{ "uniprot_canonical_ac": "O95170-1", "uniprot_ac": "O95170", "uniprot_id": "CDRT1_HUMAN", "mass": { "chemical_mass": 85370.0, "monoisotopic_mass": 85370.0 }, "refseq": { "ac": "NP_006373", "name": "F-box and WD repeat domain containing protein 10B isoform a", "summary": "Members of the F-box protein family, such as FBXW10, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603034), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006373" }, "gene_names": [ { "name": "FBXW10B", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O95170", "id": "O95170" }, { "name": "C170RF1; C17ORF1; C17ORF1A; CDRT1; FBXW10P1; HREP; SM25H2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006373", "id": "NP_006373" }, { "name": "C17orf1A", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O95170", "id": "O95170" }, { "name": "C17orf1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O95170", "id": "O95170" }, { "name": "CDRT1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O95170", "id": "O95170" }, { "name": "FBXW10B", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006373", "id": "NP_006373" }, { "name": "HREP", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O95170", "id": "O95170" } ], "protein_names": [ { "name": "F-box and WD repeat domain containing protein 10B", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O95170" }, { "name": "CMT1A duplicated region transcript 1 protein; Charcot-Marie-Tooth duplicated region transcript 1; F-box and WD-40 domain protein 10 pseudogene 1; F-box and WD repeat domain containing 10 pseudogene 1; F-box and WD repeat domain containing protein 10B", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006373", "id": "NP_006373" }, { "name": "CMT1A duplicated region transcript 1 protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95170" }, { "name": "F-box and WD repeat domain containing protein 10B isoform a", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006373", "id": "NP_006373" } ], "function": [ { "annotation": "Members of the F-box protein family, such as FBXW10, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603034), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_006373", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006373" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "O95170", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O95170" } ], "glycoeffect": [], "start_pos": 236, "end_pos": 236, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "17", "chr_pos": "15613998", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E236", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. 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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, 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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": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "O95170", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O95170" } ], "glycoeffect": [], "start_pos": 245, "end_pos": 245, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "G", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "17", "chr_pos": "15613970", "ref_nt": "G", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "A245", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", 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"https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of 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"https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, 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"" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": 