{ "uniprot_canonical_ac": "A5PLK6-1", "uniprot_ac": "A5PLK6", "uniprot_id": "RGSL_HUMAN", "mass": { "chemical_mass": 125688.0, "monoisotopic_mass": 125688.0 }, "refseq": { "ac": "NP_001131141", "name": "regulator of G-protein signaling protein-like isoform 1", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001131141" }, "gene_names": [ { "name": "RGSL1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/A5PLK6", "id": "A5PLK6" }, { "name": "RGSL2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A5PLK6", "id": "A5PLK6" }, { "name": "RGSL", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A5PLK6", "id": "A5PLK6" } ], "protein_names": [ { "name": "Regulator of G-protein signaling protein-like", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/A5PLK6#names_and_taxonomy", "id": "A5PLK6" }, { "name": "regulator of G-protein signaling like 2; regulator of G-protein signaling protein-like", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001131141", "id": "NP_001131141" }, { "name": "regulator of G-protein signaling protein-like isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001131141", "id": "NP_001131141" } ], "function": [ { "annotation": "A detailed mapping of the breakpoints revealed intragenic microdeletions affecting the coding regions of RGSL2, RGSL1.", "evidence": [ { "database": "RefSeq", "id": "NP_001131141", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001131141" }, { "database": "PubMed", "id": "18521847", "url": "https://glygen.org/publication/PubMed/18521847" } ] }, { "annotation": "Data indicate that multiplex ligation-dependent probe amplification (MLPA) probes (Fig. 2) corresponding to the RGSL2, RGSL1 and RGS16 genes showed 64.5 % tumour samples with copy number gains and 5 % tumour samples with copy number losses.", "evidence": [ { "database": "RefSeq", "id": "NP_001131141", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001131141" }, { "database": "PubMed", "id": "23248035", "url": "https://glygen.org/publication/PubMed/23248035" } ] }, { "annotation": "Missense mutations in RGSL1 gene is associated with breast cancer.", "evidence": [ { "database": "RefSeq", "id": "NP_001131141", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001131141" }, { "database": "PubMed", "id": "21135262", "url": "https://glygen.org/publication/PubMed/21135262" } ] }, { "annotation": "Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001131141", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001131141" }, { "database": "PubMed", "id": "20574532", "url": "https://glygen.org/publication/PubMed/20574532" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "A5PLK6", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A5PLK6" } ], "glycoeffect": [], "start_pos": 683, "end_pos": 683, "subjects_tested": "50", "subjects_positive": "1", "frequency": "2.0", "sequence_org": "I", "sequence_mut": "V", "comment": "Somatic mutation passed 2 out of 6 filters: patient freq. 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"http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] }, { "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": "bladder cancer", "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 bladder neoplasm", "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 neoplasm of bladder", "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 urinary bladder neoplasm", "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": "urinary bladder malignant neoplasm", "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": "cancer of urinary bladder", "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": "malignant neoplasm of urinary 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": "tumor of the 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 urinary bladder tumor", "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": "malignant neoplasm, bladder", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "A5PLK6", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A5PLK6" } ], 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In dbSNP: rs557155006.", "chr_id": "1", "chr_pos": "182523821", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "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": "LNCR1", "description": "" }, { "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 1; 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LNCR3", "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": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5; 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": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "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 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": "malignant neoplasm of the lung", "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": "Nonsmall cell lung cancer", "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": "lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "A5PLK6", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A5PLK6" } ], "glycoeffect": [], "start_pos": 222, "end_pos": 222, "subjects_tested": "1144", "subjects_positive": "2", "frequency": "0.2", "sequence_org": "V", "sequence_mut": "I", "comment": "Somatic mutation passed 1 out of 6 filters: Lit. mined (1). In dbSNP: rs201581081.", "chr_id": "1", "chr_pos": "182442910", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "A5PLK6", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A5PLK6" } ], "glycoeffect": [], "start_pos": 256, "end_pos": 256, "subjects_tested": "50", "subjects_positive": "1", "frequency": "2.0", "sequence_org": "W", "sequence_mut": "C", "comment": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%).", "chr_id": "1", "chr_pos": "182443014", "ref_nt": "G", "alt_nt": "C", "minor_allelic_frequency": "", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] }, { "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": "LNCR1", "description": "" }, { "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 1; LNCR1", "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; LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3; LNCR3", "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": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5; 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": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "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 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": "malignant neoplasm of the lung", "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": "Nonsmall cell lung cancer", "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": "lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "A5PLK6", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A5PLK6" } ], "glycoeffect": [], "start_pos": 286, "end_pos": 286, "subjects_tested": "94", "subjects_positive": "1", "frequency": "1.1", "sequence_org": "E", "sequence_mut": "*", "comment": "Somatic mutation passed 1 out of 6 filters: patient freq. (1.1%).", "chr_id": "1", "chr_pos": "182443102", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "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:0023113", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023113", "name": "familial colorectal cancer", "description": "Familial colon cancer is a cluster of colon cancer within a family. Most cases ofcolon cancer occur sporadically in people with little to no family history of the condition. Approximately 3-5% of colon cancer is considered 'hereditary' and is thought to be caused by an inherited predisposition tocolon cancer that is passed down through a family in an autosomal dominant or autosomal recessive manner. In some of these families, the underlying genetic cause is not known; however, many of these cases are caused by changes ( mutations ) in the APC , MYH , MLH1 , MSH2 , MSH6 , PMS2 , EPCAM , PTEN , STK11 , SMAD4 , BMPR1A , NTHL1 , POLE , and POLD1 genes (which are associated with hereditary cancer syndromes). An additional 10-30% of people diagnosed with colon cancer have a significant family history of the condition but have no identifiable mutation in a gene known to cause a hereditary predisposition to colon cancer. These clusters of colon cancer are likely due to a combination of gene(s) and other shared factors such as environment and lifestyle. High-risk cancer screening and other preventative measures such as prophylactic surgeries are typically recommended in people who have an increased risk for colon cancer based on their personal and/or family histories." }, { "id": "MONDO:0023113", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023113", "name": "hereditary colorectal cancer", "description": "" }, { "id": "MONDO:0023113", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023113", "name": "colorectal cancer, familial", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "A5PLK6", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A5PLK6" } ], "glycoeffect": [], "start_pos": 420, "end_pos": 420, "subjects_tested": "93", "subjects_positive": "1", "frequency": "1.1", "sequence_org": "G", "sequence_mut": "W", "comment": "Somatic mutation passed 1 out of 6 filters: patient freq. (1.1%).", "chr_id": "1", "chr_pos": "182443504", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "disease": [ { "disease_id": "DOID:2394", "recommended_name": { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary." }, "synonyms": [ { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "malignant Ovarian tumor", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "malignant tumour of ovary", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovarian neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovary neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "primary ovarian cancer", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "tumor of the Ovary", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "OVCAS1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "OVCAS1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1; OVCAS1", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. 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(4.0%).", "chr_id": "1", "chr_pos": "182458123", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12; 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"https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2; HPCX2", "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": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10; HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "A5PLK6", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A5PLK6" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body 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": "gastric neoplasm", "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 lesser curve of stomach", "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 neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", 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"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": "malignant stomach neoplasm", "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 gastric neoplasm", "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 neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "A5PLK6", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A5PLK6" } ], "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": "bladder cancer", "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 bladder neoplasm", "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 neoplasm of bladder", "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 urinary bladder neoplasm", "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": "urinary bladder malignant neoplasm", "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": "cancer of urinary bladder", "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": 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A5PLK6" } ], "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": "LNCR1", "description": "" }, { "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 1; LNCR1", "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; LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3; LNCR3", "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": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5; 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": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "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 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": "malignant neoplasm of the lung", "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": "Nonsmall cell lung cancer", "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": "lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "A5PLK6", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A5PLK6" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Thyroid gland cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "A5PLK6", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A5PLK6" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland 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 neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "A5PLK6", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A5PLK6" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "A5PLK6", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A5PLK6" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "A5PLK6", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A5PLK6" } ], "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "A5PLK6", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A5PLK6" } ], "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Escc, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "gastric cardia adenocarcinoma, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Aerodigestive tract cancer, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Colorectal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:9256", "evidence": [ { "database": "BioXpress", "id": "A5PLK6", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A5PLK6" } ], "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:0023113", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023113", "name": "familial colorectal cancer", "description": "Familial colon cancer is a cluster of colon cancer within a family. Most cases ofcolon cancer occur sporadically in people with little to no family history of the condition. Approximately 3-5% of colon cancer is considered 'hereditary' and is thought to be caused by an inherited predisposition tocolon cancer that is passed down through a family in an autosomal dominant or autosomal recessive manner. In some of these families, the underlying genetic cause is not known; however, many of these cases are caused by changes ( mutations ) in the APC , MYH , MLH1 , MSH2 , MSH6 , PMS2 , EPCAM , PTEN , STK11 , SMAD4 , BMPR1A , NTHL1 , POLE , and POLD1 genes (which are associated with hereditary cancer syndromes). An additional 10-30% of people diagnosed with colon cancer have a significant family history of the condition but have no identifiable mutation in a gene known to cause a hereditary predisposition to colon cancer. These clusters of colon cancer are likely due to a combination of gene(s) and other shared factors such as environment and lifestyle. High-risk cancer screening and other preventative measures such as prophylactic surgeries are typically recommended in people who have an increased risk for colon cancer based on their personal and/or family histories." }, { "id": "MONDO:0023113", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023113", "name": "hereditary colorectal cancer", "description": "" }, { "id": "MONDO:0023113", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023113", "name": "colorectal cancer, familial", "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": "A5PLK6", "url": "https://www.uniprot.org/uniprot/A5PLK6" } ], "common_name": "Human" } ], "gene": [ { "name": "RGSL1", "url": "https://www.uniprot.org/uniprot/A5PLK6", "locus": { "chromosome": "1", "start_pos": 182409192, "end_pos": 182560599, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000121446", "url": "https://www.ensembl.org/id/ENSG00000121446" } ] } } ], "crossref": [ { "id": "ENSG00000121446", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000121446", "database": "Bgee" }, { "id": "A5PLK6", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A5PLK6", "database": "BioMuta" }, { "id": "RGSL1", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=RGSL1", "database": "GeneCards" }, { "id": "353299", "url": "https://www.ncbi.nlm.nih.gov/gene/353299", "database": "GeneID" }, { "id": "18636", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=18636", "database": "HGNC" }, { "id": "A5PLK6", "url": "https://www.ebi.ac.uk/intact/interactors/id:A5PLK6*", "database": "IntAct" }, { "id": "IPR016137", "url": "https://www.ebi.ac.uk/interpro/entry/IPR016137", "database": "InterPro" }, { "id": "IPR036305", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036305", "database": "InterPro" }, { "id": "hsa:353299", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:353299", "database": "KEGG Pathway" }, { "id": "611012", "url": "http://www.omim.org/entry/611012", "database": "MIM" }, { "id": "611013", "url": "http://www.omim.org/entry/611013", "database": "MIM" }, { "id": "NX_A5PLK6", "url": "https://www.nextprot.org/entry/NX_A5PLK6", "database": "neXtProt" }, { "id": "SVCYTHV", "url": "https://omabrowser.org/oma/group/SVCYTHV/", "database": "OMA" }, { "id": "204702at2759", "url": "http://www.orthodb.org/?query=204702at2759", "database": "OrthoDB" }, { "id": "PF00615", "url": "http://pfam.xfam.org/family/PF00615", "database": "Pfam" }, { "id": "A5PLK6", "url": "https://pharos.nih.gov/targets/A5PLK6", "database": "PHAROS" }, { "id": "PR_A5PLK6", "url": "http://purl.obolibrary.org/obo/PR_A5PLK6", "database": "PRO" }, { "id": "R-HSA-416476", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-416476", "database": "Reactome" }, { "id": "R-HSA-418594", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418594", "database": "Reactome" }, { "id": "R-HSA-418597", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418597", "database": "Reactome" }, { "id": "NP_001131141", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001131141", "database": "RefSeq" }, { "id": "XP_011507798", "url": "https://www.ncbi.nlm.nih.gov/protein/XP_011507798", "database": "RefSeq" }, { "id": "A0A0U1RQD8", "url": "https://www.uniprot.org/uniprot/A0A0U1RQD8", "database": "UniProtKB" }, { "id": "A0A0U1RQD8-1", "url": "https://www.uniprot.org/uniprot/A0A0U1RQD8-1", "database": "UniProtKB" }, { "id": "A0A0U1RRA3", "url": "https://www.uniprot.org/uniprot/A0A0U1RRA3", "database": "UniProtKB" }, { "id": "A0A0U1RRA3-1", "url": "https://www.uniprot.org/uniprot/A0A0U1RRA3-1", "database": "UniProtKB" }, { "id": "A0A0U1RRF3", "url": "https://www.uniprot.org/uniprot/A0A0U1RRF3", "database": "UniProtKB" }, { "id": "A0A0U1RRF3-1", "url": "https://www.uniprot.org/uniprot/A0A0U1RRF3-1", "database": "UniProtKB" }, { "id": "A0A0U1RRF6", "url": "https://www.uniprot.org/uniprot/A0A0U1RRF6", "database": "UniProtKB" }, { "id": "A0A0U1RRF6-1", "url": "https://www.uniprot.org/uniprot/A0A0U1RRF6-1", "database": "UniProtKB" }, { "id": "A0A0U1RRG0", "url": "https://www.uniprot.org/uniprot/A0A0U1RRG0", "database": "UniProtKB" }, { "id": "A0A0U1RRG0-1", "url": "https://www.uniprot.org/uniprot/A0A0U1RRG0-1", "database": "UniProtKB" }, { "id": "A0A0U1RRN0", "url": "https://www.uniprot.org/uniprot/A0A0U1RRN0", "database": "UniProtKB" }, { "id": "A0A0U1RRN0-1", "url": "https://www.uniprot.org/uniprot/A0A0U1RRN0-1", "database": "UniProtKB" }, { "id": "A0A3B3ISC9", "url": "https://www.uniprot.org/uniprot/A0A3B3ISC9", "database": "UniProtKB" }, { "id": "A0A3B3ISC9-1", "url": "https://www.uniprot.org/uniprot/A0A3B3ISC9-1", "database": "UniProtKB" }, { "id": "A5PLK6", "url": "https://www.uniprot.org/uniprot/A5PLK6", "database": "UniProtKB" }, { "id": "A5PLK6-1", "url": "https://www.uniprot.org/uniprot/A5PLK6-1", "database": "UniProtKB" }, { "id": "A5PLK6-2", "url": "https://www.uniprot.org/uniprot/A5PLK6-2", "database": "UniProtKB" }, { "id": "A5PLK6-3", "url": "https://www.uniprot.org/uniprot/A5PLK6-3", "database": "UniProtKB" }, { "id": "A5PLK6-4", "url": "https://www.uniprot.org/uniprot/A5PLK6-4", "database": "UniProtKB" }, { "id": "A5PLK6-5", "url": "https://www.uniprot.org/uniprot/A5PLK6-5", "database": "UniProtKB" }, { "id": "A5PLK6-6", "url": "https://www.uniprot.org/uniprot/A5PLK6-6", "database": "UniProtKB" }, { "id": "H3BNQ0", "url": "https://www.uniprot.org/uniprot/H3BNQ0", "database": "UniProtKB" }, { "id": "H3BNQ0-1", "url": "https://www.uniprot.org/uniprot/H3BNQ0-1", "database": "UniProtKB" }, { "id": "H3BNR3", "url": "https://www.uniprot.org/uniprot/H3BNR3", "database": "UniProtKB" }, { "id": "H3BNR3-1", "url": "https://www.uniprot.org/uniprot/H3BNR3-1", "database": "UniProtKB" }, { "id": "H3BNS3", "url": "https://www.uniprot.org/uniprot/H3BNS3", "database": "UniProtKB" }, { "id": "H3BNS3-1", "url": "https://www.uniprot.org/uniprot/H3BNS3-1", "database": "UniProtKB" }, { "id": "H3BRN5", "url": "https://www.uniprot.org/uniprot/H3BRN5", "database": "UniProtKB" }, { "id": "H3BRN5-1", "url": "https://www.uniprot.org/uniprot/H3BRN5-1", "database": "UniProtKB" }, { "id": "H3BU64", "url": "https://www.uniprot.org/uniprot/H3BU64", "database": "UniProtKB" }, { "id": "H3BU64-1", "url": "https://www.uniprot.org/uniprot/H3BU64-1", "database": "UniProtKB" }, { "id": "H3BVE8", "url": "https://www.uniprot.org/uniprot/H3BVE8", "database": "UniProtKB" }, { "id": "H3BVE8-1", "url": "https://www.uniprot.org/uniprot/H3BVE8-1", "database": "UniProtKB" } ], "sequence": { "sequence": "MSSAEIIGSTNLIILLEDEVFADFFNTFLSLPVFGQTPFYTVENSQWSLWPEIPCNLIAKYKGLLTWLEKCRLPFFCKTNLCFHYILCQEFISFIKSPEGGEELVDFWILAENILSIDEMDLEVRDYYLSLLLMLRATHLQEGSRVVTLCNMNIKSLLNLSIWHPNQSTTRREILSHMQKVALFKLQSYWLPNFYTHTKMTMAKEEACHGLMQEYETRLYSVCYTHIGGLPLNMSIKKCHHFQKRYSSRKAKRKMWQLVDPDSWSLEMDLKPDAIGMPLQETCPQEKVVIQMPSLKMASSKETRISSLEKDMHYAKISSMENKAKSHLHMEAPFETKVSTHLRTVIPIVNHSSKMTIQKAIKQSFSLGYIHLALCADACAGNPFRDHLKKLNLKVEIQLLDLWQDLQHFLSVLLNNKKNGNAIFRHLLGDRICELYLNEQIGPCLPLKSQTIQGLKELLPSGDVIPWIPKAQKEICKMLSPWYDEFLDEEDYWFLLFTTQNRFISSRQHKREFIGKEENILLYKRIQQSLELSQALADMKEMDYRQWRKIATEDLKQGGSLQVELTSPVFLTDITKMSFEELCYKNPKMAIQKISDDYKIYCEKAPKIDFKMEIIKETKTVSRSNRKMSLLKRTLVRKPSMRPRNLTEVLLNTQHLEFFREFLKERKAKIPLQFLTAVQKISIETNEKICKSLIENVIKTFFQGQLSPEEMLQCDAPIIKEIASMRHVTTSTLLTLQGHVMKSIEEKWFKDYQDLFPPHHQEVEVQSEVQISSRKPSKIVSTYLQESQKKGWMRMISFIRSFCKYRRFMLNPSKRQEFEDYLHQEMQNSKENFTTAHNTSGRSAPPSTNVRSADQENGEITLVKRRIFGHRIITVNFAINDLYFFSEMEKFNDLVSSAHMLQVNRAYNENDVILMRSKMNIIQKLFLNSDIPPKLRVNVPEFQKDAILAAITEGYLDRSVFHGAIMSVFPVVMYFWKRFCFWKATRSYLQYRGKKFKDRKSPPKSTDKYPFSSGGDNAILRFTLLRGIEWLQPQREAISSVQNSSSSKLTQPRLVVSAMQLHPVQGQKLSYIKKEK", "length": 1076, "header": "sp|A5PLK6-1|RGSL_HUMAN Isoform 1 of Regulator of G-protein signaling protein-like OS=Homo sapiens OX=9606 GN=RGSL1 PE=2 SV=1 CANONICAL=A5PLK6-1" }, "isoforms": [ { "isoform_ac": "A0A0U1RQD8-1", "url": "https://www.uniprot.org/uniprot/A5PLK6#A0A0U1RQD8-1", "sequence": { "sequence": "MQKVALFKLQSYWLPNFYTHTKMTMAKEEACHGLMQEYETRLYSVCYTHIGGLPLNMSIKKCHHFQKRYSSRKAKRKMWQL", "length": 81, "header": "tr|A0A0U1RQD8-1|A0A0U1RQD8_HUMAN Computationally mapped isoform of Regulator of G-protein-signaling protein-like OS=Homo sapiens OX=9606 GN=RGSL1 PE=4 SV=1 CANONICAL=A5PLK6-1" }, "locus": { "chromosome": "1", "start_pos": 182473885, "end_pos": 182473643, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000634758", "url": "https://www.ensembl.org/id/ENST00000634758" }, { "database": "Ensembl Peptide", "id": "ENSP00000488942", "url": "https://www.ensembl.org/id/ENSP00000488942" } ] } }, { "isoform_ac": "A0A0U1RRA3-1", "url": "https://www.uniprot.org/uniprot/A5PLK6#A0A0U1RRA3-1", "sequence": { "sequence": "MSSAEIIGSTNLIILLEDEVFADFFNTFLSLPLCFAGFWSDTILYC", "length": 46, "header": "tr|A0A0U1RRA3-1|A0A0U1RRA3_HUMAN Computationally mapped isoform of Regulator of G-protein-signaling protein-like OS=Homo sapiens OX=9606 GN=RGSL1 PE=4 SV=1 CANONICAL=A5PLK6-1" }, "locus": { "chromosome": "1", "start_pos": 182458347, "end_pos": 182450166, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000635407", "url": "https://www.ensembl.org/id/ENST00000635407" }, { "database": "Ensembl Peptide", "id": "ENSP00000489421", "url": "https://www.ensembl.org/id/ENSP00000489421" } ] } }, { "isoform_ac": "A0A0U1RRF3-1", "url": "https://www.uniprot.org/uniprot/A5PLK6#A0A0U1RRF3-1", "sequence": { "sequence": "MMRWKKADQWLLQKCIGGVRGMWRFYSYLTG", "length": 31, "header": "tr|A0A0U1RRF3-1|A0A0U1RRF3_HUMAN Computationally mapped isoform of Regulator of G-protein-signaling protein-like OS=Homo sapiens OX=9606 GN=RGSL1 PE=4 SV=1 CANONICAL=A5PLK6-1" }, "locus": { "chromosome": "1", "start_pos": 182471379, "end_pos": 182471287, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000634626", "url": "https://www.ensembl.org/id/ENST00000634626" }, { "database": "Ensembl Peptide", "id": "ENSP00000489498", "url": "https://www.ensembl.org/id/ENSP00000489498" } ] } }, { "isoform_ac": "A0A0U1RRF6-1", "url": "https://www.uniprot.org/uniprot/A5PLK6#A0A0U1RRF6-1", "sequence": { "sequence": "MDLEVRDYYLSLLLMLRATHLQEGSRVVTLCNMNIKSLLNLSIWHPNQSTTRREILSHMQKVALFKLQSYWLPNFYTHTKMTMAKEEACHGLMQEYETRLYSVCYTHIGGLPLNMSIKKCHHFQKRYSSRKAKRKMWQLVDPDSWSLEMDLKPDAIGMPLQETCPQ", "length": 166, "header": "tr|A0A0U1RRF6-1|A0A0U1RRF6_HUMAN Computationally mapped isoform of Regulator of G-protein-signaling protein-like OS=Homo sapiens OX=9606 GN=RGSL1 PE=4 SV=1 CANONICAL=A5PLK6-1" }, "locus": { "chromosome": "1", "start_pos": 182473966, "end_pos": 182472452, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000634679", "url": "https://www.ensembl.org/id/ENST00000634679" }, { "database": "Ensembl Peptide", "id": "ENSP00000489502", "url": "https://www.ensembl.org/id/ENSP00000489502" } ] } }, { "isoform_ac": "A0A0U1RRG0-1", "url": "https://www.uniprot.org/uniprot/A5PLK6#A0A0U1RRG0-1", "sequence": { "sequence": "XRFTLLRGIEWLQPQREAISSVQNSSSSKLTQPRLVVSAMQLHPVQGNLIQPIQTKG", "length": 57, "header": "tr|A0A0U1RRG0-1|RGSL_HUMAN Computationally mapped isoform of Regulator of G-protein signaling protein-like OS=Homo sapiens OX=9606 GN=RGSL1 PE=2 SV=1 CANONICAL=A5PLK6-1" }, "locus": { "chromosome": "1", "start_pos": 182560310, "end_pos": 182553470, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000634801", "url": "https://www.ensembl.org/id/ENST00000634801" }, { "database": "Ensembl Peptide", "id": "ENSP00000489508", "url": "https://www.ensembl.org/id/ENSP00000489508" } ] } }, { "isoform_ac": "A0A0U1RRN0-1", "url": "https://www.uniprot.org/uniprot/A5PLK6#A0A0U1RRN0-1", "sequence": { "sequence": "MMRWKKADQWLLQKCIGGVRGMWRFYSYLTGSAGEEL", "length": 37, "header": "tr|A0A0U1RRN0-1|A0A0U1RRN0_HUMAN Computationally mapped isoform of Regulator of G-protein-signaling protein-like OS=Homo sapiens OX=9606 GN=RGSL1 PE=4 SV=2 CANONICAL=A5PLK6-1" }, "locus": { "chromosome": "1", "start_pos": 182472406, "end_pos": 182471287, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000634723", "url": "https://www.ensembl.org/id/ENST00000634723" }, { "database": "Ensembl Peptide", "id": "ENSP00000489611", "url": "https://www.ensembl.org/id/ENSP00000489611" } ] } }, { "isoform_ac": "A0A3B3ISC9-1", "url": "https://www.uniprot.org/uniprot/A5PLK6#A0A3B3ISC9-1", "sequence": { "sequence": "MLSPWYDEFLDEEDYWFLLFTTQNRFISSRQHKREFIGKEENILLYKRIQQSLELSQALADMKEMDYRQWRKIATEDLKQGGSLQVELTSPVFLTDITKMSFEELCYKNPKMAIQKISDDYKIYCEKAPKIDFKMEIIKETKTVSRSNRKMSLLKRTLVRKPSMRPRNLTEVLLNTQHLEFFREFLKERKAKIPLQFLTAVQKISIETNEKICKSLIENVIKTFFQGQLSPEEMLQCDAPIIKEIASMRHVTTSTLLTLQGHVMKSIEEK", "length": 270, "header": "tr|A0A3B3ISC9-1|A0A3B3ISC9_HUMAN Computationally mapped isoform of Regulator of G-protein-signaling protein-like OS=Homo sapiens OX=9606 GN=RGSL1 PE=1 SV=1 CANONICAL=A5PLK6-1" }, "locus": { "chromosome": "1", "start_pos": 182530361, "end_pos": 182488285, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000648414", "url": "https://www.ensembl.org/id/ENST00000648414" }, { "database": "Ensembl Peptide", "id": "ENSP00000497245", "url": "https://www.ensembl.org/id/ENSP00000497245" } ] } }, { "isoform_ac": "A5PLK6-1", "url": "https://www.uniprot.org/uniprot/A5PLK6#A5PLK6-1", "sequence": { "sequence": "MSSAEIIGSTNLIILLEDEVFADFFNTFLSLPVFGQTPFYTVENSQWSLWPEIPCNLIAKYKGLLTWLEKCRLPFFCKTNLCFHYILCQEFISFIKSPEGGEELVDFWILAENILSIDEMDLEVRDYYLSLLLMLRATHLQEGSRVVTLCNMNIKSLLNLSIWHPNQSTTRREILSHMQKVALFKLQSYWLPNFYTHTKMTMAKEEACHGLMQEYETRLYSVCYTHIGGLPLNMSIKKCHHFQKRYSSRKAKRKMWQLVDPDSWSLEMDLKPDAIGMPLQETCPQEKVVIQMPSLKMASSKETRISSLEKDMHYAKISSMENKAKSHLHMEAPFETKVSTHLRTVIPIVNHSSKMTIQKAIKQSFSLGYIHLALCADACAGNPFRDHLKKLNLKVEIQLLDLWQDLQHFLSVLLNNKKNGNAIFRHLLGDRICELYLNEQIGPCLPLKSQTIQGLKELLPSGDVIPWIPKAQKEICKMLSPWYDEFLDEEDYWFLLFTTQNRFISSRQHKREFIGKEENILLYKRIQQSLELSQALADMKEMDYRQWRKIATEDLKQGGSLQVELTSPVFLTDITKMSFEELCYKNPKMAIQKISDDYKIYCEKAPKIDFKMEIIKETKTVSRSNRKMSLLKRTLVRKPSMRPRNLTEVLLNTQHLEFFREFLKERKAKIPLQFLTAVQKISIETNEKICKSLIENVIKTFFQGQLSPEEMLQCDAPIIKEIASMRHVTTSTLLTLQGHVMKSIEEKWFKDYQDLFPPHHQEVEVQSEVQISSRKPSKIVSTYLQESQKKGWMRMISFIRSFCKYRRFMLNPSKRQEFEDYLHQEMQNSKENFTTAHNTSGRSAPPSTNVRSADQENGEITLVKRRIFGHRIITVNFAINDLYFFSEMEKFNDLVSSAHMLQVNRAYNENDVILMRSKMNIIQKLFLNSDIPPKLRVNVPEFQKDAILAAITEGYLDRSVFHGAIMSVFPVVMYFWKRFCFWKATRSYLQYRGKKFKDRKSPPKSTDKYPFSSGGDNAILRFTLLRGIEWLQPQREAISSVQNSSSSKLTQPRLVVSAMQLHPVQGQKLSYIKKEK", "length": 1076, "header": "sp|A5PLK6-1|RGSL_HUMAN Isoform 1 of Regulator of G-protein signaling protein-like OS=Homo sapiens OX=9606 GN=RGSL1 PE=2 SV=1 CANONICAL=A5PLK6-1" }, "locus": { "chromosome": "1", "start_pos": 182556054, "end_pos": 182450166, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000294854", "url": "https://www.ensembl.org/id/ENST00000294854" }, { "database": "Ensembl Peptide", "id": "ENSP00000457748", "url": "https://www.ensembl.org/id/ENSP00000457748" } ] } }, { "isoform_ac": "A5PLK6-2", "url": "https://www.uniprot.org/uniprot/A5PLK6#A5PLK6-2", "sequence": { "sequence": "MLSPWYDEFLDEEDYWFLLFTTQNRFISSRQHKREFIGKEENILLYKRIQQSLELSQALADMKEMDYRQWRKIATEDLKQGGSLQVELTSPVFLTDITKMSFEELCYKNPKMAIQKISDDYKIYCEKAPKIDFKMEIIKETKTVSRSNRKMSLLKRTLVRKPSMRPRNLTEVLLNTQHLEFFREFLKERKAKIPLQFLTAVQKISIETNEKICKSLIENVIKTFFQGQLSPEEMLQCDAPIIKEIASMRHVTTSTLLTLQGHVMKSIEEKWFKDYQDLFPPHHQEVEVQSEVQISSRKPSKIVSTYLQESQKKGWMRMISFIRSFCKYRRFMLNPSKRQEFEDYLHQEMQNSKENFTTAHNTSGRSAPPSTNVRSADQENGEITLVKRRIFGHRIITVNFAINDLYFFSEMEKFNDLVSSAHMLQVNRAYNENDVILMRSKMNIIQKLFLNSDIPPKLRVNVPEFQKDAILAAITEGYLDRSVFHGAIMSVFPVVMYFWKRFCFWKATRSYLQYRGKKFKDRKSPPKSTDKYPFSSGGDNAILRFTLLRGIEWLQPQREAISSVQNSSSSKLTQPRLVVSAMQLHPVQGQKLSYIKKEK", "length": 599, "header": "sp|A5PLK6-2|RGSL_HUMAN Isoform 2 of Regulator of G-protein signaling protein-like OS=Homo sapiens OX=9606 GN=RGSL1 PE=2 SV=1 CANONICAL=A5PLK6-1" }, "locus": {} }, { "isoform_ac": "A5PLK6-3", "url": "https://www.uniprot.org/uniprot/A5PLK6#A5PLK6-3", "sequence": { "sequence": "MSFEELCYKNPKMAIQKISDDYKIYCEKAPKIDFKMEIIKETKTVSRSNRKMSLLKRTLVRKPSMRPRNLTEVLLNTQHLEFFREFLKERKAKIPLQFLTAVQKISIETNEKICKSLIENVIKTFFQGQLSPEEMLQCDAPIIKEIASMRHVTTSTLLTLQGHVMKSIEEKWFKDYQDLFPPHHQEVEVQSEVQISSRKPSKIVSTYLQESQKKGWMRMISFIRSFCKYRRFMLNPSKRQEFEDYLHQEMQNSKENFTTAHNTSGRSAPPSTNVRSADQENGEITLVKRRIFGHRIITVNFAINDLYFFSEMEKFNDLVSSAHMLQVNRAYNENDVILMRSKMNIIQKLFLNSDIPPKLRVNVPEFQKDAILAAITEGYLDRSVFHGAIMSVFPVVMYFWKRFCFWKATRSYLQYRGKKFKDRKSPPKSTDKYPFSSGGDNAILRFTLLRGIEWLQPQREAISSVQNSSSSKLTQPRLVVSAMQLHPVQGQKLSYIKKEK", "length": 500, "header": "sp|A5PLK6-3|RGSL_HUMAN Isoform 3 of Regulator of G-protein signaling protein-like OS=Homo sapiens OX=9606 GN=RGSL1 PE=2 SV=1 CANONICAL=A5PLK6-1" }, "locus": {} }, { "isoform_ac": "A5PLK6-4", "url": "https://www.uniprot.org/uniprot/A5PLK6#A5PLK6-4", "sequence": { "sequence": "MSFEELCYKNPKMAIQKISDDYKIYCEKAPKIDFKMEIIKETKTVSRSNRKMSLLKRTLVRKPSMRPRNLTEVLLNTQHLEFFREFLKERKAKIPLQFLTAVQKISIETNEKICKSLIENVIKTFFQGQLSPEEMLQCDAPIIKEIASMRHVTTSTLLTLQGHVMKSIEEKWFKDYQDLFPPHHQEVEVQSEVQISSRKPSKIVSTYLQESQKKGWMRMISFIRSFCKYRRFMLNPSKRQEFEDYLHQEMQNSKENFTTAHNTSGRSAPPSTNVRSADQENGEITLVKRRIFGHRIITVNFAINDLYFFSEMEKFNDLVSSAHMLQVNRAYNENDVILMRSKMNIIQKLFLNSDIPPKLRVNVPEFQKDAILAAITEGYLDRSVFHGAIMSVFPVVMYFWKR", "length": 402, "header": "sp|A5PLK6-4|RGSL_HUMAN Isoform 4 of Regulator of G-protein signaling protein-like OS=Homo sapiens OX=9606 GN=RGSL1 PE=2 SV=1 CANONICAL=A5PLK6-1" }, "locus": {} }, { "isoform_ac": "A5PLK6-5", "url": "https://www.uniprot.org/uniprot/A5PLK6#A5PLK6-5", "sequence": { "sequence": "MLSPWYDEFLDEEDYWFLLFTTQNRFISSRQHKREFIGKEENILLYKRIQQSLELSQALADMKEMDYRQWRKIATEDLKQGGSLQVELTSPVFLTDITKMSFEELCYKNPKMAIQKISDDYKIYCEKAPKIDFKMEIIKETKTVSRSNRKMSLLKRTLVRKPSMRPRNLTEVLLNTQHLEFFREFLKERKAKIPLQFLTAVQKISIETNEKICKSLIENVIKTFFQGQLSPEEMLQCDAPIIKEIASMRHVTTSTLLTLQGHVMKSIEEKWFKDYQDLFPPHHQEVEVQSEVQISSRKPSKIVSTYLQESQKKGWMRMISFIRSFCKYRRFMLNPSKRQEFEDYLHQEMQNSKENFTTAHNTSGRSAPPSTNVRSADQENGEITLVKRRIFGHRIITVNFAINDLYFFSEMEKFNDLVSSAHMLQVNRAYNENDVILMRSKMNIIQKLFLNSDIPPKLRVLFLEGNPLLLTV", "length": 472, "header": "sp|A5PLK6-5|RGSL_HUMAN Isoform 5 of Regulator of G-protein signaling protein-like OS=Homo sapiens OX=9606 GN=RGSL1 PE=2 SV=1 CANONICAL=A5PLK6-1" }, "locus": {} }, { "isoform_ac": "A5PLK6-6", "url": "https://www.uniprot.org/uniprot/A5PLK6#A5PLK6-6", "sequence": { "sequence": "MSSAEIIGSTNLIILLEDEVFADFFNTFLSLPVFGQTPFYTVENSQWSLWPEIPCNLIAKYKGLLTWLEKCRLPFFCKTNLCFHYILCQEFISFIKSPEGAKMMRWKKADQWLLQKCIGGVRGMWRFYSYLTGSAGEELVDFWILAENILSIDEMDLEVRDYYLSLLLMLRATHLQEGSRVVTLCNMNIKSLLNLSIWHPNQSTTRREILSHMQKVALFKLQSYWLPNFYTHTKMTMAKEEACHGLMQEYETRLYSVCYTHIGGLPLNMSIKKCHHFQKRYSSRKAKRKMWQLVDPDSWSLEMDLKPDAIGMPLQETCPQEKVVIQMPSLKMASSKETRISSLEKDMHYAKISSMENKAKSHLHMEAPFETKVSTHLRTVIPIVNHSSKMTIQKAIKQSFSLGYIHLALCADACAGNPFRDHLKKLNLKVEIQLLDLWQDLQHFLSVLLNNKKNGNAIFRHLLGDRICELYLNEQIGPCLPLKSQTIQGLKELLPSGDVIPWIPKAQKEICKMLSPWYDEFLDEEDYWFLLFTVGRTLG", "length": 539, "header": "sp|A5PLK6-6|RGSL_HUMAN Isoform 6 of Regulator of G-protein signaling protein-like OS=Homo sapiens OX=9606 GN=RGSL1 PE=2 SV=1 CANONICAL=A5PLK6-1" }, "locus": {} }, { "isoform_ac": "H3BNQ0-1", "url": "https://www.uniprot.org/uniprot/A5PLK6#H3BNQ0-1", "sequence": { "sequence": "AQKEICKMLSPWYDEFLDEEDYWFLLFTT", "length": 29, "header": "tr|H3BNQ0-1|H3BNQ0_HUMAN Computationally mapped isoform of Regulator of G-protein-signaling protein-like OS=Homo sapiens OX=9606 GN=RGSL1 PE=4 SV=2 CANONICAL=A5PLK6-1" }, "locus": { "chromosome": "1", "start_pos": 182493024, "end_pos": 182474522, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000415960", "url": "https://www.ensembl.org/id/ENST00000415960" }, { "database": "Ensembl Peptide", "id": "ENSP00000454954", "url": "https://www.ensembl.org/id/ENSP00000454954" } ] } }, { "isoform_ac": "H3BNR3-1", "url": "https://www.uniprot.org/uniprot/A5PLK6#H3BNR3-1", "sequence": { "sequence": "MMRWKKADQWLLQKCIGGVRGMWRFYSYLTGSAGEELVDFWILAENILSIDEMDLEVRDYYLSL", "length": 64, "header": "tr|H3BNR3-1|H3BNR3_HUMAN Computationally mapped isoform of Regulator of G-protein-signaling protein-like OS=Homo sapiens OX=9606 GN=RGSL1 PE=4 SV=1 CANONICAL=A5PLK6-1" }, "locus": { "chromosome": "1", "start_pos": 182472487, "end_pos": 182471287, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000437548", "url": "https://www.ensembl.org/id/ENST00000437548" }, { "database": "Ensembl Peptide", "id": "ENSP00000454969", "url": "https://www.ensembl.org/id/ENSP00000454969" } ] } }, { "isoform_ac": "H3BNS3-1", "url": "https://www.uniprot.org/uniprot/A5PLK6#H3BNS3-1", "sequence": { "sequence": "MMRWKKADQWLLQKCIGGVRGMWRFYSYL", "length": 29, "header": "tr|H3BNS3-1|H3BNS3_HUMAN Computationally mapped isoform of Regulator of G-protein-signaling protein-like OS=Homo sapiens OX=9606 GN=RGSL1 PE=4 SV=8 CANONICAL=A5PLK6-1" }, "locus": { "chromosome": "1", "start_pos": 182471373, "end_pos": 182471287, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000447374", "url": "https://www.ensembl.org/id/ENST00000447374" }, { "database": "Ensembl Peptide", "id": "ENSP00000454981", "url": "https://www.ensembl.org/id/ENSP00000454981" } ] } }, { "isoform_ac": "H3BRN5-1", "url": "https://www.uniprot.org/uniprot/A5PLK6#H3BRN5-1", "sequence": { "sequence": "MSSAEIIGSTNLIILLEDEVFADFFNTFLSLPVFGQTPFYTVENSQWSLWPEIPCNLIAKYKGLLTWLEKCRLPFFCKTNLCFHYILCQEFISFIKSPEGEARVSLLKSNWWWCWRDSQEDDEIGSTRNLFPHLDNNCTGRICMICSVPGMMSF", "length": 154, "header": "tr|H3BRN5-1|H3BRN5_HUMAN Computationally mapped isoform of Regulator of G-protein-signaling protein-like OS=Homo sapiens OX=9606 GN=RGSL1 PE=4 SV=1 CANONICAL=A5PLK6-1" }, "locus": { "chromosome": "1", "start_pos": 182488312, "end_pos": 182450166, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000422241", "url": "https://www.ensembl.org/id/ENST00000422241" }, { "database": "Ensembl Peptide", "id": "ENSP00000456332", "url": "https://www.ensembl.org/id/ENSP00000456332" } ] } }, { "isoform_ac": "H3BU64-1", "url": "https://www.uniprot.org/uniprot/A5PLK6#H3BU64-1", "sequence": { "sequence": "MSSAEIIGSTNLIILLEDEVFADFFNTFLSLPVFGQTPFYTVENSQWSLWPEIPCNLIAKYKGLLTWLEKCRLPFFCKTNLCFHYILCQEFISFIKSPEGAKMMRWKKADQWLLQKCIGGVRGMWRFYSYLTGSAGEELVDFWILAENILSIDEMDLEVRDYYLSLLLMLRATHLQEGSRVVTLCNMNIKSLLNLSIWHPNQSTTRREILSHMQKVALFKLQSYWLPNFYTHTKMTMAKEEACHGLMQEYETRLYSVCYTHIGGLPLNMSIKKCHHFQKRYSSRKAKRKMWQLVDPDSWSLEMDLKPDAIGMPLQETCPQEKVVIQMPSLKMASSKETRISSLEKDMHYAKISSMENKAKSHLHMEAPFETKVSTHLRTVIPIVNHSSKMTIQKAIKQSFSLGYIHLALCADACAGNPFRDHLKKLNLKVEIQLLDLWQDLQHFLSVLLNNKKNGNAIFRHLLGDRICELYLNEQIGPCLPLKSQTIQGLKELLPSGDVIPWIPKAQKEICKMLSPWYDEFLDEEDYWFLLFTTQNRFISSRQHKREFIGKEENILLYKRIQQSLELSQALADMKEMDYRQWRKIATEDLKQGGSLQVELTSPVFLTDITKMSFEELCYKNPKMAIQKISDDYKIYCEKAPKIDFKMEIIKETKTVSRSNRKMSLLKRTLVRKPSMRPRNLTEVLLNTQHLEFFREFLKERKAKIPLQFLTAVQKISIETNEKICKSLIENVIKTFFQGQLSPEEMLQCDAPIIKEIASMRHVTTSTLLTLQGHVMKSIEEKWFKDYQDLFPPHHQEVEVQSEVQISSRKPSKIVSTYLQESQKKGWMRMISFIRSFCKYRRFMLNPSKRQEFEDYLHQEMQNSKENFTTAHNTSGRSAPPSTNVRSADQENGEITLVKRRIFGHRIITVNFAINDLYFFSEMEKFNDLVSSAHMLQVNRAYNENDVILMRSKMNIIQKLFLNSDIPPKLRVLFLEGNPLLLTV", "length": 984, "header": "tr|H3BU64-1|RGSL_HUMAN Computationally mapped isoform of Regulator of G-protein signaling protein-like OS=Homo sapiens OX=9606 GN=RGSL1 PE=2 SV=1 CANONICAL=A5PLK6-1" }, "locus": { "chromosome": "1", "start_pos": 182551138, "end_pos": 182450166, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000443996", "url": "https://www.ensembl.org/id/ENST00000443996" }, { "database": "Ensembl Peptide", "id": "ENSP00000457491", "url": "https://www.ensembl.org/id/ENSP00000457491" } ] } }, { "isoform_ac": "H3BVE8-1", "url": "https://www.uniprot.org/uniprot/A5PLK6#H3BVE8-1", "sequence": { "sequence": "MSSAEIIGSTNLIILLEDEVFADFFNTFLSLPVFGQTPFYTVENSQWSLWPEIPCNLIAKYKGLLTWLEKCRLPFFCKTNLCFHYILCQEFISFIKSPEGGEELVDFWILAENILSIDEMDLEVRDYYLSLLLMLRATHLQEGSRVVTLCNMNINAQSLV", "length": 160, "header": "tr|H3BVE8-1|H3BVE8_HUMAN Computationally mapped isoform of Regulator of G-protein-signaling protein-like OS=Homo sapiens OX=9606 GN=RGSL1 PE=4 SV=1 CANONICAL=A5PLK6-1" }, "locus": { "chromosome": "1", "start_pos": 182488301, "end_pos": 182450166, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000416676", "url": "https://www.ensembl.org/id/ENST00000416676" }, { "database": "Ensembl Peptide", "id": "ENSP00000458086", "url": "https://www.ensembl.org/id/ENSP00000458086" } ] } } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [], "publication": [ { "title": "Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs.", "journal": "Genome Res.", "date": "2001", "authors": "Ansorge W., Bauersachs S., Beyer A., Bloecker H., Blum H., Boecher M., Duesterhoeft A., Gassenhuber J., Glassl S., Heubner D., Klein M., Koehrer K., Korn B., Lauber J., Mewes H.-W., Obermaier B., Ottenwaelder B., Poustka A., Strack N., Tampe J., Wambutt R., Weil B., Wellenreuther R., Wiemann S.", "evidence": [ { "database": "UniProtKB", "id": "A5PLK6", "url": "https://www.uniprot.org/uniprot/A5PLK6" } ], "reference": [ { "type": "PubMed", "id": "11230166", "url": "https://glygen.org/publication/PubMed/11230166" } ] }, { "title": "A fragile site within the HPC1 region at 1q25.3 affecting RGS16, RGSL1, and RGSL2 in human breast carcinomas.", "journal": "Genes, chromosomes & cancer", "date": "2008", "authors": "Wiechec E, Overgaard J, Hansen LL", "evidence": [ { "database": "RefSeq", "id": "NP_001131141", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001131141" } ], "reference": [ { "type": "PubMed", "id": "18521847", "url": "https://glygen.org/publication/PubMed/18521847" } ] }, { "title": "Intermediate phenotypes identify divergent pathways to Alzheimer's disease.", "journal": "PloS one", "date": "2010", "authors": "Shulman JM, Chibnik LB, Aubin C, Schneider JA, Bennett DA, De Jager PL", "evidence": [ { "database": "RefSeq", "id": "NP_001131141", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001131141" } ], "reference": [ { "type": "PubMed", "id": "20574532", "url": "https://glygen.org/publication/PubMed/20574532" } ] }, { "title": "High-resolution melting analysis for mutation screening of RGSL1, RGS16, and RGS8 in breast cancer.", "journal": "Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology", "date": "2011", "authors": "Wiechec E, Wiuf C, Overgaard J, Hansen LL", "evidence": [ { "database": "RefSeq", "id": "NP_001131141", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001131141" } ], "reference": [ { "type": "PubMed", "id": "21135262", "url": "https://glygen.org/publication/PubMed/21135262" } ] }, { "title": "Chromosome 1q25.3 copy number alterations in primary breast cancers detected by multiplex ligation-dependent probe amplification and allelic imbalance assays and its comparison with fluorescent in situ hybridization assays.", "journal": "Cellular oncology (Dordrecht)", "date": "2013", "authors": "Wiechec E, Overgaard J, Kjeldsen E, Hansen LL", "evidence": [ { "database": "RefSeq", "id": "NP_001131141", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001131141" } ], "reference": [ { "type": "PubMed", "id": "23248035", "url": "https://glygen.org/publication/PubMed/23248035" } ] } ], "pathway": [ { "id": "hsa:353299", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:353299", "resource": "KEGG Pathway" }, { "id": "R-HSA-416476", "name": "G alpha (q) signalling events", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-416476", "resource": "Reactome", "description": "G alpha (q) signalling events" }, { "id": "R-HSA-418594", "name": "G alpha (i) signalling events", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418594", "resource": "Reactome", "description": "G alpha (i) signalling events" }, { "id": "R-HSA-418597", "name": "G alpha (z) signalling events", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418597", "resource": "Reactome", "description": "G alpha (z) signalling events" } ], "orthologs": [ { "uniprot_canonical_ac": "A0A5F8MPV0-1", "protein_name": "Regulator of G-protein-signaling-like 1", "gene_name": "Rgsl1", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MSNADIICSTNLIILLEDETFADFFNTFLSLPVFGQTPFYNVEKSQWSLWPEVPYDLIAKYKGLLTWLEKYRLPFFCKTNLCFYYILSQELVSFLKSPEGAKMMRWNMADQWLLQKCIAGVRGMWRFCSYLKGSAGEELLDFWILAEKILSIDETDKYLKDYYLSLLLVLKATHLQEGSRVVTLCNMDIKSLLNLSIWHPNQSTTRREILSHMQKVALFKIQSYWLPNFYTHAKMTMANEEACHGLMQEYETRLYSVCCAHAGGLPLNMSIKKSRHSQKKYSSKKAKKKIWHLNNPILWPLETDAKPEVPTKPQEELSLPERVVLQKTSLGEDSSKETIIHSLCKDLQNAKKPIVKKKSKIQLHMEGFLETAFTNHLRSSTPIINHAAPLVVKKSLKRSLSFGYTHWALCADACAGSPFRFHLKKMNLKVEVQLLDLWQDLQHFISVLMNNRQNGNALFRHMLGNRICELYLNEQIGPPLPLKPQTLQGLKKLLPSGEVNPWIPKAQREICKVLSPWYDEFLMEEDYWFLIFTTQTRFAKARWHKRETISKEEHILLYKRLQESLVLSQALASMQEIDSMQWQKVATENLRQGGSLQVELTTPVFLQDISKMSFKDLSFKNPKLAIEKMSEDYKIYCEKVPPTAFTVEIIRQPKYSYSQRKTSFVKKSVVRKPSMRPRNLTEVLLNNAHLEYFKEFLKDRKSESPLQFLIAVQKIMMETNEKTYKTSLENITKTYLHGKVPAEEILQCDAPFIKEIANVRHITTTTLLMLQGYVMKSVEEKWFKEYQDLFPPRSVEFEFVEAQAVPRKPSKSTTHLHDSQKRGWIKMIAFIKSFCNYRRFIADANNRQELADFIYLEMFNNKENFSTSPATSARHTPVNLSARNAEQENGDTVLVKRRIFGHRIITINFAVNDMYLFSEMERFNDLVSSAHMLQINRAYNENDIILMRSKLNIIVKLYLVSDLPPKLKVNISESQKDIIISAITEGHLDRTIFHGAIMSIFPVIMYFWKRFCNWKATRSYVEYLGKKFEDGRNPPKSVYKYPPWSGGEHTVLRFSLLRGVEWFRPQHPRDAVPSSLQPYQKYPTTKKRRSNQAKAKADMDGPLTLSQY", "length": 1108 }, "evidence": [ { "id": "129962", "url": "http://www.informatics.jax.org/homology/129962", "database": "MGI" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "F1M608-1", "protein_name": "Regulator of G-protein-signaling-like 1", "gene_name": "Rgsl1", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MSNAEIICSTNLIILLEDETFADFFNTFLSLPVFGQTPFYNVELSQWSLWPEIPYDLITKYKGLLTWLEKYRLPFFCKTNLCFYYILCQELISFVKSPEGGEELLDFWVLAEKILSIDETDEYLKDYYLSLLLVLKATHLQEGSRVVTLCNMDIKSLLNLSIWHPNQSTTRREILSHMQKVALFKIQSYWLPNFYTHAKMTMANEEACHGLLQEYETRLCSVCCTHAGGLPLNMSIKKSHRSQKKYSSKKAKKKMWHLNNPIFWPLETDPKPEVPTKAPEEMSLPERVVLQKPSLGEDSSKETVVHPLCKDLQNAKKPIVKKKSKIQLHMEGLLETTFSNHLRTSTPMINHAAPLVVKKSLKRSLSFGYTHWALCADACAGSPFRYHLKKMNLKAEVQLLDLWQDLQHFVSVLMTNRQNGNALFRHVLGNRICELYLNEQIGPPLPLKPQTLQGLKKLLPSGEVNPWIPKAQREICKMLSSRYDEFRLEGTLWVVEGFRLKQRFIKARWYKESQLTERRHVSFIYSGVQPLAVNAAWLTATRKSVVLFRWQKVGYELAKGGSLSIELTRVKCLQDTSKMSFKDLSFKNPKLAIEKMSEDYKIYCERVPPTDFTVEIIKQPRVSYSQRKISFAKRSVIRKPSMRPRNMTEILLNNAHLEYFREFLKDRKSENPLQFLIAVQKIMMETNEKTYKTSLENITKTYLHGKVPPDKILQCDAPFVKEVVNRHITTPPIAELQGIIMECVEEKWFKEYQDLFPPRPVEVEPVETHVVPRKPSKTITTHLHDSQKRGWIKMISFIKSFCKYRRFVTNAKNLQELTDFIYLEMYNNKENFSSSPTPSARHTPIYPSARNTEPENGEIALVKRRIFGHRIITINFAVNDIYFFSEMEKFNDLVTSAHMLQVNKAYNENDIVLMRSKLNIILKLYLISDLPPKLRVNISESQKDIIFSAITEGHLDRTIFHGAIMSVFPVVMYFWKRFCSWKTRSYIESLGRIEDGRNPPKSVYKYPPWSGGDHTVLRFSLLRGIEWFRPQHPRDVLTNSLQNYQKYPKKKKRKNNHAKSRTEVDDSLSASQY", "length": 1073 }, "evidence": [ { "id": "A5PLK6", "url": "https://omabrowser.org/oma/group/A5PLK6/", "database": "OMA" } ], "common_name": "Rat" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 1, "go_terms": [ { "name": "integral component of membrane", "id": "GO:0016021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016021", "evidence": [ { "database": "UniProtKB", "id": "A5PLK6", "url": "https://www.uniprot.org/uniprot/A5PLK6" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 1043, "end_pos": 1045, "annotation": "n_glycosylation_sequon" }, { "start_pos": 159, "end_pos": 161, "annotation": "n_glycosylation_sequon" }, { "start_pos": 166, "end_pos": 168, "annotation": "n_glycosylation_sequon" }, { "start_pos": 233, "end_pos": 235, "annotation": "n_glycosylation_sequon" }, { "start_pos": 350, "end_pos": 352, "annotation": "n_glycosylation_sequon" }, { "start_pos": 645, "end_pos": 647, "annotation": "n_glycosylation_sequon" }, { "start_pos": 832, "end_pos": 834, "annotation": "n_glycosylation_sequon" }, { "start_pos": 838, "end_pos": 840, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ] }