{ "uniprot_canonical_ac": "A2RUB6-1", "ptm_annotation": [], "sequence": { "header": "sp|A2RUB6-1|CCD66_HUMAN Isoform 1 of Coiled-coil domain-containing protein 66 OS=Homo sapiens OX=9606 GN=CCDC66 PE=1 SV=4 CANONICAL=A2RUB6-1", "length": 948, "sequence": "MNLGDGLKLETELLDGKTKLILSPYEHKSKISVKMGNKAKIAKCPLRTKTGHILKSTQDTCIGSEKLLQKKPVGSETSQAKGEKNGMTFSSTKDLCKQCIDKDCLHIQKEISPATPNMQKTRNTVNTSLVGKQKPHKKHITAENMKSSLVCLTQDQLQQILMTVNQGNRSLSLTENGKEAKSQYSLYLNSISNQPKDENIMGLFKKTEMVSSVPAENKSVLNEHQETSKQCEQKIAIENEWKPADIFSTLGERECDRSSLEAKKAQWRKELDEQVALKKKEKEVSEKWNDPWKKSESDKIIWEKHQILDQSRETVLLEHPFSAVKQELQRKWIEELNKQIEDDRQRKIEEKIIYSKGEEHDRWAMHFDSLKSYPGSQSQLFSQSTHKQPEYFCVSPDTQELADVSSVCTPTTGSQVEPSEEEHIAKPIKDVVMANSKKTNFLRSMTALLDPAQIEERDRRRQKQLEHQKAITAQVEEKRRKKQLEEEQRKKEEQEEELRLAQEREEMQKQYEEDILKQKQKEEIMTLKTNELFQTMQRAQELAQRLKQEQRIRELAQKGHDTSRLIKNLGVDTIQMEYNASNISNSRHDSDEISGKMNTYMNSTTSKKDTGVQTDDLNIGIFTNAESHCGSLMERDITNCSSPEISAELIGQFSTKKNKQELTQDKGASLEKENNRCNDQCNQFTRIEKQTKHMKKYPKRPDWNINKPPKRYIPASEKYPKQLQKQREEKKVRRQMELLHLVEKNNPGHLSQNRGISPEIFHSSHQETESKLRWHLVKKEEEPLNIHSFSKERSPSSPVPVVKNRTQQTQNTLHLPLKNSSYERENLISGSNQTELSSGISESSHFIPYVRTNEIYYLDPDAPLSGPSTQDPQYQNSQDCGQKRQLFDSDCVRDPLLNPNMVKNRDRQQAILKGLSELRQGLLQKQKELESSLLPLAENQEESFGSSF" }, "uniprot_id": "F8WCY0_HUMAN", "enzyme_annotation": [], "glycation": [], "keywords": [], "species": [ { "common_name": "Human", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RUB6", "id": "A2RUB6", "database": "UniProtKB" } ], "name": "Homo sapiens", "taxid": 9606 } ], "go_annotation": { "categories": [ { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008017", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RUB6", "id": "A2RUB6", "database": "UniProtKB" } ], "name": "microtubule binding", "id": "GO:0008017" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008017", "pmid": "28235840", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RUB6", "id": "A2RUB6", "database": "UniProtKB" } ], "name": "microtubule binding", "id": "GO:0008017" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RUB6", "id": "A2RUB6", "database": "UniProtKB" } ], "name": "protein homodimerization activity", "id": "GO:0042803" } ], "total": 3, "name": "Molecular Function" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RUB6", "id": "A2RUB6", "database": "UniProtKB" } ], "name": "centrosome", "id": "GO:0005813" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RUB6", "id": "A2RUB6", "database": "UniProtKB" } ], "name": "cytosol", "id": "GO:0005829" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030054", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RUB6", "id": "A2RUB6", "database": "UniProtKB" } ], "name": "cell junction", "id": "GO:0030054" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034451", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RUB6", "id": "A2RUB6", "database": "UniProtKB" } ], "name": "centriolar satellite", "id": "GO:0034451" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090543", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RUB6", "id": "A2RUB6", "database": "UniProtKB" } ], "name": "Flemming body", "id": "GO:0090543" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "pmid": "28235840", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RUB6", "id": "A2RUB6", "database": "UniProtKB" } ], "name": "centrosome", "id": "GO:0005813" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005874", "pmid": "28235840", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RUB6", "id": "A2RUB6", "database": "UniProtKB" } ], "name": "microtubule", "id": "GO:0005874" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005929", "pmid": "28235840", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RUB6", "id": "A2RUB6", "database": "UniProtKB" } ], "name": "cilium", "id": "GO:0005929" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001917", "pmid": "19777273", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RUB6", "id": "A2RUB6", "database": "UniProtKB" } ], "name": "photoreceptor inner segment", "id": "GO:0001917" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034451", "pmid": "28235840", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RUB6", "id": "A2RUB6", "database": "UniProtKB" } ], "name": "centriolar satellite", "id": "GO:0034451" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036064", "pmid": "28235840", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RUB6", "id": "A2RUB6", "database": "UniProtKB" } ], "name": "ciliary basal body", "id": "GO:0036064" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001750", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RUB6", "id": "A2RUB6", "database": "UniProtKB" } ], "name": "photoreceptor outer segment", "id": "GO:0001750" } ], "total": 12, "name": "Cellular Component" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060271", "pmid": "28235840", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RUB6", "id": "A2RUB6", "database": "UniProtKB" } ], "name": "cilium