{ "uniprot_canonical_ac": "O75081-1", "uniprot_ac": "O75081", "uniprot_id": "MTG16_HUMAN", "mass": { "chemical_mass": 71192.0, "monoisotopic_mass": 71192.0 }, "refseq": { "ac": "NP_005178", "name": "protein CBFA2T3 isoform 1", "summary": "This gene encodes a member of the myeloid translocation gene family which interact with DNA-bound transcription factors and recruit a range of corepressors to facilitate transcriptional repression. The t(16;21)(q24;q22) translocation is one of the less common karyotypic abnormalities in acute myeloid leukemia. The translocation produces a chimeric gene made up of the 5'-region of the runt-related transcription factor 1 gene fused to the 3'-region of this gene. This gene is also a putative breast tumor suppressor. Alternative splicing results in transcript variants. [provided by RefSeq, Nov 2010].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005178" }, "gene_names": [ { "name": "CBFA2T3", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O75081", "id": "O75081" }, { "name": "CBFA2T3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005178", "id": "NP_005178" }, { "name": "ETO2; MTG16; MTGR2; RUNX1T3; ZMYND4", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005178", "id": "NP_005178" }, { "name": "MTG16", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75081", "id": "O75081" }, { "name": "MTGR2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75081", "id": "O75081" }, { "name": "ZMYND4", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75081", "id": "O75081" } ], "protein_names": [ { "name": "Protein CBFA2T3", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O75081" }, { "name": "MTG8-related protein 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75081" }, { "name": "Myeloid translocation gene on chromosome 16 protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75081" }, { "name": "Zinc finger MYND domain-containing protein 4", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75081" }, { "name": "hMTG16", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75081" }, { "name": "myeloid translocation gene 8 and 16b; MTG8-related gene 2; zinc finger MYND domain-containing protein 4; MTG8-related protein 2; myeloid translocation gene on chromosome 16 protein; core-binding factor, runt domain, alpha subunit 2; translocated to, 3; CBFA2/RUNX1 translocation partner 3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005178", "id": "NP_005178" }, { "name": "protein CBFA2T3 isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005178", "id": "NP_005178" } ], "function": [ { "annotation": "CBFA2T3 is functional in t(8;21) acute myeloid leukemia cells, a possible RUNX1-RUNX1T1-mediated direct interference of CBFA2T3 corepressor function may be compensated by a higher threshold level of CBFA2T3 expression that is needed to drive the relapse of t(8;21) acute myeloid leukemia.", "evidence": [ { "database": "RefSeq", "id": "NP_005178", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005178" }, { "database": "PubMed", "id": "31040112", "url": "https://glygen.org/publication/PubMed/31040112" } ] }, { "annotation": "CNS erythroblastic sarcoma: a potential emerging pediatric tumor type characterized by NFIA::RUNX1T1/3 fusions. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_005178", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005178" }, { "database": "PubMed", "id": "38243303", "url": "https://glygen.org/publication/PubMed/38243303" } ] }, { "annotation": "Embryonic erythropoiesis and hemoglobin switching require transcriptional repressor ETO2 to modulate chromatin organization.", "evidence": [ { "database": "RefSeq", "id": "NP_005178", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005178" }, { "database": "PubMed", "id": "32960220", "url": "https://glygen.org/publication/PubMed/32960220" } ] }, { "annotation": "In the first pediatric leukemia case in whom AML1-MTG16 was identified, the breakpoint of MTG16 was determined, and suggested as a possible characteristic of secondary leukemia.", "evidence": [ { "database": "RefSeq", "id": "NP_005178", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005178" }, { "database": "PubMed", "id": "11999578", "url": "https://glygen.org/publication/PubMed/11999578" } ] }, { "annotation": "Isoform 2 functions as an A-kinase-anchoring protein (PubMed:11823486).", "evidence": [ { "database": "UniProtKB", "id": "O75081", "url": "https://www.uniprot.org/uniprot/O75081#function" }, { "database": "PubMed", "id": "11823486", "url": "https://glygen.org/publication/PubMed/11823486" } ] }, { "annotation": "The transcriptional corepressor CBFA2T3 inhibits all-trans-retinoic acid-induced myeloid gene expression and differentiation in acute myeloid leukemia.", "evidence": [ { "database": "RefSeq", "id": "NP_005178", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005178" }, { "database": "PubMed", "id": "32434928", "url": "https://glygen.org/publication/PubMed/32434928" } ] }, { "annotation": "These findings suggest rs13333659 in CBFA2T3 as a risk locus to modulate the decline rate of cerebrospinal fluid amyloid-beta42 peptide preceding the onset of clinical symptoms", "evidence": [ { "database": "RefSeq", "id": "NP_005178", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005178" }, { "database": "PubMed", "id": "31370031", "url": "https://glygen.org/publication/PubMed/31370031" } ] }, { "annotation": "This gene encodes a member of the myeloid translocation gene family which interact with DNA-bound transcription factors and recruit a range of corepressors to facilitate transcriptional repression. The t(16;21)(q24;q22) translocation is one of the less common karyotypic abnormalities in acute myeloid leukemia. The translocation produces a chimeric gene made up of the 5'-region of the runt-related transcription factor 1 gene fused to the 3'-region of this gene. This gene is also a putative breast tumor suppressor. Alternative splicing results in transcript variants. [provided by RefSeq, Nov 2010].", "evidence": [ { "database": "RefSeq", "id": "NP_005178", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005178" } ] }, { "annotation": "Transcriptional corepressor which facilitates transcriptional repression via its association with DNA-binding transcription factors and recruitment of other corepressors and histone-modifying enzymes (PubMed:12559562, PubMed:15203199). Can repress the expression of MMP7 in a ZBTB33-dependent manner (PubMed:23251453). Reduces the protein levels and stability of the transcriptinal regulator HIF1A; interacts with EGLN1 and promotes the HIF1A prolyl hydroxylation-dependent ubiquitination and proteasomal degradation pathway (PubMed:25974097). Contributes to inhibition of glycolysis and stimulation of mitochondrial respiration by down-regulating the expression of glycolytic genes including PFKFB3, PFKFB4, PDK1, PFKP, LDHA and HK1 which are direct targets of HIF1A (PubMed:23840896, PubMed:25974097). Regulates the proliferation and the differentiation of erythroid progenitors by repressing the expression of TAL1 target genes (By similarity). Plays a role in granulocyte differentiation (PubMed:15231665).", "evidence": [ { "database": "UniProtKB", "id": "O75081", "url": "https://www.uniprot.org/uniprot/O75081#function" }, { "database": "PubMed", "id": "23251453", "url": "https://glygen.org/publication/PubMed/23251453" }, { "database": "UniProtKB", "id": "O54972", "url": "https://www.uniprot.org/uniprot/O54972#function" }, { "database": "PubMed", "id": "12183414", "url": "https://glygen.org/publication/PubMed/12183414" }, { "database": "PubMed", "id": "23840896", "url": "https://glygen.org/publication/PubMed/23840896" }, { "database": "PubMed", "id": "15203199", "url": "https://glygen.org/publication/PubMed/15203199" }, { "database": "PubMed", "id": "25974097", "url": "https://glygen.org/publication/PubMed/25974097" }, { "database": "PubMed", "id": "16966434", "url": "https://glygen.org/publication/PubMed/16966434" }, { "database": "PubMed", "id": "15231665", "url": "https://glygen.org/publication/PubMed/15231665" }, { "database": "PubMed", "id": "12559562", "url": "https://glygen.org/publication/PubMed/12559562" } ] } ], "disease": [], "snv": [], "mutagenesis": [ { "start_pos": 494, "end_pos": 494, "sequence_org": "V", "sequence_mut": "A", "comment": "Loss of interaction with PRKAR2A.", "evidence": [ { "database": "UniProtKB", "id": "O75081", "url": "https://www.uniprot.org/uniprot/O75081" }, { "database": "PubMed", "id": "11823486", "url": "https://glygen.org/publication/PubMed/11823486" } ] }, { "start_pos": 494, "end_pos": 494, "sequence_org": "V", "sequence_mut": "P", "comment": "Loss of interaction with PRKAR2A.", "evidence": [ { "database": "UniProtKB", "id": "O75081", "url": "https://www.uniprot.org/uniprot/O75081" }, { "database": "PubMed", "id": "11823486", "url": "https://glygen.org/publication/PubMed/11823486" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "62.27", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000129993", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000129993" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "58.1", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000129993", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000129993" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "59.14", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000129993", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000129993" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "49.96", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000129993", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000129993" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "77.24", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000129993", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000129993" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "75.79", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000129993", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000129993" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "47.76", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000129993", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000129993" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "71.39", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000129993", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000129993" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "72.59", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000129993", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000129993" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "62.28", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000129993", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000129993" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "63.91", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000129993", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000129993" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "78.76", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000129993", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000129993" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "75.81", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000129993", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000129993" } ] } ], "expression_disease": [ { "significant": "No", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O75081", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75081" } ], "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, 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"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": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O75081", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75081" } ], "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", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "Yes", "trend": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O75081", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75081" } ], "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": 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"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 bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "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": "No", "trend": "down", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O75081", "url": 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This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "O75081", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75081" } ], "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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"resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "O75081", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75081" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O75081", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75081" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "O75081", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75081" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "O75081", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75081" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "O75081", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75081" } ], "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ] }, { "significant": "No", "trend": "down", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "O75081", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75081" } ], "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of 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"url": "https://www.uniprot.org/uniprot/H3BR72-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BSI4", "url": "https://www.uniprot.org/uniprot/H3BSI4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BSI4-1", "url": "https://www.uniprot.org/uniprot/H3BSI4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BU07", "url": "https://www.uniprot.org/uniprot/H3BU07", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BU07-1", "url": "https://www.uniprot.org/uniprot/H3BU07-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "J3QRB1", "url": "https://www.uniprot.org/uniprot/J3QRB1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "J3QRB1-1", "url": "https://www.uniprot.org/uniprot/J3QRB1