{ "uniprot_canonical_ac": "O75461-1", "uniprot_ac": "O75461", "uniprot_id": "E2F6_HUMAN", "mass": { "chemical_mass": 31844.0, "monoisotopic_mass": 31844.0 }, "refseq": { "ac": "NP_001265204", "name": "transcription factor E2F6 isoform 2", "summary": "This gene encodes a member of a family of transcription factors that play a crucial role in the control of the cell cycle. The protein encoded by this gene lacks the transactivation and tumor suppressor protein association domains found in other family members, and contains a modular suppression domain that functions in the inhibition of transcription. It interacts in a complex with chromatin modifying factors. There are pseudogenes for this gene on chromosomes 22 and X. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265204" }, "gene_names": [ { "name": "E2F6", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O75461", "id": "O75461" }, { "name": "E2F-6", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265204", "id": "NP_001265204" }, { "name": "E2F6", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265204", "id": "NP_001265204" } ], "protein_names": [ { "name": "Transcription factor E2F6", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O75461" }, { "name": "E2F-6", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75461" }, { "name": "transcription factor E2F6 isoform 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265204", "id": "NP_001265204" }, { "name": "transcription factor E2F6", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265204", "id": "NP_001265204" } ], "function": [ { "annotation": "A hsa_circ_001726 axis regulated by E2F6 contributes to metastasis of hepatocellular carcinoma. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001265204", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265204" }, { "database": "PubMed", "id": "38166853", "url": "https://glygen.org/publication/PubMed/38166853" } ] }, { "annotation": "Contains nine exons distributed along 20.4kbp of genomic DNA on chromosome 2 leading to the transcription of six alternatively spliced E2F6 mRNAs that encode four different E2F6 proteins", "evidence": [ { "database": "RefSeq", "id": "NP_001265204", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265204" }, { "database": "PubMed", "id": "15081404", "url": "https://glygen.org/publication/PubMed/15081404" } ] }, { "annotation": "Data suggest that E2F- and Myc-responsive genes are coregulated by E2F6 complex in quiescent cells", "evidence": [ { "database": "RefSeq", "id": "NP_001265204", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265204" }, { "database": "PubMed", "id": "12004135", "url": "https://glygen.org/publication/PubMed/12004135" } ] }, { "annotation": "Inhibitor of E2F-dependent transcription (PubMed:9689056, PubMed:9704927, PubMed:9501179). Binds DNA cooperatively with DP proteins through the E2 recognition site, 5'-TTTC[CG]CGC-3' (PubMed:9501179). Has a preference for the 5'-TTTCCCGC-3' E2F recognition site (PubMed:9501179). E2F6 lacks the transcriptional activation and pocket protein binding domains (PubMed:9704927, PubMed:9501179). Appears to regulate a subset of E2F-dependent genes whose products are required for entry into the cell cycle but not for normal cell cycle progression (PubMed:9689056, PubMed:9501179). Represses expression of some meiosis-specific genes, including SLC25A31/ANT4 (By similarity). May silence expression via the recruitment of a chromatin remodeling complex containing histone H3-K9 methyltransferase activity. Overexpression delays the exit of cells from the S-phase (PubMed:9501179).", "evidence": [ { "database": "UniProtKB", "id": "O75461", "url": "https://www.uniprot.org/uniprot/O75461#function" }, { "database": "PubMed", "id": "9704927", "url": "https://glygen.org/publication/PubMed/9704927" }, { "database": "PubMed", "id": "9501179", "url": "https://glygen.org/publication/PubMed/9501179" }, { "database": "UniProtKB", "id": "O54917", "url": "https://www.uniprot.org/uniprot/O54917#function" }, { "database": "PubMed", "id": "9689056", "url": "https://glygen.org/publication/PubMed/9689056" } ] }, { "annotation": "LncRNA ENST00000585827 Contributes to the Progression of Endometrial Carcinoma via Regulating miR-424/E2F6/E2F7 Axis.", "evidence": [ { "database": "RefSeq", "id": "NP_001265204", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265204" }, { "database": "PubMed", "id": "36525235", "url": "https://glygen.org/publication/PubMed/36525235" } ] }, { "annotation": "Results suggest that E2F6 represses transcription of the brca1, ctip, art27, hp1alpha, and the rbap48 genes and depletion of E2F6 resulted in the recruitment of E2F1 to the target promoters", "evidence": [ { "database": "RefSeq", "id": "NP_001265204", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265204" }, { "database": "PubMed", "id": "12909625", "url": "https://glygen.org/publication/PubMed/12909625" } ] }, { "annotation": "The E2F6 Transcription Factor is Associated with the Mammalian SUZ12-Containing Polycomb Complex.", "evidence": [ { "database": "RefSeq", "id": "NP_001265204", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265204" }, { "database": "PubMed", "id": "36464274", "url": "https://glygen.org/publication/PubMed/36464274" } ] }, { "annotation": "This gene encodes a member of a family of transcription factors that play a crucial role in the control of the cell cycle. The protein encoded by this gene lacks the transactivation and tumor suppressor protein association domains found in other family members, and contains a modular suppression domain that functions in the inhibition of transcription. It interacts in a complex with chromatin modifying factors. There are pseudogenes for this gene on chromosomes 22 and X. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013].", "evidence": [ { "database": "RefSeq", "id": "NP_001265204", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265204" } ] } ], "disease": [], "snv": [], "mutagenesis": [ { "start_pos": 68, "end_pos": 68, "sequence_org": "L", "sequence_mut": "E", "comment": "Reduction in repressor activity, little effect on S-phase entry.", "evidence": [ { "database": "UniProtKB", "id": "O75461", "url": "https://www.uniprot.org/uniprot/O75461" }, { "database": "PubMed", "id": "9689056", "url": "https://glygen.org/publication/PubMed/9689056" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "83.48", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000169016", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000169016" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "77.84", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000169016", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000169016" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "85.75", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000169016", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000169016" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "82.11", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000169016", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000169016" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "85.36", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000169016", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000169016" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "83.64", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000169016", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000169016" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "82.37", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000169016", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000169016" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "83.9", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000169016", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000169016" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "83.94", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000169016", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000169016" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O75461", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75461" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O75461", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75461" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", 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"description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O75461", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75461" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary 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"https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O75461", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75461" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75461" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine 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CANONICAL=O75461-1" }, "locus": { "chromosome": "2", "start_pos": 11465879, "end_pos": 11455473, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000437573.5", "url": "https://www.ensembl.org/id/ENST00000437573.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000406891.1", "url": "https://www.ensembl.org/id/ENSP00000406891.1" } ] } }, { "isoform_ac": "F8WEZ5-1", "url": "", "sequence": { "sequence": "MSQQRPARKLPSLLLDPTEETVRRRCRDPINVEGLLPSKIRINLEDNVQYVSMRNLLPGVFLT", "length": 63, "header": "tr|F8WEZ5-1|F8WEZ5_HUMAN Computationally mapped isoform of E2F transcription factor 6 OS=Homo sapiens OX=9606 GN=E2F6 PE=1 SV=1 CANONICAL=O75461-1" }, "locus": { "chromosome": "2", "start_pos": 11465879, "end_pos": 11453697, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000428221.5", "url": "https://www.ensembl.org/id/ENST00000428221.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000407650.1", "url": "https://www.ensembl.org/id/ENSP00000407650.1" } ] } }, { "isoform_ac": "O75461-1", "url": "", "sequence": { "sequence": "MSQQRPARKLPSLLLDPTEETVRRRCRDPINVEGLLPSKIRINLEDNVQYVSMRKALKVKRPRFDVSLVYLTRKFMDLVRSAPGGILDLNKVATKLGVRKRRVYDITNVLDGIDLVEKKSKNHIRWIGSDLSNFGAVPQQKKLQEELSDLSAMEDALDELIKDCAQQLFELTDDKENERLAYVTYQDIHSIQAFHEQIVIAVKAPAETRLDVPAPREDSITVHIRSTNGPIDVYLCEVEQGQTSNKRSEGVGTSSSESTHPEGPEEEENPQQSEELLEVSN", "length": 281, "header": "sp|O75461-1|E2F6_HUMAN Isoform 1 of Transcription factor E2F6 OS=Homo sapiens OX=9606 GN=E2F6 PE=1 SV=1 CANONICAL=O75461-1" }, "locus": { "chromosome": "2", "start_pos": 11465879, "end_pos": 11446480, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000381525.8", "url": "https://www.ensembl.org/id/ENST00000381525.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000370936.3", "url": "https://www.ensembl.org/id/ENSP00000370936.3" } ] } }, { "isoform_ac": "O75461-2", "url": "", "sequence": { "sequence": "MDLVRSAPGGILDLNKVATKLGVRKRRVYDITNVLDGIDLVEKKSKNHIRWIGSDLSNFGAVPQQKKLQEELSDLSAMEDALDELIKDCAQQLFELTDDKENERLAYVTYQDIHSIQAFHEQIVIAVKAPAETRLDVPAPREDSITVHIRSTNGPIDVYLCEVEQGQTSNKRSEGVGTSSSESTHPEGPEEEENPQQSEELLEVSN", "length": 206, "header": "sp|O75461-2|E2F6_HUMAN Isoform 2 of Transcription factor E2F6 OS=Homo sapiens OX=9606 GN=E2F6 PE=1 SV=1 CANONICAL=O75461-1" }, "locus": { "chromosome": "2", "start_pos": 11453736, "end_pos": 11446480, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000542100.5", "url": "https://www.ensembl.org/id/ENST00000542100.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000446315.1", "url": "https://www.ensembl.org/id/ENSP00000446315.1" } ] } }, { "isoform_ac": "O75461-3", "url": "", "sequence": { "sequence": "MNPSPSKIRINLEDNVQYVSMRKALKVKRPRFDVSLVYLTRKFMDLVRSAPGGILDLNKVATKLGVRKRRVYDITNVLDGIDLVEKKSKNHIRWIGSDLSNFGAVPQQKKLQEELSDLSAMEDALDELIKDCAQQLFELTDDKENERLAYVTYQDIHSIQAFHEQIVIAVKAPAETRLDVPAPREDSITVHIRSTNGPIDVYLCEVEQGQTSNKRSEGVGTSSSESTHPEGPEEEENPQQSEELLEVSN", "length": 249, "header": "sp|O75461-3|E2F6_HUMAN Isoform 3 of Transcription factor E2F6 OS=Homo sapiens OX=9606 GN=E2F6 PE=1 SV=1 CANONICAL=O75461-1" }, "locus": { "chromosome": "2", "start_pos": 11458292, "end_pos": 11446480, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000307236.8", "url": "https://www.ensembl.org/id/ENST00000307236.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000302159.4", "url": "https://www.ensembl.org/id/ENSP00000302159.4" } ] } }, { "isoform_ac": "Q2Z196-1", "url": "", "sequence": { "sequence": "MSQQRPARKLPSLLLDPTEETVRRRCRDPINVEGLLKL", "length": 38, "header": "tr|Q2Z196-1|Q2Z196_HUMAN Computationally mapped isoform of Putative truncated transcription factor E2F6 OS=Homo sapiens OX=9606 GN=E2F6 PE=1 SV=1 CANONICAL=O75461-1" }, "locus": { "chromosome": "2", "start_pos": 11465879, "end_pos": 11453793, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000421117.1", "url": "https://www.ensembl.org/id/ENST00000421117.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000389113.1", "url": "https://www.ensembl.org/id/ENSP00000389113.1" } ] } }, { "isoform_ac": "Q2Z197-1", "url": "", "sequence": { "sequence": "MSQQRPARKLPSLLLDPTEETVRRRCRDPINVEGLLLFIQANLACWARLS", "length": 50, "header": "tr|Q2Z197-1|Q2Z197_HUMAN Computationally mapped isoform of Putative truncated transcription factor E2F6 OS=Homo sapiens OX=9606 GN=E2F6 PE=1 SV=1 CANONICAL=O75461-1" }, "locus": { "chromosome": "2", "start_pos": 11465879, "end_pos": 11458310, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000455198.5", "url": "https://www.ensembl.org/id/ENST00000455198.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000403449.1", "url": "https://www.ensembl.org/id/ENSP00000403449.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "O75461", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75461" }, { "id": "29485866", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29485866" } ] } ], "phosphorylation": [ { "start_pos": 184, "end_pos": 184, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O75461", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75461" }, { "database": "PubMed", "id": "35494241", "url": "" } ], "site_lbl": "Thr184" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "E2F mediates developmental and cell cycle regulation of ORC1 in Drosophila.", "journal": "The EMBO journal", "date": "1999", "authors": "Asano M, Wharton RP", "evidence": [ { "database": "Reactome", "id": "R-HSA-69205", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-69205" } ], "reference": [ { "type": "PubMed", "id": "10228158", "url": "https://glygen.org/publication/PubMed/10228158" } ] }, { "title": "CDC25A phosphatase is a target of E2F and is required for efficient E2F-induced S phase.", "journal": "Molecular and cellular biology", "date": "1999", "authors": "Vigo E, Muller H, Prosperini E, Hateboer G, Cartwright P, Moroni MC, Helin K", "evidence": [ { "database": "Reactome", "id": "R-HSA-69205", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-69205" } ], "reference": [ { "type": "PubMed", "id": "10454584", "url": "https://glygen.org/publication/PubMed/10454584" } ] }, { "title": "Association of Pur alpha and E2F-1 suppresses transcriptional activity of E2F-1.", "journal": "Oncogene", "date": "1999", "authors": "Darbinian N, Gallia GL, Kundu M, Shcherbik N, Tretiakova A, Giordano A, Khalili K", "evidence": [ { "database": "Reactome", "id": "R-HSA-69205", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-69205" } ], "reference": [ { "type": "PubMed", "id": "10597240", "url": "https://glygen.org/publication/PubMed/10597240" } ] }, { "title": "Cdk2-dependent and -independent pathways in E2F-mediated S phase induction.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Arata Y, Fujita M, Ohtani K, Kijima S, Kato JY", "evidence": [ { "database": "Reactome", "id": "R-HSA-69205", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-69205" } ], "reference": [ { "type": "PubMed", "id": "10692433", "url": "https://glygen.org/publication/PubMed/10692433" } ] }, { "title": "The E2F6 transcription factor is a component of the mammalian Bmi1-containing polycomb complex.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2001", "authors": "Trimarchi JM, Fairchild B, Wen J, Lees JA", "evidence": [ { "database": "Reactome", "id": "R-HSA-8953750", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8953750" } ], "reference": [ { "type": "PubMed", "id": "11171983", "url": "https://glygen.org/publication/PubMed/11171983" } ] }, { "title": "E2F mediates cell cycle-dependent transcriptional repression in vivo by recruitment of an HDAC1/mSin3B corepressor complex.", "journal": "Genes & development", "date": "2002", "authors": "Rayman JB, Takahashi Y, Indjeian VB, Dannenberg JH, Catchpole S, Watson RJ, te Riele H, Dynlacht BD", "evidence": [ { "database": "Reactome", "id": "R-HSA-69205", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-69205" } ], "reference": [ { "type": "PubMed", "id": "11959842", "url": "https://glygen.org/publication/PubMed/11959842" } ] }, { "title": "E2F-dependent accumulation of hEmi1 regulates S phase entry by inhibiting APC(Cdh1).", "journal": "Nature cell biology", "date": "2002", "authors": "Hsu JY, Reimann JD, Sorensen CS, Lukas J, Jackson PK", "evidence": [ { "database": "Reactome", "id": "R-HSA-69205", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-69205" } ], "reference": [ { "type": "PubMed", "id": "11988738", "url": "https://glygen.org/publication/PubMed/11988738" } ] }, { "title": "A complex with chromatin modifiers that occupies E2F- and Myc-responsive genes in G0 cells.", "journal": "Science", "date": "2002", "authors": "Ogawa H, Ishiguro K, Gaubatz S, Livingston DM, Nakatani Y", "evidence": [ { "database": "UniProtKB", "id": "O75461", "url": "https://www.uniprot.org/uniprot/O75461" }, { "database": "Reactome", "id": "R-HSA-8953750", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8953750" }, { "database": "RefSeq", "id": "NP_001265204", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265204" } ], "reference": [ { "type": "PubMed", "id": "12004135", "url": "https://glygen.org/publication/PubMed/12004135" } ] }, { "title": "An E2F site in the 5'-promoter region contributes to serum-dependent up-regulation of the human proliferating cell nuclear antigen gene.", "journal": "FEBS letters", "date": "2003", "authors": "Li YY, Wang L, Lu CD", "evidence": [ { "database": "Reactome", "id": "R-HSA-69205", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-69205" } ], "reference": [ { "type": "PubMed", "id": "12782299", "url": "https://glygen.org/publication/PubMed/12782299" } ] }, { "title": "E2F6 negatively regulates BRCA1 in human cancer cells without methylation of histone H3 on lysine 9.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Oberley MJ, Inman DR, Farnham PJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-8953750", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8953750" }, { "database": "RefSeq", "id": "NP_001265204", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265204" } ], "reference": [ { "type": "PubMed", "id": "12909625", "url": "https://glygen.org/publication/PubMed/12909625" } ] }, { "title": "Regulation of Geminin and Cdt1 expression by E2F transcription factors.", "journal": "Oncogene", "date": "2004", "authors": "Yoshida K, Inoue I", "evidence": [ { "database": "Reactome", "id": "R-HSA-69205", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-69205" } ], "reference": [ { "type": "PubMed", "id": "14990995", "url": "https://glygen.org/publication/PubMed/14990995" } ] }, { "title": "Combinatorial gene control involving E2F and E Box family members.", "journal": "The EMBO journal", "date": "2004", "authors": "Giangrande PH, Zhu W, Rempel RE, Laakso N, Nevins JR", "evidence": [ { "database": "Reactome", "id": "R-HSA-69205", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-69205" } ], "reference": [ { "type": "PubMed", "id": "15014447", "url": "https://glygen.org/publication/PubMed/15014447" } ] }, { "title": "Human E2F6 is alternatively spliced to generate multiple protein isoforms.", "journal": "Biochem. Biophys. Res. Commun.", "date": "2004", "authors": "Kherrouche Z, De Launoit Y, Monte D", "evidence": [ { "database": "UniProtKB", "id": "O75461", "url": "https://www.uniprot.org/uniprot/O75461" }, { "database": "RefSeq", "id": "NP_001265204", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265204" } ], "reference": [ { "type": "PubMed", "id": "15081404", "url": "https://glygen.org/publication/PubMed/15081404" } ] }, { "title": "E2Fs link the control of G1/S and G2/M transcription.", "journal": "The EMBO journal", "date": "2004", "authors": "Zhu W, Giangrande PH, Nevins JR", "evidence": [ { "database": "Reactome", "id": "R-HSA-69205", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-69205" } ], "reference": [ { "type": "PubMed", "id": "15510213", "url": "https://glygen.org/publication/PubMed/15510213" } ] }, { "title": "A novel repressive E2F6 complex containing the polycomb group protein, EPC1, that interacts with EZH2 in a proliferation-specific manner.", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Attwooll C, Oddi S, Cartwright P, Prosperini E, Agger K, Steensgaard P, Wagener C, Sardet C, Moroni MC, Helin K", "evidence": [ { "database": "Reactome", "id": "R-HSA-8953750", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8953750" } ], "reference": [ { "type": "PubMed", "id": "15536069", "url": "https://glygen.org/publication/PubMed/15536069" } ] }, { "title": "Physical association and coordinate function of the H3 K4 methyltransferase MLL1 and the H4 K16 acetyltransferase MOF.", "journal": "Cell", "date": "2005", "authors": "Dou Y, Milne TA, Tackett AJ, Smith ER, Fukuda A, Wysocka J, Allis CD, Chait BT, Hess JL, Roeder RG", "evidence": [ { "database": "UniProtKB", "id": "O75461", "url": "https://www.uniprot.org/uniprot/O75461" } ], "reference": [ { "type": "PubMed", "id": "15960975", "url": "https://glygen.org/publication/PubMed/15960975" } ] }, { "title": "PHC3, a component of the hPRC-H complex, associates with E2F6 during G0 and is lost in osteosarcoma tumors.", "journal": "Oncogene", "date": "2007", "authors": "Deshpande AM, Akunowicz JD, Reveles XT, Patel BB, Saria EA, Gorlick RG, Naylor SL, Leach RJ, Hansen MF", "evidence": [ { "database": "Reactome", "id": "R-HSA-8953750", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8953750" } ], "reference": [ { "type": "PubMed", "id": "17001316", "url": "https://glygen.org/publication/PubMed/17001316" } ] }, { "title": "E2F-6 suppresses growth-associated apoptosis of human hematopoietic progenitor cells by counteracting proapoptotic activity of E2F-1.", "journal": "Stem cells (Dayton, Ohio)", "date": "2007", "authors": "Kikuchi J, Shimizu R, Wada T, Ando H, Nakamura M, Ozawa K, Furukawa Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-8953750", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8953750" } ], "reference": [ { "type": "PubMed", "id": "17600109", "url": "https://glygen.org/publication/PubMed/17600109" } ] }, { "title": "E2F6 inhibits cobalt chloride-mimetic hypoxia-induced apoptosis through E2F1.", "journal": "Molecular biology of the cell", "date": "2008", "authors": "Yang WW, Shu B, Zhu Y, Yang HT", "evidence": [ { "database": "Reactome", "id": "R-HSA-8953750", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8953750" } ], "reference": [ { "type": "PubMed", "id": "18562691", "url": "https://glygen.org/publication/PubMed/18562691" } ] }, { "title": "L3MBTL2 protein acts in concert with PcG protein-mediated monoubiquitination of H2A to establish a repressive chromatin structure.", "journal": "Molecular cell", "date": "2011", "authors": "Trojer P, Cao AR, Gao Z, Li Y, Zhang J, Xu X, Li G, Losson R, Erdjument-Bromage H, Tempst P, Farnham PJ, Reinberg D", "evidence": [ { "database": "Reactome", "id": "R-HSA-8953750", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8953750" } ], "reference": [ { "type": "PubMed", "id": "21596310", "url": "https://glygen.org/publication/PubMed/21596310" } ] }, { "title": "Chk1 inhibits E2F6 repressor function in response to replication stress to maintain cell-cycle transcription.", "journal": "Current biology : CB", "date": "2013", "authors": "Bertoli C, Klier S, McGowan C, Wittenberg C, de Bruin RA", "evidence": [ { "database": "Reactome", "id": "R-HSA-8953750", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8953750" } ], "reference": [ { "type": "PubMed", "id": "23954429", "url": "https://glygen.org/publication/PubMed/23954429" } ] }, { "title": "Dynamic regulation of Rad51 by E2F1 and p53 in prostate cancer cells upon drug-induced DNA damage under hypoxia.", "journal": "Molecular pharmacology", "date": "2014", "authors": "Wu M, Wang X, McGregor N, Pienta KJ, Zhang J", "evidence": [ { "database": "Reactome", "id": "R-HSA-8953750", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8953750" } ], "reference": [ { "type": "PubMed", "id": "24627085", "url": "https://glygen.org/publication/PubMed/24627085" } ] }, { "title": "Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.", "journal": "Cell", "date": "2016", "authors": "Yang Xinping, Coulombe-Huntington Jasmin, Kang Shuli, Sheynkman Gloria M, Hao Tong, Richardson Aaron, Sun Song, Yang Fan, Shen Yun A, Murray Ryan R, Spirohn Kerstin, Begg Bridget E, Duran-Frigola Miquel, MacWilliams Andrew, Pevzner Samuel J, Zhong Quan, Trigg Shelly A, Tam Stanley, Ghamsari Lila, Sahni Nidhi, Yi Song, Rodriguez Maria D, Balcha Dawit, Tan Guihong, Costanzo Michael, Andrews Brenda, Boone Charles, Zhou Xianghong J, Salehi-Ashtiani Kourosh, Charloteaux Benoit, Chen Alyce A, Calderwood Michael A, Aloy Patrick, Roth Frederick P, Hill David E, Iakoucheva Lilia M, Xia Yu, Vidal Marc", "evidence": [ { "database": "UniProtKB", "id": "Q2Z196", "url": "https://www.uniprot.org/uniprot/Q2Z196" } ], "reference": [ { "type": "PubMed", "id": "26871637", "url": "https://glygen.org/publication/PubMed/26871637" } ] }, { "title": "O-GlcNAc Transferase Recognizes Protein Substrates Using an Asparagine Ladder in the Tetratricopeptide Repeat (TPR) Superhelix.", "journal": "Journal of the American Chemical Society", "date": "2018", "authors": "Levine ZG, Fan C, Melicher MS, Orman M, Benjamin T, Walker S", "evidence": [ { "database": "O-GlcNAc Database", "id": "O75461", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75461" } ], "reference": [ { "type": "PubMed", "id": "29485866", "url": "https://glygen.org/publication/PubMed/29485866" } ] }, { "title": "The E2F6 Transcription Factor is Associated with the Mammalian SUZ12-Containing Polycomb Complex.", "journal": "The Kurume medical journal", "date": "2022-12-02", "authors": "Shirahama Yuko, Yamamoto Ken", "evidence": [ { "database": "RefSeq", "id": "NP_001265204", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265204" } ], "reference": [ { "type": "PubMed", "id": "36464274", "url": "https://glygen.org/publication/PubMed/36464274" } ] }, { "title": "lncRNA ENST00000585827 Contributes to the Progression of Endometrial Carcinoma via Regulating miR-424/E2F6/E2F7 Axis.", "journal": "Applied biochemistry and biotechnology", "date": "2022-12-16", "authors": "Fang Derong, Zhang Qiang, Mu Maoling, Deng Qingfang, Wang Yun, Li Quan", "evidence": [ { "database": "RefSeq", "id": "NP_001265204", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265204" } ], "reference": [ { "type": "PubMed", "id": "36525235", "url": "https://glygen.org/publication/PubMed/36525235" } ] }, { "title": "A hsa_circ_001726 axis regulated by E2F6 contributes to metastasis of hepatocellular carcinoma.", "journal": "BMC cancer", "date": "2024-01-02", "authors": "Ai Jiaoyu, Zhang Wanlin, Deng Wensheng, Yan Likun, Zhang Lidong, Huang Zongjing, Wu Ziyi, Ai Junhua, Jiang Hai", "evidence": [ { "database": "RefSeq", "id": "NP_001265204", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265204" } ], "reference": [ { "type": "PubMed", "id": "38166853", "url": 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