{ "uniprot_canonical_ac": "O43290-1", "uniprot_ac": "O43290", "uniprot_id": "SNUT1_HUMAN", "mass": { "chemical_mass": 90255.0, "monoisotopic_mass": 90255.0 }, "refseq": { "ac": "NP_005137", "name": "U4/U6.U5 tri-snRNP-associated protein 1", "summary": "This gene encodes two proteins, the SART1(800) protein expressed in the nucleus of the majority of proliferating cells, and the SART1(259) protein expressed in the cytosol of epithelial cancers. The SART1(259) protein is translated by the mechanism of -1 frameshifting during posttranscriptional regulation; its full-length sequence is not published yet. The two encoded proteins are thought to be involved in the regulation of proliferation. Both proteins have tumor-rejection antigens. The SART1(259) protein possesses tumor epitopes capable of inducing HLA-A2402-restricted cytotoxic T lymphocytes in cancer patients. This SART1(259) antigen may be useful in specific immunotherapy for cancer patients and may serve as a paradigmatic tool for the diagnosis and treatment of patients with atopy. The SART1(259) protein is found to be essential for the recruitment of the tri-snRNP to the pre-spliceosome in the spliceosome assembly pathway. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005137" }, "gene_names": [ { "name": "SART1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O43290", "id": "O43290" }, { "name": "Ara1; HAF; HOMS1; SART1259; SNRNP110; Snu66", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005137", "id": "NP_005137" }, { "name": "SART1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005137", "id": "NP_005137" } ], "protein_names": [ { "name": "U4/U6.U5 tri-snRNP-associated protein 1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O43290" }, { "name": "SART-1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43290" }, { "name": "SNU66 homolog", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43290" }, { "name": "Squamous cell carcinoma antigen recognized by T-cells 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43290" }, { "name": "U4/U6.U5 tri-snRNP-associated 110 kDa protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43290" }, { "name": "U4/U6.U5 tri-snRNP-associated protein 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005137", "id": "NP_005137" }, { "name": "hSART-1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43290" }, { "name": "hSnu66", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43290" }, { "name": "squamous cell carcinoma antigen recognised by T cells; small nuclear ribonucleoprotein 110kDa (U4/U6.U5); U4/U6.U5 tri-snRNP-associated 110 kDa protein; IgE autoantigen; SART1(259) protein; SART1(800) protein; squamous cell carcinoma antigen recognized by T-cells 1; hypoxia associated factor; SART-1; hSnu66; hSART-1; SNU66 homolog; SART1, U4/U6.U5 tri-snRNP-associated protein 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005137", "id": "NP_005137" } ], "function": [ { "annotation": "Patients with clear cell renal carcinoma with high HAF transcript or protein levels showed significantly decreased overall survival compared with those with low HAF. Functional study shows that HAF promotes neurofibromin ubiquitination and degradation independently of oxygen and pVHL, resulting in Ras-ERK pathway activation.", "evidence": [ { "database": "RefSeq", "id": "NP_005137", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005137" }, { "database": "PubMed", "id": "30705246", "url": "https://glygen.org/publication/PubMed/30705246" } ] }, { "annotation": "Plays a role in mRNA splicing as a component of the U4/U6-U5 tri-snRNP, one of the building blocks of the spliceosome. May also bind to DNA.", "evidence": [ { "database": "UniProtKB", "id": "O43290", "url": "https://www.uniprot.org/uniprot/O43290#function" }, { "database": "PubMed", "id": "11350945", "url": "https://glygen.org/publication/PubMed/11350945" }, { "database": "PubMed", "id": "25092792", "url": "https://glygen.org/publication/PubMed/25092792" } ] }, { "annotation": "Suppressing Sart1 to modulate macrophage polarization by siRNA-loaded liposomes: a promising therapeutic strategy for pulmonary fibrosis. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_005137", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005137" }, { "database": "PubMed", "id": "33391530", "url": "https://glygen.org/publication/PubMed/33391530" } ] }, { "annotation": "This gene encodes two proteins, the SART1(800) protein expressed in the nucleus of the majority of proliferating cells, and the SART1(259) protein expressed in the cytosol of epithelial cancers. The SART1(259) protein is translated by the mechanism of -1 frameshifting during posttranscriptional regulation; its full-length sequence is not published yet. The two encoded proteins are thought to be involved in the regulation of proliferation. Both proteins have tumor-rejection antigens. The SART1(259) protein possesses tumor epitopes capable of inducing HLA-A2402-restricted cytotoxic T lymphocytes in cancer patients. This SART1(259) antigen may be useful in specific immunotherapy for cancer patients and may serve as a paradigmatic tool for the diagnosis and treatment of patients with atopy. The SART1(259) protein is found to be essential for the recruitment of the tri-snRNP to the pre-spliceosome in the spliceosome assembly pathway. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_005137", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005137" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs766484641", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766484641" }, { "id": "rs766484641", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766484641" }, { "id": "rs766484641", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs766484641#frequency_tab" }, { "id": "rs766484641", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs766484641" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 428, "end_pos": 428, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DQT->NQT).", "chr_id": "11", "chr_pos": "65967352", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D428", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O43290", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O43290" } ], "glycoeffect": [], "start_pos": 467, "end_pos": 467, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "11", "chr_pos": "65967557", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R467", "disease": [ { "disease_id": "DOID:2394", "recommended_name": { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary." }, "synonyms": [ { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "malignant Ovarian tumor", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "malignant tumour of ovary", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovarian neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovary neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "primary ovarian cancer", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "tumor of the Ovary", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "OVCAS1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas." }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer, somatic", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary cancer", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer, epithelial", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "primary ovarian cancer", "description": "" }, { "id": "MIM:167000", "resource": "MIM", "url": "https://www.omim.org/entry/167000", "name": "Ovarian cancer", "description": "Ovarian cancer" } ] }, { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "O43290", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O43290" }, { "id": "rs756007683", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756007683" }, { "id": "rs756007683", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756007683" }, { "id": "rs756007683", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756007683" }, { "id": "rs756007683", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs756007683#frequency_tab" }, { "id": "rs756007683", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs756007683" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 556, "end_pos": 556, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "M", "comment": "Somatic mutation passed 1 out of 6 filters: o-glyco-site-loss (T->M).", "chr_id": "11", "chr_pos": "65976489", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "T556", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs1259221984", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1259221984" }, { "id": "rs1259221984", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1259221984" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 758, "end_pos": 758, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KMS->NMS).", "chr_id": "11", "chr_pos": "65978804", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K758", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs780468069", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780468069" }, { "id": "rs780468069", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780468069" }, { "id": "rs780468069", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs780468069" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 760, "end_pos": 760, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SSS->NSS).", "chr_id": "11", "chr_pos": "65978809", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S760", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs748182321", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748182321" }, { "id": "rs748182321", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748182321" }, { "id": "rs748182321", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748182321" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 76, "end_pos": 76, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SST->NST).", "chr_id": "11", "chr_pos": "65962007", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S76", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "85.73", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000175467", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000175467" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "82.83", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000175467", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000175467" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "85.16", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000175467", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000175467" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "84.54", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000175467", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000175467" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "95.06", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000175467", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000175467" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "86.7", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000175467", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000175467" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "79.98", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000175467", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000175467" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "87.79", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000175467", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000175467" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "94.4", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000175467", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000175467" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "73.17", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000175467", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000175467" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "85.71", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000175467", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000175467" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "95.64", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000175467", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000175467" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "93.42", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000175467", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000175467" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O43290", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43290" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "No", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O43290", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43290" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O43290", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43290" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O43290", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43290" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "O43290", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43290" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "O43290", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43290" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O43290", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43290" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "O43290", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43290" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "O43290", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43290" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "O43290", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43290" } ], "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "O43290", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43290" } ], "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Aerodigestive tract cancer, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Escc, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "gastric cardia adenocarcinoma, susceptibility to", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Colorectal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:9256", "evidence": [ { "database": "BioXpress", "id": "O43290", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43290" } ], "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O43290", "url": "https://www.uniprot.org/uniprot/O43290" } ], "common_name": "Human" } ], "gene": [ { "name": "SART1", "url": "https://www.uniprot.org/uniprot/O43290", "locus": { "chromosome": "11", "start_pos": 65980137, "end_pos": 65961728, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000175467", "url": "https://www.ensembl.org/id/ENSG00000175467" } ] } } ], "crossref": [ { "id": "ENSG00000175467", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000175467", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "O43290", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O43290", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "SART1", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=SART1", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "9092", "url": "https://www.ncbi.nlm.nih.gov/gene/9092", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "10538", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=10538", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "O43290", "url": "https://www.ebi.ac.uk/intact/interactors/id:O43290*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR005011", "url": "https://www.ebi.ac.uk/interpro/entry/IPR005011", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR045347", "url": "https://www.ebi.ac.uk/interpro/entry/IPR045347", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:9092", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:9092", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "605941", "url": "http://www.omim.org/entry/605941", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O43290", "url": "https://www.nextprot.org/entry/NX_O43290", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "O43290", "url": "https://oglcnac.org/atlas/detail/O43290", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "O43290", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43290", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "DTQMQKV", "url": "https://omabrowser.org/oma/group/DTQMQKV/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "24344at2759", "url": "http://www.orthodb.org/?query=24344at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR14152", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR14152", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR14152:SF5", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR14152:SF5", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "4PYU", "url": "https://www.rcsb.org/structure/4PYU", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5O9Z", "url": "https://www.rcsb.org/structure/5O9Z", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6AHD", "url": "https://www.rcsb.org/structure/6AHD", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6QW6", "url": "https://www.rcsb.org/structure/6QW6", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6QX9", "url": "https://www.rcsb.org/structure/6QX9", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF03343", "url": "http://pfam.xfam.org/family/PF03343", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF19252", "url": "http://pfam.xfam.org/family/PF19252", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O43290", "url": "https://pharos.nih.gov/targets/O43290", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O43290", "url": "http://purl.obolibrary.org/obo/PR_O43290", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_005137", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005137", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "E9PQI8", "url": "https://www.uniprot.org/uniprot/E9PQI8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PQI8-1", "url": "https://www.uniprot.org/uniprot/E9PQI8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43290", "url": "https://www.uniprot.org/uniprot/O43290", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43290-1", "url": "https://www.uniprot.org/uniprot/O43290-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MGSSKKHRGEKEAAGTTAAAGTGGATEQPPRHREHKKHKHRSGGSGGSGGERRKRSRERGGERGSGRRGAEAEARSSTHGRERSQAEPSERRVKREKRDDGYEAAASSKTSSGDASSLSIEETNKLRAKLGLKPLEVNAIKKEAGTKEEPVTADVINPMALRQREELREKLAAAKEKRLLNQKLGKIKTLGEDDPWLDDTAAWIERSRQLQKEKDLAEKRAKLLEEMDQEFGVSTLVEEEFGQRRQDLYSARDLQGLTVEHAIDSFREGETMILTLKDKGVLQEEEDVLVNVNLVDKERAEKNVELRKKKPDYLPYAEDESVDDLAQQKPRSILSKYDEELEGERPHSFRLEQGGTADGLRERELEEIRAKLRLQAQSLSTVGPRLASEYLTPEEMVTFKKTKRRVKKIRKKEKEVVVRADDLLPLGDQTQDGDFGSRLRGRGRRRVSEVEEEKEPVPQPLPSDDTRVENMDISDEEEGGAPPPGSPQVLEEDEAELELQKQLEKGRRLRQLQQLQQLRDSGEKVVEIVKKLESRQRGWEEDEDPERKGAIVFNATSEFCRTLGEIPTYGLAGNREEQEELMDFERDEERSANGGSESDGEENIGWSTVNLDEEKQQQDFSASSTTILDEEPIVNRGLAAALLLCQNKGLLETTVQKVARVKAPNKSLPSAVYCIEDKMAIDDKYSRREEYRGFTQDFKEKDGYKPDVKIEYVDETGRKLTPKEAFRQLSHRFHGKGSGKMKTERRMKKLDEEALLKKMSSSDTPLGTVALLQEKQKAQKTPYIVLSGSGKSMNANTITK", "length": 800, "header": "sp|O43290-1|SNUT1_HUMAN Isoform 1 of U4/U6.U5 tri-snRNP-associated protein 1 OS=Homo sapiens OX=9606 GN=SART1 PE=1 SV=1 CANONICAL=O43290-1" }, "isoforms": [ { "isoform_ac": "E9PQI8-1", "url": "", "sequence": { "sequence": "MGSSKKHRGEKEAAGTTAAAGTGGATEQPPRHREHKKHKHRSGGSGGSGGERRKRSRERGGERGSGRRGAEAEARSSTHGRERSQAEPSERRVKREKRDDGYEAAASSKTSSGDASSLSIEETNKLRAKLGLKPLEVNAIKKAMGGHSLTSGPPFQRRAPRRSP", "length": 164, "header": "tr|E9PQI8-1|SNUT1_HUMAN Computationally mapped isoform of U4/U6.U5 tri-snRNP-associated protein 1 OS=Homo sapiens OX=9606 GN=SART1 PE=1 SV=1 CANONICAL=O43290-1" }, "locus": { "chromosome": "11", "start_pos": 65965115, "end_pos": 65961781, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000530251.1", "url": "https://www.ensembl.org/id/ENST00000530251.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000436218.1", "url": "https://www.ensembl.org/id/ENSP00000436218.1" } ] } }, { "isoform_ac": "O43290-1", "url": "", "sequence": { "sequence": "MGSSKKHRGEKEAAGTTAAAGTGGATEQPPRHREHKKHKHRSGGSGGSGGERRKRSRERGGERGSGRRGAEAEARSSTHGRERSQAEPSERRVKREKRDDGYEAAASSKTSSGDASSLSIEETNKLRAKLGLKPLEVNAIKKEAGTKEEPVTADVINPMALRQREELREKLAAAKEKRLLNQKLGKIKTLGEDDPWLDDTAAWIERSRQLQKEKDLAEKRAKLLEEMDQEFGVSTLVEEEFGQRRQDLYSARDLQGLTVEHAIDSFREGETMILTLKDKGVLQEEEDVLVNVNLVDKERAEKNVELRKKKPDYLPYAEDESVDDLAQQKPRSILSKYDEELEGERPHSFRLEQGGTADGLRERELEEIRAKLRLQAQSLSTVGPRLASEYLTPEEMVTFKKTKRRVKKIRKKEKEVVVRADDLLPLGDQTQDGDFGSRLRGRGRRRVSEVEEEKEPVPQPLPSDDTRVENMDISDEEEGGAPPPGSPQVLEEDEAELELQKQLEKGRRLRQLQQLQQLRDSGEKVVEIVKKLESRQRGWEEDEDPERKGAIVFNATSEFCRTLGEIPTYGLAGNREEQEELMDFERDEERSANGGSESDGEENIGWSTVNLDEEKQQQDFSASSTTILDEEPIVNRGLAAALLLCQNKGLLETTVQKVARVKAPNKSLPSAVYCIEDKMAIDDKYSRREEYRGFTQDFKEKDGYKPDVKIEYVDETGRKLTPKEAFRQLSHRFHGKGSGKMKTERRMKKLDEEALLKKMSSSDTPLGTVALLQEKQKAQKTPYIVLSGSGKSMNANTITK", "length": 800, "header": "sp|O43290-1|SNUT1_HUMAN Isoform 1 of U4/U6.U5 tri-snRNP-associated protein 1 OS=Homo sapiens OX=9606 GN=SART1 PE=1 SV=1 CANONICAL=O43290-1" }, "locus": { "chromosome": "11", "start_pos": 65979027, "end_pos": 65961781, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000312397.10", "url": "https://www.ensembl.org/id/ENST00000312397.10" }, { "database": "Ensembl Peptide", "id": "ENSP00000310448.5", "url": "https://www.ensembl.org/id/ENSP00000310448.5" } ] } } ], "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": 258, "start_aa": "Thr", "end_pos": 258, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr258", "evidence": [ { "id": "O43290", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43290" }, { "id": "32522876", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32522876" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" }, { "id": "38253038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38253038" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" }, { "id": "34229054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34229054" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 556, "start_aa": "Thr", "end_pos": 556, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr556", "evidence": [ { "id": "O43290", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O43290" }, { "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": 781, "start_aa": "Thr", "end_pos": 781, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr781", "evidence": [ { "id": "O43290", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O43290" }, { "id": "31373491", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31373491" } ] } ], "phosphorylation": [ { "start_pos": 123, "end_pos": 123, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O43290", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43290" }, { "database": "PubMed", "id": "18491316", "url": "https://glygen.org/publication/PubMed/18491316" } ], "site_lbl": "Thr123" }, { "start_pos": 189, "end_pos": 189, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "O43290", "url": "https://www.uniprot.org/uniprot/O43290" } ], "site_lbl": "Thr189" }, { "start_pos": 321, "end_pos": 321, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O43290", "url": "https://www.uniprot.org/uniprot/O43290" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O43290", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43290" } ], "site_lbl": "Ser321" }, { "start_pos": 348, "end_pos": 348, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O43290", "url": "https://www.uniprot.org/uniprot/O43290" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O43290", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43290" } ], "site_lbl": "Ser348" }, { "start_pos": 392, "end_pos": 392, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "O43290", "url": "https://www.uniprot.org/uniprot/O43290" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O43290", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43290" }, { "database": "PubMed", "id": "15302935", "url": "https://glygen.org/publication/PubMed/15302935" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "phospho.ELM", "id": "O43290", "url": "http://phospho.elm.eu.org/byAccession/O43290.html" } ], "site_lbl": "Thr392" }, { "start_pos": 430, "end_pos": 430, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "O43290", "url": "https://www.uniprot.org/uniprot/O43290" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" }, { "database": "PubMed", "id": "17525332", "url": "https://glygen.org/publication/PubMed/17525332" }, { "database": "iPTMnet", "id": "O43290", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43290" }, { "database": "phospho.ELM", "id": "O43290", "url": "http://phospho.elm.eu.org/byAccession/O43290.html" } ], "site_lbl": "Thr430" }, { "start_pos": 448, "end_pos": 448, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O43290", "url": "https://www.uniprot.org/uniprot/O43290" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "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": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" }, { "database": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" }, { "database": "PubMed", "id": "18220336", "url": "https://glygen.org/publication/PubMed/18220336" }, { "database": "iPTMnet", "id": "O43290", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43290" }, { "database": "PubMed", "id": "18212344", "url": "https://glygen.org/publication/PubMed/18212344" }, { "database": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" }, { "database": "PubMed", "id": "18707149", "url": "https://glygen.org/publication/PubMed/18707149" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" }, { "database": "PubMed", "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995" }, { "database": "PubMed", "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139" }, { "database": "phospho.ELM", "id": "O43290", "url": "http://phospho.elm.eu.org/byAccession/O43290.html" } ], "site_lbl": "Ser448" }, { "start_pos": 463, "end_pos": 463, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O43290", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43290" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "database": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "phospho.ELM", "id": "O43290", "url": "http://phospho.elm.eu.org/byAccession/O43290.html" }, { "database": "PubMed", "id": "18220336", "url": "https://glygen.org/publication/PubMed/18220336" } ], "site_lbl": "Ser463" }, { "start_pos": 466, "end_pos": 466, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O43290", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43290" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "phospho.ELM", "id": "O43290", "url": "http://phospho.elm.eu.org/byAccession/O43290.html" } ], "site_lbl": "Thr466" }, { "start_pos": 474, "end_pos": 474, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O43290", "url": "https://www.uniprot.org/uniprot/O43290" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "O43290", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43290" }, { "database": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "phospho.ELM", "id": "O43290", "url": "http://phospho.elm.eu.org/byAccession/O43290.html" } ], "site_lbl": "Ser474" }, { "start_pos": 486, "end_pos": 486, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O43290", "url": "https://www.uniprot.org/uniprot/O43290" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "iPTMnet", "id": "O43290", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43290" }, { "database": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" }, { "database": "phospho.ELM", "id": "O43290", "url": "http://phospho.elm.eu.org/byAccession/O43290.html" } ], "site_lbl": "Ser486" }, { "start_pos": 521, "end_pos": 521, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O43290", "url": "https://www.uniprot.org/uniprot/O43290" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "iPTMnet", "id": "O43290", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43290" } ], "site_lbl": "Ser521" }, { "start_pos": 591, "end_pos": 591, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O43290", "url": "https://www.uniprot.org/uniprot/O43290" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "iPTMnet", "id": "O43290", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43290" }, { "database": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" }, { "database": "phospho.ELM", "id": "O43290", "url": "http://phospho.elm.eu.org/byAccession/O43290.html" } ], "site_lbl": "Ser591" }, { "start_pos": 596, "end_pos": 596, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O43290", "url": "https://www.uniprot.org/uniprot/O43290" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "iPTMnet", "id": "O43290", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43290" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "database": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" }, { "database": "phospho.ELM", "id": "O43290", "url": "http://phospho.elm.eu.org/byAccession/O43290.html" }, { "database": "PubMed", "id": "15302935", "url": "https://glygen.org/publication/PubMed/15302935" } ], "site_lbl": "Ser596" }, { "start_pos": 598, "end_pos": 598, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O43290", "url": "https://www.uniprot.org/uniprot/O43290" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "iPTMnet", "id": "O43290", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43290" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "database": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" }, { "database": "phospho.ELM", "id": "O43290", "url": "http://phospho.elm.eu.org/byAccession/O43290.html" } ], "site_lbl": "Ser598" }, { "start_pos": 