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75081", "url": "https://www.uniprot.org/uniprot/O75081", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75081-1", "url": "https://www.uniprot.org/uniprot/O75081-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75081-2", "url": "https://www.uniprot.org/uniprot/O75081-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75081-4", "url": "https://www.uniprot.org/uniprot/O75081-4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75081-5", "url": "https://www.uniprot.org/uniprot/O75081-5", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MPASRLRDRAASSASGSTCGSMSQTHPVLESGLLASAGCSAPRGPRKGGPAPVDRKAKASAMPDSPAEVKTQPRSTPPSMPPPPPAASQGATRPPSFTPHTHREDGPATLPHGRFHGCLKWSMVCLLMNGSSHSPTAINGAPCTPNGFSNGPATSSTASLSTQHLPPACGARQLSKLKRFLTTLQQFGSDISPEIGERVRTLVLGLVNSTLTIEEFHSKLQEATNFPLRPFVIPFLKANLPLLQRELLHCARLAKQTPAQYLAQHEQLLLDASASSPIDSSELLLEVNENGKRRTPDRTKENGSDRDPLHPEHLSKRPCTLNPAQRYSPSNGPPQPTPPPHYRLEDIAMAHHFRDAYRHPDPRELRERHRPLVVPGSRQEEVIDHKLTEREWAEEWKHLNNLLNCIMDMVEKTRRSLTVLRRCQEADREELNHWARRYSDAEDTKKGPAPAAARPRSSSAGPEGPQLDVPREFLPRTLTGYVPEDIWRKAEEAVNEVKRQAMSELQKAVSDAERKAHELITTERAKMERALAEAKRQASEDALTVINQQEDSSESCWNCGRKASETCSGCNAARYCGSFCQHRDWEKHHHVCGQSLQGPTAVVADPVPGPPEAAHSLGPSLPVGAASPSEAGSAGPSRPGSPSPPGPLDTVPR", "length": 653, "header": "sp|O75081-1|MTG16_HUMAN Isoform 1 of Protein CBFA2T3 OS=Homo sapiens OX=9606 GN=CBFA2T3 PE=1 SV=2 CANONICAL=O75081-1" }, "isoforms": [ { "isoform_ac": "H3BMZ0-1", "url": "", "sequence": { "sequence": "MPDSPAEVKTQPRSTPPSMPPPPPAASQGATRPPSFTPHTHREDGPATLPHGRFHGCLKWSM", "length": 62, "header": "tr|H3BMZ0-1|H3BMZ0_HUMAN Computationally mapped isoform of CBFA2/RUNX1 partner transcriptional co-repressor 3 OS=Homo sapiens OX=9606 GN=CBFA2T3 PE=1 SV=1 CANONICAL=O75081-1" }, "locus": { "chromosome": "16", "start_pos": 88901624, "end_pos": 88898088, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000564416.1", "url": "https://www.ensembl.org/id/ENST00000564416.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000454609.1", "url": "https://www.ensembl.org/id/ENSP00000454609.1" } ] } }, { "isoform_ac": "H3BNH2-1", "url": "", "sequence": { "sequence": "MPDSPAEVKTQPRSTPPSMPPPPPAASQGATRPPSFTPHTHREDGPATLPHGRFHGCLKWSMVCLLMNGSSHSPTAINGAPCTPNGFSNGPATSSTASLSTQHLPPACGARQLSKLKRFLTTLQQFGSDISPEIGERVRTLVLGLVNSTLTIEEFHSKLQEATNFPLRPFVIPFLKANLPLLQRELLHCARLAKQTPAQYLAQHEQLLLDASASSPIDSSELLLEVNENGKRRTPDRTKENGSDRDPLHPEHLSKRPCTLNPAQRYSPSNGPPQPTPPPHYRLEDIAMAHHFRDAYRHPDPRELRERHRPLVVPGSRQEEVIDHKLTEREWAEEWKHLNNLLNCIMDMVEKTRRSLTVLRRCQEADREELNHWARRYSDAEDTKKGPAPAAARPRSSSAGPEGPQLGKHGLVCQEAWS", "length": 418, "header": "tr|H3BNH2-1|MTG16_HUMAN Computationally mapped isoform of Protein CBFA2T3 OS=Homo sapiens OX=9606 GN=CBFA2T3 PE=1 SV=8 CANONICAL=O75081-1" }, "locus": { "chromosome": "16", "start_pos": 88901624, "end_pos": 88881114, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000569464.5", "url": "https://www.ensembl.org/id/ENST00000569464.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000454851.1", "url": "https://www.ensembl.org/id/ENSP00000454851.1" } ] } }, { "isoform_ac": "H3BNI7-1", "url": "", "sequence": { "sequence": "MPASRLRDRAASSASGSTCGSMSQTHPVLESGLLASAGCSAPRGPRKGGPAPVDRKAKASAMPDSPAEVKTQPRSTPPSMPPPPPAASQGATRPPSFTPHTLMNGSSHSPTAINGAPCTPNGFSNGPATS", "length": 130, "header": "tr|H3BNI7-1|H3BNI7_HUMAN Computationally mapped isoform of CBFA2/RUNX1 partner transcriptional co-repressor 3 OS=Homo sapiens OX=9606 GN=CBFA2T3 PE=1 SV=1 CANONICAL=O75081-1" }, "locus": { "chromosome": "16", "start_pos": 88976807, "end_pos": 88892400, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000563640.1", "url": "https://www.ensembl.org/id/ENST00000563640.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000454872.1", "url": "https://www.ensembl.org/id/ENSP00000454872.1" } ] } }, { "isoform_ac": "H3BR72-1", "url": "", "sequence": { "sequence": "MPDSPAEVKTQPRSTPPSMPPP", "length": 22, "header": "tr|H3BR72-1|MTG16_HUMAN Computationally mapped isoform of Protein CBFA2T3 OS=Homo sapiens OX=9606 GN=CBFA2T3 PE=1 SV=1 CANONICAL=O75081-1" }, "locus": { "chromosome": "16", "start_pos": 88901624, "end_pos": 88901559, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000570046.1", "url": "https://www.ensembl.org/id/ENST00000570046.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000456102.1", "url": "https://www.ensembl.org/id/ENSP00000456102.1" } ] } }, { "isoform_ac": "H3BSI4-1", "url": "", "sequence": { "sequence": "MPDSPAEVKTQPRSTPPSMPPPPPAASQGATRPPSFTPHTHREDGPATLPHGRFHGCLKWSMVCLLMNGSSHSPTAINGAPCTPNGFSNGPATSSTASLSTQHLPPACGARQLSKLKRFLTTLQQFGSDISP", "length": 132, "header": "tr|H3BSI4-1|H3BSI4_HUMAN Computationally mapped isoform of CBFA2/RUNX1 partner transcriptional co-repressor 3 OS=Homo sapiens OX=9606 GN=CBFA2T3 PE=1 SV=1 CANONICAL=O75081-1" }, "locus": { "chromosome": "16", "start_pos": 88901624, "end_pos": 88892286, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000562719.5", "url": "https://www.ensembl.org/id/ENST00000562719.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000456717.1", "url": "https://www.ensembl.org/id/ENSP00000456717.1" } ] } }, { "isoform_ac": "H3BU07-1", "url": "", "sequence": { "sequence": "MPDSPAEVKTQPRSTPPSMPPPPPAASQGATRPPSFTPHTLMNGSSHSPTAINGAPCTPNGFSNGPATSSTASLSTQHLPPACGARQLSKLKRFLTTLQQFGSDISPEIGERVRTLVLGLV", "length": 121, "header": "tr|H3BU07-1|MTG16_HUMAN Computationally mapped isoform of Protein CBFA2T3 OS=Homo sapiens OX=9606 GN=CBFA2T3 PE=1 SV=1 CANONICAL=O75081-1" }, "locus": { "chromosome": "16", "start_pos": 88901624, "end_pos": 88892244, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000569443.5", "url": "https://www.ensembl.org/id/ENST00000569443.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000457410.1", "url": "https://www.ensembl.org/id/ENSP00000457410.1" } ] } }, { "isoform_ac": "J3QRB1-1", "url": "", "sequence": { "sequence": "XGPEGPQLGKHGLVCQEAWSSERLVGQRLGAGRP", "length": 34, "header": "tr|J3QRB1-1|MTG16_HUMAN Computationally mapped isoform of Protein CBFA2T3 OS=Homo sapiens OX=9606 GN=CBFA2T3 PE=1 SV=1 CANONICAL=O75081-1" }, "locus": { "chromosome": "16", "start_pos": 88881313, "end_pos": 88881070, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000566868.1", "url": "https://www.ensembl.org/id/ENST00000566868.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000464125.1", "url": "https://www.ensembl.org/id/ENSP00000464125.1" } ] } }, { "isoform_ac": "O75081-1", "url": "", "sequence": { "sequence": "MPASRLRDRAASSASGSTCGSMSQTHPVLESGLLASAGCSAPRGPRKGGPAPVDRKAKASAMPDSPAEVKTQPRSTPPSMPPPPPAASQGATRPPSFTPHTHREDGPATLPHGRFHGCLKWSMVCLLMNGSSHSPTAINGAPCTPNGFSNGPATSSTASLSTQHLPPACGARQLSKLKRFLTTLQQFGSDISPEIGERVRTLVLGLVNSTLTIEEFHSKLQEATNFPLRPFVIPFLKANLPLLQRELLHCARLAKQTPAQYLAQHEQLLLDASASSPIDSSELLLEVNENGKRRTPDRTKENGSDRDPLHPEHLSKRPCTLNPAQRYSPSNGPPQPTPPPHYRLEDIAMAHHFRDAYRHPDPRELRERHRPLVVPGSRQEEVIDHKLTEREWAEEWKHLNNLLNCIMDMVEKTRRSLTVLRRCQEADREELNHWARRYSDAEDTKKGPAPAAARPRSSSAGPEGPQLDVPREFLPRTLTGYVPEDIWRKAEEAVNEVKRQAMSELQKAVSDAERKAHELITTERAKMERALAEAKRQASEDALTVINQQEDSSESCWNCGRKASETCSGCNAARYCGSFCQHRDWEKHHHVCGQSLQGPTAVVADPVPGPPEAAHSLGPSLPVGAASPSEAGSAGPSRPGSPSPPGPLDTVPR", "length": 653, "header": "sp|O75081-1|MTG16_HUMAN Isoform 1 of Protein CBFA2T3 OS=Homo sapiens OX=9606 GN=CBFA2T3 PE=1 SV=2 CANONICAL=O75081-1" }, "locus": { "chromosome": "16", "start_pos": 88976807, "end_pos": 88876979, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000268679.9", "url": "https://www.ensembl.org/id/ENST00000268679.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000268679.4", "url": "https://www.ensembl.org/id/ENSP00000268679.4" } ] } }, { "isoform_ac": "O75081-2", "url": "", "sequence": { "sequence": "MPDSPAEVKTQPRSTPPSMPPPPPAASQGATRPPSFTPHTLMNGSSHSPTAINGAPCTPNGFSNGPATSSTASLSTQHLPPACGARQLSKLKRFLTTLQQFGSDISPEIGERVRTLVLGLVNSTLTIEEFHSKLQEATNFPLRPFVIPFLKANLPLLQRELLHCARLAKQTPAQYLAQHEQLLLDASASSPIDSSELLLEVNENGKRRTPDRTKENGSDRDPLHPEHLSKRPCTLNPAQRYSPSNGPPQPTPPPHYRLEDIAMAHHFRDAYRHPDPRELRERHRPLVVPGSRQEEVIDHKLTEREWAEEWKHLNNLLNCIMDMVEKTRRSLTVLRRCQEADREELNHWARRYSDAEDTKKGPAPAAARPRSSSAGPEGPQLDVPREFLPRTLTGYVPEDIWRKAEEAVNEVKRQAMSELQKAVSDAERKAHELITTERAKMERALAEAKRQASEDALTVINQQEDSSESCWNCGRKASETCSGCNAARYCGSFCQHRDWEKHHHVCGQSLQGPTAVVADPVPGPPEAAHSLGPSLPVGAASPSEAGSAGPSRPGSPSPPGPLDTVPR", "length": 567, "header": "sp|O75081-2|MTG16_HUMAN Isoform 2 of Protein CBFA2T3 OS=Homo sapiens OX=9606 GN=CBFA2T3 PE=1 SV=2 CANONICAL=O75081-1" }, "locus": { "chromosome": "16", "start_pos": 88901624, "end_pos": 88876979, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000327483.9", "url": "https://www.ensembl.org/id/ENST00000327483.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000332122.5", "url": "https://www.ensembl.org/id/ENSP00000332122.5" } ] } }, { "isoform_ac": "O75081-4", "url": "", "sequence": { "sequence": "MPASRLRDRAASSASGSTCGSMSQTHPVLESGLLASAGCSAPRGPRKGGPVMNGSSHSPTAINGAPCTPNGFSNGPATSSTASLSTQHLPPACGARQLSKLKRFLTTLQQFGSDISPEIGERVRTLVLGLVNSTLTIEEFHSKLQEATNFPLRPFVIPFLKANLPLLQRELLHCARLAKQTPAQYLAQHEQLLLDASASSPIDSSELLLEVNENGKRRTPDRTKENGSDRDPLHPEHLSKRPCTLNPAQRYSPSNGPPQPTPPPHYRLEDIAMAHHFRDAYRHPDPRELRERHRPLVVPGSRQEEVIDHKLTEREWAEEWKHLNNLLNCIMDMVEKTRRSLTVLRRCQEADREELNHWARRYSDAEDTKKGPAPAAARPRSSSAGPEGPQLDVPREFLPRTLTGYVPEDIWRKAEEAVNEVKRQAMSELQKAVSDAERKAHELITTERAKMERALAEAKRQASEDALTVINQQEDSSESCWNCGRKASETCSGCNAARYCGSFCQHRDWEKHHHVCGQSLQGPTAVVADPVPGPPEAAHSLGPSLPVGAASPSEAGSAGPSRPGSPSPPGPLDTVPR", "length": 577, "header": "sp|O75081-4|MTG16_HUMAN Isoform 4 of Protein CBFA2T3 OS=Homo sapiens OX=9606 GN=CBFA2T3 PE=1 SV=2 CANONICAL=O75081-1" }, "locus": {} }, { "isoform_ac": "O75081-5", "url": "", "sequence": { "sequence": "MPASRLRDRAASSASGSTCGSMSQTHPVLESGLLASAGCSAPRGPRKGGPGKPALAAAGAPALCTPGQADARPVLGPA", "length": 78, "header": "sp|O75081-5|MTG16_HUMAN Isoform 5 of Protein CBFA2T3 OS=Homo sapiens OX=9606 GN=CBFA2T3 PE=1 SV=2 CANONICAL=O75081-1" }, "locus": {} } ], "glycosylation": [], "phosphorylation": [ { "start_pos": 328, "end_pos": 328, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O75081", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75081" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ], "site_lbl": "Ser328" }, { "start_pos": 457, "end_pos": 457, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O75081", "url": "https://www.uniprot.org/uniprot/O75081" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O75081", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75081" } ], "site_lbl": "Ser457" }, { "start_pos": 459, "end_pos": 459, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O75081", "url": "https://www.uniprot.org/uniprot/O75081" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O75081", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75081" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ], "site_lbl": "Ser459" }, { "start_pos": 479, "end_pos": 479, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "O75081", "url": "https://www.uniprot.org/uniprot/O75081" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O75081", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75081" } ], "site_lbl": "Thr479" }, { "start_pos": 637, "end_pos": 637, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O75081", "url": "https://www.uniprot.org/uniprot/O75081" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "O75081", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75081" } ], "site_lbl": "Ser637" }, { "start_pos": 641, "end_pos": 641, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O75081", "url": "https://www.uniprot.org/uniprot/O75081" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "O75081", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75081" } ], "site_lbl": "Ser641" }, { "start_pos": 650, "end_pos": 650, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "O75081", "url": "https://www.uniprot.org/uniprot/O75081" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "O75081", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75081" } ], "site_lbl": "Thr650" } ], "glycation": [], "keywords": [], "publication": [ { "title": "AML1-MTG16 fusion gene in therapy-related acute leukemia with t(16;21)(q24;q22): two new cases.", "journal": "Leukemia", "date": "2000", "authors": "Salomon-Nguyen F, Busson-Le Coniat M, Lafage Pochitaloff M, Mozziconacci J, Berger R, Bernard O A", "evidence": [ { "database": "UniProtKB", "id": "O75081", "url": "https://www.uniprot.org/uniprot/O75081" } ], "reference": [ { "type": "PubMed", "id": "10995019", "url": "https://glygen.org/publication/PubMed/10995019" } ] }, { "title": "AML1/MTG16 fusion gene from a t(16;21)(q24;q22) translocation in treatment-induced leukemia after breast cancer.", "journal": "Haematologica", "date": "2001", "authors": "La Starza R, Sambani C, Crescenzi B, Matteucci C, Martelli M F, Mecucci C", "evidence": [ { "database": "UniProtKB", "id": "O75081", "url": "https://www.uniprot.org/uniprot/O75081" } ], "reference": [ { "type": "PubMed", "id": "11224496", "url": "https://glygen.org/publication/PubMed/11224496" } ] }, { "title": "ETO, a target of t(8;21) in acute leukemia, makes distinct contacts with multiple histone deacetylases and binds mSin3A through its oligomerization domain.", "journal": "Mol. Cell. Biol.", "date": "2001", "authors": "Amann J M, Nip J, Strom D K, Lutterbach B, Harada H, Lenny N, Downing J R, Meyers S, Hiebert S W", "evidence": [ { "database": "UniProtKB", "id": "O75081", "url": "https://www.uniprot.org/uniprot/O75081" } ], "reference": [ { "type": "PubMed", "id": "11533236", "url": "https://glygen.org/publication/PubMed/11533236" } ] }, { "title": "Identification and characterization of myeloid translocation gene 16b as a novel a kinase anchoring protein in T lymphocytes.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2002", "authors": "Schillace RV, Andrews SF, Liberty GA, Davey MP, Carr DW", "evidence": [ { "database": "UniProtKB", "id": "O75081", "url": "https://www.uniprot.org/uniprot/O75081" } ], "reference": [ { "type": "PubMed", "id": "11823486", "url": "https://glygen.org/publication/PubMed/11823486" } ] }, { "title": "A pediatric case of secondary leukemia associated with t(16;21)(q24;q22) exhibiting the chimeric AML1-MTG16 gene.", "journal": "Leukemia & lymphoma", "date": "2002", "authors": "Kondoh K, Nakata Y, Furuta T, Hosoda F, Gamou T, Kurosawa Y, Kinoshita A, Ohki M, Tomita Y, Mori T", "evidence": [ { "database": "RefSeq", "id": "NP_005178", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005178" } ], "reference": [ { "type": "PubMed", "id": "11999578", "url": "https://glygen.org/publication/PubMed/11999578" } ] }, { "title": "CBFA2T3 (MTG16) is a putative breast tumor suppressor gene from the breast cancer loss of heterozygosity region at 16q24.3.", "journal": "Cancer research", "date": "2002-08-15", "authors": "Kochetkova Marina, McKenzie Olivia L D, Bais Anthony J, Martin Julie M, Secker Genevieve A, Seshadri Ram, Powell Jason A, Hinze Susan J, Gardner Alison E, Spendlove Hayley E, O'Callaghan Nathan J, Cleton-Jansen Anne-Marie, Cornelisse Cees, Whitmore Scott A, Crawford Joanna, Kremmidiotis Gabriel, Sutherland Grant R, Callen David F", "evidence": [ { "database": "UniProtKB", "id": "O75081", "url": "https://www.uniprot.org/uniprot/O75081" } ], "reference": [ { "type": "PubMed", "id": "12183414", "url": "https://glygen.org/publication/PubMed/12183414" } ] }, { "title": "The transcriptional corepressor MTG16a contains a novel nucleolar targeting sequence deranged in t(16; 21)-positive myeloid malignancies.", "journal": "Oncogene", "date": "2002", "authors": "Hoogeveen Andr\u00e9 T, Rossetti Stefano, Stoyanova Violeta, Schonkeren Joris, Fenaroli Angelia, Schiaffonati Luisa, van Unen Leontine, Sacchi Nicoletta", "evidence": [ { "database": "UniProtKB", "id": "O75081", "url": "https://www.uniprot.org/uniprot/O75081" } ], "reference": [ { "type": "PubMed", "id": "12242670", "url": "https://glygen.org/publication/PubMed/12242670" } ] }, { "title": "The ETO (MTG8) gene family.", "journal": "Gene", "date": "2003-01-16", "authors": "Davis J Nathan, McGhee Laura, Meyers Shari", "evidence": [ { "database": "UniProtKB", "id": "O75081", "url": "https://www.uniprot.org/uniprot/O75081" } ], "reference": [ { "type": "PubMed", "id": "12559562", "url": "https://glygen.org/publication/PubMed/12559562" } ] }, { "title": "The MTG proteins: chromatin repression players with a passion for networking.", "journal": "Genomics", "date": "2004-07", "authors": "Rossetti Stefano, Hoogeveen Andr\u00e9 T, Sacchi Nicoletta", "evidence": [ { "database": "UniProtKB", "id": "O75081", "url": "https://www.uniprot.org/uniprot/O75081" } ], "reference": [ { "type": "PubMed", "id": "15203199", "url": "https://glygen.org/publication/PubMed/15203199" } ] }, { "title": "AML1-ETO decreases ETO-2 (MTG16) interactions with nuclear receptor corepressor, an effect that impairs granulocyte differentiation.", "journal": "Cancer research", "date": "2004", "authors": "Ibanez V, Sharma A, Buonamici S, Verma A, Kalakonda S, Wang J, Kadkol S, Saunthararajah Y", "evidence": [ { "database": "UniProtKB", "id": "O75081", "url": "https://www.uniprot.org/uniprot/O75081" } ], "reference": [ { "type": "PubMed", "id": "15231665", "url": "https://glygen.org/publication/PubMed/15231665" } ] }, { "title": "A-kinase anchoring proteins interact with phosphodiesterases in T lymphocyte cell lines.", "journal": "J. Immunol.", "date": "2004", "authors": "Asirvatham Angela L, Galligan Sarah G, Schillace Robynn V, Davey Michael P, Vasta Valeria, Beavo Joseph A, Carr Daniel W", "evidence": [ { "database": "UniProtKB", "id": "O75081", "url": "https://www.uniprot.org/uniprot/O75081" } ], "reference": [ { "type": "PubMed", "id": "15470020", "url": "https://glygen.org/publication/PubMed/15470020" } ] }, { "title": "The leukemia-associated ETO homologues are differently expressed during hematopoietic differentiation.", "journal": "Exp. Hematol.", "date": "2005", "authors": "Lindberg Sofia Rondin, Olsson Andr\u00e9, Persson Ann-Maj, Olsson Inge", "evidence": [ { "database": "UniProtKB", "id": "O75081", "url": "https://www.uniprot.org/uniprot/O75081" } ], "reference": [ { "type": "PubMed", "id": "15676213", "url": "https://glygen.org/publication/PubMed/15676213" } ] }, { "title": "The tetramer structure of the Nervy homology two domain, NHR2, is critical for AML1/ETO's activity.", "journal": "Cancer Cell", "date": "2006", "authors": "Liu Y, Cheney MD, Gaudet JJ, Chruszcz M, Lukasik SM, Sugiyama D, Lary J, Cole J, Dauter Z, Minor W, Speck NA, Bushweller JH", "evidence": [ { "database": "UniProtKB", "id": "O75081", "url": "https://www.uniprot.org/uniprot/O75081" } ], "reference": [ { "type": "PubMed", "id": "16616331", "url": "https://glygen.org/publication/PubMed/16616331" } ] }, { "title": "ErbB-4 s80 intracellular domain abrogates ETO2-dependent transcriptional repression.", "journal": "J. Biol. Chem.", "date": "2006", "authors": "Linggi Bryan, Carpenter Graham", "evidence": [ { "database": "UniProtKB", "id": "O75081", "url": "https://www.uniprot.org/uniprot/O75081" } ], "reference": [ { "type": "PubMed", "id": "16815842", "url": "https://glygen.org/publication/PubMed/16815842" } ] }, { "title": "The consensus coding sequences of human breast and colorectal cancers.", "journal": "Science (New York, N.Y.)", "date": "2006", "authors": "Sjoblom T, Jones S, Wood