{ "uniprot_canonical_ac": "A0AVK6-1", "ptm_annotation": [], "sequence": { "header": "sp|A0AVK6-1|E2F8_HUMAN Isoform 1 of Transcription factor E2F8 OS=Homo sapiens OX=9606 GN=E2F8 PE=1 SV=1 CANONICAL=A0AVK6-1", "length": 867, "sequence": "MENEKENLFCEPHKRGLMKTPLKESTTANIVLAEIQPDFGPLTTPTKPKEGSQGEPWTPTANLKMLISAVSPEIRNRDQKRGLFDNRSGLPEAKDCIHEHLSGDEFEKSQPSRKEKSLGLLCHKFLARYPNYPNPAVNNDICLDEVAEELNVERRRIYDIVNVLESLHMVSRLAKNRYTWHGRHNLNKTLGTLKSIGEENKYAEQIMMIKKKEYEQEFDFIKSYSIEDHIIKSNTGPNGHPDMCFVELPGVEFRAASVNSRKDKSLRVMSQKFVMLFLVSTPQIVSLEVAAKILIGEDHVEDLDKSKFKTKIRRLYDIANVLSSLDLIKKVHVTEERGRKPAFKWTGPEISPNTSGSSPVIHFTPSDLEVRRSSKENCAKNLFSTRGKPNFTRHPSLIKLVKSIESDRRKINSAPSSPIKTNKAESSQNSAPFPSKMAQLAAICKMQLEEQSSESRQKVKVQLARSGPCKPVAPLDPPVNAEMELTAPSLIQPLGMVPLIPSPLSSAVPLILPQAPSGPSYAIYLQPTQAHQSVTPPQGLSPTVCTTHSSKATGSKDSTDATTEKAANDTSKASASTRPGSLLPAPERQGAKSRTREPAGERGSKRASMLEDSGSKKKFKEDLKGLENVSATLFPSGYLIPLTQCSSLGAESILSGKENSSALSPNHRIYSSPIAGVIPVTSSELTAVNFPSFHVTPLKLMVSPTSVAAVPVGNSPALASSHPVPIQNPSSAIVNFTLQHLGLISPNVQLSASPGSGIVPVSPRIESVNVAPENAGTQQGRATNYDSPVPGQSQPNGQSVAVTGAQQPVPVTPKGSQLVAESFFRTPGGPTKPTSSSCMDFEGANKTSLGTLFVPQRKLEVSTEDVH" }, "uniprot_id": "E2F8_HUMAN", "enzyme_annotation": [], "glycation": [], "keywords": [ "glycoprotein", "reported_with_glycan.oglcnac_db" ], "species": [ { "common_name": "Human", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0AVK6", "id": "A0AVK6", "database": "UniProtKB" } ], "name": "Homo sapiens", "taxid": 9606 } ], "publication": [ { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/15722552", "type": [ "PubMed" ], "id": "15722552" } ], "title": "Cloning and characterization of mouse E2F8, a novel mammalian E2F family member capable of blocking cellular proliferation.", "journal": "The Journal of biological chemistry", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243300.1", "id": "NP_001243300.1", "database": "RefSeq" } ], "authors": "Maiti B, Li J, de Bruin A, Gordon F, Timmers C, Opavsky R, Patil K, Tuttle J, Cleghorn W, Leone G", "date": "2005" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/15897886", "type": [ "PubMed" ], "id": "15897886" } ], "title": "E2F-8: an E2F family member with a similar organization of DNA-binding domains to E2F-7.", "journal": "Oncogene", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0AVK6", "id": "A0AVK6", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243300.1", "id": "NP_001243300.1", "database": "RefSeq" } ], "authors": "Graham A., Zhao X., Fisher R., Leone G., La Thangue N.B., Maiti B., Logan N.", "date": "2005" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/16179649", "type": [ "PubMed" ], "id": "16179649" } ], "title": "Characterization of E2F8, a novel E2F-like cell-cycle regulated repressor of E2F-activated transcription.", "journal": "Nucleic Acids Res.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0AVK6", "id": "A0AVK6", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243300.1", "id": "NP_001243300.1", "database": "RefSeq" } ], "authors": "Helin K., Bracken A.P., Christensen J., Cloos P., Di Stefano L., Heeran M., Klinkenberg D., Toftegaard U., Trinh E.", "date": "2005" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/18194653", "type": [ "PubMed" ], "id": "18194653" } ], "title": "Synergistic function of E2F7 and E2F8 is essential for cell survival and embryonic development.", "journal": "Dev. Cell", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0AVK6", "id": "A0AVK6", "database": "UniProtKB" } ], "authors": "Li J., Li E., Weinstein M., Leone G., Liu C.-G., Chen H.-Z., Cleghorn W., Comstock G., Gordon F., Khanizadeh M., Kornacker K., Pandit S.K., Ran C., Siddiqui H., de Bruin A.", "date": "2008" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/18202719", "type": [ "PubMed" ], "id": "18202719" } ], "title": "DNA-damage response control of E2F7 and E2F8.", "journal": "EMBO Rep.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0AVK6", "id": "A0AVK6", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243300.1", "id": "NP_001243300.1", "database": "RefSeq" } ], "authors": "Zhao X., Fisher R., Reilly C., La Thangue N.B., Coutts A.S., Graham A.L., Zalmas L.P.", "date": "2008" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/18220336", "type": [ "PubMed" ], "id": "18220336" } ], "title": "Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis.", "journal": "J. Proteome Res.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0AVK6", "id": "A0AVK6", "database": "UniProtKB" } ], "authors": "Cantin G.T., Lee J.-D., Lu B., Park S.K., Xu T., Yates J.R. III, Yi W., Yates J.R., Lee J.D.", "date": "2008" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/22802528", "type": [ "PubMed" ], "id": "22802528" } ], "title": "E2F7, a novel target, is up-regulated by p53 and mediates DNA damage-dependent transcriptional repression.", "journal": "Genes Dev.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0AVK6", "id": "A0AVK6", "database": "UniProtKB" } ], "authors": "Hamard P.J., Carvajal L.A., Manfredi J.J., Tonnessen C.", "date": "2012" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/22903062", "type": [ "PubMed" ], "id": "22903062" } ], "title": "E2F7 and E2F8 promote angiogenesis through transcriptional activation of VEGFA in cooperation with HIF1.", "journal": "EMBO J.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0AVK6", "id": "A0AVK6", "database": "UniProtKB" } ], "authors": "Leone G., Schulte-Merker S., Bakker W.J., Cornelissen P.W., Kent L., Liang K.H., Paciejewska M., Schaftenaar F.H., Scheele C.L., Weijts B.G., Westendorp B., de Bruin A., de Wolf C.A.", "date": "2012" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/29485866", "type": [ "PubMed" ], "id": "29485866" } ], "title": "O-GlcNAc Transferase Recognizes Protein Substrates Using an Asparagine Ladder in the Tetratricopeptide Repeat (TPR) Superhelix.", "journal": "Journal of the American Chemical Society", "evidence": [ { "url": "https://data.glygen.org/GLYDS000517", "id": "GLYDS000517", "database": "GlyGen" } ], "authors": "Levine ZG, Fan C, Melicher MS, Orman M, Benjamin T, Walker S", "date": "2018" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/31471336", "type": [ "PubMed" ], "id": "31471336" } ], "title": "Knockdown of E2F8 Suppresses Cell Proliferation in Colon Cancer Cells by Modulating the NF-kappaB Pathway.", "journal": "Annals of clinical and laboratory science", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243300.1", "id": "NP_001243300.1", "database": "RefSeq" } ], "authors": "Yan PY, Zhang XA", "date": "2019" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/31733123", "type": [ "PubMed" ], "id": "31733123" } ], "title": "RNA-binding protein NONO promotes breast cancer proliferation by post-transcriptional regulation of SKP2 and E2F8.", "journal": "Cancer science", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243300.1", "id": "NP_001243300.1", "database": "RefSeq" } ], "authors": "Iino K, Mitobe Y, Ikeda K, Takayama KI, Suzuki T, Kawabata H, Suzuki Y, Horie-Inoue K, Inoue S", "date": "2020" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/31929759", "type": [ "PubMed" ], "id": "31929759" } ], "title": "E2F8 regulates the proliferation and invasion through epithelial-mesenchymal transition in cervical cancer.", "journal": "International journal of biological sciences", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243300.1", "id": "NP_001243300.1", "database": "RefSeq" } ], "authors": "Kim LK, Park SA, Eoh KJ, Heo TH, Kim YT, Kim HJ", "date": "2020" } ], "uniprot_ac": "A0AVK6", "site_annotation": [ { "end_pos": 189, "annotation": "n_glycosylation_sequon", "start_pos": 187 }, { "end_pos": 355, "annotation": "n_glycosylation_sequon", "start_pos": 353 }, { "end_pos": 392, "annotation": "n_glycosylation_sequon", "start_pos": 390 }, { "end_pos": 570, "annotation": "n_glycosylation_sequon", "start_pos": 568 }, { "end_pos": 630, "annotation": "n_glycosylation_sequon", "start_pos": 628 }, { "end_pos": 661, "annotation": "n_glycosylation_sequon", "start_pos": 659 }, { "end_pos": 737, "annotation": "n_glycosylation_sequon", "start_pos": 735 }, { "end_pos": 847, "annotation": "n_glycosylation_sequon", "start_pos": 845 }, { "end_pos": 88, "annotation": "n_glycosylation_sequon", "start_pos": 86 } ], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A0AVK6#A0AVK6-1", "isoform_ac": "A0AVK6-1", "locus": { "end_pos": 19224661, "strand": "+", "start_pos": 19240121, "chromosome": "11", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000527884", "id": "ENST00000527884", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000434199", "id": "ENSP00000434199", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A0AVK6-1|E2F8_HUMAN Isoform 1 of Transcription factor E2F8 OS=Homo sapiens OX=9606 GN=E2F8 PE=1 SV=1 CANONICAL=A0AVK6-1", "length": 867, "sequence": "MENEKENLFCEPHKRGLMKTPLKESTTANIVLAEIQPDFGPLTTPTKPKEGSQGEPWTPTANLKMLISAVSPEIRNRDQKRGLFDNRSGLPEAKDCIHEHLSGDEFEKSQPSRKEKSLGLLCHKFLARYPNYPNPAVNNDICLDEVAEELNVERRRIYDIVNVLESLHMVSRLAKNRYTWHGRHNLNKTLGTLKSIGEENKYAEQIMMIKKKEYEQEFDFIKSYSIEDHIIKSNTGPNGHPDMCFVELPGVEFRAASVNSRKDKSLRVMSQKFVMLFLVSTPQIVSLEVAAKILIGEDHVEDLDKSKFKTKIRRLYDIANVLSSLDLIKKVHVTEERGRKPAFKWTGPEISPNTSGSSPVIHFTPSDLEVRRSSKENCAKNLFSTRGKPNFTRHPSLIKLVKSIESDRRKINSAPSSPIKTNKAESSQNSAPFPSKMAQLAAICKMQLEEQSSESRQKVKVQLARSGPCKPVAPLDPPVNAEMELTAPSLIQPLGMVPLIPSPLSSAVPLILPQAPSGPSYAIYLQPTQAHQSVTPPQGLSPTVCTTHSSKATGSKDSTDATTEKAANDTSKASASTRPGSLLPAPERQGAKSRTREPAGERGSKRASMLEDSGSKKKFKEDLKGLENVSATLFPSGYLIPLTQCSSLGAESILSGKENSSALSPNHRIYSSPIAGVIPVTSSELTAVNFPSFHVTPLKLMVSPTSVAAVPVGNSPALASSHPVPIQNPSSAIVNFTLQHLGLISPNVQLSASPGSGIVPVSPRIESVNVAPENAGTQQGRATNYDSPVPGQSQPNGQSVAVTGAQQPVPVTPKGSQLVAESFFRTPGGPTKPTSSSCMDFEGANKTSLGTLFVPQRKLEVSTEDVH" } }, { "url": "https://www.uniprot.org/uniprot/A0AVK6#E9PMT9-1", "isoform_ac": "E9PMT9-1", "locus": { "end_pos": 19237348, "strand": "+", "start_pos": 19240121, "chromosome": "11", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000532666", "id": "ENST00000532666", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000437326", "id": "ENSP00000437326", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|E9PMT9-1|E2F8_HUMAN Computationally mapped isoform of Transcription factor E2F8 OS=Homo sapiens OX=9606 GN=E2F8 PE=1 SV=1 CANONICAL=A0AVK6-1", "length": 139, "sequence": "MENEKENLFCEPHKRGLMKTPLKESTTANIVLAEIQPDFGPLTTPTKPKEGSQGEPWTPTANLKMLISAVSPEIRNRDQKRGLFDNRSGLPEAKDCIHEHLSGDEFEKSQPSRKEKSLGLLCHKFLARYPNYPNPAVNN" } } ], "pathway": [ { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:79733", "resource": "KEGG Pathway", "id": "hsa:79733", "name": "" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6804116", "resource": "Reactome", "id": "R-HSA-6804116", "name": "TP53 Regulates Transcription of Genes Involved in G1 Cell Cycle Arrest" } ], "function": [ { "url": "https://www.uniprot.org/uniprot/A0AVK6#function", "annotation": "Atypical E2F transcription factor that participates in various processes such as angiogenesis and polyploidization of specialized cells. Mainly acts as a transcription repressor that binds DNA independently of DP proteins and specifically recognizes the E2 recognition site 5'-TTTC[CG]CGC-3'. Directly represses transcription of classical E2F transcription factors such as E2F1: component of a feedback loop in S phase by repressing the expression of E2F1, thereby preventing p53/TP53-dependent apoptosis. Plays a key role in polyploidization of cells in placenta and liver by regulating the endocycle, probably by repressing genes promoting cytokinesis and antagonizing action of classical E2F proteins (E2F1, E2F2 and/or E2F3). Required for placental development by promoting polyploidization of trophoblast giant cells. Acts as a promoter of sprouting angiogenesis, possibly by acting as a transcription activator: associates with HIF1A, recognizes and binds the VEGFA promoter, which is different from canonical E2 recognition site, and activates expression of the VEGFA gene.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0AVK6#function", "id": "A0AVK6", "database": "UniProtKB" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243300.1", "annotation": "E2F7 and E2F8 act upstream of E2F1, and influence the ability of cells to undergo a DNA-damage response.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243300.1", "id": "NP_001243300.1", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243300.1", "annotation": "E2F8 may have an important role in repressing the expression of E2F-target genes in the S-phase of the cell cycle. Publication Status: Online-Only", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243300.1", "id": "NP_001243300.1", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243300.1", "annotation": "E2F8 regulates the proliferation and invasion through epithelial-mesenchymal transition in cervical cancer. Publication Status: Online-Only", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243300.1", "id": "NP_001243300.1", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243300.1", "annotation": "NONO post-transcriptionally regulates the expression of cell proliferation-related genes by binding to their mRNAs, as exemplified by S-phase-associated kinase 2 and E2F transcription factor 8.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243300.1", "id": "NP_001243300.1", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243300.1", "annotation": "The similarities between E2F-7 and E2F-8 define a new subgroup of the E2F family, and further imply that E2F-7 and E2F-8 may act through overlapping mechanisms in mediating cell cycle control.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243300.1", "id": "NP_001243300.1", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243300.1", "annotation": "These results demonstrate that E2F8 modulates the growth of human colon cancer cells through promoting the NF-kappaB pathway.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243300.1", "id": "NP_001243300.1", "database": "RefSeq" } ] } ], "orthologs": [ { "uniprot_canonical_ac": "Q58FA4-1", "protein_name": "Transcription factor E2F8", "sequence": { "length": 860, "sequence": "MENQKENLFSEPHKRGLMKSPLHPSSKANMVLAEIQPDLGPLTTPTKPKEVSQGEPWTPTANLKMLISAVSPEIRSRDQKRGLSDNRSALPEARDCLHEHLSGDEFEKSQPSRKEKSLGLLCHKFLARYPKYPNPAVNNDICLDEVAEELNVERRRIYDIVNVLESLHMVSRLAKNRYTWHGRHNLTKTLGTLKSVGEENKYAEQIMMIKRKEYEQEFDFIKSCGIEDHVIKSHTGQNGHSDMCFVELPGVEFRAASVNSRKDKSLRVMSQKFVMLFLVSTPQIVSLEIAAKILIGEDHVEDLDKSKYKTKIRRLYDIANVLSSLDLIKKVHVTEERGRKPAFKWTGPEISPNNSGSSPIMPLPASLEAEQSAKENCAKNLFSTRGKPSFTRHPSLIKLVKSIENDRRKISSAPSSPVKSNKAESSQNSPPVPNKMAQLAAICKMQLEEQSSEPRKKVKVNLARSGHYKPLAPLDPTVNTELELLTPSLIQPLGVVPLIPSPLSSAVPVILPQAPSGPSYAIYLQPAQAQMLTPPPGLSPTVCPTQPSNATGSKDPTDAPAEKTATDAATTGSLQPAPERHGAKHRSKETTGDRGTKRMITAEDSGPSSVKKPKEDLKALENVPTPTPLFPSGYLIPLTQCSSLGPDSVLSNTENSGTPSPNHRIYGSPIAGVIPVASSELTAVNFPPFHVTPLKLMVSPTSMAAVPVGNSPALNSGHPAPAQNPSSAIVNFTLQHLGLISPGVQMSASPGPGAGTVPVSPRVEADNLSSRQRRATNHDSPVLGQSQLNGQPVAGTGAQQPVPVTPKGSQLVAENFFRTPGGPTKPTSSPYTDFDGANKTSFGTLFVPQRKLEVSTEDIH" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/11654", "id": "11654", "database": "MGI" }, { "url": "https://omabrowser.org/oma/group/A0AVK6/", "id": "A0AVK6", "database": "OMA" } ], "common_name": "Mouse", "organism": "Mus musculus", "gene_name": "E2f8", "tax_id": 10090 } ], "interactions": [], "synthesized_glycans": [], "snv": [ { "sequence_org": "D", "start_pos": 159, "alt_nt": "T", "chr_id": "11", "ref_nt": "C", "chr_pos": "19256582", "disease": [ { "synonyms": [ { "id": "DOID:1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "tumor of the Brain", "description": "" } ], "recommended_name": { "id": "DOID:1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." } }, { "synonyms": [ { "id": "DOID:11054", "url": "http://disease-ontology.org/term/DOID:11054", "resource": "Disease Ontology", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "url": "http://disease-ontology.org/term/DOID:11054", "resource": "Disease Ontology", "name": "tumor of the bladder", "description": "" } ], "recommended_name": { "id": "DOID:11054", "url": "http://disease-ontology.org/term/DOID:11054", "resource": "Disease Ontology", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." } }, { "synonyms": [ { "id": "DOID:363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "uterus neoplasm", "description": "" } ], "recommended_name": { "id": "DOID:363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0AVK6", "id": "A0AVK6", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "0.1", "sequence_mut": "N", "subjects_tested": "678", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3). 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In dbSNP: rs755274793.", "end_pos": 281, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "P", "start_pos": 56, "alt_nt": "A", "chr_id": "11", "ref_nt": "G", "chr_pos": "19259528", "disease": [ { "synonyms": [ { "id": "DOID:11054", "url": "http://disease-ontology.org/term/DOID:11054", "resource": "Disease Ontology", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "url": "http://disease-ontology.org/term/DOID:11054", "resource": "Disease Ontology", "name": "tumor of the bladder", "description": "" } ], "recommended_name": { "id": "DOID:11054", "url": "http://disease-ontology.org/term/DOID:11054", "resource": "Disease Ontology", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." } }, { "synonyms": [ { "id": "DOID:363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "uterus neoplasm", "description": "" } ], "recommended_name": { "id": "DOID:363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." } }, { "synonyms": [ { "id": "DOID:10534", "url": "http://disease-ontology.org/term/DOID:10534", "resource": "Disease Ontology", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "url": "http://disease-ontology.org/term/DOID:10534", "resource": "Disease Ontology", "name": "gastric neoplasm", "description": "" } ], "recommended_name": { "id": "DOID:10534", "url": "http://disease-ontology.org/term/DOID:10534", "resource": "Disease Ontology", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0AVK6", "id": "A0AVK6", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "0.1", "sequence_mut": "L", "subjects_tested": "742", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "end_pos": 56, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "T", "start_pos": 803, "alt_nt": "A", "chr_id": "11", "ref_nt": "G", "chr_pos": "19246781", "disease": [ { "synonyms": [ { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid neoplasm", "description": "" } ], "recommended_name": { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid gland cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0AVK6", "id": "A0AVK6", "database": "BioMuta" } ], "glycoeffect": [ "o-glyco-site-loss" ], "frequency": "2.0", "sequence_mut": "I", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%).", "end_pos": 803, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "E", "start_pos": 821, "alt_nt": "A", "chr_id": "11", "ref_nt": "C", "chr_pos": "19246348", "disease": [ { "synonyms": [ { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid neoplasm", "description": "" } ], "recommended_name": { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid gland cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0AVK6", "id": "A0AVK6", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "2.0", "sequence_mut": "*", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%).", "end_pos": 821, "minor_allelic_frequency": "", "subjects_positive": "1" } ], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "refseq": { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243300.1", "ac": "NP_001243300.1", "name": "transcription factor E2F8", "summary": "This gene encodes a member of a family of transcription factors which regulate the expression of genes required for progression through the cell cycle. The encoded protein regulates progression from G1 to S phase by ensuring the nucleus divides at the proper time. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jan 2012]." }, "go_annotation": { "categories": [ { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "pmid": "21873635", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0AVK6", "id": "A0AVK6", "database": "UniProtKB" } ], "name": "DNA binding", "id": "GO:0003677" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "pmid": "22903062", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0AVK6", "id": "A0AVK6", "database": "UniProtKB" } ], "name": "DNA-binding transcription factor activity", "id": "GO:0003700" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008134", "pmid": "21873635", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0AVK6", "id": "A0AVK6", "database": "UniProtKB" } ], "name": "transcription factor binding", "id": "GO:0008134" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001227", "pmid": "16179649", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0AVK6", "id": "A0AVK6", 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