assembly", "id": "GO:0060271" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001578", "pmid": "28235840", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RUB6", "id": "A2RUB6", "database": "UniProtKB" } ], "name": "microtubule bundle formation", "id": "GO:0001578" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903564", "pmid": "28235840", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RUB6", "id": "A2RUB6", "database": "UniProtKB" } ], "name": "regulation of protein localization to cilium", "id": "GO:1903564" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001895", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RUB6", "id": "A2RUB6", "database": "UniProtKB" } ], "name": "retina homeostasis", "id": "GO:0001895" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050908", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RUB6", "id": "A2RUB6", "database": "UniProtKB" } ], "name": "detection of light stimulus involved in visual perception", "id": "GO:0050908" } ], "total": 5, "name": "Biological Process" } ] }, "publication": [ { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/19777273", "type": "PubMed", "id": "19777273" } ], "title": "Progressive retinal atrophy in Schapendoes dogs: mutation of the newly identified CCDC66 gene.", "journal": "Neurogenetics", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RUB6", "id": "A2RUB6", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001012524.4", "id": "NP_001012524.4", "database": "RefSeq" } ], "authors": "Epplen J.T., Akkad D.A., Dekomien G., Gerding W.M., Petrasch-Parwez E., Boeve M.H., Vollrath C.", "date": "2010" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/21680557", "type": "PubMed", "id": "21680557" } ], "title": "Ccdc66 null mutation causes retinal degeneration and dysfunction.", "journal": "Hum. Mol. Genet.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RUB6", "id": "A2RUB6", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001012524.4", "id": "NP_001012524.4", "database": "RefSeq" } ], "authors": "Gal A., Epplen J.T., Schreiber S., Akkad D.A., Dekomien G., Gerding W.M., Petrasch-Parwez E., Ruelicke T., Ibrahim S., Dermietzel R., Atorf J., Kremers J., Schulte-Middelmann T., de Castro Marques A.", "date": "2011" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/28235840", "type": "PubMed", "id": "28235840" } ], "title": "The centriolar satellite protein CCDC66 interacts with CEP290 and functions in cilium formation and trafficking.", "journal": "J. Cell Sci.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RUB6", "id": "A2RUB6", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001012524.4", "id": "NP_001012524.4", "database": "RefSeq" } ], "authors": "Yates J.R. III, Firat-Karalar E.N., Rauniyar N., Conkar D., Culfa E., Odabasi E.", "date": "2017" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/28249903", "type": "PubMed", "id": "28249903" } ], "title": "Noncoding Effects of Circular RNA CCDC66 Promote Colon Cancer Growth and Metastasis.", "journal": "Cancer research", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001012524.4", "id": "NP_001012524.4", "database": "RefSeq" } ], "authors": "Hsiao KY, Lin YC, Gupta SK, Chang N, Yen L, Sun HS, Tsai SJ", "date": "2017" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/28369829", "type": "PubMed", "id": "28369829" } ], "title": "Genome-wide linkage and sequence analysis challenge CCDC66 as a human retinal dystrophy candidate gene and support a distinct NMNAT1-related fundus phenotype.", "journal": "Clinical genetics", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001012524.4", "id": "NP_001012524.4", "database": "RefSeq" } ], "authors": "Khan AO, Budde BS, Nurnberg P, Kawalia A, Lenzner S, Bolz HJ", "date": "2018" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/29855336", "type": "PubMed", "id": "29855336" } ], "title": "The role of HGF-MET pathway and CCDC66 cirRNA expression in EGFR resistance and epithelial-to-mesenchymal transition of lung adenocarcinoma cells.", "journal": "Journal of hematology & oncology", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001012524.4", "id": "NP_001012524.4", "database": "RefSeq" } ], "authors": "Joseph NA, Chiou SH, Lung Z, Yang CL, Lin TY, Chang HW, Sun HS, Gupta SK, Yen L, Wang SD, Chow KC", "date": "2018" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/30443988", "type": "PubMed", "id": "30443988" } ], "title": "Circular RNA CCDC66 targets DCX to regulate cell proliferation and migration by sponging miR-488-3p in Hirschsprung's disease.", "journal": "Journal of cellular physiology", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001012524.4", "id": "NP_001012524.4", "database": "RefSeq" } ], "authors": "Wen Z, Shen Q, Zhang H, Su Y, Zhu Z, Chen G, Peng L, Li H, Du C, Xie H, Xu X, Tang W", "date": "2019" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/31173287", "type": "PubMed", "id": "31173287" } ], "title": "Circ-CCDC66 accelerates proliferation and invasion of gastric cancer via binding to miRNA-1238-3p.", "journal": "European review for medical and pharmacological sciences", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001012524.4", "id": "NP_001012524.4", "database": "RefSeq" } ], "authors": "Yang M, Wang GY, Qian H, Ji XY, Liu CY, Zeng XH, Lv J, Shi YX", "date": "2019" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/31582766", "type": "PubMed", "id": "31582766" } ], "title": "Centrosomal and ciliary targeting of CCDC66 requires cooperative action of centriolar satellites, microtubules and molecular motors.", "journal": "Scientific reports", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001012524.4", "id": "NP_001012524.4", "database": "RefSeq" } ], "authors": "Conkar D, Bayraktar H, Firat-Karalar EN", "date": "2019" } ], "uniprot_ac": "A2RUB6", "gene_names": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/A2RUB6", "type": "synonym", "resource": "RefSeq", "name": "CCDC66" }, { "url": "https://www.uniprot.org/uniprot/A2RUB6", "type": "recommended", "resource": "UniProtKB", "name": "CCDC66" } ], "reactions": [], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A2RUB6#A2RUB6-1", "isoform_ac": "A2RUB6-1", "locus": { "end_pos": 56557243, "strand": "-", "start_pos": 56621615, "chromosome": "3", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000394672", "id": "ENST00000394672", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000378167", "id": "ENSP00000378167", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A2RUB6-1|CCD66_HUMAN Isoform 1 of Coiled-coil domain-containing protein 66 OS=Homo sapiens OX=9606 GN=CCDC66 PE=1 SV=4 CANONICAL=A2RUB6-1", "length": 948, "sequence": "MNLGDGLKLETELLDGKTKLILSPYEHKSKISVKMGNKAKIAKCPLRTKTGHILKSTQDTCIGSEKLLQKKPVGSETSQAKGEKNGMTFSSTKDLCKQCIDKDCLHIQKEISPATPNMQKTRNTVNTSLVGKQKPHKKHITAENMKSSLVCLTQDQLQQILMTVNQGNRSLSLTENGKEAKSQYSLYLNSISNQPKDENIMGLFKKTEMVSSVPAENKSVLNEHQETSKQCEQKIAIENEWKPADIFSTLGERECDRSSLEAKKAQWRKELDEQVALKKKEKEVSEKWNDPWKKSESDKIIWEKHQILDQSRETVLLEHPFSAVKQELQRKWIEELNKQIEDDRQRKIEEKIIYSKGEEHDRWAMHFDSLKSYPGSQSQLFSQSTHKQPEYFCVSPDTQELADVSSVCTPTTGSQVEPSEEEHIAKPIKDVVMANSKKTNFLRSMTALLDPAQIEERDRRRQKQLEHQKAITAQVEEKRRKKQLEEEQRKKEEQEEELRLAQEREEMQKQYEEDILKQKQKEEIMTLKTNELFQTMQRAQELAQRLKQEQRIRELAQKGHDTSRLIKNLGVDTIQMEYNASNISNSRHDSDEISGKMNTYMNSTTSKKDTGVQTDDLNIGIFTNAESHCGSLMERDITNCSSPEISAELIGQFSTKKNKQELTQDKGASLEKENNRCNDQCNQFTRIEKQTKHMKKYPKRPDWNINKPPKRYIPASEKYPKQLQKQREEKKVRRQMELLHLVEKNNPGHLSQNRGISPEIFHSSHQETESKLRWHLVKKEEEPLNIHSFSKERSPSSPVPVVKNRTQQTQNTLHLPLKNSSYERENLISGSNQTELSSGISESSHFIPYVRTNEIYYLDPDAPLSGPSTQDPQYQNSQDCGQKRQLFDSDCVRDPLLNPNMVKNRDRQQAILKGLSELRQGLLQKQKELESSLLPLAENQEESFGSSF" } }, { "url": "https://www.uniprot.org/uniprot/A2RUB6#A2RUB6-2", "isoform_ac": "A2RUB6-2", "locus": {}, "sequence": { "header": "sp|A2RUB6-2|CCD66_HUMAN Isoform 2 of Coiled-coil domain-containing protein 66 OS=Homo sapiens OX=9606 GN=CCDC66 PE=1 SV=4 CANONICAL=A2RUB6-1", "length": 287, "sequence": "MNLGDGLKLETELLDGKTKLILSPYEHKSKISVKMGNKAKIAKCPLRTKTGHILKSTQDTCIGSEKLLQKKPVGSETSQAKGEKNGMTFSSTKDLCKQCIDKDCLHIQKEISPATPNMQKTRNTVNTSLVGKQKPHKKHITAENMKSSLVCLTQDQLQQILMTVNQGNRSLSLTENGKEAKSQYSLYLNSISNQPKDENIMGLFKKTEMVSSVPAENKSVLNEHQETSKQCEQKIAIENEWKPADIFSTLGERECDRSSLEAKKAQWRKELVLQTVQAWYQHLLGFW" } }, { "url": "https://www.uniprot.org/uniprot/A2RUB6#A2RUB6-3", "isoform_ac": "A2RUB6-3", "locus": { "end_pos": 56563684, "strand": "-", "start_pos": 56621615, "chromosome": "3", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000326595", "id": "ENST00000326595", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000326050", "id": "ENSP00000326050", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A2RUB6-3|CCD66_HUMAN Isoform 3 of Coiled-coil domain-containing protein 66 OS=Homo sapiens OX=9606 GN=CCDC66 PE=1 SV=4 CANONICAL=A2RUB6-1", "length": 914, "sequence": "MGNKAKIAKCPLRTKTGHILKSTQDTCIGSEKLLQKKPVGSETSQAKGEKNGMTFSSTKDLCKQCIDKDCLHIQKEISPATPNMQKTRNTVNTSLVGKQKPHKKHITAENMKSSLVCLTQDQLQQILMTVNQGNRSLSLTENGKEAKSQYSLYLNSISNQPKDENIMGLFKKTEMVSSVPAENKSVLNEHQETSKQCEQKIAIENEWKPADIFSTLGERECDRSSLEAKKAQWRKELDEQVALKKKEKEVSEKWNDPWKKSESDKIIWEKHQILDQSRETVLLEHPFSAVKQELQRKWIEELNKQIEDDRQRKIEEKIIYSKGEEHDRWAMHFDSLKSYPGSQSQLFSQSTHKQPEYFCVSPDTQELADVSSVCTPTTGSQVEPSEEEHIAKPIKDVVMANSKKTNFLRSMTALLDPAQIEERDRRRQKQLEHQKAITAQVEEKRRKKQLEEEQRKKEEQEEELRLAQEREEMQKQYEEDILKQKQKEEIMTLKTNELFQTMQRAQELAQRLKQEQRIRELAQKGHDTSRLIKNLGVDTIQMEYNASNISNSRHDSDEISGKMNTYMNSTTSKKDTGVQTDDLNIGIFTNAESHCGSLMERDITNCSSPEISAELIGQFSTKKNKQELTQDKGASLEKENNRCNDQCNQFTRIEKQTKHMKKYPKRPDWNINKPPKRYIPASEKYPKQLQKQREEKKVRRQMELLHLVEKNNPGHLSQNRGISPEIFHSSHQETESKLRWHLVKKEEEPLNIHSFSKERSPSSPVPVVKNRTQQTQNTLHLPLKNSSYERENLISGSNQTELSSGISESSHFIPYVRTNEIYYLDPDAPLSGPSTQDPQYQNSQDCGQKRQLFDSDCVRDPLLNPNMVKNRDRQQAILKGLSELRQGLLQKQKELESSLLPLAENQEESFGSSF" } }, { "url": "https://www.uniprot.org/uniprot/A2RUB6#A2RUB6-4", "isoform_ac": "A2RUB6-4", "locus": {}, "sequence": { "header": "sp|A2RUB6-4|CCD66_HUMAN Isoform 4 of Coiled-coil domain-containing protein 66 OS=Homo sapiens OX=9606 GN=CCDC66 PE=1 SV=4 CANONICAL=A2RUB6-1", "length": 196, "sequence": "MGNKAKIAKCPLRTKTGHILKSTQDTCIGSEKLLQKKPVGSETSQAKGEKNGMTFSSTKDLCKQCIDKDCLHIQKEISPATPNMQKTRNTVNTSLVGKQKPHKKHITAENMKSSLVCLTQDQLQQILMTVNQGNRSLSLTENGKEAKSQYSLYLNSISNQPKDENIMGLFKKTEMVSSVPAENKSVLNEHQETSKQ" } }, { "url": "https://www.uniprot.org/uniprot/A2RUB6#C9JYB8-1", "isoform_ac": "C9JYB8-1", "locus": { "end_pos": 56557243, "strand": "-", "start_pos": 56617299, "chromosome": "3", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000422222", "id": "ENST00000422222", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000401451", "id": "ENSP00000401451", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|C9JYB8-1|C9JYB8_HUMAN Computationally mapped isoform of Coiled-coil domain-containing protein 66 OS=Homo sapiens OX=9606 GN=CCDC66 PE=1 SV=1 CANONICAL=A2RUB6-1", "length": 633, "sequence": "MNLGDGLKLETELLDGKTKLILSPYEHKSKISVKMGNKAKIAKCPLRTKTGHILKSTQDTCIGSEKLLQKKPVGSETSQAKGEKNGMTFSSTKDLCKQCIDKDCLHIQKEISPATPNMQKTRNTVNTSLVGKQKPHKKHITAENMKSSLVCLTQDQLQQILMTVNQGNRSLSLTENGKEAKSQYSLYLNSISNQPKDENIMGLFKKTEMVSSVPAENKSVLNEHQETSKQCEQKIAIENEWKPADIFSTLGERECDRSSLEAKKAQWRKELDEQVALKKKEKEVSEKWNDPWKKSESDKIIWEKHQILDQSRGEEHDRWAMHFDSLKSYPGSQSQLFSQSTHKQPEYFCVSPDTQELADVSSVCTPTTGSQVEPSEEEHIAKPIKDVVMANSKKTNFLRSMTALLDPAQIEERDRRRQKQLEHQKAITAQVEEKRRKKQLEEEQRKKEEQEEELRLAQEREEMQKQYEEDILKQKQKEEIMTLKTNELFQTMQRAQELAQRLKQEQRIRELAQKGHDTSRLIKNLGVDTIQMEYNASNISNSRHDSDEISGKMNTYMNSTTSKKDTGVQTDDLNIGIFTNAESHCGSLMERDITNCSSPEISAELIGQFSTKKNKQELTQDKGASLEKENNRC" } }, { "url": "https://www.uniprot.org/uniprot/A2RUB6#F2Z2K6-1", "isoform_ac": "F2Z2K6-1", "locus": { "end_pos": 56557243, "strand": "-", "start_pos": 56560939, "chromosome": "3", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000439445", "id": "ENST00000439445", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000390652", "id": "ENSP00000390652", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|F2Z2K6-1|F2Z2K6_HUMAN Computationally mapped isoform of Coiled-coil domain-containing protein 66 OS=Homo sapiens OX=9606 GN=CCDC66 PE=1 SV=1 CANONICAL=A2RUB6-1", "length": 60, "sequence": "MNLGDGLKLETELLDGKTKLILSPYEHKSKISVKCLKVFACLWIEPSLDDVPLYPSTLSP" } }, { "url": "https://www.uniprot.org/uniprot/A2RUB6#F8WB87-1", "isoform_ac": "F8WB87-1", "locus": { "end_pos": 56557243, "strand": "-", "start_pos": 56561268, "chromosome": "3", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000422788", "id": "ENST00000422788", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000410510", "id": "ENSP00000410510", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|F8WB87-1|F8WB87_HUMAN Computationally mapped isoform of Coiled-coil domain-containing protein 66 OS=Homo sapiens OX=9606 GN=CCDC66 PE=1 SV=1 CANONICAL=A2RUB6-1", "length": 38, "sequence": "MNLGDGLKLETELLDGKTKLILSPYEHKSKISVKADLL" } }, { "url": "https://www.uniprot.org/uniprot/A2RUB6#F8WCY0-1", "isoform_ac": "F8WCY0-1", "locus": { "end_pos": 56557243, "strand": "-", "start_pos": 56566740, "chromosome": "3", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000341455", "id": "ENST00000341455", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000343840", "id": "ENSP00000343840", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|F8WCY0-1|F8WCY0_HUMAN Computationally mapped isoform of Coiled-coil domain-containing protein 66 OS=Homo sapiens OX=9606 GN=CCDC66 PE=1 SV=1 CANONICAL=A2RUB6-1", "length": 230, "sequence": "MNLGDGLKLETELLDGKTKLILSPYEHKSKISVKMGNKAKIAKCPLRTKTGHILKSTQDTCIGSEKLLQKKPVGSETSQAKGEKNGMTFSSTKDLCKQCIDKDCLHIQKEISPATPNMQKTRNTVNTSLVGKQKPHKKHITAENMKSSLVCLTQDQLQQILMTVNQGNRSLSLTENGKEAKSQYSLYLNSISNQPKDENIMGLFKKTEMVSSVPAENKSVLNEHQETSKQ" } }, { "url": "https://www.uniprot.org/uniprot/A2RUB6#F8WDJ0-1", "isoform_ac": "F8WDJ0-1", "locus": { "end_pos": 56563684, "strand": "-", "start_pos": 56572363, "chromosome": "3", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000471681", "id": "ENST00000471681", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000420192", "id": "ENSP00000420192", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|F8WDJ0-1|F8WDJ0_HUMAN Computationally mapped isoform of Coiled-coil domain-containing protein 66 OS=Homo sapiens OX=9606 GN=CCDC66 PE=1 SV=1 CANONICAL=A2RUB6-1", "length": 287, "sequence": "MGNKAKIAKCPLRTKTGHILKSTQDTCIGSEKLLQKKPVGSETSQAKGEKNGMTFSSTKDLCKQCIDKDCLHIQKEISPATPNMQKTRNTVNTSLVGKQKPHKKHITAENMKSSLVCLTQDQLQQILMTVNQGNRSLSLTENGKEAKSQYSLYLNSISNQPKDENIMGLFKKTEMVSSVPAENKSVLNEHQETSKQCEQKIAIENEWKPADIFSTLGERECDRSSLEAKKAQWRKELDEQVALKKKEKEVSEKWNDPWKKSESDKIIWEKHQILDQSRLFKHSITVS" } } ], "pathway": [ { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:285331", "resource": "KEGG Pathway", "id": "hsa:285331", "name": "" } ], "reaction_participants": [], "function": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001012524.4", "annotation": "Centrosomal and ciliary targeting of CCDC66 requires cooperative action of centriolar satellites, microtubules and molecular motors. Publication Status: Online-Only", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001012524.4", "id": "NP_001012524.4", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001012524.4", "annotation": "Circ-CCDC66 accelerates proliferation and invasion of gastric cancer via binding to miRNA-1238-3p.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001012524.4", "id": "NP_001012524.4", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001012524.4", "annotation": "HGF/c-Met regulates expression of SAE2 and cirRNA CCDC66 to increase epithelial-to-mesenchymal transition and drug resistance of lung adenocarcinoma cells. Publication Status: Online-Only", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001012524.4", "id": "NP_001012524.4", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001012524.4", "annotation": "In-depth characterization revealed that circCCDC66 exerts its function via regulation of a subset of oncogenes, and knockdown of circCCDC66 inhibited tumor growth and cancer invasion in xenograft and orthotopic mouse models, respectively. Taken together, these findings highlight a novel oncogenic function of circRNA in cancer progression and metastasis.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001012524.4", "id": "NP_001012524.4", "database": "RefSeq" } ] }, { "url": "https://www.uniprot.org/uniprot/A2RUB6#function", "annotation": "Microtubule-binding protein required for ciliogenesis (PubMed:28235840). May function in ciliogenesis by mediating the transport of proteins like BBS4 to the cilium, but also through the organization of the centriolar satellites (PubMed:28235840). Plays a role in retina morphogenesis and/or homeostasis (By similarity).", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RUB6#function", "id": "A2RUB6", "database": "UniProtKB" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001012524.4", "annotation": "Results associate a distinct retinal dystrophy phenotype with nicotinamide-nucleotide adenylyltransferase 1 protein (NMNAT1) mutation and suggest coiled-coil domain containing 66 (CCDC66) should not be considered a retinal dystrophy candidate gene.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001012524.4", "id": "NP_001012524.4", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001012524.4", "annotation": "This is the first report revealing that cir-CCDC66 modulates DCX expression through sponging miR-488-3p and thus participates in the onset of Hirschsprung's disease.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001012524.4", "id": "NP_001012524.4", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001012524.4", "annotation": "This study identifies CCDC66 as a targeting factor for centrosome and cilium proteins", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001012524.4", "id": "NP_001012524.4", "database": "RefSeq" } ] } ], "orthologs": [ { "uniprot_canonical_ac": "D3ZB56-1", "protein_name": "Coiled-coil domain-containing 66", "sequence": { "length": 803, "sequence": "MNLGDGLKLETELLDGKTKLILSPYEHKSKVSVKMGNKIKIAKYSLRTKQTGHTLKSTQNTYIGSENLSQKKISTSDTSQAKRENSRLTFSSPSTDLCKQYSEKDCLRVQKEISPTASSIRKTVNTSTDTDPAAKQKPCRKPTAAEGMGSGLVCLTQDQLRQILMLSVNQGNGSMSLPENGEEVTSQDSLHLISIPSQPKEVSVTGLLQKTEAVSPVARENEPVPQRAQAASQQCEQKATVESEWKPADIFSTLGERERDRSLLEARRAQWKKELDEQVALKKKEKEASQKWPDPWKPSEILCEKLQVLERSKEAGLLESPCITVKQEQQRKWIEELNKQVEDDQQRKAEEKLIYSKGEEHDRWAVHFDSFKSHPGSQSRLSSQLTPQHLESLCVSPDTQELADVSSVDTPPPAVQVKPSEKEQRARPVMDMSVSHGQKTNFLRSMTALLDPAQIEERERRRQKQLEHQKAITAQVEENRRKKRLEEEQRRKEEQEEELRLAREREEMQRQYEEDILKQKHKEEIMTLKTNELFHTMQRAQELAQRLKQEQRIRELTQKGHDTSRLIQNLGAHVDCKASTPVSSSRDTEEAANDTRAAATSTASPKKDTGVQTDDVNLGIFNDGLPHCGSVTEWGVRNLSSPEISAEFSGQTGIRKEKQELSMDKGTHLDKENSWYNNRCTQHRRTEKQTKLVKKCPKKPAWNINKPLKRYVPASAKYPAHLQKEKEERKVRRQMELLHLVQRNDPETLSQNNGASPDIFVSSHREAESEMRLHLLKKVKLLYFSVSEFTVTQILVFRRPWFI" }, "evidence": [ { "url": "https://omabrowser.org/oma/group/A2RUB6/", "id": "A2RUB6", "database": "OMA" } ], "common_name": "Rat", "organism": "Rattus norvegicus", "gene_name": "Ccdc66", "tax_id": 10116 }, { "uniprot_canonical_ac": "Q6NS45-1", "protein_name": "Coiled-coil domain-containing protein 66", "sequence": { "length": 935, "sequence": "MNLGDGLKLETELLDGKTKLILSPYEHKSKVSVKMGNKFKIAKCPLRTKQTGHTLKSTQNTYIGNENLSQKKISTLDTSQAKPENSRLTFSPSTDKQYSEKDSVRVQKEISPTTSNIRKIINTTGTCPVAKQKPCKKNPTAETMNSGLVCLTQDQLRQILMLSVNQGNGSVCLTETGEEEASQDSLHLINIPSQPKDVNDTGFLQNTEAASPVTSEHEHVHRRAQEAFQQCEQKAATENEWKPADIFSTLGERERDKSLLEARRAQWKKELDEQVALKKKEKEASQKWHNPWKPSDIECEKSQVHDQSKEARLLESPCSAIKQEQQRKWIEELNKQVEDDQQRKAEERMIYSKGEEHDRWAVHFDSLKSHPGSQSRLSSQLTHQHLESLCVSPDTQELADVNGVFTPPPGVQAEPSEKEQRARPVLEMAVSHGPKTNFLRSMTALLDPAQIEERERRRQKQLEHQKAIMAQVEENRRKKRLEEEQRKKEEQELELRLAREREEMQRQYEEDILKQRQREEIMTLKTNELFHTMQRAQELAQRLKQEQRIRELAQKGHDTSRLIQNLGAQVDYKAFTTISSSHSDPEETADTSTASPKKDTGVQTDDVNLGIFNDALPPCGSVTEKGIRNISSPEISAEFSGQTDIRKENQELSMNKGTNLDKENSWHNGQCNQYRRTEKQTKLMKKCPKKPAWNINKPLKKYVPASAKYPAHLQKEKEEKKVQRQMELLHLVERNNPENLSQNRGISPLATSHRETESESRLHLIKKVEEPLKTPSVSKERFQTSPAVKNRTQQTQSNVLHLPLKNNDYEKETLTLGDGHTKLSDEMSEPSHFIPYVRTNEIYYLDPDAPLSRPSTQDNQYQKSHDCAREQELFDSDHIRDPLLNPKLVKNRDRQQAILKGLSELRQGLLQKQKELETNLIPLTANQEDNFSSSF" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/35309", "id": "35309", "database": "MGI" }, { "url": "https://omabrowser.org/oma/group/A2RUB6/", "id": "A2RUB6", "database": "OMA" } ], "common_name": "Mouse", "organism": "Mus musculus", "gene_name": "Ccdc66", "tax_id": 10090 } ], "interactions": [], "synthesized_glycans": [], "snv": [ { "sequence_org": "E", "start_pos": 592, "alt_nt": "C", "chr_id": "3", "ref_nt": "G", "chr_pos": "56650012", "disease": [ { "disease_id": "DOID:1324", "synonyms": [ { "url": "https://monarchinitiative.org/disease/MONDO:0012159", "resource": "MONDO", "description": "", "name": "LNCR1", "id": "MONDO:0012159" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012159", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 1", "id": "MONDO:0012159" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012159", "resource": "MONDO", "description": "", "name": "LNCR1", "id": "MONDO:0012159" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012159", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 1; LNCR1", "id": "MONDO:0012159" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012955", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 4", "id": "MONDO:0012955" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012955", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 4; LNCR4", "id": "MONDO:0012955" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012955", "resource": "MONDO", "description": "", "name": "LNCR4", "id": "MONDO:0012955" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012955", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 4", "id": "MONDO:0012955" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012942", "resource": "MONDO", "description": "", "name": "LNCR3", "id": "MONDO:0012942" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012942", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 3", "id": "MONDO:0012942" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012942", "resource": "MONDO", "description": "", "name": "LNCR3", "id": "MONDO:0012942" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012942", "resource": "MONDO", "description": "", "name": "adenocarcinoma of lung, susceptibility to", "id": "MONDO:0012942" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012942", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 3; LNCR3", "id": "MONDO:0012942" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013631", "resource": "MONDO", "description": "", "name": "LNCR5", "id": "MONDO:0013631" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013631", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 5; LNCR5", "id": "MONDO:0013631" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013631", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 5", "id": "MONDO:0013631" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013631", "resource": "MONDO", "description": "", "name": "LNCR5", "id": "MONDO:0013631" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "A malignant neoplasm involving the lung.", "name": "lung cancer", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "cancer of lung", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "lung neoplasm", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "alveolar cell carcinoma", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "malignant lung neoplasm", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "malignant lung tumor", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "malignant neoplasm of lung", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "malignant tumor of the lung", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "Nonsmall cell lung cancer", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "malignant tumor of lung", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "malignant neoplasm of the lung", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "lung cancer", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "lung cancer, protection against", "id": "MONDO:0008903" }, { "url": "https://www.omim.org/entry/211980", "resource": "MIM", "description": "Lung cancer", "name": "Lung cancer", "id": "MIM:211980" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:1324", "resource": "Disease Ontology", "description": "A respiratory system cancer that is located_in the lung.", "name": "lung cancer", "id": "DOID:1324" } }, { "disease_id": "DOID:1781", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "neoplasm of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "malignant tumour of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "Thyroid gland neoplasm", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "thyroid neoplasm", "id": "DOID:1781" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage.", "name": "thyroid gland cancer", "id": "DOID:1781" } }, { "disease_id": "DOID:1612", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "description": "", "name": "malignant tumor of the breast", "id": "DOID:1612" }, { "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "description": "", "name": "primary breast cancer", "id": "DOID:1612" }, { "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "description": "", "name": "breast tumor", "id": "DOID:1612" }, { "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "description": "", "name": "mammary tumor", "id": "DOID:1612" }, { "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "description": "", "name": "mammary cancer", "id": "DOID:1612" }, { "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of breast", "id": "DOID:1612" }, { "url": "https://monarchinitiative.org/disease/MONDO:0016419", "resource": "MONDO", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma.", "name": "hereditary breast carcinoma", "id": "MONDO:0016419" }, { "url": "https://monarchinitiative.org/disease/MONDO:0016419", "resource": "MONDO", "description": "", "name": "familial cancer of the breast", "id": "MONDO:0016419" }, { "url": "https://monarchinitiative.org/disease/MONDO:0016419", "resource": "MONDO", "description": "", "name": "familial cancer of breast", "id": "MONDO:0016419" }, { "url": "https://monarchinitiative.org/disease/MONDO:0016419", "resource": "MONDO", "description": "", "name": "familial breast cancer", "id": "MONDO:0016419" }, { "url": "https://monarchinitiative.org/disease/MONDO:0016419", "resource": "MONDO", "description": "", "name": "breast cancer, familial Male", "id": "MONDO:0016419" }, { "url": "https://monarchinitiative.org/disease/MONDO:0016419", "resource": "MONDO", "description": "", "name": "breast cancer, familial", "id": "MONDO:0016419" }, { "url": "https://monarchinitiative.org/disease/MONDO:0016419", "resource": "MONDO", "description": "", "name": "familial breast carcinoma", "id": "MONDO:0016419" }, { "url": "https://monarchinitiative.org/disease/MONDO:0016419", "resource": "MONDO", "description": "", "name": "hereditary breast cancer", "id": "MONDO:0016419" }, { "url": "https://monarchinitiative.org/disease/MONDO:0016419", "resource": "MONDO", "description": "", "name": "hereditary breast carcinoma", "id": "MONDO:0016419" }, { "url": "https://www.omim.org/entry/114480", "resource": "MIM", "description": "Breast cancer", "name": "Breast cancer", "id": "MIM:114480" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "description": "A thoracic cancer that originates in the mammary gland.", "name": "breast cancer", "id": "DOID:1612" } }, { "disease_id": "DOID:9256", "synonyms": [ { "url": "https://monarchinitiative.org/disease/MONDO:0023113", "resource": "MONDO", "description": "Familial colon cancer is a cluster of colon cancer within a family. Most cases ofcolon cancer occur sporadically in people with little to no family history of the condition. Approximately 3-5% of colon cancer is considered 'hereditary' and is thought to be caused by an inherited predisposition tocolon cancer that is passed down through a family in an autosomal dominant or autosomal recessive manner. In some of these families, the underlying genetic cause is not known; however, many of these cases are caused by changes ( mutations ) in the APC , MYH , MLH1 , MSH2 , MSH6 , PMS2 , EPCAM , PTEN , STK11 , SMAD4 , BMPR1A , NTHL1 , POLE , and POLD1 genes (which are associated with hereditary cancer syndromes). An additional 10-30% of people diagnosed with colon cancer have a significant family history of the condition but have no identifiable mutation in a gene known to cause a hereditary predisposition to colon cancer. These clusters of colon cancer are likely due to a combination of gene(s) and other shared factors such as environment and lifestyle. High-risk cancer screening and other preventative measures such as prophylactic surgeries are typically recommended in people who have an increased risk for colon cancer based on their personal and/or family histories.", "name": "familial colorectal cancer", "id": "MONDO:0023113" }, { "url": "https://monarchinitiative.org/disease/MONDO:0023113", "resource": "MONDO", "description": "", "name": "hereditary colorectal cancer", "id": "MONDO:0023113" }, { "url": "https://monarchinitiative.org/disease/MONDO:0023113", "resource": "MONDO", "description": "", "name": "colorectal cancer, familial", "id": "MONDO:0023113" }, { "url": "https://www.omim.org/entry/114500", "resource": "MIM", "description": "Colorectal cancer", "name": "Colorectal cancer", "id": "MIM:114500" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:9256", "resource": "Disease Ontology", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum.", "name": "colorectal cancer", "id": "DOID:9256" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RUB6", "id": "A2RUB6", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "1.5", "sequence_mut": "Q", "subjects_tested": "66", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 2 out of 6 filters: patient freq. (1.5%); num. of cancers (4).", "end_pos": 592, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "E", "start_pos": 12, "alt_nt": "A", "chr_id": "3", "ref_nt": "G", "chr_pos": "56592896", "disease": [ { "disease_id": "DOID:1781", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "neoplasm of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "malignant tumour of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "Thyroid gland neoplasm", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "thyroid neoplasm", "id": "DOID:1781" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage.", "name": "thyroid gland cancer", "id": "DOID:1781" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RUB6", "id": "A2RUB6", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "2.0", "sequence_mut": "K", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%).", "end_pos": 12, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "R", "start_pos": 460, "alt_nt": "A", "chr_id": "3", "ref_nt": "G", "chr_pos": "56628031", "disease": [ { "disease_id": "DOID:1324", "synonyms": [ { "url": "https://monarchinitiative.org/disease/MONDO:0012159", "resource": "MONDO", "description": "", "name": "LNCR1", "id": "MONDO:0012159" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012159", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 1", "id": "MONDO:0012159" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012159", "resource": "MONDO", "description": "", "name": "LNCR1", "id": "MONDO:0012159" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012159", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 1; LNCR1", "id": "MONDO:0012159" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012955", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 4", "id": "MONDO:0012955" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012955", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 4; LNCR4", "id": "MONDO:0012955" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012955", "resource": "MONDO", "description": "", "name": "LNCR4", "id": "MONDO:0012955" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012955", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 4", "id": "MONDO:0012955" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012942", "resource": "MONDO", "description": "", "name": "LNCR3", "id": "MONDO:0012942" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012942", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 3", "id": "MONDO:0012942" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012942", "resource": "MONDO", "description": "", "name": "LNCR3", "id": "MONDO:0012942" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012942", "resource": "MONDO", "description": "", "name": "adenocarcinoma of lung, susceptibility to", "id": "MONDO:0012942" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012942", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 3; 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In some of these families, the underlying genetic cause is not known; however, many of these cases are caused by changes ( mutations ) in the APC , MYH , MLH1 , MSH2 , MSH6 , PMS2 , EPCAM , PTEN , STK11 , SMAD4 , BMPR1A , NTHL1 , POLE , and POLD1 genes (which are associated with hereditary cancer syndromes). An additional 10-30% of people diagnosed with colon cancer have a significant family history of the condition but have no identifiable mutation in a gene known to cause a hereditary predisposition to colon cancer. These clusters of colon cancer are likely due to a combination of gene(s) and other shared factors such as environment and lifestyle. High-risk cancer screening and other preventative measures such as prophylactic surgeries are typically recommended in people who have an increased risk for colon cancer based on their personal and/or family histories.", "name": "familial colorectal cancer", "id": "MONDO:0023113" }, { "url": "https://monarchinitiative.org/disease/MONDO:0023113", "resource": "MONDO", "description": "", "name": "hereditary colorectal cancer", "id": "MONDO:0023113" }, { "url": "https://monarchinitiative.org/disease/MONDO:0023113", "resource": "MONDO", "description": "", "name": "colorectal cancer, familial", "id": "MONDO:0023113" }, { "url": "https://www.omim.org/entry/114500", "resource": "MIM", "description": "Colorectal cancer", "name": "Colorectal cancer", "id": "MIM:114500" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:9256", "resource": "Disease Ontology", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum.", "name": "colorectal cancer", "id": "DOID:9256" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RUB6", "id": "A2RUB6", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "1.2", "sequence_mut": "*", "subjects_tested": "162", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. 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"https://www.uniprot.org/uniprot/A2RUB6", "name": "CCDC66", "locus": { "end_pos": 56621818, "strand": "+", "start_pos": 56557161, "chromosome": "3", "evidence": [ { "url": "https://www.ensembl.org/id/ENSG00000180376", "id": "ENSG00000180376", "database": "Ensembl Gene" } ] } } ], "protein_names": [ { "url": "https://www.uniprot.org/uniprot/A2RUB6#names_and_taxonomy", "type": "synonym", "resource": "UniProtKB", "name": "Coiled-coil domain-containing protein 66" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A2RUB6", "type": "synonym", "resource": "RefSeq", "name": "coiled-coil domain-containing protein 66 isoform 2" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A2RUB6", "type": "synonym", "resource": "RefSeq", "name": "coiled-coil domain-containing protein 66" } ] }