621, "end_pos": 621, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O43290", "url": "https://www.uniprot.org/uniprot/O43290" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "O43290", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43290" } ], "site_lbl": "Ser621" }, { "start_pos": 695, "end_pos": 695, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "O43290", "url": "https://www.uniprot.org/uniprot/O43290" }, { "database": "PubMed", "id": "17525332", "url": "https://glygen.org/publication/PubMed/17525332" }, { "database": "iPTMnet", "id": "O43290", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43290" }, { "database": "phospho.ELM", "id": "O43290", "url": "http://phospho.elm.eu.org/byAccession/O43290.html" } ], "site_lbl": "Thr695" }, { "start_pos": 761, "end_pos": 761, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O43290", "url": "https://www.uniprot.org/uniprot/O43290" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O43290", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43290" } ], "site_lbl": "Ser761" }, { "start_pos": 764, "end_pos": 764, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "O43290", "url": "https://www.uniprot.org/uniprot/O43290" }, { "database": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" }, { "database": "iPTMnet", "id": "O43290", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43290" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ], "site_lbl": "Thr764" }, { "start_pos": 789, "end_pos": 789, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O43290", "url": "https://www.uniprot.org/uniprot/O43290" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O43290", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43290" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser789" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Functional association of U2 snRNP with the ATP-independent spliceosomal complex E.", "journal": "Molecular cell", "date": "2000", "authors": "Das R, Zhou Z, Reed R", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "10882114", "url": "https://glygen.org/publication/PubMed/10882114" } ] }, { "title": "The protein Aly links pre-messenger-RNA 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": "The 65 and 110 kDa SR-related proteins of the U4/U6.U5 tri-snRNP are essential for the assembly of mature spliceosomes.", "journal": "The EMBO journal", "date": "2001-05-15", "authors": "Makarova O V, Makarov E M, L\u00fchrmann R", "evidence": [ { "database": "UniProtKB", "id": "O43290", "url": "https://www.uniprot.org/uniprot/O43290" } ], "reference": [ { "type": "PubMed", "id": "11350945", "url": "https://glygen.org/publication/PubMed/11350945" } ] }, { "title": "Intron loss in the SART1 genes of Fugu rubripes and Tetraodon nigroviridis.", "journal": "Gene", "date": "2001", "authors": "Bolland D J, Hewitt J E", "evidence": [ { "database": "UniProtKB", "id": "O43290", "url": "https://www.uniprot.org/uniprot/O43290" } ], "reference": [ { "type": "PubMed", "id": "11410364", "url": "https://glygen.org/publication/PubMed/11410364" } ] }, { "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": "O43290", "url": "https://www.uniprot.org/uniprot/O43290" }, { "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": "Large-scale proteomic analysis of the human spliceosome.", "journal": "Genome research", "date": "2002", "authors": "Rappsilber J, Ryder U, Lamond AI, Mann M", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "12176931", "url": "https://glygen.org/publication/PubMed/12176931" } ] }, { "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": "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": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "14713954", "url": "https://glygen.org/publication/PubMed/14713954" } ] }, { "title": "Large-scale characterization of HeLa cell nuclear phosphoproteins.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2004", "authors": "Beausoleil SA, Jedrychowski M, Schwartz D, Elias JE, Villen J, Li J, Cohn MA, Cantley LC, Gygi SP", "evidence": [ { "database": "iPTMnet", "id": "O43290-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43290-1" } ], "reference": [ { "type": "PubMed", "id": "15302935", "url": "https://glygen.org/publication/PubMed/15302935" } ] }, { "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": "The network of protein-protein interactions within the human U4/U6.U5 tri-snRNP.", "journal": "RNA", "date": "2006", "authors": "Liu S, Rauhut R, Vornlocher HP, Luhrmann R", "evidence": [ { "database": "UniProtKB", "id": "O43290", "url": "https://www.uniprot.org/uniprot/O43290" } ], "reference": [ { "type": "PubMed", "id": "16723661", "url": "https://glygen.org/publication/PubMed/16723661" } ] }, { "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": "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": "O43290", "url": "https://www.uniprot.org/uniprot/O43290" }, { "database": "iPTMnet", "id": "O43290-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43290-1" } ], "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": "ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage.", "journal": "Science (New York, N.Y.)", "date": "2007", "authors": "Matsuoka S, Ballif BA, Smogorzewska A, McDonald ER 3rd, Hurov KE, Luo J, Bakalarski CE, Zhao Z, Solimini N, Lerenthal Y, Shiloh Y, Gygi SP, Elledge SJ", "evidence": [ { "database": "UniProtKB", "id": "O43290", "url": "https://www.uniprot.org/uniprot/O43290" }, { "database": "iPTMnet", "id": "O43290-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43290-1" } ], "reference": [ { "type": "PubMed", "id": "17525332", "url": "https://glygen.org/publication/PubMed/17525332" } ] }, { "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": "Hydrophilic interaction chromatography reduces the complexity of the phosphoproteome and improves global phosphopeptide isolation and detection.", "journal": "Molecular & cellular proteomics : MCP", "date": "2008", "authors": "McNulty DE, Annan RS", "evidence": [ { "database": "iPTMnet", "id": "O43290-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43290-1" } ], "reference": [ { "type": "PubMed", "id": "18212344", "url": "https://glygen.org/publication/PubMed/18212344" } ] }, { "title": "Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis.", "journal": "Journal of proteome research", "date": "2008", "authors": "Cantin GT, Yi W, Lu B, Park SK, Xu T, Lee JD, Yates JR 3rd", "evidence": [ { "database": "UniProtKB", "id": "O43290", "url": "https://www.uniprot.org/uniprot/O43290" }, { "database": "iPTMnet", "id": "O43290", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43290" } ], "reference": [ { "type": "PubMed", "id": "18220336", "url": "https://glygen.org/publication/PubMed/18220336" } ] }, { "title": "Isolation of an active step I spliceosome and composition of its RNP core.", "journal": "Nature", "date": "2008", "authors": "Bessonov S, Anokhina M, Will CL, Urlaub H, Luhrmann R", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "18322460", "url": "https://glygen.org/publication/PubMed/18322460" } ] }, { "title": "Motif-specific sampling of phosphoproteomes.", "journal": "Journal of proteome research", "date": "2008", "authors": "Ruse CI, McClatchy DB, Lu B, Cociorva D, Motoyama A, Park SK, Yates JR 3rd", "evidence": [ { "database": "iPTMnet", "id": "O43290-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43290-1" } ], "reference": [ { "type": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ] }, { "title": "Phosphoproteome analysis of the human Chang liver cells using SCX and a complementary mass spectrometric strategy.", "journal": "Proteomics", "date": "2008", "authors": "Sui S, Wang J, Yang B, Song L, Zhang J, Chen M, Liu J, Lu Z, Cai Y, Chen S, Bi W, Zhu Y, He F, Qian X", "evidence": [ { "database": "iPTMnet", "id": "O43290-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43290-1" } ], "reference": [ { "type": "PubMed", "id": "18491316", "url": "https://glygen.org/publication/PubMed/18491316" } ] }, { "title": "Distinct activities of the DExD/H-box splicing factor hUAP56 facilitate stepwise assembly of the spliceosome.", "journal": "Genes & development", "date": "2008", "authors": "Shen H, Zheng X, Shen J, Zhang L, Zhao R, Green MR", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "18593880", "url": "https://glygen.org/publication/PubMed/18593880" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "O43290", "url": "https://www.uniprot.org/uniprot/O43290" }, { "database": "iPTMnet", "id": "O43290-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43290-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Immobilized metal affinity chromatography revisited: pH/acid control toward high selectivity in phosphoproteomics.", "journal": "Journal of proteome research", "date": "2008", "authors": "Tsai CF, Wang YT, Chen YR, Lai CY, Lin PY, Pan KT, Chen JY, Khoo KH, Chen YJ", "evidence": [ { "database": "iPTMnet", "id": "O43290-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43290-1" } ], "reference": [ { "type": "PubMed", "id": "18707149", "url": "https://glygen.org/publication/PubMed/18707149" } ] }, { "title": "Isolation and characterization of post-splicing lariat-intron complexes.", "journal": "Nucleic acids research", "date": "2009", "authors": "Yoshimoto R, Kataoka N, Okawa K, Ohno M", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "19103666", "url": "https://glygen.org/publication/PubMed/19103666" } ] }, { "title": "TFIP11 interacts with mDEAH9, an RNA helicase involved in spliceosome disassembly.", "journal": "International journal of molecular sciences", "date": "2008", "authors": "Wen X, Tannukit S, Paine ML", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "19165350", "url": "https://glygen.org/publication/PubMed/19165350" } ] }, { "title": "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.", "journal": "Analytical chemistry", "date": "2009", "authors": "Gauci S, Helbig AO, Slijper M, Krijgsveld J, Heck AJ, Mohammed S", "evidence": [ { "database": "iPTMnet", "id": "O43290-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43290-1" } ], "reference": [ { "type": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ] }, { "title": "Exon, intron and splice site locations in the spliceosomal B complex.", "journal": "The EMBO journal", "date": "2009", "authors": "Wolf E, Kastner B, Deckert J, Merz C, Stark H, Luhrmann R", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "19536130", "url": "https://glygen.org/publication/PubMed/19536130" } ] }, { "title": "Global effects of kinase inhibitors on signaling networks revealed by quantitative phosphoproteomics.", "journal": "Molecular & cellular proteomics : MCP", "date": "2009", "authors": "Pan C, Olsen JV, Daub H, Mann M", "evidence": [ { "database": "iPTMnet", "id": "O43290-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43290-1" } ], "reference": [ { "type": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ] }, { "title": "Phosphorylation dynamics during early differentiation of human embryonic stem cells.", "journal": "Cell stem cell", "date": "2009", "authors": "Van Hoof D, Munoz J, Braam SR, Pinkse MW, Linding R, Heck AJ, Mummery CL, Krijgsveld J", "evidence": [ { "database": "iPTMnet", "id": "O43290-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43290-1" } ], "reference": [ { "type": "PubMed", "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995" } ] }, { "title": "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.", "journal": "Science signaling", "date": "2009", "authors": "Mayya V, Lundgren DH, Hwang SI, Rezaul K, Wu L, Eng JK, Rodionov V, Han DK", "evidence": [ { "database": "UniProtKB", "id": "O43290", "url": "https://www.uniprot.org/uniprot/O43290" }, { "database": "iPTMnet", "id": "O43290", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43290" } ], "reference": [ { "type": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "O43290", "url": "https://www.uniprot.org/uniprot/O43290" }, { "database": "iPTMnet", "id": "O43290-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43290-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "Phosphoproteome analysis of human liver tissue by long-gradient nanoflow LC coupled with multiple stage MS analysis.", "journal": "Electrophoresis", "date": "2010", "authors": "Han G, Ye M, Liu H, Song C, Sun D, Wu Y, Jiang X, Chen R, Wang C, Wang L, Zou H", "evidence": [ { "database": "iPTMnet", "id": "O43290-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43290-1" } ], "reference": [ { "type": "PubMed", "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139" } ] }, { "title": "Contribution of DEAH-box protein DHX16 in human pre-mRNA splicing.", "journal": "The Biochemical journal", "date": "2010", "authors": "Gencheva M, Kato M, Newo AN, Lin RJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "20423332", "url": "https://glygen.org/publication/PubMed/20423332" } ] }, { "title": "Characterization of purified human Bact spliceosomal complexes reveals compositional and morphological changes during spliceosome activation and first step catalysis.", "journal": "RNA (New York, N.Y.)", "date": "2010", "authors": "Bessonov S, Anokhina M, Krasauskas A, Golas MM, Sander B, 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": "20980672", "url": "https://glygen.org/publication/PubMed/20980672" } ] }, { "title": "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.", "journal": "Science signaling", "date": "2011", "authors": "Rigbolt KT, Prokhorova TA, Akimov V, Henningsen J, Johansen PT, Kratchmarova I, Kassem M, Mann M, Olsen JV, Blagoev B", "evidence": [ { "database": "UniProtKB", "id": "O43290", "url": "https://www.uniprot.org/uniprot/O43290" }, { "database": "iPTMnet", "id": "O43290", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43290" } ], "reference": [ { "type": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" } ] }, { "title": "Semiquantitative proteomic analysis of the human spliceosome via a novel two-dimensional gel electrophoresis method.", "journal": "Molecular and cellular biology", "date": "2011", "authors": "Agafonov DE, Deckert J, Wolf E, Odenwalder P, Bessonov S, Will CL, Urlaub H, Luhrmann R", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "21536652", "url": "https://glygen.org/publication/PubMed/21536652" } ] }, { "title": "Evidence for base-pairing between mammalian U2 and U6 small nuclear ribonucleoprotein particles.", "journal": "Genes & development", "date": "1990", "authors": "Hausner TP, Giglio LM, Weiner AM", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "2176635", "url": "https://glygen.org/publication/PubMed/2176635" } ] }, { "title": "Functional mammalian spliceosomal complex E contains SMN complex proteins in addition to U1 and U2 snRNPs.", "journal": "Nucleic acids research", "date": "2012", "authors": "Makarov EM, Owen N, Bottrill A, Makarova OV", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "22110043", "url": "https://glygen.org/publication/PubMed/22110043" } ] }, { "title": "Dynamic protein-protein interaction wiring of the human spliceosome.", "journal": "Molecular cell", "date": "2012", "authors": "Hegele A, Kamburov A, Grossmann A, Sourlis C, Wowro S, Weimann M, Will CL, Pena V, Luhrmann R, Stelzl U", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "22365833", "url": "https://glygen.org/publication/PubMed/22365833" } ] }, { "title": "CWC22 connects pre-mRNA splicing and exon junction complex assembly.", "journal": "Cell reports", "date": "2012", "authors": "Steckelberg AL, Boehm V, Gromadzka AM, Gehring NH", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "22959432", "url": "https://glygen.org/publication/PubMed/22959432" } ] }, { "title": "Human CWC22 escorts the helicase eIF4AIII to spliceosomes and promotes exon junction complex assembly.", "journal": "Nature structural & molecular biology", "date": "2012", "authors": "Barbosa I, Haque N, Fiorini F, Barrandon C, Tomasetto C, Blanchette M, Le Hir H", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "22961380", "url": "https://glygen.org/publication/PubMed/22961380" } ] }, { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "O43290", "url": "https://www.uniprot.org/uniprot/O43290" }, { "database": "iPTMnet", "id": "O43290", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43290" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "Aly and THO are required for assembly of the human TREX complex and association of TREX components with the spliced mRNA.", "journal": "Nucleic acids research", "date": "2013", "authors": "Chi B, Wang Q, Wu G, Tan M, Wang L, Shi M, Chang X, Cheng H", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "23222130", "url": "https://glygen.org/publication/PubMed/23222130" } ] }, { "title": "Human spliceosomal protein CWC22 plays a role in coupling splicing to exon junction complex deposition and nonsense-mediated decay.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2012", "authors": "Alexandrov A, Colognori D, Shu MD, Steitz JA", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "23236153", "url": "https://glygen.org/publication/PubMed/23236153" } ] }, { "title": "Rearrangements within human spliceosomes captured after exon ligation.", "journal": "RNA (New York, N.Y.)", "date": "2013", "authors": "Ilagan JO, Chalkley RJ, Burlingame AL, Jurica MS", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "23345524", "url": "https://glygen.org/publication/PubMed/23345524" } ] }, { "title": "RNA catalyses nuclear pre-mRNA splicing.", "journal": "Nature", "date": "2013", "authors": "Fica SM, Tuttle N, Novak T, Li NS, Lu J, Koodathingal P, Dai Q, Staley JP, Piccirilli JA", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "24196718", "url": "https://glygen.org/publication/PubMed/24196718" } ] }, { "title": "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.", "journal": "Journal of proteomics", "date": "2014", "authors": "Bian Y, Song C, Cheng K, Dong M, Wang F, Huang J, Sun D, Wang L, Ye M, Zou H", "evidence": [ { "database": "UniProtKB", "id": "O43290", "url": "https://www.uniprot.org/uniprot/O43290" }, { "database": "iPTMnet", "id": "O43290", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43290" } ], "reference": [ { "type": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ] }, { "title": "Identification of a novel component C2ORF3 in the lariat-intron complex: lack of C2ORF3 interferes with pre-mRNA splicing via intron turnover pathway.", "journal": "Genes to cells : devoted to molecular & cellular mechanisms", "date": "2014", "authors": "Yoshimoto R, Okawa K, Yoshida M, Ohno M, Kataoka N", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "24304693", "url": "https://glygen.org/publication/PubMed/24304693" } ] }, { "title": "Mass spectrometry-based relative quantification of proteins in precatalytic and catalytically active spliceosomes by metabolic labeling (SILAC), chemical labeling (iTRAQ), and label-free spectral count.", "journal": "RNA (New York, N.Y.)", "date": "2014", "authors": "Schmidt C, Gronborg M, Deckert J, Bessonov S, Conrad T, Luhrmann R, Urlaub H", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "24448447", "url": "https://glygen.org/publication/PubMed/24448447" } ] }, { "title": "A missense mutation in the splicing factor gene DHX38 is associated with early-onset retinitis pigmentosa with macular coloboma.", "journal": "Journal of medical genetics", "date": "2014", "authors": "Ajmal M, Khan MI, Neveling K, Khan YM, Azam M, Waheed NK, Hamel CP, Ben-Yosef T, De Baere E, Koenekoop RK, Collin RW, Qamar R, Cremers FP", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "24737827", "url": "https://glygen.org/publication/PubMed/24737827" } ] }, { "title": "Structural and functional analysis of the human spliceosomal DEAD-box helicase Prp28.", "journal": "Acta crystallographica. Section D, Biological crystallography", "date": "2014", "authors": "Mohlmann S, Mathew R, Neumann P, Schmitt A, Luhrmann R, Ficner R", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "24914973", "url": "https://glygen.org/publication/PubMed/24914973" } ] }, { "title": "UBL5 is essential for pre-mRNA splicing and sister chromatid cohesion in human cells.", "journal": "EMBO reports", "date": "2014", "authors": "Oka Y, Varmark H, Vitting-Seerup K, Beli P, Waage J, Hakobyan A, Mistrik M, Choudhary C, Rohde M, Bekker-Jensen S, Mailand N", "evidence": [ { "database": "UniProtKB", "id": "O43290", "url": "https://www.uniprot.org/uniprot/O43290" } ], "reference": [ { "type": "PubMed", "id": "25092792", "url": "https://glygen.org/publication/PubMed/25092792" } ] }, { "title": "Mapping of SUMO sites and analysis of SUMOylation changes induced by external stimuli.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "2014", "authors": "Impens F, Radoshevich L, Cossart P, Ribet D", "evidence": [ { "database": "UniProtKB", "id": "O43290", "url": "https://www.uniprot.org/uniprot/O43290" } ], "reference": [ { "type": "PubMed", "id": "25114211", "url": "https://glygen.org/publication/PubMed/25114211" } ] }, { "title": "Uncovering global SUMOylation signaling networks in a site-specific manner.", "journal": "Nat. Struct. Mol. Biol.", "date": "2014", "authors": "Hendriks IA, D'Souza RC, Yang B, Verlaan-de Vries M, Mann M, Vertegaal AC", "evidence": [ { "database": "UniProtKB", "id": "O43290", "url": "https://www.uniprot.org/uniprot/O43290" } ], "reference": [ { "type": "PubMed", "id": "25218447", "url": "https://glygen.org/publication/PubMed/25218447" } ] }, { "title": "Crystal structure of human U1 snRNP, a small nuclear ribonucleoprotein particle, reveals the mechanism of 5' splice site recognition.", "journal": "eLife", "date": "2015", "authors": "Kondo Y, Oubridge C, van Roon AM, Nagai K", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "25555158", "url": "https://glygen.org/publication/PubMed/25555158" } ] }, { "title": "Mammalian pre-mRNA branch site selection by U2 snRNP involves base pairing.", "journal": "Genes & development", "date": "1989", "authors": "Wu J, Manley JL", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "2558966", "url": "https://glygen.org/publication/PubMed/2558966" } ] }, { "title": "System-wide analysis of SUMOylation dynamics in response to replication stress reveals novel small ubiquitin-like modified target proteins and acceptor lysines relevant for genome stability.", "journal": "Mol. Cell. Proteomics", "date": "2015", "authors": "Xiao Zhenyu, Chang Jer-Gung, Hendriks Ivo A, Sigur\u00f0sson J\u00f3n Otti, Olsen Jesper V, Vertegaal Alfred C O", "evidence": [ { "database": "UniProtKB", "id": "O43290", "url": "https://www.uniprot.org/uniprot/O43290" } ], "reference": [ { "type": "PubMed", "id": "25755297", "url": "https://glygen.org/publication/PubMed/25755297" } ] }, { "title": "SUMO-2 orchestrates chromatin modifiers in response to DNA damage.", "journal": "Cell Rep.", "date": "2015", "authors": "Hendriks Ivo A, Treffers Louise W, Verlaan-de Vries Matty, Olsen Jesper V, Vertegaal Alfred C O", "evidence": [ { "database": "UniProtKB", "id": "O43290", "url": "https://www.uniprot.org/uniprot/O43290" } ], "reference": [ { "type": "PubMed", "id": "25772364", "url": "https://glygen.org/publication/PubMed/25772364" } ] }, { "title": "Stable tri-snRNP integration is accompanied by a major structural rearrangement of the spliceosome that is dependent on Prp8 interaction with the 5' splice site.", "journal": "RNA (New York, N.Y.)", "date": "2015", "authors": "Boesler C, Rigo N, Agafonov DE, Kastner B, 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": "26385511", "url": "https://glygen.org/publication/PubMed/26385511" } ] }, { "title": "Mammalian splicing factor SF1 interacts with SURP domains of U2 snRNP-associated proteins.", "journal": "Nucleic acids research", "date": "2015", "authors": "Crisci A, Raleff F, Bagdiul I, Raabe M, Urlaub H, Rain JC, Kramer A", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "26420826", "url": "https://glygen.org/publication/PubMed/26420826" } ] }, { "title": "Noncanonical registers and base pairs in human 5' splice-site selection.", "journal": "Nucleic acids research", "date": "2016", "authors": "Tan J, Ho JX, Zhong Z, Luo S, Chen G, Roca X", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "26969736", "url": "https://glygen.org/publication/PubMed/26969736" } ] }, { "title": "A spliceosome intermediate with loosely associated tri-snRNP accumulates in the absence of Prp28 ATPase activity.", "journal": "Nature communications", "date": "2016", "authors": "Boesler C, Rigo N, Anokhina MM, Tauchert MJ, Agafonov DE, Kastner B, Urlaub H, Ficner R, Will CL, Luhrmann R", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "27377154", "url": "https://glygen.org/publication/PubMed/27377154" } ] }, { "title": "Cryo-EM structure of the spliceosome immediately after branching.", "journal": "Nature", "date": "2016", "authors": "Galej WP, Wilkinson ME, Fica SM, Oubridge C, Newman AJ, Nagai K", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "27459055", "url": "https://glygen.org/publication/PubMed/27459055" } ] }, { "title": "Stoichiometries of U2AF35, U2AF65 and U2 snRNP reveal new early spliceosome assembly pathways.", "journal": "Nucleic acids research", "date": "2017", "authors": "Chen L, Weinmeister R, Kralovicova J, Eperon LP, Vorechovsky I, Hudson AJ, Eperon IC", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "27683217", "url": "https://glygen.org/publication/PubMed/27683217" } ] }, { "title": "Human cactin interacts with DHX8 and SRRM2 to assure efficient pre-mRNA splicing and sister chromatid cohesion.", "journal": "Journal of cell science", "date": "2017", "authors": "Zanini IM, Soneson C, Lorenzi LE, Azzalin CM", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "28062851", "url": "https://glygen.org/publication/PubMed/28062851" } ] }, { "title": "Cryo-EM structure of a human spliceosome activated for step 2 of splicing.", "journal": "Nature", "date": "2017", "authors": "Bertram K, Agafonov DE, Liu WT, Dybkov O, Will CL, Hartmuth K, Urlaub H, Kastner B, Stark H, Luhrmann R", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "28076346", "url": "https://glygen.org/publication/PubMed/28076346" } ] }, { "title": "An Atomic Structure of the Human Spliceosome.", "journal": "Cell", "date": "2017", "authors": "Zhang X, Yan C, Hang J, Finci LI, Lei J, Shi Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "28502770", "url": "https://glygen.org/publication/PubMed/28502770" } ] }, { "title": "Synthesis of a Highly Azide-Reactive and Thermosensitive Biofunctional Reagent for Efficient Enrichment and Large-Scale Identification of O-GlcNAc Proteins by Mass Spectrometry.", "journal": "Analytical chemistry", "date": "2017", "authors": "Zhang W, Liu T, Dong H, Bai H, Tian F, Shi Z, Chen M, Wang J, Qin W, Qian X", "evidence": [ { "database": "O-GlcNAc Database", "id": "O43290", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43290" } ], "reference": [ { "type": "PubMed", "id": "28510447", "url": "https://glygen.org/publication/PubMed/28510447" } ] }, { "title": "Cryo-EM Structure of a Pre-catalytic Human Spliceosome Primed for Activation.", "journal": "Cell", "date": "2017", "authors": "Bertram K, Agafonov DE, Dybkov O, Haselbach D, Leelaram MN, Will CL, Urlaub H, Kastner B, Luhrmann R, Stark H", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "28781166", "url": "https://glygen.org/publication/PubMed/28781166" } ] }, { "title": "Structure of a human catalytic step I spliceosome.", "journal": "Science (New York, N.Y.)", "date": "2018", "authors": "Zhan X, Yan C, Zhang X, Lei J, Shi Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "29301961", "url": "https://glygen.org/publication/PubMed/29301961" } ] }, { "title": "Structure of the human activated spliceosome in three conformational states.", "journal": "Cell research", "date": "2018", "authors": "Zhang X, Yan C, Zhan X, Li L, Lei J, Shi Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "29360106", "url": "https://glygen.org/publication/PubMed/29360106" } ] }, { "title": "Structure and Conformational Dynamics of the Human Spliceosomal B(act) Complex.", "journal": "Cell", "date": "2018", "authors": "Haselbach D, Komarov I, Agafonov DE, Hartmuth K, Graf B, Dybkov O, Urlaub H, Kastner B, Luhrmann R, Stark H", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "29361316", "url": "https://glygen.org/publication/PubMed/29361316" } ] }, { "title": "Spliceosome assembly involves the binding and release of U4 small nuclear ribonucleoprotein.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1988", "authors": "Lamond AI, Konarska MM, Grabowski PJ, Sharp PA", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "2963332", "url": "https://glygen.org/publication/PubMed/2963332" } ] }, { "title": "Structures of the human pre-catalytic spliceosome and its precursor spliceosome.", "journal": "Cell research", "date": "2018", "authors": "Zhan X, Yan C, Zhang X, Lei J, Shi Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "30315277", "url": "https://glygen.org/publication/PubMed/30315277" } ] }, { "title": "A human postcatalytic spliceosome structure reveals essential roles of metazoan factors for exon ligation.", "journal": "Science (New York, N.Y.)", "date": "2019", "authors": "Fica SM, Oubridge C, Wilkinson ME, Newman AJ, Nagai K", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "30705154", "url": "https://glygen.org/publication/PubMed/30705154" } ] }, { "title": "Hypoxia-Associated Factor (HAF) Mediates Neurofibromin Ubiquitination and Degradation Leading to Ras-ERK Pathway Activation in Hypoxia.", "journal": "Molecular cancer research : MCR", "date": "2019", "authors": "Green YS, Sargis T, Reichert EC, Rudasi E, Fuja D, Jonasch E, Koh MY", "evidence": [ { "database": "RefSeq", "id": "NP_005137", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005137" } ], "reference": [ { "type": "PubMed", "id": "30705246", "url": "https://glygen.org/publication/PubMed/30705246" } ] }, { "title": "Structures of the human spliceosomes before and after release of the ligated exon.", "journal": "Cell research", "date": "2019", "authors": "Zhang X, Zhan X, Yan C, Zhang W, Liu D, Lei J, Shi Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "30728453", "url": "https://glygen.org/publication/PubMed/30728453" } ] }, { "title": "Structural Insights into Nuclear pre-mRNA Splicing in Higher Eukaryotes.", "journal": "Cold Spring Harbor perspectives in biology", "date": "2019", "authors": "Kastner B, Will CL, Stark H, Luhrmann R", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "30765414", "url": "https://glygen.org/publication/PubMed/30765414" } ] }, { "title": "Mechanism of 5' splice site transfer for human spliceosome activation.", "journal": "Science (New York, N.Y.)", "date": "2019", "authors": "Charenton C, Wilkinson ME, Nagai K", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "30975767", "url": "https://glygen.org/publication/PubMed/30975767" } ] }, { "title": "Aspartate Residues Far from the Active Site Drive O-GlcNAc Transferase Substrate Selection.", "journal": "Journal of the American Chemical Society", "date": "2019", "authors": "Joiner CM, Levine ZG, Aonbangkhen C, Woo CM, Walker S", "evidence": [ { "database": "O-GlcNAc Atlas", "id": "O43290", "url": "https://oglcnac.org/atlas/detail/O43290" } ], "reference": [ { "type": "PubMed", "id": "31373491", "url": "https://glygen.org/publication/PubMed/31373491" } ] }, { "title": "Structural and functional characterisation of human RNA helicase DHX8 provides insights into the mechanism of RNA-stimulated ADP release.", "journal": "The Biochemical journal", "date": "2019", "authors": "Felisberto-Rodrigues C, Thomas JC, McAndrew C, Le Bihan YV, Burke R, Workman P, van Montfort RLM", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "31409651", "url": "https://glygen.org/publication/PubMed/31409651" } ] }, { "title": "Structural basis for DEAH-helicase activation by G-patch proteins.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2020", "authors": "Studer MK, Ivanovic L, Weber ME, Marti S, Jonas S", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "32179686", "url": "https://glygen.org/publication/PubMed/32179686" } ] }, { "title": "Structural and functional insights into CWC27/CWC22 heterodimer linking the exon junction complex to spliceosomes.", "journal": "Nucleic acids research", "date": "2020", "authors": "Busetto V, Barbosa I, Basquin J, Marquenet E, Hocq R, Hennion M, Paternina JA, Namane A, Conti E, Bensaude O, Le Hir H", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "32329775", "url": "https://glygen.org/publication/PubMed/32329775" } ] }, { "title": "Molecular architecture of the human 17S U2 snRNP.", "journal": "Nature", "date": "2020", "authors": "Zhang Z, Will CL, Bertram K, Dybkov O, Hartmuth K, Agafonov DE, Hofele R, Urlaub H, Kastner B, Luhrmann R, Stark H", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "32494006", "url": "https://glygen.org/publication/PubMed/32494006" } ] }, { "title": "Methylation-directed glycosylation of chromatin factors represses retrotransposon promoters.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2020", "authors": "Boulard M, Rucli S, Edwards JR, Bestor TH", "evidence": [ { "database": "O-GlcNAc Database", "id": "O43290", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43290" } ], "reference": [ { "type": "PubMed", "id": "32522876", "url": "https://glygen.org/publication/PubMed/32522876" } ] }, { "title": "Mechanism of protein-guided folding of the active site U2/U6 RNA during spliceosome activation.", "journal": "Science (New York, N.Y.)", "date": "2020", "authors": "Townsend C, Leelaram MN, Agafonov DE, Dybkov O, Will CL, Bertram K, Urlaub H, Kastner B, Stark H, Luhrmann R", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "33243851", "url": "https://glygen.org/publication/PubMed/33243851" } ] }, { "title": "Suppressing Sart1 to modulate macrophage polarization by siRNA-loaded liposomes: a promising therapeutic strategy for pulmonary fibrosis.", "journal": "Theranostics", "date": "2021", "authors": "Pan T, Zhou Q, Miao K, Zhang L, Wu G, Yu J, Xu Y, Xiong W, Li Y, Wang Y", "evidence": [ { "database": "RefSeq", "id": "NP_005137", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005137" } ], "reference": [ { "type": "PubMed", "id": "33391530", "url": "https://glygen.org/publication/PubMed/33391530" } ] }, { "title": "Structure of a transcribing RNA polymerase II-U1 snRNP complex.", "journal": "Science (New York, N.Y.)", "date": "2021", "authors": "Zhang S, Aibara S, Vos SM, Agafonov DE, Luhrmann R, Cramer P", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "33446560", "url": "https://glygen.org/publication/PubMed/33446560" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "O43290", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43290" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "Synthesis of Na2S2O4 mediated cleavable affinity tag for labeling of O-GlcNAc modified proteins via azide-alkyne cycloaddition.", "journal": "Bioorganic & medicinal chemistry letters", "date": "2021", "authors": "Wang J, Dou B, Zheng L, Cao W, Zeng X, Wen Y, Ma J, Li X", "evidence": [ { "database": "O-GlcNAc Database", "id": "O43290", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43290" } ], "reference": [ { "type": "PubMed", "id": "34229054", "url": "https://glygen.org/publication/PubMed/34229054" } ] }, { "title": "Structural basis of intron selection by U2 snRNP in the presence of covalent inhibitors.", "journal": "Nature communications", "date": "2021", "authors": "Cretu C, Gee P, Liu X, Agrawal A, Nguyen TV, Ghosh AK, Cook A, Jurica M, Larsen NA, Pena V", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "34301950", "url": "https://glygen.org/publication/PubMed/34301950" } ] }, { "title": "Structural basis of branch site recognition by the human spliceosome.", "journal": "Science (New York, N.Y.)", "date": "2022", "authors": "Tholen J, Razew M, Weis F, Galej WP", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "34822310", "url": "https://glygen.org/publication/PubMed/34822310" } ] }, { "title": "Retinitis pigmentosa-linked mutation in DHX38 modulates its splicing activity.", "journal": "PloS one", "date": "2022", "authors": "Obuca M, Cvackova Z, Kubovciak J, Kolar M, Stanek D", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "35385551", "url": "https://glygen.org/publication/PubMed/35385551" } ] }, { "title": "Extracellular arginine availability modulates eIF2\u03b1 O-GlcNAcylation and heme oxygenase 1 translation for cellular homeostasis.", "journal": "Journal of biomedical science", "date": "2023-05-22", "authors": "Hung Yu-Wen, Ouyang Ching, Ping Xiaoli, Qi Yue, Wang Yi-Chang, Kung Hsing-Jien, Ann David K", "evidence": [ { "database": "O-GlcNAc Database", "id": "O43290", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43290" } ], "reference": [ { "type": "PubMed", "id": "37217939", "url": "https://glygen.org/publication/PubMed/37217939" } ] }, { "title": "A compensatory base change in U1 snRNA suppresses a 5' splice site mutation.", "journal": "Cell", "date": "1986", "authors": "Zhuang Y, Weiner AM", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "3757028", "url": "https://glygen.org/publication/PubMed/3757028" } ] }, { "title": "Studying the O-GlcNAcome of human placentas using banked tissue samples.", "journal": "Glycobiology", "date": "2024-01-22", "authors": "Luna Sarai, Malard Florian, Pereckas Michaela, Aoki Mayumi, Aoki Kazahiro, Olivier-Van Stichelen Stephanie", "evidence": [ { "database": "O-GlcNAc Database", "id": "O43290", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43290" } ], "reference": [ { "type": "PubMed", "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038" } ] }, { "title": "Evidence that sequence-independent binding of highly conserved U2 snRNP proteins upstream of the branch site is required for assembly of spliceosomal complex A.", "journal": "Genes & development", "date": "1996", "authors": "Gozani O, Feld R, Reed R", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "8566756", "url": "https://glygen.org/publication/PubMed/8566756" } ] }, { "title": "A human RNA helicase-like protein, HRH1, facilitates nuclear export of spliced mRNA by releasing the RNA from the spliceosome.", "journal": "Genes & development", "date": "1996", "authors": "Ohno M, Shimura Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "8608946", "url": "https://glygen.org/publication/PubMed/8608946" } ] }, { "title": "Association of U2 snRNP with the spliceosomal complex E.", "journal": "Nucleic acids research", "date": "1997", "authors": "Hong W, Bennett M, Xiao Y, Feld Kramer R, Wang C, Reed R", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "9016565", "url": "https://glygen.org/publication/PubMed/9016565" } ] }, { "title": "U2AF65 recruits a novel human DEAD box protein required for the U2 snRNP-branchpoint interaction.", "journal": "Genes & development", "date": "1997", "authors": "Fleckner J, Zhang M, Valcarcel J, Green MR", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "9242493", "url": "https://glygen.org/publication/PubMed/9242493" } ] }, { "title": "A gene encoding antigenic peptides of human squamous cell carcinoma recognized cytotoxic T lymphocytes.", "journal": "J. Exp. Med.", "date": "1998", "authors": "Shichijo S, Nakao M, Imai Y, Takasu H, Kawamoto M, Niiya F, Yang D, Toh Y, Yamana H, Itoh K", "evidence": [ { "database": "UniProtKB", "id": "O43290", "url": "https://www.uniprot.org/uniprot/O43290" } ], "reference": [ { "type": "PubMed", "id": "9449708", "url": "https://glygen.org/publication/PubMed/9449708" } ] }, { "title": "A cooperative interaction between U2AF65 and mBBP/SF1 facilitates branchpoint region recognition.", "journal": "Genes & development", "date": "1998", "authors": "Berglund JA, Abovich N, Rosbash M", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "9512519", "url": "https://glygen.org/publication/PubMed/9512519" } ] }, { "title": "Human homologs of yeast prp16 and prp17 reveal conservation of the mechanism for catalytic step II of pre-mRNA splicing.", "journal": "The EMBO journal", "date": "1998", "authors": "Zhou Z, Reed R", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "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": "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" } ] }, { "title": "Molecular characterization of an autoallergen, Hom s 1, identified by serum IgE from atopic dermatitis patients.", "journal": "J. Invest. Dermatol.", "date": "1998", "authors": "Valenta R, Natter S, Seiberler S, Wichlas S, Maurer D, Hess M, Pavelka M, Grote M, Ferreira F, Szepfalusi Z, Valent P, Stingl G", "evidence": [ { "database": "UniProtKB", "id": "O43290", "url": "https://www.uniprot.org/uniprot/O43290" } ], "reference": [ { "type": "PubMed", "id": "9856836", "url": "https://glygen.org/publication/PubMed/9856836" } ] } ], "pathway": [ { "id": "hsa:9092", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:9092", "resource": "KEGG Pathway" }, { "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" } ], "orthologs": [ { "uniprot_canonical_ac": "Q5XIW8-1", "protein_name": "U4/U6.U5 tri-snRNP-associated protein 1", "gene_name": "Sart1", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MGSSKKHRGEKEAAGTTAAAGTGGTTEQPPRHREHKKHKHRSSGGGSSGGERRKRSRERGAERGSGRRGAEAEARSGAHGRERSQAEPSERRVKREKRDEGYEAAASSKASSGDASSLSIEETNKLRAKLGLKPLEVNAVKKEAGTKEEPVAADVINPMALRQREELREKLAAAKEKRLLNQKLGKIKTLGEDDPWLDDTAAWIERSRQLQKEKDLAEKRAKLLEEMDQEFGVSTLVEEEFEQRRQDLYSARDLQGLTVEHAIDSFREGETVVLTLKDKGVLQEGEDVLVNVNMVDKERADKNVELRKKKPDYLPYAEDESVDDLAQQKPRSILAKYDEELEGERPHSFRLEQGGMADGLRERELEEIRTKLRLQAQSLNTVGPRLASEYLSPEEMVTFKKTKRRVKKIRKKEKEVIMRADDLLPLGEDQTQDGDFGSRLRGRGRRRVPEVEEEALEDEEKDPVAQPPPSDDTRVENMDISDEEDGGALPSGPPELEEDEAELELQKQLEKGRRLRQLQQLQQLRDSGEKVLEIVKKLESRQRGWEEEEDPERKGTIVFNATSEFCRTLGEIPTYGLAGNREEQEELMDFERDEERSANGGSESDGEENIGWSTVNLDEEKQHQDFSASSTTILDEEPIVNRGLAAALLLCQNKGLLETTVQKVARVKAPNKSLPSAVYCIEDKMAIDDKYSRREEYRGFTQDFKEKDGYKPDVKIEYVDETGRKLTPKEAFRQLSHRFHGKGSGKMKTERRMKKLDEEALLKKMSSSDTPLGTVALLQEKQKAQKTPYIVLSGSGKSMNANTITK", "length": 806 }, "evidence": [ { "id": "45925449", "url": "http://www.informatics.jax.org/homology/45925449", "database": "MGI" }, { "id": "O43290", "url": "https://omabrowser.org/oma/group/O43290/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q95TU2-1", "protein_name": "Uncharacterized protein, isoform A", "gene_name": "Dmel\\CG6686", "tax_id": 7227, "organism": "Drosophila melanogaster", "sequence": { "sequence": "MGSSSSGKKHKKDKKNRHRSRSSERPRRVTEDEDVTLDLTDDSSSRHRHHKHKKHKEHRHKHHKQKERERANEVISLEESDSDSFSFFSGSDCVEVPVQAQVQAQAKLRDARESSNRDKERDSGRDRELLRERERERDRERERDRDREKEREREREKERLREREEREREREKERIREREKERLRERERERERERVRELTAPPPPQISKHAEYESRREREIERERDARKRSGRERERERNRERSRSQSPASSSRKPATKEREPSSRSFSPIPENGAGDVLSITETNKLRAKLGLKPLEVDSGPSKAGPPPGSSSQGEIKKPHGEADLSSYKDEWGEFLHKPADNLKEKREAEKLREKLKQRKEKRFLEERLARIKTLGESDEETDNVSKWVDKNKRVVNEREEAMRKAKELEELDEAFGVSEILEQEKTKARQRAYGDSNLKGLRVDHDMDDFGEGRTVILTLKDQDVLNEEEGDTLVNVNMVDEERYKKNVANKKQNPLSYGYNVYEEQYDELGNPIERSVLEKYDDEMEGQPKKRKNFVIGENMDEEREHRRKLLEIKTKLAGKRLETLEDTNLQLASDTYSAEELAKFKKPKKKVKKLRQKLKAEDLAPLAMGEASGSSDFGSRGGRYRDHEDAEMEEFKPQIKVEVEDDDLERVLAKARKLKQKENIIKKPLPVDFESIQREIKPEHVEDTASGVVLTGVDGNIVLNATAEFCRTLGDIPTYGMAGNRNEDSNDMMDFDKTEQPEEHMETHTDEPALSHGTWNSVNPDEVMQPADLDNLGEDLEDRAILDEEPDVGAGVANALRLALSKGYLEKEEKNRPSNTKMAHLQAKNYSIEDKAAGEDEKVGRRDRFHFGPITDFKDKETFKPNVKLDYIDDNGRILNLKEAFRYLSHKFHGKGPGKNKIEKRLKKMEQDGLMKTMSSTDTPLGTLTMLQQKQKETKTAYVVLSGNNKNVPGVSGSAIAKFK", "length": 970 }, "evidence": [ { "id": "O43290", "url": "https://omabrowser.org/oma/group/O43290/", "database": "OMA" } ], "common_name": "Fruit fly" }, { "uniprot_canonical_ac": "Q9Z315-1", "protein_name": "U4/U6.U5 tri-snRNP-associated protein 1", "gene_name": "Sart1", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MGSSKKHRGEKEAAGTTAAAGTGGTTEQPPRHREHKKHKHRSSGGGSSGGERRKRSRERGSERGSGRRGAEAEARSGAHGRERSQAEPSERRVKREKRDDGYEAAASSKASSGDASSLSIEETNKLRAKLGLKPLEVNAVKKEAGTKEEPVAADVINPMALRQREELREKLAAAKEKRLLNQKLGKIKTLGEDDPWLDDTAAWIERSRQLQKEKDLAEKRAKLLEEMDQEFGVSTLVEEEFEQRRQDLYSARDLQGLTVEHAIDSFREGETVVLTLKDKGVLQDGEDVLVNVNMVDKERADKNVELRKKKPDYLPYAEDESVDDLAQQKPRSILAKYDEELEGERPHSFRLEQGGMADGLRERELEEIRTKLRLQAQSLSSVGPRLASEYLSPEEMVTFKKTKRRVKKIRKKEKEVIMRADDLLPLGDQTQDGDFGSRLRGRGRRRVPEVEEEALEDEEKDPVAQPPPSDDTRVENMDISDEEDGGALPPGSPEGLEEDEAELELQKQLEKGRRLRQLQQLQQLRDSGEKVLEIVKKLESRQRGWEEEEDPERKGTIVFNATSEFCRTLGEIPTYGLAGNREEQEELMDFERDEERSANGGSESDGEENIGWSTVNLDEEKQHQDFSASSTTILDEEPIVNRGLAAALLLCQNKGLLETTVQKVARVKAPNKSLPSAVYCIEDKMAIDDKYSRREEYRGFTQDFKEKDGYKPDVKIEYVDETGRKLTPKEAFRQLSHRFHGKGSGKMKTERRMKKLDEEALLKKMSSSDTPLGTVALLQEKQKAQKTPYIVLSGSGKSMNANTITK", "length": 806 }, "evidence": [ { "id": "45925449", "url": "http://www.informatics.jax.org/homology/45925449", "database": "MGI" }, { "id": "O43290", "url": "https://omabrowser.org/oma/group/O43290/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 1, "go_terms": [ { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "O43290", "url": "https://www.uniprot.org/uniprot/O43290" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 10, "go_terms": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "O43290", "url": "https://www.uniprot.org/uniprot/O43290" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "O43290", "url": "https://www.uniprot.org/uniprot/O43290" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "O43290", "url": "https://www.uniprot.org/uniprot/O43290" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "O43290", "url": "https://www.uniprot.org/uniprot/O43290" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "O43290", "url": "https://www.uniprot.org/uniprot/O43290" } ], "pmid": "" }, { "name": "nuclear speck", "id": "GO:0016607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016607", "evidence": [ { "database": "UniProtKB", "id": "O43290", "url": "https://www.uniprot.org/uniprot/O43290" } ], "pmid": "" }, { "name": "Cajal body", "id": "GO:0015030", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015030", "evidence": [ { "database": "UniProtKB", "id": "O43290", "url": "https://www.uniprot.org/uniprot/O43290" } ], "pmid": "" }, { "name": "catalytic step 2 spliceosome", "id": "GO:0071013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071013", "evidence": [ { "database": "UniProtKB", "id": "O43290", "url": "https://www.uniprot.org/uniprot/O43290" } ], "pmid": "" }, { "name": "U4/U6 x U5 tri-snRNP complex", "id": "GO:0046540", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046540", "evidence": [ { "database": "UniProtKB", "id": "O43290", "url": "https://www.uniprot.org/uniprot/O43290" } ], "pmid": "" }, { "name": "U2-type precatalytic spliceosome", "id": "GO:0071005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071005", "evidence": [ { "database": "UniProtKB", "id": "O43290", "url": "https://www.uniprot.org/uniprot/O43290" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 5, "go_terms": [ { "name": "spliceosomal snRNP assembly", "id": "GO:0000387", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000387", "evidence": [ { "database": "UniProtKB", "id": "O43290", "url": "https://www.uniprot.org/uniprot/O43290" } ], "pmid": "" }, { "name": "mRNA splicing, via spliceosome", "id": "GO:0000398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000398", "evidence": [ { "database": "UniProtKB", "id": "O43290", "url": "https://www.uniprot.org/uniprot/O43290" } ], "pmid": "" }, { "name": "maturation of 5S rRNA", "id": "GO:0000481", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000481", "evidence": [ { "database": "UniProtKB", "id": "O43290", "url": "https://www.uniprot.org/uniprot/O43290" } ], "pmid": "" }, { "name": "positive regulation of cytotoxic T cell differentiation", "id": "GO:0045585", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045585", "evidence": [ { "database": "UniProtKB", "id": "O43290", "url": "https://www.uniprot.org/uniprot/O43290" } ], "pmid": "" }, { "name": "mRNA cis splicing, via spliceosome", "id": "GO:0045292", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045292", "evidence": [ { "database": "UniProtKB", "id": "O43290", "url": "https://www.uniprot.org/uniprot/O43290" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 554, "end_pos": 556, "annotation": "n_glycosylation_sequon" }, { "start_pos": 665, "end_pos": 667, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [ 258, 556, 781 ], "snv_sites": [ 76, 428, 467, 556, 758, 760 ], "glycation_sites": [], "phosphorylation_sites": [ 123, 189, 321, 348, 392, 430, 448, 463, 466, 474, 486, 521, 591, 596, 598, 621, 695, 761, 764, 789 ], "sequon_annotation_sites": [ { "start_pos": 554, "end_pos": 556 }, { "start_pos": 665, "end_pos": 667 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 3 }, { "field": "total_sites", "count": 3 }, { "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": 3 } ], "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": 3 }, { "field": "total_sites", "count": 3 }, { "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": 3 } ], "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": 20 }, { "field": "total_sites", "count": 20 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 6 }, { "field": "total_sites", "count": 6 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 } ], "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": 4 }, { "field": "total_sites", "count": 4 } ], "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": 115 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }