{ "uniprot_canonical_ac": "A5YKK6-1", "uniprot_ac": "A5YKK6", "uniprot_id": "CNOT1_HUMAN", "mass": { "chemical_mass": 266939.0, "monoisotopic_mass": 266939.0 }, "refseq": { "ac": "NP_001252541", "name": "CCR4-NOT transcription complex subunit 1 isoform c", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001252541" }, "gene_names": [ { "name": "CNOT1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/A5YKK6", "id": "A5YKK6" }, { "name": "AD-005; CDC39; HPE12; NOT1; NOT1H; VIBOS", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001252541", "id": "NP_001252541" }, { "name": "AD-005", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A5YKK6", "id": "A5YKK6" }, { "name": "CDC39", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A5YKK6", "id": "A5YKK6" }, { "name": "CNOT1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001252541", "id": "NP_001252541" }, { "name": "KIAA1007", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A5YKK6", "id": "A5YKK6" }, { "name": "NOT1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A5YKK6", "id": "A5YKK6" } ], "protein_names": [ { "name": "CCR4-NOT transcription complex subunit 1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "A5YKK6" }, { "name": "CCR4-NOT transcription complex subunit 1 isoform c", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001252541", "id": "NP_001252541" }, { "name": "CCR4-associated factor 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "A5YKK6" }, { "name": "NOT1 (negative regulator of transcription 1, yeast) homolog; adrenal gland protein AD-005; CCR4-associated factor 1; negative regulator of transcription subunit 1 homolog", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001252541", "id": "NP_001252541" }, { "name": "NOT1H", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "A5YKK6" }, { "name": "Negative regulator of transcription subunit 1 homolog", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "A5YKK6" }, { "name": "hNOT1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "A5YKK6" } ], "function": [ { "annotation": "CCR4-NOT differentially controls host versus virus poly(a)-tail length and regulates HCMV infection.", "evidence": [ { "database": "RefSeq", "id": "NP_001252541", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001252541" }, { "database": "PubMed", "id": "37846490", "url": "https://glygen.org/publication/PubMed/37846490" } ] }, { "annotation": "Purification and characterization of 1.0 MDa yeast CCR4-NOT complex identifies two novel components, CAF40 and CAF130: yeast CAF40 binds human NOT1", "evidence": [ { "database": "RefSeq", "id": "NP_001252541", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001252541" }, { "database": "PubMed", "id": "11733989", "url": "https://glygen.org/publication/PubMed/11733989" } ] }, { "annotation": "RNF219 attenuates global mRNA decay through inhibition of CCR4-NOT complex-mediated deadenylation. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001252541", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001252541" }, { "database": "PubMed", "id": "34887419", "url": "https://glygen.org/publication/PubMed/34887419" } ] }, { "annotation": "Scaffolding component of the CCR4-NOT complex which is one of the major cellular mRNA deadenylases and is linked to various cellular processes including bulk mRNA degradation, miRNA-mediated repression, translational repression during translational initiation and general transcription regulation. Additional complex functions may be a consequence of its influence on mRNA expression. Its scaffolding function implies its interaction with the catalytic complex module and diverse RNA-binding proteins mediating the complex recruitment to selected mRNA 3'UTRs. Involved in degradation of AU-rich element (ARE)-containing mRNAs probably via association with ZFP36. Mediates the recruitment of the CCR4-NOT complex to miRNA targets and to the RISC complex via association with TNRC6A, TNRC6B or TNRC6C. Acts as a transcriptional repressor. Represses the ligand-dependent transcriptional activation by nuclear receptors. Involved in the maintenance of embryonic stem (ES) cell identity.", "evidence": [ { "database": "UniProtKB", "id": "A5YKK6", "url": "https://www.uniprot.org/uniprot/A5YKK6#function" }, { "database": "PubMed", "id": "21976065", "url": "https://glygen.org/publication/PubMed/21976065" }, { "database": "PubMed", "id": "21278420", "url": "https://glygen.org/publication/PubMed/21278420" }, { "database": "PubMed", "id": "22367759", "url": "https://glygen.org/publication/PubMed/22367759" }, { "database": "PubMed", "id": "10637334", "url": "https://glygen.org/publication/PubMed/10637334" }, { "database": "PubMed", "id": "23644599", "url": "https://glygen.org/publication/PubMed/23644599" }, { "database": "PubMed", "id": "21984185", "url": "https://glygen.org/publication/PubMed/21984185" }, { "database": "PubMed", "id": "16778766", "url": "https://glygen.org/publication/PubMed/16778766" }, { "database": "PubMed", "id": "32354837", "url": "https://glygen.org/publication/PubMed/32354837" }, { "database": "PubMed", "id": "27558897", "url": "https://glygen.org/publication/PubMed/27558897" } ] }, { "annotation": "Structure of the human Ccr4-Not nuclease module using X-ray crystallography and electron paramagnetic resonance spectroscopy distance measurements.", "evidence": [ { "database": "RefSeq", "id": "NP_001252541", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001252541" }, { "database": "PubMed", "id": "34923703", "url": "https://glygen.org/publication/PubMed/34923703" } ] }, { "annotation": "TASOR epigenetic repressor cooperates with a CNOT1 RNA degradation pathway to repress HIV. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001252541", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001252541" }, { "database": "PubMed", "id": "35013187", "url": "https://glygen.org/publication/PubMed/35013187" } ] }, { "annotation": "Vissers-Bodmer syndrome caused by a novel de novo CNOT1 frameshift variant.", "evidence": [ { "database": "RefSeq", "id": "NP_001252541", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001252541" }, { "database": "PubMed", "id": "37818768", "url": "https://glygen.org/publication/PubMed/37818768" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs2040453527", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2040453527" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1038, "end_pos": 1038, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->I).", "chr_id": "16", "chr_pos": "58551677", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1038", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "A5YKK6", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A5YKK6" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1041, "end_pos": 