{ "uniprot_canonical_ac": "A1L0T0-1", "ptm_annotation": [], "sequence": { "header": "sp|A1L0T0-1|ILVBL_HUMAN Isoform 1 of Acetolactate synthase-like protein OS=Homo sapiens OX=9606 GN=ILVBL PE=1 SV=2 CANONICAL=A1L0T0-1", "length": 632, "sequence": "METPAAAAPAGSLFPSFLLLACGTLVAALLGAAHRLGLFYQLLHKVDKASVRHGGENVAAVLRAHGVRFIFTLVGGHISPLLVACEKLGIRVVDTRHEVTAVFAADAMARLSGTVGVAAVTAGPGLTNTVTAVKNAQMAQSPILLLGGAASTLLQNRGALQAVDQLSLFRPLCKFCVSVRRVRDIVPTLRAAMAAAQSGTPGPVFVELPVDVLYPYFMVQKEMVPAKPPKGLVGRVVSWYLENYLANLFAGAWEPQPEGPLPLDIPQASPQQVQRCVEILSRAKRPLMVLGSQALLTPTSADKLRAAVETLGVPCFLGGMARGLLGRNHPLHIRENRSAALKKADVIVLAGTVCDFRLSYGRVLSHSSKIIIVNRNREEMLLNSDIFWKPQEAVQGDVGSFVLKLVEGLQGQTWAPDWVEELREADRQKEQTFREKAAMPVAQHLNPVQVLQLVEETLPDNSILVVDGGDFVGTAAHLVQPRGPLRWLDPGAFGTLGVGAGFALGAKLCRPDAEVWCLFGDGAFGYSLIEFDTFVRHKIPVMALVGNDAGWTQISREQVPSLGSNVACGLAYTDYHKAAMGLGARGLLLSRENEDQVVKVLHDAQQQCRDGHPVVVNILIGRTDFRDGSIAV" }, "uniprot_id": "ILVBL_HUMAN", "enzyme_annotation": [ { "ec": "2.2.1.-", "activity": "" } ], "glycation": [], "keywords": [ "glycoprotein", "reported_with_glycan.glygen_ds" ], "species": [ { "common_name": "Human", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1L0T0", "id": "A1L0T0", "database": "UniProtKB" } ], "name": "Homo sapiens", "taxid": 9606 } ], "publication": [ { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/29246216", "type": [ "PubMed" ], "id": "29246216" } ], "title": "Association analysis of ILVBL gene polymorphisms with aspirin-exacerbated respiratory disease in asthma.", "journal": "BMC pulmonary medicine", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006835.2", "id": "NP_006835.2", "database": "RefSeq" } ], "authors": "Chang HS, Park JS, Lee HS, Lyu J, Son JH, Choi IS, Shin HD, Park CS", "date": "2017" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/29351928", "type": [ "PubMed" ], "id": "29351928" } ], "title": "Mapping and Quantification of Over 2000 O-linked Glycopeptides in Activated Human T Cells with Isotope-Targeted Glycoproteomics (Isotag).", "journal": "Molecular & cellular proteomics : MCP", "evidence": [ { "url": "https://data.glygen.org/GLYDS000517", "id": "GLYDS000517", "database": "GlyGen" } ], "authors": "Woo CM, Lund PJ, Huang AC, Davis MM, Bertozzi CR, Pitteri SJ", "date": "2018" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/8954801", "type": [ "PubMed" ], "id": "8954801" } ], "title": "A human homolog of bacterial acetolactate synthase genes maps within the CADASIL critical region.", "journal": "Genomics", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1L0T0", "id": "A1L0T0", "database": "UniProtKB" } ], "authors": "Cruaud C., Tournier-Lasserve E., Bousser M.G., Ducros A., Joutel A., Vahedi K., Alamowitch S., Chabriat H., Domenga V., Marechal E.", "date": "1996" } ], "uniprot_ac": "A1L0T0", "site_annotation": [ { "end_pos": 338, "annotation": "n_glycosylation_sequon", "start_pos": 336 } ], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A1L0T0#A1L0T0-1", "isoform_ac": "A1L0T0-1", "locus": { "end_pos": 15115255, "strand": "+", "start_pos": 15125059, "chromosome": "19", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000263383", "id": "ENST00000263383", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000263383", "id": "ENSP00000263383", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A1L0T0-1|ILVBL_HUMAN Isoform 1 of Acetolactate synthase-like protein OS=Homo sapiens OX=9606 GN=ILVBL PE=1 SV=2 CANONICAL=A1L0T0-1", "length": 632, "sequence": "METPAAAAPAGSLFPSFLLLACGTLVAALLGAAHRLGLFYQLLHKVDKASVRHGGENVAAVLRAHGVRFIFTLVGGHISPLLVACEKLGIRVVDTRHEVTAVFAADAMARLSGTVGVAAVTAGPGLTNTVTAVKNAQMAQSPILLLGGAASTLLQNRGALQAVDQLSLFRPLCKFCVSVRRVRDIVPTLRAAMAAAQSGTPGPVFVELPVDVLYPYFMVQKEMVPAKPPKGLVGRVVSWYLENYLANLFAGAWEPQPEGPLPLDIPQASPQQVQRCVEILSRAKRPLMVLGSQALLTPTSADKLRAAVETLGVPCFLGGMARGLLGRNHPLHIRENRSAALKKADVIVLAGTVCDFRLSYGRVLSHSSKIIIVNRNREEMLLNSDIFWKPQEAVQGDVGSFVLKLVEGLQGQTWAPDWVEELREADRQKEQTFREKAAMPVAQHLNPVQVLQLVEETLPDNSILVVDGGDFVGTAAHLVQPRGPLRWLDPGAFGTLGVGAGFALGAKLCRPDAEVWCLFGDGAFGYSLIEFDTFVRHKIPVMALVGNDAGWTQISREQVPSLGSNVACGLAYTDYHKAAMGLGARGLLLSRENEDQVVKVLHDAQQQCRDGHPVVVNILIGRTDFRDGSIAV" } }, { "url": "https://www.uniprot.org/uniprot/A1L0T0#E9PJS0-1", "isoform_ac": "E9PJS0-1", "locus": { "end_pos": 15120012, "strand": "+", "start_pos": 15125059, "chromosome": "19", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000527093", "id": "ENST00000527093", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000435516", "id": "ENSP00000435516", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|E9PJS0-1|ILVBL_HUMAN Computationally mapped isoform of Acetolactate synthase-like protein OS=Homo sapiens OX=9606 GN=ILVBL PE=1 SV=1 CANONICAL=A1L0T0-1", "length": 262, "sequence": "METPAAAAPAGSLFPSFLLLACGTLVAALLGAAHRLGLFYQLLHKVDKASVRHGGENVAAVLRAHGVRFIFTLVGGHISPLLVACEKLGIRVVDTRHEVTAVFAADAMARLSGTVGVAAVTAGPGLTNTVTAVKNAQMAQSPILLLGGAASTLLQNRGALQAVDQLSLFRPLCKFCVSVRRVRDIVPTLRAAMAAAQSGTPGPVFVELPVDVLYPYFMVQKEMVPAKPPKGLVGRVVSWYLENYLANLFAGAWEPQPEGPLP" } }, { "url": "https://www.uniprot.org/uniprot/A1L0T0#E9PL44-1", "isoform_ac": "E9PL44-1", "locus": { "end_pos": 15122998, "strand": "+", "start_pos": 15125059, "chromosome": "19", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000533747", "id": "ENST00000533747", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000433355", "id": "ENSP00000433355", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|E9PL44-1|ILVBL_HUMAN Computationally mapped isoform of Acetolactate synthase-like protein OS=Homo sapiens OX=9606 GN=ILVBL PE=1 SV=1 CANONICAL=A1L0T0-1", "length": 166, "sequence": "METPAAAAPAGSLFPSFLLLACGTLVAALLGAAHRLGLFYQLLHKVDKASVRHGGENVAAVLRAHGVRFIFTLVGGHISPLLVACEKLGIRVVDTRHEVTAVFAADAMARLSGTVGVAAVTAGPGLTNTVTAVKNAQMAQSPILLLGGAASTLLQNRGALQAVDQL" } }, { "url": "https://www.uniprot.org/uniprot/A1L0T0#E9PNL1-1", "isoform_ac": "E9PNL1-1", "locus": { "end_pos": 15123223, "strand": "+", "start_pos": 15125059, "chromosome": "19", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000533148", "id": "ENST00000533148", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000434734", "id": "ENSP00000434734", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|E9PNL1-1|ILVBL_HUMAN Computationally mapped isoform of Acetolactate synthase-like protein OS=Homo sapiens OX=9606 GN=ILVBL PE=1 SV=1 CANONICAL=A1L0T0-1", "length": 52, "sequence": "METPAAAAPAGSLFPSFLLLACGTLVAALLGAAHRLGLFYQLLHKGRWAWRQ" } }, { "url": "https://www.uniprot.org/uniprot/A1L0T0#M0QZX5-1", "isoform_ac": "M0QZX5-1", "locus": { "end_pos": 15116285, "strand": "+", "start_pos": 15122757, "chromosome": "19", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000598709", "id": "ENST00000598709", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000470834", "id": "ENSP00000470834", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|M0QZX5-1|ILVBL_HUMAN Computationally mapped isoform of Acetolactate synthase-like protein OS=Homo sapiens OX=9606 GN=ILVBL PE=1 SV=8 CANONICAL=A1L0T0-1", "length": 229, "sequence": "MVQKEMVPAKPPKGLVGRVVSWYLENYLANLFAGAWEPQPEGPLPLDIPQASPQQVQRCVEILSRAKRPLMVLGSQALLTPTSADKLRAAVETLGVPCFLGGMARGLLGRNHPLHIRENRSAALKKADVIVLAGTVCDFRLSYGRVLSHSSKIIIVNRNREEMLLNSDIFWKPQEAVQGDVGSFVLKLVEGLQGQTWAPDWVEELREADRQKEQTFREKAAMPVAQHLN" } }, { "url": "https://www.uniprot.org/uniprot/A1L0T0#M0R026-1", "isoform_ac": "M0R026-1", "locus": { "end_pos": 15115255, "strand": "+", "start_pos": 15123390, "chromosome": "19", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000534378", "id": "ENST00000534378", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000470942", "id": "ENSP00000470942", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|M0R026-1|ILVBL_HUMAN Computationally mapped isoform of Acetolactate synthase-like protein OS=Homo sapiens OX=9606 GN=ILVBL PE=1 SV=1 CANONICAL=A1L0T0-1", "length": 525, "sequence": "MARLSGTVGVAAVTAGPGLTNTVTAVKNAQMAQSPILLLGGAASTLLQNRGALQAVDQLSLFRPLCKFCVSVRRVRDIVPTLRAAMAAAQSGTPGPVFVELPVDVLYPYFMVQKEMVPAKPPKGLVGRVVSWYLENYLANLFAGAWEPQPEGPLPLDIPQASPQQVQRCVEILSRAKRPLMVLGSQALLTPTSADKLRAAVETLGVPCFLGGMARGLLGRNHPLHIRENRSAALKKADVIVLAGTVCDFRLSYGRVLSHSSKIIIVNRNREEMLLNSDIFWKPQEAVQGDVGSFVLKLVEGLQGQTWAPDWVEELREADRQKEQTFREKAAMPVAQHLNPVQVLQLVEETLPDNSILVVDGGDFVGTAAHLVQPRGPLRWLDPGAFGTLGVGAGFALGAKLCRPDAEVWCLFGDGAFGYSLIEFDTFVRHKIPVMALVGNDAGWTQISREQVPSLGSNVACGLAYTDYHKAAMGLGARGLLLSRENEDQVVKVLHDAQQQCRDGHPVVVNILIGRTDFRDGSIAV" } }, { "url": "https://www.uniprot.org/uniprot/A1L0T0#M0R1B5-1", "isoform_ac": "M0R1B5-1", "locus": { "end_pos": 15119982, "strand": "+", "start_pos": 15123390, "chromosome": "19", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000600984", "id": "ENST00000600984", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000471762", "id": "ENSP00000471762", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|M0R1B5-1|ILVBL_HUMAN Computationally mapped isoform of Acetolactate synthase-like protein OS=Homo sapiens OX=9606 GN=ILVBL PE=1 SV=8 CANONICAL=A1L0T0-1", "length": 165, "sequence": "MARLSGTVGVAAVTAGPGLTNTVTAVKNAQMAQSPILLLGGAASTLLQNRGALQAVDQLSLFRPLCKFCVSVRRVRDIVPTLRAAMAAAQSGTPGPVFVELPVDVLYPYFMVQKEMVPAKPPKGLVGRVVSWYLENYLANLFAGAWEPQPEGPLPLDIPQASPQQ" } } ], "pathway": [ { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:10994", "resource": "KEGG Pathway", "id": "hsa:10994", "name": "" } ], "function": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006835.2", "annotation": "To the best of our knowledge, this is the first report of an association between single nucleotide polymorphisms (SNPs) on ILVBL and aspirin-exacerbated respiratory disease (AERD) . SNPs on ILVBL could be promising genetic markers of this condition. Publication Status: Online-Only", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006835.2", "id": "NP_006835.2", "database": "RefSeq" } ] } ], "orthologs": [ { "uniprot_canonical_ac": "D4ACG2-1", "protein_name": "IlvB (Bacterial acetolactate synthase)-like (Predicted), isoform CRA_c", "sequence": { "length": 672, "sequence": "MGAWPCDSMMLARGGLSAEVESCVEEGGFPVGSLINRFFLMETTAAAASAGGFFPSFLLLAFGTLVAAVLGAAHRLGLFYQLMHKVDKTSIRHGGESVAAVLRAHGVRFVFTLVGGHISPLLVACEKLGIRVVDTRHEVTAVFAADAVARLTGTVGVAAVTAGPGLTNTVTAVKNAQVAQSPVLLLGGAASTLLQKRGALQAIDQMSLFRPLCKFCASVRRVRDIVPTLRAAMAAAQSGTPGPVFVELPLDVLYPYFMVEKEMIPAQLPKGLMGRVVVWYLQNCLANLFAGAWEPRPEGPLPLDIPQASPQQVQRCVEILSRAKRPLLVLGSQALLPPTPANKLRAAVETLGVPCFLGGMSRGLLGRNHPLHIRQNRSAALKKADVVVLAGAVCDFRLSYGRVLNRKSSIIIVNRNRDDMLLNSDIFWKPQEAVQGDVGSFMIKLVEGLQGQTWSSDWVEELRKADQQKEQTYRDKALLPVPQHLNPVRLLQQVEETLPDNALLVVDGGDFVATAAYLVQPRGPLRWLDPGAFGTLGVGAGFALGAKLCQPEAEVWCLFGDGAFGYSLIEFDTFVRHKVPVIALVGNDAGWTQISREQVPRLGSDVACSLAYTDYHKAAMGLGAQGLILSRDNEDQVVKVLRDGQKLCQEGHAVVVNILIGRTDFRDGSISV" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/68532", "id": "68532", "database": "MGI" }, { "url": "https://omabrowser.org/oma/group/A1L0T0/", "id": "A1L0T0", "database": "OMA" } ], "common_name": "Rat", "organism": "Rattus norvegicus", "tax_id": 10116 }, { "uniprot_canonical_ac": "Q8BU33-1", "protein_name": "Acetolactate synthase-like protein", "sequence": { "length": 632, "sequence": "METSAAAASAGGFFPSFLLLAFGTLVAAVLGVAHRLGLFYQLMHKVDKTSIRHGGESVAAVLRAHGVRFVFTLVGGHISPLLVACEKLGIRVVDTRHEVTAVFAADAVARLTGTVGVAAVTAGPGLTNTVTAVKNAQVAQSPVLLLGGAASTLLQKRGALQAIDQMSLFRPLCKFCASVRRVRDIVPTLRTAIAAAQSGTPGPVFVELPLDVLYPYFMVEKEMIPTKLPNSLMGRVVVWYLQNCLANLFVGAWEPRPEGPLPLDIPQASPQQVQRCVEILSRAKRPLLVLGSQALLPPTPANKLRAAVETLGVPCFLGGMSRGLLGRNHPLHIRQNRSAALKKADVVVLAGAVCDFRLSYGRVLNRKSSIIIVNRNRDDLLLNSDIFWKPQEAVQGDVGSFMIKLVEGLQGQMWSSDWAEELRKADQQKEQTYRDKALMPVLQHLNPVWVLQQVEETLPDNALLVVDGGDFVATAAYLVQPRGPLRWLDPGAFGTLGVGAGFALGAKLCQPEAEVWCLFGDGAFGYSLIEFDTFVRHKVPVIALVGNDAGWTQISREQVPRLGSDVACSLAYTDYHKAAMGLGAQGLILSRDNKDQVVKVLREGQQLCQDGHAVVVNILIGRTDFRDGSISV" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/68532", "id": "68532", "database": "MGI" } ], "common_name": "Mouse", "organism": "Mus musculus", "tax_id": 10090 } ], "interactions": [], "synthesized_glycans": [], "snv": [ { "sequence_org": "T", "start_pos": 121, "alt_nt": "A", "chr_id": "19", "ref_nt": "G", "chr_pos": "15234030", "disease": [ { "synonyms": [ { "id": "DOID:1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "tumor of the Brain", "description": "" } ], "recommended_name": { "id": "DOID:1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A1L0T0", "id": "A1L0T0", "database": "BioMuta" }, { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1490637490", "id": "rs1490637490", "database": "dbSNP" }, { "url": "https://www.ncbi.nlm.nih.gov/snp/rs1490637490#frequency_tab", "id": "rs1490637490", "database": "TOPMed" } ], "frequency": "0.1", "sequence_mut": "I", "subjects_tested": "1042", "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ], "annotation": "Somatic mutation passed 1 out of 6 filters: o-glyco-sequon-loss (T->I).", "end_pos": 121, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "P", "alt_nt": "A", "chr_id": "19", "ref_nt": "G", "chr_pos": "15119229", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1317879201", "id": "rs1317879201", "database": "dbSNP" }, { "url": "http://gnomad.broadinstitute.org/awesome?query=rs1317879201", "id": "rs1317879201", "database": "gnomAD" } ], "sequence_mut": "S", "start_pos": 330, "keywords": [ "ebi", "germline" ], "end_pos": 330, "minor_allelic_frequency": "", "annotation": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NHP->NHS)." }, { "sequence_org": "K", "start_pos": 48, "alt_nt": "G", "chr_id": "19", "ref_nt": "C", "chr_pos": "15234379", "disease": [ { "synonyms": [], "recommended_name": { "id": "DOID: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/A1L0T0", "id": "A1L0T0", "database": "BioMuta" } ], "frequency": "0.6", "sequence_mut": "N", "subjects_tested": "162", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (KAS->NAS).", "end_pos": 48, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "E", "start_pos": 530, "alt_nt": "T", "chr_id": "19", "ref_nt": "C", "chr_pos": "15226687", "disease": [ { "synonyms": [ { "id": "DOID:363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "uterus neoplasm", "description": "" } ], "recommended_name": { "id": "DOID: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": "DOID:10534", "url": "http://disease-ontology.org/term/DOID:10534", "resource": "Disease Ontology", "name": "Ca body - stomach", "description": "" }, { "id": "DOID:10534", "url": "http://disease-ontology.org/term/DOID:10534", "resource": "Disease Ontology", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "DOID:10534", "url": "http://disease-ontology.org/term/DOID:10534", "resource": "Disease Ontology", "name": "ca greater curvature of stomach", "description": "" }, { "id": "DOID:10534", "url": "http://disease-ontology.org/term/DOID:10534", "resource": "Disease Ontology", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "url": "http://disease-ontology.org/term/DOID:10534", "resource": "Disease Ontology", "name": "gastric neoplasm", "description": "" }, { "id": "DOID:10534", "url": "http://disease-ontology.org/term/DOID:10534", "resource": "Disease Ontology", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "DOID:10534", "url": "http://disease-ontology.org/term/DOID:10534", "resource": "Disease Ontology", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "DOID:10534", "url": "http://disease-ontology.org/term/DOID:10534", "resource": "Disease Ontology", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "DOID:10534", "url": "http://disease-ontology.org/term/DOID:10534", "resource": "Disease Ontology", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "DOID:10534", "url": "http://disease-ontology.org/term/DOID:10534", "resource": "Disease Ontology", "name": "malignant tumor of lesser curve of stomach", "description": "" } ], "recommended_name": { "id": "DOID:10534", "url": "http://disease-ontology.org/term/DOID:10534", "resource": "Disease Ontology", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." } }, { "synonyms": [ { "id": "DOID:4159", "url": "http://disease-ontology.org/term/DOID:4159", "resource": "Disease Ontology", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "url": "http://disease-ontology.org/term/DOID:4159", "resource": "Disease Ontology", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "url": "http://disease-ontology.org/term/DOID:4159", "resource": "Disease Ontology", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "recommended_name": { "id": "DOID:4159", "url": "http://disease-ontology.org/term/DOID:4159", "resource": "Disease Ontology", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." } }, { "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/A1L0T0", "id": "A1L0T0", "database": "BioMuta" } ], "frequency": "0.5", "sequence_mut": "K", "subjects_tested": "558", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: num. of cancers (4). In dbSNP: rs1289847615.", "end_pos": 530, "minor_allelic_frequency": "", "subjects_positive": "3" }, { "sequence_org": "A", "alt_nt": "A", "chr_id": "19", "ref_nt": "C", "chr_pos": "15115641", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778308860", "id": "rs778308860", "database": "dbSNP" }, { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778308860", "id": "rs778308860", "database": "ExAC" }, { "url": "http://gnomad.broadinstitute.org/awesome?query=rs778308860", "id": "rs778308860", "database": "gnomAD" } ], "sequence_mut": "S", "start_pos": 549, "keywords": [ "ebi", "germline" ], "end_pos": 549, "minor_allelic_frequency": "", "annotation": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NDA->NDS)." }, { "sequence_org": "I", "start_pos": 620, "alt_nt": "C", "chr_id": "19", "ref_nt": "A", "chr_pos": "15226103", "disease": [ { "synonyms": [], "recommended_name": { "id": "DOID: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/A1L0T0", "id": "A1L0T0", "database": "BioMuta" } ], "frequency": "1.1", "sequence_mut": "S", "subjects_tested": "94", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (1.1%).", "end_pos": 620, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "D", "alt_nt": "T", "chr_id": "19", "ref_nt": "C", "chr_pos": "15115272", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775734367", "id": "rs775734367", "database": "dbSNP" }, { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775734367", "id": "rs775734367", "database": "ExAC" }, { "url": "https://www.ncbi.nlm.nih.gov/snp/rs775734367#frequency_tab", "id": "rs775734367", "database": "TOPMed" }, { "url": "http://gnomad.broadinstitute.org/awesome?query=rs775734367", "id": "rs775734367", "database": "gnomAD" } ], "sequence_mut": "N", "start_pos": 627, "keywords": [ "ebi", "germline" ], "end_pos": 627, "minor_allelic_frequency": "", "annotation": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DGS->NGS)." } ], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "refseq": { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006835.2", "ac": "NP_006835.2", "name": "acetolactate synthase-like protein", "summary": "The protein encoded by this gene shares similarity with several thiamine pyrophosphate-binding proteins identified in bacteria, yeast, and plants. The highest degree of similarity is found with bacterial acetolactate synthases (AHAS), which are enzymes that catalyze the first step in branched-chain amino acid biosynthesis. [provided by RefSeq, Jul 2008]." }, "go_annotation": { "categories": [ { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000287", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1L0T0", "id": "A1L0T0", "database": "UniProtKB" } ], "name": "magnesium ion binding", "id": "GO:0000287" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016740", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1L0T0", "id": "A1L0T0", "database": "UniProtKB" } ], "name": "transferase activity", "id": "GO:0016740" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030976", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1L0T0", "id": "A1L0T0", "database": "UniProtKB" } ], "name": "thiamine pyrophosphate binding", "id": "GO:0030976" } ], "total": 3, "name": "Molecular Function" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "pmid": "19946888", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1L0T0", "id": "A1L0T0", "database": "UniProtKB" } ], "name": "membrane", "id": "GO:0016020" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016021", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1L0T0", "id": "A1L0T0", "database": "UniProtKB" } ], "name": "integral component of membrane", "id": "GO:0016021" } ], "total": 2, "name": "Cellular Component" } ] }, "gene_names": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/A1L0T0", "type": "synonym", "resource": "RefSeq", "name": "209L8; AHAS; HACL1L; ILV2H" }, { "url": "https://www.uniprot.org/uniprot/A1L0T0", "type": "synonym", "resource": "UniProtKB", "name": "AHAS" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A1L0T0", "type": "synonym", "resource": "RefSeq", "name": "ILVBL" }, { "url": "https://www.uniprot.org/uniprot/A1L0T0", "type": "recommended", "resource": "UniProtKB", "name": "ILVBL" } ], "crossref": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105135", "id": "ENSG00000105135", "database": "Bgee" }, { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A1L0T0", "id": "A1L0T0", "database": "BioMuta" }, { "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=ILVBL", "id": "ILVBL", "database": "GeneCards" }, { "url": "https://www.ncbi.nlm.nih.gov/gene/10994", "id": "10994", "database": "GeneID" }, { "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=6041", "id": "6041", "database": "HGNC" }, { "url": "https://www.ebi.ac.uk/intact/interactors/id:A1L0T0*", "id": "A1L0T0", "database": "IntAct" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR000399", "id": "IPR000399", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR011766", "id": "IPR011766", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR012000", "id": "IPR012000", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR012001", "id": "IPR012001", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR029035", "id": "IPR029035", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR029061", "id": "IPR029061", "database": "InterPro" }, { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:10994", "id": "hsa:10994", "database": "KEGG Pathway" }, { "url": "http://www.omim.org/entry/605770", "id": "605770", "database": "MIM" }, { "url": "https://www.nextprot.org/entry/NX_A1L0T0", "id": "NX_A1L0T0", "database": "neXtProt" }, { "url": "https://omabrowser.org/oma/group/LAFTDYH/", "id": "LAFTDYH", "database": "OMA" }, { "url": "http://www.orthodb.org/?query=1132247at2759", "id": "1132247at2759", "database": "OrthoDB" }, { "url": "http://pfam.xfam.org/family/PF00205", "id": "PF00205", "database": "Pfam" }, { "url": "http://pfam.xfam.org/family/PF02775", "id": "PF02775", "database": "Pfam" }, { "url": "http://pfam.xfam.org/family/PF02776", "id": "PF02776", "database": "Pfam" }, { "url": "https://pharos.nih.gov/targets/A1L0T0", "id": "A1L0T0", "database": "PHAROS" }, { "url": "http://research.bioinformatics.udel.edu/pro/entry/PR_A1L0T0", "id": "PR_A1L0T0", "database": "PRO" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006835.2", "id": "NP_006835.2", "database": "RefSeq" } ], "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/A1L0T0", "id": "A1L0T0", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:10283", "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": [ { 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