{ "uniprot_canonical_ac": "A2IDD5-1", "sequence": { "header": "sp|A2IDD5-1|CCD78_HUMAN Isoform 1 of Coiled-coil domain-containing protein 78 OS=Homo sapiens OX=9606 GN=CCDC78 PE=2 SV=1 CANONICAL=A2IDD5-1", "length": 438, "sequence": "MEHAATTGPRPGPPSRRVENVVLRAKDWLPGAPGGTAVWATSLEAEVPPDLALNKEQQLQISKELVDIQITTHHLHEQHEAEIFQLKSEILRLESRVLELELRGDGTSQGCAVPVESDPRHPRAAAQELRHKAQVPGHSDDHRFQVQPKNTMNPENEQHRLGSGLQGEVKWALEHQEARQQALVTRVATLGRQLQGAREEARAAGQRLATQAVVLCSCQGQLRQAEAENARLQLQLKKLKDEYVLRLQHCAWQAVEHADGAGQAPATTALRTFLEATLEDIRAAHRSREQQLARAARSYHKRLVDLSRRHEELLVAYRAPGNPQAIFDIASLDLEPLPVPLVTDFSHREDQHGGPGALLSSPKKRPGGASQGGTSEPQGLDAASWAQIHQKLRDFSRSTQSWNGSGHSCWSGPRWLKSNFLSYRSTWTSTWAGTSTKS" }, "uniprot_id": "CCD78_HUMAN", "enzyme_annotation": [], "glycation": [], "keywords": [], "species": [ { "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2IDD5", "id": "A2IDD5", "database": "UniProtKB" } ], "name": "Homo sapiens", "taxid": 9606 } ], "publication": [ { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/24075808", "type": "PUBMED", "id": "24075808" } ], "title": "Deuterosome-mediated centriole biogenesis.", "journal": "Dev. Cell", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2IDD5", "id": "A2IDD5", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001026907.2", "id": "NP_001026907.2", "database": "RefSeq" } ], "authors": "Hwang P., Klos Dehring D.A., Mitchell B.J., Mitchell J.W., Vladar E.K., Werner M.E.", "date": "2013" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/22818856", "type": "PUBMED", "id": "22818856" } ], "title": "Dominant mutation of ccdc78 in a unique congenital myopathy with prominent internal nuclei and atypical cores.", "journal": "Am. J. Hum. Genet.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2IDD5", "id": "A2IDD5", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001026907.2", "id": "NP_001026907.2", "database": "RefSeq" } ], "authors": "Li X., Xu J., Agrawal P.B., Beggs A.H., Burmeister M., Li J.Z., Joshi S., Davidson A.E., Dowling J.J., Majczenko K., Peng W., Camelo-Piragua S., Manfready R.A.", "date": "2012" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/20237496", "type": "PUBMED", "id": "20237496" } ], "title": "New genetic associations detected in a host response study to hepatitis B vaccine.", "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" } ], "uniprot_ac": "A2IDD5", "site_annotation": [ { "end_pos": 405, "annotation": "n_glycosylation_sequon", "start_pos": 403 } ], "mutation": [ { "sequence_org": "P", "start_pos": 49, "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/A2IDD5", "id": "A2IDD5", "database": "BioMuta" } ], "frequency": "2.0", "sequence_mut": "T", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 49, "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%)." }, { "sequence_org": "H", "start_pos": 257, "subjects_positive": "1", "disease": [ { "synonyms": [], "recommended_name": { "id": "9256", "url": "http://disease-ontology.org/term/DOID:9256", "resource": "Disease Ontology", "name": "colorectal cancer", "description": "" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2IDD5", "id": "A2IDD5", "database": "BioMuta" } ], "frequency": "1.1", "sequence_mut": "Q", "subjects_tested": "94", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 257, "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (1.1%)." }, { "sequence_org": "V", "start_pos": 18, "subjects_positive": "7", "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/A2IDD5", "id": "A2IDD5", "database": "BioMuta" } ], "frequency": "14.0", "sequence_mut": "G", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 18, "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (14.0%)." }, { "sequence_org": "C", "start_pos": 111, "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/A2IDD5", "id": "A2IDD5", "database": "BioMuta" } ], "frequency": "2.0", "sequence_mut": "Y", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 111, "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%)." }, { "sequence_org": "W", "start_pos": 28, "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/A2IDD5", "id": "A2IDD5", "database": "BioMuta" } ], "frequency": "2.0", "sequence_mut": "C", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 28, "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%)." }, { "sequence_org": "R", "start_pos": 348, "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/A2IDD5", "id": "A2IDD5", "database": "BioMuta" } ], "frequency": "2.0", "sequence_mut": "L", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 348, "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%)." } ], "isoforms": [ { "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": { "header": "tr|H3BLT8-1|CCD78_HUMAN Computationally mapped isoform of Coiled-coil domain-containing protein 78 OS=Homo sapiens OX=9606 GN=CCDC78 PE=2 SV=2 CANONICAL=A2IDD5-1", "length": 470, "sequence": "MEHAATTGPRPGPPSRRVENVVLRAKDWLPGAPGGTAVWATSLEAEVPPDLALNKEQQLQISKELVDIQITTHHLHEQHEAEIFQLKSEILRLESRVLELELRGDGTSQGCAVPVESDPRHPRAAAQELRHKAQVPGHSDDHRFQVQPKNTMNPENEQHRLGSGLQGEVKWALEHQEARQQALVTRVATLGRQLQGAREEARAAGQRLATQAVVLCSCQGQLRQAEAENARLQLQLKKLKDEYVLRLQHCAWQAVEHADGAGQAPATTALRTFLEATLEDIRAAHRSREQQLARAARSYHKRLVDLSRRHEELLVAYRAPGNPQAIFDIASLDLEPLPVPLVTDFSHREDQHGGPGALLSSPKKRPGGASQGGTSEPQGLDAASWAQIHQKLRDFSRSTQAELERERAQLLVRATMAEEQLSELQEYVDQHLGRYKHEILRLRKLAGAGDPWKVGAVPPAKPQHPRTGSH" } }, { "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": { "header": "tr|A0A494C131-1|CCD78_HUMAN Computationally mapped isoform of Coiled-coil domain-containing protein 78 OS=Homo sapiens OX=9606 GN=CCDC78 PE=2 SV=1 CANONICAL=A2IDD5-1", "length": 163, "sequence": "MEHAATTGPRPGPPSRRVENVSPLGLAAPAMGLKSARSPKGQEGAGSCTLGLISARRGTFTAQPGREAGLVTAWEWGHSPAWDPPGEWVAVPPQVVLRAKDWLPGAPGGTAVWATSLEAEVPPDLALNKEQQLQISKELVDIQITTHHLHEQHEAEIFQLKSE" } }, { "url": "https://www.uniprot.org/uniprot/A2IDD5#A2IDD5-6", "isoform_ac": "A2IDD5-6", "locus": { "end_pos": 0, "start_pos": 0, "chromosome": "N/A", "evidence": [] }, "sequence": { "header": "sp|A2IDD5-6|CCD78_HUMAN Isoform 6 of Coiled-coil domain-containing protein 78 OS=Homo sapiens OX=9606 GN=CCDC78 PE=2 SV=1 CANONICAL=A2IDD5-1", "length": 262, "sequence": "MEHAATTGPRPGPPSRRVENVVLRAKDWLPGAPGGTAVWATSLEAEVPPDLALNKEQQLQISKELVDIQITTHHLHEQHEAEIFQLKSEILRLESRVLELELRGDGTSQGCAVPVESDPRHPRAAAQELRHKAQVQPKNTMNPENEQHRLGSGVSVQPPSSGERAAPETPSLGSHPASPVCPTAAGGSEVGAGASGGPAAGTGDACVSGHLTWGPILEQREPLIVGLLSLTPVSSGQPWAGSCREPERRPGQPGSDWPHRLW" } }, { "url": "https://www.uniprot.org/uniprot/A2IDD5#A2IDD5-4", "isoform_ac": "A2IDD5-4", "locus": { "end_pos": 0, "start_pos": 0, "chromosome": "N/A", "evidence": [] }, "sequence": { "header": "sp|A2IDD5-4|CCD78_HUMAN Isoform 4 of Coiled-coil domain-containing protein 78 OS=Homo sapiens OX=9606 GN=CCDC78 PE=2 SV=1 CANONICAL=A2IDD5-1", "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": "N/A", "evidence": [] }, "sequence": { "header": "sp|A2IDD5-5|CCD78_HUMAN Isoform 5 of Coiled-coil domain-containing protein 78 OS=Homo sapiens OX=9606 GN=CCDC78 PE=2 SV=1 CANONICAL=A2IDD5-1", "length": 347, "sequence": "MEHAATTGPRPGPPSRRVENVSPLGLAAPAMGLKSARSPKGQEGAGSCTLGLISARRGTFTAQPGREAGLVTAWEWGHSPAWDPPGEWVAVPPQVVLRAKDWLPGAPGGTAVWATSLEAEVPPDLALNKEQQLQISKELVDIQITTHHLHEQHEAEIFQLKSEILRLESRVLELELRGDGTSQGCAVPVESDPRHPRAAAQELRHKAQVPGHSDDHRFQVQPKNTMNPENEQHRLGSGVSVQPPSSGERAAPETPSLGSHPASPVCPTAAGGSEVGAGASGGPAAGTGDACVSGHLTWGPILEQREPLIVGLLSLTPVSSGQPWAGSCREPERRPGQPGSDWPHRLW" } }, { "url": "https://www.uniprot.org/uniprot/A2IDD5#A2IDD5-2", "isoform_ac": "A2IDD5-2", "locus": { "end_pos": 0, "start_pos": 0, "chromosome": "N/A", "evidence": [] }, "sequence": { "header": "sp|A2IDD5-2|CCD78_HUMAN Isoform 2 of Coiled-coil domain-containing protein 78 OS=Homo sapiens OX=9606 GN=CCDC78 PE=2 SV=1 CANONICAL=A2IDD5-1", "length": 187, "sequence": "MEHAATTGPRPGPPSRRVENVVLRAKDWLPGAPGGTAVWATSLEAEVPPDLALNKEQQLQISKELVDIQITTHHLHEQHEAEIFQLKSEILRLESRVLELELRGDGTSQGCAVPVESDPRHPRAAAQELRHKAQVPGHSDDHRFQVQPKNTMNPENEQHRLGSGLQGEVKWALEHQEARQQALVTRV" } }, { "url": "https://www.uniprot.org/uniprot/A2IDD5#A2IDD5-3", "isoform_ac": "A2IDD5-3", "locus": { "end_pos": 0, "start_pos": 0, "chromosome": "N/A", "evidence": [] }, "sequence": { "header": "sp|A2IDD5-3|CCD78_HUMAN Isoform 3 of Coiled-coil domain-containing protein 78 OS=Homo sapiens OX=9606 GN=CCDC78 PE=2 SV=1 CANONICAL=A2IDD5-1", "length": 273, "sequence": "MEHAATTGPRPGPPSRRVENVVLRAKDWLPGAPGGTAVWATSLEAEVPPDLALNKEQQLQISKELVDIQITTHHLHEQHEAEIFQLKSEILRLESRVLELELRGDGTSQGCAVPVESDPRHPRAAAQELRHKAQVPGHSDDHRFQVQPKNTMNPENEQHRLGSGVSVQPPSSGERAAPETPSLGSHPASPVCPTAAGGSEVGAGASGGPAAGTGDACVSGHLTWGPILEQREPLIVGLLSLTPVSSGQPWAGSCREPERRPGQPGSDWPHRLW" } }, { "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": { "header": "sp|A2IDD5-1|CCD78_HUMAN Isoform 1 of Coiled-coil domain-containing protein 78 OS=Homo sapiens OX=9606 GN=CCDC78 PE=2 SV=1 CANONICAL=A2IDD5-1", "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": { "header": "tr|I3L158-1|CCD78_HUMAN Computationally mapped isoform of Coiled-coil domain-containing protein 78 OS=Homo sapiens OX=9606 GN=CCDC78 PE=2 SV=8 CANONICAL=A2IDD5-1", "length": 56, "sequence": "MNPENEQHRLGSGLQGEVKWALEHQEARQQALVTRVATLGRQLQGAREEARAAGQR" } } ], "pathway": [ { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+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": "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" } ] }, { "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" } ] } ], "orthologs": [], "interactions": [], "synthesized_glycans": [], "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", "pmid": "22818856", "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", "pmid": "22818856", "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", "pmid": "24075808", "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", "pmid": "22818856", "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", "pmid": "24075808", "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", "pmid": "22818856", "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:0098535", "pmid": "24075808", "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" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030030", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2IDD5", "id": "A2IDD5", "database": "UniProtKB" } ], "name": "cell projection organization", "id": "GO:0030030" } ], "total": 3, "name": "Biological Process" } ] }, "gene_names": [ { "type": "synonym", "resource": "refseq", "name": "CCDC78" }, { "type": "synonym", "resource": "uniprotkb", "name": "JFP10" }, { "type": "synonym", "resource": "refseq", "name": "C16orf25; CNM4; hsCCDC78; JFP10" }, { "type": "recommended", "resource": "uniprotkb", "name": "CCDC78" }, { "type": "synonym", "resource": "uniprotkb", "name": "C16orf25" } ], "crossref": [ { "url": "http://research.bioinformatics.udel.edu/pro/entry/PR_A2IDD5", "id": "PR_A2IDD5", "database": "PRO" }, { "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=14153", "id": "14153", "database": "HGNC" }, { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:124093", "id": "hsa:124093", "database": "KEGG Pathway" }, { "url": "http://pfam.xfam.org/family/PF14739", "id": "PF14739", "database": "Pfam" }, { "url": "http://www.omim.org/entry/614666", "id": "614666", "database": "MIM" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR039873", "id": "IPR039873", "database": "InterPro" }, { "url": "https://www.ncbi.nlm.nih.gov/gene/124093", "id": "124093", "database": "GeneID" }, { "url": "https://omabrowser.org/oma/group/GHSDDCR/", "id": "GHSDDCR", "database": "OMA" }, { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000162004", "id": "ENSG00000162004", "database": "Bgee" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001026907.2", "id": "NP_001026907.2", "database": "RefSeq" }, { "url": "http://www.orthodb.org/?query=773737at2759", "id": "773737at2759", "database": "OrthoDB" }, { "url": "https://www.nextprot.org/entry/NX_A2IDD5", "id": "NX_A2IDD5", "database": "neXtProt" }, { "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR22106", "id": "PTHR22106", "database": "PANTHER" }, { "url": "https://pharos.nih.gov/targets/A2IDD5", "id": "A2IDD5", "database": "PHAROS" }, { "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC78", "id": "CCDC78", "database": "GeneCards" }, { "url": "http://www.omim.org/entry/614807", "id": "614807", "database": "MIM" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR029329", "id": "IPR029329", "database": "InterPro" }, { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2IDD5", "id": "A2IDD5", "database": "BioMuta" }, { "url": "https://www.ebi.ac.uk/intact/interactors/id:A2IDD5*", "id": "A2IDD5", "database": "IntAct" } ], "expression_disease": [ { "name": "Esophageal cancer [DO disease name]", "trend": "Up", "disease": { "doid": "5041", "url": "http://disease-ontology.org/term/DOID:5041", "icd10": "", "name": "Esophageal cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A2IDD5", "id": "A2IDD5", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:5041", "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/A2IDD5", "id": "A2IDD5", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:10283", "significant": "Yes" }, { "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/A2IDD5", "id": "A2IDD5", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:3907", "significant": "Yes" }, { "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/A2IDD5", "id": "A2IDD5", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:3571", "significant": "Yes" }, { "name": "Lung adenocarcinoma [DO disease name]", "trend": "Down", "disease": { "doid": "3910", "url": "http://disease-ontology.org/term/DOID:3910", "icd10": "", "name": "Lung adenocarcinoma" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A2IDD5", "id": "A2IDD5", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:3910", "significant": "No" }, { "name": "Urinary bladder cancer [DO disease name]", "trend": "Up", "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/A2IDD5", "id": "A2IDD5", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:11054", "significant": "Yes" }, { "name": "Thyroid gland cancer [DO disease name]", "trend": "Up", "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/A2IDD5", "id": "A2IDD5", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:1781", "significant": "Yes" } ], "glycosylation": [], "disease": [ { "synonyms": [ { "id": "0013890", "url": "https://monarchinitiative.org/disease/MONDO:0013890#gene-causal", "resource": "MONDO", "name": "congenital myopathy with internal nuclei and atypical cores", "description": "" }, { "id": "0013890", "url": "https://monarchinitiative.org/disease/MONDO:0013890#gene-causal", "resource": "MONDO", "name": "myopathy, centronuclear, 4", "description": "" }, { "id": "0013890", "url": "https://monarchinitiative.org/disease/MONDO:0013890#gene-causal", "resource": "MONDO", "name": "centronuclear myopathy type 4", "description": "" }, { "id": "0013890", "url": "https://monarchinitiative.org/disease/MONDO:0013890#gene-causal", "resource": "MONDO", "name": "myopathy, centronuclear, 4; CNM4", "description": "" }, { "id": "0013890", "url": "https://monarchinitiative.org/disease/MONDO:0013890#gene-causal", "resource": "MONDO", "name": "CNM4", "description": "" }, { "id": "0013890", "url": "https://monarchinitiative.org/disease/MONDO:0013890#gene-causal", "resource": "MONDO", "name": "myopathy, centronuclear, type 4", "description": "" } ], "recommended_name": { "id": "0111224", "url": "http://disease-ontology.org/term/DOID:0111224", "resource": "Disease Ontology", "name": "centronuclear myopathy 4", "description": "" }, "evidence": [ { "url": "https://www.omim.org/entry/614807", "id": "614807", "database": "MIM" } ] } ], "phosphorylation": [], "mass": { "monoisotopic_mass": 48521.0, "chemical_mass": 48521.0 }, "expression_tissue": [ { "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_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_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_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_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_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_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_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_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_0001255", "uberon": "0001255", "name": "Urinary bladder" }, "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_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_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_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_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_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_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_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_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_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_0002107", "uberon": "0002107", "name": "Liver" }, "present": "no", "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" } ] } ], "gene": [ { "url": "https://www.uniprot.org/uniprot/A2IDD5", "name": "CCDC78", "locus": { "end_pos": 722582, "start_pos": 726954, "chromosome": "16", "evidence": [ { "url": "https://www.ensembl.org/id/ENSG00000162004", "id": "ENSG00000162004", "database": "Ensembl Gene" } ] } } ], "protein_names": [ { "type": "synonym", "resource": "uniprotkb", "name": "hsCCDC78" }, { "type": "recommended", "resource": "uniprotkb", "name": "Coiled-coil domain-containing protein 78" }, { "type": "synonym", "resource": "refseq", "name": "coiled-coil domain-containing protein 78" } ] }