{ "uniprot_canonical_ac": "A4D1E9-1", "ptm_annotation": [], "sequence": { "header": "sp|A4D1E9-1|GTPBA_HUMAN Isoform 1 of GTP-binding protein 10 OS=Homo sapiens OX=9606 GN=GTPBP10 PE=1 SV=1 CANONICAL=A4D1E9-1", "length": 387, "sequence": "MVHCSCVLFRKYGNFIDKLRLFTRGGSGGMGYPRLGGEGGKGGDVWVVAQNRMTLKQLKDRYPRKRFVAGVGANSKISALKGSKGKDCEIPVPVGISVTDENGKIIGELNKENDRILVAQGGLGGKLLTNFLPLKGQKRIIHLDLKLIADVGLVGFPNAGKSSLLSCVSHAKPAIADYAFTTLKPELGKIMYSDFKQISVADLPGLIEGAHMNKGMGHKFLKHIERTRQLLFVVDISGFQLSSHTQYRTAFETIILLTKELELYKEELQTKPALLAVNKMDLPDAQDKFHELMSQLQNPKDFLHLFEKNMIPERTVEFQHIIPISAVTGEGIEELKNCIRKSLDEQANQENDALHKKQLLNLWISDTMSSTEPPSKHAVTTSKMDII" }, "uniprot_id": "GTPBA_HUMAN", "enzyme_annotation": [], "glycation": [], "keywords": [ "glycoprotein", "reported_with_glycan.glygen_ds" ], "species": [ { "common_name": "Human", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A4D1E9", "id": "A4D1E9", "database": "UniProtKB" } ], "name": "Homo sapiens", "taxid": 9606 } ], "publication": [ { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/17054726", "type": [ "PubMed" ], "id": "17054726" } ], "title": "Human small G proteins, ObgH1, and ObgH2, participate in the maintenance of mitochondria and nucleolar architectures.", "journal": "Genes Cells", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A4D1E9", "id": "A4D1E9", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001036182.1", "id": "NP_001036182.1", "database": "RefSeq" } ], "authors": "Hirano Y., Takeyasu K., Wada C., Ohniwa R.L., Yoshimura S.H.", "date": "2006" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/22658674", "type": [ "PubMed" ], "id": "22658674" } ], "title": "Insights into RNA biology from an atlas of mammalian mRNA-binding proteins.", "journal": "Cell", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001036182.1", "id": "NP_001036182.1", "database": "RefSeq" } ], "authors": "Castello A, Fischer B, Eichelbaum K, Horos R, Beckmann BM, Strein C, Davey NE, Humphreys DT, Preiss T, Steinmetz LM, Krijgsveld J, Hentze MW", "date": "2012" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/23824729", "type": [ "PubMed" ], "id": "23824729" } ], "title": "Common genetic loci influencing plasma homocysteine concentrations and their effect on risk of coronary artery disease.", "journal": "The American journal of clinical nutrition", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001036182.1", "id": "NP_001036182.1", "database": "RefSeq" } ], "authors": "van Meurs JB, Pare G, Schwartz SM, Hazra A, Tanaka T, Vermeulen SH, Cotlarciuc I, Yuan X, Malarstig A, Bandinelli S, Bis JC, Blom H, Brown MJ, Chen C, Chen YD, Clarke RJ, Dehghan A, Erdmann J, Ferrucci L, Hamsten A, Hofman A, Hunter DJ, Goel A, Johnson AD, Kathiresan S, Kampman E, Kiel DP, Kiemeney LA, Chambers JC, Kraft P, Lindemans J, McKnight B, Nelson CP, O'Donnell CJ, Psaty BM, Ridker PM, Rivadeneira F, Rose LM, Seedorf U, Siscovick DS, Schunkert H, Selhub J, Ueland PM, Vollenweider P, Waeber G, Waterworth DM, Watkins H, Witteman JC, den Heijer M, Jacques P, Uitterlinden AG, Kooner JS, Rader DJ, Reilly MP, Mooser V, Chasman DI, Samani NJ, Ahmadi KR", "date": "2013" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/28510447", "type": [ "PubMed" ], "id": "28510447" } ], "title": "Synthesis of a Highly Azide-Reactive and Thermosensitive Biofunctional Reagent for Efficient Enrichment and Large-Scale Identification of O-GlcNAc Proteins by Mass Spectrometry.", "journal": "Analytical chemistry", "evidence": [ { "url": "https://data.glygen.org/GLYDS000517", "id": "GLYDS000517", "database": "GlyGen" } ], "authors": "Zhang W, Liu T, Dong H, Bai H, Tian F, Shi Z, Chen M, Wang J, Qin W, Qian X", "date": "2017" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/30085210", "type": [ "PubMed" ], "id": "30085210" } ], "title": "The human Obg protein GTPBP10 is involved in mitoribosomal biogenesis.", "journal": "Nucleic acids research", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001036182.1", "id": "NP_001036182.1", "database": "RefSeq" } ], "authors": "Lavdovskaia E, Kolander E, Steube E, Mai MM, Urlaub H, Richter-Dennerlein R", "date": "2018" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/30321378", "type": [ "PubMed" ], "id": "30321378" } ], "title": "Human GTPBP10 is required for mitoribosome maturation.", "journal": "Nucleic acids research", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001036182.1", "id": "NP_001036182.1", "database": "RefSeq" } ], "authors": "Maiti P, Kim HJ, Tu YT, Barrientos A", "date": "2018" } ], "uniprot_ac": "A4D1E9", "site_annotation": [], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A4D1E9#A4D1E9-1", "isoform_ac": "A4D1E9-1", "locus": { "end_pos": 90346742, "strand": "-", "start_pos": 90385151, "chromosome": "7", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000222511", "id": "ENST00000222511", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000222511", "id": "ENSP00000222511", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A4D1E9-1|GTPBA_HUMAN Isoform 1 of GTP-binding protein 10 OS=Homo sapiens OX=9606 GN=GTPBP10 PE=1 SV=1 CANONICAL=A4D1E9-1", "length": 387, "sequence": "MVHCSCVLFRKYGNFIDKLRLFTRGGSGGMGYPRLGGEGGKGGDVWVVAQNRMTLKQLKDRYPRKRFVAGVGANSKISALKGSKGKDCEIPVPVGISVTDENGKIIGELNKENDRILVAQGGLGGKLLTNFLPLKGQKRIIHLDLKLIADVGLVGFPNAGKSSLLSCVSHAKPAIADYAFTTLKPELGKIMYSDFKQISVADLPGLIEGAHMNKGMGHKFLKHIERTRQLLFVVDISGFQLSSHTQYRTAFETIILLTKELELYKEELQTKPALLAVNKMDLPDAQDKFHELMSQLQNPKDFLHLFEKNMIPERTVEFQHIIPISAVTGEGIEELKNCIRKSLDEQANQENDALHKKQLLNLWISDTMSSTEPPSKHAVTTSKMDII" } }, { "url": "https://www.uniprot.org/uniprot/A4D1E9#A4D1E9-2", "isoform_ac": "A4D1E9-2", "locus": { "end_pos": 90346742, "strand": "-", "start_pos": 90385151, "chromosome": "7", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000257659", "id": "ENST00000257659", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000257659", "id": "ENSP00000257659", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A4D1E9-2|GTPBA_HUMAN Isoform 2 of GTP-binding protein 10 OS=Homo sapiens OX=9606 GN=GTPBP10 PE=1 SV=1 CANONICAL=A4D1E9-1", "length": 308, "sequence": "MVHCSCVLFRKYGNFIDKLRLFTRGGSGGMGYPRLGGEGGKGGDVWVVAQNRMTLKQLKDRYPRKRFVAGVGANSKFPNAGKSSLLSCVSHAKPAIADYAFTTLKPELGKIMYSDFKQISVADLPGLIEGAHMNKGMGHKFLKHIERTRQLLFVVDISGFQLSSHTQYRTAFETIILLTKELELYKEELQTKPALLAVNKMDLPDAQDKFHELMSQLQNPKDFLHLFEKNMIPERTVEFQHIIPISAVTGEGIEELKNCIRKSLDEQANQENDALHKKQLLNLWISDTMSSTEPPSKHAVTTSKMDII" } }, { "url": "https://www.uniprot.org/uniprot/A4D1E9#A4D1E9-3", "isoform_ac": "A4D1E9-3", "locus": { "end_pos": 90346742, "strand": "-", "start_pos": 90372183, "chromosome": "7", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000380058", "id": "ENST00000380058", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000369398", "id": "ENSP00000369398", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A4D1E9-3|GTPBA_HUMAN Isoform 3 of GTP-binding protein 10 OS=Homo sapiens OX=9606 GN=GTPBP10 PE=1 SV=1 CANONICAL=A4D1E9-1", "length": 116, "sequence": "MVHCSCVLFRKYGNFIDKLRLFTRGGSGGMGYPRLGGEGGKGGDVWVVAQNRMTLKQLKDRYPRKRFVAGVGANSKISALKGSKGKDCEIPVPVGISVTDENGKIIDSQMLENPLC" } }, { "url": "https://www.uniprot.org/uniprot/A4D1E9#C9J8R7-1", "isoform_ac": "C9J8R7-1", "locus": { "end_pos": 90340519, "strand": "-", "start_pos": 90377572, "chromosome": "7", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000426366", "id": "ENST00000426366", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000405697", "id": "ENSP00000405697", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|C9J8R7-1|GTPBA_HUMAN Computationally mapped isoform of GTP-binding protein 10 OS=Homo sapiens OX=9606 GN=GTPBP10 PE=1 SV=1 CANONICAL=A4D1E9-1", "length": 210, "sequence": "MRYGNFIDKLRLFTRGGSGGMGYPRLGGEGGKGGDVWVVAQNRMTLKQLKDRYPRKRFVAGVGANSKISALKGSKGKDCEIPVPVGISVTDENGKIIGELNKENDRILVAQGGLGGKLLTNFLPLKGQKRIIHLDLKLIADVGLVGFPNAGKSSLLSCVSHAKPAIADYAFTTLKPELGKIMYSDFKQISVADLPGLIEGAHMNKGMGHK" } }, { "url": "https://www.uniprot.org/uniprot/A4D1E9#C9JEQ8-1", "isoform_ac": "C9JEQ8-1", "locus": { "end_pos": 90346742, "strand": "-", "start_pos": 90384935, "chromosome": "7", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000417207", "id": "ENST00000417207", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000416596", "id": "ENSP00000416596", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|C9JEQ8-1|GTPBA_HUMAN Computationally mapped isoform of GTP-binding protein 10 OS=Homo sapiens OX=9606 GN=GTPBP10 PE=1 SV=8 CANONICAL=A4D1E9-1", "length": 242, "sequence": "MVHCSCVLFRKYGNFIDKLRLFTRGGSGGMGYPRLGGEGGKGGDVWVVAQNRMTLKQLKDRYPRKRFVAGVGANSKISALKGSKGKDCEIPVPVGISVTDENGKIIVTTLKPELGKIMYSDFKQISVADLPGLIEGAHMNKGMGHKFLKHIERTRQLLFVVDISGFQLSSHTQYRTAFETIILLTKELELYKEELQTKPALLAVNKMDLPDAQDKFHELMSQLQNPKDFLHLFEKNMIPERT" } }, { "url": "https://www.uniprot.org/uniprot/A4D1E9#C9JNI1-1", "isoform_ac": "C9JNI1-1", "locus": { "end_pos": 90340519, "strand": "-", "start_pos": 90377572, "chromosome": "7", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000450619", "id": "ENST00000450619", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000389510", "id": "ENSP00000389510", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|C9JNI1-1|GTPBA_HUMAN Computationally mapped isoform of GTP-binding protein 10 OS=Homo sapiens OX=9606 GN=GTPBP10 PE=1 SV=1 CANONICAL=A4D1E9-1", "length": 236, "sequence": "MRTVSLCHPDWSALASSWLTAASTSWAQYGNFIDKLRLFTRGGSGGMGYPRLGGEGGKGGDVWVVAQNRMTLKQLKDRYPRKRFVAGVGANSKISALKGSKGKDCEIPVPVGISVTDENGKIIGELNKENDRILVAQGGLGGKLLTNFLPLKGQKRIIHLDLKLIADVGLVGFPNAGKSSLLSCVSHAKPAIADYAFTTLKPELGKIMYSDFKQISVADLPGLIEGAHMNKGMGHK" } }, { "url": "https://www.uniprot.org/uniprot/A4D1E9#F8WBB5-1", "isoform_ac": "F8WBB5-1", "locus": { "end_pos": 90340519, "strand": "-", "start_pos": 90372183, "chromosome": "7", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000453512", "id": "ENST00000453512", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000410311", "id": "ENSP00000410311", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|F8WBB5-1|GTPBA_HUMAN Computationally mapped isoform of GTP-binding protein 10 OS=Homo sapiens OX=9606 GN=GTPBP10 PE=1 SV=1 CANONICAL=A4D1E9-1", "length": 107, "sequence": "MRYGNFIDKLRLFTRGGSGGMGYPRLGGEGGKGGDVWVVAQNRMTLKQLKDRYPRKRFVAGVGANSKISALKGSKGKDCEIPVPVGISVTDENGKIIDSQMLENPLC" } }, { "url": "https://www.uniprot.org/uniprot/A4D1E9#F8WBY0-1", "isoform_ac": "F8WBY0-1", "locus": { "end_pos": 90340519, "strand": "-", "start_pos": 90355095, "chromosome": "7", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000421719", "id": "ENST00000421719", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000411091", "id": "ENSP00000411091", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|F8WBY0-1|GTPBA_HUMAN Computationally mapped isoform of GTP-binding protein 10 OS=Homo sapiens OX=9606 GN=GTPBP10 PE=1 SV=1 CANONICAL=A4D1E9-1", "length": 70, "sequence": "MRYGNFIDKLRLFTRGGSGGMGYPRLGGEGGKGGDVWVVAQNRMTLKQLKDRYPRKRFVAGVGANSKRTQ" } }, { "url": "https://www.uniprot.org/uniprot/A4D1E9#F8WCN4-1", "isoform_ac": "F8WCN4-1", "locus": { "end_pos": 90346742, "strand": "-", "start_pos": 90355095, "chromosome": "7", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000439832", "id": "ENST00000439832", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000416713", "id": "ENSP00000416713", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|F8WCN4-1|GTPBA_HUMAN Computationally mapped isoform of GTP-binding protein 10 OS=Homo sapiens OX=9606 GN=GTPBP10 PE=1 SV=1 CANONICAL=A4D1E9-1", "length": 79, "sequence": "MVHCSCVLFRKYGNFIDKLRLFTRGGSGGMGYPRLGGEGGKGGDVWVVAQNRMTLKQLKDRYPRKRFVAGVGANSKRTQ" } } ], "pathway": [ { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:85865", "resource": "KEGG Pathway", "id": "hsa:85865", "name": "" } ], "function": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001036182.1", "annotation": "GTPBP10 primarily ensures proper mtLSU maturation and ultimately serves to coordinate mtSSU and mtLSU accumulation", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001036182.1", "id": "NP_001036182.1", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001036182.1", "annotation": "Knock-down of ObgH1 by RNAi induced mitochondria elongation, whereas knock-down of ObgH2 resulted in the disorganization of the nucleolar architecture.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001036182.1", "id": "NP_001036182.1", "database": "RefSeq" } ] }, { "url": "https://www.uniprot.org/uniprot/A4D1E9#function", "annotation": "May be involved in the ribosome maturation process. Complements an ObgE(CgtA) function in E.coli ribosome maturation. Plays a role of GTPase in vitro. When missing, disorganization of the nucleolar architecture is observed.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A4D1E9#function", "id": "A4D1E9", "database": "UniProtKB" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001036182.1", "annotation": "Our results suggest that GTPBP10 is a ribosome biogenesis factor of the mtLSU required for late stages of maturation.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001036182.1", "id": "NP_001036182.1", "database": "RefSeq" } ] } ], "orthologs": [ { "uniprot_canonical_ac": "D4A3U1-1", "protein_name": "GTP-binding protein 10", "sequence": { "length": 369, "sequence": "MVRCGCALLRKYGNFIDNLRIFTKGGSGGMGYPRLGGEGGRGGDVWVVAHKNMTLKQLKNKYPQKRFVAGGGANSRVSALKGSKGKDCEVPAPVGVSVTDENGEVLGELNKEKDRILVAKGGLGGKLHTNFLPLKGQKRIIHLDLKVIADVGLVGFPNAGKSSLLSRVSHATPVIASYAFTTLRPELGKIMYNDFKQISVADLPGLIEGAHMNKGMGHKFLKHLERTRQLLFVVDISGFQLSSVTPYRTAFETIILLTKELELYKEELQTKPALLAVNKMDLPDAQVKLHELMKQLQKPEDFLHLFEAKMIPEKAIEFQHIIPISAVTGEGIEELKNCIRESLDEQDDKENDAFHNKQLLSLQRSGSAS" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/8114", "id": "8114", "database": "MGI" }, { "url": "https://omabrowser.org/oma/group/A4D1E9/", "id": "A4D1E9", "database": "OMA" } ], "common_name": "Rat", "organism": "Rattus norvegicus", "tax_id": 10116 }, { "uniprot_canonical_ac": "Q8K013-1", "protein_name": "GTP-binding protein 10", "sequence": { "length": 366, "sequence": "MVRCGCALLRKYGNFIDNLRIFTKGGSGGMGYPRLGGEGGRGGDVWVVAHKNMTLKQLKNKYPQKRFVAGGGANSRVSALQGSKGKDCEVPAPVGISVTDENGQVLGELNKEEDRVLVAKGGLGGKLHTNFLPLKGQKRIVHLDLKVIADVGLVGFPNAGKSSLLSRVSHATPVIADYAFTTLRPELGKIMYNDFKQISVADLPGLIEGAHMNKGMGHKFLKHLERTRQLLFVVDISGFQLSSVTPYRTAFETIILLTKELELYKEELQTKPALLAINKMDLPDAQVKLQELMKQLLSPEDFLHLFETKMIPEKALEFQHIVPISTVTGEGIAELKSCIRKALDEQDGKESDAHRSKQLLNLQSSS" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/8114", "id": "8114", "database": "MGI" }, { "url": "https://omabrowser.org/oma/group/A4D1E9/", "id": "A4D1E9", "database": "OMA" } ], "common_name": "Mouse", "organism": "Mus musculus", "tax_id": 10090 } ], "interactions": [], "synthesized_glycans": [], "snv": [ { "sequence_org": "K", "start_pos": 104, "alt_nt": "G", "chr_id": "7", "ref_nt": "A", "chr_pos": "89983854", "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/biomuta/proteinview/A4D1E9", "id": "A4D1E9", "database": "BioMuta" } ], "frequency": "1.0", "sequence_mut": "E", "subjects_tested": "103", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (1.0%).", "end_pos": 104, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "N", "start_pos": 110, "alt_nt": "G", "chr_id": "7", "ref_nt": "A", "chr_pos": "89984409", "disease": [ { "synonyms": [ { "id": "DOID:1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "primary breast cancer", "description": "" } ], "recommended_name": { "id": "DOID:1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A4D1E9", "id": "A4D1E9", "database": "BioMuta" } ], "frequency": "2.0", "sequence_mut": "S", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%).", "end_pos": 110, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "A", "start_pos": 179, "alt_nt": "A", "chr_id": "7", "ref_nt": "C", "chr_pos": "90001540", "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/A4D1E9", "id": "A4D1E9", "database": "BioMuta" } ], "frequency": "2.0", "sequence_mut": "E", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. 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