{
    "uniprot_canonical_ac": "A2IDD5-1", 
    "sequence": {
        "length": 438, 
        "sequence": "MEHAATTGPRPGPPSRRVENVVLRAKDWLPGAPGGTAVWATSLEAEVPPDLALNKEQQLQISKELVDIQITTHHLHEQHEAEIFQLKSEILRLESRVLELELRGDGTSQGCAVPVESDPRHPRAAAQELRHKAQVPGHSDDHRFQVQPKNTMNPENEQHRLGSGLQGEVKWALEHQEARQQALVTRVATLGRQLQGAREEARAAGQRLATQAVVLCSCQGQLRQAEAENARLQLQLKKLKDEYVLRLQHCAWQAVEHADGAGQAPATTALRTFLEATLEDIRAAHRSREQQLARAARSYHKRLVDLSRRHEELLVAYRAPGNPQAIFDIASLDLEPLPVPLVTDFSHREDQHGGPGALLSSPKKRPGGASQGGTSEPQGLDAASWAQIHQKLRDFSRSTQSWNGSGHSCWSGPRWLKSNFLSYRSTWTSTWAGTSTKS"
    }, 
    "uniprot_id": "CCD78_HUMAN", 
    "enzyme_annotation": [], 
    "alternativenames": [
        {
            "full": "hsCCDC78", 
            "short": ""
        }
    ], 
    "keywords": [], 
    "species": [
        {
            "evidence": [
                {
                    "url": "https://www.uniprot.org/uniprot/A2IDD5", 
                    "id": "A2IDD5", 
                    "database": "UniProtKB"
                }
            ], 
            "name": "Homo sapiens", 
            "taxid": 9606
        }
    ], 
    "recommendedname": {
        "full": "Coiled-coil domain-containing protein 78"
    }, 
    "publication": [
        {
            "title": "Deuterosome-mediated centriole biogenesis.", 
            "url": "https://www.ncbi.nlm.nih.gov/pubmed/24075808", 
            "journal": "Dev. Cell", 
            "evidence": [
                {
                    "url": "https://www.uniprot.org/uniprot/A2IDD5/publications", 
                    "id": "A2IDD5", 
                    "database": "UniProtKB"
                }
            ], 
            "authors": "Hwang P., Klos Dehring D.A., Mitchell B.J., Mitchell J.W., Vladar E.K., Werner M.E.", 
            "date": "2013", 
            "pmid": "24075808"
        }, 
        {
            "title": "Dominant mutation of CCDC78 in a unique congenital myopathy with prominent internal nuclei and atypical cores.", 
            "url": "https://www.ncbi.nlm.nih.gov/pubmed/22818856", 
            "journal": "American journal of human genetics", 
            "evidence": [
                {
                    "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001026907.2", 
                    "id": "NP_001026907.2", 
                    "database": "RefSeq"
                }, 
                {
                    "url": "https://www.uniprot.org/uniprot/A2IDD5/publications", 
                    "id": "A2IDD5", 
                    "database": "UniProtKB"
                }
            ], 
            "authors": "Majczenko K, Davidson AE, Camelo-Piragua S, Agrawal PB, Manfready RA, Li X, Joshi S, Xu J, Peng W, Beggs AH, Li JZ, Burmeister M, Dowling JJ", 
            "date": "2012", 
            "pmid": "22818856"
        }, 
        {
            "title": "New genetic associations detected in a host response study to hepatitis B vaccine.", 
            "url": "https://www.ncbi.nlm.nih.gov/pubmed/20237496", 
            "journal": "Genes and immunity", 
            "evidence": [
                {
                    "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001026907.2", 
                    "id": "NP_001026907.2", 
                    "database": "RefSeq"
                }
            ], 
            "authors": "Davila S, Froeling FE, Tan A, Bonnard C, Boland GJ, Snippe H, Hibberd ML, Seielstad M", 
            "date": "2010", 
            "pmid": "20237496"
        }
    ], 
    "glycosylation": [], 
    "mutation": [
        {
            "start_pos": 394, 
            "subjects_positive": "1", 
            "evidence": [
                {
                    "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2IDD5", 
                    "id": "A2IDD5", 
                    "database": "BioMuta"
                }
            ], 
            "frequency": "0.0263", 
            "annotation": "Somatic mutation in Lung cancer (DOID:1324) with frequency of 1/38 (0.0263)", 
            "sequence_org": "D", 
            "disease": {
                "doid": "1324", 
                "url": "http://disease-ontology.org/term/DOID:1324", 
                "icd10": "", 
                "name": "Lung cancer"
            }, 
            "sequence_mut": "E", 
            "subjects_tested": "38", 
            "end_pos": 394, 
            "type": "Point mutation"
        }, 
        {
            "start_pos": 348, 
            "subjects_positive": "1", 
            "evidence": [
                {
                    "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2IDD5", 
                    "id": "A2IDD5", 
                    "database": "BioMuta"
                }
            ], 
            "frequency": "0.0200", 
            "annotation": "Somatic mutation in Thyroid cancer (DOID:1781) with frequency of 1/50 (0.0200)", 
            "sequence_org": "R", 
            "disease": {
                "doid": "1781", 
                "url": "http://disease-ontology.org/term/DOID:1781", 
                "icd10": "", 
                "name": "Thyroid cancer"
            }, 
            "sequence_mut": "L", 
            "subjects_tested": "50", 
            "end_pos": 348, 
            "type": "Point mutation"
        }, 
        {
            "start_pos": 257, 
            "subjects_positive": "1", 
            "evidence": [
                {
                    "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2IDD5", 
                    "id": "A2IDD5", 
                    "database": "BioMuta"
                }
            ], 
            "frequency": "0.0106", 
            "annotation": "Somatic mutation in Colorectal cancer (DOID:9256) with frequency of 1/94 (0.0106)", 
            "sequence_org": "H", 
            "disease": {
                "doid": "9256", 
                "url": "http://disease-ontology.org/term/DOID:9256", 
                "icd10": "", 
                "name": "Colorectal cancer"
            }, 
            "sequence_mut": "Q", 
            "subjects_tested": "94", 
            "end_pos": 257, 
            "type": "Point mutation"
        }, 
        {
            "start_pos": 172, 
            "subjects_positive": "1", 
            "evidence": [
                {
                    "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2IDD5", 
                    "id": "A2IDD5", 
                    "database": "BioMuta"
                }
            ], 
            "frequency": "0.0106", 
            "annotation": "Somatic mutation in Colorectal cancer (DOID:9256) with frequency of 1/94 (0.0106)", 
            "sequence_org": "A", 
            "disease": {
                "doid": "9256", 
                "url": "http://disease-ontology.org/term/DOID:9256", 
                "icd10": "", 
                "name": "Colorectal cancer"
            }, 
            "sequence_mut": "V", 
            "subjects_tested": "94", 
            "end_pos": 172, 
            "type": "Point mutation"
        }, 
        {
            "start_pos": 111, 
            "subjects_positive": "1", 
            "evidence": [
                {
                    "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2IDD5", 
                    "id": "A2IDD5", 
                    "database": "BioMuta"
                }
            ], 
            "frequency": "0.0200", 
            "annotation": "Somatic mutation in Thyroid cancer (DOID:1781) with frequency of 1/50 (0.0200)", 
            "sequence_org": "C", 
            "disease": {
                "doid": "1781", 
                "url": "http://disease-ontology.org/term/DOID:1781", 
                "icd10": "", 
                "name": "Thyroid cancer"
            }, 
            "sequence_mut": "Y", 
            "subjects_tested": "50", 
            "end_pos": 111, 
            "type": "Point mutation"
        }, 
        {
            "start_pos": 53, 
            "subjects_positive": "1", 
            "evidence": [
                {
                    "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2IDD5", 
                    "id": "A2IDD5", 
                    "database": "BioMuta"
                }
            ], 
            "frequency": "0.0106", 
            "annotation": "Somatic mutation in Colorectal cancer (DOID:9256) with frequency of 1/94 (0.0106)", 
            "sequence_org": "L", 
            "disease": {
                "doid": "9256", 
                "url": "http://disease-ontology.org/term/DOID:9256", 
                "icd10": "", 
                "name": "Colorectal cancer"
            }, 
            "sequence_mut": "F", 
            "subjects_tested": "94", 
            "end_pos": 53, 
            "type": "Point mutation"
        }, 
        {
            "start_pos": 49, 
            "subjects_positive": "1", 
            "evidence": [
                {
                    "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2IDD5", 
                    "id": "A2IDD5", 
                    "database": "BioMuta"
                }
            ], 
            "frequency": "0.0200", 
            "annotation": "Somatic mutation in Thyroid cancer (DOID:1781) with frequency of 1/50 (0.0200)", 
            "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": 49, 
            "type": "Point mutation"
        }, 
        {
            "start_pos": 28, 
            "subjects_positive": "1", 
            "evidence": [
                {
                    "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2IDD5", 
                    "id": "A2IDD5", 
                    "database": "BioMuta"
                }
            ], 
            "frequency": "0.0200", 
            "annotation": "Somatic mutation in Thyroid cancer (DOID:1781) with frequency of 1/50 (0.0200)", 
            "sequence_org": "W", 
            "disease": {
                "doid": "1781", 
                "url": "http://disease-ontology.org/term/DOID:1781", 
                "icd10": "", 
                "name": "Thyroid cancer"
            }, 
            "sequence_mut": "C", 
            "subjects_tested": "50", 
            "end_pos": 28, 
            "type": "Point mutation"
        }, 
        {
            "start_pos": 18, 
            "subjects_positive": "7", 
            "evidence": [
                {
                    "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2IDD5", 
                    "id": "A2IDD5", 
                    "database": "BioMuta"
                }
            ], 
            "frequency": "0.1400", 
            "annotation": "Somatic mutation in Thyroid cancer (DOID:1781) with frequency of 7/50 (0.1400)", 
            "sequence_org": "V", 
            "disease": {
                "doid": "1781", 
                "url": "http://disease-ontology.org/term/DOID:1781", 
                "icd10": "", 
                "name": "Thyroid cancer"
            }, 
            "sequence_mut": "G", 
            "subjects_tested": "50", 
            "end_pos": 18, 
            "type": "Point mutation"
        }
    ], 
    "isoforms": [
        {
            "url": "https://www.uniprot.org/uniprot/A2IDD5#A2IDD5-1", 
            "isoform_ac": "A2IDD5-1", 
            "locus": {
                "end_pos": 722773, 
                "start_pos": 726367, 
                "chromosome": "16", 
                "evidence": [
                    {
                        "url": "https://www.ensembl.org/id/ENST00000293889", 
                        "id": "ENST00000293889", 
                        "database": "Ensembl Transcript"
                    }, 
                    {
                        "url": "https://www.ensembl.org/id/ENSP00000293889", 
                        "id": "ENSP00000293889", 
                        "database": "Ensembl Peptide"
                    }
                ]
            }, 
            "sequence": {
                "length": 438, 
                "sequence": "MEHAATTGPRPGPPSRRVENVVLRAKDWLPGAPGGTAVWATSLEAEVPPDLALNKEQQLQISKELVDIQITTHHLHEQHEAEIFQLKSEILRLESRVLELELRGDGTSQGCAVPVESDPRHPRAAAQELRHKAQVPGHSDDHRFQVQPKNTMNPENEQHRLGSGLQGEVKWALEHQEARQQALVTRVATLGRQLQGAREEARAAGQRLATQAVVLCSCQGQLRQAEAENARLQLQLKKLKDEYVLRLQHCAWQAVEHADGAGQAPATTALRTFLEATLEDIRAAHRSREQQLARAARSYHKRLVDLSRRHEELLVAYRAPGNPQAIFDIASLDLEPLPVPLVTDFSHREDQHGGPGALLSSPKKRPGGASQGGTSEPQGLDAASWAQIHQKLRDFSRSTQSWNGSGHSCWSGPRWLKSNFLSYRSTWTSTWAGTSTKS"
            }
        }, 
        {
            "url": "https://www.uniprot.org/uniprot/A2IDD5#I3L158-1", 
            "isoform_ac": "I3L158-1", 
            "locus": {
                "end_pos": 724929, 
                "start_pos": 725275, 
                "chromosome": "16", 
                "evidence": [
                    {
                        "url": "https://www.ensembl.org/id/ENST00000423653", 
                        "id": "ENST00000423653", 
                        "database": "Ensembl Transcript"
                    }, 
                    {
                        "url": "https://www.ensembl.org/id/ENSP00000458590", 
                        "id": "ENSP00000458590", 
                        "database": "Ensembl Peptide"
                    }
                ]
            }, 
            "sequence": {
                "length": 56, 
                "sequence": "MNPENEQHRLGSGLQGEVKWALEHQEARQQALVTRVATLGRQLQGAREEARAAGQR"
            }
        }, 
        {
            "url": "https://www.uniprot.org/uniprot/A2IDD5#A2IDD5-2", 
            "isoform_ac": "A2IDD5-2", 
            "locus": {
                "end_pos": 0, 
                "start_pos": 0, 
                "chromosome": "", 
                "evidence": []
            }, 
            "sequence": {
                "length": 187, 
                "sequence": "MEHAATTGPRPGPPSRRVENVVLRAKDWLPGAPGGTAVWATSLEAEVPPDLALNKEQQLQISKELVDIQITTHHLHEQHEAEIFQLKSEILRLESRVLELELRGDGTSQGCAVPVESDPRHPRAAAQELRHKAQVPGHSDDHRFQVQPKNTMNPENEQHRLGSGLQGEVKWALEHQEARQQALVTRV"
            }
        }, 
        {
            "url": "https://www.uniprot.org/uniprot/A2IDD5#H3BLT8-1", 
            "isoform_ac": "H3BLT8-1", 
            "locus": {
                "end_pos": 722681, 
                "start_pos": 726367, 
                "chromosome": "16", 
                "evidence": [
                    {
                        "url": "https://www.ensembl.org/id/ENST00000345165", 
                        "id": "ENST00000345165", 
                        "database": "Ensembl Transcript"
                    }, 
                    {
                        "url": "https://www.ensembl.org/id/ENSP00000316851", 
                        "id": "ENSP00000316851", 
                        "database": "Ensembl Peptide"
                    }
                ]
            }, 
            "sequence": {
                "length": 470, 
                "sequence": "MEHAATTGPRPGPPSRRVENVVLRAKDWLPGAPGGTAVWATSLEAEVPPDLALNKEQQLQISKELVDIQITTHHLHEQHEAEIFQLKSEILRLESRVLELELRGDGTSQGCAVPVESDPRHPRAAAQELRHKAQVPGHSDDHRFQVQPKNTMNPENEQHRLGSGLQGEVKWALEHQEARQQALVTRVATLGRQLQGAREEARAAGQRLATQAVVLCSCQGQLRQAEAENARLQLQLKKLKDEYVLRLQHCAWQAVEHADGAGQAPATTALRTFLEATLEDIRAAHRSREQQLARAARSYHKRLVDLSRRHEELLVAYRAPGNPQAIFDIASLDLEPLPVPLVTDFSHREDQHGGPGALLSSPKKRPGGASQGGTSEPQGLDAASWAQIHQKLRDFSRSTQAELERERAQLLVRATMAEEQLSELQEYVDQHLGRYKHEILRLRKLAGAGDPWKVGAVPPAKPQHPRTGSH"
            }
        }, 
        {
            "url": "https://www.uniprot.org/uniprot/A2IDD5#A2IDD5-3", 
            "isoform_ac": "A2IDD5-3", 
            "locus": {
                "end_pos": 0, 
                "start_pos": 0, 
                "chromosome": "", 
                "evidence": []
            }, 
            "sequence": {
                "length": 273, 
                "sequence": "MEHAATTGPRPGPPSRRVENVVLRAKDWLPGAPGGTAVWATSLEAEVPPDLALNKEQQLQISKELVDIQITTHHLHEQHEAEIFQLKSEILRLESRVLELELRGDGTSQGCAVPVESDPRHPRAAAQELRHKAQVPGHSDDHRFQVQPKNTMNPENEQHRLGSGVSVQPPSSGERAAPETPSLGSHPASPVCPTAAGGSEVGAGASGGPAAGTGDACVSGHLTWGPILEQREPLIVGLLSLTPVSSGQPWAGSCREPERRPGQPGSDWPHRLW"
            }
        }, 
        {
            "url": "https://www.uniprot.org/uniprot/A2IDD5#A0A494C131-1", 
            "isoform_ac": "A0A494C131-1", 
            "locus": {
                "end_pos": 725794, 
                "start_pos": 726367, 
                "chromosome": "16", 
                "evidence": [
                    {
                        "url": "https://www.ensembl.org/id/ENST00000650995", 
                        "id": "ENST00000650995", 
                        "database": "Ensembl Transcript"
                    }, 
                    {
                        "url": "https://www.ensembl.org/id/ENSP00000498860", 
                        "id": "ENSP00000498860", 
                        "database": "Ensembl Peptide"
                    }
                ]
            }, 
            "sequence": {
                "length": 163, 
                "sequence": "MEHAATTGPRPGPPSRRVENVSPLGLAAPAMGLKSARSPKGQEGAGSCTLGLISARRGTFTAQPGREAGLVTAWEWGHSPAWDPPGEWVAVPPQVVLRAKDWLPGAPGGTAVWATSLEAEVPPDLALNKEQQLQISKELVDIQITTHHLHEQHEAEIFQLKSE"
            }
        }, 
        {
            "url": "https://www.uniprot.org/uniprot/A2IDD5#A2IDD5-4", 
            "isoform_ac": "A2IDD5-4", 
            "locus": {
                "end_pos": 0, 
                "start_pos": 0, 
                "chromosome": "", 
                "evidence": []
            }, 
            "sequence": {
                "length": 257, 
                "sequence": "MEHAATTGPRPGPPSRRVENVVLRAKDWLPGAPGGTAVWATSLEAEVPPDLALNKEQQLQISKELVDIQITTHHLHEQHEAEIFQLKSEILRLESRVLELELRGDGTSQGCAVPVESDPRHPRAAAQELRHKAQVPGHSDDHRFQVQPKNTMNPENEQHRLGSGVSVQPPSSGERAAPETPSLGSHPASPVCPTAAGGSEVGAGASGGPAAGTGDACGNPGPAAAGSPRGGQGSRAATGHTGCGAVQLPRPAPSGRG"
            }
        }, 
        {
            "url": "https://www.uniprot.org/uniprot/A2IDD5#A2IDD5-5", 
            "isoform_ac": "A2IDD5-5", 
            "locus": {
                "end_pos": 0, 
                "start_pos": 0, 
                "chromosome": "", 
                "evidence": []
            }, 
            "sequence": {
                "length": 347, 
                "sequence": "MEHAATTGPRPGPPSRRVENVSPLGLAAPAMGLKSARSPKGQEGAGSCTLGLISARRGTFTAQPGREAGLVTAWEWGHSPAWDPPGEWVAVPPQVVLRAKDWLPGAPGGTAVWATSLEAEVPPDLALNKEQQLQISKELVDIQITTHHLHEQHEAEIFQLKSEILRLESRVLELELRGDGTSQGCAVPVESDPRHPRAAAQELRHKAQVPGHSDDHRFQVQPKNTMNPENEQHRLGSGVSVQPPSSGERAAPETPSLGSHPASPVCPTAAGGSEVGAGASGGPAAGTGDACVSGHLTWGPILEQREPLIVGLLSLTPVSSGQPWAGSCREPERRPGQPGSDWPHRLW"
            }
        }, 
        {
            "url": "https://www.uniprot.org/uniprot/A2IDD5#A2IDD5-6", 
            "isoform_ac": "A2IDD5-6", 
            "locus": {
                "end_pos": 0, 
                "start_pos": 0, 
                "chromosome": "", 
                "evidence": []
            }, 
            "sequence": {
                "length": 262, 
                "sequence": "MEHAATTGPRPGPPSRRVENVVLRAKDWLPGAPGGTAVWATSLEAEVPPDLALNKEQQLQISKELVDIQITTHHLHEQHEAEIFQLKSEILRLESRVLELELRGDGTSQGCAVPVESDPRHPRAAAQELRHKAQVQPKNTMNPENEQHRLGSGVSVQPPSSGERAAPETPSLGSHPASPVCPTAAGGSEVGAGASGGPAAGTGDACVSGHLTWGPILEQREPLIVGLLSLTPVSSGQPWAGSCREPERRPGQPGSDWPHRLW"
            }
        }
    ], 
    "pathway": [
        {
            "url": "https://www.genome.jp/dbget-bin/www_bget?hsa:124093", 
            "resource": "KEGG Pathway", 
            "id": "hsa:124093", 
            "name": ""
        }
    ], 
    "function": [
        {
            "url": "https://www.uniprot.org/uniprot/A2IDD5#function", 
            "annotation": "Component of the deuterosome, a structure that promotes de novo centriole amplification in multiciliated cells that can generate more than 100 centrioles. Deuterosome-mediated centriole amplification occurs in terminally differentiated multiciliated cells (G1/0) and not in S phase. Essential for centriole amplification and is required for CEP152 localization to the deuterosome.", 
            "evidence": [
                {
                    "url": "https://www.uniprot.org/uniprot/A2IDD5#function", 
                    "id": "A2IDD5", 
                    "database": "UniProtKB"
                }
            ]
        }, 
        {
            "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001026907.2", 
            "annotation": "Dominant mutation of CCDC78 in a unique congenital myopathy with prominent internal nuclei and atypical cores.", 
            "evidence": [
                {
                    "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001026907.2", 
                    "id": "NP_001026907.2", 
                    "database": "RefSeq"
                }
            ]
        }, 
        {
            "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001026907.2", 
            "annotation": "Observational study of gene-disease association. (HuGE Navigator)", 
            "evidence": [
                {
                    "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001026907.2", 
                    "id": "NP_001026907.2", 
                    "database": "RefSeq"
                }
            ]
        }
    ], 
    "orthologs": [
        {
            "uniprot_canonical_ac": "F7ELZ7-1", 
            "protein_name": "", 
            "sequence": {
                "length": 425, 
                "sequence": "DSIASMEYRAAPDPRPWASLQVAENVVPGAEDWLPRVSGNPARATSLETEPQTHLELSEEQRLQISKELVDLQIATHHLREQHEAEVFELRREVLRLESRVLELEMHGTGACQGQTVQPAANPGQYQVSPQEPSGGQQRLQEELKWVLEHHRVRQQALETQVGALSRQLQGAREEARTAGQQLAAQAMVLSSCKDQLRQAEAENAQLQLQLKKLNEEYAVRLQRYAKETAETSSSTNQASLQAFLEAALQDIRAAHRSREQQLAQAARAYRKRLADLNQRQELLLTTCRATFATAINLEPSPLHWAAELSHPRENEYGPHRTTLLLYPEKGSGEASKEDKSQPLALDTASWVQIQQKLQDFSQDTQAELERERAQLMVRATMAEQQLSELQEYVDQHLGRYKQEILKLRKLANSGDSQGVESMPS"
            }, 
            "evidence": [
                {
                    "url": "https://omabrowser.org/oma/group/A2IDD5/", 
                    "id": "A2IDD5", 
                    "database": "OMA"
                }
            ], 
            "organism": "Rattus norvegicus", 
            "tax_id": 10116
        }, 
        {
            "uniprot_canonical_ac": "D3Z5T1-1", 
            "protein_name": "Coiled-coil domain-containing protein 78", 
            "sequence": {
                "length": 437, 
                "sequence": "MDQRPELLSSMEYVASPDPKPGVPLRVAENVAPGAEDWLPSASGHLAWATSLETEHQTHLELSEEQRLQISKELVDLQIATHHLREQHEAEVFELRREILRLESRVLELELHGNGACQGHKVQPMANLGQHQVPPLEPPGGQQKLQEELKWLLEHHRARQQALETQVGVLSQQLQGAREEARTTGQQLASQAMVLASCKGQLRQAEAENTQLQLQLKKMNEEYAVRLQHYARETVENASSTNQAALQAFLESTLQDIRAAHRTREQQLAQAARTYRKRLADLNQRQELLLTTCRATFATAINLEPLPMHWATELSHPRENEYGRHRTLLLYPEKGSGETSKENKSQPLALDTASWAQIQQRLQDFSQDTQAELERERAQLMVRATMAEQQLSELQEYVDQHLGRYKQEILKLRKLVNIGDPQGVEAVSSPGSGGARL"
            }, 
            "evidence": [
                {
                    "url": "http://www.informatics.jax.org/homology/105408", 
                    "id": "105408", 
                    "database": "MGI"
                }, 
                {
                    "url": "https://omabrowser.org/oma/group/A2IDD5/", 
                    "id": "A2IDD5", 
                    "database": "OMA"
                }
            ], 
            "organism": "Mus musculus", 
            "tax_id": 10090
        }
    ], 
    "refseq": {
        "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001026907.2", 
        "ac": "NP_001026907.2", 
        "name": "coiled-coil domain-containing protein 78", 
        "summary": "The product of this gene contains two coiled-coil domains. The function of this gene is currently unknown. [provided by RefSeq, Sep 2012]."
    }, 
    "go_annotation": {
        "categories": [
            {
                "go_terms": [
                    {
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", 
                        "evidence": [
                            {
                                "url": "https://www.uniprot.org/uniprot/A2IDD5", 
                                "id": "A2IDD5", 
                                "database": "UniProtKB"
                            }
                        ], 
                        "name": "perinuclear region of cytoplasm", 
                        "id": "GO:0048471"
                    }, 
                    {
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042383", 
                        "evidence": [
                            {
                                "url": "https://www.uniprot.org/uniprot/A2IDD5", 
                                "id": "A2IDD5", 
                                "database": "UniProtKB"
                            }
                        ], 
                        "name": "sarcolemma", 
                        "id": "GO:0042383"
                    }, 
                    {
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005814", 
                        "evidence": [
                            {
                                "url": "https://www.uniprot.org/uniprot/A2IDD5", 
                                "id": "A2IDD5", 
                                "database": "UniProtKB"
                            }
                        ], 
                        "name": "centriole", 
                        "id": "GO:0005814"
                    }, 
                    {
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016529", 
                        "evidence": [
                            {
                                "url": "https://www.uniprot.org/uniprot/A2IDD5", 
                                "id": "A2IDD5", 
                                "database": "UniProtKB"
                            }
                        ], 
                        "name": "sarcoplasmic reticulum", 
                        "id": "GO:0016529"
                    }, 
                    {
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098536", 
                        "evidence": [
                            {
                                "url": "https://www.uniprot.org/uniprot/A2IDD5", 
                                "id": "A2IDD5", 
                                "database": "UniProtKB"
                            }
                        ], 
                        "name": "deuterosome", 
                        "id": "GO:0098536"
                    }
                ], 
                "total": 5, 
                "name": "Cellular Component"
            }, 
            {
                "go_terms": [
                    {
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003009", 
                        "evidence": [
                            {
                                "url": "https://www.uniprot.org/uniprot/A2IDD5", 
                                "id": "A2IDD5", 
                                "database": "UniProtKB"
                            }
                        ], 
                        "name": "skeletal muscle contraction", 
                        "id": "GO:0003009"
                    }, 
                    {
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030030", 
                        "evidence": [
                            {
                                "url": "https://www.uniprot.org/uniprot/A2IDD5", 
                                "id": "A2IDD5", 
                                "database": "UniProtKB"
                            }
                        ], 
                        "name": "cell projection organization", 
                        "id": "GO:0030030"
                    }, 
                    {
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098535", 
                        "evidence": [
                            {
                                "url": "https://www.uniprot.org/uniprot/A2IDD5", 
                                "id": "A2IDD5", 
                                "database": "UniProtKB"
                            }
                        ], 
                        "name": "de novo centriole assembly involved in multi-ciliated epithelial cell differentiation", 
                        "id": "GO:0098535"
                    }
                ], 
                "total": 3, 
                "name": "Biological Process"
            }
        ]
    }, 
    "site_annotation": [
        {
            "end_pos": 405, 
            "annotation": "n_glycosylation_sequon", 
            "start_pos": 403
        }
    ], 
    "crossref": [
        {
            "url": "https://www.genome.jp/dbget-bin/www_bget?hsa:124093", 
            "id": "hsa:124093", 
            "database": "KEGG Pathway"
        }, 
        {
            "url": "https://bgee.org/?page=gene&gene_id=ENSG00000162004", 
            "id": "ENSG00000162004", 
            "database": "Bgee"
        }, 
        {
            "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=14153", 
            "id": "14153", 
            "database": "HGNC"
        }, 
        {
            "url": "https://omabrowser.org/oma/group/GHSDDCR/", 
            "id": "GHSDDCR", 
            "database": "OMA"
        }, 
        {
            "url": "https://www.ebi.ac.uk/interpro/entry/IPR029329", 
            "id": "IPR029329", 
            "database": "InterPro"
        }, 
        {
            "url": "https://www.ebi.ac.uk/interpro/entry/IPR039873", 
            "id": "IPR039873", 
            "database": "InterPro"
        }, 
        {
            "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC78", 
            "id": "CCDC78", 
            "database": "GeneCards"
        }, 
        {
            "url": "https://www.ncbi.nlm.nih.gov/gene/124093", 
            "id": "124093", 
            "database": "GeneID"
        }, 
        {
            "url": "http://pfam.xfam.org/family/PF14739", 
            "id": "PF14739", 
            "database": "Pfam"
        }, 
        {
            "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR22106", 
            "id": "PTHR22106", 
            "database": "PANTHER"
        }, 
        {
            "url": "http://research.bioinformatics.udel.edu/pro/entry/PR_A2IDD5", 
            "id": "PR_A2IDD5", 
            "database": "PRO"
        }, 
        {
            "url": "https://www.nextprot.org/entry/NX_A2IDD5", 
            "id": "NX_A2IDD5", 
            "database": "neXtProt"
        }, 
        {
            "url": "https://www.ebi.ac.uk/intact/interactors/id:A2IDD5*", 
            "id": "A2IDD5", 
            "database": "IntAct"
        }
    ], 
    "expression_disease": [
        {
            "trend": "Up", 
            "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/A2IDD5", 
                    "id": "A2IDD5", 
                    "database": "BioXpress"
                }
            ]
        }, 
        {
            "trend": "Up", 
            "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/A2IDD5", 
                    "id": "A2IDD5", 
                    "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/A2IDD5", 
                    "id": "A2IDD5", 
                    "database": "BioXpress"
                }
            ]
        }, 
        {
            "trend": "Up", 
            "disease": {
                "doid": "3571", 
                "url": "http://disease-ontology.org/term/DOID:3571", 
                "icd10": "", 
                "name": "DOID:3571 / Liver cancer [Livca]"
            }, 
            "significant": "Yes", 
            "evidence": [
                {
                    "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A2IDD5", 
                    "id": "A2IDD5", 
                    "database": "BioXpress"
                }
            ]
        }, 
        {
            "trend": "Up", 
            "disease": {
                "doid": "10283", 
                "url": "http://disease-ontology.org/term/DOID:10283", 
                "icd10": "", 
                "name": "DOID:10283 / Prostate cancer [PCa]"
            }, 
            "significant": "Yes", 
            "evidence": [
                {
                    "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A2IDD5", 
                    "id": "A2IDD5", 
                    "database": "BioXpress"
                }
            ]
        }, 
        {
            "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/A2IDD5", 
                    "id": "A2IDD5", 
                    "database": "BioXpress"
                }
            ]
        }, 
        {
            "trend": "Up", 
            "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/A2IDD5", 
                    "id": "A2IDD5", 
                    "database": "BioXpress"
                }
            ]
        }
    ], 
    "uniprot_ac": "A2IDD5", 
    "disease": [
        {
            "doid": "14717", 
            "url": "http://disease-ontology.org/term/DOID:14717", 
            "icd10": "", 
            "name": "Centronuclear myopathy", 
            "evidence": [
                {
                    "url": "https://www.omim.org/entry/614807", 
                    "id": "614807", 
                    "database": "OMIM"
                }
            ]
        }
    ], 
    "mass": {
        "monoisotopic_mass": 48521.0, 
        "chemical_mass": 48521.0
    }, 
    "expression_tissue": [
        {
            "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=ENSG00000162004", 
                    "id": "ENSG00000162004", 
                    "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=ENSG00000162004", 
                    "id": "ENSG00000162004", 
                    "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=ENSG00000162004", 
                    "id": "ENSG00000162004", 
                    "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=ENSG00000162004", 
                    "id": "ENSG00000162004", 
                    "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=ENSG00000162004", 
                    "id": "ENSG00000162004", 
                    "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=ENSG00000162004", 
                    "id": "ENSG00000162004", 
                    "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=ENSG00000162004", 
                    "id": "ENSG00000162004", 
                    "database": "Bgee"
                }
            ]
        }, 
        {
            "tissue": {
                "url": "http://purl.obolibrary.org/obo/UBERON_0001155", 
                "uberon": "0001155", 
                "name": "Colon"
            }, 
            "present": "no", 
            "evidence": [
                {
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000162004", 
                    "id": "ENSG00000162004", 
                    "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=ENSG00000162004", 
                    "id": "ENSG00000162004", 
                    "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=ENSG00000162004", 
                    "id": "ENSG00000162004", 
                    "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=ENSG00000162004", 
                    "id": "ENSG00000162004", 
                    "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=ENSG00000162004", 
                    "id": "ENSG00000162004", 
                    "database": "Bgee"
                }
            ]
        }, 
        {
            "tissue": {
                "url": "http://purl.obolibrary.org/obo/UBERON_0002048", 
                "uberon": "0002048", 
                "name": "Lung"
            }, 
            "present": "yes", 
            "evidence": [
                {
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000162004", 
                    "id": "ENSG00000162004", 
                    "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=ENSG00000162004", 
                    "id": "ENSG00000162004", 
                    "database": "Bgee"
                }
            ]
        }, 
        {
            "tissue": {
                "url": "http://purl.obolibrary.org/obo/UBERON_0002107", 
                "uberon": "0002107", 
                "name": "Liver"
            }, 
            "present": "yes", 
            "evidence": [
                {
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000162004", 
                    "id": "ENSG00000162004", 
                    "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=ENSG00000162004", 
                    "id": "ENSG00000162004", 
                    "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=ENSG00000162004", 
                    "id": "ENSG00000162004", 
                    "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=ENSG00000162004", 
                    "id": "ENSG00000162004", 
                    "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=ENSG00000162004", 
                    "id": "ENSG00000162004", 
                    "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=ENSG00000162004", 
                    "id": "ENSG00000162004", 
                    "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=ENSG00000162004", 
                    "id": "ENSG00000162004", 
                    "database": "Bgee"
                }
            ]
        }
    ], 
    "gene": [
        {
            "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=14153", 
            "name": "CCDC78", 
            "locus": {
                "end_pos": 722582, 
                "start_pos": 726954, 
                "chromosome": "16", 
                "evidence": [
                    {
                        "url": "https://www.ensembl.org/id/ENSG00000162004", 
                        "id": "ENSG00000162004", 
                        "database": "Ensembl Gene"
                    }
                ]
            }
        }
    ]
}