{ "uniprot_canonical_ac": "O15371-1", "uniprot_ac": "O15371", "uniprot_id": "EIF3D_HUMAN", "mass": { "chemical_mass": 63973.0, "monoisotopic_mass": 63973.0 }, "refseq": { "ac": "NP_003744", "name": "eukaryotic translation initiation factor 3 subunit D", "summary": "Eukaryotic translation initiation factor-3 (eIF3), the largest of the eIFs, is a multiprotein complex composed of at least ten nonidentical subunits. The complex binds to the 40S ribosome and helps maintain the 40S and 60S ribosomal subunits in a dissociated state. It is also thought to play a role in the formation of the 40S initiation complex by interacting with the ternary complex of eIF2/GTP/methionyl-tRNA, and by promoting mRNA binding. The protein encoded by this gene is the major RNA binding subunit of the eIF3 complex. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003744" }, "gene_names": [ { "name": "EIF3D", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O15371", "id": "O15371" }, { "name": "EIF3D", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003744", "id": "NP_003744" }, { "name": "EIF3S7", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O15371", "id": "O15371" }, { "name": "eIF3-p66; eIF3-zeta; EIF3S7", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003744", "id": "NP_003744" } ], "protein_names": [ { "name": "Eukaryotic translation initiation factor 3 subunit D", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O15371" }, { "name": "Eukaryotic translation initiation factor 3 subunit 7", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15371" }, { "name": "eIF-3-zeta", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15371" }, { "name": "eIF3 p66", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15371" }, { "name": "eIF3d", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15371" }, { "name": "eukaryotic translation initiation factor 3 subunit D", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003744", "id": "NP_003744" }, { "name": "eukaryotic translation initiation factor 3, subunit 7 zeta, 66/67kDa; translation initiation factor eIF3 p66 subunit", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003744", "id": "NP_003744" } ], "function": [ { "annotation": "(Microbial infection) In case of FCV infection, plays a role in the ribosomal termination-reinitiation event leading to the translation of VP2 (PubMed:18056426).", "evidence": [ { "database": "UniProtKB", "id": "O15371", "url": "https://www.uniprot.org/uniprot/O15371#function" }, { "database": "PubMed", "id": "18056426", "url": "https://glygen.org/publication/PubMed/18056426" } ] }, { "annotation": "Breast cancer cell mesenchymal transition and metastasis directed by DAP5/eIF3d-mediated selective mRNA translation.", "evidence": [ { "database": "RefSeq", "id": "NP_003744", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003744" }, { "database": "PubMed", "id": "37314929", "url": "https://glygen.org/publication/PubMed/37314929" } ] }, { "annotation": "EIF3D promoted cervical carcinoma through Warburg effect by interacting with GRP78.", "evidence": [ { "database": "RefSeq", "id": "NP_003744", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003744" }, { "database": "PubMed", "id": "36264610", "url": "https://glygen.org/publication/PubMed/36264610" } ] }, { "annotation": "EIF3d controls the persistent integrated stress response.", "evidence": [ { "database": "RefSeq", "id": "NP_003744", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003744" }, { "database": "PubMed", "id": "37683648", "url": "https://glygen.org/publication/PubMed/37683648" } ] }, { "annotation": "EIF3d: A driver of noncanonical cap-dependent translation of specific mRNAs and a trigger of biological/pathological processes. Review article", "evidence": [ { "database": "RefSeq", "id": "NP_003744", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003744" }, { "database": "PubMed", "id": "36997088", "url": "https://glygen.org/publication/PubMed/36997088" } ] }, { "annotation": "Eukaryotic translation initiation factor-3 (eIF3), the largest of the eIFs, is a multiprotein complex composed of at least ten nonidentical subunits. The complex binds to the 40S ribosome and helps maintain the 40S and 60S ribosomal subunits in a dissociated state. It is also thought to play a role in the formation of the 40S initiation complex by interacting with the ternary complex of eIF2/GTP/methionyl-tRNA, and by promoting mRNA binding. The protein encoded by this gene is the major RNA binding subunit of the eIF3 complex. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_003744", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003744" } ] }, { "annotation": "Translational fidelity screens in mammalian cells reveal eIF3 and eIF4G2 as regulators of start codon selectivity.", "evidence": [ { "database": "RefSeq", "id": "NP_003744", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003744" }, { "database": "PubMed", "id": "37144468", "url": "https://glygen.org/publication/PubMed/37144468" } ] }, { "annotation": "mRNA cap-binding component of the eukaryotic translation initiation factor 3 (eIF-3) complex, a complex required for several steps in the initiation of protein synthesis of a specialized repertoire of mRNAs (PubMed:27462815). The eIF-3 complex associates with the 40S ribosome and facilitates the recruitment of eIF-1, eIF-1A, eIF-2:GTP:methionyl-tRNAi and eIF-5 to form the 43S pre-initiation complex (43S PIC). The eIF-3 complex stimulates mRNA recruitment to the 43S PIC and scanning of the mRNA for AUG recognition. The eIF-3 complex is also required for disassembly and recycling of post-termination ribosomal complexes and subsequently prevents premature joining of the 40S and 60S ribosomal subunits prior to initiation (PubMed:18599441, PubMed:25849773). The eIF-3 complex specifically targets and initiates translation of a subset of mRNAs involved in cell proliferation, including cell cycling, differentiation and apoptosis, and uses different modes of RNA stem-loop binding to exert either translational activation or repression (PubMed:25849773). In the eIF-3 complex, EIF3D specifically recognizes and binds the 7-methylguanosine cap of a subset of mRNAs (PubMed:27462815).", "evidence": [ { "database": "UniProtKB", "id": "O15371", "url": "https://www.uniprot.org/uniprot/O15371#function" }, { "database": "PubMed", "id": "18599441", "url": "https://glygen.org/publication/PubMed/18599441" }, { "database": "PubMed", "id": "27462815", "url": "https://glygen.org/publication/PubMed/27462815" }, { "database": "PubMed", "id": "25849773", "url": "https://glygen.org/publication/PubMed/25849773" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs1569002133", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1569002133" }, { "id": "rs1569002133", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1569002133" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 13, "end_pos": 13, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NPS->NLS).", "chr_id": "22", "chr_pos": "36526084", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P13", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1465830379", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1465830379" }, { "id": "rs1465830379", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1465830379" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 159, "end_pos": 159, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DSS->NSS).", "chr_id": "22", "chr_pos": "36520679", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D159", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O15371", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O15371" } ], "glycoeffect": [], "start_pos": 165, "end_pos": 165, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "22", "chr_pos": "36520661", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R165", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ] }, { "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" ] }, { "evidence": [ { "id": "O15371", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O15371" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 264, "end_pos": 264, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "F", "comment": "Somatic mutation passed 1 out of 6 filters: o-glyco-site-loss (S->F).", "chr_id": "22", "chr_pos": "36518831", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S264", "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": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1378965568", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1378965568" }, { "id": "rs1378965568", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1378965568#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 298, "end_pos": 298, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NEP->NES).", "chr_id": "22", "chr_pos": "36517399", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P298", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1324778908", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1324778908" }, { "id": "rs1324778908", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1324778908" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 309, "end_pos": 309, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NSP->NSS).", "chr_id": "22", "chr_pos": "36517366", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P309", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs370478596", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs370478596" }, { "id": "rs370478596", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs370478596" }, { "id": "rs370478596", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs370478596#frequency_tab" }, { "id": "rs370478596", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs370478596" } ], "glycoeffect": [ "n-glyco-sequon-loss", "n-glyco-sequon-gain" ], "start_pos": 322, "end_pos": 322, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NHN->NHS).", "chr_id": "22", "chr_pos": "36517326", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N322", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs748841398", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748841398" }, { "id": "rs748841398", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748841398" }, { "id": "rs748841398", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748841398" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 423, "end_pos": 423, "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->M).", "chr_id": "22", "chr_pos": "36512541", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T423", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs777441761", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777441761" }, { "id": "rs777441761", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777441761" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 76, "end_pos": 76, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DES->NES).", "chr_id": "22", "chr_pos": "36524676", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D76", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [ { "start_pos": 249, "end_pos": 249, "sequence_org": "D", "sequence_mut": "Q", "comment": "Reduced binding to JUN mRNA; when associated with 262-I-A-263.", "evidence": [ { "database": "UniProtKB", "id": "O15371", "url": "https://www.uniprot.org/uniprot/O15371" }, { "database": "PubMed", "id": "27462815", "url": "https://glygen.org/publication/PubMed/27462815" } ] }, { "start_pos": 262, "end_pos": 263, "sequence_org": "VY", "sequence_mut": "IA", "comment": "Reduced binding to JUN mRNA; when associated with Q-249.", "evidence": [ { "database": "UniProtKB", "id": "O15371", "url": "https://www.uniprot.org/uniprot/O15371" }, { "database": "PubMed", "id": "27462815", "url": "https://glygen.org/publication/PubMed/27462815" } ] }, { "start_pos": 317, "end_pos": 321, "sequence_org": "TYINH", "sequence_mut": "EYENA", "comment": "Reduced binding to JUN mRNA.", "evidence": [ { "database": "UniProtKB", "id": "O15371", "url": "https://www.uniprot.org/uniprot/O15371" }, { "database": "PubMed", "id": "27462815", "url": "https://glygen.org/publication/PubMed/27462815" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "96.59", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000100353", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100353" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "98.34", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000100353", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100353" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "97.84", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000100353", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100353" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "96.19", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000100353", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100353" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "98.76", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000100353", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100353" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "98.74", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000100353", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100353" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "96.99", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000100353", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100353" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "98.94", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000100353", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100353" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "98.28", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000100353", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100353" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "95.05", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000100353", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100353" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "94.37", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000100353", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100353" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "98.46", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000100353", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100353" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "98.63", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000100353", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100353" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O15371", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15371" } ], "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": "O15371", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15371" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O15371", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15371" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O15371", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15371" } ], "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": "O15371", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15371" } ], "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": "down", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "O15371", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15371" } ], "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": "O15371", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15371" } ], "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": "O15371", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15371" } ], "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": "O15371", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15371" } ], "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": "down", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "O15371", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15371" } ], "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ] }, { "significant": "No", "trend": "down", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "O15371", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15371" } ], "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": "O15371", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15371" } ], "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": "O15371", "url": "https://www.uniprot.org/uniprot/O15371" } ], "common_name": "Human" } ], "gene": [ { "name": "EIF3D", "url": "https://www.uniprot.org/uniprot/O15371", "locus": { "chromosome": "22", "start_pos": 36510855, "end_pos": 36529184, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000100353", "url": "https://www.ensembl.org/id/ENSG00000100353" } ] } } ], "crossref": [ { "id": "ENSG00000100353", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100353", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "O15371", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O15371", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "EIF3D", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=EIF3D", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "8664", "url": "https://www.ncbi.nlm.nih.gov/gene/8664", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "3278", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=3278", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "B0QYA5", "url": "https://www.ebi.ac.uk/intact/interactors/id:B0QYA5*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "O15371", "url": "https://www.ebi.ac.uk/intact/interactors/id:O15371*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR007783", "url": "https://www.ebi.ac.uk/interpro/entry/IPR007783", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:8664", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:8664", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "603915", "url": "http://www.omim.org/entry/603915", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O15371", "url": "https://www.nextprot.org/entry/NX_O15371", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "O15371", "url": "https://oglcnac.org/atlas/detail/O15371", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "O15371", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O15371", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "DGWGPCE", "url": "https://omabrowser.org/oma/group/DGWGPCE/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "226064at2759", "url": "http://www.orthodb.org/?query=226064at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR12399", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12399", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR12399:SF0", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12399:SF0", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "6YBD", "url": "https://www.rcsb.org/structure/6YBD", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6YBS", "url": "https://www.rcsb.org/structure/6YBS", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6ZMW", "url": "https://www.rcsb.org/structure/6ZMW", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6ZON", "url": "https://www.rcsb.org/structure/6ZON", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6ZP4", "url": "https://www.rcsb.org/structure/6ZP4", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6ZVJ", "url": "https://www.rcsb.org/structure/6ZVJ", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7A09", "url": "https://www.rcsb.org/structure/7A09", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7QP6", "url": "https://www.rcsb.org/structure/7QP6", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7QP7", "url": "https://www.rcsb.org/structure/7QP7", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF05091", "url": "http://pfam.xfam.org/family/PF05091", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O15371", "url": "https://pharos.nih.gov/targets/O15371", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O15371", "url": "http://purl.obolibrary.org/obo/PR_O15371", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-156827", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-156827", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-72649", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72649", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-72689", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72689", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-72695", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72695", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-72702", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72702", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-72706", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72706", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_003744", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003744", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A0A0D9SGB5", "url": "https://www.uniprot.org/uniprot/A0A0D9SGB5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0D9SGB5-1", "url": "https://www.uniprot.org/uniprot/A0A0D9SGB5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "B0QYA4", "url": "https://www.uniprot.org/uniprot/B0QYA4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "B0QYA4-1", "url": "https://www.uniprot.org/uniprot/B0QYA4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "B0QYA5", "url": "https://www.uniprot.org/uniprot/B0QYA5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "B0QYA5-1", "url": "https://www.uniprot.org/uniprot/B0QYA5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "B0QYA6", "url": "https://www.uniprot.org/uniprot/B0QYA6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "B0QYA6-1", "url": "https://www.uniprot.org/uniprot/B0QYA6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "B0QYA8", "url": "https://www.uniprot.org/uniprot/B0QYA8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "B0QYA8-1", "url": "https://www.uniprot.org/uniprot/B0QYA8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O15371", "url": "https://www.uniprot.org/uniprot/O15371", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O15371-1", "url": "https://www.uniprot.org/uniprot/O15371-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O15371-2", "url": "https://www.uniprot.org/uniprot/O15371-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O15371-3", "url": "https://www.uniprot.org/uniprot/O15371-3", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MAKFMTPVIQDNPSGWGPCAVPEQFRDMPYQPFSKGDRLGKVADWTGATYQDKRYTNKYSSQFGGGSQYAYFHEEDESSFQLVDTARTQKTAYQRNRMRFAQRNLRRDKDRRNMLQFNLQILPKSAKQKERERIRLQKKFQKQFGVRQKWDQKSQKPRDSSVEVRSDWEVKEEMDFPQLMKMRYLEVSEPQDIECCGALEYYDKAFDRITTRSEKPLRSIKRIFHTVTTTDDPVIRKLAKTQGNVFATDAILATLMSCTRSVYSWDIVVQRVGSKLFFDKRDNSDFDLLTVSETANEPPQDEGNSFNSPRNLAMEATYINHNFSQQCLRMGKERYNFPNPNPFVEDDMDKNEIASVAYRYRRWKLGDDIDLIVRCEHDGVMTGANGEVSFINIKTLNEWDSRHCNGVDWRQKLDSQRGAVIATELKNNSYKLARWTCCALLAGSEYLKLGYVSRYHVKDSSRHVILGTQQFKPNEFASQINLSVENAWGILRCVIDICMKLEEGKYLILKDPNKQVIRVYSLPDGTFSSDEDEEEEEEEEEEEEEEET", "length": 548, "header": "sp|O15371-1|EIF3D_HUMAN Isoform 1 of Eukaryotic translation initiation factor 3 subunit D OS=Homo sapiens OX=9606 GN=EIF3D PE=1 SV=1 CANONICAL=O15371-1" }, "isoforms": [ { "isoform_ac": "A0A0D9SGB5-1", "url": "", "sequence": { "sequence": "MKLEEGKYLILKDPNKQVIRVYSLPDGTFSSDEDEEEEEEEEEEEEAGD", "length": 49, "header": "tr|A0A0D9SGB5-1|A0A0D9SGB5_HUMAN Computationally mapped isoform of Eukaryotic translation initiation factor 3 subunit D OS=Homo sapiens OX=9606 GN=EIF3D PE=1 SV=1 CANONICAL=O15371-1" }, "locus": { "chromosome": "22", "start_pos": 36511641, "end_pos": 36511161, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000478547.1", "url": "https://www.ensembl.org/id/ENST00000478547.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000487325.1", "url": "https://www.ensembl.org/id/ENSP00000487325.1" } ] } }, { "isoform_ac": "B0QYA4-1", "url": "", "sequence": { "sequence": "XFDRITTRSEKPLRSIKRIFHTVTTTDDPVIRKLAKTQGNVFATDAILATLMSCTRSVYSWDIVVQRVGSKLFFDKRDNSDFALRTLSVTLCCMVSDHATLLQTS", "length": 105, "header": "tr|B0QYA4-1|B0QYA4_HUMAN Computationally mapped isoform of Eukaryotic translation initiation factor 3 subunit D OS=Homo sapiens OX=9606 GN=EIF3D PE=1 SV=2 CANONICAL=O15371-1" }, "locus": { "chromosome": "22", "start_pos": 36519501, "end_pos": 36517424, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000458572.1", "url": "https://www.ensembl.org/id/ENST00000458572.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000391061.2", "url": "https://www.ensembl.org/id/ENSP00000391061.2" } ] } }, { "isoform_ac": "B0QYA5-1", "url": "", "sequence": { "sequence": "MAKFMTPVIQDNPSGWGPCAVPEQFRDMPYQPFSKGDRLGKVADWTGATYQDKRYTNKYSSQFGGGSQYAYFHEEDESSFQLVDTARTQKTAYQRNRMRFAQRNLRRDKDRRNMLQFNLQILPKSAKQKERERIRLQKKFQKQFGVRQKWDQKSQKPRDSSVEVRSDWEVKEEMDFPQLMKMRYLEVSEPQDIECCGALEYYDKAFDRITTRSEKPLRSIKRIFHTVTTTDDPVIRKLAKTQGNVFATDAILATLMSCTRSVYSWDIVV", "length": 269, "header": "tr|B0QYA5-1|B0QYA5_HUMAN Computationally mapped isoform of Eukaryotic translation initiation factor 3 subunit D OS=Homo sapiens OX=9606 GN=EIF3D PE=1 SV=1 CANONICAL=O15371-1" }, "locus": { "chromosome": "22", "start_pos": 36526121, "end_pos": 36518815, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000455547.5", "url": "https://www.ensembl.org/id/ENST00000455547.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000390438.1", "url": "https://www.ensembl.org/id/ENSP00000390438.1" } ] } }, { "isoform_ac": "B0QYA6-1", "url": "", "sequence": { "sequence": "MAKFMTPVIQDNPSGWGPCAVPEQFRDMPYQPFSKGDRLGKVADWTGATYQDKRYTNKYSSQFGGGSQYAYFHEEDESSFQLVDTARTQKTAYQRNRMRFAQRNLRRDKDRRNMLQFNLQILPKSAKQKERERIRLQKKFQKQFGVRQKWDQKSQKPRDSSVEVRSDWEVKEE", "length": 173, "header": "tr|B0QYA6-1|B0QYA6_HUMAN Computationally mapped isoform of Eukaryotic translation initiation factor 3 subunit D OS=Homo sapiens OX=9606 GN=EIF3D PE=1 SV=1 CANONICAL=O15371-1" }, "locus": { "chromosome": "22", "start_pos": 36526121, "end_pos": 36520635, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000457241.5", "url": "https://www.ensembl.org/id/ENST00000457241.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000403584.1", "url": "https://www.ensembl.org/id/ENSP00000403584.1" } ] } }, { "isoform_ac": "B0QYA8-1", "url": "", "sequence": { "sequence": "MAKFMTPVIQDNPSGWGPCAVPEQFRDMPYQPFSKGDRLGKVADWTGATYQDKRYTNKYSSQFGGGSQYAYFHEEDESSFQLVDTARTQKTAYQRNRMRFAQRNLRRDKDRRNMLQFNLQILP", "length": 123, "header": "tr|B0QYA8-1|B0QYA8_HUMAN Computationally mapped isoform of Eukaryotic translation initiation factor 3 subunit D OS=Homo sapiens OX=9606 GN=EIF3D PE=1 SV=1 CANONICAL=O15371-1" }, "locus": { "chromosome": "22", "start_pos": 36526121, "end_pos": 36523918, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000402116.2", "url": "https://www.ensembl.org/id/ENST00000402116.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000385212.1", "url": "https://www.ensembl.org/id/ENSP00000385212.1" } ] } }, { "isoform_ac": "O15371-1", "url": "", "sequence": { "sequence": "MAKFMTPVIQDNPSGWGPCAVPEQFRDMPYQPFSKGDRLGKVADWTGATYQDKRYTNKYSSQFGGGSQYAYFHEEDESSFQLVDTARTQKTAYQRNRMRFAQRNLRRDKDRRNMLQFNLQILPKSAKQKERERIRLQKKFQKQFGVRQKWDQKSQKPRDSSVEVRSDWEVKEEMDFPQLMKMRYLEVSEPQDIECCGALEYYDKAFDRITTRSEKPLRSIKRIFHTVTTTDDPVIRKLAKTQGNVFATDAILATLMSCTRSVYSWDIVVQRVGSKLFFDKRDNSDFDLLTVSETANEPPQDEGNSFNSPRNLAMEATYINHNFSQQCLRMGKERYNFPNPNPFVEDDMDKNEIASVAYRYRRWKLGDDIDLIVRCEHDGVMTGANGEVSFINIKTLNEWDSRHCNGVDWRQKLDSQRGAVIATELKNNSYKLARWTCCALLAGSEYLKLGYVSRYHVKDSSRHVILGTQQFKPNEFASQINLSVENAWGILRCVIDICMKLEEGKYLILKDPNKQVIRVYSLPDGTFSSDEDEEEEEEEEEEEEEEET", "length": 548, "header": "sp|O15371-1|EIF3D_HUMAN Isoform 1 of Eukaryotic translation initiation factor 3 subunit D OS=Homo sapiens OX=9606 GN=EIF3D PE=1 SV=1 CANONICAL=O15371-1" }, "locus": { "chromosome": "22", "start_pos": 36526121, "end_pos": 36510990, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000216190.13", "url": "https://www.ensembl.org/id/ENST00000216190.13" }, { "database": "Ensembl Peptide", "id": "ENSP00000216190.8", "url": "https://www.ensembl.org/id/ENSP00000216190.8" } ] } }, { "isoform_ac": "O15371-2", "url": "", "sequence": { "sequence": "MAKFMTPVIQDNPSGWGPCAVPEQFRDMPYQPFSKGDRLGKVADWTGATYQDKRNLRRDKDRRNMLQFNLQILPKSAKQKERERIRLQKKFQKQFGVRQKWDQKSQKPRDSSVEVRSDWEVKEEMDFPQLMKMRYLEVSEPQDIECCGALEYYDKAFDRITTRSEKPLRSIKRIFHTVTTTDDPVIRKLAKTQGNVFATDAILATLMSCTRSVYSWDIVVQRVGSKLFFDKRDNSDFDLLTVSETANEPPQDEGNSFNSPRNLAMEATYINHNFSQQCLRMGKERYNFPNPNPFVEDDMDKNEIASVAYRYRRWKLGDDIDLIVRCEHDGVMTGANGEVSFINIKTLNEWDSRHCNGVDWRQKLDSQRGAVIATELKNNSYKLARWTCCALLAGSEYLKLGYVSRYHVKDSSRHVILGTQQFKPNEFASQINLSVENAWGILRCVIDICMKLEEGKYLILKDPNKQVIRVYSLPDGTFSSDEDEEEEEEEEEEEEEEET", "length": 499, "header": "sp|O15371-2|EIF3D_HUMAN Isoform 2 of Eukaryotic translation initiation factor 3 subunit D OS=Homo sapiens OX=9606 GN=EIF3D PE=1 SV=1 CANONICAL=O15371-1" }, "locus": {} }, { "isoform_ac": "O15371-3", "url": "", "sequence": { "sequence": "MAKFMTPVIQDNPSGWGPCAVPEQFRDMPYQPFSKGDRLGKVADWTGATYQDKRYTNKYSSQFGGGSQYAYFHEEDESSFQLVDTARTQKTAYQRNRMRFAQRNLRRDKDRRNMLQFNLQILPKSAKQKERERIRLQKSQKPRDSSVEVRSDWEVKEEMDFPQLMKMRYLEVSEPQDIECCGALEYYDKAFDRITTRSEKPLRSIKRIFHTVTTTDDPVIRKLAKTQGNVFATDAILATLMSCTRSVYSWDIVVQRVGSKLFFDKRDNSDFDLLTVSETANEPPQDEGNSFNSPRNLAMEATYINHNFSQQCLRMGKERYNFPNPNPFVEDDMDKNEIASVAYRYRRWKLGDDIDLIVRCEHDGVMTGANGEVSFINIKTLNEWDSRHCNGVDWRQKLDSQRGAVIATELKNNSYKLARWTCCALLAGSEYLKLGYVSRYHVKDSSRHVILGTQQFKPNEFASQINLSVENAWGILRCVIDICMKLEEGKYLILKDPNKQVIRVYSLPDGTFSSDEDEEEEEEEEEEEEEEET", "length": 533, "header": "sp|O15371-3|EIF3D_HUMAN Isoform 3 of Eukaryotic translation initiation factor 3 subunit D OS=Homo sapiens OX=9606 GN=EIF3D PE=1 SV=1 CANONICAL=O15371-1" }, "locus": {} } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 264, "start_aa": "Ser", "end_pos": 264, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser264", "evidence": [ { "id": "O15371", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O15371" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "35138101", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35138101" }, { "id": "30397120", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30397120" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "32119511", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32119511" }, { "id": "36240223", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36240223" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 423, "start_aa": "Thr", "end_pos": 423, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr423", "evidence": [ { "id": "O15371", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O15371" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "35138101", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35138101" }, { "id": "30397120", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30397120" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "32119511", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32119511" }, { "id": "36240223", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36240223" }, { "id": "O15371", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O15371" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 79, "start_aa": "Ser", "end_pos": 79, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser79", "evidence": [ { "id": "O15371", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O15371" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "35138101", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35138101" }, { "id": "30397120", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30397120" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "32119511", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32119511" }, { "id": "36240223", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36240223" }, { "id": "O15371", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O15371" } ] } ], "phosphorylation": [ { "start_pos": 161, "end_pos": 161, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O15371", "url": "https://www.uniprot.org/uniprot/O15371" }, { "database": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" }, { "database": "iPTMnet", "id": "O15371", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15371" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ], "site_lbl": "Ser161" }, { "start_pos": 230, "end_pos": 230, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O15371", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15371" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr230" }, { "start_pos": 308, "end_pos": 308, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O15371", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15371" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "phospho.ELM", "id": "O15371", "url": "http://phospho.elm.eu.org/byAccession/O15371.html" } ], "site_lbl": "Ser308" }, { "start_pos": 318, "end_pos": 318, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O15371", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15371" }, { "database": "PubMed", "id": "15592455", "url": "https://glygen.org/publication/PubMed/15592455" } ], "site_lbl": "Tyr318" }, { "start_pos": 520, "end_pos": 520, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O15371", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15371" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "phospho.ELM", "id": "O15371", "url": "http://phospho.elm.eu.org/byAccession/O15371.html" } ], "site_lbl": "Tyr520" }, { "start_pos": 521, "end_pos": 521, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O15371", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15371" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ], "site_lbl": "Ser521" }, { "start_pos": 526, "end_pos": 526, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O15371", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15371" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "database": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" } ], "site_lbl": "Thr526" }, { "start_pos": 528, "end_pos": 528, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O15371", "url": "https://www.uniprot.org/uniprot/O15371" }, { "database": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" }, { "database": "iPTMnet", "id": "O15371", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15371" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "database": "PubMed", "id": "18088087", "url": "https://glygen.org/publication/PubMed/18088087" }, { "database": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" }, { "database": "PubMed", "id": "19415658", "url": "https://glygen.org/publication/PubMed/19415658" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "phospho.ELM", "id": "O15371", "url": "http://phospho.elm.eu.org/byAccession/O15371.html" } ], "site_lbl": "Ser528" }, { "start_pos": 529, "end_pos": 529, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O15371", "url": "https://www.uniprot.org/uniprot/O15371" }, { "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": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" }, { "database": "iPTMnet", "id": "O15371", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15371" }, { "database": "PubMed", "id": "18088087", "url": "https://glygen.org/publication/PubMed/18088087" }, { "database": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" }, { "database": "PubMed", "id": "19415658", "url": "https://glygen.org/publication/PubMed/19415658" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" }, { "database": "phospho.ELM", "id": "O15371", "url": "http://phospho.elm.eu.org/byAccession/O15371.html" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ], "site_lbl": "Ser529" }, { "start_pos": 67, "end_pos": 67, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O15371", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15371" }, { "database": "PubMed", "id": "17525332", "url": "https://glygen.org/publication/PubMed/17525332" } ], "site_lbl": "Ser67" }, { "start_pos": 91, "end_pos": 91, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O15371", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15371" }, { "database": "PubMed", "id": "19664994", "url": "https://glygen.org/publication/PubMed/19664994" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr91" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Ded1p, a DEAD-box protein required for translation initiation in Saccharomyces cerevisiae, is an RNA helicase.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Iost I, Dreyfus M, Linder P", "evidence": [ { "database": "Reactome", "id": "R-HSA-72702", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72702" } ], "reference": [ { "type": "PubMed", "id": "10364207", "url": "https://glygen.org/publication/PubMed/10364207" } ] }, { "title": "The joining of ribosomal subunits in eukaryotes requires eIF5B.", "journal": "Nature", "date": "2000", "authors": "Pestova TV, Lomakin IB, Lee JH, Choi SK, Dever TE, Hellen CU", "evidence": [ { "database": "Reactome", "id": "R-HSA-72706", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72706" } ], "reference": [ { "type": "PubMed", "id": "10659855", "url": "https://glygen.org/publication/PubMed/10659855" } ] }, { "title": "Purification and characterization of homogeneous initiation factor M2A from rabbit reticulocytes.", "journal": "The Journal of biological chemistry", "date": "1975", "authors": "Merrick WC, Kemper WM, Anderson WF", "evidence": [ { "database": "Reactome", "id": "R-HSA-72706", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72706" } ], "reference": [ { "type": "PubMed", "id": "1095581", "url": "https://glygen.org/publication/PubMed/1095581" } ] }, { "title": "A multifactor complex of eukaryotic initiation factors, eIF1, eIF2, eIF3, eIF5, and initiator tRNA(Met) is an important translation initiation intermediate in vivo.", "journal": "Genes & development", "date": "2000", "authors": "Asano K, Clayton J, Shalev A, Hinnebusch AG", "evidence": [ { "database": "Reactome", "id": "R-HSA-72706", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72706" } ], "reference": [ { "type": "PubMed", "id": "11018020", "url": "https://glygen.org/publication/PubMed/11018020" } ] }, { "title": "Binding of MET-TRNAf and GTP to homogeneous initiation factor MP.", "journal": "The Journal of biological chemistry", "date": "1975", "authors": "Safer B, Adams SL, Anderson WF, Merrick WC", "evidence": [ { "database": "Reactome", "id": "R-HSA-72695", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72695" } ], "reference": [ { "type": "PubMed", "id": "1104615", "url": "https://glygen.org/publication/PubMed/1104615" } ] }, { "title": "Mammalian translation initiation factor eIF1 functions with eIF1A and eIF3 in the formation of a stable 40 S preinitiation complex.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Majumdar R, Bandyopadhyay A, Maitra U", "evidence": [ { "database": "Reactome", "id": "R-HSA-72689", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72689" } ], "reference": [ { "type": "PubMed", "id": "12493757", "url": "https://glygen.org/publication/PubMed/12493757" } ] }, { "title": "Transcript-selective translational silencing by gamma interferon is directed by a novel structural element in the ceruloplasmin mRNA 3' untranslated region.", "journal": "Molecular and cellular biology", "date": "2003", "authors": "Sampath P, Mazumder B, Seshadri V, Fox PL", "evidence": [ { "database": "Reactome", "id": "R-HSA-156827", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-156827" } ], "reference": [ { "type": "PubMed", "id": "12588972", "url": "https://glygen.org/publication/PubMed/12588972" } ] }, { "title": "The genome-linked protein VPg of the Norwalk virus binds eIF3, suggesting its role in translation initiation complex recruitment.", "journal": "EMBO J.", "date": "2003", "authors": "Daughenbaugh Katie F, Fraser Chris S, Hershey John W B, Hardy Michele E", "evidence": [ { "database": "UniProtKB", "id": "O15371", "url": "https://www.uniprot.org/uniprot/O15371" } ], "reference": [ { "type": "PubMed", "id": "12773399", "url": "https://glygen.org/publication/PubMed/12773399" } ] }, { "title": "Regulated release of L13a from the 60S ribosomal subunit as a mechanism of transcript-specific translational control.", "journal": "Cell", "date": "2003", "authors": "Mazumder B, Sampath P, Seshadri V, Maitra RK, DiCorleto PE, Fox PL", "evidence": [ { "database": "Reactome", "id": "R-HSA-156827", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-156827" } ], "reference": [ { "type": "PubMed", "id": "14567916", "url": "https://glygen.org/publication/PubMed/14567916" } ] }, { "title": "Immunoaffinity profiling of tyrosine phosphorylation in cancer cells.", "journal": "Nature biotechnology", "date": "2005", "authors": "Rush J, Moritz A, Lee KA, Guo A, Goss VL, Spek EJ, Zhang H, Zha XM, Polakiewicz RD, Comb MJ", "evidence": [ { "database": "iPTMnet", "id": "O15371-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15371-1" } ], "reference": [ { "type": "PubMed", "id": "15592455", "url": "https://glygen.org/publication/PubMed/15592455" } ] }, { "title": "Binding of eukaryotic initiation factor 3 to ribosomal 40S subunits and its role in ribosomal dissociation and anti-association.", "journal": "RNA", "date": "2005", "authors": "Kolupaeva VG, Unbehaun A, Lomakin IB, Hellen CU, Pestova TV", "evidence": [ { "database": "UniProtKB", "id": "O15371", "url": "https://www.uniprot.org/uniprot/O15371" } ], "reference": [ { "type": "PubMed", "id": "15703437", "url": "https://glygen.org/publication/PubMed/15703437" } ] }, { "title": "Structural roles for human translation factor eIF3 in initiation of protein synthesis.", "journal": "Science", "date": "2005", "authors": "Siridechadilok Bunpote, Fraser Christopher S, Hall Richard J, Doudna Jennifer A, Nogales Eva", "evidence": [ { "database": "UniProtKB", "id": "O15371", "url": "https://www.uniprot.org/uniprot/O15371" } ], "reference": [ { "type": "PubMed", "id": "16322461", "url": "https://glygen.org/publication/PubMed/16322461" } ] }, { "title": "Translation initiation factor eIF4G-1 binds to eIF3 through the eIF3e subunit.", "journal": "J. Biol. Chem.", "date": "2006", "authors": "LeFebvre Aaron K, Korneeva Nadejda L, Trutschl Marjan, Cvek Urska, Duzan Roy D, Bradley Christopher A, Hershey John W B, Rhoads Robert E", "evidence": [ { "database": "UniProtKB", "id": "O15371", "url": "https://www.uniprot.org/uniprot/O15371" } ], "reference": [ { "type": "PubMed", "id": "16766523", "url": "https://glygen.org/publication/PubMed/16766523" } ] }, { "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": "iPTMnet", "id": "O15371-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15371-1" } ], "reference": [ { "type": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ] }, { "title": "Structural characterization of the human eukaryotic initiation factor 3 protein complex by mass spectrometry.", "journal": "Mol. Cell. Proteomics", "date": "2007", "authors": "Damoc E, Fraser CS, Zhou M, Videler H, Mayeur GL, Hershey JW, Doudna JA, Robinson CV, Leary JA", "evidence": [ { "database": "UniProtKB", "id": "O15371", "url": "https://www.uniprot.org/uniprot/O15371" } ], "reference": [ { "type": "PubMed", "id": "17322308", "url": "https://glygen.org/publication/PubMed/17322308" } ] }, { "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": "iPTMnet", "id": "O15371-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15371-1" } ], "reference": [ { "type": "PubMed", "id": "17525332", "url": "https://glygen.org/publication/PubMed/17525332" } ] }, { "title": "Reconstitution reveals the functional core of mammalian eIF3.", "journal": "EMBO J.", "date": "2007", "authors": "Masutani M, Sonenberg N, Yokoyama S, Imataka H", "evidence": [ { "database": "UniProtKB", "id": "O15371", "url": "https://www.uniprot.org/uniprot/O15371" } ], "reference": [ { "type": "PubMed", "id": "17581632", "url": "https://glygen.org/publication/PubMed/17581632" } ] }, { "title": "The mechanism of an exceptional case of reinitiation after translation of a long ORF reveals why such events do not generally occur in mammalian mRNA translation.", "journal": "Genes & development", "date": "2007-12-01", "authors": "P\u00f6yry Tuija A A, Kaminski Ann, Connell Emma J, Fraser Christopher S, Jackson Richard J", "evidence": [ { "database": "UniProtKB", "id": "O15371", "url": "https://www.uniprot.org/uniprot/O15371" } ], "reference": [ { "type": "PubMed", "id": "18056426", "url": "https://glygen.org/publication/PubMed/18056426" } ] }, { "title": "Phosphoproteome of resting human platelets.", "journal": "J. Proteome Res.", "date": "2008", "authors": "Zahedi RP, Lewandrowski U, Wiesner J, Wortelkamp S, Moebius J, Schutz C, Walter U, Gambaryan S, Sickmann A", "evidence": [ { "database": "UniProtKB", "id": "O15371", "url": "https://www.uniprot.org/uniprot/O15371" }, { "database": "iPTMnet", "id": "O15371-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15371-1" } ], "reference": [ { "type": "PubMed", "id": "18088087", "url": "https://glygen.org/publication/PubMed/18088087" } ] }, { "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": "O15371-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15371-1" } ], "reference": [ { "type": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ] }, { "title": "Function of eukaryotic initiation factor 5 in the formation of an 80 S ribosomal polypeptide chain initiation complex.", "journal": "The Journal of biological chemistry", "date": "1991", "authors": "Chakrabarti A, Maitra U", "evidence": [ { "database": "Reactome", "id": "R-HSA-72706", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72706" } ], "reference": [ { "type": "PubMed", "id": "1856230", "url": "https://glygen.org/publication/PubMed/1856230" } ] }, { "title": "Mass spectrometry reveals modularity and a complete subunit interaction map of the eukaryotic translation factor eIF3.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Zhou M, Sandercock AM, Fraser CS, Ridlova G, Stephens E, Schenauer MR, Yokoi-Fong T, Barsky D, Leary JA, Hershey JW, Doudna JA, Robinson CV", "evidence": [ { "database": "UniProtKB", "id": "O15371", "url": "https://www.uniprot.org/uniprot/O15371" } ], "reference": [ { "type": "PubMed", "id": "18599441", "url": "https://glygen.org/publication/PubMed/18599441" } ] }, { "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": "O15371", "url": "https://www.uniprot.org/uniprot/O15371" }, { "database": "iPTMnet", "id": "O15371-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15371-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.", "journal": "Mol. Cell", "date": "2008", "authors": "Daub H, Olsen JV, Bairlein M, Gnad F, Oppermann FS, Korner R, Greff Z, Keri G, Stemmann O, Mann M", "evidence": [ { "database": "UniProtKB", "id": "O15371", "url": "https://www.uniprot.org/uniprot/O15371" }, { "database": "iPTMnet", "id": "O15371-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15371-1" } ], "reference": [ { "type": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" } ] }, { "title": "Phosphoproteomic analysis of distinct tumor cell lines in response to nocodazole treatment.", "journal": "Proteomics", "date": "2009", "authors": "Nagano K, Shinkawa T, Mutoh H, Kondoh O, Morimoto S, Inomata N, Ashihara M, Ishii N, Aoki Y, Haramura M", "evidence": [ { "database": "iPTMnet", "id": "O15371-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15371-1" } ], "reference": [ { "type": "PubMed", "id": "19415658", "url": "https://glygen.org/publication/PubMed/19415658" } ] }, { "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": "O15371-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15371-1" } ], "reference": [ { "type": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ] }, { "title": "Phosphoproteomic analysis of human embryonic stem cells.", "journal": "Cell stem cell", "date": "2009", "authors": "Brill LM, Xiong W, Lee KB, Ficarro SB, Crain A, Xu Y, Terskikh A, Snyder EY, Ding S", "evidence": [ { "database": "iPTMnet", "id": "O15371-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15371-1" } ], "reference": [ { "type": "PubMed", "id": "19664994", "url": "https://glygen.org/publication/PubMed/19664994" } ] }, { "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": "O15371", "url": "https://www.uniprot.org/uniprot/O15371" }, { "database": "iPTMnet", "id": "O15371", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15371" } ], "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": "O15371", "url": "https://www.uniprot.org/uniprot/O15371" }, { "database": "iPTMnet", "id": "O15371-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15371-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "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": "O15371", "url": "https://www.uniprot.org/uniprot/O15371" }, { "database": "iPTMnet", "id": "O15371", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15371" } ], "reference": [ { "type": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" } ] }, { "title": "Knockdown of EIF3D suppresses proliferation of human melanoma cells through G2/M phase arrest.", "journal": "Biotechnol. Appl. Biochem.", "date": "2015", "authors": "Li Hui, Zhou Fusheng, Wang Hongyan, Lin Da, Chen Gang, Zuo Xianbo, Sun Liangdan, Zhang Xuejun, Yang Sen", "evidence": [ { "database": "UniProtKB", "id": "O15371", "url": "https://www.uniprot.org/uniprot/O15371" } ], "reference": [ { "type": "PubMed", "id": "25322666", "url": "https://glygen.org/publication/PubMed/25322666" } ] }, { "title": "Lentivirus-mediated knockdown of eukaryotic translation initiation factor 3 subunit D inhibits proliferation of HCT116 colon cancer cells.", "journal": "Biosci. Rep.", "date": "2014", "authors": "Yu Xiaojun, Zheng Bo'an, Chai Rui", "evidence": [ { "database": "UniProtKB", "id": "O15371", "url": "https://www.uniprot.org/uniprot/O15371" } ], "reference": [ { "type": "PubMed", "id": "25370813", "url": "https://glygen.org/publication/PubMed/25370813" } ] }, { "title": "RNAi-mediated silencing of eif3d alleviates proliferation and migration of glioma U251 and U87MG cells.", "journal": "Chem. Biol. Drug Des.", "date": "2015", "authors": "Ren Mingliang, Zhou Chun, Liang Hong, Wang Xuhui, Xu Lunshan", "evidence": [ { "database": "UniProtKB", "id": "O15371", "url": "https://www.uniprot.org/uniprot/O15371" } ], "reference": [ { "type": "PubMed", "id": "25682860", "url": "https://glygen.org/publication/PubMed/25682860" } ] }, { "title": "Neomorphic effects of recurrent somatic mutations in Yin Yang 1 in insulin-producing adenomas.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "2015", "authors": "Cromer MK, Choi M, Nelson-Williams C, Fonseca AL, Kunstman JW, Korah RM, Overton JD, Mane S, Kenney B, Malchoff CD, Stalberg P, Akerstrom G, Westin G, Hellman P, Carling T, Bjorklund P, Lifton RP", "evidence": [ { "database": "UniProtKB", "id": "O15371", "url": "https://www.uniprot.org/uniprot/O15371" } ], "reference": [ { "type": "PubMed", "id": "25787250", "url": "https://glygen.org/publication/PubMed/25787250" } ] }, { "title": "eIF3 targets cell-proliferation messenger RNAs for translational activation or repression.", "journal": "Nature", "date": "2015-06-04", "authors": "Lee Amy S Y, Kranzusch Philip J, Cate Jamie H D", "evidence": [ { "database": "UniProtKB", "id": "O15371", "url": "https://www.uniprot.org/uniprot/O15371" } ], "reference": [ { "type": "PubMed", "id": "25849773", "url": "https://glygen.org/publication/PubMed/25849773" } ] }, { "title": "Knockdown of eIF3d inhibits cell proliferation through G2/M phase arrest in non-small cell lung cancer.", "journal": "Med. Oncol.", "date": "2015", "authors": "Lin Zhifeng, Xiong Liwen, Lin Qiang", "evidence": [ { "database": "UniProtKB", "id": "O15371", "url": "https://www.uniprot.org/uniprot/O15371" } ], "reference": [ { "type": "PubMed", "id": "26008152", "url": "https://glygen.org/publication/PubMed/26008152" } ] }, { "title": "The oncogenic role of EIF3D is associated with increased cell cycle progression and motility in prostate cancer.", "journal": "Med. Oncol.", "date": "2015", "authors": "Gao Yi, Teng Jingfei, Hong Yi, Qu Fajun, Ren Jizhong, Li Lin, Pan Xiuwu, Chen Lu, Yin Lei, Xu Danfeng, Cui Xingang", "evidence": [ { "database": "UniProtKB", "id": "O15371", "url": "https://www.uniprot.org/uniprot/O15371" } ], "reference": [ { "type": "PubMed", "id": "26036682", "url": "https://glygen.org/publication/PubMed/26036682" } ] }, { "title": "Knockdown of eIF3D inhibits breast cancer cell proliferation and invasion through suppressing the Wnt/beta-catenin signaling pathway.", "journal": "Int. J. Clin. Exp. Pathol.", "date": "2015", "authors": "Fan Yan, Guo Yufei", "evidence": [ { "database": "UniProtKB", "id": "O15371", "url": "https://www.uniprot.org/uniprot/O15371" } ], "reference": [ { "type": "PubMed", "id": "26617750", "url": "https://glygen.org/publication/PubMed/26617750" } ] }, { "title": "EIF3D silencing suppresses renal cell carcinoma tumorigenesis via inducing G2/M arrest through downregulation of Cyclin B1/CDK1 signaling.", "journal": "Int. J. Oncol.", "date": "2016", "authors": "Pan XW, Chen L, Hong Y, Xu DF, Liu X, Li L, Huang Y, Cui LM, Gan SS, Yang QW, Huang H, Qu FJ, Ye JQ, Wang LH, Cui XG", "evidence": [ { "database": "UniProtKB", "id": "O15371", "url": "https://www.uniprot.org/uniprot/O15371" } ], "reference": [ { "type": "PubMed", "id": "27035563", "url": "https://glygen.org/publication/PubMed/27035563" } ] }, { "title": "eIF3d is an mRNA cap-binding protein that is required for specialized translation initiation.", "journal": "Nature", "date": "2016", "authors": "Lee AS, Kranzusch PJ, Doudna JA, Cate JH", "evidence": [ { "database": "UniProtKB", "id": "O15371", "url": "https://www.uniprot.org/uniprot/O15371" } ], "reference": [ { "type": "PubMed", "id": "27462815", "url": "https://glygen.org/publication/PubMed/27462815" } ] }, { "title": "Mapping and Quantification of Over 2000 O-linked Glycopeptides in Activated Human T Cells with Isotope-Targeted Glycoproteomics (Isotag).", "journal": "Molecular & cellular proteomics : MCP", "date": "2018", "authors": "Woo CM, Lund PJ, Huang AC, Davis MM, Bertozzi CR, Pitteri SJ", "evidence": [ { "database": "O-GlcNAc Database", "id": "O15371", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O15371" }, { "database": "O-GlcNAc Atlas", "id": "O15371", "url": "https://oglcnac.org/atlas/detail/O15371" } ], "reference": [ { "type": "PubMed", "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928" } ] }, { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "O15371", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O15371" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "Combinatorial regulation of hepatic cytoplasmic signaling and nuclear transcriptional events by the OGT/REV-ERBalpha complex.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2018", "authors": "Berthier A, Vinod M, Porez G, Steenackers A, Alexandre J, Yamakawa N, Gheeraert C, Ploton M, Marechal X, Dubois-Chevalier J, Hovasse A, Schaeffer-Reiss C, Cianferani S, Rolando C, Bray F, Duez H, Eeckhoute J, Lefebvre T, Staels B, Lefebvre P", "evidence": [ { "database": "O-GlcNAc Database", "id": "O15371", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O15371" } ], "reference": [ { "type": "PubMed", "id": "30397120", "url": "https://glygen.org/publication/PubMed/30397120" } ] }, { "title": "Engineering a Proximity-Directed O-GlcNAc Transferase for Selective Protein O-GlcNAcylation in Cells.", "journal": "ACS chemical biology", "date": "2020", "authors": "Ramirez DH, Aonbangkhen C, Wu HY, Naftaly JA, Tang S, O'Meara TR, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "O15371", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O15371" } ], "reference": [ { "type": "PubMed", "id": "32119511", "url": "https://glygen.org/publication/PubMed/32119511" } ] }, { "title": "Proteomic profiling and genome-wide mapping of O-GlcNAc chromatin-associated proteins reveal an O-GlcNAc-regulated genotoxic stress response.", "journal": "Nature communications", "date": "2020", "authors": "Liu Y, Chen Q, Zhang N, Zhang K, Dou T, Cao Y, Liu Y, Li K, Hao X, Xie X, Li W, Ren Y, Zhang J", "evidence": [ { "database": "O-GlcNAc Database", "id": "O15371", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O15371" } ], "reference": [ { "type": "PubMed", "id": "33214551", "url": "https://glygen.org/publication/PubMed/33214551" } ] }, { "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": "O15371", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O15371" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "Truncation of the TPR domain of OGT alters substrate and glycosite selection.", "journal": "Analytical and bioanalytical chemistry", "date": "2021", "authors": "Ramirez DH, Yang B, D'Souza AK, Shen D, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "O15371", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O15371" } ], "reference": [ { "type": "PubMed", "id": "34725712", "url": "https://glygen.org/publication/PubMed/34725712" } ] }, { "title": "Simultaneously Identifying and Distinguishing Glycoproteins with O-GlcNAc and O-GalNAc (the Tn Antigen) in Human Cancer Cells.", "journal": "Analytical chemistry", "date": "2022", "authors": "Xu S, Zheng J, Xiao H, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "O15371", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O15371" } ], "reference": [ { "type": "PubMed", "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862" } ] }, { "title": "Spatiotemporal Activation of Protein O-GlcNAcylation in Living Cells.", "journal": "Journal of the American Chemical Society", "date": "2022", "authors": "He J, Fan Z, Tian Y, Yang W, Zhou Y, Zhu Q, Zhang W, Qin W, Yi W", "evidence": [ { "database": "O-GlcNAc Database", "id": "O15371", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O15371" } ], "reference": [ { "type": "PubMed", "id": "35138101", "url": "https://glygen.org/publication/PubMed/35138101" } ] }, { "title": "Design and Preparation of Novel Nitro-Oxide-Grafted Nanospheres with Enhanced Hydrogen Bonding Interaction for O-GlcNAc Analysis.", "journal": "ACS applied materials & interfaces", "date": "2022-10-26", "authors": "Wu Ci, Shi Song, Hou Chunyan, Luo Yang, Byers Stephen, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "O15371", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O15371" } ], "reference": [ { "type": "PubMed", "id": "36240223", "url": "https://glygen.org/publication/PubMed/36240223" } ] }, { "title": "EIF3D promoted cervical carcinoma through Warburg effect by interacting with GRP78.", "journal": "Journal of obstetrics and gynaecology : the journal of the Institute of Obstetrics and Gynaecology", "date": "2023", "authors": "Liu Q, Liu J, Zheng D, Zhang R, Xiang Y, Xu F, Zhou X, Qin J", "evidence": [ { "database": "RefSeq", "id": "NP_003744", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003744" } ], "reference": [ { "type": "PubMed", "id": "36264610", "url": "https://glygen.org/publication/PubMed/36264610" } ] }, { "title": "eIF3d: a driver of non-canonical cap-dependent translation of specific mRNAs and a trigger of biological/pathological processes.", "journal": "The Journal of biological chemistry", "date": "2023-03-28", "authors": "Ma Shijie, Liu Jing-Yuan, Zhang Jian-Ting", "evidence": [ { "database": "RefSeq", "id": "NP_003744", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003744" } ], "reference": [ { "type": "PubMed", "id": "36997088", "url": "https://glygen.org/publication/PubMed/36997088" } ] }, { "title": "Translational fidelity screens in mammalian cells reveal eIF3 and eIF4G2 as regulators of start codon selectivity.", "journal": "Nucleic acids research", "date": "2023-07-07", "authors": "She Richard, Luo Jingchuan, Weissman Jonathan S", "evidence": [ { "database": "RefSeq", "id": "NP_003744", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003744" } ], "reference": [ { "type": "PubMed", "id": "37144468", "url": "https://glygen.org/publication/PubMed/37144468" } ] }, { "title": "Breast cancer cell mesenchymal transition and metastasis directed by DAP5/eIF3d-mediated selective mRNA translation.", "journal": "Cell reports", "date": "2023-06-27", "authors": "Alard Amandine, Katsara Olga, Rios-Fuller Tiffany, Parra Columba de la, Ozerdem Ugur, Ernlund Amanda, Schneider Robert J", "evidence": [ { "database": "RefSeq", "id": "NP_003744", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003744" } ], "reference": [ { "type": "PubMed", "id": "37314929", "url": "https://glygen.org/publication/PubMed/37314929" } ] }, { "title": "eIF3d controls the persistent integrated stress response.", "journal": "Molecular cell", "date": "2023-09-21", "authors": "Mukhopadhyay Shaoni, Amodeo Maria E, Lee Amy S Y", "evidence": [ { "database": "RefSeq", "id": "NP_003744", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003744" } ], "reference": [ { "type": "PubMed", "id": "37683648", "url": "https://glygen.org/publication/PubMed/37683648" } ] }, { "title": "Binding and release of radiolabeled eukaryotic initiation factors 2 and 3 during 80 S initiation complex formation.", "journal": "The Journal of biological chemistry", "date": "1979", "authors": "Peterson DT, Merrick WC, Safer B", "evidence": [ { "database": "Reactome", "id": "R-HSA-72695", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72695" } ], "reference": [ { "type": "PubMed", "id": "429297", "url": "https://glygen.org/publication/PubMed/429297" } ] }, { "title": "Initiation of mammalian protein synthesis. I. Purification and characterization of seven initiation factors.", "journal": "Journal of molecular biology", "date": "1977", "authors": "Schreier MH, Erni B, Staehelin T", "evidence": [ { "database": "Reactome", "id": "R-HSA-72706", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72706" } ], "reference": [ { "type": "PubMed", "id": "592398", "url": "https://glygen.org/publication/PubMed/592398" } ] }, { "title": "Initiation of mammalian protein synthesis. II. The assembly of the initiation complex with purified initiation factors.", "journal": "Journal of molecular biology", "date": "1977", "authors": "Trachsel H, Erni B, Schreier MH, Staehelin T", "evidence": [ { "database": "Reactome", "id": "R-HSA-72649", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72649" } ], "reference": [ { "type": "PubMed", "id": "592399", "url": "https://glygen.org/publication/PubMed/592399" } ] }, { "title": "The mechanism of action of protein synthesis initiation factors from rabbit reticulocytes.", "journal": "The Journal of biological chemistry", "date": "1978", "authors": "Benne R, Hershey JW", "evidence": [ { "database": "Reactome", "id": "R-HSA-72649", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72649" } ], "reference": [ { "type": "PubMed", "id": "641056", "url": "https://glygen.org/publication/PubMed/641056" } ] }, { "title": "New initiation factor activity required for globin mRNA translation.", "journal": "The Journal of biological chemistry", "date": "1983", "authors": "Grifo JA, Tahara SM, Morgan MA, Shatkin AJ, Merrick WC", "evidence": [ { "database": "Reactome", "id": "R-HSA-72649", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72649" } ], "reference": [ { "type": "PubMed", "id": "6853548", "url": "https://glygen.org/publication/PubMed/6853548" } ] }, { "title": "The role of eIF-4C in protein synthesis initiation complex formation.", "journal": "Biochimica et biophysica acta", "date": "1980", "authors": "Goumans H, Thomas A, Verhoeven A, Voorma HO, Benne R", "evidence": [ { "database": "Reactome", "id": "R-HSA-72689", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72689" } ], "reference": [ { "type": "PubMed", "id": "6901506", "url": "https://glygen.org/publication/PubMed/6901506" } ] }, { "title": "Evaluation of the `scanning model` for initiation of protein synthesis in eucaryotes.", "journal": "Cell", "date": "1980", "authors": "Kozak M", "evidence": [ { "database": "Reactome", "id": "R-HSA-72702", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72702" } ], "reference": [ { "type": "PubMed", "id": "7000367", "url": "https://glygen.org/publication/PubMed/7000367" } ] }, { "title": "Functional dissection of eukaryotic initiation factor 4F: the 4A subunit and the central domain of the 4G subunit are sufficient to mediate internal entry of 43S preinitiation complexes.", "journal": "Molecular and cellular biology", "date": "1996", "authors": "Pestova TV, Shatsky IN, Hellen CU", "evidence": [ { "database": "Reactome", "id": "R-HSA-72702", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72702" } ], "reference": [ { "type": "PubMed", "id": "8943342", "url": "https://glygen.org/publication/PubMed/8943342" } ] }, { "title": "Requirement of the DEAD-Box protein ded1p for messenger RNA translation.", "journal": "Science (New York, N.Y.)", "date": "1997", "authors": "Chuang RY, Weaver PL, Liu Z, Chang TH", "evidence": [ { "database": "Reactome", "id": "R-HSA-72702", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72702" } ], "reference": [ { "type": "PubMed", "id": "9045610", "url": "https://glygen.org/publication/PubMed/9045610" } ] }, { "title": "Structure of cDNAs encoding human eukaryotic initiation factor 3 subunits. Possible roles in RNA binding and macromolecular assembly.", "journal": "J. Biol. Chem.", "date": "1997", "authors": "Asano K, Vornlocher HP, Richter-Cook NJ, Merrick WC, Hinnebusch AG, Hershey JW", "evidence": [ { "database": "UniProtKB", "id": "O15371", "url": "https://www.uniprot.org/uniprot/O15371" } ], "reference": [ { "type": "PubMed", "id": "9341143", "url": "https://glygen.org/publication/PubMed/9341143" } ] }, { "title": "Eukaryotic ribosomes require initiation factors 1 and 1A to locate initiation codons.", "journal": "Nature", "date": "1998", "authors": "Pestova TV, Borukhov SI, Hellen CU", "evidence": [ { "database": "Reactome", "id": "R-HSA-72649", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72649" } ], "reference": [ { "type": "PubMed", "id": "9732867", "url": "https://glygen.org/publication/PubMed/9732867" } ] }, { "title": "A newly identified N-terminal amino acid sequence of human eIF4G binds poly(A)-binding protein and functions in poly(A)-dependent translation.", "journal": "The EMBO journal", "date": "1998", "authors": "Imataka H, Gradi A, Sonenberg N", "evidence": [ { "database": "Reactome", "id": "R-HSA-72649", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72649" } ], "reference": [ { "type": "PubMed", "id": "9857202", "url": "https://glygen.org/publication/PubMed/9857202" } ] } ], "pathway": [ { "id": "hsa:8664", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:8664", "resource": "KEGG Pathway" }, { "id": "R-HSA-156827", "name": "L13a-mediated translational silencing of Ceruloplasmin expression", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-156827", "resource": "Reactome", "description": "L13a-mediated translational silencing of Ceruloplasmin expression" }, { "id": "R-HSA-72649", "name": "Translation initiation complex formation", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72649", "resource": "Reactome", "description": "Translation initiation complex formation" }, { "id": "R-HSA-72689", "name": "Formation of a pool of free 40S subunits", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72689", "resource": "Reactome", "description": "Formation of a pool of free 40S subunits" }, { "id": "R-HSA-72695", "name": "Formation of the ternary complex, and subsequently, the 43S complex", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72695", "resource": "Reactome", "description": "Formation of the ternary complex, and subsequently, the 43S complex" }, { "id": "R-HSA-72702", "name": "Ribosomal scanning and start codon recognition", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72702", "resource": "Reactome", "description": "Ribosomal scanning and start codon recognition" }, { "id": "R-HSA-72706", "name": "GTP hydrolysis and joining of the 60S ribosomal subunit", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72706", "resource": "Reactome", "description": "GTP hydrolysis and joining of the 60S ribosomal subunit" } ], "orthologs": [ { "uniprot_canonical_ac": "O70194-1", "protein_name": "Eukaryotic translation initiation factor 3 subunit D", "gene_name": "Eif3d", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MAKFMTPVIQDNPSGWGPCAVPEQFRDMPYQPFSKGDRLGKVADWTGATYQDKRYTNKYSSQFGGGSQYAYFHEEDETSFQLVDTARTQKTAYQRNRMRFAQRNLRRDKDRRNMVQFNLQTLPKSAKQKERERIRLQKKFQKQFGVRQKWDQKSQKPRDSSVEVRSDWEVKEEMDFPQLMKMRYLEVSEPQDIECCGALEYYDKAFDRITTRSEKPLRSIKRIFHTVTTTDDPVIRKLAKTQGNVFATDAILATLMSCTRSVYSWDIVVQRVGSKLFFDKRDNSDFDLLTVSETANEPPQDEGNSFNSPRNLAMEATYINHNFSQQCLRMGRERYNFPNPNPFVEDDMDKNEIASVAYRYRRWKLGDDIDLIVRCEHDGVMTGANGEVSFINIKTLNEWDSRHCNGVDWRQKLDSQRGAVIATELKNNSYKLARWTCCALLAGSEYLKLGYVSRYHVKDSSRHVILGTQQFKPNEFASQINLSVENAWGILRCVIDICMKLEEGKYLILKDPNKQVIRVYSLPDGTFSSEEDEEDEEEEEEEEEEEET", "length": 548 }, "evidence": [ { "id": "45918082", "url": "http://www.informatics.jax.org/homology/45918082", "database": "MGI" }, { "id": "O15371", "url": "https://omabrowser.org/oma/group/O15371/", "database": "OMA" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "Q6AYK8-1", "protein_name": "Eukaryotic translation initiation factor 3 subunit D", "gene_name": "Eif3d", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MAKFMTPVIQDNPSGWGPCAVPEQFRDMPYQPFSKGDRLGKVADWTGATYQDKRYTNKYSSQFGGGSQYAYFHEEDETSFQLVDTARTQKTAYQRNRMRFAQRNLRRDKDRRNMVQFNLQTLPKSAKQKERERIRLQKKFQKQFGVRQKWDQKSQKPRDSSVEVRSDWEVKEEMDFPQLMKMRYLEVSEPQDIECCGALEYYDKAFDRITTRSEKPLRSIKRIFHTVTTTDDPVIRKLAKTQGNVFATDAILATLMSCTRSVYSWDIVVQRVGSKLFFDKRDNSDFDLLTVSETANEPPQDEGNSFNSPRNLAMEATYINHNFSQQCLRMGRERYNFPNPNPFVEDDMDKNEIASVAYRYRRWKLGDDIDLIVRCEHDGVMTGANGEVSFINIKTLNEWDSRHCNGVDWRQKLDSQRGAVIATELKNNSYKLARWTCCALLAGSEYLKLGYVSRYHVKDSSRHVILGTQQFKPNEFASQINLSVENAWGILRCVIDICMKLEEGKYLILKDPNKQVIRVYSLPDGTFSSEEDEEDEEEEEEEEEEEET", "length": 548 }, "evidence": [ { "id": "45918082", "url": "http://www.informatics.jax.org/homology/45918082", "database": "MGI" }, { "id": "O15371", "url": "https://omabrowser.org/oma/group/O15371/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q9VCK0-1", "protein_name": "Eukaryotic translation initiation factor 3 subunit D-1", "gene_name": "eIF3d1", "tax_id": 7227, "organism": "Drosophila melanogaster", "sequence": { "sequence": "MSETINTAAQFPSFEKPTVQFNEKGWGPCELPDTFKDVPYQPFSKNDRLGKICDWTNTSNNDKKYQNKYASSFGTGIQYSYYHEEDETTFHLVDTARVQKPPHQRGRFRNMRNSRSGRGRNARGGLNTHGMTTLSGKNVKARDPRHGRGMGKKFGHRGPPPKMRESSVAVRADWASIEEMDFPRLIKLSLPNIKEGVDIVTCGTLEYYDKTYDRINVKNEKPLQKIDRIVHTVTTTDDPVIRRLSKTVGNVFATDAILATIMCSTRSNYSWDIVIEKVGDKVFMDKRDHTEFDLLTVNESSVEPPTDDDSSCNSPRNLAIEATFINHNFSQQVLKTGDQEPKYKFEESNPFISEDEDIQVASVGYRYKKWELGSDIVLVARCEHDGVLQTPSGEPQFMTIKALNEWDSKLANGVEWRQKLDTQRGAVLANELRNNACKLAKWTVQAVLAGSDQLKLGYVSRINPRDHSRHVILGTQQFKPHEFATQINLSMDNAWGILRCIIDLVMKQKDGKYLIMKDPNKPIIRLYDIPDNTFDSDDSDDGEGDDEGFQQVYNYAHNKI", "length": 560 }, "evidence": [ { "id": "O15371", "url": "https://omabrowser.org/oma/group/O15371/", "database": "OMA" } ], "common_name": "Fruit fly" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 3, "go_terms": [ { "name": "translation initiation factor activity", "id": "GO:0003743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003743", "evidence": [ { "database": "UniProtKB", "id": "O15371", "url": "https://www.uniprot.org/uniprot/O15371" } ], "pmid": "" }, { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "O15371", "url": "https://www.uniprot.org/uniprot/O15371" } ], "pmid": "" }, { "name": "mRNA cap binding", "id": "GO:0098808", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098808", "evidence": [ { "database": "UniProtKB", "id": "O15371", "url": "https://www.uniprot.org/uniprot/O15371" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 7, "go_terms": [ { "name": "eukaryotic translation initiation factor 3 complex", "id": "GO:0005852", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005852", "evidence": [ { "database": "UniProtKB", "id": "O15371", "url": "https://www.uniprot.org/uniprot/O15371" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "O15371", "url": "https://www.uniprot.org/uniprot/O15371" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "O15371", "url": "https://www.uniprot.org/uniprot/O15371" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "O15371", "url": "https://www.uniprot.org/uniprot/O15371" } ], "pmid": "" }, { "name": "eukaryotic 43S preinitiation complex", "id": "GO:0016282", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016282", "evidence": [ { "database": "UniProtKB", "id": "O15371", "url": "https://www.uniprot.org/uniprot/O15371" } ], "pmid": "" }, { "name": "eukaryotic 48S preinitiation complex", "id": "GO:0033290", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033290", "evidence": [ { "database": "UniProtKB", "id": "O15371", "url": "https://www.uniprot.org/uniprot/O15371" } ], "pmid": "" }, { "name": "eukaryotic translation initiation factor 3 complex, eIF3m", "id": "GO:0071541", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071541", "evidence": [ { "database": "UniProtKB", "id": "O15371", "url": "https://www.uniprot.org/uniprot/O15371" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 7, "go_terms": [ { "name": "IRES-dependent viral translational initiation", "id": "GO:0075522", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0075522", "evidence": [ { "database": "UniProtKB", "id": "O15371", "url": "https://www.uniprot.org/uniprot/O15371" } ], "pmid": "" }, { "name": "translational initiation", "id": "GO:0006413", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006413", "evidence": [ { "database": "UniProtKB", "id": "O15371", "url": "https://www.uniprot.org/uniprot/O15371" } ], "pmid": "" }, { "name": "positive regulation of translation", "id": "GO:0045727", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045727", "evidence": [ { "database": "UniProtKB", "id": "O15371", "url": "https://www.uniprot.org/uniprot/O15371" } ], "pmid": "" }, { "name": "formation of cytoplasmic translation initiation complex", "id": "GO:0001732", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001732", "evidence": [ { "database": "UniProtKB", "id": "O15371", "url": "https://www.uniprot.org/uniprot/O15371" } ], "pmid": "" }, { "name": "viral translational termination-reinitiation", "id": "GO:0075525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0075525", "evidence": [ { "database": "UniProtKB", "id": "O15371", "url": "https://www.uniprot.org/uniprot/O15371" } ], "pmid": "" }, { "name": "positive regulation of mRNA binding", "id": "GO:1902416", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902416", "evidence": [ { "database": "UniProtKB", "id": "O15371", "url": "https://www.uniprot.org/uniprot/O15371" } ], "pmid": "" }, { "name": "cap-dependent translational initiation", "id": "GO:0002191", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002191", "evidence": [ { "database": "UniProtKB", "id": "O15371", "url": "https://www.uniprot.org/uniprot/O15371" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 322, "end_pos": 324, "annotation": "n_glycosylation_sequon" }, { "start_pos": 427, "end_pos": 429, "annotation": "n_glycosylation_sequon" }, { "start_pos": 481, "end_pos": 483, "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": [ 79, 264, 423 ], "snv_sites": [ 13, 76, 159, 165, 264, 298, 309, 322, 423 ], "glycation_sites": [], "phosphorylation_sites": [ 67, 91, 161, 230, 308, 318, 520, 521, 526, 528, 529 ], "sequon_annotation_sites": [ { "start_pos": 322, "end_pos": 324 }, { "start_pos": 427, "end_pos": 429 }, { "start_pos": 481, "end_pos": 483 } ] }, "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": 11 }, { "field": "total_sites", "count": 11 } ], "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": 9 }, { "field": "total_sites", "count": 9 } ], "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": 7 }, { "field": "total_sites", "count": 7 } ], "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": 67 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }