{ "uniprot_canonical_ac": "O75533-1", "uniprot_ac": "O75533", "uniprot_id": "SF3B1_HUMAN", "mass": { "chemical_mass": 145830.0, "monoisotopic_mass": 145830.0 }, "refseq": { "ac": "NP_036565", "name": "splicing factor 3B subunit 1 isoform 1", "summary": "This gene encodes subunit 1 of the splicing factor 3b protein complex. Splicing factor 3b, together with splicing factor 3a and a 12S RNA unit, forms the U2 small nuclear ribonucleoproteins complex (U2 snRNP). The splicing factor 3b/3a complex binds pre-mRNA upstream of the intron's branch site in a sequence independent manner and may anchor the U2 snRNP to the pre-mRNA. Splicing factor 3b is also a component of the minor U12-type spliceosome. The carboxy-terminal two-thirds of subunit 1 have 22 non-identical, tandem HEAT repeats that form rod-like, helical structures. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036565" }, "gene_names": [ { "name": "SF3B1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O75533", "id": "O75533" }, { "name": "Hsh155; MDS; PRP10; PRPF10; SAP155; SF3b155", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036565", "id": "NP_036565" }, { "name": "SAP155", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75533", "id": "O75533" }, { "name": "SF3B1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036565", "id": "NP_036565" } ], "protein_names": [ { "name": "Splicing factor 3B subunit 1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O75533" }, { "name": "Pre-mRNA-splicing factor SF3b 155 kDa subunit", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75533" }, { "name": "SAP 155", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75533" }, { "name": "SF3b155", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75533" }, { "name": "Spliceosome-associated protein 155", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75533" }, { "name": "pre-mRNA splicing factor SF3b, 155 kDa subunit; pre-mRNA processing 10; spliceosome-associated protein 155; splicing factor 3b, subunit 1, 155kDa", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036565", "id": "NP_036565" }, { "name": "splicing factor 3B subunit 1 isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036565", "id": "NP_036565" } ], "function": [ { "annotation": "Component of the 17S U2 SnRNP complex of the spliceosome, a large ribonucleoprotein complex that removes introns from transcribed pre-mRNAs (PubMed:12234937, PubMed:27720643, PubMed:32494006, PubMed:34822310). The 17S U2 SnRNP complex (1) directly participates in early spliceosome assembly and (2) mediates recognition of the intron branch site during pre-mRNA splicing by promoting the selection of the pre-mRNA branch-site adenosine, the nucleophile for the first step of splicing (PubMed:32494006, PubMed:34822310). Within the 17S U2 SnRNP complex, SF3B1 is part of the SF3B subcomplex, which is required for 'A' complex assembly formed by the stable binding of U2 snRNP to the branchpoint sequence in pre-mRNA (PubMed:12234937). Sequence independent binding of SF3A and SF3B subcomplexes upstream of the branch site is essential, it may anchor U2 snRNP to the pre-mRNA (PubMed:12234937). May also be involved in the assembly of the 'E' complex (PubMed:10882114). Also acts as a component of the minor spliceosome, which is involved in the splicing of U12-type introns in pre-mRNAs (PubMed:15146077, PubMed:33509932). Together with other U2 snRNP complex components may also play a role in the selective processing of microRNAs (miRNAs) from the long primary miRNA transcript, pri-miR-17-92 (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "O75533", "url": "https://www.uniprot.org/uniprot/O75533#function" }, { "database": "PubMed", "id": "12234937", "url": "https://glygen.org/publication/PubMed/12234937" }, { "database": "UniProtKB", "id": "Q99NB9", "url": "https://www.uniprot.org/uniprot/Q99NB9#function" }, { "database": "PubMed", "id": "27720643", "url": "https://glygen.org/publication/PubMed/27720643" }, { "database": "PubMed", "id": "15146077", "url": "https://glygen.org/publication/PubMed/15146077" }, { "database": "PubMed", "id": "33509932", "url": "https://glygen.org/publication/PubMed/33509932" }, { "database": "PubMed", "id": "10882114", "url": "https://glygen.org/publication/PubMed/10882114" }, { "database": "PubMed", "id": "32494006", "url": "https://glygen.org/publication/PubMed/32494006" }, { "database": "PubMed", "id": "34822310", "url": "https://glygen.org/publication/PubMed/34822310" } ] }, { "annotation": "IMMUNOPHENOTYPE OF LEUKEMIC CELLS IN CHRONIC LYMPHOCYTIC LEUKEMIA PATIENTS WITH NOTCH1 AND SF3B1 GENE MUTATIONS. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_036565", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036565" }, { "database": "PubMed", "id": "38186023", "url": "https://glygen.org/publication/PubMed/38186023" } ] }, { "annotation": "Long-Read Sequencing Reveals Alternative Splicing-Driven, Shared Immunogenic Neoepitopes Regardless of SF3B1 Status in Uveal Melanoma.", "evidence": [ { "database": "RefSeq", "id": "NP_036565", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036565" }, { "database": "PubMed", "id": "37756564", "url": "https://glygen.org/publication/PubMed/37756564" } ] }, { "annotation": "Prevalence and clinical correlations of SF3B1 variants in lactotroph tumours.", "evidence": [ { "database": "RefSeq", "id": "NP_036565", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036565" }, { "database": "PubMed", "id": "37721395", "url": "https://glygen.org/publication/PubMed/37721395" } ] }, { "annotation": "SF3B1 hotspot mutations confer sensitivity to PARP inhibition by eliciting a defective replication stress response.", "evidence": [ { "database": "RefSeq", "id": "NP_036565", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036565" }, { "database": "PubMed", "id": "37524790", "url": "https://glygen.org/publication/PubMed/37524790" } ] }, { "annotation": "This gene encodes subunit 1 of the splicing factor 3b protein complex. Splicing factor 3b, together with splicing factor 3a and a 12S RNA unit, forms the U2 small nuclear ribonucleoproteins complex (U2 snRNP). The splicing factor 3b/3a complex binds pre-mRNA upstream of the intron's branch site in a sequence independent manner and may anchor the U2 snRNP to the pre-mRNA. Splicing factor 3b is also a component of the minor U12-type spliceosome. The carboxy-terminal two-thirds of subunit 1 have 22 non-identical, tandem HEAT repeats that form rod-like, helical structures. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_036565", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036565" } ] }, { "annotation": "[Clinical and laboratory features of SF3B1-mutated myeloproliferative neoplasms].", "evidence": [ { "database": "RefSeq", "id": "NP_036565", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036565" }, { "database": "PubMed", "id": "37981774", "url": "https://glygen.org/publication/PubMed/37981774" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs763559216", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763559216" }, { "id": "rs763559216", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763559216" }, { "id": "rs763559216", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs763559216" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1272, "end_pos": 1272, "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NSI->NST).", "chr_id": "2", "chr_pos": "197392403", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I1272", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs747533615", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747533615" }, { "id": "rs747533615", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747533615" }, { "id": "rs747533615", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs747533615" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 160, "end_pos": 160, "sequence_org": "H", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (HLT->NLT).", "chr_id": "2", "chr_pos": "197418526", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H160", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1014653152", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1014653152" }, { "id": "rs1014653152", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1014653152" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 187, "end_pos": 187, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NGA->NGT).", "chr_id": "2", "chr_pos": "197416848", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A187", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs749887399", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749887399" }, { "id": "rs749887399", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749887399" }, { "id": "rs749887399", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs749887399" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 332, "end_pos": 332, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->N).", "chr_id": "2", "chr_pos": "197408491", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S332", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O75533", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O75533" }, { "id": "rs890785458", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs890785458" }, { "id": "rs890785458", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs890785458" }, { "id": "rs890785458", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs890785458#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 34, "end_pos": 34, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (DST->NST).", "chr_id": "2", "chr_pos": "197423903", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D34", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "O75533", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O75533" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 368, "end_pos": 368, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (NMA->NMT).", "chr_id": "2", "chr_pos": "197408384", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A368", "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": 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"https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] }, { "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" } ] }, { "disease_id": "DOID:1115", "recommended_name": { "id": "DOID:1115", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1115", "name": "sarcoma", "description": "A cell type cancer that has_material_basis_in abnormally proliferating cells derives from embryonic mesoderm." }, "synonyms": [ { "id": "DOID:1115", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1115", "name": "connective and soft tissue neoplasm", "description": "" }, { "id": "DOID:1115", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1115", "name": "tumor of soft tissue and skeleton", "description": "" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "O75533", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O75533" } ], "glycoeffect": [], "start_pos": 740, "end_pos": 740, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "E", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "2", "chr_pos": "197401989", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G740", "disease": [ { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": 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"description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", 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"MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", 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}, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL 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"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, 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"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", 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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 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"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": "O75533", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75533" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"length": 1304, "header": "sp|O75533-1|SF3B1_HUMAN Isoform 1 of Splicing factor 3B subunit 1 OS=Homo sapiens OX=9606 GN=SF3B1 PE=1 SV=3 CANONICAL=O75533-1" }, "locus": { "chromosome": "2", "start_pos": 197434999, "end_pos": 197392306, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000335508.11", "url": "https://www.ensembl.org/id/ENST00000335508.11" }, { "database": "Ensembl Peptide", "id": "ENSP00000335321.6", "url": "https://www.ensembl.org/id/ENSP00000335321.6" } ] } }, { "isoform_ac": "O75533-2", "url": "", "sequence": { "sequence": "MAKIAKTHEDIEAQIREIQGKKAALDEAQGVGLDSTGYYDQEIYGGSDSRFAGYVTSIAATELEDDDDDYSSSTSLLGQKKPGYHAPVALLNDIPQSTEQYDPFAEHRPPKIADREDEYKKHRRTMIISPERLDPFADGFYSAA", "length": 144, "header": "sp|O75533-2|SF3B1_HUMAN Isoform 2 of Splicing factor 3B subunit 1 OS=Homo sapiens OX=9606 GN=SF3B1 PE=1 SV=3 CANONICAL=O75533-1" }, "locus": { "chromosome": "2", "start_pos": 197434999, "end_pos": 197418935, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000414963.2", "url": "https://www.ensembl.org/id/ENST00000414963.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000402997.2", "url": "https://www.ensembl.org/id/ENSP00000402997.2" } ] } } ], "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": 273, "start_aa": "Thr", "end_pos": 273, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr273", "evidence": [ { "id": "O75533", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O75533" }, { "id": "31373491", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31373491" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 299, "start_aa": "Thr", "end_pos": 299, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr299", "evidence": [ { "id": "O75533", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75533" }, { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" }, { "id": "30444036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30444036" }, { "id": "30397120", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30397120" }, { "id": "32522876", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32522876" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "35083852", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35083852" }, { "id": "30620550", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30620550" }, { "id": "32119511", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32119511" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 332, "start_aa": "Ser", "end_pos": 332, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser332", "evidence": [ { "id": "O75533", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75533" }, { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" }, { "id": "30444036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30444036" }, { "id": "30397120", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30397120" }, { "id": "32522876", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32522876" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "35083852", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35083852" }, { "id": "30620550", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30620550" }, { "id": "32119511", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32119511" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" }, { "id": "O75533", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O75533" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 341, "start_aa": "Thr", "end_pos": 341, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr341", "evidence": [ { "id": "O75533", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O75533" }, { "id": "31373491", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31373491" } ] } ], "phosphorylation": [ { "start_pos": 1136, "end_pos": 1136, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O75533", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75533" }, { "database": "PubMed", "id": "20068230", "url": "https://glygen.org/publication/PubMed/20068230" } ], "site_lbl": "Tyr1136" }, { "start_pos": 125, "end_pos": 125, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "O75533", "url": "https://www.uniprot.org/uniprot/O75533" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O75533", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75533" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr125" }, { "start_pos": 129, "end_pos": 129, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O75533", "url": "https://www.uniprot.org/uniprot/O75533" }, { "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": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" }, { "database": "iPTMnet", "id": "B4DGZ4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/B4DGZ4" }, { "database": "PubMed", "id": "19664994", "url": "https://glygen.org/publication/PubMed/19664994" }, { "database": "iPTMnet", "id": "O75533", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75533" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" }, { "database": "phospho.ELM", "id": "O75533", "url": "http://phospho.elm.eu.org/byAccession/O75533.html" } ], "site_lbl": "Ser129" }, { "start_pos": 142, "end_pos": 142, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "O75533", "url": "https://www.uniprot.org/uniprot/O75533" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "17924679", "url": "https://glygen.org/publication/PubMed/17924679" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O75533", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75533" }, { "database": "PubMed", "id": "18212344", "url": "https://glygen.org/publication/PubMed/18212344" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr142" }, { "start_pos": 190, "end_pos": 190, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O75533", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75533" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser190" }, { 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"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": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" }, { "database": "iPTMnet", "id": "O75533", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75533" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" }, { "database": "PubMed", "id": "19415658", "url": "https://glygen.org/publication/PubMed/19415658" }, { "database": "PubMed", "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995" }, { "database": "phospho.ELM", "id": "O75533", "url": "http://phospho.elm.eu.org/byAccession/O75533.html" }, { "database": 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splicing to nuclear export in metazoans.", "journal": "Nature", "date": "2000", "authors": "Zhou Z, Luo MJ, Straesser K, Katahira J, Hurt E, Reed R", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "11014198", "url": "https://glygen.org/publication/PubMed/11014198" } ] }, { "title": "Functional analysis of the human CDC5L complex and identification of its components by mass spectrometry.", "journal": "The EMBO journal", "date": "2000", "authors": "Ajuh P, Kuster B, Panov K, Zomerdijk JC, Mann M, Lamond AI", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "11101529", "url": "https://glygen.org/publication/PubMed/11101529" } ] }, { "title": "The 100-kda U5 snRNP protein (hPrp28p) contacts the 5' splice site through its ATPase site.", "journal": "RNA (New York, N.Y.)", "date": "2001", "authors": "Ismaili N, Sha M, Gustafson EH, Konarska MM", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "11233976", "url": "https://glygen.org/publication/PubMed/11233976" } ] }, { "title": "Functions of SR proteins in the U12-dependent AT-AC pre-mRNA splicing pathway.", "journal": "RNA (New York, N.Y.)", "date": "2001", "authors": "Hastings ML, Krainer AR", "evidence": [ { "database": "Reactome", "id": "R-HSA-72165", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72165" } ], "reference": [ { "type": "PubMed", "id": "11333026", "url": "https://glygen.org/publication/PubMed/11333026" } ] }, { "title": "Splicing-related catalysis by protein-free snRNAs.", "journal": "Nature", "date": "2001", "authors": "Valadkhan S, Manley JL", "evidence": [ { "database": "Reactome", "id": "R-HSA-72165", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72165" } ], "reference": [ { "type": "PubMed", "id": "11607023", "url": "https://glygen.org/publication/PubMed/11607023" } ] }, { "title": "Purification and characterization of native spliceosomes suitable for three-dimensional structural analysis.", "journal": "RNA", "date": "2002", "authors": "Jurica MS, Licklider LJ, Gygi SR, Grigorieff N, Moore MJ", "evidence": [ { "database": "UniProtKB", "id": "O75533", "url": "https://www.uniprot.org/uniprot/O75533" }, { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "11991638", "url": "https://glygen.org/publication/PubMed/11991638" } ] }, { "title": "Phosphorylation-dependent interaction between the splicing factors SAP155 and NIPP1.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Boudrez A, Beullens M, Waelkens E, Stalmans W, Bollen M", "evidence": [ { 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"evidence": [ { "database": "UniProtKB", "id": "O75533", "url": "https://www.uniprot.org/uniprot/O75533" } ], "reference": [ { "type": "PubMed", "id": "12234937", "url": "https://glygen.org/publication/PubMed/12234937" } ] }, { "title": "Small nuclear ribonucleoprotein remodeling during catalytic activation of the spliceosome.", "journal": "Science (New York, N.Y.)", "date": "2002", "authors": "Makarov EM, Makarova OV, Urlaub H, Gentzel M, Will CL, Wilm M, Luhrmann R", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "12411573", "url": "https://glygen.org/publication/PubMed/12411573" } ] }, { "title": "5' exon interactions within the human spliceosome establish a framework for exon junction complex structure and assembly.", "journal": "Genes & development", "date": "2002", "authors": "Reichert VL, Le Hir H, Jurica MS, Moore MJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "12414731", "url": "https://glygen.org/publication/PubMed/12414731" } ] }, { "title": "Protein composition of human prespliceosomes isolated by a tobramycin affinity-selection method.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2002", "authors": "Hartmuth K, Urlaub H, Vornlocher HP, Will CL, Gentzel M, Wilm M, Luhrmann R", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "12477934", "url": "https://glygen.org/publication/PubMed/12477934" } ] }, { "title": "Molecular architecture of the multiprotein splicing factor SF3b.", "journal": "Science", "date": "2003", "authors": "Golas Monika M, Sander Bjoern, Will Cindy L, L\u00fchrmann Reinhard, Stark Holger", "evidence": [ { "database": "UniProtKB", "id": "O75533", "url": "https://www.uniprot.org/uniprot/O75533" } ], "reference": [ { "type": "PubMed", "id": "12738865", "url": "https://glygen.org/publication/PubMed/12738865" } ] }, { "title": "A simple whole cell lysate system for in vitro splicing reveals a stepwise assembly of the exon-exon junction complex.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Kataoka N, Dreyfuss G", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "14625303", "url": "https://glygen.org/publication/PubMed/14625303" } ] }, { "title": "Prp5 bridges U1 and U2 snRNPs and enables stable U2 snRNP association with intron RNA.", "journal": "The EMBO journal", "date": "2004", "authors": "Xu YZ, Newnham CM, Kameoka S, Huang T, Konarska MM, Query CC", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": 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"database": "iPTMnet", "id": "O75533-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75533-1" } ], "reference": [ { "type": "PubMed", "id": "15302935", "url": "https://glygen.org/publication/PubMed/15302935" } ] }, { "title": "Nuclear actin and myosin I are required for RNA polymerase I transcription.", "journal": "Nature cell biology", "date": "2004", "authors": "Philimonenko VV, Zhao J, Iben S, Dingova H, Kysela K, Kahle M, Zentgraf H, Hofmann WA, de Lanerolle P, Hozak P, Grummt I", "evidence": [ { "database": "Reactome", "id": "R-HSA-5250924", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5250924" } ], "reference": [ { "type": "PubMed", "id": "15558034", "url": "https://glygen.org/publication/PubMed/15558034" } ] }, { "title": "Global phosphoproteome of HT-29 human colon adenocarcinoma cells.", "journal": "Journal of proteome research", "date": "2005", "authors": "Kim JE, Tannenbaum SR, White FM", "evidence": [ { "database": "iPTMnet", "id": "O75533", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75533" } ], "reference": [ { "type": "PubMed", "id": "16083285", "url": "https://glygen.org/publication/PubMed/16083285" } ] }, { "title": "Biochemical analysis of the EJC reveals two new factors and a stable tetrameric protein core.", "journal": "RNA (New York, N.Y.)", "date": "2005", "authors": "Tange TO, Shibuya T, Jurica MS, Moore MJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "16314458", "url": "https://glygen.org/publication/PubMed/16314458" } ] }, { "title": "Crystal structure of a core spliceosomal protein interface.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "2006", "authors": "Schellenberg MJ, Edwards RA, Ritchie DB, Kent OA, Golas MM, Stark H, Luhrmann R, Glover JN, MacMillan AM", "evidence": [ { "database": "UniProtKB", "id": "O75533", "url": "https://www.uniprot.org/uniprot/O75533" } ], "reference": [ { "type": "PubMed", "id": "16432215", "url": "https://glygen.org/publication/PubMed/16432215" } ] }, { "title": "The protein kinase DYRK1A phosphorylates the splicing factor SF3b1/SAP155 at Thr434, a novel in vivo phosphorylation site.", "journal": "BMC biochemistry", "date": "2006", "authors": "de Graaf K, Czajkowska H, Rottmann S, Packman LC, Lilischkis R, Luscher B, Becker W", "evidence": [ { "database": "iPTMnet", "id": "O75533-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75533-1" } ], "reference": [ { "type": "PubMed", "id": "16512921", "url": "https://glygen.org/publication/PubMed/16512921" } ] }, { "title": "The chromatin remodelling complex WSTF-SNF2h interacts with nuclear myosin 1 and has a role in RNA polymerase I transcription.", "journal": "EMBO reports", "date": "2006", "authors": "Percipalle P, Fomproix N, Cavellan E, Voit R, Reimer G, Kruger T, Thyberg J, Scheer U, Grummt I, Farrants AK", "evidence": [ { "database": "Reactome", "id": "R-HSA-5250924", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5250924" } ], "reference": [ { "type": "PubMed", "id": "16514417", "url": "https://glygen.org/publication/PubMed/16514417" } ] }, { "title": "The WSTF-SNF2h chromatin remodeling complex interacts with several nuclear proteins in transcription.", "journal": "J. Biol. Chem.", "date": "2006", "authors": "Cavellan E, Asp P, Percipalle P, Farrants AK", "evidence": [ { "database": "UniProtKB", "id": "O75533", "url": "https://www.uniprot.org/uniprot/O75533" }, { "database": "Reactome", "id": "R-HSA-5250924", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5250924" } ], "reference": [ { "type": "PubMed", "id": "16603771", "url": "https://glygen.org/publication/PubMed/16603771" } ] }, { "title": "Protein composition and electron microscopy structure of affinity-purified human spliceosomal B complexes isolated under physiological conditions.", "journal": "Molecular and cellular biology", "date": "2006", "authors": "Deckert J, Hartmuth K, Boehringer D, Behzadnia N, Will CL, Kastner B, Stark H, Urlaub H, Luhrmann R", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "16809785", "url": "https://glygen.org/publication/PubMed/16809785" } ] }, { "title": "A probability-based approach for high-throughput protein phosphorylation analysis and site localization.", "journal": "Nature biotechnology", "date": "2006", "authors": "Beausoleil SA, Villen J, Gerber SA, Rush J, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "O75533", "url": "https://www.uniprot.org/uniprot/O75533" }, { "database": "iPTMnet", "id": "O75533-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75533-1" } ], "reference": [ { "type": "PubMed", "id": "16964243", "url": "https://glygen.org/publication/PubMed/16964243" } ] }, { "title": "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.", "journal": "Cell", "date": "2006", "authors": "Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M", "evidence": [ { "database": "UniProtKB", "id": "O75533", "url": "https://www.uniprot.org/uniprot/O75533" }, { "database": "iPTMnet", "id": "O75533-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75533-1" } ], "reference": [ { "type": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ] }, { "title": "Protein composition of human mRNPs spliced in vitro and differential requirements for mRNP protein recruitment.", "journal": "RNA (New York, N.Y.)", "date": "2007", "authors": "Merz C, Urlaub H, Will CL, Luhrmann R", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "17095540", "url": "https://glygen.org/publication/PubMed/17095540" } ] }, { "title": "Composition and three-dimensional EM structure of double affinity-purified, human prespliceosomal A complexes.", "journal": "The EMBO journal", "date": "2007", "authors": "Behzadnia N, Golas MM, Hartmuth K, Sander B, Kastner B, Deckert J, Dube P, Will CL, Urlaub H, Stark H, Luhrmann R", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "17332742", "url": "https://glygen.org/publication/PubMed/17332742" } ] }, { "title": "U2AF-homology motif interactions are required for alternative splicing regulation by SPF45.", "journal": "Nat. 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Biol.", "date": "2007", "authors": "Corsini L, Bonnal S, Basquin J, Hothorn M, Scheffzek K, Valcarcel J, Sattler M", "evidence": [ { "database": "UniProtKB", "id": "O75533", "url": "https://www.uniprot.org/uniprot/O75533" } ], "reference": [ { "type": "PubMed", "id": "17589525", "url": "https://glygen.org/publication/PubMed/17589525" } ] }, { "title": "Splicing remodels messenger ribonucleoprotein architecture via eIF4A3-dependent and -independent recruitment of exon junction complex components.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2007", "authors": "Zhang Z, Krainer AR", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "17606899", "url": "https://glygen.org/publication/PubMed/17606899" } ] }, { "title": "Improved titanium dioxide enrichment of phosphopeptides from HeLa cells and high confident phosphopeptide identification by cross-validation of MS/MS and MS/MS/MS spectra.", "journal": "Journal of proteome research", "date": "2007", "authors": "Yu LR, Zhu Z, Chan KC, Issaq HJ, Dimitrov DS, Veenstra TD", "evidence": [ { "database": "UniProtKB", "id": "O75533", "url": "https://www.uniprot.org/uniprot/O75533" }, { "database": "iPTMnet", "id": "O75533-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75533-1" } ], "reference": [ { "type": "PubMed", "id": "17924679", "url": "https://glygen.org/publication/PubMed/17924679" } ] }, { "title": "Protein-free spliceosomal snRNAs catalyze a reaction that resembles the first step of splicing.", "journal": "RNA (New York, N.Y.)", "date": "2007", "authors": "Valadkhan S, Mohammadi A, Wachtel C, Manley JL", "evidence": [ { "database": "Reactome", "id": "R-HSA-72165", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72165" } ], "reference": [ { "type": "PubMed", "id": "17940139", "url": 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"id": "9524131", "url": "https://glygen.org/publication/PubMed/9524131" } ] }, { "title": "The human U5-200kD DEXH-box protein unwinds U4/U6 RNA duplices in vitro.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1998", "authors": "Laggerbauer B, Achsel T, Luhrmann R", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "9539711", "url": "https://glygen.org/publication/PubMed/9539711" } ] }, { "title": "Phosphorylation of spliceosomal protein SAP 155 coupled with splicing catalysis.", "journal": "Genes & development", "date": "1998", "authors": "Wang C, Chua K, Seghezzi W, Lees E, Gozani O, Reed R", "evidence": [ { "database": "UniProtKB", "id": "O75533", "url": "https://www.uniprot.org/uniprot/O75533" } ], "reference": [ { "type": "PubMed", "id": "9585501", "url": "https://glygen.org/publication/PubMed/9585501" } ] }, { "title": "A potential role for U2AF-SAP 155 interactions in recruiting U2 snRNP to the branch site.", "journal": "Molecular and cellular biology", "date": "1998", "authors": "Gozani O, Potashkin J, Reed R", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "9671485", "url": "https://glygen.org/publication/PubMed/9671485" } ] }, { "title": "The mammalian homologue of Prp16p is overexpressed in a cell line tolerant to Leflunomide, a new immunoregulatory drug effective against rheumatoid arthritis.", "journal": "RNA (New York, N.Y.)", "date": "1998", "authors": "Ortlepp D, Laggerbauer B, Mullner S, Achsel T, Kirschbaum B, Luhrmann R", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "9701291", "url": "https://glygen.org/publication/PubMed/9701291" } ] }, { "title": "Mass spectrometry and EST-database searching allows characterization of the multi-protein spliceosome complex.", "journal": "Nature genetics", "date": "1998", "authors": "Neubauer G, King A, Rappsilber J, Calvio C, Watson M, Ajuh P, Sleeman J, Lamond A, Mann M", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "9731529", "url": "https://glygen.org/publication/PubMed/9731529" } ] } ], "pathway": [ { "id": "hsa:23451", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:23451", "resource": "KEGG Pathway" }, { "id": "R-HSA-5250924", "name": "B-WICH complex positively regulates rRNA expression", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5250924", "resource": "Reactome", "description": "B-WICH complex positively regulates rRNA expression" }, { "id": "R-HSA-72163", "name": "mRNA Splicing - Major Pathway", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163", "resource": "Reactome", "description": "mRNA Splicing - Major Pathway" }, { "id": "R-HSA-72165", "name": "mRNA Splicing - Minor Pathway", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72165", "resource": "Reactome", "description": "mRNA Splicing - Minor Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "G3V7T6-1", "protein_name": "Splicing factor 3b, subunit 1", "gene_name": "Sf3b1", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MAKIAKTHEDIEAQIREIQGKKAALDEAQGVGLDSTGYYDQEIYGGSDSRFAGYVTSIAATELEDDDDDYSSSTSLLGQKKPGYHAPVALLNDIPQSTEQYDPFAEHRPPKIADREDEYKKHRRTMIISPERLDPFADGGKTPDPKMNARTYMDVMREQHLTKEEREIRQQLAEKAKAGELKVVNGAAASQPPSKRKRRWDQTADQTPGATPKKLSSWDQAETPGHTPSLRWDETPGRAKGSETPGATPGSKIWDPTPSHTPAGAATPGRGDTPGHATPGHGGATSSARKNRWDETPKTERDTPGHGSGWAETPRTDRGGDSIGETPTPGASKRKSRWDETPASQMGGSTPVLTPGKTPIGTPAMNMATPTPGHIMSMTPEQLQAWRWEREIDERNRPLSDEELDAMFPEGYKVLPPPAGYVPIRTPARKLTATPTPLGGMTGFHMQTEDRTMKSVNDQPSGNLPFLKPDDIQYFDKLLVDVDESTLSPEEQKERKIMKLLLKIKNGTPPMRKAALRQITDKAREFGAGPLFNQILPLLMSPTLEDQERHLLVKVIDRILYKLDDLVRPYVHKILVVIEPLLIDEDYYARVEGREIISNLAKAAGLATMISTMRPDIDNMDEYVRNTTARAFAVVASALGIPSLLPFLKAVCKSKKSWQARHTGIKIVQQIAILMGCAILPHLRSLVEIIEHGLVDEQQKVRTISALAIAALAEAATPYGIESFDSVLKPLWKGIRQHRGKGLAAFLKAIGYLIPLMDAEYANYYTREVMLILIREFQSPDEEMKKIVLKVVKQCCGTDGVEANYIKTEILPPFFKHFWQHRMALDRRNYRQLVDTTVELANKVGAAEIISRIVDDLKDEAEQYRKMVMETIEKIMGNLGAADIDHKLEEQLIDGILYAFQEQTTEDSVMLNGFGTVVNALGKRVKPYLPQICGTVLWRLNNKSAKVRQQAADLISRTAVVMKTCQEEKLMGHLGVVLYEYLGEEYPEVLGSILGALKAIVNVIGMHKMTPPIKDLLPRLTPILKNRHEKVQENCIDLVGRIADRGAEYVSAREWMRICFELLELLKAHKKAIRRATVNTFGYIAKAIGPHDVLATLLNNLKVQERQNRVCTTVAIAIVAETCSPFTVLPALMNEYRVPELNVQNGVLKSLSFLFEYIGEMGKDYIYAVTPLLEDALMDRDLVHRQTASAVVQHMSLGVYGFGCEDSLNHLLNYVWPNVFETSPHVIQAVMGALEGLRVAIGPCRMLQYCLQGLFHPARKVRDVYWKIYNSIYIGSQDALIAHYPRIYNDDKNTYIRYELDYIL", "length": 1304 }, "evidence": [ { "id": "45918883", "url": "http://www.informatics.jax.org/homology/45918883", "database": "MGI" }, { "id": "O75533", "url": "https://omabrowser.org/oma/group/O75533/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "P49955-1", "protein_name": "U2 snRNP component HSH155", "gene_name": "HSH155", "tax_id": 559292, "organism": "Saccharomyces cerevisiae S288C", "sequence": { "sequence": "MSHPIQFVNANNSDKSHQLGGQYSIPQDLRENLQKEAARIGENEKDVLQEKMETRTVQNREDSYHKRRFDMKFEPDSDTQTVTSSENTQDAVVPRKRKSRWDVKGYEPPDESSTAVKENSDSALVNVEGIHDLMFFKPSDHKYFADVISKKPIDELNKDEKKERTLSMLLLKIKNGNTASRRTSMRILTDKAVTFGPEMIFNRLLPILLDRSLEDQERHLMIKTIDRVLYQLGDLTKPYVHKILVVAAPLLIDEDPMVRSTGQEIITNLSTVAGLKTILTVMRPDIENEDEYVRNVTSRAAAVVAKALGVNQLLPFINAACHSRKSWKARHTGIKIVQQIGILLGIGVLNHLTGLMSCIKDCLMDDHVPVRIVTAHTLSTLAENSYPYGIEVFNVVLEPLWKGIRSHRGKVLSSFLKAVGSMIPLMDPEYAGYYTTEAMRIIRREFDSPDDEMKKTILLVLQKCSAVESITPKFLREEIAPEFFQKFWVRRVALDRPLNKVVTYTTVTLAKKLGCSYTIDKLLTPLRDEAEPFRTMAVHAVTRTVNLLGTADLDERLETRLIDALLIAFQEQTNSDSIIFKGFGAVTVSLDIRMKPFLAPIVSTILNHLKHKTPLVRQHAADLCAILIPVIKNCHEFEMLNKLNIILYESLGEVYPEVLGSIINAMYCITSVMDLDKLQPPINQILPTLTPILRNKHRKVEVNTIKFVGLIGKLAPTYAPPKEWMRICFELLELLKSTNKEIRRSANATFGFIAEAIGPHDVLVALLNNLKVQERQLRVCTAVAIGIVAKVCGPYNVLPVIMNEYTTPETNVQNGVLKAMSFMFEYIGNMSKDYIYFITPLLEDALTDRDLVHRQTASNVITHLALNCSGTGHEDAFIHLMNLLIPNIFETSPHAIMRILEGLEALSQALGPGLFMNYIWAGLFHPAKNVRKAFWRVYNNMYVMYQDAMVPFYPVTPDNNEEYIEELDLVL", "length": 971 }, "evidence": [ { "id": "O75533", "url": "https://omabrowser.org/oma/group/O75533/", "database": "OMA" } ], "common_name": "Yeast" }, { "uniprot_canonical_ac": "Q99NB9-1", "protein_name": "Splicing factor 3B subunit 1", "gene_name": "Sf3b1", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MAKIAKTHEDIEAQIREIQGKKAALDEAQGVGLDSTGYYDQEIYGGSDSRFAGYVTSIAATELEDDDDDYSSSTSLLGQKKPGYHAPVALLNDIPQSTEQYDPFAEHRPPKIADREDEYKKHRRTMIISPERLDPFADGGKTPDPKMNARTYMDVMREQHLTKEEREIRQQLAEKAKAGELKVVNGAAASQPPSKRKRRWDQTADQTPGATPKKLSSWDQAETPGHTPSLRWDETPGRAKGSETPGATPGSKIWDPTPSHTPAGAATPGRGDTPGHATPGHGGATSSARKNRWDETPKTERDTPGHGSGWAETPRTDRGGDSIGETPTPGASKRKSRWDETPASQMGGSTPVLTPGKTPIGTPAMNMATPTPGHIMSMTPEQLQAWRWEREIDERNRPLSDEELDAMFPEGYKVLPPPAGYVPIRTPARKLTATPTPLGGMTGFHMQTEDRTMKSVNDQPSGNLPFLKPDDIQYFDKLLVDVDESTLSPEEQKERKIMKLLLKIKNGTPPMRKAALRQITDKAREFGAGPLFNQILPLLMSPTLEDQERHLLVKVIDRILYKLDDLVRPYVHKILVVIEPLLIDEDYYARVEGREIISNLAKAAGLATMISTMRPDIDNMDEYVRNTTARAFAVVASALGIPSLLPFLKAVCKSKKSWQARHTGIKIVQQIAILMGCAILPHLRSLVEIIEHGLVDEQQKVRTISALAIAALAEAATPYGIESFDSVLKPLWKGIRQHRGKGLAAFLKAIGYLIPLMDAEYANYYTREVMLILIREFQSPDEEMKKIVLKVVKQCCGTDGVEANYIKTEILPPFFKHFWQHRMALDRRNYRQLVDTTVELANKVGAAEIISRIVDDLKDEAEQYRKMVMETIEKIMGNLGAADIDHKLEEQLIDGILYAFQEQTTEDSVMLNGFGTVVNALGKRVKPYLPQICGTVLWRLNNKSAKVRQQAADLISRTAVVMKTCQEEKLMGHLGVVLYEYLGEEYPEVLGSILGALKAIVNVIGMHKMTPPIKDLLPRLTPILKNRHEKVQENCIDLVGRIADRGAEYVSAREWMRICFELLELLKAHKKAIRRATVNTFGYIAKAIGPHDVLATLLNNLKVQERQNRVCTTVAIAIVAETCSPFTVLPALMNEYRVPELNVQNGVLKSLSFLFEYIGEMGKDYIYAVTPLLEDALMDRDLVHRQTASAVVQHMSLGVYGFGCEDSLNHLLNYVWPNVFETSPHVIQAVMGALEGLRVAIGPCRMLQYCLQGLFHPARKVRDVYWKIYNSIYIGSQDALIAHYPRIYNDDKNTYIRYDLDYIL", "length": 1304 }, "evidence": [ { "id": "45918883", "url": "http://www.informatics.jax.org/homology/45918883", "database": "MGI" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "Q9VPR5-1", "protein_name": "Splicing factor 3b subunit 1, isoform B", "gene_name": "Sf3b1", "tax_id": 7227, "organism": "Drosophila melanogaster", "sequence": { "sequence": "MENIPRTHEDIEAQISVIQEKKTELAKTTAAAAGVGLLDSGGFFDSDLYDDDAAKGKGRYEGYNTSIAANDAEEVDEDEDDGFPVPQKRTTYTAPASVLKDVTQGKEDVDPMADRRRPTIADREDEYRQKRRHIIISPERADPFADGGKTPDVGSRTYTDIMREQMLKGEESELRRRILEKTKEGTLVKTVTSSSTSNGDLPAPKDGGRKRGRWDQTVSDSFIPAKMATPSSAATPTWEDKTPGDHRWDETPGHKGSETPGATPGLGTRIWDATPAHAVTPGHETPGHEKSARRNRWDETPKTERETPGHSGWAETPKPDRTGSGGGAESISIESTPGASKRRSRWDETPSNATPAITPTNASAMTPNMTPSMTPHVTPGHATPMLTPGGSTPIGVKAMAMATPSAGALAAMTPEQLQAYRWEKEIDERNRPYTDEELDQIFPPGYKILPPPAGYVPLRTPGRKLMATPTPIAGTPAGFFIQVEDKNAKFMDNQPKGQNLPFMKPEDAQYFDKLLVDVNEDSLSPEELKERKIMKLLLTIKNGSPPMRKSALRQITDKAREFGAGPLFNQILPLLMSPTLEDQERHLLVKVIDRVLYKLDDLVRPYVHKILVVIEPLLIDEDHYARIEGREIISNLAKAAGLATMISTMRPDIDNIDEYVRNTTARAFAVVASALGIPSLLPFLKAVCKSKKSWQARHTGIKIVQQIAILMGCAILPHLKALVEIIEHGLVDEQQKVRTITALAIAALAEAATPYGIESFDSVLKPLWKGIRTHRGKGLAAFLKAIGYLIPLMDAEYANYYTREVMLILIREFQSPDEEMKKIVLKVVKQCCATDGVEPQYIKEEILPHFFKFFWNHRMALDRRNYRQLVDTTVEIANKVGASEIINRVVDDLKDENEQYRKMVMETVEKIMGNLGAADIDSRLEEQLIDGILYAFQEQTTEDVVMLNGFGTIVNQLGKRVKPYLPQICGTILWRLNNKSAKVRQQAADLISRIAVVMKTCQEEKLMGHLGVVLYEYLGEEYPEVLGSILGALKAIVNVIGMTKMTPPIKDLLPRLTPILKNRHEKVQENCIDLVGRIADRGPEYVSAREWMRICFELLELLKAHKKAIRRATVNTFGYIAKAIGPHDVLATLLNNLKVQERQNRVCTTVAIAIVAESCRPFTVLPALMNEYRVPELNVQNGVLKSLSFLFEYIGEMGKDYIYAVCPLLEDALMDRDLVHRQTACSAIKHMSLGVYGFGCEDALTHLLNYVWPNIFETSPHLVQAFMDSVDGLRVSLGPIKILQYTLQGLFHPARKVRDVYWKIYNSLYIGGQDALIAGYPRITNDPKNQYERYELDYTL", "length": 1340 }, "evidence": [ { "id": "O75533", "url": "https://omabrowser.org/oma/group/O75533/", "database": "OMA" } ], "common_name": "Fruit fly" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 3, "go_terms": [ { "name": "mRNA binding", "id": "GO:0003729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003729", "evidence": [ { "database": "UniProtKB", "id": "O75533", "url": "https://www.uniprot.org/uniprot/O75533" } ], "pmid": "" }, { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "O75533", "url": "https://www.uniprot.org/uniprot/O75533" } ], "pmid": "" }, { "name": "splicing factor binding", "id": "GO:1990935", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990935", "evidence": [ { "database": "UniProtKB", "id": "O75533", "url": "https://www.uniprot.org/uniprot/O75533" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 13, "go_terms": [ { "name": "spliceosomal complex", "id": "GO:0005681", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005681", "evidence": [ { "database": "UniProtKB", "id": "O75533", "url": "https://www.uniprot.org/uniprot/O75533" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "O75533", "url": "https://www.uniprot.org/uniprot/O75533" } ], "pmid": "" }, { "name": "nuclear speck", "id": "GO:0016607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016607", "evidence": [ { "database": "UniProtKB", "id": "O75533", "url": "https://www.uniprot.org/uniprot/O75533" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "O75533", "url": "https://www.uniprot.org/uniprot/O75533" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "O75533", "url": "https://www.uniprot.org/uniprot/O75533" } ], "pmid": "" }, { "name": "catalytic step 2 spliceosome", "id": "GO:0071013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071013", "evidence": [ { "database": "UniProtKB", "id": "O75533", "url": "https://www.uniprot.org/uniprot/O75533" } ], "pmid": "" }, { "name": "U2 snRNP", "id": "GO:0005686", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005686", "evidence": [ { "database": "UniProtKB", "id": "O75533", "url": "https://www.uniprot.org/uniprot/O75533" } ], "pmid": "" }, { "name": "U11/U12 snRNP", "id": "GO:0034693", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034693", "evidence": [ { "database": "UniProtKB", "id": "O75533", "url": "https://www.uniprot.org/uniprot/O75533" } ], "pmid": "" }, { "name": "U2-type prespliceosome", "id": "GO:0071004", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071004", "evidence": [ { "database": "UniProtKB", "id": "O75533", "url": "https://www.uniprot.org/uniprot/O75533" } ], "pmid": "" }, { "name": "U12-type spliceosomal complex", "id": "GO:0005689", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005689", "evidence": [ { "database": "UniProtKB", "id": "O75533", "url": "https://www.uniprot.org/uniprot/O75533" } ], "pmid": "" }, { "name": "U2-type spliceosomal complex", "id": "GO:0005684", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005684", "evidence": [ { "database": "UniProtKB", "id": "O75533", "url": "https://www.uniprot.org/uniprot/O75533" } ], "pmid": "" }, { "name": "U2-type precatalytic spliceosome", "id": "GO:0071005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071005", "evidence": [ { "database": "UniProtKB", "id": "O75533", "url": "https://www.uniprot.org/uniprot/O75533" } ], "pmid": "" }, { "name": "B-WICH complex", "id": "GO:0110016", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0110016", "evidence": [ { "database": "UniProtKB", "id": "O75533", "url": "https://www.uniprot.org/uniprot/O75533" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 10, "go_terms": [ { "name": "spliceosomal complex assembly", "id": "GO:0000245", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000245", "evidence": [ { "database": "UniProtKB", "id": "O75533", "url": "https://www.uniprot.org/uniprot/O75533" } ], "pmid": "" }, { "name": "RNA splicing, via transesterification reactions", "id": "GO:0000375", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000375", "evidence": [ { "database": "UniProtKB", "id": "O75533", "url": "https://www.uniprot.org/uniprot/O75533" } ], "pmid": "" }, { "name": "chromatin remodeling", "id": "GO:0006338", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006338", "evidence": [ { "database": "UniProtKB", "id": "O75533", "url": "https://www.uniprot.org/uniprot/O75533" } ], "pmid": "" }, { "name": "positive regulation of transcription by RNA polymerase II", "id": "GO:0045944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045944", "evidence": [ { "database": "UniProtKB", "id": "O75533", "url": "https://www.uniprot.org/uniprot/O75533" } ], "pmid": "" }, { "name": "RNA splicing", "id": "GO:0008380", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008380", "evidence": [ { "database": "UniProtKB", "id": "O75533", "url": "https://www.uniprot.org/uniprot/O75533" } ], "pmid": "" }, { "name": "positive regulation of transcription by RNA polymerase III", "id": "GO:0045945", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045945", "evidence": [ { "database": "UniProtKB", "id": "O75533", "url": "https://www.uniprot.org/uniprot/O75533" } ], "pmid": "" }, { "name": "mRNA splicing, via spliceosome", "id": "GO:0000398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000398", "evidence": [ { "database": "UniProtKB", "id": "O75533", "url": "https://www.uniprot.org/uniprot/O75533" } ], "pmid": "" }, { "name": "positive regulation of histone acetylation", "id": "GO:0035066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035066", "evidence": [ { "database": "UniProtKB", "id": "O75533", "url": "https://www.uniprot.org/uniprot/O75533" } ], "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": "O75533", "url": "https://www.uniprot.org/uniprot/O75533" } ], "pmid": "" }, { "name": "U2-type prespliceosome assembly", "id": "GO:1903241", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903241", "evidence": [ { "database": "UniProtKB", "id": "O75533", "url": "https://www.uniprot.org/uniprot/O75533" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 506, "end_pos": 508, "annotation": "n_glycosylation_sequon" }, { "start_pos": 626, "end_pos": 628, "annotation": "n_glycosylation_sequon" }, { "start_pos": 942, "end_pos": 944, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "Phosphorylated. Phosphorylation occurs concomitantly with the splicing catalytic steps. Phosphorylation on Thr-244, Thr-248 and Thr-313 by cyclin-dependent kinases promotes interaction with PPP1R8 during mitosis.", "evidence": [ { "database": "UniProtKB", "id": "O75533", "url": "https://www.uniprot.org/uniprot/O75533" }, { "database": "PubMed", "id": "9585501", "url": "https://glygen.org/publication/PubMed/9585501" }, { "database": "PubMed", "id": "12105215", "url": "https://glygen.org/publication/PubMed/12105215" } ] } ], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [ 273, 299, 332, 341 ], "snv_sites": [ 34, 160, 187, 332, 368, 377, 465, 483, 625, 700, 740, 862, 1272 ], "glycation_sites": [], "phosphorylation_sites": [ 125, 129, 142, 190, 194, 203, 207, 211, 216, 217, 223, 227, 229, 235, 244, 248, 251, 257, 259, 261, 267, 273, 278, 287, 296, 299, 303, 308, 313, 316, 322, 326, 328, 332, 341, 344, 349, 350, 354, 358, 400, 426, 432, 434, 436, 442, 485, 488, 608, 851, 1136 ], "sequon_annotation_sites": [ { "start_pos": 506, "end_pos": 508 }, { "start_pos": 626, "end_pos": 628 }, { "start_pos": 942, "end_pos": 944 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 4 }, { "field": "total_sites", "count": 4 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 4 } ], "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": 4 }, { "field": "total_sites", "count": 4 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 4 } ], "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": 56 }, { "field": "total_sites", "count": 51 } ], "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": 13 }, { "field": "total_sites", "count": 13 } ], "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": 8 }, { "field": "total_sites", "count": 8 } ], "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": 164 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }