{ "uniprot_canonical_ac": "A4QPB2-1", "ptm_annotation": [], "sequence": { "header": "sp|A4QPB2-1|LRP5L_HUMAN Isoform 1 of Low-density lipoprotein receptor-related protein 5-like protein OS=Homo sapiens OX=9606 GN=LRP5L PE=2 SV=2 CANONICAL=A4QPB2-1", "length": 252, "sequence": "MEGHVYWTDDEVWAIRRAYLDGSGAQTLINTKINDPDDIAVNWVARSLYWTHTGTEHIEVTCLNSTSHKILVSEDMDEPRAIALHPEMGLTYWIDWGENPEIKRANLDRQELRVLVNASLGWPNGLALDLQEGKLYWGDAKTDKIEAISVDETKRQTLLKDKLPHIFRFTLLGDFIYWTAWQHHSIKRVHKVKANRDVIIDQLPDLMGLKAVNVDKVVGTNPHADRNGGAATCASSRPTQPGLAAPSRAWNC" }, "uniprot_id": "LRP5L_HUMAN", "enzyme_annotation": [], "glycation": [], "keywords": [], "species": [ { "common_name": "Human", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A4QPB2", "id": "A4QPB2", "database": "UniProtKB" } ], "name": "Homo sapiens", "taxid": 9606 } ], "publication": [], "uniprot_ac": "A4QPB2", "site_annotation": [ { "end_pos": 66, "annotation": "n_glycosylation_sequon", "start_pos": 64 }, { "end_pos": 119, "annotation": "n_glycosylation_sequon", "start_pos": 117 } ], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A4QPB2#A4QPB2-1", "isoform_ac": "A4QPB2-1", "locus": { "end_pos": 25351802, "strand": "+", "start_pos": 25360092, "chromosome": "22", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000402859", "id": "ENST00000402859", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000384291", "id": "ENSP00000384291", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A4QPB2-1|LRP5L_HUMAN Isoform 1 of Low-density lipoprotein receptor-related protein 5-like protein OS=Homo sapiens OX=9606 GN=LRP5L PE=2 SV=2 CANONICAL=A4QPB2-1", "length": 252, "sequence": "MEGHVYWTDDEVWAIRRAYLDGSGAQTLINTKINDPDDIAVNWVARSLYWTHTGTEHIEVTCLNSTSHKILVSEDMDEPRAIALHPEMGLTYWIDWGENPEIKRANLDRQELRVLVNASLGWPNGLALDLQEGKLYWGDAKTDKIEAISVDETKRQTLLKDKLPHIFRFTLLGDFIYWTAWQHHSIKRVHKVKANRDVIIDQLPDLMGLKAVNVDKVVGTNPHADRNGGAATCASSRPTQPGLAAPSRAWNC" } }, { "url": "https://www.uniprot.org/uniprot/A4QPB2#A4QPB2-2", "isoform_ac": "A4QPB2-2", "locus": {}, "sequence": { "header": "sp|A4QPB2-2|LRP5L_HUMAN Isoform 2 of Low-density lipoprotein receptor-related protein 5-like protein OS=Homo sapiens OX=9606 GN=LRP5L PE=2 SV=2 CANONICAL=A4QPB2-1", "length": 224, "sequence": "MEGHVYWTDDEVWAIRRAYLDGSGAQTLINTKINDPDDIAVNWVARSLYWTHTGTEHIEVTCLNSTSHKILVSEDMDEPRAIALHPEMGLTYWIDWGENPEIKRANLDRQELRVLVNASLGWPNGLALDLQEGKLYWGDAKTDKIEAISVDETKRQTLLKDKLPHIFRFTLLGDFIYWTAWQHHSIKRVHKVKANRDVIIDQLPDLMGLKAVNVDKVVGPGTAE" } } ], "pathway": [ { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:91355", "resource": "KEGG Pathway", "id": "hsa:91355", "name": "" } ], "function": [], "orthologs": [], "interactions": [], "synthesized_glycans": [], "snv": [ { "sequence_org": "D", "start_pos": 37, "alt_nt": "A", "chr_id": "22", "ref_nt": "C", "chr_pos": "25755951", "disease": [ { "synonyms": [ { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid neoplasm", "description": "" } ], "recommended_name": { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid gland cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A4QPB2", "id": "A4QPB2", "database": "BioMuta" } ], "frequency": "2.0", "sequence_mut": "Y", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%).", "end_pos": 37, "minor_allelic_frequency": "", "subjects_positive": "1" } ], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" } ], "refseq": { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129244.1", "ac": "NP_001129244.1", "name": "low-density lipoprotein receptor-related protein 5-like protein", "summary": "" }, "go_annotation": { "categories": [ { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017147", "pmid": "21873635", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A4QPB2", "id": "A4QPB2", "database": "UniProtKB" } ], "name": "Wnt-protein binding", "id": "GO:0017147" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042813", "pmid": "21873635", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A4QPB2", "id": "A4QPB2", "database": "UniProtKB" } ], "name": "Wnt-activated receptor activity", "id": "GO:0042813" } ], "total": 2, "name": "Molecular Function" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "pmid": "21873635", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A4QPB2", "id": "A4QPB2", "database": "UniProtKB" } ], "name": "plasma membrane", "id": "GO:0005886" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043235", "pmid": "21873635", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A4QPB2", "id": "A4QPB2", "database": "UniProtKB" } ], "name": "receptor complex", "id": "GO:0043235" } ], "total": 2, "name": "Cellular Component" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045944", "pmid": "21873635", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A4QPB2", "id": "A4QPB2", "database": "UniProtKB" } ], "name": "positive regulation of transcription by RNA polymerase II", "id": "GO:0045944" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060612", "pmid": "21873635", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A4QPB2", "id": "A4QPB2", "database": "UniProtKB" } ], "name": "adipose tissue development", "id": "GO:0060612" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002076", "pmid": "21873635", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A4QPB2", "id": "A4QPB2", "database": "UniProtKB" } ], "name": "osteoblast development", "id": "GO:0002076" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042632", "pmid": "21873635", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A4QPB2", "id": "A4QPB2", "database": "UniProtKB" } ], "name": "cholesterol homeostasis", "id": "GO:0042632" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009952", "pmid": "21873635", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A4QPB2", "id": "A4QPB2", "database": "UniProtKB" } ], "name": "anterior/posterior pattern specification", "id": "GO:0009952" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046849", "pmid": "21873635", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A4QPB2", "id": "A4QPB2", "database": "UniProtKB" } ], "name": "bone remodeling", "id": "GO:0046849" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001702", "pmid": "21873635", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A4QPB2", "id": "A4QPB2", "database": "UniProtKB" } ], "name": "gastrulation with mouth forming second", "id": "GO:0001702" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060070", "pmid": "21873635", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A4QPB2", "id": "A4QPB2", "database": "UniProtKB" } ], "name": "canonical Wnt signaling pathway", "id": "GO:0060070" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060349", "pmid": "21873635", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A4QPB2", "id": "A4QPB2", "database": "UniProtKB" } ], "name": "bone morphogenesis", "id": "GO:0060349" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061178", "pmid": "21873635", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A4QPB2", "id": "A4QPB2", "database": "UniProtKB" } ], "name": "regulation of insulin secretion involved in cellular response to glucose stimulus", "id": "GO:0061178" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048539", "pmid": "21873635", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A4QPB2", "id": "A4QPB2", "database": "UniProtKB" } ], "name": "bone marrow development", "id": "GO:0048539" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060444", "pmid": "21873635", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A4QPB2", "id": "A4QPB2", "database": "UniProtKB" } ], "name": "branching involved in mammary gland duct morphogenesis", "id": "GO:0060444" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061304", "pmid": "21873635", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A4QPB2", "id": "A4QPB2", "database": "UniProtKB" } ], "name": "retinal blood vessel morphogenesis", "id": "GO:0061304" } ], "total": 13, "name": "Biological Process" } ] }, "gene_names": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/A4QPB2", "type": "synonym", "resource": "RefSeq", "name": "LRP5L" }, { "url": "https://www.uniprot.org/uniprot/A4QPB2", "type": "recommended", "resource": "UniProtKB", "name": "LRP5L" } ], "crossref": [ { "url": "https://www.ncbi.nlm.nih.gov/gene/91355", "id": "91355", "database": "GeneID" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR011042", "id": "IPR011042", "database": "InterPro" }, { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A4QPB2", "id": "A4QPB2", "database": "BioMuta" }, { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:91355", "id": "hsa:91355", "database": "KEGG Pathway" }, { "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP5L", "id": "LRP5L", "database": "GeneCards" }, { "url": "https://omabrowser.org/oma/group/WIDWGEN/", "id": "WIDWGEN", "database": "OMA" }, { "url": "http://pfam.xfam.org/family/PF00058", "id": "PF00058", "database": "Pfam" }, { "url": "https://pharos.nih.gov/targets/A4QPB2", "id": "A4QPB2", "database": "PHAROS" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR000033", "id": "IPR000033", "database": "InterPro" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129244.1", "id": "NP_001129244.1", "database": "RefSeq" }, { "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=25323", "id": "25323", "database": "HGNC" }, { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100068", "id": "ENSG00000100068", "database": "Bgee" }, { "url": "http://www.orthodb.org/?query=121310at2759", "id": "121310at2759", "database": "OrthoDB" }, { "url": "https://www.ebi.ac.uk/intact/interactors/id:A4QPB2*", "id": "A4QPB2", "database": "IntAct" }, { "url": "http://research.bioinformatics.udel.edu/pro/entry/PR_A4QPB2", "id": "PR_A4QPB2", "database": "PRO" }, { "url": "https://www.nextprot.org/entry/NX_A4QPB2", "id": "NX_A4QPB2", "database": "neXtProt" } ], "expression_disease": [ { "name": "Prostate cancer [DO disease name]", "trend": "Down", "disease": [ { "synonyms": [ { "id": "DOID:10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "tumor of the prostate", "description": "" } ], "recommended_name": { "id": "DOID:10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A4QPB2", "id": "A4QPB2", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:10283", "significant": "No" }, { "name": "Esophageal cancer [DO disease name]", "trend": "Up", "disease": [ { "synonyms": [ { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "malignant tumor of the middle Third of the esophagus", "description": "" } ], "recommended_name": { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A4QPB2", "id": "A4QPB2", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:5041", "significant": "No" }, { "name": "Liver cancer [DO disease name]", "trend": "Down", "disease": [ { "synonyms": [ { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "primary malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ], "recommended_name": { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A4QPB2", "id": "A4QPB2", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:3571", "significant": "No" }, { "name": "Lung adenocarcinoma [DO disease name]", "trend": "Down", "disease": [ { "synonyms": [ { "id": "DOID:3910", "url": "http://disease-ontology.org/term/DOID:3910", "resource": "Disease Ontology", "name": "bronchogenic lung adenocarcinoma", "description": "" }, { "id": "DOID:3910", "url": "http://disease-ontology.org/term/DOID:3910", "resource": "Disease Ontology", "name": "nonsmall cell adenocarcinoma", "description": "" } ], "recommended_name": { "id": "DOID:3910", "url": "http://disease-ontology.org/term/DOID:3910", "resource": "Disease Ontology", "name": "lung adenocarcinoma", "description": "A lung cancer that derives_from epithelial cells of glandular origin." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A4QPB2", "id": "A4QPB2", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:3910", "significant": "No" }, { "name": "Lung squamous cell carcinoma [DO disease name]", "trend": "Up", "disease": [ { "synonyms": [ { "id": "DOID:3907", "url": "http://disease-ontology.org/term/DOID:3907", "resource": "Disease Ontology", "name": "Epidermoid cell carcinoma of the lung", "description": "" } ], "recommended_name": { "id": "DOID:3907", "url": "http://disease-ontology.org/term/DOID:3907", "resource": "Disease Ontology", "name": "lung squamous cell carcinoma", "description": "A non-small cell lung carcinoma that has_material_basis_in the squamous cell." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A4QPB2", "id": "A4QPB2", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:3907", "significant": "No" }, { "name": "Thyroid gland cancer [DO disease name]", "trend": "Up", "disease": [ { "synonyms": [ { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid neoplasm", "description": "" } ], "recommended_name": { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid gland cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A4QPB2", "id": "A4QPB2", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:1781", "significant": "Yes" }, { "name": "Urinary bladder cancer [DO disease name]", "trend": "Up", "disease": [ { "synonyms": [ { "id": "DOID:11054", "url": "http://disease-ontology.org/term/DOID:11054", "resource": "Disease Ontology", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "url": "http://disease-ontology.org/term/DOID:11054", "resource": "Disease Ontology", "name": "tumor of the bladder", "description": "" } ], "recommended_name": { "id": "DOID:11054", "url": "http://disease-ontology.org/term/DOID:11054", "resource": "Disease Ontology", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A4QPB2", "id": "A4QPB2", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:11054", "significant": "No" } ], "glycosylation": [], "mutagenesis": [], "disease": [], "phosphorylation": [], "mass": { "monoisotopic_mass": 28483.0, "chemical_mass": 28483.0 }, "expression_tissue": [ { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0009853", "uberon": "0009853", "name": "Body of uterus" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100068", "id": "ENSG00000100068", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002048", "uberon": "0002048", "name": "Lung" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100068", "id": "ENSG00000100068", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000948", "uberon": "0000948", "name": "Heart" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100068", "id": "ENSG00000100068", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000996", "uberon": "0000996", "name": "Vagina" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100068", "id": "ENSG00000100068", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000955", "uberon": "0000955", "name": "Brain" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100068", "id": "ENSG00000100068", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001150", "uberon": "0001150", "name": "Body of pancreas" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100068", "id": "ENSG00000100068", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001155", "uberon": "0001155", "name": "Colon" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100068", "id": "ENSG00000100068", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002107", "uberon": "0002107", "name": "Liver" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100068", "id": "ENSG00000100068", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001161", "uberon": "0001161", "name": "Body of stomach" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100068", "id": "ENSG00000100068", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000178", "uberon": "0000178", "name": "Blood" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100068", "id": "ENSG00000100068", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001987", "uberon": "0001987", "name": "Placenta" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100068", "id": "ENSG00000100068", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002367", "uberon": "0002367", "name": "Prostate gland" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100068", "id": "ENSG00000100068", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001043", "uberon": "0001043", "name": "Esophagus" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100068", "id": "ENSG00000100068", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002369", "uberon": "0002369", "name": "Adrenal gland" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100068", "id": "ENSG00000100068", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002046", "uberon": "0002046", "name": "Thyroid gland" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100068", "id": "ENSG00000100068", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000992", "uberon": "0000992", "name": "Ovary" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100068", "id": "ENSG00000100068", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000458", "uberon": "0000458", "name": "Endocervix" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100068", "id": "ENSG00000100068", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000007", "uberon": "0000007", "name": "Pituitary gland" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100068", "id": "ENSG00000100068", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001160", "uberon": "0001160", "name": "Fundus of stomach" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100068", "id": "ENSG00000100068", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000473", "uberon": "0000473", "name": "Testis" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100068", "id": "ENSG00000100068", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001255", "uberon": "0001255", "name": "Urinary bladder" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100068", "id": "ENSG00000100068", "database": "Bgee" } ] } ], "gene": [ { "url": "https://www.uniprot.org/uniprot/A4QPB2", "name": "LRP5L", "locus": { "end_pos": 25351418, "strand": "-", "start_pos": 25405377, "chromosome": "22", "evidence": [ { "url": "https://www.ensembl.org/id/ENSG00000100068", "id": "ENSG00000100068", "database": "Ensembl Gene" } ] } } ], "protein_names": [ { "url": "https://www.uniprot.org/uniprot/A4QPB2", "type": "recommended", "resource": "UniProtKB", "name": "Low-density lipoprotein receptor-related protein 5-like protein" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A4QPB2", "type": "synonym", "resource": "RefSeq", "name": "LRP-5-like; low density lipoprotein receptor-related protein 5-like" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A4QPB2", "type": "synonym", "resource": "RefSeq", "name": "low-density lipoprotein receptor-related protein 5-like protein" }, { "url": "https://www.uniprot.org/uniprot/A4QPB2", "type": "synonym", "resource": "UniProtKB", "name": "LRP-5-like" } ] }