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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": "O95170", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95170" } ], "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/O95170" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { 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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, 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large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O95170", "url": "https://www.uniprot.org/uniprot/O95170" } ], "common_name": "Human" } ], "gene": [ { "name": "FBXW10B", "url": "https://www.uniprot.org/uniprot/O95170", "locus": { "chromosome": "17", "start_pos": 15565483, "end_pos": 15619704, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000241322", "url": "https://www.ensembl.org/id/ENSG00000241322" } ] } } ], "crossref": [ { "id": "ENSG00000241322", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000241322", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "O95170", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O95170", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "cd00200", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd00200", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "cd22136", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd22136", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "FBXW10B", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=FBXW10B", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "374286", "url": "https://www.ncbi.nlm.nih.gov/gene/374286", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "14379", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=14379", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "IPR001680", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001680", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR015943", "url": "https://www.ebi.ac.uk/interpro/entry/IPR015943", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR019775", "url": "https://www.ebi.ac.uk/interpro/entry/IPR019775", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR020472", "url": "https://www.ebi.ac.uk/interpro/entry/IPR020472", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036047", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036047", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036322", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036322", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:374286", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:374286", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "604596", "url": "http://www.omim.org/entry/604596", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O95170", "url": "https://www.nextprot.org/entry/NX_O95170", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "HRDFISC", "url": "https://omabrowser.org/oma/group/HRDFISC/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "5405718at2759", "url": "http://www.orthodb.org/?query=5405718at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR19872", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR19872", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR19872:SF7", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR19872:SF7", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF00400", "url": "http://pfam.xfam.org/family/PF00400", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O95170", "url": "https://pharos.nih.gov/targets/O95170", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O95170", "url": "http://purl.obolibrary.org/obo/PR_O95170", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_006373", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006373", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A0A087WSX6", "url": "https://www.uniprot.org/uniprot/A0A087WSX6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A087WSX6-1", "url": "https://www.uniprot.org/uniprot/A0A087WSX6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "I3L073", "url": "https://www.uniprot.org/uniprot/I3L073", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "I3L073-1", "url": "https://www.uniprot.org/uniprot/I3L073-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "J3KTF7", "url": "https://www.uniprot.org/uniprot/J3KTF7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "J3KTF7-1", "url": "https://www.uniprot.org/uniprot/J3KTF7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "J3QLS4", "url": "https://www.uniprot.org/uniprot/J3QLS4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "J3QLS4-1", "url": "https://www.uniprot.org/uniprot/J3QLS4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95170", "url": "https://www.uniprot.org/uniprot/O95170", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95170-1", "url": "https://www.uniprot.org/uniprot/O95170-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95170-2", "url": "https://www.uniprot.org/uniprot/O95170-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9BXD7", "url": "https://www.uniprot.org/uniprot/Q9BXD7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9BXD7-1", "url": "https://www.uniprot.org/uniprot/Q9BXD7-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MENLESRLKNAPYFRCEKGTDSIPLCRKCETRVLAWKIFSTKEWFCRINDISQRRFLVGILKQLNSLYLLHYFQNILQTTQGKDFIYNRSRIDLSKKEGKVVKSSLNQMLDKTVEQKMKEILYWFANSTQWTKANYTLLLLQMCNPKLLLTAANVIRVLFLREENNISGLNQDITDVCFSPEKDHSSKSATSQVYWTAKTQHTSLPLSKAPENEHFLGAASNPEEPWRNSLRCISEMNRLFSGKADITKPGYDPCNLLVDLDDIRDLSSGFSKYRDFIRYLPIHLSKYILRMLDRHTLNKCASVSQHWAAMAQQVKMDLSAHGFIQNQITFLQGSYTRGIDPNYANKVSIPVPKMVDDGKSMRVKHPKWKLRTKNEYNLWTAYQNEETQQVLMEERNVFCGTYNVRILSDTWDQNRVIHYSGGDLIAVSSNRKIHLLDIIQVKAIPVEFRGHAGSVRALFLCEEENFLLSGSYDLSIRYWDLKSGVCTRIFGGHQGTITCMDLCKNRLVSGGRDCQVKVWDVDTGKCLKTFRHKDPILATRINDTYIVSSCERGLVKVWHIAMAQLVKTLSGHEGAVKCLFFDQWHLLSGSTDGLVMAWSMVGKYERCLMAFKHPKEVLDVSLLFLRVISACADGKIRIYNFFNGNCMKVIKANGRGDPVLSFFIQGNRISVCHISTFAKRINVGWNGIEPSATAQGGNASLTECAHVRLHIAGHLPASRLPVAAVQPMTGGMAPTTAPTHVLAMLILFSGV", "length": 752, "header": "sp|O95170-1|CDRT1_HUMAN Isoform 1 of F-box and WD repeat domain containing protein 10B OS=Homo sapiens OX=9606 GN=FBXW10B PE=2 SV=3 CANONICAL=O95170-1" }, "isoforms": [ { "isoform_ac": "A0A087WSX6-1", "url": "", "sequence": { "sequence": "MENLESRLKNAPYFRCEKGTDSIPLCRKCETRVLAWKIFSTKEWFCRINDISQRRFLVGILKQLNSLYLLHYFQNILQTTQGKDFIYNRSRIDLSKKEGKVVKSSLNQMLDKTVEQKMKEILYWFANSTQWTKANYTLLLLQMCNPKLLLTAANVIRVLFLREENNISGLNQDITDVCFSPEKDHSSKSATSQVYWTAKTQHTSLPLSKAPENEHFLGAASNPEEPWRNSLRCISEMNRLFSGKADITKPGYDPCNLLVDLDDIRDLSSGFSKYRDFIRYLPIHLSKYILRMLDRHTLNKCASVSQHWAAMAQQVKMDLSAHGFIQNQITFLQGSYTRGIDPNYANKVSIPVPKMVDDGKSMRVKHPKWKLRTKNEYNLWTAYQNEETQQVLMEERNVFCGTYNVRILSDTWDQNRVIHYSGGDLIAVSSNRKIHLLDIIQVKAIPVEFRGHAGSVRALFLCEEENFLLSGSYDLSIRYWDLKSGVCTRIFGGHQGTITCMDLCKNRLVSGGRDCQVKVWDVDTGKCLKTFRHKDPILATRINDTYIVSSCERGLVKVWHIAMAQLVKTLSGHEGAVKCLFFDQWHLLSGSTDGLVMAWSMVGKYERCLMAFKHPKEVLDVSLLFLRVISACADGKIRIYNFFNGNCMKVIKANGRGDPVLSFFIQGNSDHLRKTYLPVEWKTDGRRVRKKAEKSAGMCCNNPRKTDDGLKLKH", "length": 714, "header": "tr|A0A087WSX6-1|CDRT1_HUMAN Computationally mapped isoform of F-box and WD repeat domain containing protein 10B OS=Homo sapiens OX=9606 GN=FBXW10B PE=2 SV=1 CANONICAL=O95170-1" }, "locus": { "chromosome": "17", "start_pos": 15619512, "end_pos": 15568895, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000395667.7", "url": "https://www.ensembl.org/id/ENST00000395667.