{ "uniprot_canonical_ac": "A2A2Z9-1", "ptm_annotation": [], "sequence": { "header": "sp|A2A2Z9-1|AN18B_HUMAN Isoform 1 of Ankyrin repeat domain-containing protein 18B OS=Homo sapiens OX=9606 GN=ANKRD18B PE=1 SV=1 CANONICAL=A2A2Z9-1", "length": 1011, "sequence": "MRKLLSFGRRLGQALLSSMDQEYAGRGYHIRDWELRKIHRAAIKGDAAEVEHCLTRRFRDLDVRDRKDRTVLHLACAHGRVQVVTLLLDRKCQINICDRLNRTPLMKAVHCQEEACAIILLKRGANPNIKDIYGNTALHYAVYNEGTSLAERLLSHHANIEALNKEGNTPLLFAINSRRQHMVEFLLKNQANIHAVDNFKRTALILAVQHNLSSIVTLLLQQNIHISSQDMFGQTAEDYAFCCDLRSIQQQILEHKNKMLKNHLRNDNQETAAMKPENLKKRKKRKKLKKRKEGAKAEHNLKVASEEKQERLERSENKQPQDSQSYGKKKDEMFGNFMLKRDIAMLKEELYAIKNDSLRKEKKYIQEIKSITEINANFEKSVRLNEEMITKKVAQYSQQLNDLKAENARLNSKLEKEKHNKERLEAEVESLHSNLATAINEYNEILERKDLELVLWRADDVSRHETMGSNISQLTDKNELLTEQVHKARVKFNTLKGKLRETRDALREKTLALESVQLDLKQAQHRIKEMKQMHPNGEAKESQSIGKQNSSEERIRQRELENLLLERQLEDARKEGDNKEIVINIHRDCLENGKEDLLEERNKELMNEYNYLKEKLLQYEKEKAEREVIVREFQEELVDHLKKFSMSESPLEGTSHCHINLDETWTSKKKLFQVEIQPEEKHEEFRKVFELISLLNYTADQIRKKNRELEEEATGYKKCLEMTINMLNAFANEDFSCHGDLNTDQLKMDILFKKLKQKFDDLMAEKEAVSSKCVNLAKDNEVLHQELLSMGKVQEKCEKLEKDKKMLEEKVLNLKTHMEKDMVELGKVQEYKSELDERAMQAIEKLEEIHLQKQAEYEKQLEQLNKDNTASLKKKELTLKDVECKFSKMKTAYEDVTTELEEYKEAFAVALKANSSMSEKITKSDKKIAVISTKLFMEKERMEYFLSTLPMRPDPELPCVENLNSIELNRKYIPKMAIRIPTSNPQTSNNCKNSLTELLLRWALAPIYFLL" }, "uniprot_id": "AN18B_HUMAN", "enzyme_annotation": [], "glycation": [], "keywords": [], "species": [ { "common_name": "Human", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A2Z9", "id": "A2A2Z9", "database": "UniProtKB" } ], "name": "Homo sapiens", "taxid": 9606 } ], "publication": [], "uniprot_ac": "A2A2Z9", "site_annotation": [ { "end_pos": 213, "annotation": "n_glycosylation_sequon", "start_pos": 211 }, { "end_pos": 357, "annotation": "n_glycosylation_sequon", "start_pos": 355 }, { "end_pos": 698, "annotation": "n_glycosylation_sequon", "start_pos": 696 }, { "end_pos": 103, "annotation": "n_glycosylation_sequon", "start_pos": 101 }, { "end_pos": 551, "annotation": "n_glycosylation_sequon", "start_pos": 549 }, { "end_pos": 472, "annotation": "n_glycosylation_sequon", "start_pos": 470 }, { "end_pos": 916, "annotation": "n_glycosylation_sequon", "start_pos": 914 } ], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A2A2Z9#S4R3H1-1", "isoform_ac": "S4R3H1-1", "locus": { "end_pos": 33536887, "strand": "-", "start_pos": 33547949, "chromosome": "9", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000605687", "id": "ENST00000605687", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000474332", "id": "ENSP00000474332", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|S4R3H1-1|AN18B_HUMAN Computationally mapped isoform of Ankyrin repeat domain-containing protein 18B OS=Homo sapiens OX=9606 GN=ANKRD18B PE=1 SV=1 CANONICAL=A2A2Z9-1", "length": 75, "sequence": "XQILEHKNKMLKNHLRNDNQETAAMKPENLKKRKKRKKLKKRKEGAKEHNLKVASEEKQERLERSENKQPQDSQS" } }, { "url": "https://www.uniprot.org/uniprot/A2A2Z9#A2A2Z9-1", "isoform_ac": "A2A2Z9-1", "locus": { "end_pos": 33524490, "strand": "-", "start_pos": 33572357, "chromosome": "9", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000290943", "id": "ENST00000290943", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000290943", "id": "ENSP00000290943", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A2A2Z9-1|AN18B_HUMAN Isoform 1 of Ankyrin repeat domain-containing protein 18B OS=Homo sapiens OX=9606 GN=ANKRD18B PE=1 SV=1 CANONICAL=A2A2Z9-1", "length": 1011, "sequence": "MRKLLSFGRRLGQALLSSMDQEYAGRGYHIRDWELRKIHRAAIKGDAAEVEHCLTRRFRDLDVRDRKDRTVLHLACAHGRVQVVTLLLDRKCQINICDRLNRTPLMKAVHCQEEACAIILLKRGANPNIKDIYGNTALHYAVYNEGTSLAERLLSHHANIEALNKEGNTPLLFAINSRRQHMVEFLLKNQANIHAVDNFKRTALILAVQHNLSSIVTLLLQQNIHISSQDMFGQTAEDYAFCCDLRSIQQQILEHKNKMLKNHLRNDNQETAAMKPENLKKRKKRKKLKKRKEGAKAEHNLKVASEEKQERLERSENKQPQDSQSYGKKKDEMFGNFMLKRDIAMLKEELYAIKNDSLRKEKKYIQEIKSITEINANFEKSVRLNEEMITKKVAQYSQQLNDLKAENARLNSKLEKEKHNKERLEAEVESLHSNLATAINEYNEILERKDLELVLWRADDVSRHETMGSNISQLTDKNELLTEQVHKARVKFNTLKGKLRETRDALREKTLALESVQLDLKQAQHRIKEMKQMHPNGEAKESQSIGKQNSSEERIRQRELENLLLERQLEDARKEGDNKEIVINIHRDCLENGKEDLLEERNKELMNEYNYLKEKLLQYEKEKAEREVIVREFQEELVDHLKKFSMSESPLEGTSHCHINLDETWTSKKKLFQVEIQPEEKHEEFRKVFELISLLNYTADQIRKKNRELEEEATGYKKCLEMTINMLNAFANEDFSCHGDLNTDQLKMDILFKKLKQKFDDLMAEKEAVSSKCVNLAKDNEVLHQELLSMGKVQEKCEKLEKDKKMLEEKVLNLKTHMEKDMVELGKVQEYKSELDERAMQAIEKLEEIHLQKQAEYEKQLEQLNKDNTASLKKKELTLKDVECKFSKMKTAYEDVTTELEEYKEAFAVALKANSSMSEKITKSDKKIAVISTKLFMEKERMEYFLSTLPMRPDPELPCVENLNSIELNRKYIPKMAIRIPTSNPQTSNNCKNSLTELLLRWALAPIYFLL" } }, { "url": "https://www.uniprot.org/uniprot/A2A2Z9#A2A300-1", "isoform_ac": "A2A300-1", "locus": { "end_pos": 33548832, "strand": "-", "start_pos": 33571314, "chromosome": "9", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000357927", "id": "ENST00000357927", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000350607", "id": "ENSP00000350607", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|A2A300-1|AN18B_HUMAN Computationally mapped isoform of Ankyrin repeat domain-containing protein 18B OS=Homo sapiens OX=9606 GN=ANKRD18B PE=1 SV=1 CANONICAL=A2A2Z9-1", "length": 401, "sequence": "EKEKAEREVIVREFQEELVDHLKKFSMSESPLEGTSHCHINLDETWTSKKKLFQVEIQPEEKHEEFRKVFELISLLNYTADQIRKKNRELEEEATGYKKCLEMTINMLNAFANEDFSCHGDLNTDQLKMDILFKKLKQKFDDLMAEKEAVSSKCVNLAKDNEVLHQELLSMGKVQEKCEKLEKDKKMLEEKVLNLKTHMEKDMVELGKVQEYKSELDERAMQAIEKLEEIHLQKQAEYEKQLEQLNKDNTASLKKKELTLKDVECKFSKMKTAYEDVTTELEEYKEAFAVALKANSSMSEKITKSDKKIAVISTKLFMEKERMEYFLSTLPMRPDPELPCVENLNSIELNRKYIPKMAIRIPTSNPQTSNNCKNSLTEMELDCAEQIITETKKSMLPKCIN" } }, { "url": "https://www.uniprot.org/uniprot/A2A2Z9#R4GNB3-1", "isoform_ac": "R4GNB3-1", "locus": { "end_pos": 33567103, "strand": "-", "start_pos": 33568938, "chromosome": "9", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000465094", "id": "ENST00000465094", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000473566", "id": "ENSP00000473566", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|R4GNB3-1|AN18B_HUMAN Computationally mapped isoform of Ankyrin repeat domain-containing protein 18B OS=Homo sapiens OX=9606 GN=ANKRD18B PE=1 SV=1 CANONICAL=A2A2Z9-1", "length": 160, "sequence": "KQAEYEKQLEQLNKDNTASLKKKELTLKDVECKFSKMKTAYEDVTTELEEYKEAFAVALKANSSMSEKITKSDKKIAVISTKLFMEKERMEYFLSTLPMRPDPELPCVENLNSIELNRKYIPKMAIRIPTSNPQTSNNCKNSLTEVSYMTISLLGFISLI" } } ], "pathway": [], "function": [], "orthologs": [], "interactions": [], "synthesized_glycans": [], "snv": [ { "sequence_org": "E", "start_pos": 145, "alt_nt": "A", "chr_id": "9", "ref_nt": "G", "chr_pos": "33529109", "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/A2A2Z9", "id": "A2A2Z9", "database": "BioMuta" } ], "frequency": "2.0", "sequence_mut": "K", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%).", "end_pos": 145, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "F", "start_pos": 1009, "alt_nt": "C", "chr_id": "9", "ref_nt": "T", "chr_pos": "33572347", "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." } }, { "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." } }, { "synonyms": [ { "id": "DOID:2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "Hematologic 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"id": "DOID:2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "malignant hematopoietic neoplasm", "description": "" } ], "recommended_name": { "id": "DOID:2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2A2Z9", "id": "A2A2Z9", "database": "BioMuta" } ], "frequency": "0.1", "sequence_mut": "L", "subjects_tested": "955", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "end_pos": 1009, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "K", "start_pos": 130, "alt_nt": "G", "chr_id": "9", 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"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/A2A2Z9", "id": "A2A2Z9", "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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