniProtKB", "id": "Q15061", "url": "https://www.uniprot.org/uniprot/Q15061" } ], "pmid": "" } ] } ] }, "pro_annotation": [ { "name": "WD repeat-containing protein 43 N-glycosylated 1 (human)", "definition": "A WD repeat-containing protein 43 (human) that has been N-glycosylated at the residue equivalent to Asn-314 of the amino acid sequence represented by UniProtKB:Q15061-1, in which the glycan composition is represented by GlyTouCan:G68318VE. Example: UniProtKB:Q15061-1, Asn-314, MOD:00160~GNO:G68318VE. [PRO:DNx, PMID:26791533]", "evidence": [ { "id": "PR:000057288", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000057288" } ] } ], "site_annotation": [ { "start_pos": 168, "end_pos": 170, "annotation": "n_glycosylation_sequon" }, { "start_pos": 223, "end_pos": 225, "annotation": "n_glycosylation_sequon" }, { "start_pos": 314, "end_pos": 316, "annotation": "n_glycosylation_sequon" }, { "start_pos": 672, "end_pos": 674, "annotation": "n_glycosylation_sequon" }, { "start_pos": 92, "end_pos": 94, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 }, { "field": "n_linked_glycans", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 }, { "field": "n_linked_glycans", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 9 }, { "field": "total_sites", "count": 9 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 6 }, { "field": "total_sites", "count": 6 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 5 }, { "field": "total_sites", "count": 5 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 78 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }