{ "uniprot_canonical_ac": "A5D8W1-1", "sequence": { "header": "sp|A5D8W1-1|CFA69_HUMAN Isoform 1 of Cilia- and flagella-associated protein 69 OS=Homo sapiens OX=9606 GN=CFAP69 PE=1 SV=3 CANONICAL=A5D8W1-1", "length": 941, "sequence": "MWTEEAGATAEAQESGIRNKSSSSSQIPVVGVVTEDDEAQDVFKPMDLNRVIKLLEETDKDGLEEKQLKFVKKLVQCYQNGLPLRDLAQIFKILNLCSGKIKNQPRFIESAYDIIKLCGLPFLKKKVSDEITYAEDTANSIALLGDLMKIPSSELRIQICKCIVDFYHAEPPKKHIPGYQQASSSYKIQMAEVGGLAKTMVQSMTLLENQLVEKLWVLKVLQHLSTSEVNCTIMMKAQAASGICTHLNDPDPSGQLLFRSSEILWNLLEKSSKEEVIQQLSNLECLLALKEVFKNLFMRGFSHYDRQLRNDILVITTIIAQNPEAPMIECGFTKDLILFATFNEVKSQNLLVKGLKLSNSYEDFELKKLLFNVIVILCKDLPTVQLLIDGKVILALFTYVKKPEKQKIIDWSAAQHEELQLHAIATLSSVAPLLIEEYMSCQGNARVLAFLEWCESEDPFFSHGNSFHGTGGRGNKFAQMRYSLRLLRAVVYLEDETVNKDLCEKGTIQQMIGIFKNIISKPNEKEEAIVLEIQSDILLILSGLCENHIQRKEIFGTEGVDIVLHVMKTDPRKLQSGLGYNVLLFSTLDSIWCCILGCYPSEDYFLEKEGIFLLLDLLALNQKKFCNLILGIMVEFCDNPKTAAHVNAWQGKKDQTAASLLIKLWRKEEKELGVKRDKNGKIIDTKKPLFTSFQEEQKIIPLPANCPSIAVMDVSENIRAKIYAILGKLDFENLPGLSAEDFVTLCIIHRYLDFKIGEIWNEIYEEIKLEKLRPVTTDKKALEAITTASENIGKMVASLQSDIIESQACQDMQNEQKVYAKIQATHKQRELANKSWEDFLARTSNAKTLKKAKSLQEKAIEASRYHKRPQNAIFHQTHIKGLNTTVPSGGVVTVESTPARLVGGPLVDTDIALKKLPIRGGALQRVKAVKIVDAPKKSIPT" }, "uniprot_id": "CFA69_HUMAN", "enzyme_annotation": [], "synonyms": { "protein": { "refseq": [ "cilia- and flagella-associated protein 69 isoform 1" ], "uniprotkb": [ "Cilia- and flagella-associated protein 69" ] }, "gene": { "refseq": [ "CFAP69", "C7orf63", "FAP69", "SPGF24" ], "uniprotkb": [ "CFAP69", "C7orf63", "FAP69", "SPGF24" ] } }, "keywords": [], "species": [ { "evidence": [ { "url": "https://www.uniprot.org/uniprot/A5D8W1", "id": "A5D8W1", "database": "UniProtKB" } ], "name": "Homo sapiens", "taxid": 9606 } ], "recommendedname": { "full": "Cilia- and flagella-associated protein 69." }, "publication": [ { "title": "Absence of CFAP69 Causes Male Infertility due to Multiple Morphological Abnormalities of the Flagella in Human and Mouse.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/29606301", "journal": "American journal of human genetics", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034795.2", "id": "NP_001034795.2", "database": "RefSeq" }, { "url": "https://www.uniprot.org/uniprot/A5D8W1/publications", "id": "A5D8W1", "database": "UniProtKB" } ], "authors": "Dong FN, Amiri-Yekta A, Martinez G, Saut A, Tek J, Stouvenel L, Lores P, Karaouzene T, Thierry-Mieg N, Satre V, Brouillet S, Daneshipour A, Hosseini SH, Bonhivers M, Gourabi H, Dulioust E, Arnoult C, Toure A, Ray PF, Zhao H, Coutton C", "date": "2018", "pmid": "29606301" }, { "title": "DNA methylation profiles in diffuse large B-cell lymphoma and their relationship to gene expression status.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/18288132", "journal": "Leukemia", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034795.2", "id": "NP_001034795.2", "database": "RefSeq" } ], "authors": "Pike BL, Greiner TC, Wang X, Weisenburger DD, Hsu YH, Renaud G, Wolfsberg TG, Kim M, Weisenberger DJ, Siegmund KD, Ye W, Groshen S, Mehrian-Shai R, Delabie J, Chan WC, Laird PW, Hacia JG", "date": "2008", "pmid": "18288132" } ], "glycosylation": [], "mutation": [ { "start_pos": 716, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A5D8W1", "id": "A5D8W1", "database": "BioMuta" } ], "frequency": "2.0", "annotation": "Filters passed (1/5): patient freq. (2.0%).", "sequence_org": "E", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "V", "subjects_tested": "50", "end_pos": 716, "type": "Point mutation" }, { "start_pos": 121, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A5D8W1", "id": "A5D8W1", "database": "BioMuta" } ], "frequency": "2.0", "annotation": "Filters passed (1/5): patient freq. (2.0%).", "sequence_org": "P", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "T", "subjects_tested": "50", "end_pos": 121, "type": "Point mutation" }, { "start_pos": 840, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A5D8W1", "id": "A5D8W1", "database": "BioMuta" } ], "frequency": "2.0", "annotation": "Filters passed (1/5): patient freq. (2.0%).", "sequence_org": "L", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "F", "subjects_tested": "50", "end_pos": 840, "type": "Point mutation" }, { "start_pos": 693, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A5D8W1", "id": "A5D8W1", "database": "BioMuta" } ], "frequency": "2.0", "annotation": "Filters passed (1/5): patient freq. (2.0%).", "sequence_org": "F", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "Y", "subjects_tested": "50", "end_pos": 693, "type": "Point mutation" }, { "start_pos": 631, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A5D8W1", "id": "A5D8W1", "database": "BioMuta" } ], "frequency": "1.1", "annotation": "Filters passed (1/5): patient freq. (1.1%).", "sequence_org": "G", "disease": { "doid": "2394", "url": "http://disease-ontology.org/term/DOID:2394", "icd10": "", "name": "Ovarian cancer" }, "sequence_mut": "E", "subjects_tested": "93", "end_pos": 631, "type": "Point mutation" }, { "start_pos": 203, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A5D8W1", "id": "A5D8W1", "database": "BioMuta" } ], "frequency": "2.0", "annotation": "Filters passed (1/5): patient freq. (2.0%).", "sequence_org": "S", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "P", "subjects_tested": "50", "end_pos": 203, "type": "Point mutation" }, { "start_pos": 119, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A5D8W1", "id": "A5D8W1", "database": "BioMuta" } ], "frequency": "1.5", "annotation": "Filters passed (1/5): patient freq. (1.5%).", "sequence_org": "G", "disease": { "doid": "1324", "url": "http://disease-ontology.org/term/DOID:1324", "icd10": "", "name": "Lung cancer" }, "sequence_mut": "C", "subjects_tested": "66", "end_pos": 119, "type": "Point mutation" }, { "start_pos": 629, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A5D8W1", "id": "A5D8W1", "database": "BioMuta" } ], "frequency": "1.5", "annotation": "Filters passed (1/5): patient freq. (1.5%).", "sequence_org": "I", "disease": { "doid": "1324", "url": "http://disease-ontology.org/term/DOID:1324", "icd10": "", "name": "Lung cancer" }, "sequence_mut": "L", "subjects_tested": "66", "end_pos": 629, "type": "Point mutation" }, { "start_pos": 241, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A5D8W1", "id": "A5D8W1", "database": "BioMuta" } ], "frequency": "2.0", "annotation": "Filters passed (1/5): patient freq. (2.0%).", "sequence_org": "S", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "C", "subjects_tested": "50", "end_pos": 241, "type": "Point mutation" }, { "start_pos": 325, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A5D8W1", "id": "A5D8W1", "database": "BioMuta" } ], "frequency": "2.0", "annotation": "Filters passed (1/5): patient freq. (2.0%).", "sequence_org": "A", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "T", "subjects_tested": "50", "end_pos": 325, "type": "Point mutation" }, { "start_pos": 885, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A5D8W1", "id": "A5D8W1", "database": "BioMuta" } ], "frequency": "2.0", "annotation": "Filters passed (1/5): patient freq. (2.0%).", "sequence_org": "T", "disease": { "doid": "1612", "url": "http://disease-ontology.org/term/DOID:1612", "icd10": "", "name": "Breast cancer" }, "sequence_mut": "M", "subjects_tested": "50", "end_pos": 885, "type": "Point mutation" }, { "start_pos": 336, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A5D8W1", "id": "A5D8W1", "database": "BioMuta" } ], "frequency": "1.5", "annotation": "Filters passed (1/5): patient freq. (1.5%).", "sequence_org": "L", "disease": { "doid": "1324", "url": "http://disease-ontology.org/term/DOID:1324", "icd10": "", "name": "Lung cancer" }, "sequence_mut": "F", "subjects_tested": "66", "end_pos": 336, "type": "Point mutation" }, { "start_pos": 385, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A5D8W1", "id": "A5D8W1", "database": "BioMuta" } ], "frequency": "1.1", "annotation": "Filters passed (1/5): patient freq. (1.1%).", "sequence_org": "Q", "disease": { "doid": "2394", "url": "http://disease-ontology.org/term/DOID:2394", "icd10": "", "name": "Ovarian cancer" }, "sequence_mut": "E", "subjects_tested": "93", "end_pos": 385, "type": "Point mutation" }, { "start_pos": 800, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A5D8W1", "id": "A5D8W1", "database": "BioMuta" } ], "frequency": "2.0", "annotation": "Filters passed (1/5): patient freq. (2.0%).", "sequence_org": "Q", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "H", "subjects_tested": "50", "end_pos": 800, "type": "Point mutation" }, { "start_pos": 603, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A5D8W1", "id": "A5D8W1", "database": "BioMuta" } ], "frequency": "2.0", "annotation": "Filters passed (1/5): patient freq. (2.0%).", "sequence_org": "D", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "N", "subjects_tested": "50", "end_pos": 603, "type": "Point mutation" }, { "start_pos": 794, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A5D8W1", "id": "A5D8W1", "database": "BioMuta" } ], "frequency": "2.0", "annotation": "Filters passed (1/5): patient freq. (2.0%).", "sequence_org": "K", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "E", "subjects_tested": "50", "end_pos": 794, "type": "Point mutation" }, { "start_pos": 660, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A5D8W1", "id": "A5D8W1", "database": "BioMuta" } ], "frequency": "2.0", "annotation": "Filters passed (1/5): patient freq. (2.0%).", "sequence_org": "L", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "I", "subjects_tested": "50", "end_pos": 660, "type": "Point mutation" } ], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A5D8W1#A5D8W1-1", "isoform_ac": "A5D8W1-1", "locus": { "end_pos": 90245425, "start_pos": 90310235, "chromosome": "7", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000389297", "id": "ENST00000389297", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000373948", "id": "ENSP00000373948", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A5D8W1-1|CFA69_HUMAN Isoform 1 of Cilia- and flagella-associated protein 69 OS=Homo sapiens OX=9606 GN=CFAP69 PE=1 SV=3 CANONICAL=A5D8W1-1", "length": 941, "sequence": "MWTEEAGATAEAQESGIRNKSSSSSQIPVVGVVTEDDEAQDVFKPMDLNRVIKLLEETDKDGLEEKQLKFVKKLVQCYQNGLPLRDLAQIFKILNLCSGKIKNQPRFIESAYDIIKLCGLPFLKKKVSDEITYAEDTANSIALLGDLMKIPSSELRIQICKCIVDFYHAEPPKKHIPGYQQASSSYKIQMAEVGGLAKTMVQSMTLLENQLVEKLWVLKVLQHLSTSEVNCTIMMKAQAASGICTHLNDPDPSGQLLFRSSEILWNLLEKSSKEEVIQQLSNLECLLALKEVFKNLFMRGFSHYDRQLRNDILVITTIIAQNPEAPMIECGFTKDLILFATFNEVKSQNLLVKGLKLSNSYEDFELKKLLFNVIVILCKDLPTVQLLIDGKVILALFTYVKKPEKQKIIDWSAAQHEELQLHAIATLSSVAPLLIEEYMSCQGNARVLAFLEWCESEDPFFSHGNSFHGTGGRGNKFAQMRYSLRLLRAVVYLEDETVNKDLCEKGTIQQMIGIFKNIISKPNEKEEAIVLEIQSDILLILSGLCENHIQRKEIFGTEGVDIVLHVMKTDPRKLQSGLGYNVLLFSTLDSIWCCILGCYPSEDYFLEKEGIFLLLDLLALNQKKFCNLILGIMVEFCDNPKTAAHVNAWQGKKDQTAASLLIKLWRKEEKELGVKRDKNGKIIDTKKPLFTSFQEEQKIIPLPANCPSIAVMDVSENIRAKIYAILGKLDFENLPGLSAEDFVTLCIIHRYLDFKIGEIWNEIYEEIKLEKLRPVTTDKKALEAITTASENIGKMVASLQSDIIESQACQDMQNEQKVYAKIQATHKQRELANKSWEDFLARTSNAKTLKKAKSLQEKAIEASRYHKRPQNAIFHQTHIKGLNTTVPSGGVVTVESTPARLVGGPLVDTDIALKKLPIRGGALQRVKAVKIVDAPKKSIPT" } }, { "url": "https://www.uniprot.org/uniprot/A5D8W1#H7C076-1", "isoform_ac": "H7C076-1", "locus": { "end_pos": 90271589, "start_pos": 90271960, "chromosome": "7", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000418199", "id": "ENST00000418199", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000393339", "id": "ENSP00000393339", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|H7C076-1|CFA69_HUMAN Computationally mapped isoform of Cilia- and flagella-associated protein 69 OS=Homo sapiens OX=9606 GN=CFAP69 PE=1 SV=1 CANONICAL=A5D8W1-1", "length": 89, "sequence": "XMVQSMTLLENQLVEKLWVLKVLQHLSTSEVNCTIMMKAQAASGICTHLNDPDPSGQLLFRSSEILWNLLEKSSKEEVIQQLSNLECLL" } }, { "url": "https://www.uniprot.org/uniprot/A5D8W1#A5D8W1-2", "isoform_ac": "A5D8W1-2", "locus": { "end_pos": 0, "start_pos": 0, "chromosome": "", "evidence": [] }, "sequence": { "header": "sp|A5D8W1-2|CFA69_HUMAN Isoform 2 of Cilia- and flagella-associated protein 69 OS=Homo sapiens OX=9606 GN=CFAP69 PE=1 SV=3 CANONICAL=A5D8W1-1", "length": 895, "sequence": "MWTEEAGATAEAQESGIRNKSSSSSQIPVVGVVTEDDEAQDVFKPMDLNRVIKLLEETDKDGLEEKQLKFVKKLVQCYQNGLPLRDLAQIFKILNLCSGKIKNQPRFIESAYDIIKLCGLPFLKKKVSDEITYAEDTANSIALLGDLMKIPSSELRIQICKCIVDFYHAEPPKKHIPGYQQASSSYKIQMAEVGGLAKTMVQSMTLLENQLVEKLWVLKVLQHLSTSEVNCTIMMKAQAASGICTHLNDPDPSGQLLFRSSEILWNLLEKSSKEEVIQQLSNLECLLALKEVFKNLFMRGFSHYDRQLRNDILVITTIIAQNPEAPMIECGFTKDLILFATFNEVKSQNLLVKGLKLSNSYEDFELKKLLFNVIVILCKDLPTVQLLIDGKVILALFTYVKKPEKQKIIDWSAAQHEELQLHAIATLSSVAPLLIEEYMSCQGNARVLAFLEWCESEDPFFSHGNSFHGTGGRGNKFAQMRYSLRLLRAVVYLEDETVNKDLCEKGTIQQMIGIFKNIISKPNEKEEAIVLEIQSDILLILSGLCENHIQRKEIFGTEGVDIVLHVMKTDPRKLQSGLGYNVLLFSTLDSIWCCILGCYPSEDYFLEKEGIFLLLDLLALNQKKFCNLILGIMVEFCDNPKTAAHVNAWQGKKDQTAASLLIKLWRKEEKELGVKRDKNGKIIDFENLPGLSAEDFVTLCIIHRYLDFKIGEIWNEIYEEIKLEKLRPVTTDKKALEAITTASENIGKMVASLQSDIIESQACQDMQNEQKVYAKIQATHKQRELANKSWEDFLARTSNAKTLKKAKSLQEKAIEASRYHKRPQNAIFHQTHIKGLNTTVPSGGVVTVESTPARLVGGPLVDTDIALKKLPIRGGALQRVKAVKIVDAPKKSIPT" } }, { "url": "https://www.uniprot.org/uniprot/A5D8W1#H7C002-1", "isoform_ac": "H7C002-1", "locus": { "end_pos": 90258098, "start_pos": 90300004, "chromosome": "7", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000457170", "id": "ENST00000457170", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000392365", "id": "ENSP00000392365", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|H7C002-1|CFA69_HUMAN Computationally mapped isoform of Cilia- and flagella-associated protein 69 OS=Homo sapiens OX=9606 GN=CFAP69 PE=1 SV=1 CANONICAL=A5D8W1-1", "length": 515, "sequence": "DGLEEKQLKFVKKLVQCYQNGLPLRDLAQIFKILNLCSGKIKNQPRFIESAYDIIKLCGLPFLKKKVSDEITYAEDTANSIALLGDLMKIPSSELRIQICKCIVDFYHAEPPKKHIPGYQQASSSYKIQMAEVGGLAKTMVQSMTLLENQLVEKLWVLKVLQHLSTSEVNCTIMMKAQAASGICTHLNDPDPSGQLLFRSSEILWNLLEKSSKEEVIQQLSNLECLLALKEVFKNLFMRGFSHYDRQLRNDILVITTIIAQNPEAPMILLIDGKVILALFTYVKKPEKQKIIDWSAAQHEELQLHAIATLSSVAPLLIEEYMSCQGNARVLAFLEWCESEDPFFSHGNSFHGTGGRGNKFAQMRYSLRLLRAVVYLEDETVNKDLCEKGTIQQMIGIFKNIISKPNEKEEAIVLEIQSDILLILSGLCENHIQRKEIFGTEGVDIVLHVMKTDPRKLQSGLGYNVLLFSTLDSIWCCILGCYPSEDYFLEKEGIFLLLDLLAKDQTAASLLIKLW" } }, { "url": "https://www.uniprot.org/uniprot/A5D8W1#A5D8W1-3", "isoform_ac": "A5D8W1-3", "locus": { "end_pos": 90245425, "start_pos": 90273991, "chromosome": "7", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000451029", "id": "ENST00000451029", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000411234", "id": "ENSP00000411234", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A5D8W1-3|CFA69_HUMAN Isoform 3 of Cilia- and flagella-associated protein 69 OS=Homo sapiens OX=9606 GN=CFAP69 PE=1 SV=3 CANONICAL=A5D8W1-1", "length": 229, "sequence": "MWTEEAGATAEAQESGIRNKSSSSSQIPVVGVVTEDDEAQDVFKPMDLNRVIKLLEETDKDGLEEKQLKFVKKLVQCYQNGLPLRDLAQIFKILNLCSGKIKNQPRFIESAYDIIKLCGLPFLKKKVSDEITYAEDTANSIALLGDLMKIPSSELRIQICKCIVDFYHAEPPKKHIPGYQQASSSYKIQMAEVGGLAKTMVQSMTLLENQLVEKLWVLKVLQHLSTSGL" } }, { "url": "https://www.uniprot.org/uniprot/A5D8W1#H7C468-1", "isoform_ac": "H7C468-1", "locus": { "end_pos": 90304036, "start_pos": 90310237, "chromosome": "7", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000412839", "id": "ENST00000412839", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000415818", "id": "ENSP00000415818", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|H7C468-1|CFA69_HUMAN Computationally mapped isoform of Cilia- and flagella-associated protein 69 OS=Homo sapiens OX=9606 GN=CFAP69 PE=1 SV=1 CANONICAL=A5D8W1-1", "length": 170, "sequence": "XPSIAVMDVSENIRAKIYAILGKLDFENLPGLSAEDFVTLCIIHRYLDFKIQATHKQRELANKSWEDFLARTSNAKTLKKAKSLQEKAIEASRYHKRPQNAIFHQTHIKGLNTTVPSGGVVTVESTPARLVGGPLVDTDIALKKLPIRGGALQRVKAVKIVDAPKKSIPT" } }, { "url": "https://www.uniprot.org/uniprot/A5D8W1#A5D8W1-4", "isoform_ac": "A5D8W1-4", "locus": { "end_pos": 0, "start_pos": 0, "chromosome": "", "evidence": [] }, "sequence": { "header": "sp|A5D8W1-4|CFA69_HUMAN Isoform 4 of Cilia- and flagella-associated protein 69 OS=Homo sapiens OX=9606 GN=CFAP69 PE=1 SV=3 CANONICAL=A5D8W1-1", "length": 227, "sequence": "MWTEEAGATAEAQESGIRNKSSSSSQIPVVGVVTEDDEAQDVFKPMDLNRVIKLLEETDKDGLEEKQLKFVKKLVQCYQNGLPLRDLAQIFKILNLCSGKIKNQPRFIESAYDIIKLLPFLKKKVSDEITYAEDTANSIALLGDLMKIPSSELRIQICKCIVDFYHAEPPKKHIPGYQQASSSYKIQMAEVGGLAKTMVQSMTLLENQLVEKLWVLKVLQHLSTSGL" } }, { "url": "https://www.uniprot.org/uniprot/A5D8W1#H7BZV2-1", "isoform_ac": "H7BZV2-1", "locus": { "end_pos": 90279773, "start_pos": 90310235, "chromosome": "7", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000449577", "id": "ENST00000449577", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000391571", "id": "ENSP00000391571", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|H7BZV2-1|CFA69_HUMAN Computationally mapped isoform of Cilia- and flagella-associated protein 69 OS=Homo sapiens OX=9606 GN=CFAP69 PE=1 SV=1 CANONICAL=A5D8W1-1", "length": 478, "sequence": "ELQLHAIATLSSVAPLLIEEYMSCQGNARVLAFLEWCESEDPFFSHGNSFHGTGGRGNKFAQMRYSLRLLRAVVYLEDETVNKDLCEKGTIQQMIGIFKNIISKPNEKEEAIVLEIQSDILLILSGLCENHIQRKEIFGTEGVDIVLHVMKTDPRKLQSGLGYNVLLFSTLDSIWCCILGCYPSEDYFLEKEGIFLLLDLLALNQKKFCNLILGIMVEFCDNPKTAAHVNAWQGKKDQTAASLLIKLWRKEEKELGVKRDKNGKIIDFENLPGLSAEDFVTLCIIHRYLDFKIGEIWNEIYEEIKLEKLRPVTTDKKALEAITTASENIGKMVASLQSDIIESQACQDMQNEQKVYAKIQATHKQRELANKSWEDFLARTSNAKTLKKAKSLQEKAIEASRYHKRPQNAIFHQTHIKGLNTTVPSGGVVTVESTPARLVGGPLVDTDIALKKLPIRGGALQRVKAVKIVDAPKKSIPT" } }, { "url": "https://www.uniprot.org/uniprot/A5D8W1#A5D8W1-5", "isoform_ac": "A5D8W1-5", "locus": { "end_pos": 90245425, "start_pos": 90310235, "chromosome": "7", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000497910", "id": "ENST00000497910", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000419549", "id": "ENSP00000419549", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A5D8W1-5|CFA69_HUMAN Isoform 5 of Cilia- and flagella-associated protein 69 OS=Homo sapiens OX=9606 GN=CFAP69 PE=1 SV=3 CANONICAL=A5D8W1-1", "length": 923, "sequence": "MWTEEAGATAEAQESGIRNKSSSSSQIPVVGVVTEDDEAQDVFKPMDLNRVIKLLEETDKDGLEEKQLKFVKKLVQCYQNGLPLRDLAQIFKILNLCSGKIKNQPRFIESAYDIIKLCGLPFLKKKVSDEITYAEDTANSIALLGDLMKIPSSELRIQICYQQASSSYKIQMAEVGGLAKTMVQSMTLLENQLVEKLWVLKVLQHLSTSEVNCTIMMKAQAASGICTHLNDPDPSGQLLFRSSEILWNLLEKSSKEEVIQQLSNLECLLALKEVFKNLFMRGFSHYDRQLRNDILVITTIIAQNPEAPMIECGFTKDLILFATFNEVKSQNLLVKGLKLSNSYEDFELKKLLFNVIVILCKDLPTVQLLIDGKVILALFTYVKKPEKQKIIDWSAAQHEELQLHAIATLSSVAPLLIEEYMSCQGNARVLAFLEWCESEDPFFSHGNSFHGTGGRGNKFAQMRYSLRLLRAVVYLEDETVNKDLCEKGTIQQMIGIFKNIISKPNEKEEAIVLEIQSDILLILSGLCENHIQRKEIFGTEGVDIVLHVMKTDPRKLQSGLGYNVLLFSTLDSIWCCILGCYPSEDYFLEKEGIFLLLDLLALNQKKFCNLILGIMVEFCDNPKTAAHVNAWQGKKDQTAASLLIKLWRKEEKELGVKRDKNGKIIDTKKPLFTSFQEEQKIIPLPANCPSIAVMDVSENIRAKIYAILGKLDFENLPGLSAEDFVTLCIIHRYLDFKIGEIWNEIYEEIKLEKLRPVTTDKKALEAITTASENIGKMVASLQSDIIESQACQDMQNEQKVYAKIQATHKQRELANKSWEDFLARTSNAKTLKKAKSLQEKAIEASRYHKRPQNAIFHQTHIKGLNTTVPSGGVVTVESTPARLVGGPLVDTDIALKKLPIRGGALQRVKAVKIVDAPKKSIPT" } }, { "url": "https://www.uniprot.org/uniprot/A5D8W1#F8WBX7-1", "isoform_ac": "F8WBX7-1", "locus": { "end_pos": 90245425, "start_pos": 90268286, "chromosome": "7", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000427396", "id": "ENST00000427396", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000411143", "id": "ENSP00000411143", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|F8WBX7-1|CFA69_HUMAN Computationally mapped isoform of Cilia- and flagella-associated protein 69 OS=Homo sapiens OX=9606 GN=CFAP69 PE=1 SV=1 CANONICAL=A5D8W1-1", "length": 119, "sequence": "MWTEEAGATAEAQESGIRNKSSSSSQIPVVGVVTEDDEAQDVFKPMDLNRVIKLLEETDKDGLEEKQLKFVKKLVQCYQNGLPLRDLAQIFKILNLCSGKIKNQPRFIESAYDIIKLCG" } }, { "url": "https://www.uniprot.org/uniprot/A5D8W1#H7C3Z7-1", "isoform_ac": "H7C3Z7-1", "locus": { "end_pos": 90307077, "start_pos": 90310237, "chromosome": "7", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000445156", "id": "ENST00000445156", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000414772", "id": "ENSP00000414772", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|H7C3Z7-1|CFA69_HUMAN Computationally mapped isoform of Cilia- and flagella-associated protein 69 OS=Homo sapiens OX=9606 GN=CFAP69 PE=1 SV=1 CANONICAL=A5D8W1-1", "length": 93, "sequence": "XEQKVYAKIQATHKQRELANKSWEDFLARTSNAKTLKVPSGGVVTVESTPARLVGGPLVDTDIALKKLPIRGGALQRVKAVKIVDAPKKSIPT" } } ], "pathway": [ { "url": "https://www.genome.jp/dbget-bin/www_bget?hsa:79846", "resource": "KEGG Pathway", "id": "hsa:79846", "name": "" } ], "function": [ { "url": "https://www.uniprot.org/uniprot/A5D8W1#function", "annotation": "Cilium- and flagellum-associated protein (PubMed:29606301). In the olfactory epithelium, regulates the speed of activation and termination of the odor response and thus contributes to the robustness of olfactory transduction pathways (By similarity). Required for sperm flagellum assembly and stability (PubMed:29606301).", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A5D8W1#function", "id": "A5D8W1", "database": "UniProtKB" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034795.2", "annotation": "CFAP69 is necessary for flagellum assembly/stability and that in both humans and mice", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034795.2", "id": "NP_001034795.2", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034795.2", "annotation": "A CpG island proximal to FLJ21062 is frequently methylated in diffuse large B-cell lymphoma (DLBCL).", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034795.2", "id": "NP_001034795.2", "database": "RefSeq" } ] } ], "orthologs": [ { "uniprot_canonical_ac": "Q8BH53-1", "protein_name": "Cilia- and flagella-associated protein 69.", "sequence": { "length": 942, "sequence": "MSTAEASATTADAAEAGGRTKTGSPRTIPVFGVAIPDGEMQGIFKPMDLNRIIKVLEEEDKDVSEEKQLNYIKKLIHCYQNGFPLRDLAQIFKILSLCAEKIEKQPCFVEPASDIIKLCGLPFLKKKVSDEITYTEDTANSFALLGELMKIPSSALRIQICKCIVDFYHAEPLKKHIPGYQQVSSSYKIKMVEVGGLAKAMVQSALLLENQLVEKLWVLKVLQHLSTSGVNCTLMVKAQAASGICAHLNDPDPSGQLLFRSSEVLWNLLEKSSKEEIIQQLSNLECLLALKEVFKNLFVRGHSHYERQLRNDILVITTIIAQNPGAPMIECGFTRDLILFATFNEVKSQNPLVKSLKLFNCYEDFELKKLLFNIIVILCKDLATVQLLIDGKVILALFTYVKKPERLKIMEWSAAQYEELQLHAIATLSSVAPLLIEEYMSCHGNSRILAFLEWCGHEDSYFIHGNSFHGTGGRGNKFAQMRYTLRLLRAMVYLEDETVNKDLCERGVIHQLIEIFKTMMSRPAEKEEAIALEIQSDTLLILSGLCENYIQRKEMFGTEGVDIVLHVMKTDPKNLQRGLGYNVLLFSTLDSIWCCILGCYDSEDYFLEKEGIFLLLDILALNQKKFCNLILGIMVEFCDNPKTSAHVNAWRGKKDLTAASLLIKLWRKEEKELGVKRDRNGKIVDTKRPLFTSFQEEQKTMPLPANCPSIAVMDVAENIRAKIYAVLDKLDFENLPGLSAEDFVTLCIIHRYFDFKIGEIWNEVSEEIKLEKLRLVTTDEKSLNSIIAATENIGKMVASLQSEMIENQALQDVQNEQRVYAKIQATHKQREQANKSWENFLARTSNAKTLKKAKKLQEKAIESSRYTERPQNATFHQTVIKGLNTTVPSGRVVTVQSTPTRLLGGPLADTDIALKKLPIRGGALQRVKVKPPLNDPKKSIPT" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/11718", "id": "11718", "database": "MGI" }, { "url": "https://omabrowser.org/oma/group/A5D8W1/", "id": "A5D8W1", "database": "OMA" } ], "organism": "Mus musculus", "tax_id": 10090 }, { "uniprot_canonical_ac": "D4A7D1-1", "protein_name": "Cilia and flagella-associated protein 69.", "sequence": { "length": 941, "sequence": "MSTAEASAVAADAAEVGGRTKTGSPRTIPVFGVAIPDGEMQDIFKPMDLNRIIKLLEEDDKDVSEEKQLKYIKKLTHCYQNGFPLRDLAQIFKILSLCAEKIEKQPCFVEPASEIIKLCGLPFLKKKVSDEITYTEDTANSFALLGELMKIPSSKLRIQICKCIVDFYHAEPLKKHISGYQQVSSSFKIKMVEVGGLAKAMVQSALLLENQLVEKLWVLKVLQHLSTSGVNCTLMVKAQAASRICAHLNDPDPSGQLLFRSSEVLWNLLEKSSKEEIIQQLSNLECLLTLKEVFKNLVMRGHSHYERQLRNDILVITTIIAQNPGAPMIECGFTRDLILFATFNEVKSQNPLVKSLKLFNCYEDFELKKLLFNIIVILCKDLTTVQLLIDGKVILALLTYVKKPERLKIIEWSAAQYEELQLHAIATLSSVAPLLIEEYMSCHGNARILAFLEWCGHEDSYFIHGNSFHGTGGRGNKFAQMRYTLRLLRAMVYLEDETVNKDLCERGVIHQLIEIFKTMMSRPAEKEEAIALEIQSDTLLILSGLCENYIQRKEMFGTEGVDIVLHVMKTDPKNLQRGLGYNVLLFSTLDSIWCCILGCYSSEDYFLEKEGIFLLLDILALNQKKFCNLILGIMVEFCDNPKTSAHVNAWRGKKDLTAASLLIKLWRKEEKELGVKRDKNGKIVDTKRPLFTSFQEEQKIVPLPANCPSIAVMDVAENIRAKIYAVLDKLDFENLPGLSAEDFVTLCIIHRYLDFKIGEIWTEVSEEIKLEKLRLVTVDEKSLHSIIAATENIGKMVASLQSEMIENQALQDVQNEQRVYAKIQATHKQRDQAHKSWENFLARTSNAKTLKKAKRLQEKAIESSRYSKRPQNAIFHQTVIKGLNTTVTSGQVVTVESTPTRLLGGPLADTDIALKKLPIRGGALQKVKVKPLDGLKKTVPI" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/11718", "id": "11718", "database": "MGI" }, { "url": "https://omabrowser.org/oma/group/A5D8W1/", "id": "A5D8W1", "database": "OMA" } ], "organism": "Rattus norvegicus", "tax_id": 10116 } ], "refseq": { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034795.2", "ac": "NP_001034795.2", "name": "cilia- and flagella-associated protein 69 isoform 1.", "summary": "" }, "go_annotation": { "categories": [ { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A5D8W1", "id": "A5D8W1", "database": "UniProtKB" } ], "name": "cytoplasm", "id": "GO:0005737" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097225", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A5D8W1", "id": "A5D8W1", "database": "UniProtKB" } ], "name": "sperm midpiece", "id": "GO:0097225" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097730", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A5D8W1", "id": "A5D8W1", "database": "UniProtKB" } ], "name": "non-motile cilium", "id": "GO:0097730" } ], "total": 3, "name": "Cellular Component" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042048", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A5D8W1", "id": "A5D8W1", "database": "UniProtKB" } ], "name": "olfactory behavior", "id": "GO:0042048" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007283", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A5D8W1", "id": "A5D8W1", "database": "UniProtKB" } ], "name": "spermatogenesis", "id": "GO:0007283" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A5D8W1", "id": "A5D8W1", "database": "UniProtKB" } ], "name": "cell differentiation", "id": "GO:0030154" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007608", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A5D8W1", "id": "A5D8W1", "database": "UniProtKB" } ], "name": "sensory perception of smell", "id": "GO:0007608" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990834", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A5D8W1", "id": "A5D8W1", "database": "UniProtKB" } ], "name": "response to odorant", "id": "GO:1990834" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905516", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A5D8W1", "id": "A5D8W1", "database": "UniProtKB" } ], "name": "positive regulation of fertilization", "id": "GO:1905516" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902093", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A5D8W1", "id": "A5D8W1", "database": "UniProtKB" } ], "name": "positive regulation of flagellated sperm motility", "id": "GO:1902093" } ], "total": 7, "name": "Biological Process" } ] }, "site_annotation": [ { "end_pos": 21, "annotation": "n_glycosylation_sequon", "start_pos": 19 }, { "end_pos": 232, "annotation": "n_glycosylation_sequon", "start_pos": 230 }, { "end_pos": 835, "annotation": "n_glycosylation_sequon", "start_pos": 833 }, { "end_pos": 885, "annotation": "n_glycosylation_sequon", "start_pos": 883 } ], "crossref": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034795.2", "id": "NP_001034795.2", "database": "RefSeq" }, { "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=26107", "id": "26107", "database": "HGNC" }, { "url": "https://pharos.nih.gov/targets/A5D8W1", "id": "A5D8W1", "database": "PHAROS" }, { "url": "https://www.nextprot.org/entry/NX_A5D8W1", "id": "NX_A5D8W1", "database": "neXtProt" }, { "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=CFAP69", "id": "CFAP69", "database": "GeneCards" }, { "url": "https://www.genome.jp/dbget-bin/www_bget?hsa:79846", "id": "hsa:79846", "database": "KEGG Pathway" }, { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105792", "id": "ENSG00000105792", "database": "Bgee" }, { "url": "https://omabrowser.org/oma/group/HPTDIKG/", "id": "HPTDIKG", "database": "OMA" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR011989", "id": "IPR011989", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR016024", "id": "IPR016024", "database": "InterPro" }, { "url": "http://research.bioinformatics.udel.edu/pro/entry/PR_A5D8W1", "id": "PR_A5D8W1", "database": "PRO" }, { "url": "https://www.ebi.ac.uk/intact/interactors/id:A5D8W1*", "id": "A5D8W1", "database": "IntAct" }, { "url": "https://www.ncbi.nlm.nih.gov/gene/79846", "id": "79846", "database": "GeneID" } ], "expression_disease": [ { "trend": "Down", "disease": { "doid": "3907", "url": "http://disease-ontology.org/term/DOID:3907", "icd10": "", "name": "DOID:3907 / Lung squamous cell carcinoma" }, "significant": "Yes", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A5D8W1", "id": "A5D8W1", "database": "BioXpress" } ] }, { "trend": "Down", "disease": { "doid": "5041", "url": "http://disease-ontology.org/term/DOID:5041", "icd10": "", "name": "DOID:5041 / Esophageal cancer [EC]" }, "significant": "No", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A5D8W1", "id": "A5D8W1", "database": "BioXpress" } ] }, { "trend": "Down", "disease": { "doid": "11054", "url": "http://disease-ontology.org/term/DOID:11054", "icd10": "", "name": "DOID:11054 / Urinary bladder cancer [UBC]" }, "significant": "Yes", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A5D8W1", "id": "A5D8W1", "database": "BioXpress" } ] }, { "trend": "Up", "disease": { "doid": "10283", "url": "http://disease-ontology.org/term/DOID:10283", "icd10": "", "name": "DOID:10283 / Prostate cancer [PCa]" }, "significant": "No", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A5D8W1", "id": "A5D8W1", "database": "BioXpress" } ] }, { "trend": "Down", "disease": { "doid": "3910", "url": "http://disease-ontology.org/term/DOID:3910", "icd10": "", "name": "DOID:3910 / Lung adenocarcinoma" }, "significant": "No", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A5D8W1", "id": "A5D8W1", "database": "BioXpress" } ] }, { "trend": "Down", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "DOID:1781 / Thyroid cancer [Thyca]" }, "significant": "Yes", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A5D8W1", "id": "A5D8W1", "database": "BioXpress" } ] }, { "trend": "Down", "disease": { "doid": "3571", "url": "http://disease-ontology.org/term/DOID:3571", "icd10": "", "name": "DOID:3571 / Liver cancer [Livca]" }, "significant": "No", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A5D8W1", "id": "A5D8W1", "database": "BioXpress" } ] } ], "uniprot_ac": "A5D8W1", "disease": [ { "doid": "000000", "url": 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"database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002367", "uberon": "0002367", "name": "Prostate gland" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105792", "id": "ENSG00000105792", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001161", "uberon": "0001161", "name": "Body of stomach" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105792", "id": "ENSG00000105792", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001255", "uberon": "0001255", "name": "Urinary bladder" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105792", "id": "ENSG00000105792", "database": "Bgee" } ] } ], "gene": [ { "url": "https://www.uniprot.org/uniprot/A5D8W1", "name": "CFAP69; C7orf63; FAP69; SPGF24.", "locus": { "end_pos": 90311063, "start_pos": 90245174, "chromosome": 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