1041, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "A", "comment": "Somatic mutation passed 1 out of 6 filters: o-glyco-site-loss (T->A).", "chr_id": "16", "chr_pos": "58551669", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "T1041", "disease": [ { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": 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"keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1451266528", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1451266528" }, { "id": "rs1451266528", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1451266528#frequency_tab" }, { "id": "rs1451266528", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1451266528" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1044, "end_pos": 1044, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->A).", "chr_id": "16", "chr_pos": "58551660", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1044", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "A5YKK6", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A5YKK6" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1047, 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"MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL 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"name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", 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"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 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"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": "" 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"name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "A5YKK6", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A5YKK6" } ], "glycoeffect": [], "start_pos": 499, "end_pos": 499, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "16", "chr_pos": "58578787", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R499", "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": 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"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" } ] }, { "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. 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"I", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NFI->NFT).", "chr_id": "16", "chr_pos": "58587826", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I88", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [ { "start_pos": 1208, "end_pos": 1208, "sequence_org": "K", "sequence_mut": "E", "comment": "Impairs interaction with CNOT7; when associated with Y-1212 and E-1218.", "evidence": [ { "database": "UniProtKB", "id": "A5YKK6", "url": "https://www.uniprot.org/uniprot/A5YKK6" }, { "database": "PubMed", "id": "22977175", "url": "https://glygen.org/publication/PubMed/22977175" } ] }, { "start_pos": 1209, "end_pos": 1209, "sequence_org": "P", "sequence_mut": "Y", "comment": "Abolishes interaction with CNOT7; when associated with Y-1257.", "evidence": [ { "database": "UniProtKB", "id": "A5YKK6", "url": "https://www.uniprot.org/uniprot/A5YKK6" } ] }, { "start_pos": 1212, "end_pos": 1212, "sequence_org": "H", "sequence_mut": "Y", "comment": "Impairs interaction with CNOT7; when associated with E-1208 and E-1218.", "evidence": [ { "database": "UniProtKB", "id": "A5YKK6", "url": "https://www.uniprot.org/uniprot/A5YKK6" }, { "database": "PubMed", "id": "22977175", "url": "https://glygen.org/publication/PubMed/22977175" } ] }, { "start_pos": 1218, "end_pos": 1218, "sequence_org": "K", "sequence_mut": "E", "comment": "Impairs interaction with CNOT7; when associated with E-1208 and Y-1212.", "evidence": [ { "database": "UniProtKB", "id": "A5YKK6", "url": "https://www.uniprot.org/uniprot/A5YKK6" }, { "database": "PubMed", "id": "22977175", "url": "https://glygen.org/publication/PubMed/22977175" } ] }, { "start_pos": 1251, "end_pos": 1251, "sequence_org": "V", "sequence_mut": "R", "comment": "Abolishes interaction with CNOT7.", "evidence": [ { "database": "UniProtKB", "id": "A5YKK6", "url": "https://www.uniprot.org/uniprot/A5YKK6" } ] }, { "start_pos": 1257, "end_pos": 1257, "sequence_org": "P", "sequence_mut": "Y", "comment": "Abolishes interaction with CNOT7; when associated with Y-1209.", "evidence": [ { "database": "UniProtKB", "id": "A5YKK6", "url": "https://www.uniprot.org/uniprot/A5YKK6" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "95.04", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000125107", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000125107" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "95.72", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000125107", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000125107" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": 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"https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL 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"name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, 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"http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "A5YKK6", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A5YKK6" } ], "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": "A5YKK6", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A5YKK6" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "A5YKK6", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A5YKK6" } ], "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": 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"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 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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": "A5YKK6", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A5YKK6" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A5YKK6" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "No", "trend": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ 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"categories": [ "3D Structure" ] }, { "id": "5ONA", "url": "https://www.rcsb.org/structure/5ONA", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7VOI", "url": "https://www.rcsb.org/structure/7VOI", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "8BFI", "url": "https://www.rcsb.org/structure/8BFI", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "8FY3", "url": "https://www.rcsb.org/structure/8FY3", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF04054", "url": "http://pfam.xfam.org/family/PF04054", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF12842", "url": "http://pfam.xfam.org/family/PF12842", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF16415", "url": "http://pfam.xfam.org/family/PF16415", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF16417", "url": "http://pfam.xfam.org/family/PF16417", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF16418", "url": "http://pfam.xfam.org/family/PF16418", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "A5YKK6", "url": "https://pharos.nih.gov/targets/A5YKK6", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_A5YKK6", "url": "http://purl.obolibrary.org/obo/PR_A5YKK6", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-429947", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-429947", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-6804115", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6804115", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-9820841", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9820841", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001252541", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001252541", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A5YKK6", "url": "https://www.uniprot.org/uniprot/A5YKK6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A5YKK6-1", "url": "https://www.uniprot.org/uniprot/A5YKK6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A5YKK6-2", "url": "https://www.uniprot.org/uniprot/A5YKK6-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A5YKK6-3", "url": "https://www.uniprot.org/uniprot/A5YKK6-3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A5YKK6-4", "url": "https://www.uniprot.org/uniprot/A5YKK6-4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BMH0", "url": "https://www.uniprot.org/uniprot/H3BMH0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BMH0-1", "url": "https://www.uniprot.org/uniprot/H3BMH0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BMZ2", "url": "https://www.uniprot.org/uniprot/H3BMZ2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BMZ2-1", "url": "https://www.uniprot.org/uniprot/H3BMZ2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BNB1", "url": "https://www.uniprot.org/uniprot/H3BNB1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BNB1-1", "url": "https://www.uniprot.org/uniprot/H3BNB1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BPF1", "url": "https://www.uniprot.org/uniprot/H3BPF1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BPF1-1", "url": "https://www.uniprot.org/uniprot/H3BPF1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BR89", "url": "https://www.uniprot.org/uniprot/H3BR89", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BR89-1", "url": "https://www.uniprot.org/uniprot/H3BR89-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BT18", "url": "https://www.uniprot.org/uniprot/H3BT18", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BT18-1", "url": "https://www.uniprot.org/uniprot/H3BT18-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BTH2", "url": "https://www.uniprot.org/uniprot/H3BTH2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BTH2-1", "url": "https://www.uniprot.org/uniprot/H3BTH2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BU44", "url": "https://www.uniprot.org/uniprot/H3BU44", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BU44-1", "url": "https://www.uniprot.org/uniprot/H3BU44-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BVC9", "url": "https://www.uniprot.org/uniprot/H3BVC9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BVC9-1", "url": "https://www.uniprot.org/uniprot/H3BVC9-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MNLDSLSLALSQISYLVDNLTKKNYRASQQEIQHIVNRHGPEADRHLLRCLFSHVDFSGDGKSSGKDFHQTQFLIQECALLITKPNFISTLSYAIDNPLHYQKSLKPAPHLFAQLSKVLKLSKVQEVIFGLALLNSSSSDLRGFAAQFIKQKLPDLLRSYIDADVSGNQEGGFQDIAIEVLHLLLSHLLFGQKGAFGVGQEQIDAFLKTLRRDFPQERCPVVLAPLLYPEKRDILMDRILPDSGGVAKTMMESSLADFMQEVGYGFCASIEECRNIIVQFGVREVTAAQVARVLGMMARTHSGLTDGIPLQSISAPGSGIWSDGKDKSDGAQAHTWNVEVLIDVLKELNPSLNFKEVTYELDHPGFQIRDSKGLHNVVYGIQRGLGMEVFPVDLIYRPWKHAEGQLSFIQHSLINPEIFCFADYPCHTVATDILKAPPEDDNREIATWKSLDLIESLLRLAEVGQYEQVKQLFSFPIKHCPDMLVLALLQINTSWHTLRHELISTLMPIFLGNHPNSAIILHYAWHGQGQSPSIRQLIMHAMAEWYMRGEQYDQAKLSRILDVAQDLKALSMLLNGTPFAFVIDLAALASRREYLKLDKWLTDKIREHGEPFIQACMTFLKRRCPSILGGLAPEKDQPKSAQLPPETLATMLACLQACAGSVSQELSETILTMVANCSNVMNKARQPPPGVMPKGRPPSASSLDAISPVQIDPLAGMTSLSIGGSAAPHTQSMQGFPPNLGSAFSTPQSPAKAFPPLSTPNQTTAFSGIGGLSSQLPVGGLGTGSLTGIGTGALGLPAVNNDPFVQRKLGTSGLNQPTFQQSKMKPSDLSQVWPEANQHFSKEIDDEANSYFQRIYNHPPHPTMSVDEVLEMLQRFKDSTIKREREVFNCMLRNLFEEYRFFPQYPDKELHITACLFGGIIEKGLVTYMALGLALRYVLEALRKPFGSKMYYFGIAALDRFKNRLKDYPQYCQHLASISHFMQFPHHLQEYIEYGQQSRDPPVKMQGSITTPGSIALAQAQAQAQVPAKAPLAGQVSTMVTTSTTTTVAKTVTVTRPTGVSFKKDVPPSINTTNIDTLLVATDQTERIVEPPENIQEKIAFIFNNLSQSNMTQKVEELKETVKEEFMPWVSQYLVMKRVSIEPNFHSLYSNFLDTLKNPEFNKMVLNETYRNIKVLLTSDKAAANFSDRSLLKNLGHWLGMITLAKNKPILHTDLDVKSLLLEAYVKGQQELLYVVPFVAKVLESSIRSVVFRPPNPWTMAIMNVLAELHQEHDLKLNLKFEIEVLCKNLALDINELKPGNLLKDKDRLKNLDEQLSAPKKDVKQPEELPPITTTTTSTTPATNTTCTATVPPQPQYSYHDINVYSLAGLAPHITLNPTIPLFQAHPQLKQCVRQAIERAVQELVHPVVDRSIKIAMTTCEQIVRKDFALDSEESRMRIAAHHMMRNLTAGMAMITCREPLLMSISTNLKNSFASALRTASPQQREMMDQAAAQLAQDNCELACCFIQKTAVEKAGPEMDKRLATEFELRKHARQEGRRYCDPVVLTYQAERMPEQIRLKVGGVDPKQLAVYEEFARNVPGFLPTNDLSQPTGFLAQPMKQAWATDDVAQIYDKCITELEQHLHAIPPTLAMNPQAQALRSLLEVVVLSRNSRDAIAALGLLQKAVEGLLDATSGADADLLLRYRECHLLVLKALQDGRAYGSPWCNKQITRCLIECRDEYKYNVEAVELLIRNHLVNMQQYDLHLAQSMENGLNYMAVAFAMQLVKILLVDERSVAHVTEADLFHTIETLMRINAHSRGNAPEGLPQLMEVVRSNYEAMIDRAHGGPNFMMHSGISQASEYDDPPGLREKAEYLLREWVNLYHSAAAGRDSTKAFSAFVGQMHQQGILKTDDLITRFFRLCTEMCVEISYRAQAEQQHNPAANPTMIRAKCYHNLDAFVRLIALLVKHSGEATNTVTKINLLNKVLGIVVGVLLQDHDVRQSEFQQLPYHRIFIMLLLELNAPEHVLETINFQTLTAFCNTFHILRPTKAPGFVYAWLELISHRIFIARMLAHTPQQKGWPMYAQLLIDLFKYLAPFLRNVELTKPMQILYKGTLRVLLVLLHDFPEFLCDYHYGFCDVIPPNCIQLRNLILSAFPRNMRLPDPFTPNLKVDMLSEINIAPRILTNFTGVMPPQFKKDLDSYLKTRSPVTFLSDLRSNLQVSNEPGNRYNLQLINALVLYVGTQAIAHIHNKGSTPSMSTITHSAHMDIFQNLAVDLDTEGRYLFLNAIANQLRYPNSHTHYFSCTMLYLFAEANTEAIQEQITRVLLERLIVNRPHPWGLLITFIELIKNPAFKFWNHEFVHCAPEIEKLFQSVAQCCMGQKQAQQVMEGTGAS", "length": 2376, "header": "sp|A5YKK6-1|CNOT1_HUMAN Isoform 1 of CCR4-NOT transcription complex subunit 1 OS=Homo sapiens OX=9606 GN=CNOT1 PE=1 SV=2 CANONICAL=A5YKK6-1" }, "isoforms": [ { "isoform_ac": "A5YKK6-1", "url": "", "sequence": { "sequence": "MNLDSLSLALSQISYLVDNLTKKNYRASQQEIQHIVNRHGPEADRHLLRCLFSHVDFSGDGKSSGKDFHQTQFLIQECALLITKPNFISTLSYAIDNPLHYQKSLKPAPHLFAQLSKVLKLSKVQEVIFGLALLNSSSSDLRGFAAQFIKQKLPDLLRSYIDADVSGNQEGGFQDIAIEVLHLLLSHLLFGQKGAFGVGQEQIDAFLKTLRRDFPQERCPVVLAPLLYPEKRDILMDRILPDSGGVAKTMMESSLADFMQEVGYGFCASIEECRNIIVQFGVREVTAAQVARVLGMMARTHSGLTDGIPLQSISAPGSGIWSDGKDKSDGAQAHTWNVEVLIDVLKELNPSLNFKEVTYELDHPGFQIRDSKGLHNVVYGIQRGLGMEVFPVDLIYRPWKHAEGQLSFIQHSLINPEIFCFADYPCHTVATDILKAPPEDDNREIATWKSLDLIESLLRLAEVGQYEQVKQLFSFPIKHCPDMLVLALLQINTSWHTLRHELISTLMPIFLGNHPNSAIILHYAWHGQGQSPSIRQLIMHAMAEWYMRGEQYDQAKLSRILDVAQDLKALSMLLNGTPFAFVIDLAALASRREYLKLDKWLTDKIREHGEPFIQACMTFLKRRCPSILGGLAPEKDQPKSAQLPPETLATMLACLQACAGSVSQELSETILTMVANCSNVMNKARQPPPGVMPKGRPPSASSLDAISPVQIDPLAGMTSLSIGGSAAPHTQSMQGFPPNLGSAFSTPQSPAKAFPPLSTPNQTTAFSGIGGLSSQLPVGGLGTGSLTGIGTGALGLPAVNNDPFVQRKLGTSGLNQPTFQQSKMKPSDLSQVWPEANQHFSKEIDDEANSYFQRIYNHPPHPTMSVDEVLEMLQRFKDSTIKREREVFNCMLRNLFEEYRFFPQYPDKELHITACLFGGIIEKGLVTYMALGLALRYVLEALRKPFGSKMYYFGIAALDRFKNRLKDYPQYCQHLASISHFMQFPHHLQEYIEYGQQSRDPPVKMQGSITTPGSIALAQAQAQAQVPAKAPLAGQVSTMVTTSTTTTVAKTVTVTRPTGVSFKKDVPPSINTTNIDTLLVATDQTERIVEPPENIQEKIAFIFNNLSQSNMTQKVEELKETVKEEFMPWVSQYLVMKRVSIEPNFHSLYSNFLDTLKNPEFNKMVLNETYRNIKVLLTSDKAAANFSDRSLLKNLGHWLGMITLAKNKPILHTDLDVKSLLLEAYVKGQQELLYVVPFVAKVLESSIRSVVFRPPNPWTMAIMNVLAELHQEHDLKLNLKFEIEVLCKNLALDINELKPGNLLKDKDRLKNLDEQLSAPKKDVKQPEELPPITTTTTSTTPATNTTCTATVPPQPQYSYHDINVYSLAGLAPHITLNPTIPLFQAHPQLKQCVRQAIERAVQELVHPVVDRSIKIAMTTCEQIVRKDFALDSEESRMRIAAHHMMRNLTAGMAMITCREPLLMSISTNLKNSFASALRTASPQQREMMDQAAAQLAQDNCELACCFIQKTAVEKAGPEMDKRLATEFELRKHARQEGRRYCDPVVLTYQAERMPEQIRLKVGGVDPKQLAVYEEFARNVPGFLPTNDLSQPTGFLAQPMKQAWATDDVAQIYDKCITELEQHLHAIPPTLAMNPQAQALRSLLEVVVLSRNSRDAIAALGLLQKAVEGLLDATSGADADLLLRYRECHLLVLKALQDGRAYGSPWCNKQITRCLIECRDEYKYNVEAVELLIRNHLVNMQQYDLHLAQSMENGLNYMAVAFAMQLVKILLVDERSVAHVTEADLFHTIETLMRINAHSRGNAPEGLPQLMEVVRSNYEAMIDRAHGGPNFMMHSGISQASEYDDPPGLREKAEYLLREWVNLYHSAAAGRDSTKAFSAFVGQMHQQGILKTDDLITRFFRLCTEMCVEISYRAQAEQQHNPAANPTMIRAKCYHNLDAFVRLIALLVKHSGEATNTVTKINLLNKVLGIVVGVLLQDHDVRQSEFQQLPYHRIFIMLLLELNAPEHVLETINFQTLTAFCNTFHILRPTKAPGFVYAWLELISHRIFIARMLAHTPQQKGWPMYAQLLIDLFKYLAPFLRNVELTKPMQILYKGTLRVLLVLLHDFPEFLCDYHYGFCDVIPPNCIQLRNLILSAFPRNMRLPDPFTPNLKVDMLSEINIAPRILTNFTGVMPPQFKKDLDSYLKTRSPVTFLSDLRSNLQVSNEPGNRYNLQLINALVLYVGTQAIAHIHNKGSTPSMSTITHSAHMDIFQNLAVDLDTEGRYLFLNAIANQLRYPNSHTHYFSCTMLYLFAEANTEAIQEQITRVLLERLIVNRPHPWGLLITFIELIKNPAFKFWNHEFVHCAPEIEKLFQSVAQCCMGQKQAQQVMEGTGAS", "length": 2376, "header": "sp|A5YKK6-1|CNOT1_HUMAN Isoform 1 of CCR4-NOT transcription complex subunit 1 OS=Homo sapiens OX=9606 GN=CNOT1 PE=1 SV=2 CANONICAL=A5YKK6-1" }, "locus": { "chromosome": "16", "start_pos": 58599337, "end_pos": 58520961, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000317147.10", "url": "https://www.ensembl.org/id/ENST00000317147.10" }, { "database": "Ensembl Peptide", "id": "ENSP00000320949.5", "url": "https://www.ensembl.org/id/ENSP00000320949.5" } ] } }, { "isoform_ac": "A5YKK6-2", "url": "", "sequence": { "sequence": "MNLDSLSLALSQISYLVDNLTKKNYRASQQEIQHIVNRHGPEADRHLLRCLFSHVDFSGDGKSSGKDFHQTQFLIQECALLITKPNFISTLSYAIDNPLHYQKSLKPAPHLFAQLSKVLKLSKVQEVIFGLALLNSSSSDLRGFAAQFIKQKLPDLLRSYIDADVSGNQEGGFQDIAIEVLHLLLSHLLFGQKGAFGVGQEQIDAFLKTLRRDFPQERCPVVLAPLLYPEKRDILMDRILPDSGGVAKTMMESSLADFMQEVGYGFCASIEECRNIIVQFGVREVTAAQVARVLGMMARTHSGLTDGIPLQSISAPGSGIWSDGKDKSDGAQAHTWNVEVLIDVLKELNPSLNFKEVTYELDHPGFQIRDSKGLHNVVYGIQRGLGMEVFPVDLIYRPWKHAEGQLSFIQHSLINPEIFCFADYPCHTVATDILKAPPEDDNREIATWKSLDLIESLLRLAEVGQYEQVKQLFSFPIKHCPDMLVLALLQINTSWHTLRHELISTLMPIFLGNHPNSAIILHYAWHGQGQSPSIRQLIMHAMAEWYMRGEQYDQAKLSRILDVAQDLKALSMLLNGTPFAFVIDLAALASRREYLKLDKWLTDKIREHGEPFIQACMTFLKRRCPSILGGLAPEKDQPKSAQLPPETLATMLACLQACAGSVSQELSETILTMVANCSNVMNKARQPPPGVMPKGRPPSASSLDAISPVQIDPLAGMTSLSIGGSAAPHTQSMQGFPPNLGSAFSTPQSPAKAFPPLSTPNQTTAFSGIGGLSSQLPVGGLGTGSLTGIGTGALGLPAVNNDPFVQRKLGTSGLNQPTFQQTDLSQVWPEANQHFSKEIDDEANSYFQRIYNHPPHPTMSVDEVLEMLQRFKDSTIKREREVFNCMLRNLFEEYRFFPQYPDKELHITACLFGGIIEKGLVTYMALGLALRYVLEALRKPFGSKMYYFGIAALDRFKNRLKDYPQYCQHLASISHFMQFPHHLQEYIEYGQQSRDPPVKMQGSITTPGSIALAQAQAQAQVPAKAPLAGQVSTMVTTSTTTTVAKTVTVTRPTGVSFKKDVPPSINTTNIDTLLVATDQTERIVEPPENIQEKIAFIFNNLSQSNMTQKVEELKETVKEEFMPWVSQYLVMKRVSIEPNFHSLYSNFLDTLKNPEFNKMVLNETYRNIKVLLTSDKAAANFSDRSLLKNLGHWLGMITLAKNKPILHTDLDVKSLLLEAYVKGQQELLYVVPFVAKVLESSIRSVVFRPPNPWTMAIMNVLAELHQEHDLKLNLKFEIEVLCKNLALDINELKPGNLLKDKDRLKNLDEQLSAPKKDVKQPEELPPITTTTTSTTPATNTTCTATVPPQPQYSYHDINVYSLAGLAPHITLNPTIPLFQAHPQLKQCVRQAIERAVQELVHPVVDRSIKIAMTTCEQIVRKDFALDSEESRMRIAAHHMMRNLTAGMAMITCREPLLMSISTNLKNSFASALRTASPQQREMMDQAAAQLAQDNCELACCFIQKTAVEKAGPEMDKRLATEFELRKHARQEGRRYCDPVVLTYQAERMPEQIRLKVGGVDPKQLAVYEEFARNVPGFLPTNDLSQPTGFLAQPMKQAWATDDVAQIYDKCITELEQHLHAIPPTLAMNPQAQALRSLLEVVVLSRNSRDAIAALGLLQKAVEGLLDATSGADADLLLRYRECHLLVLKALQDGRAYGSPWCNKQITRCLIECRDEYKYNVEAVELLIRNHLVNMQQYDLHLAQSMENGLNYMAVAFAMQLVKILLVDERSVAHVTEADLFHTIETLMRINAHSRGNAPEGLPQLMEVVRSNYEAMIDRAHGGPNFMMHSGISQASEYDDPPGLREKAEYLLREWVNLYHSAAAGRDSTKAFSAFVGQMHQQGILKTDDLITRFFRLCTEMCVEISYRAQAEQQHNPAANPTMIRAKCYHNLDAFVRLIALLVKHSGEATNTVTKINLLNKVLGIVVGVLLQDHDVRQSEFQQLPYHRIFIMLLLELNAPEHVLETINFQTLTAFCNTFHILRPTKAPGFVYAWLELISHRIFIARMLAHTPQQKGWPMYAQLLIDLFKYLAPFLRNVELTKPMQILYKGTLRVLLVLLHDFPEFLCDYHYGFCDVIPPNCIQLRNLILSAFPRNMRLPDPFTPNLKVDMLSEINIAPRILTNFTGVMPPQFKKDLDSYLKTRSPVTFLSDLRSNLQVSNEPGNRYNLQLINALVLYVGTQAIAHIHNKGSTPSMSTITHSAHMDIFQNLAVDLDTEGRYLFLNAIANQLRYPNSHTHYFSCTMLYLFAEANTEAIQEQITRVLLERLIVNRPHPWGLLITFIELIKNPAFKFWNHEFVHCAPEIEKLFQSVAQCCMGQKQAQQVMEGTGAS", "length": 2371, "header": "sp|A5YKK6-2|CNOT1_HUMAN Isoform 2 of CCR4-NOT transcription complex subunit 1 OS=Homo sapiens OX=9606 GN=CNOT1 PE=1 SV=2 CANONICAL=A5YKK6-1" }, "locus": { "chromosome": "16", "start_pos": 58599337, "end_pos": 58520961, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000569240.5", "url": "https://www.ensembl.org/id/ENST00000569240.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000455635.1", "url": "https://www.ensembl.org/id/ENSP00000455635.1" } ] } }, { "isoform_ac": "A5YKK6-3", "url": "", "sequence": { "sequence": "MNLDSLSLALSQISYLVDNLTKKNYRASQQEIQHIVNRHGPEADRHLLRCLFSHVDFSGDGKSSGKDFHQTQFLIQECALLITKPNFISTLSYAIDNPLHYQKSLKPAPHLFAQLSKVLKLSKVQEVIFGLALLNSSSSDLRGFAAQFIKQKLPDLLRSYIDADVSGNQEGGFQDIAIEVLHLLLSHLLFGQKGAFGVGQEQIDAFLKTLRRDFPQERCPVVLAPLLYPEKRDILMDRILPDSGGVAKTMMESSLADFMQEVGYGFCASIEECRNIIVQFGVREVTAAQVARVLGMMARTHSGLTDGIPLQSISAPGSGIWSDGKDKSDGAQAHTWNVEVLIDVLKELNPSLNFKEVTYELDHPGFQIRDSKGLHNVVYGIQRGLGMEVFPVDLIYRPWKHAEGQLSFIQHSLINPEIFCFADYPCHTVATDILKAPPEDDNREIATWKSLDLIESLLRLAEVGQYEQVKQLFSFPIKHCPDMLVLALLQINTSWHTLRHELISTLMPIFLGNHPNSAIILHYAWHGQGQSPSIRQLIMHAMAEWYMRGEQYDQAKLSRILDVAQDLKALSMLLNGTPFAFVIDLAALASRREYLKLDKWLTDKIREHGEPFIQACMTFLKRRCPSILGGLAPEKDQPKSAQLPPETLATMLACLQACAGSVSQELSETILTMVANCSNVMNKARQPPPGVMPKGRPPSASSLDAISPVQIDPLAGMTSLSIGGSAAPHTQSMQGFPPNLGSAFSTPQSPAKAFPPLSTPNQTTAFSGIGGLSSQLPVGGLGTGSLTGIGTGALGLPAVNNDPFVQRKLGTSGLNQPTFQQTDLSQVWPEANQHFSKEIDDEANSYFQRIYNHPPHPTMSVDEVLEMLQRFKDSTIKREREVFNCMLRNLFEEYRFFPQYPDKELHITACLFGGIIEKGLVTYMALGLALRYVLEALRKPFGSKMYYFGIAALDRFKNRLKDYPQYCQHLASISHFMQFPHHLQEYIEYGQQSRDPPVKMQGSITTPGSIALAQAQAQAQVPAKAPLAGQVSTMVTTSTTTTVAKTVTVTRPTGVSFKKDVPPSINTTNIDTLLVATDQTERIVEPPENIQEKIAFIFNNLSQSNMTQKVEELKETVKEEFMPWVSQYLVMKRVSIEPNFHSLYSNFLDTLKNPEFNKMVLNETYRNIKVLLTSDKAAANFSDRSLLKNLGHWLGMITLAKNKPILHTDLDVKSLLLEAYVKGQQELLYVVPFVAKVLESSIRSVVFRPPNPWTMAIMNVLAELHQEHDLKLNLKFEIEVLCKNLALDINELKPGNLLKDKDRLKNLDEQLSAPKKDVKQPEELPPITTTTTSTTPATNTTCTATVPPQPQYSYHDINVYSLAGLAPHITLNPTIPLFQAHPQLKQCVRQAIERAVQELVHPVVDRSIKIAMTTCEQIVRKDFALDSEESRMRIAAHHMMRNLTAGMAMITCREPLLMSISTNLKNSFASALRTASPQQREMMDQAAAQLAQDNCELACCFIQKTAVEKAGPEMDKRLATEFELRKHARQEGRRYCDPVVLTYQAERMPEQIRLKVGGVDPKQLAVYEEFARNVPGFLPTNDLSQPTGFLAQPMKQAWATDDVAQIYDKCITELEQHLHAIPPTLAMNPQAQALRSLLEVVVLSRNSRDAIAALGLLQKAVEGLLDATSGADADLLLRYRECHLLVLKALQDGRAYGSPWCNKQITRCLIECRDEYKYNVEAVELLIRNHLVNMQQYDLHLAQSMENGLNYMAVAFAMQLVKILLVDERSVAHVTEADLFHTIETLMRINAHSRGNAPEGLPQLMEVVRSNYEAMIDRAHGGPNFMMHSGISQASEYDDPPGLREKAEYLLREWVNLYHSAAAGRDSTKAFSAFVGQMHQQGILKTDDLITRFFRLCTEMCVEISYRAQAEQQHNPAANPTMIRAKCYHNLDAFVRLIALLVKHSGEATNTVTKINLLNKVLGIVVGVLLQDHDVRQSEFQQLPYHRIFIMLLLELNAPEHVLETINFQTLTAFCNTFHILRPTKAPGFVYAWLELISHRIFIARMLAHTPQQKGWPMYAQLLIDLFKYLAPFLRNVELTKPMQILYKGTLRVLLVLLHDFPEFLCDYHYGFCDVIPPNCIQLRNLILSAFPRNMRLPDPFTPNLKSLTL", "length": 2150, "header": "sp|A5YKK6-3|CNOT1_HUMAN Isoform 3 of CCR4-NOT transcription complex subunit 1 OS=Homo sapiens OX=9606 GN=CNOT1 PE=1 SV=2 CANONICAL=A5YKK6-1" }, "locus": { "chromosome": "16", "start_pos": 58599337, "end_pos": 58528094, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000567188.5", "url": "https://www.ensembl.org/id/ENST00000567188.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000456649.1", "url": "https://www.ensembl.org/id/ENSP00000456649.1" } ] } }, { "isoform_ac": "A5YKK6-4", "url": "", "sequence": { "sequence": "MNLDSLSLALSQISYLVDNLTKKNYRASQQEIQHIVNRHGPEADRHLLRCLFSHVDFSGDGKSSGKDFHQTQFLIQECALLITKPNFISTLSYAIDNPLHYQKSLKPAPHLFAQLSKVLKLSKVQEVIFGLALLNSSSSDLRGFAAQFIKQKLPDLLRSYIDADVSGNQEGGFQDIAIEVLHLLLSHLLFGQKGAFGVGQEQIDAFLKTLRRDFPQERCPVVLAPLLYPEKRDILMDRILPDSGGVAKTMMESSLADFMQEVGYGFCASIEECRNIIVQFGVREVTAAQVARVLGMMARTHSGLTDGIPLQSISAPGSGIWSDGKDKSDGAQAHTWNVEVLIDVLKELNPSLNFKEVTYELDHPGFQIRDSKGLHNVVYGIQRGLGMEVFPVDLIYRPWKHAEGQLSFIQHSLINPEIFCFADYPCHTVATDILKAPPEDDNREIATWKSLDLIESLLRLAEVGQYEQVKQLFSFPIKHCPDMLVLALLQINTSWHTLRHELISTLMPIFLGNHPNSAIILHYAWHGQGQSPSIRQLIMHAMAEWYMRGEQYDQAKLSRILDVAQDLKALSMLLNGTPFAFVIDLAALASRREYLKLDKWLTDKIREHGEPFIQACMTFLKRRCPSILGGLAPEKDQPKSAQLPPETLATMLACLQACAGSVSQELSETILTMVANCSNVMNKARQPPPGVMPKGRPPSASSLDAISPVQIDPLAGMTSLSIGGSAAPHTQSMQGFPPNLGSAFSTPQSPAKAFPPLSTPNQTTAFSGIGGLSSQLPVGGLGTGSLTGIGTGALGLPAVNNDPFVQRKLGTSGLNQPTFQQSKMKPSDLSQVWPEANQHFSKEIDDEANSYFQRIYNHPPHPTMSVDEVLEMLQRFKDSTIKREREVFNCMLRNLFEEYRFFPQYPDKELHITACLFGGIIEKGLVTYMALGLALRYVLEALRKPFGSKMYYFGIAALDRFKNRLKDYPQYCQHLASISHFMQFPHHLQEYIEYGQQSRDPPVKMQGSITTPGSIALAQAQAQAQVPAKAPLAGQVSTMVTTSTTTTVAKTVTVTRPTGVSFKKDVPPSINTTNIDTLLVATDQTERIVEPPENIQEKIAFIFNNLSQSNMTQKVEELKETVKEEFMPWVSQYLVMKRVSIEPNFHSLYSNFLDTLKNPEFNKMVLNETYRNIKVLLTSDKAAANFSDRSLLKNLGHWLGMITLAKNKPILHTDLDVKSLLLEAYVKGQQELLYVVPFVAKVLESSIRSVVFRPPNPWTMAIMNVLAELHQEHDLKLNLKFEIEVLCKNLALDINELKPGNLLKDKDRLKNLDEQLSAPKKDVKQPEELPPITTTTTSTTPATNTTCTATVPPQPQYSYHDINVYSLAGLAPHITLNPTIPLFQAHPQLKQCVRQAIERAVQELVHPVVDRSIKIAMTTCEQIVRKDFALDSEESRMRIAAHHMMRNLTAGMAMITCREPLLMSISTNLKNSFASALRVSWLFPWYRYKTYYCLSVIIFFFVYIWHWALPLILNNHHICLMSSIILDCNSVRQSIMSVCFFFFLLYSQHDV", "length": 1551, "header": "sp|A5YKK6-4|CNOT1_HUMAN Isoform 4 of CCR4-NOT transcription complex subunit 1 OS=Homo sapiens OX=9606 GN=CNOT1 PE=1 SV=2 CANONICAL=A5YKK6-1" }, "locus": { "chromosome": "16", "start_pos": 58599337, "end_pos": 58543388, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000441024.6", "url": "https://www.ensembl.org/id/ENST00000441024.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000413113.2", "url": "https://www.ensembl.org/id/ENSP00000413113.2" } ] } }, { "isoform_ac": "H3BMH0-1", "url": "", "sequence": { "sequence": "RREYLKLDKWLTDKIREHGEPFIQACMTFLKRRCPSILGGLAPEKDQPKSAQLPPETLATMLACLQACAGSVSQELSETILTMVANCSNVMNKARQPPPGVMPKGRPPSASSLDAISPVQIDPLAGMTSLSIGGSAAPHTQSMQGFPPNLGSAFSTPQSPAKAFPPLSTPNQTTAFSGIGGLSSQLPGGLGTGSLTGIGTGALGLPAVNNDPFVQRKLGTSGLNQPTFQQSKMKPSDLSQVWPEANQHFSKEIDDEANSYFQRIYNHPPHPTMSVDE", "length": 277, "header": "tr|H3BMH0-1|H3BMH0_HUMAN Computationally mapped isoform of CCR4-NOT transcription complex subunit 1 OS=Homo sapiens OX=9606 GN=CNOT1 PE=1 SV=1 CANONICAL=A5YKK6-1" }, "locus": { "chromosome": "16", "start_pos": 58575063, "end_pos": 58555784, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000569882.1", "url": "https://www.ensembl.org/id/ENST00000569882.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000454377.1", "url": "https://www.ensembl.org/id/ENSP00000454377.1" } ] } }, { "isoform_ac": "H3BMZ2-1", "url": "", "sequence": { "sequence": "PTLAMNPQAQALRSLLEVVVLSRNSRDAIAALGLLQKAVEGLLDATSGADADLLLRYRECHLLVLKALQDGRAYGSPWCNKQITRCLIECRDEYKYNVEAVELLIRNHLVNMQQYDLHLAQSMENGLNYMAVAFAMQLVKILLVDERSVAHVTEADLFHTIETLMRINAHSRGNAPEGLPQLMEVVRSNYEAMIDRAHGGPNFMMHSGISQASEYDDPPGLREKAEYLLREWVNLYHSAAAGRDSTKAFSAFVGQVELLERKMHQQGILKTDDLITRFFRLCTEMCVEISYRAQAEQQHNPAANPTMIRAKCYHNLDAFVRLIALLVKHSGEATNTVTKINLLNKVLGIVVGVLLQDHDVRQSEFQQLPYHRIFIMLLLELNAPEHVLETINFQTLTAFCNTFHILRPTKAPGFVYAWLELISHRIFIARMLAHTPQQK", "length": 439, "header": "tr|H3BMZ2-1|H3BMZ2_HUMAN Computationally mapped isoform of CCR4-NOT transcription complex subunit 1 OS=Homo sapiens OX=9606 GN=CNOT1 PE=1 SV=1 CANONICAL=A5YKK6-1" }, "locus": { "chromosome": "16", "start_pos": 58539878, "end_pos": 58531958, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000568917.1", "url": "https://www.ensembl.org/id/ENST00000568917.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000454611.1", "url": "https://www.ensembl.org/id/ENSP00000454611.1" } ] } }, { "isoform_ac": "H3BNB1-1", "url": "", "sequence": { "sequence": "XAELHQEHDLKDKDRLKNLDEQLSAPKKDVKQPEELPPITTTTTSTTPATNTTCTATVPPQPQYSYHDINVYSLAGLAPHITLNPTIPLFQAHPQLKQCVRQAIERAVQELVHPVVDRSIKIAMTTCEQIVRKDFALDSEESRMRIAAHHMMRNLTAGMAMITCREPLLMSISTNLKNSFASALR", "length": 185, "header": "tr|H3BNB1-1|H3BNB1_HUMAN Computationally mapped isoform of CCR4-NOT transcription complex subunit 1 OS=Homo sapiens OX=9606 GN=CNOT1 PE=1 SV=1 CANONICAL=A5YKK6-1" }, "locus": { "chromosome": "16", "start_pos": 58546702, "end_pos": 58543607, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000567133.1", "url": "https://www.ensembl.org/id/ENST00000567133.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000454763.1", "url": "https://www.ensembl.org/id/ENSP00000454763.1" } ] } }, { "isoform_ac": "H3BPF1-1", "url": "", "sequence": { "sequence": "MNLDSLSLALSQISYLVDNLTKKNY", "length": 25, "header": "tr|H3BPF1-1|H3BPF1_HUMAN Computationally mapped isoform of CCR4-NOT transcription complex subunit 1 OS=Homo sapiens OX=9606 GN=CNOT1 PE=1 SV=8 CANONICAL=A5YKK6-1" }, "locus": { "chromosome": "16", "start_pos": 58599337, "end_pos": 58599263, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000569020.5", "url": "https://www.ensembl.org/id/ENST00000569020.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000457869.1", "url": "https://www.ensembl.org/id/ENSP00000457869.1" } ] } }, { "isoform_ac": "H3BR89-1", "url": "", "sequence": { "sequence": "XSSQLPVGGLGTGSLTGIGTGALGLPAVNNDPFVQRKLGTSGLNQPTFQQSKMKPSDLSQVWPEANQHFSKEIDDEANSYFQRIYNHPPHPTMSVDEYPDKELHITACLFGGIIEKGLVTYMALGLALRYVLEALRKPFGSKMYYFGIAALDRFKNRLKDYPQYCQHLASISHFMQFPHHLQEYIEYGQQSRD", "length": 193, "header": "tr|H3BR89-1|H3BR89_HUMAN Computationally mapped isoform of CCR4-NOT transcription complex subunit 1 OS=Homo sapiens OX=9606 GN=CNOT1 PE=1 SV=1 CANONICAL=A5YKK6-1" }, "locus": { "chromosome": "16", "start_pos": 58558490, "end_pos": 58551790, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000562046.1", "url": "https://www.ensembl.org/id/ENST00000562046.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000456131.1", "url": "https://www.ensembl.org/id/ENSP00000456131.1" } ] } }, { "isoform_ac": "H3BT18-1", "url": "", "sequence": { "sequence": "MNLDSLSLALSQISYLVDNLTKKNYRASQQEIQHIVNRHGPEADRHLLRCLFSHVDFSGDGK", "length": 62, "header": "tr|H3BT18-1|H3BT18_HUMAN Computationally mapped isoform of CCR4-NOT transcription complex subunit 1 OS=Homo sapiens OX=9606 GN=CNOT1 PE=1 SV=1 CANONICAL=A5YKK6-1" }, "locus": { "chromosome": "16", "start_pos": 58599337, "end_pos": 58588823, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000564557.1", "url": "https://www.ensembl.org/id/ENST00000564557.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000456975.1", "url": "https://www.ensembl.org/id/ENSP00000456975.1" } ] } }, { "isoform_ac": "H3BTH2-1", "url": "", "sequence": { "sequence": "XKIAMTTCEQIVRKDFALDSEESRMRIAAHHMMRNLTAGMAMITCREPLLMSISTNLKNSFASALREG", "length": 68, "header": "tr|H3BTH2-1|H3BTH2_HUMAN Computationally mapped isoform of CCR4-NOT transcription complex subunit 1 OS=Homo sapiens OX=9606 GN=CNOT1 PE=1 SV=1 CANONICAL=A5YKK6-1" }, "locus": { "chromosome": "16", "start_pos": 58543802, "end_pos": 58543285, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000566240.1", "url": "https://www.ensembl.org/id/ENST00000566240.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000457173.1", "url": "https://www.ensembl.org/id/ENSP00000457173.1" } ] } }, { "isoform_ac": "H3BU44-1", "url": "", "sequence": { "sequence": "MNLDSLSLALSQISYLVDNLTKKNYRASQQEIQHIVNRHGPEADRHLLRCLFSHVDFSGDGKSSGKDFHQTQFLIQECALLITKPNCLEYLMWPRT", "length": 96, "header": "tr|H3BU44-1|H3BU44_HUMAN Computationally mapped isoform of CCR4-NOT transcription complex subunit 1 OS=Homo sapiens OX=9606 GN=CNOT1 PE=1 SV=1 CANONICAL=A5YKK6-1" }, "locus": { "chromosome": "16", "start_pos": 58599337, "end_pos": 58576468, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000565605.5", "url": "https://www.ensembl.org/id/ENST00000565605.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000457460.1", "url": "https://www.ensembl.org/id/ENSP00000457460.1" } ] } }, { "isoform_ac": "H3BVC9-1", "url": "", "sequence": { "sequence": "XITTPGSIALAQAQAQAQVPAKAPLAGQVSTMVTTSTTTTVAKTVTVTRPTGVSFKKDVPPSINTTNIDTLLVATDQTERIVEPPENIQEKIAFIFNNLSQSNMTQKVEELKETVKEEFMPWVSQYLVMKRVSIEPNFHSLYSNFLDTLKNPEFNKMVLNETYRNIKDLDVKSLLLEAYVKGQQELLYVVPFVAKVLESSIRSVVFRPPNPWTMAIMNVLAELHQEHDLKLNLKFEIEVLC", "length": 241, "header": "tr|H3BVC9-1|H3BVC9_HUMAN Computationally mapped isoform of CCR4-NOT transcription complex subunit 1 OS=Homo sapiens OX=9606 GN=CNOT1 PE=1 SV=1 CANONICAL=A5YKK6-1" }, "locus": { "chromosome": "16", "start_pos": 58551766, "end_pos": 58546465, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000567285.1", "url": "https://www.ensembl.org/id/ENST00000567285.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000458057.1", "url": "https://www.ensembl.org/id/ENSP00000458057.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", 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"date": "2002", "authors": "Duriez C, Falette N, Audoynaud C, Moyret-Lalle C, Bensaad K, Courtois S, Wang Q, Soussi T, Puisieux A", "evidence": [ { "database": "Reactome", "id": "R-HSA-6804115", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6804115" } ], "reference": [ { "type": "PubMed", "id": "11814693", "url": "https://glygen.org/publication/PubMed/11814693" } ] }, { "title": "CCR4, a 3'-5' poly(A) RNA and ssDNA exonuclease, is the catalytic component of the cytoplasmic deadenylase.", "journal": "The EMBO journal", "date": "2002", "authors": "Chen J, Chiang YC, Denis CL", "evidence": [ { "database": "Reactome", "id": "R-HSA-429947", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-429947" } ], "reference": [ { "type": "PubMed", "id": "11889047", "url": "https://glygen.org/publication/PubMed/11889047" } ] }, { "title": "A positive feedback mechanism in the transcriptional activation of Apaf-1 by p53 and the coactivator Zac-1.", "journal": "Oncogene", "date": "2002", 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}, { "title": "Concerted action of poly(A) nucleases and decapping enzyme in mammalian mRNA turnover.", "journal": "Nature structural & molecular biology", "date": "2005", "authors": "Yamashita A, Chang TC, Yamashita Y, Zhu W, Zhong Z, Chen CY, Shyu AB", "evidence": [ { "database": "Reactome", "id": "R-HSA-429947", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-429947" } ], "reference": [ { "type": "PubMed", "id": "16284618", "url": "https://glygen.org/publication/PubMed/16284618" } ] }, { "title": "Human Ccr4-Not complex is a ligand-dependent repressor of nuclear receptor-mediated transcription.", "journal": "The EMBO journal", "date": "2006", "authors": "Winkler GS, Mulder KW, Bardwell VJ, Kalkhoven E, Timmers HT", "evidence": [ { "database": "UniProtKB", "id": "A5YKK6", "url": "https://www.uniprot.org/uniprot/A5YKK6" } ], "reference": [ { "type": "PubMed", "id": "16778766", "url": "https://glygen.org/publication/PubMed/16778766" } ] }, { "title": "Opposing 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"evidence": [ { "database": "O-GlcNAc Database", "id": "A5YKK6", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=A5YKK6" } ], "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 & development", "date": "2020-06-01", "authors": "R\u00e4sch Felix, Weber Ramona, Izaurralde Elisa, Igreja C\u00e1tia", "evidence": [ { "database": "UniProtKB", "id": "A5YKK6", "url": "https://www.uniprot.org/uniprot/A5YKK6" } ], "reference": [ { "type": "PubMed", "id": "32354837", "url": "https://glygen.org/publication/PubMed/32354837" } ] }, { "title": "Homozygous Mutations in BTG4 Cause Zygotic Cleavage Failure and Female Infertility.", "journal": "American journal of human genetics", "date": "2020", "authors": "Zheng W, Zhou Z, Sha Q, Niu X, Sun X, Shi J, Zhao L, Zhang S, Dai J, Cai S, Meng F, Hu L, Gong F, Li X, Fu J, Shi R, Lu G, Chen B, 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materials & interfaces", "date": "2022-10-26", "authors": "Wu Ci, Shi Song, Hou Chunyan, Luo Yang, Byers Stephen, Ma Junfeng", "evidence": [ { "database": "O-GlcNAc Database", "id": "A5YKK6", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=A5YKK6" } ], "reference": [ { "type": "PubMed", "id": "36240223", "url": "https://glygen.org/publication/PubMed/36240223" } ] }, { "title": "`Two Birds One Stone` Strategy for the Site-Specific Analysis of Core Fucosylation and O-GlcNAcylation.", "journal": "Journal of the American Chemical Society", "date": "2023-07-26", "authors": "Luo Yawen, Wang Yuqiu, Tian Yinping, Zhou Hu, Wen Liuqing", "evidence": [ { "database": "O-GlcNAc Database", "id": "A5YKK6", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=A5YKK6" } ], "reference": [ { "type": "PubMed", "id": "37340703", "url": "https://glygen.org/publication/PubMed/37340703" } ] }, { "title": "Vissers-Bodmer syndrome caused by a novel de novo CNOT1 frameshift variant.", "journal": 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Part A", "date": "2024-02", "authors": "Wu Tingting, Chen Xi, Zhang Xingxing", "evidence": [ { "database": "RefSeq", "id": "NP_001252541", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001252541" } ], "reference": [ { "type": "PubMed", "id": "37818768", "url": "https://glygen.org/publication/PubMed/37818768" } ] }, { "title": "CCR4-NOT differentially controls host versus virus poly(a)-tail length and regulates HCMV infection.", "journal": "EMBO reports", "date": "2023-12-06", "authors": "Burgess Hannah M, Grande Rebecca, Riccio Sofia, Dinesh Ikshitaa, Winkler Gerlof Sebastiaan, Depledge Daniel P, Mohr Ian", "evidence": [ { "database": "RefSeq", "id": "NP_001252541", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001252541" } ], "reference": [ { "type": "PubMed", "id": "37846490", "url": "https://glygen.org/publication/PubMed/37846490" } ] }, { "title": "Identification of BTG2, an antiproliferative p53-dependent component of the DNA damage cellular response pathway.", "journal": 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"MNLDSLSLALSQISYLVDNLTKKNYRASQQEIQHIVNRHGPEADRHLLRCLFSHVDFSGDGKSSGKDFHQTQFLIQECASLITKPNFISTLSYAIDNPLHYQKSLKPAPHLFAQLSKVLKLSKVQEVIFGLALLNSSSPDLRGFAAQFIKQKLPDLLRSYIDADVSGNQEGGFQDIAIEVLHLLLSHLLFGQKGAFGVGQEQIDAFLKTLRRDFPQERCPVVLAPLLYPEKRDILMDRILPDSGGVAKTMMESSLADFMQEVGYGFCASIEECRNIIMQFGVREVTAAQVARVLGMMARTHSGLTDGIPLQSISAPGSGIWSDGKDKSEGAQAHTWNVEVLIDVLKELNPSLNFKEVTYELDHPGFQIRDSKGLHNVVYGIQRGLGMEVFPVDFIYRPWKHAEGQLSFIQHSLINPEVFCFADYPCHTVATDILKAPPEDDNREIATWKSLDLIESLLRLAEVGQYEQVKQLFSFPIKHCPDMLVLALLQINTSWHTLRHELISTLMPIFLGNHPNSAIILHYAWHGQGQSPSIRQLIMHAMAEWYMRGEQYDQAKLSRILDVAQDLKALSMLLNGTPFAFVIDLAALASRREYLKLDKWLTDKIREHGEPFIQACMTFLKRRCPSILGGLAPEKDQPKSAQLPAETLATMLACLQACAGSVSQELSETILTMVANCSNVMNKARQPPPGVMPKGRPPSASSLDAISPVQIDPLAGMASLSIGGSAAPHTQSMQGFPPNLGSAFSTPQSPAKAFPPLSTPNQTTAFSGIGGLSSQLPGGLGTGSLTGIGTGALGLPAVNNDPFVQRKLGTSGLNQPTFQQSKMKPSDLSQVWPEANQHFSKEIDDEANSYFQRIYNHPPHPTMSVDEVLEMLQRFKDSTIKREREVFNCMLRNLFEEYRFFPQYPDKELHITACLFGGIIEKGLVTYMALGLALRYVLEALRKPFGSKMYYFGIAALDRFKNRLKDYPQYCQHLASISHFMQFPHHLQEYIEYGQQSRDPPVKMQGSITTPGSIALAQAQAQAQVPAKAPLAGQVNTMVTTSTTTTVAKTVTVTKPTGVSFKKDVPPSINTTNIDTLLVATDQTERIVEPPENIQEKIAFIFNNLSQSNMTQKVEELKETVKEEFMPWVSQYLVMKRVSIEPNFHSLYSNFLDTLKNPEFNKMVLNETYRNIKVLLTSDKAAANFSDRSLLKNLGHWLGMITLAKNKPILHTDLDVKSLLLEAYVKGQQELLYVVPFVAKVLESSIRSLVFRPPNPWTMAIMNVLAELHQEHDLKLNLKFEIEVLCKNLALDINELKPGNLLKDKDRLKNLDEQLSAPKKDVKQPEELPAITTTTTSTTPATSTTCTATVPPQPQYSYHDINVYSLAGLAPHITLNPTIPLFQAHPQLKQCVRQAIERAVQELVHPVVDRSIKIAMTTCEQIVRKDFALDSEESRMRIAAHHMMRNLTAGMAMITCREPLLMSISTNLKNSFASALRTASPQQREMMDQAAAQLAQDNCELACCFIQKTAVEKAGPEMDKRLATEFELRKHARQEGRRYCDPVVLTYQAERMPEQIRLKVGGVDPKQLAVYEEFARNVPGFLPTNDLSQPTGFLAQPMKQAWATDDVAQIYDKCITELEQHLHAIPPTLAMNPQAQALRSLLEVVVLSRNSRDAIAALGLLQKAVEGLLDATSGADADLLLRYRECHLLVLKALQDGRAYGSPWCNKQITRCLIECRDEYKYNVEAVELLIRNHLVNMQQYDLHLAQSMENGLNYMAVAFAMQLVKILLVDERSVAHITEADLFHTIETLMRINAHSRGNAPEGLPQLMEVVRSNYEAMIDRAHGGPNFMMHSGISQASEYDDPPGLREKAEYLLREWVNLYHSAAAGRDSTKAFSAFVGQMHQQGILKTDDLITRFFRLCTEMCVEISYRAQAEQQHNPAANPTMIRAKCYHNLDAFVRLIALLVKHSGEATNTVTKINLLNKVLGIVVGVLLQDHDVRQSEFQQLPYHRIFIMLLLELNAPEHVLETINFQTLTAFCNTFHILRPTKAPGFVYAWLELISHRIFIARMLAHTPQQKGWPMYAQLLIDLFKYLAPFLRNVELTKPMQILYKGTLRVLLVLLHDFPEFLCDYHYGFCDVIPPNCIQLRNLILSAFPRNMRLPDPFTPNLKVDMLSEINIAPRILTNFTGVMPPQFKKDLDSYLKTRSPVTFLSDLRSNLQVSNEPGNRYNLQLINALVLYVGTQAIAHIHNKGSTPSMSTITHSAHMDIFQNLAVDLDTEGRYLFLNAIANQLRYPNSHTHYFSCTMLYLFAEANTEAIQEQITRVLLERLIVNRPHPWGLLITFIELIKNPAFKFWNHEFVHCAPEIEKLFQSVAQCCMGQKQAQQVMEGTGAS", "length": 2375 }, "evidence": [ { "id": "45918946", "url": "http://www.informatics.jax.org/homology/45918946", "database": "MGI" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 6, "go_terms": [ { "name": "molecular adaptor activity", "id": "GO:0060090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060090", "evidence": [ { "database": "UniProtKB", "id": "A5YKK6", "url": "https://www.uniprot.org/uniprot/A5YKK6" } ], "pmid": "" }, { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "A5YKK6", "url": "https://www.uniprot.org/uniprot/A5YKK6" } ], "pmid": "" }, { "name": "protein domain specific binding", "id": "GO:0019904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019904", "evidence": [ { "database": "UniProtKB", "id": "A5YKK6", "url": "https://www.uniprot.org/uniprot/A5YKK6" } ], "pmid": "" }, { "name": "nuclear estrogen receptor binding", "id": "GO:0030331", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030331", "evidence": [ { "database": "UniProtKB", "id": "A5YKK6", "url": "https://www.uniprot.org/uniprot/A5YKK6" } ], "pmid": "" }, { "name": "nuclear retinoic acid receptor binding", "id": "GO:0042974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042974", "evidence": [ { "database": "UniProtKB", "id": "A5YKK6", "url": "https://www.uniprot.org/uniprot/A5YKK6" } ], "pmid": "" }, { "name": "armadillo repeat domain binding", "id": "GO:0070016", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070016", "evidence": [ { "database": "UniProtKB", "id": "A5YKK6", "url": "https://www.uniprot.org/uniprot/A5YKK6" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 13, "go_terms": [ { "name": "negative regulation of transcription by RNA polymerase II", "id": "GO:0000122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000122", "evidence": [ { "database": "UniProtKB", "id": "A5YKK6", "url": "https://www.uniprot.org/uniprot/A5YKK6" } ], "pmid": "" }, { "name": "trophectodermal cell differentiation", "id": "GO:0001829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001829", "evidence": [ { "database": "UniProtKB", "id": "A5YKK6", "url": "https://www.uniprot.org/uniprot/A5YKK6" } ], "pmid": "" }, { "name": "negative regulation of translation", "id": "GO:0017148", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017148", "evidence": [ { "database": "UniProtKB", "id": "A5YKK6", "url": "https://www.uniprot.org/uniprot/A5YKK6" } ], "pmid": "" }, { "name": "positive regulation of nuclear-transcribed mRNA poly(A) tail shortening", "id": "GO:0060213", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060213", "evidence": [ { "database": "UniProtKB", "id": "A5YKK6", "url": "https://www.uniprot.org/uniprot/A5YKK6" } ], "pmid": "" }, { "name": "positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay", "id": "GO:1900153", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900153", "evidence": [ { "database": "UniProtKB", "id": "A5YKK6", "url": "https://www.uniprot.org/uniprot/A5YKK6" } ], "pmid": "" }, { "name": "miRNA-mediated post-transcriptional gene silencing", "id": "GO:0035195", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035195", "evidence": [ { "database": "UniProtKB", "id": "A5YKK6", "url": "https://www.uniprot.org/uniprot/A5YKK6" } ], "pmid": "" }, { "name": "positive regulation of cytoplasmic mRNA processing body assembly", "id": "GO:0010606", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010606", "evidence": [ { "database": "UniProtKB", "id": "A5YKK6", "url": "https://www.uniprot.org/uniprot/A5YKK6" } ], "pmid": "" }, { "name": "positive regulation of mRNA catabolic process", "id": "GO:0061014", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061014", "evidence": [ { "database": "UniProtKB", "id": "A5YKK6", "url": "https://www.uniprot.org/uniprot/A5YKK6" } ], "pmid": "" }, { "name": "regulation of stem cell population maintenance", "id": "GO:2000036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000036", "evidence": [ { "database": "UniProtKB", "id": "A5YKK6", "url": "https://www.uniprot.org/uniprot/A5YKK6" } ], "pmid": "" }, { "name": "negative regulation of intracellular estrogen receptor signaling pathway", "id": "GO:0033147", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033147", "evidence": [ { "database": "UniProtKB", "id": "A5YKK6", "url": "https://www.uniprot.org/uniprot/A5YKK6" } ], "pmid": "" }, { "name": "negative regulation of retinoic acid receptor signaling pathway", "id": "GO:0048387", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048387", "evidence": [ { "database": "UniProtKB", "id": "A5YKK6", "url": "https://www.uniprot.org/uniprot/A5YKK6" } ], "pmid": "" }, { "name": "nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay", "id": "GO:0000288", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000288", "evidence": [ { "database": "UniProtKB", "id": "A5YKK6", "url": "https://www.uniprot.org/uniprot/A5YKK6" } ], "pmid": "" }, { "name": "nuclear-transcribed mRNA poly(A) tail shortening", "id": "GO:0000289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000289", "evidence": [ { "database": "UniProtKB", "id": "A5YKK6", "url": "https://www.uniprot.org/uniprot/A5YKK6" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 8, "go_terms": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "A5YKK6", "url": "https://www.uniprot.org/uniprot/A5YKK6" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "A5YKK6", "url": "https://www.uniprot.org/uniprot/A5YKK6" } ], "pmid": "" }, { "name": "peroxisomal membrane", "id": "GO:0005778", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005778", "evidence": [ { "database": "UniProtKB", "id": "A5YKK6", "url": "https://www.uniprot.org/uniprot/A5YKK6" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "A5YKK6", "url": "https://www.uniprot.org/uniprot/A5YKK6" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "A5YKK6", "url": "https://www.uniprot.org/uniprot/A5YKK6" } ], "pmid": "" }, { "name": "P-body", "id": "GO:0000932", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000932", "evidence": [ { "database": "UniProtKB", "id": "A5YKK6", "url": "https://www.uniprot.org/uniprot/A5YKK6" } ], "pmid": "" }, { "name": "CCR4-NOT complex", "id": "GO:0030014", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030014", "evidence": [ { "database": "UniProtKB", "id": "A5YKK6", "url": "https://www.uniprot.org/uniprot/A5YKK6" } ], "pmid": "" }, { "name": "CCR4-NOT core complex", "id": "GO:0030015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030015", "evidence": [ { "database": "UniProtKB", "id": "A5YKK6", "url": "https://www.uniprot.org/uniprot/A5YKK6" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 1071, "end_pos": 1073, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1105, "end_pos": 1107, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1110, "end_pos": 1112, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1167, "end_pos": 1169, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1185, "end_pos": 1187, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1344, "end_pos": 1346, "annotation": "n_glycosylation_sequon" }, { "start_pos": 135, "end_pos": 137, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1447, "end_pos": 1449, "annotation": "n_glycosylation_sequon" }, { "start_pos": 19, "end_pos": 21, "annotation": "n_glycosylation_sequon" }, { "start_pos": 2167, "end_pos": 2169, "annotation": "n_glycosylation_sequon" }, { "start_pos": 492, "end_pos": 494, "annotation": "n_glycosylation_sequon" }, { "start_pos": 575, "end_pos": 577, "annotation": "n_glycosylation_sequon" }, { "start_pos": 676, "end_pos": 678, "annotation": "n_glycosylation_sequon" }, { "start_pos": 761, "end_pos": 763, "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": [ 746, 758, 764, 827, 880, 1037, 1038, 1041, 1042, 1043, 1044, 1047, 1051, 1053, 1055, 1058, 1061, 1775, 1780 ], "snv_sites": [ 88, 158, 369, 499, 681, 684, 741, 758, 764, 803, 817, 827, 880, 1038, 1041, 1044, 1047, 1051, 1053, 1055, 1070, 1209, 1587, 1733, 1775, 1871, 1925, 2045, 2055, 2285 ], "glycation_sites": [], "phosphorylation_sites": [ 318, 928, 948, 951, 1061, 1133, 1547, 1933, 2074 ], "sequon_annotation_sites": [ { "start_pos": 1071, "end_pos": 1073 }, { "start_pos": 1105, "end_pos": 1107 }, { "start_pos": 1110, "end_pos": 1112 }, { "start_pos": 1167, "end_pos": 1169 }, { "start_pos": 1185, "end_pos": 1187 }, { "start_pos": 1344, "end_pos": 1346 }, { "start_pos": 135, "end_pos": 137 }, { "start_pos": 1447, "end_pos": 1449 }, { "start_pos": 19, "end_pos": 21 }, { "start_pos": 2167, "end_pos": 2169 }, { "start_pos": 492, "end_pos": 494 }, { "start_pos": 575, "end_pos": 577 }, { "start_pos": 676, "end_pos": 678 }, { "start_pos": 761, "end_pos": 763 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 20 }, { "field": "total_sites", "count": 19 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 2 }, { "field": "o_linked_glycan_sites", "count": 19 } ], "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": 20 }, { "field": "total_sites", "count": 19 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 2 }, { "field": "o_linked_glycan_sites", "count": 19 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 9 }, { "field": "total_sites", "count": 9 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 35 }, { "field": "total_sites", "count": 30 } ], "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": 15 }, { "field": "total_sites", "count": 14 } ], "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": 20 }, { "field": "total_sites", "count": 18 } ], "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": 85 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }