{ "uniprot_canonical_ac": "O75534-1", "uniprot_ac": "O75534", "uniprot_id": "CSDE1_HUMAN", "mass": { "chemical_mass": 88885.0, "monoisotopic_mass": 88885.0 }, "refseq": { "ac": "NP_001007554", "name": "cold shock domain-containing protein E1 isoform 1", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001007554" }, "gene_names": [ { "name": "CSDE1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O75534", "id": "O75534" }, { "name": "CSDE1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001007554", "id": "NP_001007554" }, { "name": "D1S155E; UNR", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001007554", "id": "NP_001007554" }, { "name": "D1S155E", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75534", "id": "O75534" }, { "name": "KIAA0885", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75534", "id": "O75534" }, { "name": "NRU", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75534", "id": "O75534" }, { "name": "UNR", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75534", "id": "O75534" } ], "protein_names": [ { "name": "Cold shock domain-containing protein E1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O75534" }, { "name": "N-ras upstream gene protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75534" }, { "name": "Protein UNR", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75534" }, { "name": "cold shock domain-containing protein E1 isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001007554", "id": "NP_001007554" }, { "name": "upstream of NRAS; NRAS-related; cold shock domain-containing protein E1; cold shock domain containing E1, RNA binding; N-ras upstream gene protein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001007554", "id": "NP_001007554" } ], "function": [ { "annotation": "(Microbial infection) Required for internal initiation of translation of human rhinovirus RNA.", "evidence": [ { "database": "UniProtKB", "id": "O75534", "url": "https://www.uniprot.org/uniprot/O75534#function" }, { "database": "PubMed", "id": "10049359", "url": "https://glygen.org/publication/PubMed/10049359" } ] }, { "annotation": "CSDE1 promotes miR-451 biogenesis.", "evidence": [ { "database": "RefSeq", "id": "NP_001007554", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001007554" }, { "database": "PubMed", "id": "37493604", "url": "https://glygen.org/publication/PubMed/37493604" } ] }, { "annotation": "Cold shock domain-containing protein E1 is a posttranscriptional regulator of the LDL receptor.", "evidence": [ { "database": "RefSeq", "id": "NP_001007554", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001007554" }, { "database": "PubMed", "id": "36103516", "url": "https://glygen.org/publication/PubMed/36103516" } ] }, { "annotation": "Coordinated post-transcriptional control of oncogene-induced senescence by UNR/CSDE1.", "evidence": [ { "database": "RefSeq", "id": "NP_001007554", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001007554" }, { "database": "PubMed", "id": "35021076", "url": "https://glygen.org/publication/PubMed/35021076" } ] }, { "annotation": "Oncolytic virotherapy induced CSDE1 neo-antigenesis restricts VSV replication but can be targeted by immunotherapy. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001007554", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001007554" }, { "database": "PubMed", "id": "33772027", "url": "https://glygen.org/publication/PubMed/33772027" } ] }, { "annotation": "RNA-binding protein involved in translationally coupled mRNA turnover (PubMed:11051545, PubMed:15314026). Implicated with other RNA-binding proteins in the cytoplasmic deadenylation/translational and decay interplay of the FOS mRNA mediated by the major coding-region determinant of instability (mCRD) domain (PubMed:11051545, PubMed:15314026). Required for efficient formation of stress granules (PubMed:29395067).", "evidence": [ { "database": "UniProtKB", "id": "O75534", "url": "https://www.uniprot.org/uniprot/O75534#function" }, { "database": "PubMed", "id": "15314026", "url": "https://glygen.org/publication/PubMed/15314026" }, { "database": "PubMed", "id": "11051545", "url": "https://glygen.org/publication/PubMed/11051545" }, { "database": "PubMed", "id": "29395067", "url": "https://glygen.org/publication/PubMed/29395067" } ] }, { "annotation": "Reduced miR-371b-5p expression drives tumor progression via CSDE1/RAC1 regulation in triple-negative breast cancer.", "evidence": [ { "database": "RefSeq", "id": "NP_001007554", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001007554" }, { "database": "PubMed", "id": "35490208", "url": "https://glygen.org/publication/PubMed/35490208" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs1272124838", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1272124838" }, { "id": "rs1272124838", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1272124838" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 114, "end_pos": 114, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SKS->NKS).", "chr_id": "1", "chr_pos": "114737532", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S114", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs775876540", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775876540" }, { "id": "rs775876540", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs775876540#frequency_tab" }, { "id": "rs775876540", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775876540" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 166, "end_pos": 166, "sequence_org": "K", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NNK->NNT).", "chr_id": "1", "chr_pos": "114736761", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K166", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O75534", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O75534" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 302, "end_pos": 302, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (KDT->NDT).", "chr_id": "1", "chr_pos": "114732748", "ref_nt": "T", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "K302", "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": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs758329518", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758329518" }, { "id": "rs758329518", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758329518" }, { "id": "rs758329518", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs758329518#frequency_tab" }, { "id": "rs758329518", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs758329518" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 304, "end_pos": 304, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (TKS->NKS).", "chr_id": "1", "chr_pos": "114727005", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T304", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O75534", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O75534" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 437, "end_pos": 437, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (TFS->NFS).", "chr_id": "1", "chr_pos": "114730304", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "T437", "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": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs758329518", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758329518" }, { "id": "rs758329518", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758329518" }, { "id": "rs758329518", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs758329518#frequency_tab" }, { "id": "rs758329518", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs758329518" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 443, "end_pos": 443, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (TTS->NTS).", "chr_id": "1", "chr_pos": "114727005", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T443", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs939053043", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs939053043" }, { "id": "rs939053043", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs939053043" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 505, "end_pos": 505, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->I).", "chr_id": "1", "chr_pos": "114726337", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T505", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs910056765", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs910056765" }, { "id": "rs910056765", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs910056765#frequency_tab" }, { "id": "rs910056765", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs910056765" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 517, "end_pos": 517, "sequence_org": "K", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NSK->NST).", "chr_id": "1", "chr_pos": "114726301", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K517", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O75534", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O75534" } ], "glycoeffect": [], "start_pos": 765, "end_pos": 765, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "V", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "1", "chr_pos": "114718668", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A765", "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" } ] }, { "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: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": "rs1172597436", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1172597436" }, { "id": "rs1172597436", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1172597436" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 780, "end_pos": 780, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DNS->NNS).", "chr_id": "1", "chr_pos": "114718624", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D780", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "98.1", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000009307", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000009307" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "97.79", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000009307", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000009307" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "98.61", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000009307", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000009307" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "96.31", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000009307", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000009307" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "99.41", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000009307", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000009307" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "99.2", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000009307", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000009307" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "94.26", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000009307", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000009307" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "99.33", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000009307", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000009307" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "98.93", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000009307", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000009307" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "97.16", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000009307", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000009307" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "98.23", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000009307", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000009307" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "98.78", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000009307", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000009307" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "99.14", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000009307", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000009307" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O75534", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75534" } ], "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": "Yes", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O75534", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75534" } ], "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": "Yes", "trend": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O75534", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75534" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O75534", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75534" } ], "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": "down", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "O75534", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75534" } ], "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": "O75534", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75534" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O75534", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75534" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "O75534", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75534" } ], "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": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "O75534", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75534" } ], "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": "Yes", "trend": "down", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "O75534", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75534" } ], "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "O75534", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75534" } ], "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": "down", "name": "Colorectal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:9256", "evidence": [ { "database": "BioXpress", "id": "O75534", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75534" } ], "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": "O75534", "url": "https://www.uniprot.org/uniprot/O75534" } ], "common_name": "Human" } ], "gene": [ { "name": "CSDE1", "url": "https://www.uniprot.org/uniprot/O75534", "locus": { "chromosome": "1", "start_pos": 114716913, "end_pos": 114758676, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000009307", "url": "https://www.ensembl.org/id/ENSG00000009307" } ] } } ], "crossref": [ { "id": "ENSG00000009307", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000009307", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "O75534", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O75534", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "cd04458", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd04458", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "CSDE1", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=CSDE1", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "7812", "url": "https://www.ncbi.nlm.nih.gov/gene/7812", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "29905", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=29905", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "O75534", "url": "https://www.ebi.ac.uk/intact/interactors/id:O75534*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR002059", "url": "https://www.ebi.ac.uk/interpro/entry/IPR002059", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR011129", "url": "https://www.ebi.ac.uk/interpro/entry/IPR011129", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR012340", "url": "https://www.ebi.ac.uk/interpro/entry/IPR012340", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR019844", "url": "https://www.ebi.ac.uk/interpro/entry/IPR019844", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR024642", "url": "https://www.ebi.ac.uk/interpro/entry/IPR024642", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:7812", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:7812", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "191510", "url": "http://www.omim.org/entry/191510", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O75534", "url": "https://www.nextprot.org/entry/NX_O75534", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "O75534", "url": "https://oglcnac.org/atlas/detail/O75534", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "O75534", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75534", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "PPIMNSD", "url": "https://omabrowser.org/oma/group/PPIMNSD/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "56539at2759", "url": "http://www.orthodb.org/?query=56539at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR12913", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12913", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR12913:SF1", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12913:SF1", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "1WFQ", "url": "https://www.rcsb.org/structure/1WFQ", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1X65", "url": "https://www.rcsb.org/structure/1X65", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2YTV", "url": "https://www.rcsb.org/structure/2YTV", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2YTX", "url": "https://www.rcsb.org/structure/2YTX", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2YTY", "url": "https://www.rcsb.org/structure/2YTY", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00313", "url": "http://pfam.xfam.org/family/PF00313", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF12901", "url": "http://pfam.xfam.org/family/PF12901", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O75534", "url": "https://pharos.nih.gov/targets/O75534", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O75534", "url": "http://purl.obolibrary.org/obo/PR_O75534", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_001007554", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001007554", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A0A1Y8EMC9", "url": "https://www.uniprot.org/uniprot/A0A1Y8EMC9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1Y8EMC9-1", "url": "https://www.uniprot.org/uniprot/A0A1Y8EMC9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I5KNL1", "url": "https://www.uniprot.org/uniprot/A0A8I5KNL1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I5KNL1-1", "url": "https://www.uniprot.org/uniprot/A0A8I5KNL1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I5KPC0", "url": "https://www.uniprot.org/uniprot/A0A8I5KPC0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I5KPC0-1", "url": "https://www.uniprot.org/uniprot/A0A8I5KPC0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I5KPJ6", "url": "https://www.uniprot.org/uniprot/A0A8I5KPJ6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I5KPJ6-1", "url": "https://www.uniprot.org/uniprot/A0A8I5KPJ6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I5KPQ8", "url": "https://www.uniprot.org/uniprot/A0A8I5KPQ8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I5KPQ8-1", "url": "https://www.uniprot.org/uniprot/A0A8I5KPQ8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I5KS07", "url": "https://www.uniprot.org/uniprot/A0A8I5KS07", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I5KS07-1", "url": "https://www.uniprot.org/uniprot/A0A8I5KS07-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I5KTQ3", "url": "https://www.uniprot.org/uniprot/A0A8I5KTQ3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I5KTQ3-1", "url": "https://www.uniprot.org/uniprot/A0A8I5KTQ3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I5KV85", "url": "https://www.uniprot.org/uniprot/A0A8I5KV85", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I5KV85-1", "url": "https://www.uniprot.org/uniprot/A0A8I5KV85-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I5KW29", "url": "https://www.uniprot.org/uniprot/A0A8I5KW29", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I5KW29-1", "url": "https://www.uniprot.org/uniprot/A0A8I5KW29-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I5KW72", "url": "https://www.uniprot.org/uniprot/A0A8I5KW72", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I5KW72-1", "url": "https://www.uniprot.org/uniprot/A0A8I5KW72-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I5KWW0", "url": "https://www.uniprot.org/uniprot/A0A8I5KWW0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I5KWW0-1", "url": "https://www.uniprot.org/uniprot/A0A8I5KWW0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I5KXH5", "url": "https://www.uniprot.org/uniprot/A0A8I5KXH5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I5KXH5-1", "url": "https://www.uniprot.org/uniprot/A0A8I5KXH5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I5KXL1", "url": "https://www.uniprot.org/uniprot/A0A8I5KXL1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I5KXL1-1", "url": "https://www.uniprot.org/uniprot/A0A8I5KXL1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I5KYL4", "url": "https://www.uniprot.org/uniprot/A0A8I5KYL4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I5KYL4-1", "url": "https://www.uniprot.org/uniprot/A0A8I5KYL4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I5KYL8", "url": "https://www.uniprot.org/uniprot/A0A8I5KYL8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I5KYL8-1", "url": "https://www.uniprot.org/uniprot/A0A8I5KYL8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I5KYY8", "url": "https://www.uniprot.org/uniprot/A0A8I5KYY8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I5KYY8-1", "url": "https://www.uniprot.org/uniprot/A0A8I5KYY8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I5QJA6", "url": "https://www.uniprot.org/uniprot/A0A8I5QJA6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I5QJA6-1", "url": "https://www.uniprot.org/uniprot/A0A8I5QJA6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I5QKX0", "url": "https://www.uniprot.org/uniprot/A0A8I5QKX0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I5QKX0-1", "url": "https://www.uniprot.org/uniprot/A0A8I5QKX0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PJK7", "url": "https://www.uniprot.org/uniprot/E9PJK7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PJK7-1", "url": "https://www.uniprot.org/uniprot/E9PJK7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PKN4", "url": "https://www.uniprot.org/uniprot/E9PKN4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PKN4-1", "url": "https://www.uniprot.org/uniprot/E9PKN4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PLD4", "url": "https://www.uniprot.org/uniprot/E9PLD4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PLD4-1", "url": "https://www.uniprot.org/uniprot/E9PLD4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PLT0", "url": "https://www.uniprot.org/uniprot/E9PLT0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PLT0-1", "url": "https://www.uniprot.org/uniprot/E9PLT0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PNG3", "url": "https://www.uniprot.org/uniprot/E9PNG3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PNG3-1", "url": "https://www.uniprot.org/uniprot/E9PNG3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75534", "url": "https://www.uniprot.org/uniprot/O75534", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75534-1", "url": "https://www.uniprot.org/uniprot/O75534-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75534-2", "url": "https://www.uniprot.org/uniprot/O75534-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75534-3", "url": "https://www.uniprot.org/uniprot/O75534-3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75534-4", "url": "https://www.uniprot.org/uniprot/O75534-4", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MSFDPNLLHNNGHNGYPNGTSAALRETGVIEKLLTSYGFIQCSERQARLFFHCSQYNGNLQDLKVGDDVEFEVSSDRRTGKPIAVKLVKIKQEILPEERMNGQVVCAVPHNLESKSPAAPGQSPTGSVCYERNGEVFYLTYTPEDVEGNVQLETGDKINFVIDNNKHTGAVSARNIMLLKKKQARCQGVVCAMKEAFGFIERGDVVKEIFFHYSEFKGDLETLQPGDDVEFTIKDRNGKEVATDVRLLPQGTVIFEDISIEHFEGTVTKVIPKVPSKNQNDPLPGRIKVDFVIPKELPFGDKDTKSKVTLLEGDHVRFNISTDRRDKLERATNIEVLSNTFQFTNEAREMGVIAAMRDGFGFIKCVDRDVRMFFHFSEILDGNQLHIADEVEFTVVPDMLSAQRNHAIRIKKLPKGTVSFHSHSDHRFLGTVEKEATFSNPKTTSPNKGKEKEAEDGIIAYDDCGVKLTIAFQAKDVEGSTSPQIGDKVEFSISDKQRPGQQVATCVRLLGRNSNSKRLLGYVATLKDNFGFIETANHDKEIFFHYSEFSGDVDSLELGDMVEYSLSKGKGNKVSAEKVNKTHSVNGITEEADPTIYSGKVIRPLRSVDPTQTEYQGMIEIVEEGDMKGEVYPFGIVGMANKGDCLQKGESVKFQLCVLGQNAQTMAYNITPLRRATVECVKDQFGFINYEVGDSKKLFFHVKEVQDGIELQAGDEVEFSVILNQRTGKCSACNVWRVCEGPKAVAAPRPDRLVNRLKNITLDDASAPRLMVLRQPRGPDNSMGFGAERKIRQAGVID", "length": 798, "header": "sp|O75534-1|CSDE1_HUMAN Isoform 1 of Cold shock domain-containing protein E1 OS=Homo sapiens OX=9606 GN=CSDE1 PE=1 SV=2 CANONICAL=O75534-1" }, "isoforms": [ { "isoform_ac": "A0A1Y8EMC9-1", "url": "", "sequence": { "sequence": "MSFDPNL", "length": 7, "header": "tr|A0A1Y8EMC9-1|CSDE1_HUMAN Computationally mapped isoform of Cold shock domain-containing protein E1 OS=Homo sapiens OX=9606 GN=CSDE1 PE=1 SV=1 CANONICAL=O75534-1" }, "locus": { "chromosome": "1", "start_pos": 114739890, "end_pos": 114739870, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000525970.5", "url": "https://www.ensembl.org/id/ENST00000525970.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000432805.1", "url": "https://www.ensembl.org/id/ENSP00000432805.1" } ] } }, { "isoform_ac": "A0A8I5KNL1-1", "url": "", "sequence": { "sequence": "MSFDPNLLHNNGHNGYPNGTSAALRETGVIEKLLTSYGFIQCSERQARLFFHCSQYNGNLQDLKVGDDVEFEVSSDRRTGKPIAVKLVKIKQEILPEERMNGQEVFYLTYTPEDVEGNVQLETGDKINFVIDNNKHTGAVSARNIMLLKKKQARCQGVVCAMKEAFGFIERGDVVKEIFFHYSEFKGDLETLQPGDDVEFTIKDRNGKEVATDVRLLPQGTVIFEDISIEHFEGTVTKVIPKVPSKNQN", "length": 249, "header": "tr|A0A8I5KNL1-1|CSDE1_HUMAN Computationally mapped isoform of Cold shock domain-containing protein E1 OS=Homo sapiens OX=9606 GN=CSDE1 PE=1 SV=1 CANONICAL=O75534-1" }, "locus": { "chromosome": "1", "start_pos": 114739890, "end_pos": 114732866, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000685676.1", "url": "https://www.ensembl.org/id/ENST00000685676.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000508578.1", "url": "https://www.ensembl.org/id/ENSP00000508578.1" } ] } }, { "isoform_ac": "A0A8I5KPC0-1", "url": "", "sequence": { "sequence": "MSFDPNLLHNNGHNGYPNGTSAALRETGVIEKLLTSYGFIQCSERQARLFFHCSQYNGNLQDLKVGDDVEFEVSSDRRTGKPIAVKLVKIKQEILPEERMNGQVVCAVPHNLESKSPAAPGQSPTGSVCYERNGEVFYLTYTPEDVEGNVQLETGDKINFVIDNNKHTGAVSARNIMLLKKKQARCQGVVCAMKEAFGFIERGDVVKEIFFHYSEFKGDLETLQPGDDVEFTIKDRNGKEVATDVRLLPQGTVIFEDISIEHFEGTVTKVIPKVPSKNQNDPLPGRIKVDFVIPKELPFGDKDTKSKVTLLEGDHVRFNISTDRRDKLERATNIEVLSNTFQFTNEAREMEAEDGIIAYDDCGVKLTIAFQAKDVEGSTSPQIGDKVEFSISDKQRPGQQVATCVRLLGRNSNSKRLLGYVATLKDNFGFIETANHDKEIFFHYSEFSGDVDSLELGDMVEYSLSKGKGNKVSAEKVNKTHSVNGITEEADPTIYSGKVIRPLRSVDPTQTEYQGMIEIVEEGDMKGEVYPFGIVGMANKGDCLQKGESVKFQLCVLGQNAQTMAYNITPLRRATVECVKDQFGFINYEVGDSKKLFFHVKEVQDGIELQAGDEVEFSVILNQRTGKCSACNVWRVCEGPKAVAAPRPDRLVNRLKNITLDDASAPRLMVLRQPRGPDNSMGFGAERKIRQAGVID", "length": 696, "header": "tr|A0A8I5KPC0-1|CSDE1_HUMAN Computationally mapped isoform of Cold shock domain-containing protein E1 OS=Homo sapiens OX=9606 GN=CSDE1 PE=1 SV=1 CANONICAL=O75534-1" }, "locus": { "chromosome": "1", "start_pos": 114739890, "end_pos": 114718172, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000691032.1", "url": "https://www.ensembl.org/id/ENST00000691032.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000509119.1", "url": "https://www.ensembl.org/id/ENSP00000509119.1" } ] } }, { "isoform_ac": "A0A8I5KPJ6-1", "url": "", "sequence": { "sequence": "MSFDPNLLHNNGHNGYPNGTSAALRETGVIEKLLTSYGFIQCSERQARLFFHCSQYNGNLQDLKVGDDVEFEVSSDRRTGKPIAVKLVKIKQEILPEERMNGQVVCAVPHNLESKSPAAPGQSPTGSVCYERNGEVFYLTYTPEDVEGNVQLETGDKINFVIDNNKHTGAVSARNIMLLKKKQARCQGVVCAMKEAFGFIERGDVVKEIFFHYSEFKGDLETLQPGDDVEFTIKDRNGKEVATDVRLLPQGTVIFEDISIEHFEGTVTKVIPKVPSKNQNDPLPGRIKVDFVIPKELPFGDKDTKSKVTLLEGDHVRFNISTDRRDKLERATNIEVLSNTFQFTNEAREMDMLSAQRNHAIRIKKLPKGTVSFHSHSDHRFLGTVEKEATFSNPKTTSPNKGKEKEAEDGIIAYDDCGVKLTIAFQAKDVEGSTSPQIGDKVEFSISDKQRPGQQVATCVRLLGRNSNSKRLLGYVATLKDNFGFIETANHDKEIFFHYSEFSGDVDSLELGDMVEYSLSKGKGNKVSAEKVNKTHSVNGITEEADPTIYSGKVIRPLRSVDPTQTEYQGMIEIVEEGDMKGEVYPFGIVGMANKGDCLQKGESVKFQLCVLGQNAQTMAYNITPLRRATVECVKDQFGFINYEVGDSKKLFFHVKEVQDGIELQAGDEVEFSVILNQRTGKCSACNVWRVCEGPKAVAAPRPDRLVNRLKNITLDDASAPRLMVLRQPRGPDNSMGFGAERKIRQAGVID", "length": 751, "header": "tr|A0A8I5KPJ6-1|A0A8I5KPJ6_HUMAN Computationally mapped isoform of Cold shock domain containing E1 OS=Homo sapiens OX=9606 GN=CSDE1 PE=1 SV=1 CANONICAL=O75534-1" }, "locus": { "chromosome": "1", "start_pos": 114739890, "end_pos": 114718172, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000692044.1", "url": "https://www.ensembl.org/id/ENST00000692044.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000508851.1", "url": "https://www.ensembl.org/id/ENSP00000508851.1" } ] } }, { "isoform_ac": "A0A8I5KPQ8-1", "url": "", "sequence": { "sequence": "MSFDPNLLHNNGHNGYPNGTSAALRETGVIEKLLTSYGFIQCSERQARLFFHCSQYNGNLQDLKVGDDVEFEVSSDRRTGKPIAVKLVKIKQEILPEERMNGQVVCAVPHNLESKSPAAPGQSPTGSVCYERNGEVFYLTYTPEDVEGNVQLETGDKINFVIDNNKHTGAVSARNIMLLKKKQARCQGVVCAMKEAFGFIERGDVVKEIFFHYSEFKGDLETLQPGDDVEFTIKDRNGKEVATDVRLLPQGTVIFEDISIEHFEGTVTKVIPKVPSKNQNDPLPGRIKVDFVIPKELPFGDKDTKSKVTLLEGDHVRFNISTDRRDKLERATNIEVLSNTFQFTNEAREMGVIAAMRDGFGFIKCVDRDVRMFFHFSEILDGNQLHIADEVEFTVVPKSCY", "length": 401, "header": "tr|A0A8I5KPQ8-1|CSDE1_HUMAN Computationally mapped isoform of Cold shock domain-containing protein E1 OS=Homo sapiens OX=9606 GN=CSDE1 PE=1 SV=1 CANONICAL=O75534-1" }, "locus": { "chromosome": "1", "start_pos": 114739890, "end_pos": 114730391, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000690013.1", "url": "https://www.ensembl.org/id/ENST00000690013.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000508965.1", "url": "https://www.ensembl.org/id/ENSP00000508965.1" } ] } }, { "isoform_ac": "A0A8I5KS07-1", "url": "", "sequence": { "sequence": "MSFDPNLLHNNGHNGYPNGTSAALRETGVIEKLLTSYGFIQCSERQARLFFHCSQYNGNLQDLKVGDDVEFEVSSDRRTGKPIAVKLVKIKQEILPEERMNGQEVFYLTYTPEDVEGNVQLETGDKINFVIDNNKHTGAVSARNIMLLKKKQARCQGVVCAMKEAFGFIERGDVVKEIFFHYSEFKGDLETLQPGDDVEFTIKDRNGKEVATDVRLLPQGTVIFEDISIEHFEGTVTKVIPKVPSKNQNDPLPGRIKVDFVIPKELPFGDKDTKSKVTLLEGDHVRFNISTDRRDKLERATNIEVLSNTFQFTNEAREMGVIAAMRDGFGFIKCVDRDVRMFFHFSEILDGNQLHIADEVEFTVVPKSCY", "length": 370, "header": "tr|A0A8I5KS07-1|CSDE1_HUMAN Computationally mapped isoform of Cold shock domain-containing protein E1 OS=Homo sapiens OX=9606 GN=CSDE1 PE=1 SV=1 CANONICAL=O75534-1" }, "locus": { "chromosome": "1", "start_pos": 114739890, "end_pos": 114730391, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000692629.1", "url": "https://www.ensembl.org/id/ENST00000692629.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000509565.1", "url": "https://www.ensembl.org/id/ENSP00000509565.1" } ] } }, { "isoform_ac": "A0A8I5KTQ3-1", "url": "", "sequence": { "sequence": "MSFDPNLLHNNGHNGYPNGTSAALRETGVIEKLLTSYGFIQCSERQARLFFHCSQYNGNLQDLKVGDDVEFEVSSDRRTGKPIAVKLVKIKQEILPEERMNGQEVFYLTYTPEDVEGNVQLETGDKINFVIDNNKHTGAVSARNIMLLKKKQARCQGVVCAMKEAFGFIERGDVVKEIFFHYSEFKGDLETLQPGDDVEFTIKDRNGKEVATDVRLLPQGTVIFEDISIEHFEGTVTKVIPKVPSKNQNDPLPGRIKVDFVIPKELPFGDKDTKSKVTLLEGDHVRFNISTDRRDKLERATNIEVLSNTFQFTNEAREMGVIAAMRDGFGFIKCVDRDVRMFFHFSEILDGNQLHIADEVEFTVVPDMLSAQRNHAIRIKKLPKGTVSFHSHSDHRFLGTVEKEATFSNPKTTSPNKGKEKEAEDGIIAYDDCGVKLTIAFQAKDVEGSTSPQIGDKVEFSISDKQRPGQQVATCVRLLGRNSNSKRLLGYVATLKDNFGFIETANHDKEIFFHYSEFSGDVDSLELGDMVEYSLSKGKGNKVSAEKVNKTHSVNGITEEADPTIYSGKVIRPLRSVDPTQTEYQGMIEIVEEGDMKGEVYPFGIVGMANKGDCLQKGESVKFQLCVLGQNAQTMAYNITPLRRATVECVKDQ", "length": 653, "header": "tr|A0A8I5KTQ3-1|CSDE1_HUMAN Computationally mapped isoform of Cold shock domain-containing protein E1 OS=Homo sapiens OX=9606 GN=CSDE1 PE=1 SV=1 CANONICAL=O75534-1" }, "locus": { "chromosome": "1", "start_pos": 114739890, "end_pos": 114720539, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000689727.1", "url": "https://www.ensembl.org/id/ENST00000689727.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000508430.1", "url": "https://www.ensembl.org/id/ENSP00000508430.1" } ] } }, { "isoform_ac": "A0A8I5KV85-1", "url": "", "sequence": { "sequence": "MSFDPNLLHNNGHNGYPNGTSAALRETGVIEKLLTSYGFIQCSERQARLFFHCSQYNGNLQDLKVGDDVEFEVSSDRRTGKPIAVKLVKIKQEILPEERMNGQEVFYLTYTPEDVEGNVQLETGDKINFVIDNNKHTGAVSARNIMLLKKKQARCQGVVCAMKEAFGFIERGDVVKEIFFHYSEFKGDLETLQPGDDVEFTIKDRNGKEVATDVRLLPQGTVIFEDISIEHFEGTVTKVIPKVPSKNQNDPLPGRIKVDFVIPKELPFGDKDTKSKVTLLEGDHVRFNISTDRRDKLERATNIEVLSNTFQFTNEAREMGVIAAMRDGFGFIKCVDRDVRMFFHFSEILDGNQLHIADEDMLSAQRNHAIRIKKLPKGTVSFHSHSDHRFLGTVEKEATFSNPKTTSPNKGKEKEAEDGIIAYDDCGVKLTIAFQAKDVEGSTSPQIGDKVEFSISDKQRPGQQVATCVRLLGRNSNSKRLLGYVATLKDNFGFIETANHDKEIFFHYSEFSGDVDSLELGDMVEYSLSKGKGNKVSAEKVNKTHSVNGITEEADPTIYSGKVIRPLRSVDPTQTEYQGMIEIVEEGDMKGEVYPFGIVGMANKGDCLQKGESVKFQLCVLGQNAQTMAYNITPLRRATVECVKDQFGFINYEVGDSKKLFFHVKEVQDGIELQAGDEVEFSVILNQRTGKCSACNVWRVCEGPKAVAAPRPDRLVNRLKNITLDDASAPRLMVLRQPRGPDNSMGFGAERKIRQAGVID", "length": 760, "header": "tr|A0A8I5KV85-1|CSDE1_HUMAN Computationally mapped isoform of Cold shock domain-containing protein E1 OS=Homo sapiens OX=9606 GN=CSDE1 PE=1 SV=1 CANONICAL=O75534-1" }, "locus": { "chromosome": "1", "start_pos": 114739890, "end_pos": 114718172, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000689885.1", "url": "https://www.ensembl.org/id/ENST00000689885.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000509282.1", "url": "https://www.ensembl.org/id/ENSP00000509282.1" } ] } }, { "isoform_ac": "A0A8I5KW29-1", "url": "", "sequence": { "sequence": "MSFDPNLLHNNGHNGYPNGTSAALRETGVIEKLLTSYGFIQCSERQARLFFHCSQYNGNLQDLKVGDDVEFEVSSDRRTGKPIAVKLVKIKQEILPEERMNGQVVCAVPHNLESKSPAAPGQSPTGSVCYERNGEVFYLTYTPEDVEGNVQLETGDKINFVIDNNKHTGAVSARNIMLLKKKQARCQGVVCAMKEAFGFIERGDVVKEIFFHYSEFKGDLETLQPGDDVEFTIKDRNGKEVATDVRLLPQGTVIFEDISIEHFEGTVTKVIPKVPSKNQNDPLPGRIKVDFVIPKELPFGDKDTKSKVTLLEGDHVRFNISTDRRDKLERATNIEVLSNTFQFTNEAREM", "length": 350, "header": "tr|A0A8I5KW29-1|CSDE1_HUMAN Computationally mapped isoform of Cold shock domain-containing protein E1 OS=Homo sapiens OX=9606 GN=CSDE1 PE=1 SV=1 CANONICAL=O75534-1" }, "locus": { "chromosome": "1", "start_pos": 114739890, "end_pos": 114732604, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000690420.1", "url": "https://www.ensembl.org/id/ENST00000690420.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000509966.1", "url": "https://www.ensembl.org/id/ENSP00000509966.1" } ] } }, { "isoform_ac": "A0A8I5KW72-1", "url": "", "sequence": { "sequence": "MSFDPNLLHNNGHNGYPNGTSAALRETGVIEKLLTSYGFIQCSERQARLFFHCSQYNGNLQDLKVGDDVEFEVSSDRRTGKPIAVKLVKIKQEILPEERMNGQEVFYLTYTPEDVEGNVQLETGDKINFVIDNNKHTGAVSARNIMLLKKKQARCQGVVCAMKEAFGFIERGDVVKEIFFHYSEFKGDLETLQPGDDVEFTIKDRNGKEVATDVRLLPQGTVIFEDISIEHFEGTVTKVIPKVPSKNQNDPLPGRIKVDFVIPKELPFGDKDTKSKVTLLEGDHVRFNISTDRRDKLERATNIEVLSNTFQFTNEAREMGVIAAMRDGFGFIKCVDRDVRMFFHFSEILDGNQLHIADEVEFTVVPDMLSAQRNHAIRIKKLPKGTVSFHSHSDHRFLGTVEKEATFSNPKTTSPNKGKEKEAEDGIIAYDDCGVKLTIAFQAKDVEGSTSPQIGDKVEFSISDKQRPGQQVATCVRLLGRNSNSKRLLGYVATLKDNFGFIETANHDKEIFFHYSEFSGDVDSLELGDMVEYSLSKGKGNKVSAEKVNKTHSETRKGFLKNDIWSPGKMNGITEEADPTIYSGKVIRPLRSVDPTQTEYQGMIEIVEEGDMKGEVYPFGIVGMANKGDCLQKGESVKFQLCVLGQNAQTMAYNITPLRRATVECVKDQFGFINYEVGDSKKLFFHVKEVQDGIELQAGDEVEFSVILNQRTGKCSACNVWRVCEGPKAVAAPRPDRLVNRLKNITLDDASAPRLMVLRQPRGPDNSMGFGAERKIRQAGVID", "length": 783, "header": "tr|A0A8I5KW72-1|CSDE1_HUMAN Computationally mapped isoform of Cold shock domain-containing protein E1 OS=Homo sapiens OX=9606 GN=CSDE1 PE=1 SV=1 CANONICAL=O75534-1" }, "locus": { "chromosome": "1", "start_pos": 114739890, "end_pos": 114718172, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000690207.1", "url": "https://www.ensembl.org/id/ENST00000690207.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000510521.1", "url": "https://www.ensembl.org/id/ENSP00000510521.1" } ] } }, { "isoform_ac": "A0A8I5KWW0-1", "url": "", "sequence": { "sequence": "MSFDPNLLHNNGHNGYPNGTSAALRETGVIEKLLTSYGFIQCSERQARLFFHCSQYNGNLQDLKVGDDVEFEVSSDRRTGKPIAVKLVKIKQEILPEERMNGQEVFYLTYTPEDVEGNVQLETGDKINFVIDNNKHTGAVSARNIMLLKKKQARCQGVVCAMKEAFGFIERGDVVKEIFFHYSEFKGDLETLQPGDDVEFTIKDRNGKEVATDVRLLPQGTVIFEDISIEHFEGTVTKVIPKVPSKNQNDPLPGRIKVDFVIPKELPFGDKDTKSKVTLLEGDHVRFNISTDRRDKLERATNIEVLSNTFQFTNEAREMGVIAAMRDGFGFIKCVDRDVRMFFHFSEILDGNQLHIADEVEFTVVPDMLSAQRNHAIRIKKLPKGTVSFHSHSDHRFLGTVEKEATFSNPKTTSPNKGKEKEAEDGIIAYDDCGVKLTIAFQAKDVEGSTSPQIGDK", "length": 457, "header": "tr|A0A8I5KWW0-1|CSDE1_HUMAN Computationally mapped isoform of Cold shock domain-containing protein E1 OS=Homo sapiens OX=9606 GN=CSDE1 PE=1 SV=1 CANONICAL=O75534-1" }, "locus": { "chromosome": "1", "start_pos": 114739890, "end_pos": 114726983, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000688611.1", "url": "https://www.ensembl.org/id/ENST00000688611.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000509826.1", "url": "https://www.ensembl.org/id/ENSP00000509826.1" } ] } }, { "isoform_ac": "A0A8I5KXH5-1", "url": "", "sequence": { "sequence": "MSFDPNLLHNNGHNGYPNGTSAALRETGVIEKLLTSYGFIQCSERQARLFFHCSQYNGNLQDLKVGDDVEFEVSSDRRTGKPIAVKLVKIKQEILPEERMNGQEVFYLTYTPEDVEGNVQLETGDKINFVIDNNKHTGAVSARNIMLLKKKQARCQGVVCAMKEAFGFIERGDVVKEIFFHYSEFKGDLETLQPGDDVEFTIKDRNGKEVATDVRLLPQGTVIFEDISIEHFEGTVTKVIPKVPSKNQNDPLPGRIKVDFVIPKELPFGDKDTKSKVTLLEGDHVRFNISTDRRDKLERATNIEVLSNTFQFTNEAREMDMLSAQRNHAIRIKKLPKGTVSFHSHSDHRFLGTVEKEATFSNPKTTSPNKGKEKEAEDGIIAYDDCGVKLTIAFQAKDVEGSTSPQIGDKVEFSISDKQRPGQQVATCVRLLGRNSNSKRLLGYVATLKDNFGFIETANHDKEIFFHYSEFSGDVDSLELGDMVEYSLSKGKGNKVSAEKVNKTHSVNGITEEADPTIYSGKVIRPLRSVDPTQTEYQGMIEIVEEGDMKGEVYPFGIVGMANKGDCLQKGESVKFQLCVLGQNAQTMAYNITPLRRATVECVKDQFGFINYEVGDSKKLFFHVKEVQDGIELQAGDEVEFSVILNQRTGKCSACNVWRVCEGPKAVAAPRPDRLVNRLKNITLDDASAPRLMVLRQPRGPDNSMGFGAERKIRQAGVID", "length": 720, "header": "tr|A0A8I5KXH5-1|CSDE1_HUMAN Computationally mapped isoform of Cold shock domain-containing protein E1 OS=Homo sapiens OX=9606 GN=CSDE1 PE=1 SV=1 CANONICAL=O75534-1" }, "locus": { "chromosome": "1", "start_pos": 114739890, "end_pos": 114718172, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000686781.1", "url": "https://www.ensembl.org/id/ENST00000686781.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000508872.1", "url": "https://www.ensembl.org/id/ENSP00000508872.1" } ] } }, { "isoform_ac": "A0A8I5KXL1-1", "url": "", "sequence": { "sequence": "MSFDPNLLHNNGHNGYPNGTSAALRETGVIEKLLTSYGFIQCSERQARLFFHCSQYNGNLQDLKVGDDVEFEVSSDRRTGKPIAVKLVKIKQEILPEERMNGQEVFYLTYTPEDVEGNVQLETGDKINFVIDNNKHTGAVSARNIMLLKKKQARCQGVVCAMKEAFGFIERGDVVKEIFFHYSEFKGDLETLQPGDDVEFTIKDRNGKEVATDVRLLPQGTVIFEDISIEHFEGTVTKVIPKVPSKNQNDPLPGRIKVDFVIPKELPFGDKDTKSKVTLLEGDHVRFNISTDRRDKLERATNIEVLSNTFQFTNEAREMGVIAAMRDGFGFIKCVDRDVRMFFHFSEILDGNQLHIADEVEFTVVPDMLSAQRNHAIRIKKLPKGTVSFHSHSDHRFLGTVEKEATFSNPKTTSPNKGKEKEAEDGIIAYDDCGVKLTIAFQAKDVEGSTSPQIGDKVEFSISDKQRPGQQVATCVRLLGRNSNSKRLLGYVATLKDNFGFIETANHDKEIFFHYSEFSGDVDSLELGDMVEYSLSKGKGNKVSAEKVNKTHSVNGITEEADPTIYSGKVIRPLRSVDPTQTEYQGMIEIVEEGPQWNV", "length": 599, "header": "tr|A0A8I5KXL1-1|A0A8I5KXL1_HUMAN Computationally mapped isoform of Cold shock domain containing E1 OS=Homo sapiens OX=9606 GN=CSDE1 PE=1 SV=1 CANONICAL=O75534-1" }, "locus": { "chromosome": "1", "start_pos": 114739890, "end_pos": 114720550, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000689510.1", "url": "https://www.ensembl.org/id/ENST00000689510.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000510442.1", "url": "https://www.ensembl.org/id/ENSP00000510442.1" } ] } }, { "isoform_ac": "A0A8I5KYL4-1", "url": "", "sequence": { "sequence": "MSFDPNLLHNNGHNGYPNGTSAALRETGVIEKLLTSYGFIQCSERQARLFFHCSQYNGNLQDLKVGDDVEFEVSSDRRTGKPIAVKLVKIKQEILPEERMNGQVVCAVPHNLESKSPAAPGQSPTGSVCYERNGEVFYLTYTPEDVEGNVQLETGDKINFVIDNNKHTGAVSARNIMLLKKKQARCQGVVCAMKEAFGFIERGDVVKEIFFHYSEFKGDLETLQPGDDVEFTIKDRNGKEVATDVRLLPQGTVIFEDISIEHFEGTVTKVIPKVPSKNQN", "length": 280, "header": "tr|A0A8I5KYL4-1|CSDE1_HUMAN Computationally mapped isoform of Cold shock domain-containing protein E1 OS=Homo sapiens OX=9606 GN=CSDE1 PE=1 SV=1 CANONICAL=O75534-1" }, "locus": { "chromosome": "1", "start_pos": 114739890, "end_pos": 114732866, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000691403.1", "url": "https://www.ensembl.org/id/ENST00000691403.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000509918.1", "url": "https://www.ensembl.org/id/ENSP00000509918.1" } ] } }, { "isoform_ac": "A0A8I5KYL8-1", "url": "", "sequence": { "sequence": "MSFDPNLLHNNGHNGYPNGTSAALRETGVIEKLLTSYGFIQCSERQARLFFHCSQYNGNLQDLKVGDDVEFEVSSDRRTGKPIAVKLVKIKQEILPEERMNGQEVFYLTYTPEDVEGNVQLETGDKINFVIDNNKHTGAVSARNIMLLKKKQARCQGVVCAMKEAFGFIERGDVVKEIFFHYSEFKGDLETLQPGDDVEFTIKDRNGKEVATDVRLLPQGTVIFEDISIEHFEGTVTKVIPKVPSKNQNDPLPGRIKVDFVIPKELPFGDKDTKSKVTLLEGDHVRFNISTDRRDKLERATNIEVLSNTFQFTNEAREMGVIAAMRDGFGFIKCVDRDVRMFFHFSEILDGNQLHIADEVEFTVVPDMLSAQRNHAIRIKKLPKGTVSFHSHSDHRFLGTVEKEATFSNPKTTSPNKGKEKEAEDGIIAYDDCGVKLTIAFQAKDVEGSTSPQIGDKVEFSISDKQRPGQQVATCVRLLGRNSNSKRLLGYVATLKDNFGFIETANHDKEIFFHYSEFSGDVDSLELGDMVEYSLSKGKGNKVSAEKVNKTHSVNGITEEADPTIYSGKVIRPLRSVDPTQTEYQGMIEIVEEDFVPVLQAI", "length": 602, "header": "tr|A0A8I5KYL8-1|A0A8I5KYL8_HUMAN Computationally mapped isoform of Cold shock domain containing E1 OS=Homo sapiens OX=9606 GN=CSDE1 PE=1 SV=1 CANONICAL=O75534-1" }, "locus": { "chromosome": "1", "start_pos": 114739890, "end_pos": 114720712, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000693311.1", "url": "https://www.ensembl.org/id/ENST00000693311.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000510064.1", "url": "https://www.ensembl.org/id/ENSP00000510064.1" } ] } }, { "isoform_ac": "A0A8I5KYY8-1", "url": "", "sequence": { "sequence": "MSFDPNLLHNNGHNGYPNGTSAALRETGVIEKLLTSYGFIQCSERQARLFFHCSQYNGNLQDLKVGE", "length": 67, "header": "tr|A0A8I5KYY8-1|CSDE1_HUMAN Computationally mapped isoform of Cold shock domain-containing protein E1 OS=Homo sapiens OX=9606 GN=CSDE1 PE=1 SV=1 CANONICAL=O75534-1" }, "locus": { "chromosome": "1", "start_pos": 114739890, "end_pos": 114732815, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000691377.1", "url": "https://www.ensembl.org/id/ENST00000691377.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000510298.1", "url": "https://www.ensembl.org/id/ENSP00000510298.1" } ] } }, { "isoform_ac": "A0A8I5QJA6-1", "url": "", "sequence": { "sequence": "MSFDPNLLHNNGHNGYPNGTSAALRETGVIEKLLTSYGFIQCSERQARLFFHCSQYNGNLQDLKVGDDVEFEVSSDRRTGKPIAVKLVKIKQEILPEERMNGQEVFYLTYTPEDVEGNVQLETGDKINFVIDNNKHTGAVSARNIMLLKKKQARCQGVVCAMKEAFGFIERGDVVKEIFFHYSEFKGDLETLQPGDDVEFTIKDRNGKEVATDVRLLPQGTVIFEDISIEHFEGTVTKVIPKVPSKNQNDPLPGRIKVDFVIPKELPFGDKDTKSKVTLLEGDHVRFNISTDRRDKLERATNIEVLSNTFQFTNEAREMEAEDGIIAYDDCGVKLTIAFQAKDVEGSTSPQIGDKVEFSISDKQRPGQQVATCVRLLGRNSNSKRLLGYVATLKDNFGFIETANHDKEIFFHYSEFSGDVDSLELGDMVEYSLSKGKGNKVSAEKVNKTHSVNGITEEADPTIYSGKVIRPLRSVDPTQTEYQGMIEIVEEGDMKGEVYPFGIVGMANKGDCLQKGESVKFQLCVLGQNAQTMAYNITPLRRATVECVKDQFGFINYEVGDSKKLFFHVKEVQDGIELQAGDEVEFSVILNQRTGKCSACNVWRVCEGPKAVAAPRPDRLVNRLKNITLDDASAPRLMVLRQPRGPDNSMGFGAERKIRQAGVID", "length": 665, "header": "tr|A0A8I5QJA6-1|A0A8I5QJA6_HUMAN Computationally mapped isoform of Cold shock domain containing E1 OS=Homo sapiens OX=9606 GN=CSDE1 PE=1 SV=1 CANONICAL=O75534-1" }, "locus": { "chromosome": "1", "start_pos": 114739890, "end_pos": 114718172, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000686667.1", "url": "https://www.ensembl.org/id/ENST00000686667.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000508885.1", "url": "https://www.ensembl.org/id/ENSP00000508885.1" } ] } }, { "isoform_ac": "A0A8I5QKX0-1", "url": "", "sequence": { "sequence": "MENVFTVSSDPHPSPAAPPSLSLPLSSSSTSSGTKKQKRTPTYQRSMSFDPNLLHNNGHNGYPNGTSAALRETGVIEKLLTSYGFIQCSERQARLFFHCSQYNGNLQDLKVGDDVEFEVSSDRRTGKPIAVKLVKIKQEILPEERMNGQEVFYLTYTPEDVEGNVQLETGDKINFVIDNNKHTGAVSARNIMLLKKKQARCQGVVCAMKEAFGFIERGDVVKEIFFHYSEFKGDLETLQPGDDVEFTIKDRNGKEVATDVRLLPQGTVIFEDISIEHFEGTVTKVIPKVPSKNQNDPLPGRIKVDFVIPKELPFGDKDTKSKVTLLEGDHVRFNISTDRRDKLERATNIEVLSNTFQFTNEAREMDMLSAQRNHAIRIKKLPKGTVSFHSHSDHRFLGTVEKEATFSNPKTTSPNKGKEKEAEDGIIAYDDCGVKLTIAFQAKDVEGSTSPQIGDKVEFSISDKQRPGQQVATCVRLLGRNSNSKRLLGYVATLKDNFGFIETANHDKEIFFHYSEFSGDVDSLELGDMVEYSLSKGKGNKVSAEKVNKTHSVNGITEEADPTIYSGKVIRPLRSVDPTQTEYQGMIEIVEEGDMKGEVYPFGIVGMANKGDCLQKGESVKFQLCVLGQNAQTMAYNITPLRRATVECVKDQFGFINYEVGDSKKLFFHVKEVQDGIELQAGDEVEFSVILNQRTGKCSACNVWRVCEGPKAVAAPRPDRLVNRLKNITLDDASAPRLMVLRQPRGPDNSMGFGAERKIRQAGVID", "length": 766, "header": "tr|A0A8I5QKX0-1|A0A8I5QKX0_HUMAN Computationally mapped isoform of Cold shock domain containing E1 OS=Homo sapiens OX=9606 GN=CSDE1 PE=1 SV=1 CANONICAL=O75534-1" }, "locus": { "chromosome": "1", "start_pos": 114741664, "end_pos": 114718172, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000692672.1", "url": "https://www.ensembl.org/id/ENST00000692672.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000509882.1", "url": "https://www.ensembl.org/id/ENSP00000509882.1" } ] } }, { "isoform_ac": "E9PJK7-1", "url": "", "sequence": { "sequence": "MNGQEVFYLTYTPEDVEGNVQLETGDKINFVIDNNK", "length": 36, "header": "tr|E9PJK7-1|E9PJK7_HUMAN Computationally mapped isoform of Cold shock domain containing E1 OS=Homo sapiens OX=9606 GN=CSDE1 PE=1 SV=1 CANONICAL=O75534-1" }, "locus": { "chromosome": "1", "start_pos": 114737974, "end_pos": 114736760, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000525132.1", "url": "https://www.ensembl.org/id/ENST00000525132.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000431770.1", "url": "https://www.ensembl.org/id/ENSP00000431770.1" } ] } }, { "isoform_ac": "E9PKN4-1", "url": "", "sequence": { "sequence": "MSFDPNLLHNNGHNGYPNGTSAALRETGVIEKLLTSYGFIQCSERQ", "length": 46, "header": "tr|E9PKN4-1|CSDE1_HUMAN Computationally mapped isoform of Cold shock domain-containing protein E1 OS=Homo sapiens OX=9606 GN=CSDE1 PE=1 SV=1 CANONICAL=O75534-1" }, "locus": { "chromosome": "1", "start_pos": 114739890, "end_pos": 114739753, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000525878.5", "url": "https://www.ensembl.org/id/ENST00000525878.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000431562.1", "url": "https://www.ensembl.org/id/ENSP00000431562.1" } ] } }, { "isoform_ac": "E9PLD4-1", "url": "", "sequence": { "sequence": "MSFDPNLLHNNGHNGYPNGTSAALRETGVIEKLLTSYGFIQCSERQARLFFHCSQYNGNLQDLKVGDDVEFEVSSDRRTGKPIAVKLVKIKQEI", "length": 94, "header": "tr|E9PLD4-1|CSDE1_HUMAN Computationally mapped isoform of Cold shock domain-containing protein E1 OS=Homo sapiens OX=9606 GN=CSDE1 PE=1 SV=8 CANONICAL=O75534-1" }, "locus": { "chromosome": "1", "start_pos": 114739890, "end_pos": 114737990, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000534389.2", "url": "https://www.ensembl.org/id/ENST00000534389.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000435185.1", "url": "https://www.ensembl.org/id/ENSP00000435185.1" } ] } }, { "isoform_ac": "E9PLT0-1", "url": "", "sequence": { "sequence": "MNGQEVFYLTYTPEDVEGNVQLETGDKINFVIDNNKHTGAVSARNIMLLKKKQARCQGVVCAMKEAFGFIERGDVVKEIFFHYSEFKGDLETLQPGDDVEFTIKDRNGKEVATDVRLLPQGTVIFEDISIEHFEGTVTKVIPKVPSKNQNDPLPGRIKVDFVIPKELPFGDKDTKSKVTLLEGDHVRFNISTDRRDKLERATNIEVLSNTFQFTNEAREMGVIAAMRDGFGFIKCVDRDVRMFFHFSEILDGNQLHIADEVEFTVVPDMLSAQRNHAIRIKKLPKGTVSFHSHSDHRFLGTVEKEATFSNPKTTSPNKGKEKEAEDGIIAYDDCGVKLTIAFQAKDVEGSTSPQIGDKVEFSISDKQRPGQQVATCVRLLGRNSNSKRLLGYVATLKDNFGFIETANHDKEIFFHYSEFSGDVDSLELGDMVEYSLSKGKGNKVSAEKVNKTHSVNGITEEADPTIYSGKVIRPLRSVDPTQTEYQGMIEIVEEGDMKGEVYPFGIVGMANKGDCLQKGESVKFQLCVLGQNAQTMAYNITPLRRATVECVKDQFGFINYEVGDSKKLFFHVKEVQDGIELQAGDEVEFSVILNQRTGKCSACNVWRVCEGPKAVAAPRPDRLVNRLKNITLDDASAPRLMVLRQPRGPDNSMGFGAERKIRQAGVID", "length": 668, "header": "tr|E9PLT0-1|E9PLT0_HUMAN Computationally mapped isoform of Cold shock domain containing E1 OS=Homo sapiens OX=9606 GN=CSDE1 PE=1 SV=1 CANONICAL=O75534-1" }, "locus": { "chromosome": "1", "start_pos": 114737974, "end_pos": 114718172, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000530886.5", "url": "https://www.ensembl.org/id/ENST00000530886.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000431297.1", "url": "https://www.ensembl.org/id/ENSP00000431297.1" } ] } }, { "isoform_ac": "E9PNG3-1", "url": "", "sequence": { "sequence": "MNGQEVFYLTYTPEDVEGNVQLETGDKINFVIDNNKHTGAVSARNIMLLKKKQARCQGVVCAMKEAFGFIERGDVVKEIFFHYSEFKGDLETLQPGDDVEFTIKDRNGKEVATDVRLLPQGTVIFEDISIEHFEGTVTKVIPKVPSKNQNDPLPGRIKVDFVIPKELPFGDKDTKSKVTLLEGDHVRFNISTDRRDKLERATNIEVLSNTFQFTNEAREMDMLSAQRNHAIRIKKLPKGTVSFHSHSDHRFLGTVEKEATFSNPKTTSPNKGKEKEAEDGIIAYDDCGVKLTIAFQAKDVEGSTSPQIGDKVEFSISDKQRPGQQVATCVRLLGRNSNSKRLLGYVATLKDNFGFIETANHDKEIFFHYSEFSGDVDSLELGDMVEYSLSKGKGNKVSAEKVNKTHSVNGITEEADPTIYSGKVIRPLRSVDPTQTEYQGMIEIVEEGDMKGEVYPFGIVGMANKGDCLQKGESVKFQLCVLGQNAQTMAYNITPLRRATVECVKDQFGFINYEVGDSKKLFFHVKEVQDGIELQAGDEVEFSVILNQRTGKCSACNVWRVCEGPKAVAAPRPDRLVNRLKNITLDDASAPRLMVLRQPRGPDNSMGFGAERKIRQAGVID", "length": 621, "header": "tr|E9PNG3-1|CSDE1_HUMAN Computationally mapped isoform of Cold shock domain-containing protein E1 OS=Homo sapiens OX=9606 GN=CSDE1 PE=1 SV=9 CANONICAL=O75534-1" }, "locus": { "chromosome": "1", "start_pos": 114737974, "end_pos": 114718172, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000529046.6", "url": "https://www.ensembl.org/id/ENST00000529046.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000437159.2", "url": "https://www.ensembl.org/id/ENSP00000437159.2" } ] } }, { "isoform_ac": "O75534-1", "url": "", "sequence": { "sequence": "MSFDPNLLHNNGHNGYPNGTSAALRETGVIEKLLTSYGFIQCSERQARLFFHCSQYNGNLQDLKVGDDVEFEVSSDRRTGKPIAVKLVKIKQEILPEERMNGQVVCAVPHNLESKSPAAPGQSPTGSVCYERNGEVFYLTYTPEDVEGNVQLETGDKINFVIDNNKHTGAVSARNIMLLKKKQARCQGVVCAMKEAFGFIERGDVVKEIFFHYSEFKGDLETLQPGDDVEFTIKDRNGKEVATDVRLLPQGTVIFEDISIEHFEGTVTKVIPKVPSKNQNDPLPGRIKVDFVIPKELPFGDKDTKSKVTLLEGDHVRFNISTDRRDKLERATNIEVLSNTFQFTNEAREMGVIAAMRDGFGFIKCVDRDVRMFFHFSEILDGNQLHIADEVEFTVVPDMLSAQRNHAIRIKKLPKGTVSFHSHSDHRFLGTVEKEATFSNPKTTSPNKGKEKEAEDGIIAYDDCGVKLTIAFQAKDVEGSTSPQIGDKVEFSISDKQRPGQQVATCVRLLGRNSNSKRLLGYVATLKDNFGFIETANHDKEIFFHYSEFSGDVDSLELGDMVEYSLSKGKGNKVSAEKVNKTHSVNGITEEADPTIYSGKVIRPLRSVDPTQTEYQGMIEIVEEGDMKGEVYPFGIVGMANKGDCLQKGESVKFQLCVLGQNAQTMAYNITPLRRATVECVKDQFGFINYEVGDSKKLFFHVKEVQDGIELQAGDEVEFSVILNQRTGKCSACNVWRVCEGPKAVAAPRPDRLVNRLKNITLDDASAPRLMVLRQPRGPDNSMGFGAERKIRQAGVID", "length": 798, "header": "sp|O75534-1|CSDE1_HUMAN Isoform 1 of Cold shock domain-containing protein E1 OS=Homo sapiens OX=9606 GN=CSDE1 PE=1 SV=2 CANONICAL=O75534-1" }, "locus": { "chromosome": "1", "start_pos": 114739890, "end_pos": 114718172, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000689217.1", "url": "https://www.ensembl.org/id/ENST00000689217.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000508874.1", "url": "https://www.ensembl.org/id/ENSP00000508874.1" } ] } }, { "isoform_ac": "O75534-2", "url": "", "sequence": { "sequence": "MSFDPNLLHNNGHNGYPNGTSAALRETGVIEKLLTSYGFIQCSERQARLFFHCSQYNGNLQDLKVGDDVEFEVSSDRRTGKPIAVKLVKIKQEILPEERMNGQEVFYLTYTPEDVEGNVQLETGDKINFVIDNNKHTGAVSARNIMLLKKKQARCQGVVCAMKEAFGFIERGDVVKEIFFHYSEFKGDLETLQPGDDVEFTIKDRNGKEVATDVRLLPQGTVIFEDISIEHFEGTVTKVIPKVPSKNQNDPLPGRIKVDFVIPKELPFGDKDTKSKVTLLEGDHVRFNISTDRRDKLERATNIEVLSNTFQFTNEAREMGVIAAMRDGFGFIKCVDRDVRMFFHFSEILDGNQLHIADEVEFTVVPDMLSAQRNHAIRIKKLPKGTVSFHSHSDHRFLGTVEKEATFSNPKTTSPNKGKEKEAEDGIIAYDDCGVKLTIAFQAKDVEGSTSPQIGDKVEFSISDKQRPGQQVATCVRLLGRNSNSKRLLGYVATLKDNFGFIETANHDKEIFFHYSEFSGDVDSLELGDMVEYSLSKGKGNKVSAEKVNKTHSVNGITEEADPTIYSGKVIRPLRSVDPTQTEYQGMIEIVEEGDMKGEVYPFGIVGMANKGDCLQKGESVKFQLCVLGQNAQTMAYNITPLRRATVECVKDQFGFINYEVGDSKKLFFHVKEVQDGIELQAGDEVEFSVILNQRTGKCSACNVWRVCEGPKAVAAPRPDRLVNRLKNITLDDASAPRLMVLRQPRGPDNSMGFGAERKIRQAGVID", "length": 767, "header": "sp|O75534-2|CSDE1_HUMAN Isoform 2 of Cold shock domain-containing protein E1 OS=Homo sapiens OX=9606 GN=CSDE1 PE=1 SV=2 CANONICAL=O75534-1" }, "locus": { "chromosome": "1", "start_pos": 114739890, "end_pos": 114718172, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000693467.1", "url": "https://www.ensembl.org/id/ENST00000693467.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000510042.1", "url": "https://www.ensembl.org/id/ENSP00000510042.1" } ] } }, { "isoform_ac": "O75534-3", "url": "", "sequence": { "sequence": "MENVFTVSSDPHPSPAAPPSLSLPLSSSSTSSGTKKQKRTPTYQRSMSFDPNLLHNNGHNGYPNGTSAALRETGVIEKLLTSYGFIQCSERQARLFFHCSQYNGNLQDLKVGDDVEFEVSSDRRTGKPIAVKLVKIKQEILPEERMNGQEVFYLTYTPEDVEGNVQLETGDKINFVIDNNKHTGAVSARNIMLLKKKQARCQGVVCAMKEAFGFIERGDVVKEIFFHYSEFKGDLETLQPGDDVEFTIKDRNGKEVATDVRLLPQGTVIFEDISIEHFEGTVTKVIPKVPSKNQNDPLPGRIKVDFVIPKELPFGDKDTKSKVTLLEGDHVRFNISTDRRDKLERATNIEVLSNTFQFTNEAREMGVIAAMRDGFGFIKCVDRDVRMFFHFSEILDGNQLHIADEVEFTVVPDMLSAQRNHAIRIKKLPKGTVSFHSHSDHRFLGTVEKEATFSNPKTTSPNKGKEKEAEDGIIAYDDCGVKLTIAFQAKDVEGSTSPQIGDKVEFSISDKQRPGQQVATCVRLLGRNSNSKRLLGYVATLKDNFGFIETANHDKEIFFHYSEFSGDVDSLELGDMVEYSLSKGKGNKVSAEKVNKTHSVNGITEEADPTIYSGKVIRPLRSVDPTQTEYQGMIEIVEEGDMKGEVYPFGIVGMANKGDCLQKGESVKFQLCVLGQNAQTMAYNITPLRRATVECVKDQFGFINYEVGDSKKLFFHVKEVQDGIELQAGDEVEFSVILNQRTGKCSACNVWRVCEGPKAVAAPRPDRLVNRLKNITLDDASAPRLMVLRQPRGPDNSMGFGAERKIRQAGVID", "length": 813, "header": "sp|O75534-3|CSDE1_HUMAN Isoform 3 of Cold shock domain-containing protein E1 OS=Homo sapiens OX=9606 GN=CSDE1 PE=1 SV=2 CANONICAL=O75534-1" }, "locus": { "chromosome": "1", "start_pos": 114741664, "end_pos": 114718172, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000369530.5", "url": "https://www.ensembl.org/id/ENST00000369530.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000358543.1", "url": "https://www.ensembl.org/id/ENSP00000358543.1" } ] } }, { "isoform_ac": "O75534-4", "url": "", "sequence": { "sequence": "MENVFTVSSDPHPSPAAPPSLSLPLSSSSTSSGTKKQKRTPTYQRSMSFDPNLLHNNGHNGYPNGTSAALRETGVIEKLLTSYGFIQCSERQARLFFHCSQYNGNLQDLKVGDDVEFEVSSDRRTGKPIAVKLVKIKQEILPEERMNGQVVCAVPHNLESKSPAAPGQSPTGSVCYERNGEVFYLTYTPEDVEGNVQLETGDKINFVIDNNKHTGAVSARNIMLLKKKQARCQGVVCAMKEAFGFIERGDVVKEIFFHYSEFKGDLETLQPGDDVEFTIKDRNGKEVATDVRLLPQGTVIFEDISIEHFEGTVTKVIPKVPSKNQNDPLPGRIKVDFVIPKELPFGDKDTKSKVTLLEGDHVRFNISTDRRDKLERATNIEVLSNTFQFTNEAREMGVIAAMRDGFGFIKCVDRDVRMFFHFSEILDGNQLHIADEVEFTVVPDMLSAQRNHAIRIKKLPKGTVSFHSHSDHRFLGTVEKEATFSNPKTTSPNKGKEKEAEDGIIAYDDCGVKLTIAFQAKDVEGSTSPQIGDKVEFSISDKQRPGQQVATCVRLLGRNSNSKRLLGYVATLKDNFGFIETANHDKEIFFHYSEFSGDVDSLELGDMVEYSLSKGKGNKVSAEKVNKTHSVNGITEEADPTIYSGKVIRPLRSVDPTQTEYQGMIEIVEEGDMKGEVYPFGIVGMANKGDCLQKGESVKFQLCVLGQNAQTMAYNITPLRRATVECVKDQFGFINYEVGDSKKLFFHVKEVQDGIELQAGDEVEFSVILNQRTGKCSACNVWRVCEGPKAVAAPRPDRLVNRLKNITLDDASAPRLMVLRQPRGPDNSMGFGAERKIRQAGVID", "length": 844, "header": "sp|O75534-4|CSDE1_HUMAN Isoform 4 of Cold shock domain-containing protein E1 OS=Homo sapiens OX=9606 GN=CSDE1 PE=1 SV=2 CANONICAL=O75534-1" }, "locus": { "chromosome": "1", "start_pos": 114741664, "end_pos": 114718172, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000610726.5", "url": "https://www.ensembl.org/id/ENST00000610726.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000481762.1", "url": "https://www.ensembl.org/id/ENSP00000481762.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 27, "start_aa": "Thr", "end_pos": 27, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr27", "evidence": [ { "id": "O75534", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75534" }, { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "35138101", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35138101" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" }, { "id": "34229054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34229054" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "30620550", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30620550" }, { "id": "32119511", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32119511" }, { "id": "20305658", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/20305658" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" }, { "id": "33465208", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33465208" }, { "id": "O75534", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O75534" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 505, "start_aa": "Thr", "end_pos": 505, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr505", "evidence": [ { "id": "O75534", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75534" }, { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "35138101", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35138101" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" }, { "id": "34229054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34229054" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "30620550", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30620550" }, { "id": "32119511", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32119511" }, { "id": "20305658", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/20305658" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" }, { "id": "33465208", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33465208" }, { "id": "O75534", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O75534" } ] } ], "phosphorylation": [ { "start_pos": 116, "end_pos": 116, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O75534", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75534" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "19664994", "url": "https://glygen.org/publication/PubMed/19664994" }, { "database": "phospho.ELM", "id": "O75534", "url": "http://phospho.elm.eu.org/byAccession/O75534.html" } ], "site_lbl": "Ser116" }, { "start_pos": 123, "end_pos": 123, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O75534", "url": "https://www.uniprot.org/uniprot/O75534" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O75534", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75534" }, { "database": "phospho.ELM", "id": "O75534", "url": "http://phospho.elm.eu.org/byAccession/O75534.html" } ], "site_lbl": "Ser123" }, { "start_pos": 168, "end_pos": 168, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O75534", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75534" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr168" }, { "start_pos": 276, "end_pos": 276, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O75534", "url": "https://www.uniprot.org/uniprot/O75534" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O75534", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75534" } ], "site_lbl": "Ser276" }, { "start_pos": 444, "end_pos": 444, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O75534", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75534" }, { "database": "PubMed", "id": "17287340", "url": "https://glygen.org/publication/PubMed/17287340" }, { "database": "phospho.ELM", "id": "O75534", "url": "http://phospho.elm.eu.org/byAccession/O75534.html" } ], "site_lbl": "Thr444" }, { "start_pos": 445, "end_pos": 445, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O75534", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75534" }, { "database": "PubMed", "id": "17287340", "url": "https://glygen.org/publication/PubMed/17287340" }, { "database": "phospho.ELM", "id": "O75534", "url": "http://phospho.elm.eu.org/byAccession/O75534.html" } ], "site_lbl": "Ser445" }, { "start_pos": 481, "end_pos": 481, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O75534", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75534" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr481" }, { "start_pos": 492, "end_pos": 492, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O75534", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75534" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser492" }, { "start_pos": 514, "end_pos": 514, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O75534", "url": "https://www.uniprot.org/uniprot/O75534" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" }, { "database": "iPTMnet", "id": "O75534", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75534" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ], "site_lbl": "Ser514" }, { "start_pos": 56, "end_pos": 56, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O75534", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75534" }, { "database": "PubMed", "id": "28228285", "url": "" } ], "site_lbl": "Tyr56" }, { "start_pos": 584, "end_pos": 584, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O75534", "url": "https://www.uniprot.org/uniprot/O75534" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O75534", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75534" } ], "site_lbl": "Ser584" }, { "start_pos": 761, "end_pos": 761, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "O75534", "url": "https://www.uniprot.org/uniprot/O75534" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O75534", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75534" } ], "site_lbl": "Thr761" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "unr, a cellular cytoplasmic RNA-binding protein with five cold-shock domains, is required for internal initiation of translation of human rhinovirus RNA.", "journal": "Genes & development", "date": "1999", "authors": "Hunt SL, Hsuan JJ, Totty N, Jackson RJ", "evidence": [ { "database": "UniProtKB", "id": "O75534", "url": "https://www.uniprot.org/uniprot/O75534" } ], "reference": [ { "type": "PubMed", "id": "10049359", "url": "https://glygen.org/publication/PubMed/10049359" } ] }, { "title": "Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "2000", "authors": "Hu R M, Han Z G, Song H D, Peng Y D, Huang Q H, Ren S X, Gu Y J, Huang C H, Li Y B, Jiang C L, Fu G, Zhang Q H, Gu B W, Dai M, Mao Y F, Gao G F, Rong R, Ye M, Zhou J, Xu S H, Gu J, Shi J X, Jin W R, Zhang C K, Wu T M, Huang G Y, Chen Z, Chen M D, Chen J L", "evidence": [ { "database": "UniProtKB", "id": "O75534", "url": "https://www.uniprot.org/uniprot/O75534" } ], "reference": [ { "type": "PubMed", "id": "10931946", "url": "https://glygen.org/publication/PubMed/10931946" } ] }, { "title": "A mechanism for translationally coupled mRNA turnover: interaction between the poly(A) tail and a c-fos RNA coding determinant via a protein complex.", "journal": "Cell", "date": "2000-09-29", "authors": "Grosset C, Chen C Y, Xu N, Sonenberg N, Jacquemin-Sablon H, Shyu A B", "evidence": [ { "database": "UniProtKB", "id": "O75534", "url": "https://www.uniprot.org/uniprot/O75534" } ], "reference": [ { "type": "PubMed", "id": "11051545", "url": "https://glygen.org/publication/PubMed/11051545" } ] }, { "title": "UNR, a new partner of poly(A)-binding protein, plays a key role in translationally coupled mRNA turnover mediated by the c-fos major coding-region determinant.", "journal": "Genes & development", "date": "2004", "authors": "Chang TC, Yamashita A, Chen CY, Yamashita Y, Zhu W, Durdan S, Kahvejian A, Sonenberg N, Shyu AB", "evidence": [ { "database": "UniProtKB", "id": "O75534", "url": "https://www.uniprot.org/uniprot/O75534" } ], "reference": [ { "type": "PubMed", "id": "15314026", "url": "https://glygen.org/publication/PubMed/15314026" } ] }, { "title": "The autoregulatory translational control element of poly(A)-binding protein mRNA forms a heteromeric ribonucleoprotein complex.", "journal": "Nucleic Acids Res.", "date": "2005", "authors": "Patel Gopal P, Ma Shuhua, Bag Jnanankur", "evidence": [ { "database": "UniProtKB", "id": "O75534", "url": "https://www.uniprot.org/uniprot/O75534" } ], "reference": [ { "type": "PubMed", "id": "16356927", "url": "https://glygen.org/publication/PubMed/16356927" } ] }, { "title": "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.", "journal": "Cell", "date": "2006", "authors": "Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M", "evidence": [ { "database": "UniProtKB", "id": "O75534", "url": "https://www.uniprot.org/uniprot/O75534" }, { "database": "iPTMnet", "id": "O75534-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75534-1" } ], "reference": [ { "type": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ] }, { "title": "Global proteomic profiling of phosphopeptides using electron transfer dissociation tandem mass spectrometry.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2007", "authors": "Molina H, Horn DM, Tang N, Mathivanan S, Pandey A", "evidence": [ { "database": "iPTMnet", "id": "O75534-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75534-1" } ], "reference": [ { "type": "PubMed", "id": "17287340", "url": "https://glygen.org/publication/PubMed/17287340" } ] }, { "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": "O75534", "url": "https://www.uniprot.org/uniprot/O75534" }, { "database": "iPTMnet", "id": "O75534-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75534-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.", "journal": "Analytical chemistry", "date": "2009", "authors": "Gauci S, Helbig AO, Slijper M, Krijgsveld J, Heck AJ, Mohammed S", "evidence": [ { "database": "iPTMnet", "id": "O75534-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75534-1" } ], "reference": [ { "type": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ] }, { "title": "Lysine acetylation targets protein complexes and co-regulates major cellular functions.", "journal": "Science (New York, N.Y.)", "date": "2009", "authors": "Choudhary C, Kumar C, Gnad F, Nielsen ML, Rehman M, Walther TC, Olsen JV, Mann M", "evidence": [ { "database": "UniProtKB", "id": "O75534", "url": "https://www.uniprot.org/uniprot/O75534" } ], "reference": [ { "type": "PubMed", "id": "19608861", "url": "https://glygen.org/publication/PubMed/19608861" } ] }, { "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": "O75534-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75534-1" } ], "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": "O75534-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75534-1" } ], "reference": [ { "type": "PubMed", "id": "19664994", "url": "https://glygen.org/publication/PubMed/19664994" } ] }, { "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": "O75534", "url": "https://www.uniprot.org/uniprot/O75534" }, { "database": "iPTMnet", "id": "O75534-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75534-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "The NMR solution structures of the five constituent cold-shock domains (CSD) of the human UNR (upstream of N-ras) protein.", "journal": "J. Struct. Funct. Genomics", "date": "2010", "authors": "Goroncy Alexander K, Koshiba Seizo, Tochio Naoya, Tomizawa Tadashi, Inoue Makoto, Inoue Makato, Watanabe Satoru, Harada Takushi, Tanaka Akiko, Ohara Osamu, Kigawa Takanori, Yokoyama Shigeyuki", "evidence": [ { "database": "UniProtKB", "id": "O75534", "url": "https://www.uniprot.org/uniprot/O75534" } ], "reference": [ { "type": "PubMed", "id": "20213426", "url": "https://glygen.org/publication/PubMed/20213426" } ] }, { "title": "Glycopeptide-specific monoclonal antibodies suggest new roles for O-GlcNAc.", "journal": "Nature chemical biology", "date": "2010", "authors": "Teo CF, Ingale S, Wolfert MA, Elsayed GA, Not LG, Chatham JC, Wells L, Boons GJ", "evidence": [ { "database": "O-GlcNAc Database", "id": "O75534", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75534" } ], "reference": [ { "type": "PubMed", "id": "20305658", "url": "https://glygen.org/publication/PubMed/20305658" } ] }, { "title": "Organization of the human N-ras locus: characterization of a gene located immediately upstream of N-ras.", "journal": "Oncogene", "date": "1991", "authors": "Nicolaiew N, Triqueneaux G, Dautry F", "evidence": [ { "database": "UniProtKB", "id": "O75534", "url": "https://www.uniprot.org/uniprot/O75534" } ], "reference": [ { "type": "PubMed", "id": "2052355", "url": "https://glygen.org/publication/PubMed/2052355" } ] }, { "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": "O75534", "url": "https://www.uniprot.org/uniprot/O75534" }, { "database": "iPTMnet", "id": "O75534", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75534" } ], "reference": [ { "type": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" } ] }, { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "O75534", "url": "https://www.uniprot.org/uniprot/O75534" }, { "database": "iPTMnet", "id": "O75534", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75534" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "Proteome wide purification and identification of O-GlcNAc-modified proteins using click chemistry and mass spectrometry.", "journal": "Journal of proteome research", "date": "2013", "authors": "Hahne H, Sobotzki N, Nyberg T, Helm D, Borodkin VS, van Aalten DM, Agnew B, Kuster B", "evidence": [ { "database": "O-GlcNAc Database", "id": "O75534", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75534" } ], "reference": [ { "type": "PubMed", "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498" } ] }, { "title": "Uncovering global SUMOylation signaling networks in a site-specific manner.", "journal": "Nat. Struct. Mol. Biol.", "date": "2014", "authors": "Hendriks IA, D'Souza RC, Yang B, Verlaan-de Vries M, Mann M, Vertegaal AC", "evidence": [ { "database": "UniProtKB", "id": "O75534", "url": "https://www.uniprot.org/uniprot/O75534" } ], "reference": [ { "type": "PubMed", "id": "25218447", "url": "https://glygen.org/publication/PubMed/25218447" } ] }, { "title": "The DDX6-4E-T interaction mediates translational repression and P-body assembly.", "journal": "Nucleic Acids Res.", "date": "2016", "authors": "Kamenska A, Simpson C, Vindry C, Broomhead H, Benard M, Ernoult-Lange M, Lee BP, Harries LW, Weil D, Standart N", "evidence": [ { "database": "UniProtKB", "id": "O75534", "url": "https://www.uniprot.org/uniprot/O75534" } ], "reference": [ { "type": "PubMed", "id": "27342281", "url": "https://glygen.org/publication/PubMed/27342281" } ] }, { "title": "Synthesis of a Highly Azide-Reactive and Thermosensitive Biofunctional Reagent for Efficient Enrichment and Large-Scale Identification of O-GlcNAc Proteins by Mass Spectrometry.", "journal": "Analytical chemistry", "date": "2017", "authors": "Zhang W, Liu T, Dong H, Bai H, Tian F, Shi Z, Chen M, Wang J, Qin W, Qian X", "evidence": [ { "database": "O-GlcNAc Database", "id": "O75534", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75534" } ], "reference": [ { "type": "PubMed", "id": "28510447", "url": "https://glygen.org/publication/PubMed/28510447" } ] }, { "title": "High-Density Proximity Mapping Reveals the Subcellular Organization of mRNA-Associated Granules and Bodies.", "journal": "Molecular cell", "date": "2018", "authors": "Youn JY, Dunham WH, Hong SJ, Knight JDR, Bashkurov M, Chen GI, Bagci H, Rathod B, MacLeod G, Eng SWM, Angers S, Morris Q, Fabian M, Cote JF, Gingras AC", "evidence": [ { "database": "UniProtKB", "id": "O75534", "url": "https://www.uniprot.org/uniprot/O75534" } ], "reference": [ { "type": "PubMed", "id": "29395067", "url": "https://glygen.org/publication/PubMed/29395067" } ] }, { "title": "An Isotope-Coded Photocleavable Probe for Quantitative Profiling of Protein O-GlcNAcylation.", "journal": "ACS chemical biology", "date": "2019", "authors": "Li J, Li Z, Duan X, Qin K, Dang L, Sun S, Cai L, Hsieh-Wilson LC, Wu L, Yi W", "evidence": [ { "database": "O-GlcNAc Database", "id": "O75534", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75534" }, { "database": "O-GlcNAc Atlas", "id": "O75534", "url": "https://oglcnac.org/atlas/detail/O75534" } ], "reference": [ { "type": "PubMed", "id": "30620550", "url": "https://glygen.org/publication/PubMed/30620550" } ] }, { "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": "O75534", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75534" } ], "reference": [ { "type": "PubMed", "id": "32119511", "url": "https://glygen.org/publication/PubMed/32119511" } ] }, { "title": "4E-T-bound mRNAs are stored in a silenced and deadenylated form.", "journal": "Genes Dev.", "date": "2020", "authors": "R\u00e4sch Felix, Weber Ramona, Izaurralde Elisa, Igreja C\u00e1tia", "evidence": [ { "database": "UniProtKB", "id": "O75534", "url": "https://www.uniprot.org/uniprot/O75534" } ], "reference": [ { "type": "PubMed", "id": "32354837", "url": "https://glygen.org/publication/PubMed/32354837" } ] }, { "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": "O75534", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75534" } ], "reference": [ { "type": "PubMed", "id": "33214551", "url": "https://glygen.org/publication/PubMed/33214551" } ] }, { "title": "A new tandem enrichment strategy for the simultaneous profiling of O-GlcNAcylation and phosphorylation in RNA-binding proteome.", "journal": "The Analyst", "date": "2021", "authors": "Fan Z, Li J, Liu T, Zhang Z, Qin W, Qian X", "evidence": [ { "database": "O-GlcNAc Database", "id": "O75534", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75534" }, { "database": "O-GlcNAc Atlas", "id": "O75534", "url": "https://oglcnac.org/atlas/detail/O75534" } ], "reference": [ { "type": "PubMed", "id": "33465208", "url": "https://glygen.org/publication/PubMed/33465208" } ] }, { "title": "Oncolytic virotherapy induced CSDE1 neo-antigenesis restricts VSV replication but can be targeted by immunotherapy.", "journal": "Nature communications", "date": "2021", "authors": "Kottke T, Tonne J, Evgin L, Driscoll CB, van Vloten J, Jennings VA, Huff AL, Zell B, Thompson JM, Wongthida P, Pulido J, Schuelke MR, Samson A, Selby P, Ilett E, McNiven M, Roberts LR, Borad MJ, Pandha H, Harrington K, Melcher A, Vile RG", "evidence": [ { "database": "RefSeq", "id": "NP_001007554", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001007554" } ], "reference": [ { "type": "PubMed", "id": "33772027", "url": "https://glygen.org/publication/PubMed/33772027" } ] }, { "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": "O75534", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75534" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "Synthesis of Na2S2O4 mediated cleavable affinity tag for labeling of O-GlcNAc modified proteins via azide-alkyne cycloaddition.", "journal": "Bioorganic & medicinal chemistry letters", "date": "2021", "authors": "Wang J, Dou B, Zheng L, Cao W, Zeng X, Wen Y, Ma J, Li X", "evidence": [ { "database": "O-GlcNAc Database", "id": "O75534", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75534" } ], "reference": [ { "type": "PubMed", "id": "34229054", "url": "https://glygen.org/publication/PubMed/34229054" } ] }, { "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": "O75534", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75534" } ], "reference": [ { "type": "PubMed", "id": "34725712", "url": "https://glygen.org/publication/PubMed/34725712" } ] }, { "title": "Coordinated post-transcriptional control of oncogene-induced senescence by UNR/CSDE1.", "journal": "Cell reports", "date": "2022", "authors": "Avolio R, Ingles-Ferrandiz M, Ciocia A, Coll O, Bonnin S, Guitart T, Ribo A, Gebauer F", "evidence": [ { "database": "RefSeq", "id": "NP_001007554", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001007554" } ], "reference": [ { "type": "PubMed", "id": "35021076", "url": "https://glygen.org/publication/PubMed/35021076" } ] }, { "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": "O75534", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75534" } ], "reference": [ { "type": "PubMed", "id": "35138101", "url": "https://glygen.org/publication/PubMed/35138101" } ] }, { "title": "Reduced miR-371b-5p expression drives tumor progression via CSDE1/RAC1 regulation in triple-negative breast cancer.", "journal": "Oncogene", "date": "2022", "authors": "Kim Y, Ko JY, Lee SB, Oh S, Park JW, Kang HG, Kim DH, Chung D, Lim S, Kong H, Kim J, Yoo KH, Han W, Chun KH, Park JH", "evidence": [ { "database": "RefSeq", "id": "NP_001007554", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001007554" } ], "reference": [ { "type": "PubMed", "id": "35490208", "url": "https://glygen.org/publication/PubMed/35490208" } ] }, { "title": "Cold shock domain-containing protein E1 is a posttranscriptional regulator of the LDL receptor.", "journal": "Science translational medicine", "date": "2022", "authors": "Smith GA, Padmanabhan A, Lau BH, Pampana A, Li L, Lee CY, Pelonero A, Nishino T, Sadagopan N, Xia VQ, Jain R, Natarajan P, Wu RS, Black BL, Srivastava D, Shokat KM, Chorba JS", "evidence": [ { "database": "RefSeq", "id": "NP_001007554", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001007554" } ], "reference": [ { "type": "PubMed", "id": "36103516", "url": "https://glygen.org/publication/PubMed/36103516" } ] }, { "title": "CSDE1 promotes miR-451 biogenesis.", "journal": "Nucleic acids research", "date": "2023-09-22", "authors": "Kakumani Pavan Kumar, Ko Yunkoo, Ramakrishna Sushmitha, Christopher Grace, Dodgson Maria, Shrinet Jatin, Harvey Louis-Mathieu, Shin Chanseok, Simard Martin J", "evidence": [ { "database": "RefSeq", "id": "NP_001007554", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001007554" } ], "reference": [ { "type": "PubMed", "id": "37493604", "url": "https://glygen.org/publication/PubMed/37493604" } ] }, { "title": "Exon skipping in the expression of the gene immediately upstream of N-ras (unr/NRU).", "journal": "Biochim. Biophys. Acta", "date": "1993", "authors": "Boussadia O, Jacquemin-Sablon H, Dautry F", "evidence": [ { "database": "UniProtKB", "id": "O75534", "url": "https://www.uniprot.org/uniprot/O75534" } ], "reference": [ { "type": "PubMed", "id": "8439573", "url": "https://glygen.org/publication/PubMed/8439573" } ] } ], "pathway": [ { "id": "hsa:7812", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:7812", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "A0A287B2T9-1", "protein_name": "Cold shock domain containing E1", "gene_name": "CSDE1", "tax_id": 9823, "organism": "Sus scrofa", "sequence": { "sequence": "MENVFTVSSDPHPPPATPPSLSLPLSSSSTSSGTKKQKRTPTYQRSMSFDPNLLHNNGHNGYPNGTSAALRETGVIEKLLTSYGFIQCSERQARLFFHCSQYNGNLQDLKVGDDVEFEVSSDRRTGKPIAVKLVKIKQEILPEERINGQVVCAVPHNLESKSPAAPGQSPTGSVCYERNGEVFYLTYTPEDVEGNVQLETGDKINFVIDNNKHTGAVSARNIMLLKKKQARCQGVVCAMKEAFGFIERGDVVKEIFFHYSEFKGDLETLQPGDDVEFTIKDRNGKEVATDVRLLPQGTVIFEDISIEHFEGTVTKVIPKVPSKNQNDPLPGRIKVDFVIPKELPFGDKDTKSKVTLLEGDHVRFNISTDRRDKLERATNIEVLSNTFQFTNEAREMGVIAAMRDGFGFIKCVDRDARMFFHFSEILDGNQLHIADEVEFTVVPDMLSAQRNHAIRIKKLPKGTVSFHSHSDHRFLGTVEKEATFSNPKTTSPNKGKEKEAEDGVIAYDDCGVKLTIAFQAKDVEGSTSPQIGDKVEFSISDKQRPGQQIATCVRLLGRNSNSKRLLGYVATLKDNFGFIETANHDKEIFFHYSEFSGDVDSLELGDMVEYSLSKGKGNKVSAEKVSKTHSVNGITEEADPTIYSGKVIRPLRSVDPTQTEYQGMIEIVEEGDMKGEVYPFGIVGMANKGDCLQKGESVKFQLCVLGQNAQTMAYNITPLRRATVECVKDQFGFINYEVGDSKKLFFHVKEVQDGIELQAGDEVEFSVILNQRTGKCSACNVWRVCEGPKAVAAPRPDRLVNRLKNITLDDASAPRLMVLRQPRGPDNSMGFGAERKIRQAGVID", "length": 844 }, "evidence": [ { "id": "O75534", "url": "https://omabrowser.org/oma/group/O75534/", "database": "OMA" } ], "common_name": "Pig" }, { "uniprot_canonical_ac": "B7Z0E2-1", "protein_name": "Upstream of N-ras, isoform D", "gene_name": "Unr", "tax_id": 7227, "organism": "Drosophila melanogaster", "sequence": { "sequence": "MNTQSKVYRTGEEIYDNLPCDSYFNMNAIRNLGIPTTFPTIGTFTLDSTTLGLQPQGQGPSPQQQQHQQQQQQQQQQHQQNMHHHQHQQQHMQQQQQQQQHQQQHQQQQHQQQQQHQQQQQQQQQHPTIGMFDANEVNDVIQNPPQIGVFQSNSVLTNGAGSGSSIFGSQSSNSSAAAADPSQTTRETGIIEKLLHSYGFIQCCERQARLFFHFSQFSGNIDHLKIGDPVEFEMTYDRRTGKPIASQVSKIAPEVVLSEERVTGTVTTELRTDSANNVLNSSETTGRISYENRGECFFLPYTKDDVEGNVNLRAGDKVSFQIATNQRGNLGACHIRLENPAQPVKYRGVVCSMKESFGFIERADVVKEIFFHFSEAEGNVELRPGDDVEFTIQTRSVSGSGDPTNPNMLQSKMQSASVPPQGREFACNITRLAPGSVIFEDVDSTVYKGQVLKSLDRNNPVRQNNDPLPGRIRYRALDYSEVEVPFGDKDQKGDFTLRHGDWVQFLLATDRRDQLQRATSIALLDETFKVSGEKREQGTIASLKEGFGFLRCVERQARLFFHFTEVLDTSREIDINDEVEFTVIQEPGLAYNNSRLQAIRIKHLPPNSVQFETLVASNIEGCVTREAPKSPIKSQDRVEGGVITYEHADVKKTIMYFLKDCEKPPRIGERVRFDIYMVKRNKECIAVNVQQVSLHQQQQQQQQQLHLNQSNAGANINQNDQLGGLSNGISSSSSNASLQNGYVMHGSPGGSTSSVGSNNPVHLDEFKMENNNHAGSDAGQVYRGFIAVMKENFGFIETLSHDEEVFFHFSNYMGNPNWLELGQEVEYTLARNGNTSVSGNCLPAENVRMLPKNSIPQPAVLETTHNGVVARPLRCINPDQQEYAGLIEILDELRTTVISQHEFGITSLVNKRDLLQKGDLVSFRIDESGRAACVNAVRQKKRATVDSIKGQFGFLNFEVEDGKKLFFHMSEVQGNTVALHPGDTVEFSVVTNQRNGKSSACNVLKINDRPDRLISRLKLNGDDTVPRLILIRAPKGPQGKGFSVLARHPRIPGNLVE", "length": 1057 }, "evidence": [ { "id": "O75534", "url": "https://omabrowser.org/oma/group/O75534/", "database": "OMA" } ], "common_name": "Fruit fly" }, { "uniprot_canonical_ac": "P18395-1", "protein_name": "Cold shock domain-containing protein E1", "gene_name": "Csde1", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MSFDPNLLHNNGHNGYPNGTSAALRETGVIEKLLTSYGFIQCSERQARLFFHCSQYNGNLQDLKVGDDVEFEVSSDRRTGKPIAIKLVKIKPEIHPEERMNGQVVCAVPHNLESKSPAAPGQSPTGSVCYERNGEVFYLTYTSEDVEGNVQLETGDKINFVIDNNKHTGAVSARNIMLLKKKQARYQGVVCAMKEAFGFIERGDVVKEIFFHYSEFKGDLETLQPGDDVEFTIKDRNGKEVATDVRLLPQGTVIFEDISIEHFEGTVTKVIPKVPSKNQNDPLPGRIKVDFVIPKELPFGDKDTKSKVTLLEGDHVRFNISTDRRDKLERATNIEVLSNTFQFTNEAREMGVIAAMRDGFGFIKCVDRDARMFFHFSEILDGNQLHIADEVEFTVVPDMLSAQRNHAIRIKKLPKGTVSFHSHSDHRFLGTVEKEATFSNPKTTSPNKGKDKEAEDGIIAYDDCGVKLTIAFQAKDVEGSTSPQIGDKVEFSISDKQRPGQQIATCVRLLGRNSNSKRLLGYVATLKDNFGFIETANHDKEIFFHYSEFSGDVDSLELGDMVEYSLSKGKGNKVSAEKVNKTHSVNGITEEANPTIYSGKVIRPLRGVDPTQIEYQGMIEIVEEGDMKGEVYPFGIVGMANKGDCLQKGESVKFQLCVLGQNAQTMAYNITPLRRATVECVKDQFGFINYEVGDSKKLFFHVKEVQDGIELQAGDEVEFSVILNQRTGKCSACNVWRVCEGPKAVAAPRPDRLVNRLKNITLDDASAPRLMVLRQPRGPDNSMGFGAERKIRQAGVID", "length": 798 }, "evidence": [ { "id": "45929598", "url": "http://www.informatics.jax.org/homology/45929598", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q91W50-1", "protein_name": "Cold shock domain-containing protein E1", "gene_name": "Csde1", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MSFDPNLLHNNGHNGYPNGTSAALRETGVIEKLLTSYGFIQCSERQARLFFHCSQYNGNLQDLKVGDDVEFEVSSDRRTGKPIAIKLVKIKPEIHPEERMNGQVVCAVPHNLESKSPAAPGQSPTGSVCYERNGEVFYLTYTSEDVEGNVQLETGDKINFVIDNNKHTGAVSARNIMLLKKKQARCQGVVCAMKEAFGFIERGDVVKEIFFHYSEFKGDLETLQPGDDVEFTIKDRNGKEVATDVRLLPQGTVIFEDISIEHFEGTVTKVIPKVPSKNQNDPLPGRIKVDFVIPKELPFGDKDTKSKVTLLEGDHVRFNISTDRRDKLERATNIEVLSNTFQFTNEAREMGVIAAMRDGFGFIKCVDRDARMFFHFSEILDGNQLHIADEVEFTVVPDMLSAQRNHAIRIKKLPKGTVSFHSHSDHRFLGTVEKEATFSNPKTTSPNKGKDKEAEDGIIAYDDCGVKLTIAFQAKDVEGSTSPQIGDKVEFSISDKQRPGQQIATCVRLLGRNSNSKRLLGYVATLKDNFGFIETANHDKEIFFHYSEFSGDVDSLELGDMVEYSLSKGKGNKVSAEKVNKAHSVNGITEEANPTIYSGKVIRPLRGVDPTQIEYQGMIEIVEEGDMKGEVYPFGIVGMANKGDCLQKGESVKFQLCVLGQNAQTMAYNITPLRRATVECVKDQFGFINYEVGDSKKLFFHVKEVQDGVELQAGDEVEFSVILNQRTGKCSACNVWRVCEGPKAVAAPRPDRLVNRLKNITLDDASAPRLMVLRQPRGPDNSMGFGAERKIRQAGVID", "length": 798 }, "evidence": [ { "id": "45929598", "url": "http://www.informatics.jax.org/homology/45929598", "database": "MGI" }, { "id": "O75534", "url": "https://omabrowser.org/oma/group/O75534/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 3, "go_terms": [ { "name": "nucleic acid binding", "id": "GO:0003676", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003676", "evidence": [ { "database": "UniProtKB", "id": "O75534", "url": "https://www.uniprot.org/uniprot/O75534" } ], "pmid": "" }, { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "O75534", "url": "https://www.uniprot.org/uniprot/O75534" } ], "pmid": "" }, { "name": "RNA stem-loop binding", "id": "GO:0035613", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035613", "evidence": [ { "database": "UniProtKB", "id": "O75534", "url": "https://www.uniprot.org/uniprot/O75534" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 7, "go_terms": [ { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "O75534", "url": "https://www.uniprot.org/uniprot/O75534" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "O75534", "url": "https://www.uniprot.org/uniprot/O75534" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "O75534", "url": "https://www.uniprot.org/uniprot/O75534" } ], "pmid": "" }, { "name": "P-body", "id": "GO:0000932", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000932", "evidence": [ { "database": "UniProtKB", "id": "O75534", "url": "https://www.uniprot.org/uniprot/O75534" } ], "pmid": "" }, { "name": "cytoplasmic stress granule", "id": "GO:0010494", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010494", "evidence": [ { "database": "UniProtKB", "id": "O75534", "url": "https://www.uniprot.org/uniprot/O75534" } ], "pmid": "" }, { "name": "CRD-mediated mRNA stability complex", "id": "GO:0070937", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070937", "evidence": [ { "database": "UniProtKB", "id": "O75534", "url": "https://www.uniprot.org/uniprot/O75534" } ], "pmid": "" }, { "name": "mCRD-mediated mRNA stability complex", "id": "GO:0106002", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106002", "evidence": [ { "database": "UniProtKB", "id": "O75534", "url": "https://www.uniprot.org/uniprot/O75534" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 8, "go_terms": [ { "name": "CRD-mediated mRNA stabilization", "id": "GO:0070934", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070934", "evidence": [ { "database": "UniProtKB", "id": "O75534", "url": "https://www.uniprot.org/uniprot/O75534" } ], "pmid": "" }, { "name": "positive regulation of cytoplasmic translation", "id": "GO:2000767", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000767", "evidence": [ { "database": "UniProtKB", "id": "O75534", "url": "https://www.uniprot.org/uniprot/O75534" } ], "pmid": "" }, { "name": "IRES-dependent viral translational initiation", "id": "GO:0075522", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0075522", "evidence": [ { "database": "UniProtKB", "id": "O75534", "url": "https://www.uniprot.org/uniprot/O75534" } ], "pmid": "" }, { "name": "male gonad development", "id": "GO:0008584", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008584", "evidence": [ { "database": "UniProtKB", "id": "O75534", "url": "https://www.uniprot.org/uniprot/O75534" } ], "pmid": "" }, { "name": "regulation of translational initiation", "id": "GO:0006446", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006446", "evidence": [ { "database": "UniProtKB", "id": "O75534", "url": "https://www.uniprot.org/uniprot/O75534" } ], "pmid": "" }, { "name": "stress granule assembly", "id": "GO:0034063", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034063", "evidence": [ { "database": "UniProtKB", "id": "O75534", "url": "https://www.uniprot.org/uniprot/O75534" } ], "pmid": "" }, { "name": "nuclear-transcribed mRNA catabolic process, no-go decay", "id": "GO:0070966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070966", "evidence": [ { "database": "UniProtKB", "id": "O75534", "url": "https://www.uniprot.org/uniprot/O75534" } ], "pmid": "" }, { "name": "negative regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay", "id": "GO:1900152", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900152", "evidence": [ { "database": "UniProtKB", "id": "O75534", "url": "https://www.uniprot.org/uniprot/O75534" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 18, "end_pos": 20, "annotation": "n_glycosylation_sequon" }, { "start_pos": 319, "end_pos": 321, "annotation": "n_glycosylation_sequon" }, { "start_pos": 580, "end_pos": 582, "annotation": "n_glycosylation_sequon" }, { "start_pos": 669, "end_pos": 671, "annotation": "n_glycosylation_sequon" }, { "start_pos": 759, "end_pos": 761, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.oma", "label": "OMA Homologs" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [ 27, 505 ], "snv_sites": [ 114, 166, 302, 304, 437, 443, 505, 517, 765, 780 ], "glycation_sites": [], "phosphorylation_sites": [ 56, 116, 123, 168, 276, 444, 445, 481, 492, 514, 584, 761 ], "sequon_annotation_sites": [ { "start_pos": 18, "end_pos": 20 }, { "start_pos": 319, "end_pos": 321 }, { "start_pos": 580, "end_pos": 582 }, { "start_pos": 669, "end_pos": 671 }, { "start_pos": 759, "end_pos": 761 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 }, { "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": 2 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 2 } ], "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": 12 }, { "field": "total_sites", "count": 12 } ], "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": 10 }, { "field": "total_sites", "count": 10 } ], "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": 3 }, { "field": "total_sites", "count": 3 } ], "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": 38 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }