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(1.1%)." }, { "sequence_org": "Y", "start_pos": 1173, "subjects_positive": "1", "disease": [ { "synonyms": [ { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid neoplasm", "description": "" } ], "recommended_name": { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid gland cancer", "description": "" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A4FU69", "id": "A4FU69", "database": "BioMuta" } ], "frequency": "2.0", "sequence_mut": "H", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 1173, "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%)." }, { "sequence_org": "A", "start_pos": 100, "subjects_positive": "1", "disease": [ { "synonyms": [ { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid neoplasm", "description": "" } ], "recommended_name": { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid gland cancer", "description": "" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A4FU69", "id": "A4FU69", "database": "BioMuta" } ], "frequency": "2.0", "sequence_mut": "S", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 100, "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%)." }, { "sequence_org": "S", "start_pos": 326, "subjects_positive": "1", "disease": [ { "synonyms": [ { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid neoplasm", "description": "" } ], "recommended_name": { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid gland cancer", "description": "" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A4FU69", "id": "A4FU69", "database": "BioMuta" } ], "frequency": "2.0", "sequence_mut": "*", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 326, "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%)." }, { "sequence_org": "Q", "start_pos": 266, "subjects_positive": "1", "disease": [ { "synonyms": [ { "id": "1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "breast tumor", "description": "" }, { "id": "1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "malignant neoplasm of breast", "description": "" }, { "id": "1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "malignant tumor of the breast", "description": "" }, { "id": "1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "mammary cancer", "description": "" }, { "id": "1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "mammary tumor", "description": "" }, { "id": "1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "primary breast cancer", "description": "" } ], "recommended_name": { "id": "1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "breast cancer", "description": "" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A4FU69", "id": "A4FU69", "database": "BioMuta" } ], "frequency": "1.4", "sequence_mut": "H", "subjects_tested": "72", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 266, "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (1.4%)." }, { "sequence_org": "S", "start_pos": 1149, "subjects_positive": "1", "disease": [ { "synonyms": [ { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid neoplasm", "description": "" } ], "recommended_name": { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid gland cancer", "description": "" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A4FU69", "id": "A4FU69", "database": "BioMuta" } ], "frequency": "2.0", "sequence_mut": "R", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 1149, "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%)." } ], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A4FU69#H0Y4M1-1", "isoform_ac": "H0Y4M1-1", "locus": { "end_pos": 29943628, "start_pos": 29999933, "chromosome": "17", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000638539", "id": "ENST00000638539", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000492792", "id": "ENSP00000492792", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|H0Y4M1-1|EFCB5_HUMAN Computationally mapped isoform of EF-hand calcium-binding domain-containing protein 5 OS=Homo sapiens OX=9606 GN=EFCAB5 PE=1 SV=2 CANONICAL=A4FU69-1", "length": 56, "sequence": "MDEIKSQELNLEGQRKISPGSIKDSKTEASDSECSSRILSKSRFQAWITLQTTGYY" } }, { "url": "https://www.uniprot.org/uniprot/A4FU69#K7EJC3-1", "isoform_ac": "K7EJC3-1", "locus": { "end_pos": 29969206, "start_pos": 30108023, "chromosome": "17", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000588978", "id": "ENST00000588978", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000465109", "id": "ENSP00000465109", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|K7EJC3-1|EFCB5_HUMAN Computationally mapped isoform of EF-hand calcium-binding domain-containing protein 5 OS=Homo sapiens OX=9606 GN=EFCAB5 PE=1 SV=1 CANONICAL=A4FU69-1", "length": 774, "sequence": "XDTPSKFDPINYLGEYLIRNNPNYIKDPGMSGYQRLMKEVTEDLKIYVPDTICNRVSKMKENVKQNRKQRESIDKIIVKVANTRKQALQEQFDEWILDPKGMIPKSVIQNVLQEFFQNPDFKLGSHCKQLDITDSTEPRLNKMEFTEYISSHIKDLKSEMFEELLKHLCHSADEFREVIKADMRRQMFAELFLHCDHGKVGFLDRQRTLALLELFYDHSSQMLRSLLRNPRQWPFIEFEEINLTELWGDMDNQKHIYEGFDKVLLEMNTLLSANHASKTQSKLLESPDQPKLNEQRTSTPSPNPPEQQRGVTAEQGPQRISIEEQQQGKKPTAEQELYIESVIEPGTHTESTLEQGSSRRLLTEQETHRESTTEQGQHKGSIEGQGPRRVSVSEQGSSRESVAEQGSRRESIAEQDRHKGSVAEQGSRRMSAAEQGSLRESVIEEPYQKSEQGPYGEIISEEQEDIGSTSQSRKDSILKSTKYGEPITSEYIEVPLQEKRSWEQTYEEEIFLSSELQEEVPTLSRKDHFPETTKKEVQKDKPCEPKSQKIEGKSWSGEFFTCNWKMKYVTFEDEEQANLIYGNSRFTDLHSIIRNIQSCKEVKGRTAFNGVSFNLLQFVQLLETFVGEDAPLSVSETLTSFFKEGYVETEQEKMNALEQFSQNAFQVRQRLLLEAIFQKWDSDGSGFLDLKEVDELLYTYKEGMEKESMKKDHSRTEVWKFGNVVIEHLYHWIHICSALMKITKQLNSGITPPLPSKTDNYMYAKMPGEGLQEK" } }, { "url": "https://www.uniprot.org/uniprot/A4FU69#C9J1E6-1", "isoform_ac": "C9J1E6-1", "locus": { "end_pos": 29943628, "start_pos": 29969077, "chromosome": "17", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000448319", "id": "ENST00000448319", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000400023", "id": "ENSP00000400023", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|C9J1E6-1|EFCB5_HUMAN Computationally mapped isoform of EF-hand calcium-binding domain-containing protein 5 OS=Homo sapiens OX=9606 GN=EFCAB5 PE=1 SV=1 CANONICAL=A4FU69-1", "length": 103, "sequence": "MDEIKSQELNLEGQRKISPGSIKDSKTEASGNIAIRKSAKVIFALDETELKSKPEHTWKKNLFERMEARAQAMQQKIIDKENLKKELEKKAEKKLPRDNLAKE" } }, { "url": "https://www.uniprot.org/uniprot/A4FU69#A4FU69-6", "isoform_ac": "A4FU69-6", "locus": { "end_pos": 0, "start_pos": 0, "chromosome": "N/A", "evidence": [] }, "sequence": { "header": "sp|A4FU69-6|EFCB5_HUMAN Isoform 6 of EF-hand calcium-binding domain-containing protein 5 OS=Homo sapiens OX=9606 GN=EFCAB5 PE=1 SV=3 CANONICAL=A4FU69-1", "length": 569, "sequence": "MEFTEYISSHIKDLKSEMFEELLKHLCHSADEFREVIKADMRRQMFAELFLHCDHGKVGFLDRQRTLALLELFYDHSSQMLRSLLRNPRQWPFIEFEEINLTELWGDMDNQKHIYEGFDKVLLEMNTLLSANHASKTQSKLLESPDQPKLNEQRTSTPSPNPPEQQRGVTAEQGPQRISIEEQQQGKKPTAEQELYIESVIEPGTHTESTLEQGSSRRLLTEQETHRESTTEQGQHKGSIEGQGPRRVSVSEQGSSRESVAEQGSRRESIAEQDRHKGSVAEQGSRRMSAAEQGSLRESVIEEPYQKSEQGPYGEIISEEQEDIGSTSQSRKDSILKSTKYGEPITSEYIEVPLQEKRSWEQTYEEEIFLSSELQEEVPTLSRKDHFPETTKKEVQKDKPCEPKSQKIEGKSWSGEFFTCNWKMKYVTFEDEEQANLIYGNSRFTDLHSIIRNIQSCKEVKGRTAFNGVSFNLLQFVQLLETFVGEDAPLSVSETLTSFFKEGYVETEQEKMNALEQVSLCRQAGVQWRNCSSLQPPTPGLKRSSHHRLLSNWDYRERRKFFPLETKFP" } }, { "url": "https://www.uniprot.org/uniprot/A4FU69#A4FU69-4", "isoform_ac": "A4FU69-4", "locus": { "end_pos": 0, "start_pos": 0, "chromosome": "N/A", "evidence": [] }, "sequence": { "header": "sp|A4FU69-4|EFCB5_HUMAN Isoform 4 of EF-hand calcium-binding domain-containing protein 5 OS=Homo sapiens OX=9606 GN=EFCAB5 PE=1 SV=3 CANONICAL=A4FU69-1", "length": 975, "sequence": "MNESASQEELRPAQENRKEDKERKWNLTEVKELHETLQSVPDVPVKEDTNSVVEKAMDEIKSQELNLEGQRKISPGSIKDSKTEASGNIAIRKSAKVIFALDETELKSKPEHTWKKNLFERMEARAQAMQQKIIDKENLKKELEKKAEKKLPRDNLAKEWFNTDSMTLNNTAYLLDKLLPTLVPGVENMLTQVEKKKVLTEADTPSKFDPINYLGEYLIRNNPNYIKDPGMSGYQRLMKEVTEDLKIYVPDTICNRVSKMKENVKQNRKQRESIDKIIVKVANTRKQALQEQFDEWILDPKGMIPKSVIQNVLQEFFQNPDFKLGSHCKQLDITDSTEPRLNKMEFTEYISSHIKDLKSEMFEELLKHLCHSADEFREVIKADMRRQMFAELFLHCDHGKVGFLDRQRTLALLELFYDHSSQMLRSLLRNPRQWPFIEFEEINLTELWGDMDNQKHIYEGFDKVLLEMNTLLSANHASKTQSKLLESPDQPKLNEQRTSTPSPNPPEQQRGVTAEQGPQRISIEEQQQGKKPTAEQELYIESVIEPGTHTESTLEQGSSRRLLTEQETHRESTTEQGQHKGSIEGQGPRRVSVSEQGSSRESVAEQGSRRESIAEQDRHKGSVAEQGSRRMSAAEQGSLRESVIEEPYQKSEQGPYGEIISEEQEDIGSTSQSRKDSILKSTKYGEPITSEYIEVPLQEKRSWEQTYEEEIFLSSELQEEVPTLSRKDHFPETTKKEVQKDKPCEPKSQKIEGKSWSGEFFTCNWKMKYVTFEDEEQANLIYGNSRFTDLHSIIRNIQSCKEVKGRTAFNGVSFNLLQFVQLLETFVGEDAPLSVSETLTSFFKEGYVETEQEKMNALEQFSQNAFQVRQRLLLEAIFQKWDSDGSGFLDLKEVDELLYTYKEGMEKESMKKDHSRTEVWKFGNVVIEHLYHWIHICSALMKITKQLNSGITPPLPSKTDNYMYAKMPGEGLQEK" } }, { "url": "https://www.uniprot.org/uniprot/A4FU69#A4FU69-5", "isoform_ac": "A4FU69-5", "locus": { "end_pos": 29943628, "start_pos": 30073687, "chromosome": "17", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000536908", "id": "ENST00000536908", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000440619", "id": "ENSP00000440619", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A4FU69-5|EFCB5_HUMAN Isoform 5 of EF-hand calcium-binding domain-containing protein 5 OS=Homo sapiens OX=9606 GN=EFCAB5 PE=1 SV=3 CANONICAL=A4FU69-1", "length": 856, "sequence": "MDEIKSQELNLEGQRKISPGSIKDSKTEASGNIAIRKSAKVIFALDETELKSKPEHTWKKNLFERMEARAQAMQQKIIDKENLKKELEKKAEKKLPRDNLAKEWFNTDSMTLNNTAYLLDKLLPTLVPGVENMLTQVEKKKVLTEADTPSKFDPINYLGEYLIRNNPNYIKDPGMSGYQRLMKEVTEDLKIYVPDTICNRVSKMKENVKQNRKQRESIDKIIVKVANTRKQALQEQFDEWILDPKGMIPKSVIQNVLQEFFQNPDFKLGSHCKQLDITDSTEPRLNKMEFTEYISSHIKDLKSEMFEELLKHLCHSADEFREVIKADMRRQMFAELFLHCDHGKVGFLDRQRTLALLELFYDHSSQMLRSLLRNPRQWPFIEFEEINLTELWGDMDNQKHIYEGFDKVLLEMNTLLSANHASKTQSKLLESPDQPKLNEQRTSTPSPNPPEQQRGVTAEQGPQRISIEEQQQGKKPTAEQELYIESVIEPGTHTESTLEQGSSRRLLTEQETHRESTTEQGQHKGSIEGQGPRRVSVSEQGSSRESVAEQGSRRESIAEQDRHKGSVAEQGSRRMSAAEQGSLRESVIEEPYQKSEQGPYGEIISEEQEDIGSTSQSRKDSILKSTKYGEPITSEYIEVPLQEKRSWEQTYEEEIFLSSELQEEVPTLSRKDHFPETTKKEVQKDKPCEPKSQKIEGKSWSGEFFTCNWKMKYVTFEDEEQANLIYGNSRFTDLHSIIRNIQSCKEVKGRTAFNGVSFNLLQFVQLLETFVGEDAPLSVSETLTSFFKEGYVETEQEKMNALEQVSLCRQAGVQWRNCSSLQPPTPGLKRSSHHRLLSNWDYRERRKFFPLETKFP" } }, { "url": "https://www.uniprot.org/uniprot/A4FU69#A4FU69-2", "isoform_ac": "A4FU69-2", "locus": { "end_pos": 29941797, "start_pos": 30073123, "chromosome": "17", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000440741", "id": "ENST00000440741", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000393095", "id": "ENSP00000393095", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A4FU69-2|EFCB5_HUMAN Isoform 2 of EF-hand calcium-binding domain-containing protein 5 OS=Homo sapiens OX=9606 GN=EFCAB5 PE=1 SV=3 CANONICAL=A4FU69-1", "length": 926, "sequence": "MNESASQEELRPAQENRKEDKERKWNLTEVKELHETLQSVPDVPVKEDTNSVVEKAMDEIKSQELNLEGQRKISPGSIKDSKTEASGNIAIRKSAKVIFALDETELKSKPEHTWKKNLFERMEARAQAMQQKIIDKENLKKELEKKAEKKLPRDNLAKEWFNTDSMTLNNTAYLLDKLLPTLVPGVENMLTQVEKKKVLTEADTPSKFDPINYLGEYLIRNNPNYIKDPGMSGYQRLMKEVTEDLKIYVPDTICNRVSKMKENVKQNRKQRESIDKIIVKVANTRKQALQEQFDEWILDPKGMIPKSVIQNVLQEFFQNPDFKLGSHCKQLDITDSTEPRLNKMEFTEYISSHIKDLKSEMFEELLKHLCHSADEFREVIKADMRRQMFAELFLHCDHGKVGFLDRQRTLALLELFYDHSSQMLRSLLRNPRQWPFIEFEEINLTELWGDMDNQKHIYEGFDKVLLEMNTLLSANHASKTQSKLLESPDQPKLNEQRTSTPSPNPPEQQRGVTAEQGPQRISIEEQQQGKKPTAEQELYIESVIEPGTHTESTLEQGSSRRLLTEQETHRESTTEQGQHKGSIEGQGPRRVSVSEQGSSRESVAEQGSRRESIAEQDRHKGSVAEQGSRRMSAAEQGSLRESVIEEPYQKSEQGPYGEIISEEQEDIGSTSQSRKDSILKSTKYGEPITSEYIEVPLQEKRSWEQTYEEEIFLSSELQEEVPTLSRKDHFPETTKKEVQKDKPCEPKSQKIEGKSWSGEFFTCNWKMKYVTFEDEEQANLIYGNSRFTDLHSIIRNIQSCKEVKGRTAFNGVSFNLLQFVQLLETFVGEDAPLSVSETLTSFFKEGYVETEQEKMNALEQFSQNAFQVRQRLLLEAIFQKWDSDGSGFLDLKEVDELLYTYKEGMEKESMKKGLTLSPGWSAVAQL" } }, { "url": "https://www.uniprot.org/uniprot/A4FU69#A4FU69-3", "isoform_ac": "A4FU69-3", "locus": { "end_pos": 0, "start_pos": 0, "chromosome": "N/A", "evidence": [] }, "sequence": { "header": "sp|A4FU69-3|EFCB5_HUMAN Isoform 3 of EF-hand calcium-binding domain-containing protein 5 OS=Homo sapiens OX=9606 GN=EFCAB5 PE=1 SV=3 CANONICAL=A4FU69-1", "length": 1379, "sequence": "MNESASQEELRPAQENRKEDKERKWNLTEVKELHETLQSVPDVPVKEDTNSVVEKAMDEIKSQELNLEGQRKISPGSIKDSKTEASGNIAIRKSAKVIFALDETELKSKPEHTWKKNLFERMEARAQAMQQKIIDKENLKKELEKKAEKKLPRDNLAKEWFNTDSMTLNNTAYLLDKLLPTLVPGVENMLTQVEKKKVLTEADTPSKFDPINYLGEYLIRNNPNYIKDPGMSGYQRLMKEVTEDLKIYVPDTICNRVSKMKENVKQNRKQRESIDKIIVKVANTRKQALQEQFDEWILDPKGMIPKSVIQNVLQEFFQNPDFKLGSHCKQLDITDSTEPRLNKMEFTEYISSHIKDLKSEMFEELLKHLCHSADEFREVIKADMRRQMFAELFLHCDHGKVGFLDRQRTLALLELFYDHSSQMLRSLLRNPRQWPFIEFEEINLTELWGDMDNQKHIYEGFDKVLLEMNTLLSANHASKTQSKLLESPDQPKLNEQRTSTPSPNPPEQQRGVTAEQGPQRISIEEQQQGKKPTAEQELYIESVIEPGTHTESTLEQGSSRRLLTEQETHRESTTEQGQHKGSIEGQGPRRVSVSEQGSSRESVAEQGSRRESIAEQDRHKGSVAEQGSRRMSAAEQGSLRESVIEEPYQKSEQGPYGEIISEEQEDIGSTSQSRKDSILKSTKYGEPITSEYIEVPLQEKRSWEQTYEEEIFLSSELQEEVPTLSRKDHFPETTKKEVQKDKPCEPKSQKIEGKSWSGEFFTCNWKMKYVTFEDEEQANLIYGNSRFTAKLHIQFPKPHPGHEVRLSSKQFQNYIELVVSELRGNEDQVLESVVEFLMNALERSHIESLRNSARRKWLHQIQCAAETSGVSLEPVYSETFKALMQDAEAHGNKKISAHISLLEENLLLPEKGNVLLRNVACTLDDAQFVLNRVLYRDMKGISFTVVDEGKPIHVPQVQYHGNIFFWNQSRNKHDYNGSFLALPLQDAYMRIFGVLAVDTLRDPHEINIFLPHEIRFYQGVANVFSTAYHYVHSREHILHIVITGIGWLYDVTSSITSITTYFVEPSPAQDSDYVLRNMMVTGQLGLTEIHKNPPTIHRKSCIFRDFLFKCTDSSEVVLASACGETHIVVPLRERTGEALGVLDFNIGQNRMLLCQEYKDLQKMMKVVQVACYEILGEFSGEIKKKYILEIENVREVQRAGILFFRIMLLELQESIQLLNSMEFVSLLLYDHTLVTEPNSPQDSKSMELEANVKLVRDILKAVILFFHPELEFSSDFGSWDKCKFYVNKYLVNNICAFDPTAKHVEVNVQLIDEYIRDHSRTEVWKFGNVVIEHLYHWIHICSALMKITKQLNSGITPPLPSKTDNYMYAKMPGEGLQEK" } }, { "url": "https://www.uniprot.org/uniprot/A4FU69#A4FU69-1", "isoform_ac": "A4FU69-1", "locus": { "end_pos": 29941797, "start_pos": 30108021, "chromosome": "17", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000394835", "id": "ENST00000394835", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000378312", "id": "ENSP00000378312", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A4FU69-1|EFCB5_HUMAN Isoform 1 of EF-hand calcium-binding domain-containing protein 5 OS=Homo sapiens OX=9606 GN=EFCAB5 PE=1 SV=3 CANONICAL=A4FU69-1", "length": 1503, "sequence": "MNESASQEELRPAQENRKEDKERKWNLTEVKELHETLQSVPDVPVKEDTNSVVEKAMDEIKSQELNLEGQRKISPGSIKDSKTEASGNIAIRKSAKVIFALDETELKSKPEHTWKKNLFERMEARAQAMQQKIIDKENLKKELEKKAEKKLPRDNLAKEWFNTDSMTLNNTAYLLDKLLPTLVPGVENMLTQVEKKKVLTEADTPSKFDPINYLGEYLIRNNPNYIKDPGMSGYQRLMKEVTEDLKIYVPDTICNRVSKMKENVKQNRKQRESIDKIIVKVANTRKQALQEQFDEWILDPKGMIPKSVIQNVLQEFFQNPDFKLGSHCKQLDITDSTEPRLNKMEFTEYISSHIKDLKSEMFEELLKHLCHSADEFREVIKADMRRQMFAELFLHCDHGKVGFLDRQRTLALLELFYDHSSQMLRSLLRNPRQWPFIEFEEINLTELWGDMDNQKHIYEGFDKVLLEMNTLLSANHASKTQSKLLESPDQPKLNEQRTSTPSPNPPEQQRGVTAEQGPQRISIEEQQQGKKPTAEQELYIESVIEPGTHTESTLEQGSSRRLLTEQETHRESTTEQGQHKGSIEGQGPRRVSVSEQGSSRESVAEQGSRRESIAEQDRHKGSVAEQGSRRMSAAEQGSLRESVIEEPYQKSEQGPYGEIISEEQEDIGSTSQSRKDSILKSTKYGEPITSEYIEVPLQEKRSWEQTYEEEIFLSSELQEEVPTLSRKDHFPETTKKEVQKDKPCEPKSQKIEGKSWSGEFFTCNWKMKYVTFEDEEQANLIYGNSRFTDLHSIIRNIQSCKEVKGRTAFNGVSFNLLQFVQLLETFVGEDAPLSVSETLTSFFKEGYVETEQEKMNALEQFSQNAFQVRQRLLLEAIFQKWDSDGSGFLDLKEVDELLYTYKEGMEKESMKKAKLHIQFPKPHPGHEVRLSSKQFQNYIELVVSELRGNEDQVLESVVEFLMNALERSHIESLRNSARRKWLHQIQCAAETSGVSLEPVYSETFKALMQDAEAHGNKKISAHISLLEENLLLPEKGNVLLRNVACTLDDAQFVLNRVLYRDMKGISFTVVDEGKPIHVPQVQYHGNIFFWNQSRNKHDYNGSFLALPLQDAYMRIFGVLAVDTLRDPHEINIFLPHEIRFYQGVANVFSTAYHYVHSREHILHIVITGIGWLYDVTSSITSITTYFVEPSPAQDSDYVLRNMMVTGQLGLTEIHKNPPTIHRKSCIFRDFLFKCTDSSEVVLASACGETHIVVPLRERTGEALGVLDFNIGQNRMLLCQEYKDLQKMMKVVQVACYEILGEFSGEIKKKYILEIENVREVQRAGILFFRIMLLELQESIQLLNSMEFVSLLLYDHTLVTEPNSPQDSKSMELEANVKLVRDILKAVILFFHPELEFSSDFGSWDKCKFYVNKYLVNNICAFDPTAKHVEVNVQLIDEYIRDHSRTEVWKFGNVVIEHLYHWIHICSALMKITKQLNSGITPPLPSKTDNYMYAKMPGEGLQEK" } }, { "url": "https://www.uniprot.org/uniprot/A4FU69#H0Y843-1", "isoform_ac": "H0Y843-1", "locus": { "end_pos": 29969183, "start_pos": 30108021, "chromosome": "17", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000419434", "id": "ENST00000419434", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000417009", "id": "ENSP00000417009", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|H0Y843-1|EFCB5_HUMAN Computationally mapped isoform of EF-hand calcium-binding domain-containing protein 5 OS=Homo sapiens OX=9606 GN=EFCAB5 PE=1 SV=1 CANONICAL=A4FU69-1", "length": 1185, "sequence": "KKKVLTEADTPSKFDPINYLGEYLIRNNPNYIKDPGMSGYQRLMKEVTEDLKIYVPDTICNRVSKMKENVKQNRKQRESIDKIIVKVANTRKQALQEQFDEWILDPKGMIPKSVIQNVLQEFFQNPDFKLGSHCKQLDITDSTEPRLNKMEFTEYISSHIKDLKSEMFEELLKHLCHSADEFREVIKADMRRQMFAELFLHCDHGKVGFLDRQRTLALLELFYDHSSQMLRSLLRNPRQWPFIEFEEINLTELWGDMDNQKHIYEGFDKVLLEMNTLLSANHASKTQSKLLESPDQPKLNEQRTSTPSPNPPEQQRGVTAEQGPQRISIEEQQQGKKPTAEQELYIESVIEPGTHTESTLEQGSSRRLLTEQETHRESTTEQGQHKGSIEGQGPRRVSVSEQGSSRESVAEQGSRRESIAEQDRHKGSVAEQGSRRMSAAEQGSLRESVIEEPYQKSEQGPYGEIISEEQEDIGSTSQSRKDSILKSTKYGEPITSEYIEVPLQEKRSWEQTYEEEIFLSSELQEEVPTLSRKDHFPETTKKEVQKDKPCEPKSQKIEGKSWSGEFFTCNWKMKYVTFEDEEQANLIYGNSRFTAKLHIQFPKPHPGHEVRLSSKQFQNYIELVVSELRGNEDQVLESVVEFLMNALERSHIESLRNSARRKWLHQIQCAAETSGVSLEPVYSETFKALMQDAEAHGNKKISAHISLLEENLLLPEKGNVLLRNVACTLDDAQFVLNRVLYRDMKGISFTVVDEGKPIHVPQVQYHGNIFFWNQSRNKHDYNGSFLALPLQDAYMRIFGVLAVDTLRDPHEINIFLPHEIRFYQGVANVFSTAYHYVHSREHILHIVITGIGWLYDVTSSITSITTYFVEPSPAQDSDYVLRNMMVTGQLGLTEIHKNPPTIHRKSCIFRDFLFKCTDSSEVVLASACGETHIVVPLRERTGEALGVLDFNIGQNRMLLCQEYKDLQKMMKVVQVACYEILGEFSGEIKKKYILEIENVREVQRAGILFFRIMLLELQESIQLLNSMEFVSLLLYDHTLVTEPNSPQDSKSMELEANVKLVRDILKAVILFFHPELEFSSDFGSWDKCKFYVNKYLVNNICAFDPTAKHVEVNVQLIDEYIRDHSRTEVWKFGNVVIEHLYHWIHICSALMKITKQLNSGITPPLPSKTDNYMYAKMPGEGLQEK" } } ], "pathway": [ { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:374786", "resource": "KEGG Pathway", "id": "hsa:374786", "name": "" } ], "function": [], "orthologs": [], "interactions": [], "synthesized_glycans": [], "refseq": {}, "go_annotation": { "categories": [ { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A4FU69", "id": "A4FU69", "database": "UniProtKB" } ], "name": "calcium ion binding", "id": "GO:0005509" } ], "total": 1, "name": "Molecular Function" } ] }, "gene_names": [ { "type": "recommended", "resource": "uniprotkb", "name": "EFCAB5" } ], "crossref": [ { "url": "https://www.ebi.ac.uk/interpro/entry/IPR002048", "id": "IPR002048", "database": "InterPro" }, { "url": "http://www.orthodb.org/?query=1482025at2759", "id": "1482025at2759", "database": "OrthoDB" }, { "url": "http://research.bioinformatics.udel.edu/pro/entry/PR_A4FU69", "id": "PR_A4FU69", "database": "PRO" }, { "url": "https://omabrowser.org/oma/group/LKHLCHC/", "id": "LKHLCHC", "database": "OMA" }, { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000176927", "id": "ENSG00000176927", "database": "Bgee" }, { "url": "https://www.ebi.ac.uk/intact/interactors/id:A4FU69*", "id": "A4FU69", "database": "IntAct" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138525.1", "id": "NP_001138525.1", "database": "RefSeq" }, { "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=24801", "id": "24801", "database": "HGNC" }, { "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=EFCAB5", "id": "EFCAB5", "database": "GeneCards" }, { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A4FU69", "id": "A4FU69", "database": "BioMuta" }, { "url": "https://pharos.nih.gov/targets/A4FU69", "id": "A4FU69", "database": "PHAROS" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR029016", "id": "IPR029016", "database": "InterPro" }, { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:374786", "id": "hsa:374786", "database": "KEGG Pathway" }, { "url": "https://www.ncbi.nlm.nih.gov/gene/374786", "id": "374786", "database": "GeneID" }, { "url": "https://www.nextprot.org/entry/NX_A4FU69", "id": "NX_A4FU69", "database": "neXtProt" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR018247", "id": "IPR018247", "database": "InterPro" } ], "expression_disease": [ { "name": "Liver cancer [DO disease name]", "trend": "Up", "disease": { "doid": "3571", "url": "http://disease-ontology.org/term/DOID:3571", "icd10": "", "name": "Liver cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A4FU69", "id": "A4FU69", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:3571", "significant": "No" }, { "name": "Prostate cancer [DO disease name]", "trend": "Up", "disease": { "doid": "10283", "url": "http://disease-ontology.org/term/DOID:10283", "icd10": "", "name": "Prostate cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A4FU69", "id": "A4FU69", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:10283", "significant": "No" }, { "name": "Esophageal cancer [DO disease name]", "trend": "Down", "disease": { "doid": "5041", "url": "http://disease-ontology.org/term/DOID:5041", "icd10": "", "name": "Esophageal cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A4FU69", "id": "A4FU69", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:5041", "significant": "No" }, { "name": "Lung squamous cell carcinoma [DO disease name]", "trend": "Down", "disease": { "doid": "3907", "url": "http://disease-ontology.org/term/DOID:3907", "icd10": "", "name": "Lung squamous cell carcinoma" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A4FU69", "id": "A4FU69", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:3907", "significant": "Yes" }, { "name": "Thyroid gland cancer [DO disease name]", "trend": "Down", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid gland cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A4FU69", "id": "A4FU69", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:1781", "significant": "Yes" }, { "name": "Lung adenocarcinoma [DO disease name]", "trend": "Up", "disease": { "doid": "3910", "url": "http://disease-ontology.org/term/DOID:3910", "icd10": "", "name": "Lung adenocarcinoma" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A4FU69", "id": "A4FU69", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:3910", "significant": "No" }, { "name": "Urinary bladder cancer [DO disease name]", "trend": "Down", "disease": { "doid": "11054", "url": "http://disease-ontology.org/term/DOID:11054", "icd10": "", "name": "Urinary bladder cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A4FU69", "id": "A4FU69", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:11054", "significant": "No" } ], "glycosylation": [], "disease": [], "phosphorylation": [ { "residue": "Ser", "position": "77", "kinase_uniprot_canonical_ac": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A4FU69", "id": "A4FU69", "database": "UniProtKB" } ] }, { "residue": "Ser", "position": "77", "kinase_uniprot_canonical_ac": "Q6P1J9-1", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/18669648", "id": "18669648", "database": "PubMed" } ] } ], "mass": { "monoisotopic_mass": 173404.0, "chemical_mass": 173404.0 }, "expression_tissue": [ { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001161", "uberon": "0001161", "name": "Body of stomach" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000176927", "id": "ENSG00000176927", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001255", "uberon": "0001255", "name": "Urinary bladder" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000176927", "id": "ENSG00000176927", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001043", "uberon": "0001043", "name": "Esophagus" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000176927", "id": "ENSG00000176927", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000178", "uberon": "0000178", "name": "Blood" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000176927", "id": "ENSG00000176927", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000178", "uberon": "0000178", "name": "Blood" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000176927", "id": "ENSG00000176927", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000955", "uberon": "0000955", "name": "Brain" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000176927", "id": "ENSG00000176927", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000458", "uberon": "0000458", "name": "Endocervix" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000176927", "id": "ENSG00000176927", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000458", "uberon": "0000458", "name": "Endocervix" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000176927", "id": "ENSG00000176927", "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=ENSG00000176927", "id": "ENSG00000176927", "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=ENSG00000176927", "id": "ENSG00000176927", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001150", "uberon": "0001150", "name": "Body of pancreas" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000176927", "id": "ENSG00000176927", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002046", "uberon": "0002046", "name": "Thyroid gland" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000176927", "id": "ENSG00000176927", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000992", "uberon": "0000992", "name": "Ovary" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000176927", "id": "ENSG00000176927", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000948", "uberon": "0000948", "name": "Heart" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000176927", "id": "ENSG00000176927", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001160", "uberon": "0001160", "name": "Fundus of stomach" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000176927", "id": "ENSG00000176927", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002046", "uberon": "0002046", "name": "Thyroid gland" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000176927", "id": "ENSG00000176927", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000007", "uberon": "0000007", "name": "Pituitary gland" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000176927", "id": "ENSG00000176927", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0009853", "uberon": "0009853", "name": "Body of uterus" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000176927", "id": "ENSG00000176927", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002369", "uberon": "0002369", "name": "Adrenal gland" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000176927", "id": "ENSG00000176927", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001155", "uberon": "0001155", "name": "Colon" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000176927", "id": "ENSG00000176927", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000473", "uberon": "0000473", "name": "Testis" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000176927", "id": "ENSG00000176927", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002107", "uberon": "0002107", "name": "Liver" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000176927", "id": "ENSG00000176927", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002048", "uberon": "0002048", "name": "Lung" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000176927", "id": "ENSG00000176927", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000996", "uberon": "0000996", "name": "Vagina" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000176927", "id": "ENSG00000176927", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000007", "uberon": "0000007", "name": "Pituitary gland" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000176927", "id": "ENSG00000176927", "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=ENSG00000176927", "id": "ENSG00000176927", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001987", "uberon": "0001987", "name": "Placenta" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000176927", "id": "ENSG00000176927", "database": "Bgee" } ] } ], "gene": [ { "url": "https://www.uniprot.org/uniprot/A4FU69", "name": "EFCAB5", "locus": { "end_pos": 30108452, "start_pos": 29929200, "chromosome": "17", "evidence": [ { "url": "https://www.ensembl.org/id/ENSG00000176927", "id": "ENSG00000176927", "database": "Ensembl Gene" } ] } } ], "protein_names": [ { "type": "synonym", "resource": "refseq", "name": "EF-hand calcium-binding domain-containing protein 5" }, { "type": "recommended", "resource": "uniprotkb", "name": "EF-hand calcium-binding domain-containing protein 5" }, { "type": "synonym", "resource": "refseq", "name": "EF-hand calcium-binding domain-containing protein 5 isoform b" } ] }