{ "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", "glycation": [], "keywords": [], "species": [ { "common_name": "Human", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A2Z9", "id": "A2A2Z9", "database": "UniProtKB" } ], "name": "Homo sapiens", "taxid": 9606 } ], "reaction_enzymes": [], "publication": [], "uniprot_ac": "A2A2Z9", "gene_names": [ { "url": "https://www.uniprot.org/uniprot/A2A2Z9", "type": "recommended", "resource": "UniProtKB", "name": "ANKRD18B" } ], "reactions": [], "isoforms": [ { "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|R4GNB3_HUMAN Computationally mapped isoform of Ankyrin repeat domain-containing protein 18B OS=Homo sapiens OX=9606 GN=ANKRD18B PE=4 SV=1 CANONICAL=A2A2Z9-1", "length": 160, "sequence": "KQAEYEKQLEQLNKDNTASLKKKELTLKDVECKFSKMKTAYEDVTTELEEYKEAFAVALKANSSMSEKITKSDKKIAVISTKLFMEKERMEYFLSTLPMRPDPELPCVENLNSIELNRKYIPKMAIRIPTSNPQTSNNCKNSLTEVSYMTISLLGFISLI" } }, { "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|S4R3H1_HUMAN Computationally mapped isoform of Ankyrin repeat domain-containing protein 18B OS=Homo sapiens OX=9606 GN=ANKRD18B PE=4 SV=1 CANONICAL=A2A2Z9-1", "length": 75, "sequence": "XQILEHKNKMLKNHLRNDNQETAAMKPENLKKRKKRKKLKKRKEGAKEHNLKVASEEKQERLERSENKQPQDSQS" } } ], "pathway": [], "reaction_participants": [], "function": [], "orthologs": [], "interactions": [], "synthesized_glycans": [], "snv": [ { "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "sequence_org": "F", "start_pos": 1009, "alt_nt": "C", "chr_id": "9", "subjects_positive": "1", "chr_pos": "33572347", "disease": [ { "disease_id": "DOID:1612", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "description": "", "name": "malignant tumor of the breast", "id": "DOID:1612" }, { "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "description": "", "name": "primary breast cancer", "id": "DOID:1612" }, { "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "description": "", "name": "breast tumor", "id": "DOID:1612" }, { "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "description": "", "name": "mammary tumor", "id": "DOID:1612" }, { "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "description": "", "name": "mammary cancer", "id": "DOID:1612" }, { "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of breast", "id": "DOID:1612" }, { "url": "https://monarchinitiative.org/disease/MONDO:0016419", "resource": "MONDO", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma.", "name": "hereditary breast carcinoma", "id": "MONDO:0016419" }, { "url": "https://monarchinitiative.org/disease/MONDO:0016419", "resource": "MONDO", "description": "", "name": "familial cancer of the breast", "id": "MONDO:0016419" }, { "url": "https://monarchinitiative.org/disease/MONDO:0016419", "resource": "MONDO", "description": "", "name": "familial cancer of breast", "id": "MONDO:0016419" }, { "url": "https://monarchinitiative.org/disease/MONDO:0016419", "resource": "MONDO", "description": "", "name": "familial breast cancer", "id": "MONDO:0016419" }, { "url": "https://monarchinitiative.org/disease/MONDO:0016419", "resource": "MONDO", "description": "", "name": "breast cancer, familial Male", "id": "MONDO:0016419" }, { "url": "https://monarchinitiative.org/disease/MONDO:0016419", "resource": "MONDO", "description": "", "name": "breast cancer, familial", "id": "MONDO:0016419" }, { "url": "https://monarchinitiative.org/disease/MONDO:0016419", "resource": "MONDO", "description": "", "name": "familial breast carcinoma", "id": "MONDO:0016419" }, { "url": "https://monarchinitiative.org/disease/MONDO:0016419", "resource": "MONDO", "description": "", "name": "hereditary breast cancer", "id": "MONDO:0016419" }, { "url": "https://monarchinitiative.org/disease/MONDO:0016419", "resource": "MONDO", "description": "", "name": "hereditary breast carcinoma", "id": "MONDO:0016419" }, { "url": "https://www.omim.org/entry/114480", "resource": "MIM", "description": "Breast cancer", "name": "Breast cancer", "id": "MIM:114480" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "description": "A thoracic cancer that originates in the mammary gland.", "name": "breast cancer", "id": "DOID:1612" } }, { "disease_id": "DOID:9256", "synonyms": [ { "url": "https://monarchinitiative.org/disease/MONDO:0023113", "resource": "MONDO", "description": "Familial colon cancer is a cluster of colon cancer within a family. 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High-risk cancer screening and other preventative measures such as prophylactic surgeries are typically recommended in people who have an increased risk for colon cancer based on their personal and/or family histories.", "name": "familial colorectal cancer", "id": "MONDO:0023113" }, { "url": "https://monarchinitiative.org/disease/MONDO:0023113", "resource": "MONDO", "description": "", "name": "hereditary colorectal cancer", "id": "MONDO:0023113" }, { "url": "https://monarchinitiative.org/disease/MONDO:0023113", "resource": "MONDO", "description": "", "name": "colorectal cancer, familial", "id": "MONDO:0023113" }, { "url": "https://www.omim.org/entry/114500", "resource": "MIM", "description": "Colorectal cancer", "name": "Colorectal cancer", "id": "MIM:114500" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:9256", "resource": "Disease Ontology", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum.", "name": "colorectal cancer", "id": "DOID:9256" } }, { "disease_id": "DOID:2531", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "description": "", "name": "hematopoietic tumors", "id": "DOID:2531" }, { "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "description": "", "name": "hematopoietic cancer", "id": "DOID:2531" }, { "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "description": "", "name": "malignant hematopoietic neoplasm", "id": "DOID:2531" }, { "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "description": "", "name": "hematopoietic neoplasm", "id": "DOID:2531" }, { "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "description": "", "name": "Hematological tumors", "id": "DOID:2531" }, { "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "description": "", "name": "Hematologic malignancy", "id": "DOID:2531" }, { "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "description": "", "name": "hematopoietic and lymphoid system tumor", "id": "DOID:2531" }, { "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "description": "", "name": "blood cancer", "id": "DOID:2531" }, { "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "description": "", "name": "Hematologic neoplasm", "id": "DOID:2531" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes.", "name": "hematologic cancer", "id": "DOID:2531" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2A2Z9", "id": "A2A2Z9", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "0.1", "sequence_mut": "L", "subjects_tested": "955", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 1009, "minor_allelic_frequency": "", "ref_nt": "T" }, { "comment": "Somatic mutation passed 1 out of 6 filters: patient freq. 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In some of these families, the underlying genetic cause is not known; however, many of these cases are caused by changes ( mutations ) in the APC , MYH , MLH1 , MSH2 , MSH6 , PMS2 , EPCAM , PTEN , STK11 , SMAD4 , BMPR1A , NTHL1 , POLE , and POLD1 genes (which are associated with hereditary cancer syndromes). An additional 10-30% of people diagnosed with colon cancer have a significant family history of the condition but have no identifiable mutation in a gene known to cause a hereditary predisposition to colon cancer. These clusters of colon cancer are likely due to a combination of gene(s) and other shared factors such as environment and lifestyle. 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"MONDO:0002974" }, { "url": "https://monarchinitiative.org/disease/MONDO:0002974", "resource": "MONDO", "description": "", "name": "malignant cervical tumor", "id": "MONDO:0002974" }, { "url": "https://monarchinitiative.org/disease/MONDO:0002974", "resource": "MONDO", "description": "", "name": "uterine cervical neoplasm", "id": "MONDO:0002974" }, { "url": "https://monarchinitiative.org/disease/MONDO:0002974", "resource": "MONDO", "description": "", "name": "malignant uterine cervix neoplasm", "id": "MONDO:0002974" }, { "url": "https://monarchinitiative.org/disease/MONDO:0002974", "resource": "MONDO", "description": "", "name": "uterine cervix cancer", "id": "MONDO:0002974" }, { "url": "https://monarchinitiative.org/disease/MONDO:0002974", "resource": "MONDO", "description": "", "name": "malignant cervix tumor", "id": "MONDO:0002974" }, { "url": "https://monarchinitiative.org/disease/MONDO:0002974", "resource": "MONDO", "description": "", "name": "cervical neoplasm", "id": 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