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000379026.2", "url": "https://www.ensembl.org/id/ENSP00000379026.2" } ] } }, { "isoform_ac": "I3L073-1", "url": "", "sequence": { "sequence": "XSKAPENEHFLGAASNPEEPWRNSLRCISEMNRLFSGKADITKPGYDPCNLLVDLDDIRDLSSGFSKYRDFIRYLPIHLSKYILSMLGCMRGFPRHLPSWPSSGVSGSIFFFFPGMLDRHTLNKCASVSQHWAAMAQQVKMDLSAHGFIQNQITFLQGSYTRGIDPNYANKVSIPVPKMVDDGKSMRVKHPKWKLRTKNEYNLWTAYQNEETQQVLMEERNVFCGTYNVRILSDTWDQNRVIHYSGGDLIAVSSNRKIHLLDIIQVKAIPVEFRGHAGSVRALFLCEEENFLLSGSYDLSI", "length": 301, "header": "tr|I3L073-1|I3L073_HUMAN Computationally mapped isoform of F-box and WD repeat domain containing 10B OS=Homo sapiens OX=9606 GN=FBXW10B PE=4 SV=2 CANONICAL=O95170-1" }, "locus": { "chromosome": "17", "start_pos": 15615694, "end_pos": 15605224, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000261644.8", "url": "https://www.ensembl.org/id/ENST00000261644.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000261644.8", "url": "https://www.ensembl.org/id/ENSP00000261644.8" } ] } }, { "isoform_ac": "J3KTF7-1", "url": "", "sequence": { "sequence": "MDLCKNRLVSGGRDCQVKVWDVDTGKCLKTFRHKDPILATRINDTYIVSSCERGLVKVWHIAMAQLVKNFSLPHQHIC", "length": 78, "header": "tr|J3KTF7-1|J3KTF7_HUMAN Computationally mapped isoform of F-box and WD repeat domain containing 10B OS=Homo sapiens OX=9606 GN=FBXW10B PE=4 SV=1 CANONICAL=O95170-1" }, "locus": { "chromosome": "17", "start_pos": 15598586, "end_pos": 15589198, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000583965.5", "url": "https://www.ensembl.org/id/ENST00000583965.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000462959.1", "url": "https://www.ensembl.org/id/ENSP00000462959.1" } ] } }, { "isoform_ac": "J3QLS4-1", "url": "", "sequence": { "sequence": "MDLCKNRLVSGGRDCQVKVWDVDTGKCLKTFRHKDPILATRINDTYIVSSCERGLVKVWHIAMAQLVKEALMAWSWPGAWWGSTSAA", "length": 87, "header": "tr|J3QLS4-1|CDRT1_HUMAN Computationally mapped isoform of F-box and WD repeat domain containing protein 10B OS=Homo sapiens OX=9606 GN=FBXW10B PE=2 SV=1 CANONICAL=O95170-1" }, "locus": { "chromosome": "17", "start_pos": 15598586, "end_pos": 15594770, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000571263.2", "url": "https://www.ensembl.org/id/ENST00000571263.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000463684.1", "url": "https://www.ensembl.org/id/ENSP00000463684.1" } ] } }, { "isoform_ac": "O95170-1", "url": "", "sequence": { "sequence": "MENLESRLKNAPYFRCEKGTDSIPLCRKCETRVLAWKIFSTKEWFCRINDISQRRFLVGILKQLNSLYLLHYFQNILQTTQGKDFIYNRSRIDLSKKEGKVVKSSLNQMLDKTVEQKMKEILYWFANSTQWTKANYTLLLLQMCNPKLLLTAANVIRVLFLREENNISGLNQDITDVCFSPEKDHSSKSATSQVYWTAKTQHTSLPLSKAPENEHFLGAASNPEEPWRNSLRCISEMNRLFSGKADITKPGYDPCNLLVDLDDIRDLSSGFSKYRDFIRYLPIHLSKYILRMLDRHTLNKCASVSQHWAAMAQQVKMDLSAHGFIQNQITFLQGSYTRGIDPNYANKVSIPVPKMVDDGKSMRVKHPKWKLRTKNEYNLWTAYQNEETQQVLMEERNVFCGTYNVRILSDTWDQNRVIHYSGGDLIAVSSNRKIHLLDIIQVKAIPVEFRGHAGSVRALFLCEEENFLLSGSYDLSIRYWDLKSGVCTRIFGGHQGTITCMDLCKNRLVSGGRDCQVKVWDVDTGKCLKTFRHKDPILATRINDTYIVSSCERGLVKVWHIAMAQLVKTLSGHEGAVKCLFFDQWHLLSGSTDGLVMAWSMVGKYERCLMAFKHPKEVLDVSLLFLRVISACADGKIRIYNFFNGNCMKVIKANGRGDPVLSFFIQGNRISVCHISTFAKRINVGWNGIEPSATAQGGNASLTECAHVRLHIAGHLPASRLPVAAVQPMTGGMAPTTAPTHVLAMLILFSGV", "length": 752, "header": "sp|O95170-1|CDRT1_HUMAN Isoform 1 of F-box and WD repeat domain containing protein 10B OS=Homo sapiens OX=9606 GN=FBXW10B PE=2 SV=3 CANONICAL=O95170-1" }, "locus": { "chromosome": "17", "start_pos": 15619512, "end_pos": 15588978, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000395906.8", "url": "https://www.ensembl.org/id/ENST00000395906.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000379242.4", "url": "https://www.ensembl.org/id/ENSP00000379242.4" } ] } }, { "isoform_ac": "O95170-2", "url": "", "sequence": { "sequence": "MDLCKNRLVSGGRDCQVKVWDVDTGKCLKTFRHKDPILATRINDTYIVSSCERGLVKVWHIAMAQLVKTLSGHEGAVKCLFFDQWHLLSGSTDGLVMAWSMVGKYERCLMAFKHPKEVLDVSLLFLRVISACADGKIRIYNFFNGNCMKVIKANGRGDPVLSFFIQGNRISVCHISTFAKRINVGWNGIEPSATAQGGNASLTECAHVRLHIAGHLPASRLPVAAVQPMTGGMAPTTAPTHVLAMLILFSGV", "length": 252, "header": "sp|O95170-2|CDRT1_HUMAN Isoform 2 of F-box and WD repeat domain containing protein 10B OS=Homo sapiens OX=9606 GN=FBXW10B PE=2 SV=3 CANONICAL=O95170-1" }, "locus": { "chromosome": "17", "start_pos": 15598586, "end_pos": 15588978, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000354433.7", "url": "https://www.ensembl.org/id/ENST00000354433.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000346416.3", "url": "https://www.ensembl.org/id/ENSP00000346416.3" } ] } }, { "isoform_ac": "Q9BXD7-1", "url": "", "sequence": { "sequence": "MSPDQFLLTVSALQHARNSGEFAYPCRPQTEITDVWGPSISYPRKVLNFKGKSIQRAVDRLRLSNPPIDVKRTSIPLEIQKLQPNLKISLHSPRAQSTIPEPMIIRSRFSGSLKGGDQVTSSIERAVCSTGPLTSMQVIKPNRMLAPQVGTATLSLKKERPRIYTALDPFRVNAEFVLLTVKEEKEHQEAKMKEYQARESTGVVDPGKASKAAWIRKIKGLPIDNFTKQGKTAAPELGQNVFI", "length": 243, "header": "tr|Q9BXD7-1|Q9BXD7_HUMAN Computationally mapped isoform of CMT duplicated region transcript 1 OS=Homo sapiens OX=9606 GN=FBXW10B PE=2 SV=1 CANONICAL=O95170-1" }, "locus": { "chromosome": "17", "start_pos": 15566264, "end_pos": 15565536, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000630868.1", "url": "https://www.ensembl.org/id/ENST00000630868.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000486674.1", "url": "https://www.ensembl.org/id/ENSP00000486674.1" } ] } } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [], "publication": [ { "title": "The 1.4-Mb CMT1A duplication/HNPP deletion genomic region reveals unique genome architectural features and provides insights into the recent evolution of new genes.", "journal": "Genome Res.", "date": "2001", "authors": "Inoue K, Dewar K, Katsanis N, Reiter L T, Lander E S, Devon K L, Wyman D W, Lupski J R, Birren B", "evidence": [ { "database": "UniProtKB", "id": "O95170", "url": "https://www.uniprot.org/uniprot/O95170" } ], "reference": [ { "type": "PubMed", "id": "11381029", "url": "https://glygen.org/publication/PubMed/11381029" } ] }, { "title": "The Charcot-Marie-Tooth binary repeat contains a gene transcribed from the opposite strand of a partially duplicated region of the COX10 gene.", "journal": "Genomics", "date": "1997", "authors": "Kennerson M L, Nassif N T, Dawkins J L, DeKroon R M, Yang J G, Nicholson G A", "evidence": [ { "database": "UniProtKB", "id": "O95170", "url": "https://www.uniprot.org/uniprot/O95170" } ], "reference": [ { "type": "PubMed", "id": "9403059", "url": "https://glygen.org/publication/PubMed/9403059" } ] }, { "title": "Genomic structure and physical mapping of C17orf1: a gene associated with the proximal element of the CMT1A-REP binary repeat.", "journal": "Genomics", "date": "1998", "authors": "Kennerson M L, Nassif N T, Nicholson G A", "evidence": [ { "database": "UniProtKB", "id": "O95170", "url": "https://www.uniprot.org/uniprot/O95170" } ], "reference": [ { "type": "PubMed", "id": "9787083", "url": "https://glygen.org/publication/PubMed/9787083" } ] } ], "pathway": [ { "id": "hsa:374286", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:374286", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "Q5SUS0-1", "protein_name": "F-box/WD repeat-containing protein 10", "gene_name": "Fbxw10", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MENREPKLKQAPYFRCEKGPNWVPVCQKCEACVLAWKIFATKEWFRRVNDISQRRFLVSILGQLNSLYLLQYFQNILETTQGKDFIYNRSRIKLSRKGGKEEEVVKSSLNQMLDKTVERKMKEILYWFGNSTHRTKANYTLLLLQMCDSNLLLTAANVIRVLFMKEWNSISGLHDDTPDVMFFPEKKYSGTQDTSYVSWAARPKPVSFPMSKHLGNKLGTENVDRETTEGKGESSLQCIHEMNRQIFGKGGMSRLGDDPCNLLLSLDHVQLLSSGYSKYRDFIRDLPLHLSKYILRMLDKHSLNRCIFVSQHWATLAQQVKVDQSMHSFIQNQISLLQVTKEEKQAYTGSYTRGIDPNYANKVSIPVPKIVDDGKRSRSKNQKWKLRTKTDYNLWNAYQNQETQLVQMEERNVFCGTYNIRVLSDTFDQNRIIHYNGGDLMAISSNRKIHLLDIMQTKELPIEFRGHAGSVRALFLSEEDNILLSGSYDLSIRYWDVKTGACVRIFYGHQGTITCLDVYKNRLVSGAKDGQVKEWDIETGKCLKTFKHKDPILAAKISETYIVSSCERGIVKVWHVVTAQLQKTLTGHEGAVKCLFFNEWHLVSGGADGLVMAWSMVGKYERCLMAFKHPKEVLQVSLLYLRVISACGDGKIRIYNFLNGNCLKVIKVDARGDPVLSFFYQGNRMVAHTDSNILVFQFENVKWQYSSDKNKVKKSKDKEEEREETSLGDEHSRSTIQGHSLKDSVSSKQEFSKSRVHLKQTKNLSSDDMETPVGEVSHPLQKLWKVPMTPDRFLLTISALQQAHNSEEFAYPHRPRPQVIDAWGPSIPYPRKVLSLKGKSVQHAVDQLRSSNLPTGVRQTNIPLEIQKLQPNLKKSLHSPRVQATVPQPSLIRPKVSDSLRGDEHLTSSIDGTMRRAGPLTSMQVIKPNRMLAPRGGTATLSPKKERPRFYTTLDPLRMNTGFMLMTVKEEKEFAEAKMKEYEASVSTKEVDPGKASKAAWIRKIKGLPIDNFMKEGKTAAPELGQNVFI", "length": 1030 }, "evidence": [ { "id": "45923150", "url": "http://www.informatics.jax.org/homology/45923150", "database": "MGI" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "Q5XX13-1", "protein_name": "F-box/WD repeat-containing protein 10", "gene_name": "FBXW10", "tax_id": 9606, "organism": "Homo sapiens", "sequence": { "sequence": "MENLESRLKNAPYFRCEKGTDSIPLCRKCETCVLAWKIFSTKEWFCRINDISQRRFLVGILKQLNSLYLLHYFQNILQTTQGKDFIYNRSRINLSKKEGKVVKSSLNQMLDKTVEQKMKEILYWFANSTQWTKANYTLLLLQMCNPKLLLTAANVIRVLFLREENNISGLNQDITDVCFSPEKDHSSKSATSQVYWTAKTQHTSLPLSKAPENEHLLGAASNPEEPWRNSLRCISEMNRLFSGKGDITKPGYDPCNLLVDLDDIRDLSSGFSKYRDFIRYLPIHLSKYILRMLDRHTLNKCASVSQHWAAMAQQVKMDLSAHGFIQNQITFLQGSYTRGIDPNYANKVSIPVPKMVDDGKSMRVKHPKWKLRTKNEYNLWTAYQNEETQQVLIEERNVFCGTYNVRILSDTWDQNRVIHYSGGDLIAVSSNRKIHLLDIIQVKAIPVEFRGHAGSVRALFLCEEENFLLSGSYDLSIRYWDLKSGVCTRIFGGHQGTITCMDLCKNRLVSGGRDCQVKVWDVDTGKCLKTFRHKDPILATRINDTYIVSSCERGLVKVWHIAMAQLVKTLSGHEGAVKCLFFDQWHLLSGSTDGLVMAWSMVGKYERCLMAFKHPKEVLDVSLLFLRVISACADGKIRIYNFLNGNCMKVLKANGRGDPVLSFFIQGNRMVVNTESNVLMFQFEHIKWQYAVEKTKQKKNKEKEEEKEENSLMEILSKCNIQVHSPRESVSSKQTVIQELLPGKPPKSRVLLKPAKFSSAVLIEELQSQGKSKSPRRDADDVEKAQKQGQLETPGKLPSHPKKKSWKIPMSPDQFLLTVSALQHAHNSGEFAYPCRPQTEITDVWGPSISYPRKVLNFKGKSIQRAVDRLRLSNPPIDVKRTSIPLEIQKLQPNLKISLHSPRVQSTIPQPMIIRSRFSGSLKGGDQVTSSIERAVCSTGPLTSMQVIKPNRMLAPQVGTATLSLKKERPRIYTALDPFRVNTEFVLLTVKEEKEHQEAKMKEYQARESTGVVDPGKVSKAAWIRKIKGLPIDNFTKQGKTAAPELGQNVFI", "length": 1052 }, "evidence": [ { "id": "45923150", "url": "http://www.informatics.jax.org/homology/45923150", "database": "MGI" } ], "common_name": "Human" } ], "go_annotation": {}, "pro_annotation": [], "site_annotation": [ { "start_pos": 127, "end_pos": 129, "annotation": "n_glycosylation_sequon" }, { "start_pos": 135, "end_pos": 137, "annotation": "n_glycosylation_sequon" }, { "start_pos": 166, "end_pos": 168, "annotation": "n_glycosylation_sequon" }, { "start_pos": 543, "end_pos": 545, "annotation": "n_glycosylation_sequon" }, { "start_pos": 699, "end_pos": 701, "annotation": "n_glycosylation_sequon" }, { "start_pos": 88, "end_pos": 90, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [], "snv_sites": [ 236, 245, 378, 643, 644, 708 ], "glycation_sites": [], "phosphorylation_sites": [], "sequon_annotation_sites": [ { "start_pos": 127, "end_pos": 129 }, { "start_pos": 135, "end_pos": 137 }, { "start_pos": 166, "end_pos": 168 }, { "start_pos": 543, "end_pos": 545 }, { "start_pos": 699, "end_pos": 701 }, { "start_pos": 88, "end_pos": 90 } ] }, "section_stats": [ { "table_id": "glycosylation", "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", "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": 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_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": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 6 }, { "field": "total_sites", "count": 6 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 6 }, { "field": "total_sites", "count": 6 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }