{ "uniprot_canonical_ac": "A2RTY3-1", "ptm_annotation": [], "sequence": { "header": "sp|A2RTY3-1|HEAT9_HUMAN Isoform 1 of Protein HEATR9 OS=Homo sapiens OX=9606 GN=HEATR9 PE=2 SV=2 CANONICAL=A2RTY3-1", "length": 570, "sequence": "MAYEKSTDISDVSRSMFLYPWLEYPDKTKELRKAMAPVHLPLSCYQMPKEEFPPSPECWRQHPSKPNSVPYCYFKKPEIYTHWHDLYDQREEREAEKMLRKMRDDCRYIKEVHQTHIKMFHLPMSKLTIKSEMRSRPLEPTQDPLKWQRLRELTKSLESPREDEQFYAAQALGCLRISDKFVMEALQQVAQTGPEKVKYEAYRTLAILGCLNKHVIRALIKQLKEKNEGQRMETLTGLRMALNSWAAVSKDKRTQVGDEGKLVPVLQTLIKKSSSEASLEAALCLGFLRPCSNMVQEFLLQCLCQGLKTQRMKALRMLVKVMHVHSAPVIKAILDQLCSSSVLEDRFEATQMLKTIGLEQIQAQGLEELTFNLLRRKTHNEPFLAVRQAVAQTVEELKLKPTMMNLVEAQLMNPDATARQEAVISLGVLGIRSPQVFHLLLDLLDAENHQAVKKSLQETLILCASIDPWIQNKLKNKVLSVYEAPKTNVKAEPTRFQKEPENPEELTIQDFRLAKLNPLFIAKSITKVGQKKTPAFPPCCSKPRKHRPQVIGPWQPRIKKQLRVLAEIAK" }, "uniprot_id": "HEAT9_HUMAN", "enzyme_annotation": [], "glycation": [], "keywords": [], "species": [ { "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RTY3", "id": "A2RTY3", "database": "UniProtKB" } ], "name": "Homo sapiens", "taxid": 9606 } ], "publication": [ { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/16959974", "type": [ "PubMed" ], "id": "16959974" } ], "title": "The consensus coding sequences of human breast and colorectal cancers.", "journal": "Science", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RTY3", "id": "A2RTY3", "database": "UniProtKB" } ], "authors": "Bachman K.E., Barber T.D., Buckhaults P., Dawson D., Farrell C., Gazdar A.F., Hartigan J., Jones S., Kinzler K.W., Leary R.J., Lin J., Liu C., Mandelker D., Markowitz S.D., Meeh P., Papadopoulos N., Park B.H., Parmigiani G., Parsons D.W., Ptak J., Silliman N., Sjoeblom T., Szabo S., Velculescu V.E., Vogelstein B., Willis J., Willson J.K.V., Wood L.D., Wu L.", "date": "2006" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/20237496", "type": [ "PubMed" ], "id": "20237496" } ], "title": "New genetic associations detected in a host response study to hepatitis B vaccine.", "journal": "Genes and immunity", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001308324.1", "id": "NP_001308324.1", "database": "RefSeq" } ], "authors": "Davila S, Froeling FE, Tan A, Bonnard C, Boland GJ, Snippe H, Hibberd ML, Seielstad M", "date": "2010" } ], "uniprot_ac": "A2RTY3", "site_annotation": [], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A2RTY3#A2RTY3-2", "isoform_ac": "A2RTY3-2", "locus": {}, "sequence": { "header": "sp|A2RTY3-2|HEAT9_HUMAN Isoform 2 of Protein HEATR9 OS=Homo sapiens OX=9606 GN=HEATR9 PE=2 SV=2 CANONICAL=A2RTY3-1", "length": 219, "sequence": "MAYEKSTDISDVSRSMFLYPWLEYPDKTKELRKAMAPVHLPLSCYQMPKEEFPPSPECWRQHPSKPNSVPYCYFKKPEIYTHWHDLYDQREEREAEKMLRKMRDDCRYIKEVHQTHIKMFHLPMSKLTIKSEMRSRPLEPTQDPLKWQRLRELTKSLESPREDEQFYAAQALGCLRISDKFVMEALQQVVSLRTAGVQERRKQGLRCVACGHRRGSPGC" } }, { "url": "https://www.uniprot.org/uniprot/A2RTY3#A2RTY3-3", "isoform_ac": "A2RTY3-3", "locus": { "end_pos": 35855066, "start_pos": 35868742, "chromosome": "17", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000603870", "id": "ENST00000603870", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000473760", "id": "ENSP00000473760", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A2RTY3-3|HEAT9_HUMAN Isoform 3 of Protein HEATR9 OS=Homo sapiens OX=9606 GN=HEATR9 PE=2 SV=2 CANONICAL=A2RTY3-1", "length": 530, "sequence": "MAYEKSTDISDVSRSMFLYPWLEYPDKTKELRKAMAPVHLPLSCYQMPKEEFPPSPECWRQHPSKPNSVPYCYFKKPEIYTHWHDLYDQREEREAEKMLRKMRDDCRYIKEELTKSLESPREDEQFYAAQALGCLRISDKFVMEALQQVAQTGPEKVKYEAYRTLAILGCLNKHVIRALIKQLKEKNEGQRMETLTGLRMALNSWAAVSKDKRTQVGDEGKLVPVLQTLIKKSSSEASLEAALCLGFLRPCSNMVQEFLLQCLCQGLKTQRMKALRMLVKVMHVHSAPVIKAILDQLCSSSVLEDRFEATQMLKTIGLEQIQAQGLEELTFNLLRRKTHNEPFLAVRQAVAQTVEELKLKPTMMNLVEAQLMNPDATARQEAVISLGVLGIRSPQVFHLLLDLLDAENHQAVKKSLQETLILCASIDPWIQNKLKNKVLSVYEAPKTNVKAEPTRFQKEPENPEELTIQDFRLAKLNPLFIAKSITKVGQKKTPAFPPCCSKPRKHRPQVIGPWQPRIKKQLRVLAEIAK" } }, { "url": "https://www.uniprot.org/uniprot/A2RTY3#A2RTY3-1", "isoform_ac": "A2RTY3-1", "locus": { "end_pos": 35855066, "start_pos": 35868742, "chromosome": "17", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000604834", "id": "ENST00000604834", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000473941", "id": "ENSP00000473941", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A2RTY3-1|HEAT9_HUMAN Isoform 1 of Protein HEATR9 OS=Homo sapiens OX=9606 GN=HEATR9 PE=2 SV=2 CANONICAL=A2RTY3-1", "length": 570, "sequence": "MAYEKSTDISDVSRSMFLYPWLEYPDKTKELRKAMAPVHLPLSCYQMPKEEFPPSPECWRQHPSKPNSVPYCYFKKPEIYTHWHDLYDQREEREAEKMLRKMRDDCRYIKEVHQTHIKMFHLPMSKLTIKSEMRSRPLEPTQDPLKWQRLRELTKSLESPREDEQFYAAQALGCLRISDKFVMEALQQVAQTGPEKVKYEAYRTLAILGCLNKHVIRALIKQLKEKNEGQRMETLTGLRMALNSWAAVSKDKRTQVGDEGKLVPVLQTLIKKSSSEASLEAALCLGFLRPCSNMVQEFLLQCLCQGLKTQRMKALRMLVKVMHVHSAPVIKAILDQLCSSSVLEDRFEATQMLKTIGLEQIQAQGLEELTFNLLRRKTHNEPFLAVRQAVAQTVEELKLKPTMMNLVEAQLMNPDATARQEAVISLGVLGIRSPQVFHLLLDLLDAENHQAVKKSLQETLILCASIDPWIQNKLKNKVLSVYEAPKTNVKAEPTRFQKEPENPEELTIQDFRLAKLNPLFIAKSITKVGQKKTPAFPPCCSKPRKHRPQVIGPWQPRIKKQLRVLAEIAK" } }, { "url": "https://www.uniprot.org/uniprot/A2RTY3#A2RTY3-4", "isoform_ac": "A2RTY3-4", "locus": { "end_pos": 35856342, "start_pos": 35866759, "chromosome": "17", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000633642", "id": "ENST00000633642", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000487778", "id": "ENSP00000487778", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A2RTY3-4|HEAT9_HUMAN Isoform 4 of Protein HEATR9 OS=Homo sapiens OX=9606 GN=HEATR9 PE=2 SV=2 CANONICAL=A2RTY3-1", "length": 380, "sequence": "MAPVHLPLSCYQMPKEEFPPSPECWRQHPSKPNSVPYCYFKKPEIYTHWHDLYDQREEREAEKMLRKMRDDCRYIKEVHQTHIKMFHLPMSKLTIKSEMRSRPLEPTQDPLKWQRLRELTKSLESPREDEQFYAAQALGCLRISDKFVMEALQQVAQTGPEKVKYEAYRTLAILGCLNKHVIRALIKQLKEKNEGQRMETLTGLRMALNSWAAVSKDKRTQVGDEGKLVPVLQTLIKKSSSEASLEAALCLGFLRPCSNMVQEFLLQCLCQGLKTQRMKALRMLVKVMHVHSAPVIKAILDQLCSSSVLEDRFEATQMLKTIGLEQIQAQGLEELTFNLLRRKTHNEPFLAVRQAVAQTVEELKLKPTMMNLVEANKRRK" } }, { "url": "https://www.uniprot.org/uniprot/A2RTY3#A2RTY3-5", "isoform_ac": "A2RTY3-5", "locus": { "end_pos": 35856342, "start_pos": 35866759, "chromosome": "17", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000632179", "id": "ENST00000632179", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000488053", "id": "ENSP00000488053", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A2RTY3-5|HEAT9_HUMAN Isoform 5 of Protein HEATR9 OS=Homo sapiens OX=9606 GN=HEATR9 PE=2 SV=2 CANONICAL=A2RTY3-1", "length": 340, "sequence": "MAPVHLPLSCYQMPKEEFPPSPECWRQHPSKPNSVPYCYFKKPEIYTHWHDLYDQREEREAEKMLRKMRDDCRYIKEELTKSLESPREDEQFYAAQALGCLRISDKFVMEALQQVAQTGPEKVKYEAYRTLAILGCLNKHVIRALIKQLKEKNEGQRMETLTGLRMALNSWAAVSKDKRTQVGDEGKLVPVLQTLIKKSSSEASLEAALCLGFLRPCSNMVQEFLLQCLCQGLKTQRMKALRMLVKVMHVHSAPVIKAILDQLCSSSVLEDRFEATQMLKTIGLEQIQAQGLEELTFNLLRRKTHNEPFLAVRQAVAQTVEELKLKPTMMNLVEANKRRK" } }, { "url": "https://www.uniprot.org/uniprot/A2RTY3#A0A075B7D1-1", "isoform_ac": "A0A075B7D1-1", "locus": { "end_pos": 35864273, "start_pos": 35868742, "chromosome": "17", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000603218", "id": "ENST00000603218", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000474337", "id": "ENSP00000474337", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|A0A075B7D1-1|HEAT9_HUMAN Computationally mapped isoform of Protein HEATR9 OS=Homo sapiens OX=9606 GN=HEATR9 PE=2 SV=1 CANONICAL=A2RTY3-1", "length": 140, "sequence": "MAYEKSTDISDVSRSMFLYPWLEYPDKTKELRKAMAPVHLPLSCYQMPKEEFPPSPECWRQHPSKPNSVPYCYFKKPEIYTHWHDLYDQREEREAEKMLRKMRDDCRYIKEELTKSLESPREDEQFYAAQALGCLRISDK" } }, { "url": "https://www.uniprot.org/uniprot/A2RTY3#A0A075B7D3-1", "isoform_ac": "A0A075B7D3-1", "locus": { "end_pos": 35859022, "start_pos": 35868742, "chromosome": "17", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000603323", "id": "ENST00000603323", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000474391", "id": "ENSP00000474391", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|A0A075B7D3-1|HEAT9_HUMAN Computationally mapped isoform of Protein HEATR9 OS=Homo sapiens OX=9606 GN=HEATR9 PE=2 SV=1 CANONICAL=A2RTY3-1", "length": 283, "sequence": "MAYEKSTDISDVSRSMFLYPWLEYPDKTKELRKAMAPVHLPLSCYQMPKEEFPPSPECWRQHPSKPNSVPYCYFKKPEIYTHWHDLYDQREEREAEKMLRKMRDDCRYIKEVHQTHIKMFHLPMSKLTIKSEMRSRPLEPTQDPLKWQRLRELTKSLESPREDEQFYAAQALGCLRISDKFVMEALQQVAQTGPEKVKYEAYRTLAILGCLNKHVIRALIKQLKEKNEGQRMETLTGLRMALNSWAAVSKDKVIGRTVFNWGQSWTRGLKSGMRASWCLYYRH" } } ], "pathway": [ { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:256957", "resource": "KEGG Pathway", "id": "hsa:256957", "name": "" } ], "function": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001308324.1", "annotation": "Observational study of gene-disease association. (HuGE Navigator)", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001308324.1", "id": "NP_001308324.1", "database": "RefSeq" } ] } ], "orthologs": [ { "uniprot_canonical_ac": "Q5QNV8-1", "protein_name": "Protein HEATR9", "sequence": { "length": 569, "sequence": "MESQEKQADFFQIPKSMDYRNRNKKFRKAMAPVHLPLSCYKVPKEAFPPSPECWRVHPSRPNATPCLHLDKKPDLFTHWRTLNEQRKERESKSLFWKRRNFPRYFKDSAQMPNLHVSISKLTLKPKEGPGLLDPTKDPLKWQRLKELTNGLNSPQEDEQCYAAYALGHLGISNKFVMEALWQVAQTGSTKVKNEAYKSLASLGCLDKSVIKAFIKQLMEHKESQRLETLVGLRVALNSWAAMPKNKKPEVPYEEKLVLLLQNLIYKPLNEESLEAALCLGFLRPSNSIVQQFLLQCLSKGSMSQRMKALRMLVKMMNVHSAAVTRAILEQLHSNVIDDRLEATQMLKTVGLEKIQAQGLVKLTFDLLKRKMYSEPFQVIRQAVSETVDVLKMKPLIMKLMEAQLMSPDVSDRQEAIISLGALGIRNEKVFHLLLDMLDAEETKSVKKSIQETLLVWASRNPWIQNKLTNKVFFVYDIPKAVKTEHTRFRKKPESPDDLCITDFRRAKLNPLFITKAYNKLGEKLEAPAFSFYFSKPKKQRPQATGPWEPKIREQLRNMVLPQNRFLFWL" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/51895", "id": "51895", "database": "MGI" }, { "url": "https://omabrowser.org/oma/group/A2RTY3/", "id": "A2RTY3", "database": "OMA" } ], "organism": "Mus musculus", "tax_id": 10090 }, { "uniprot_canonical_ac": "A0A096MJ97-1", "protein_name": "HEAT repeat-containing 9", "sequence": { "length": 567, "sequence": "MGHEKQVNFSQFPKPMFNYPWLDYRNRNKKFRKAMAPVHLPLSCYKLPKEAFPPSPECWREHPSRPNATPCLHLKKHPDLITHWSTLYDQRKERESKKMLWRRRNLTSSQLSNLHVSISKLTLKPKVERSLLDATKDPLKWQRLKELTNSLNSPQEDEQCYAAYALGNLGVNKKFVMESLQQAARTGSAKVKAEIYKALAILGCLDKSVVKALIKQLMEQKESQRLETLVVLRVALNAWAAVPKSKRPKFGNEEKLVPLLQTLIDKSLNEEESLEAALCLGFLRPSNSMVQQFLIQCLCQGSMPQRMKALRMLVKMMNVHSAAVTRAILDQLHSNVIDDRLEATQMLKTIGLEKIQAQGLEELTFDLLKKKMHNEPFQVMRQAVSETVDVLKMKPLIMKLMEEQLMSPDVTERQEAIISLGALGFRNEQVFHLLLDMLDADETKTVKKSIQETLLIWASRNPWIRNKLTNKVFFVYDVPKTVKVEPTRFQKEPESLDNLCITDFRRVKLSTLSIAKSCNKLGGKLEAPAFSFYFSKPKKEMPKATGPWEPKIRQQLRNLVLSQNRFV" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/51895", "id": "51895", "database": "MGI" }, { "url": "https://omabrowser.org/oma/group/A2RTY3/", "id": "A2RTY3", "database": "OMA" } ], "organism": "Rattus norvegicus", "tax_id": 10116 } ], "interactions": [], "synthesized_glycans": [], "snv": [ { "sequence_org": "H", "start_pos": 84, "subjects_positive": "16", "disease": [ { "synonyms": [], "recommended_name": { "id": "1324", "url": "http://disease-ontology.org/term/DOID:1324", "resource": "Disease Ontology", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RTY3", "id": "A2RTY3", "database": "BioMuta" } ], "frequency": "1.1", "sequence_mut": "Q", "subjects_tested": "1514", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 84, "annotation": "Somatic mutation passed 2 out of 6 filters: patient freq. (1.1%); patient count (16/1514)." }, { "sequence_org": "P", "start_pos": 63, "subjects_positive": "1", "disease": [ { "synonyms": [ { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid neoplasm", "description": "" } ], "recommended_name": { "id": "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/A2RTY3", "id": "A2RTY3", "database": "BioMuta" } ], "frequency": "2.0", "sequence_mut": "R", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 63, "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%)." }, { "sequence_org": "R", "start_pos": 432, "subjects_positive": "1", "disease": [ { "synonyms": [ { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid neoplasm", "description": "" } ], "recommended_name": { "id": "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/A2RTY3", "id": "A2RTY3", "database": "BioMuta" } ], "frequency": "2.0", "sequence_mut": "L", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 432, "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%)." }, { "sequence_org": "H", "start_pos": 84, "subjects_positive": "1", "disease": [ { "synonyms": [], "recommended_name": { "id": "1324", "url": "http://disease-ontology.org/term/DOID:1324", "resource": "Disease Ontology", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RTY3", "id": "A2RTY3", "database": "BioMuta" } ], "frequency": "1.5", "sequence_mut": "L", "subjects_tested": "66", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 84, "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (1.5%)." }, { "sequence_org": "S", "start_pos": 341, "subjects_positive": "1", "disease": [ { "synonyms": [], "recommended_name": { "id": "9256", "url": "http://disease-ontology.org/term/DOID:9256", "resource": "Disease Ontology", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RTY3", "id": "A2RTY3", "database": "BioMuta" } ], "frequency": "1.1", "sequence_mut": "N", "subjects_tested": "94", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 341, "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (1.1%)." }, { "sequence_org": "S", "start_pos": 480, "subjects_positive": "1", "disease": [ { "synonyms": [ { "id": "1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "breast tumor", "description": "" }, { "id": "1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "malignant neoplasm of breast", "description": "" }, { "id": "1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "malignant tumor of the breast", "description": "" }, { "id": "1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "mammary cancer", "description": "" }, { "id": "1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "mammary tumor", "description": "" }, { "id": "1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "primary breast cancer", "description": "" } ], "recommended_name": { "id": "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/A2RTY3", "id": "A2RTY3", "database": "BioMuta" } ], "frequency": "2.0", "sequence_mut": "F", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 480, "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%)." }, { "sequence_org": "Q", "start_pos": 188, "subjects_positive": "1", "disease": [ { "synonyms": [ { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid neoplasm", "description": "" } ], "recommended_name": { "id": "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/A2RTY3", "id": "A2RTY3", "database": "BioMuta" } ], "frequency": "2.0", "sequence_mut": "R", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 188, "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. 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35854946, "start_pos": 35868891, "chromosome": "17", "evidence": [ { "url": "https://www.ensembl.org/id/ENSG00000270379", "id": "ENSG00000270379", "database": "Ensembl Gene" } ] } } ], "protein_names": [ { "url": "https://www.uniprot.org/uniprot/A2RTY3", "type": "synonym", "resource": "UniProtKB", "name": "HEAT repeat-containing protein 9" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A2RTY3", "type": "synonym", "resource": "RefSeq", "name": "protein HEATR9 isoform 2" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A2RTY3", "type": "synonym", "resource": "RefSeq", "name": "HEAT repeat-containing protein 9; protein HEATR9" }, { "url": "https://www.uniprot.org/uniprot/A2RTY3", "type": "recommended", "resource": "UniProtKB", "name": "Protein HEATR9" } ] }