{ "uniprot_canonical_ac": "A5PLN7-1", "ptm_annotation": [], "sequence": { "header": "sp|A5PLN7-1|F149A_HUMAN Isoform 1 of Protein FAM149A OS=Homo sapiens OX=9606 GN=FAM149A PE=2 SV=2 CANONICAL=A5PLN7-1", "length": 773, "sequence": "MKAAVLDLGSLLAKLFETSTAPPAGPSSRPSGGAAAAGSGGSRAGTPLGTAPTLLRALAPDSPSASRRSPAPLLSSPYSRGSAASRAAGAVGTLLSWPSSPRAGKAPPQPPTPSGGGCSPARLVVPARPPSGPGGVWAALPRNPLQPGPGERELGACVAPGAGPRTLFLTLPDIGEEGASDGDSGDGEARGLSEGRRRHGFTVRSKDSLPTHFTRNVQKAIDKYTCKSLSSFSSSGSHTPTGAHTSWSGSATQSSTTGSSTERGSVYSWRDDEFDEASSQSVQRLLWEVEEMLFEGKVNPQTQSLLAECGEWTRRSLHLRVLGRQLILPTDKGVQHFQGSTPASAVHRPPLSACGHSSNIRELCISGSQIVPAALSASALPGPDDTGVADLTARSSLEEEVYHVDGKIEEYFAFDRKEDDDECLEQKPAQPGRKWRKLGLPPVSPRDCVKDAVAAEVFDHVWTNMVELLEELIRKHWETTLTEGKKQRETLKVAGNRFPHVLVPHAHADGASGPPSGHAEAHGISLASRLNPPQIHHFSSSFYSDMNGVMTIQAKPLQRRPAYFADRTQNEKEDKASGGGAGALSSAPHRLGRASDTHGLSPSAKKTPVPWRLPSLASDSQRLKTPNIYSDEVLRGTKLPTGVDHMASPLVQTSRSRFPPLVTETRGQNTAVPGCRLVSYRGRHLQNRVLSAMPDGTERSRLRERTATLERLSRPSTTHTFRQSDTPRKSSLTQMEFAAHTWTGQSILTGSQYVPKSFQRTTLTFKRRFQVTS" }, "uniprot_id": "F149A_HUMAN", "enzyme_annotation": [], "glycation": [], "keywords": [], "species": [ { "evidence": [ { "url": "https://www.uniprot.org/uniprot/A5PLN7", "id": "A5PLN7", "database": "UniProtKB" } ], "name": "Homo sapiens", "taxid": 9606 } ], "publication": [ { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/26600424", "type": [ "PubMed" ], "id": "26600424" } ], "title": "A Preliminary Genome-Wide Association Study of Acute Mountain Sickness Susceptibility in a Group of Nepalese Pilgrims Ascending to 4380 m.", "journal": "High altitude medicine & biology", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001006656.1", "id": "NP_001006656.1", "database": "RefSeq" } ], "authors": "MacInnis MJ, Widmer N, Timulsina U, Subedi A, Siwakoti A, Pandit BP, Freeman MG, Carter EA, Manokhina I, Thapa GB, Koehle MS", "date": "2015" } ], "uniprot_ac": "A5PLN7", "site_annotation": [], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A5PLN7#H0Y965-1", "isoform_ac": "H0Y965-1", "locus": { "end_pos": 186163558, "start_pos": 186167401, "chromosome": "4", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000510843", "id": "ENST00000510843", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000423143", "id": "ENSP00000423143", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|H0Y965-1|F149A_HUMAN Computationally mapped isoform of Protein FAM149A OS=Homo sapiens OX=9606 GN=FAM149A PE=2 SV=1 CANONICAL=A5PLN7-1", "length": 147, "sequence": "XSLASDSQRLKTPNIYSDEVLRGTKLPTGVDHMASPLVQTSRSRFPPLVTETRGQNTAVPGCRLVSYRGRHLQNRVLSAMPDGTERSRLRERTATLERLSRPSTTHTFRQSDTPRKSSLTQMEFAAHTWTGQSILTGGNSKCLGPVA" } }, { "url": "https://www.uniprot.org/uniprot/A5PLN7#D6RC92-1", "isoform_ac": "D6RC92-1", "locus": { "end_pos": 186151960, "start_pos": 186154483, "chromosome": "4", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000504330", "id": "ENST00000504330", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000422330", "id": "ENSP00000422330", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|D6RC92-1|F149A_HUMAN Computationally mapped isoform of Protein FAM149A OS=Homo sapiens OX=9606 GN=FAM149A PE=2 SV=1 CANONICAL=A5PLN7-1", "length": 76, "sequence": "MLFEGKVNPQTQSLLAECGEWTRRSLHLRVLGRQLILPTDKGVQHFQGSTPASAVHRPPLSACGHSSNIRELCISG" } }, { "url": "https://www.uniprot.org/uniprot/A5PLN7#D6RGX1-1", "isoform_ac": "D6RGX1-1", "locus": { "end_pos": 186151960, "start_pos": 186153666, "chromosome": "4", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000509574", "id": "ENST00000509574", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000421136", "id": "ENSP00000421136", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|D6RGX1-1|F149A_HUMAN Computationally mapped isoform of Protein FAM149A OS=Homo sapiens OX=9606 GN=FAM149A PE=2 SV=1 CANONICAL=A5PLN7-1", "length": 36, "sequence": "MLFEGKVNPQTQSLLAECGEWTRRSLHLRVLGRQLI" } }, { "url": "https://www.uniprot.org/uniprot/A5PLN7#A5PLN7-2", "isoform_ac": "A5PLN7-2", "locus": { "end_pos": 186151960, "start_pos": 186171984, "chromosome": "4", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000227065", "id": "ENST00000227065", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000227065", "id": "ENSP00000227065", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A5PLN7-2|F149A_HUMAN Isoform 2 of Protein FAM149A OS=Homo sapiens OX=9606 GN=FAM149A PE=2 SV=2 CANONICAL=A5PLN7-1", "length": 482, "sequence": "MLFEGKVNPQTQSLLAECGEWTRRSLHLRVLGRQLILPTDKGVQHFQGSTPASAVHRPPLSACGHSSNIRELCISGSQIVPAALSASALPGPDDTGVADLTARSSLEEEVYHVDGKIEEYFAFDRKEDDDECLEQKPAQPGRKWRKLGLPPVSPRDCVKDAVAAEVFDHVWTNMVELLEELIRKHWETTLTEGKKQRETLKVAGNRFPHVLVPHAHADGASGPPSGHAEAHGISLASRLNPPQIHHFSSSFYSDMNGVMTIQAKPLQRRPAYFADRTQNEKEDKASGGGAGALSSAPHRLGRASDTHGLSPSAKKTPVPWRLPSLASDSQRLKTPNIYSDEVLRGTKLPTGVDHMASPLVQTSRSRFPPLVTETRGQNTAVPGCRLVSYRGRHLQNRVLSAMPDGTERSRLRERTATLERLSRPSTTHTFRQSDTPRKSSLTQMEFAAHTWTGQSILTGSQYVPKSFQRTTLTFKRRFQVTS" } }, { "url": "https://www.uniprot.org/uniprot/A5PLN7#A5PLN7-3", "isoform_ac": "A5PLN7-3", "locus": {}, "sequence": { "header": "sp|A5PLN7-3|F149A_HUMAN Isoform 3 of Protein FAM149A OS=Homo sapiens OX=9606 GN=FAM149A PE=2 SV=2 CANONICAL=A5PLN7-1", "length": 772, "sequence": "MKAAVLDLGSLLAKLFETSTAPPAGPSSRPSGGAAAAGSGGSRAGTPLGTAPTLLRALAPDSPSASRRSPAPLLSSPYSRGSAASRAAGAVGTLLSWPSSPRAGKAPPQPPTPSGGGCSPARLVVPARPPSGPGGVWAALPRNPLQPGPGERELGACVAPGAGPRTLFLTLPDIGEEGASDGDSGDGEARGLSEGRRRHGFTVRSKDSLPTHFTRNVQKAIDKYTCKSLSSFSSSGSHTPTGAHTSWSGSATQSSTTGSSTERGSVYSWRDDEFDEASSQSVQRLLWEVEEMLFEGKVNPQTQSLLAECGEWTRRSLHLRVLGRQLILPTDKGVQHFQGSTPASAVHRPPLSACGHSSNIRELCISGSQIVPAALSASALPGPDDTGVADLTARSSLEEEVYHVDGKIEEYFAFDRKEDDDECLEQKPAQPGRKWRKLGLPPVSPRDCVKDAVAAEVFDHVWTNMVELLEELIRKHWETTLTEGKKQRETLKVAGNRFPHVLVPHAHADGASGPPSGHAEAHGISLASRLNPPQIHHFSSSFYSDMNGVMTIQAKPLQRRPAYFADRTQNEKEDKASGGGAGALSSAPHRLGRASDTHGLSPSAKKTPVPWRLPSLASDSQRLKTPNIYSDEVLRGTKLPTGVDHMASPLVQTSRSRFPPLVTETRGQNTAVPGCRLVSYRGRHLQNRVLSAMPDGTERSRLRERTATLERLSRPSTTHTFRSDTPRKSSLTQMEFAAHTWTGQSILTGSQYVPKSFQRTTLTFKRRFQVTS" } }, { "url": "https://www.uniprot.org/uniprot/A5PLN7#A5PLN7-1", "isoform_ac": "A5PLN7-1", "locus": { "end_pos": 186105077, "start_pos": 186171984, "chromosome": "4", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000356371", "id": "ENST00000356371", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000348732", "id": "ENSP00000348732", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A5PLN7-1|F149A_HUMAN Isoform 1 of Protein FAM149A OS=Homo sapiens OX=9606 GN=FAM149A PE=2 SV=2 CANONICAL=A5PLN7-1", "length": 773, "sequence": "MKAAVLDLGSLLAKLFETSTAPPAGPSSRPSGGAAAAGSGGSRAGTPLGTAPTLLRALAPDSPSASRRSPAPLLSSPYSRGSAASRAAGAVGTLLSWPSSPRAGKAPPQPPTPSGGGCSPARLVVPARPPSGPGGVWAALPRNPLQPGPGERELGACVAPGAGPRTLFLTLPDIGEEGASDGDSGDGEARGLSEGRRRHGFTVRSKDSLPTHFTRNVQKAIDKYTCKSLSSFSSSGSHTPTGAHTSWSGSATQSSTTGSSTERGSVYSWRDDEFDEASSQSVQRLLWEVEEMLFEGKVNPQTQSLLAECGEWTRRSLHLRVLGRQLILPTDKGVQHFQGSTPASAVHRPPLSACGHSSNIRELCISGSQIVPAALSASALPGPDDTGVADLTARSSLEEEVYHVDGKIEEYFAFDRKEDDDECLEQKPAQPGRKWRKLGLPPVSPRDCVKDAVAAEVFDHVWTNMVELLEELIRKHWETTLTEGKKQRETLKVAGNRFPHVLVPHAHADGASGPPSGHAEAHGISLASRLNPPQIHHFSSSFYSDMNGVMTIQAKPLQRRPAYFADRTQNEKEDKASGGGAGALSSAPHRLGRASDTHGLSPSAKKTPVPWRLPSLASDSQRLKTPNIYSDEVLRGTKLPTGVDHMASPLVQTSRSRFPPLVTETRGQNTAVPGCRLVSYRGRHLQNRVLSAMPDGTERSRLRERTATLERLSRPSTTHTFRQSDTPRKSSLTQMEFAAHTWTGQSILTGSQYVPKSFQRTTLTFKRRFQVTS" } }, { "url": "https://www.uniprot.org/uniprot/A5PLN7#A5PLN7-4", "isoform_ac": "A5PLN7-4", "locus": {}, "sequence": { "header": "sp|A5PLN7-4|F149A_HUMAN Isoform 4 of Protein FAM149A OS=Homo sapiens OX=9606 GN=FAM149A PE=2 SV=2 CANONICAL=A5PLN7-1", "length": 764, "sequence": "MKAAVLDLGSLLAKLFETSTAPPAGPSSRPSGGAAAAGSGGSRAGTPLGTAPTLLRALAPDSPSASRRSPAPLLSSPYSRGSAASRAAGAVGTLLSWPSSPRAGKAPPQPPTPSGGGCSPARLVVPARPPSGPGGVWAALPRNPLQPGPGERELGACVAPGAGPRTLFLTLPDIGEEGASDGDSGDGEARGLSEGRRRHGFTVRSKDSLPTHFTRNVQKAIDKYTCGSHTPTGAHTSWSGSATQSSTTGSSTERGSVYSWRDDEFDEASSQSVQRLLWEVEEMLFEGKVNPQTQSLLAECGEWTRRSLHLRVLGRQLILPTDKGVQHFQGSTPASAVHRPPLSACGHSSNIRELCISGSQIVPAALSASALPGPDDTGVADLTARSSLEEEVYHVDGKIEEYFAFDRKEDDDECLEQKPAQPGRKWRKLGLPPVSPRDCVKDAVAAEVFDHVWTNMVELLEELIRKHWETTLTEGKKQRETLKVAGNRFPHVLVPHAHADGASGPPSGHAEAHGISLASRLNPPQIHHFSSSFYSDMNGVMTIQAKPLQRRPAYFADRTQNEKEDKASGGGAGALSSAPHRLGRASDTHGLSPSAKKTPVPWRLPSLASDSQRLKTPNIYSDEVLRGTKLPTGVDHMASPLVQTSRSRFPPLVTETRGQNTAVPGCRLVSYRGRHLQNRVLSAMPDGTERSRLRERTATLERLSRPSTTHTFRQSDTPRKSSLTQMEFAAHTWTGQSILTGSQYVPKSFQRTTLTFKRRFQVTS" } }, { "url": "https://www.uniprot.org/uniprot/A5PLN7#D6RAL4-1", "isoform_ac": "D6RAL4-1", "locus": { "end_pos": 186151960, "start_pos": 186153741, "chromosome": "4", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000510790", "id": "ENST00000510790", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000421713", "id": "ENSP00000421713", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|D6RAL4-1|F149A_HUMAN Computationally mapped isoform of Protein FAM149A OS=Homo sapiens OX=9606 GN=FAM149A PE=2 SV=1 CANONICAL=A5PLN7-1", "length": 61, "sequence": "MLFEGKVNPQTQSLLAECGEWTRRSLHLRVLGRQLILPTDKGVQHFQGSTPASAVHRPPLS" } }, { "url": "https://www.uniprot.org/uniprot/A5PLN7#H0Y909-1", "isoform_ac": "H0Y909-1", "locus": { "end_pos": 186163559, "start_pos": 186171986, "chromosome": "4", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000512271", "id": "ENST00000512271", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000422722", "id": "ENSP00000422722", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|H0Y909-1|F149A_HUMAN Computationally mapped isoform of Protein FAM149A OS=Homo sapiens OX=9606 GN=FAM149A PE=2 SV=1 CANONICAL=A5PLN7-1", "length": 159, "sequence": "XSLASDSQRLKTPNIYSDEVLRGTKLPTGVDHMASPLVQTSRSRFPPLVTETRGQNTAVPGCRLVSYRGRHLQNRVLSAMPDGTERSRLRERTATLERLSRPSTTHTFRSDTPRKSSLTQMEFAAHTWTGQSILTGSQYVPKSFQRTTLTFKRRFQVTS" } }, { "url": "https://www.uniprot.org/uniprot/A5PLN7#H0Y8Y9-1", "isoform_ac": "H0Y8Y9-1", "locus": { "end_pos": 186167206, "start_pos": 186172044, "chromosome": "4", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000502894", "id": "ENST00000502894", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000422584", "id": "ENSP00000422584", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|H0Y8Y9-1|F149A_HUMAN Computationally mapped isoform of Protein FAM149A OS=Homo sapiens OX=9606 GN=FAM149A PE=2 SV=1 CANONICAL=A5PLN7-1", "length": 53, "sequence": "XLTQMEFAAHTWTGQSILTEDNFDFQEEIPSDILKPPHQNHWSTCGLGTLLIT" } }, { "url": "https://www.uniprot.org/uniprot/A5PLN7#A0A0A0MRZ3-1", "isoform_ac": "A0A0A0MRZ3-1", "locus": { "end_pos": 186151960, "start_pos": 186167011, "chromosome": "4", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000389354", "id": "ENST00000389354", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000374005", "id": "ENSP00000374005", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|A0A0A0MRZ3-1|F149A_HUMAN Computationally mapped isoform of Protein FAM149A OS=Homo sapiens OX=9606 GN=FAM149A PE=2 SV=1 CANONICAL=A5PLN7-1", "length": 402, "sequence": "MLFEGKVNPQTQSLLAECGEWTRRSLHLRVLGRQLILPTDKGVQHFQGSTPASAVHRPPLSACGHSSNIRELCISGSQIVPAALSASALPGPDDTGVADLTARSSLEEEVYHVDGKIEEYFAFDRKEDDDECLEQKPAQPGRKWRKLGLPPVSPRDCVKDAVAAEVFDHVWTNMVELLEELIRKHWETTLTEGKKQRETLKVAGNRFPHVLVPHAHADGASGPPSGHAEAHGISLASRLNPPQIHHFSSSFYSDMNGVMTIQAKPLQRRPAYFADRTQNEKEDKASGGGAGALSSAPHRLGRASDTHGLSPSAKKTPVPWRLPSLASDSQRLKTPNIYSDEVLRGTTADWRGPHGFPTGSNVTEQVPPASHGDQGAEYSSSWMPPCFLQRKASTKPCVECHA" } } ], "pathway": [ { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:25854", "resource": "KEGG Pathway", "id": "hsa:25854", "name": "" } ], "function": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001006656.1", "annotation": "In total, 270,389 single nucleotide polymorphisms passed quality control, and 4 SNPs in the FAM149A gene were associated with Acute Mountain Sickness; however, in the validation cohorts, FAM149A was not associated with the presence or severity of AMS.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001006656.1", "id": "NP_001006656.1", "database": "RefSeq" } ] } ], "orthologs": [ { "uniprot_canonical_ac": "Q8CFV2-1", "protein_name": "Protein FAM149A", "sequence": { "length": 787, "sequence": "MKVAVLDLGSLFAKIFKLSTASPAVSSHPGGAAATGSVDSGASTSLREAETLTLLPSLPPDTAASREPFTPVHTPLPASHPRSSAAAQRVEATGCSGSLPSSSGASIAPPLTPYSGSAGSVASVTLPSPGVDWATLPSVTIPLGSNSVTASSPRNPRQLRAPGEREPSVWMAPGPVPKTLFFTLPDIGEEWTSDSDSQDDPEGRGLSEGLRKQSSEKSKDPLPTNFTRNVQKAIDKFASESPSSFSSSGSRTPTEAHNSWPGSSTQSSTTGLSTERSSVSSWRDDEFDKVSAQKVHQLFWEVEELLFEGKVSPQTQNLLAECSEWARRSLHLRVVGRQLVPPTDEGFQHFQGSLPSSATHEALPHVPDHTSSSRELCISGSQIVPEVHSASALTDPDGTESADLTSCSSLKEEVYHVDGNIEEYFAFDRKQDGDEHLGQSPALRGRKRHRHGLPPISPDDCIRDAVAAEVFDHVWTNVVEILEDLIRKTWESALTGGKKHKEKLKVAENRSPHVLMSRLSTDVCSVPPSRSSDTLQPSLAPHFNPPQFPQLHRFSSNFYSDLSGVMTIQAKPLQQRPTYSADRTQNDQDDKLPGGGVGASSRHRLGRILDARGPQTSVKKTPVHRRLPSIASDPQRLKTPTVYSDEILRGTKLQTGIDYLPSPAAVQTSRSRLPPIGSETGEPNTAASGSRPVSYRGRHPQSRVFSAMPDSIERSPLRERTIVLEQLSRPSTTHTFRSDTPRKGSLTPVEFVAHTWTGQSILTGSQYLPKSYQRATLTARKRFQVAS" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/27540", "id": "27540", "database": "MGI" } ], "organism": "Mus musculus", "tax_id": 10090 }, { "uniprot_canonical_ac": "F1LUX5-1", "protein_name": "Family with sequence similarity 149, member A", "sequence": { "length": 790, "sequence": "MKVAVLDLGSLFAKIFKISTASPAVSSHPGGAAATGSVDSGASTSLREAETLTLLPSLPPDTAASREPFTPVHTPLPASHPRSSAATHRVEAAGCPGSLPSNSGASIALPLAFYSGSVCSLASGALPSSGALPSSGAVWATLPSVTIPLDSNSNAASSPRNPRQLPAPGDPEPSVWMAPGPVPKTLFFTLPDIGEEWTSDSDSQDDPEGRGLSEGIRKHNSEKNKYPLPTNFTRNVQKAIDKFSSESPSSFSSSGSRTPTEAHNSWPDSSTQSSTTGLSTERSSVSSWRDDEFDKVNAQKVQQLFWEVEELLFEGKVSAQTQNLLTECNEWARRSLHLRVLGRQLIPPTDEGFQHFQGILPSSASQKPHVPNHISSTRELCISGSQIVPEVLSASALTDPDGTEQDLTSCSSLKEEVYHMDGNIEEYFAFDRKQDGDEHLEQNPTLRGKKWRQHGLPPISPVDCIRDAVAAEVFDHVWSNVVEILEDLVRKTWESALTDGKKHKEKLKVAESRSPHVLMSRLNTDVCSVPPSRSSETLQPSLAPHFNPPQFPQPHRFSSNFYRDLSGVMTIQAKPLQQRPTYFADRTQNEQDDKLPGGGVGASSRLRLGRVLDTRGPQTSAKKTPVHRRLPSIASDPQRLKTPTVYSDEILRGTKLQTGIDHLPSPAAAQTSRNRLPPIGSEAGEQNTAASGSRPVSYRGRHPQNRVLSAMPDSMEKSPLRERTIVLEQPSRPSTTHTFLSDTPRKGSLTPVDFAAHTWTGQGILTGSQYLPKSYQRVTLTARKRFQVAS" }, "evidence": [ { "url": "https://omabrowser.org/oma/group/A5PLN7/", "id": "A5PLN7", "database": "OMA" }, { "url": "http://www.informatics.jax.org/homology/27540", "id": "27540", "database": "MGI" } ], "organism": "Rattus norvegicus", "tax_id": 10116 } ], "interactions": [], "synthesized_glycans": [], "snv": [ { "sequence_org": "P", "start_pos": 588, "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/A5PLN7", "id": "A5PLN7", "database": "BioMuta" } ], "frequency": "1.1", "sequence_mut": "L", "subjects_tested": "1514", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 588, "annotation": "Somatic mutation passed 2 out of 6 filters: patient freq. (1.1%); patient count (16/1514). In dbSNP: rs201598032." }, { "sequence_org": "D", "start_pos": 271, "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/A5PLN7", "id": "A5PLN7", "database": "BioMuta" } ], "frequency": "1.1", "sequence_mut": "Y", "subjects_tested": "94", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 271, "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (1.1%)." }, { "sequence_org": "S", "start_pos": 260, "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/A5PLN7", "id": "A5PLN7", "database": "BioMuta" } ], "frequency": "1.1", "sequence_mut": "C", "subjects_tested": "94", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 260, "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. 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(2.0%)." }, { "sequence_org": "V", "start_pos": 461, "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." } }, { "synonyms": [ { "id": "363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "CA - cancer of uterus", "description": "" }, { "id": "363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "Tumour of uterus", "description": "" }, { "id": "363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "malignant uterine tumor", "description": "" }, { "id": "363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "neoplasm of uterus", "description": "" }, { "id": "363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "uterine tumor", "description": "" }, { "id": "363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "uterus neoplasm", "description": "" } ], "recommended_name": { "id": "363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." } }, { "synonyms": [ { "id": "1793", "url": "http://disease-ontology.org/term/DOID:1793", "resource": "Disease Ontology", "name": "Ca body of pancreas", "description": "" }, { "id": "1793", "url": "http://disease-ontology.org/term/DOID:1793", "resource": "Disease Ontology", "name": "Ca head of pancreas", "description": "" }, { "id": "1793", "url": "http://disease-ontology.org/term/DOID:1793", "resource": "Disease Ontology", "name": "Ca tail of pancreas", "description": "" }, { "id": "1793", "url": "http://disease-ontology.org/term/DOID:1793", "resource": "Disease Ontology", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "1793", "url": "http://disease-ontology.org/term/DOID:1793", "resource": "Disease Ontology", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "1793", "url": "http://disease-ontology.org/term/DOID:1793", "resource": "Disease Ontology", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "1793", "url": "http://disease-ontology.org/term/DOID:1793", "resource": "Disease Ontology", "name": "pancreas neoplasm", "description": "" }, { "id": "1793", "url": "http://disease-ontology.org/term/DOID:1793", "resource": "Disease Ontology", "name": "pancreatic neoplasm", "description": "" }, { "id": "1793", "url": "http://disease-ontology.org/term/DOID:1793", "resource": "Disease Ontology", "name": "pancreatic tumor", "description": "" } ], "recommended_name": { "id": "1793", "url": "http://disease-ontology.org/term/DOID:1793", "resource": "Disease Ontology", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A5PLN7", "id": "A5PLN7", "database": "BioMuta" } ], "frequency": "0.1", "sequence_mut": "I", "subjects_tested": "1514", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 461, "annotation": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3). 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