LD, Parsons DW, Lin J, Barber TD, Mandelker D, Leary RJ, Ptak J, Silliman N, Szabo S, Buckhaults P, Farrell C, Meeh P, Markowitz SD, Willis J, Dawson D, Willson JK, Gazdar AF, Hartigan J, Wu L, Liu C, Parmigiani G, Park BH, Bachman KE, Papadopoulos N, Vogelstein B, Kinzler KW, Velculescu VE", "evidence": [ { "database": "UniProtKB", "id": "O75081", "url": "https://www.uniprot.org/uniprot/O75081" } ], "reference": [ { "type": "PubMed", "id": "16959974", "url": "https://glygen.org/publication/PubMed/16959974" } ] }, { "title": "ZNF652, a novel zinc finger protein, interacts with the putative breast tumor suppressor CBFA2T3 to repress transcription.", "journal": "Molecular cancer research : MCR", "date": "2006", "authors": "Kumar R, Manning J, Spendlove HE, Kremmidiotis G, McKirdy R, Lee J, Millband DN, Cheney KM, Stampfer MR, Dwivedi PP, Morris HA, Callen DF", "evidence": [ { "database": "UniProtKB", "id": "O75081", "url": "https://www.uniprot.org/uniprot/O75081" } ], "reference": [ { "type": "PubMed", "id": "16966434", "url": "https://glygen.org/publication/PubMed/16966434" } ] }, { "title": "Global effects of kinase inhibitors on signaling networks revealed by quantitative phosphoproteomics.", "journal": "Molecular & cellular proteomics : MCP", "date": "2009", "authors": "Pan C, Olsen JV, Daub H, Mann M", "evidence": [ { "database": "iPTMnet", "id": "O75081-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75081-1" } ], "reference": [ { "type": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ] }, { "title": "Myeloid translocation gene 16b is a dual A-kinase anchoring protein that interacts selectively with plexins in a phospho-regulated manner.", "journal": "FEBS Lett.", "date": "2010", "authors": "Fiedler Sarah E, Schillace Robynn V, Daniels Crystal J, Andrews Sarah F, Carr Daniel W", "evidence": [ { "database": "UniProtKB", "id": "O75081", "url": "https://www.uniprot.org/uniprot/O75081" } ], "reference": [ { "type": "PubMed", "id": "20138877", "url": "https://glygen.org/publication/PubMed/20138877" } ] }, { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "O75081", "url": "https://www.uniprot.org/uniprot/O75081" }, { "database": "iPTMnet", "id": "O75081", "url": 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respiration.", "journal": "PloS one", "date": "2013", "authors": "Kumar P, Sharoyko VV, Spegel P, Gullberg U, Mulder H, Olsson I, Ajore R", "evidence": [ { "database": "UniProtKB", "id": "O75081", "url": "https://www.uniprot.org/uniprot/O75081" } ], "reference": [ { "type": "PubMed", "id": "23840896", "url": "https://glygen.org/publication/PubMed/23840896" } ] }, { "title": "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.", "journal": "Journal of proteomics", "date": "2014", "authors": "Bian Y, Song C, Cheng K, Dong M, Wang F, Huang J, Sun D, Wang L, Ye M, Zou H", "evidence": [ { "database": "UniProtKB", "id": "O75081", "url": "https://www.uniprot.org/uniprot/O75081" }, { "database": "iPTMnet", "id": "O75081", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75081" } ], "reference": [ { "type": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ] }, { "title": "Myeloid translocation gene-16 co-repressor promotes degradation of hypoxia-inducible factor 1.", "journal": "PloS one", "date": "2015", "authors": "Kumar P, Gullberg U, Olsson I, Ajore R", "evidence": [ { "database": "UniProtKB", "id": "O75081", "url": "https://www.uniprot.org/uniprot/O75081" } ], "reference": [ { "type": "PubMed", "id": "25974097", "url": "https://glygen.org/publication/PubMed/25974097" } ] }, { "title": "Myeloid translocation gene CBFA2T3 directs a relapse gene program and determines patient-specific outcomes in AML.", "journal": "Blood advances", "date": "2019", "authors": "Steinauer N, Guo C, Huang C, Wong M, Tu Y, Freter CE, Zhang J", "evidence": [ { "database": "RefSeq", "id": "NP_005178", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005178" } ], "reference": [ { "type": "PubMed", "id": "31040112", "url": "https://glygen.org/publication/PubMed/31040112" } ] }, { "title": "Genome-wide association study identifies CBFA2T3 affecting the rate of CSF Abeta42 decline in non-demented elders.", "journal": "Aging", "date": "2019", "authors": "Dou KX, Zhang C, Tan CC, Xu W, Li JQ, Cao XP, Tan L, Yu JT", "evidence": [ { "database": "RefSeq", "id": "NP_005178", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005178" } ], "reference": [ { "type": "PubMed", "id": "31370031", "url": "https://glygen.org/publication/PubMed/31370031" } ] }, { "title": "The transcriptional corepressor CBFA2T3 inhibits all-trans-retinoic acid-induced myeloid gene expression and differentiation in acute myeloid leukemia.", "journal": "The Journal of biological chemistry", "date": "2020", "authors": "Steinauer N, Guo C, Zhang J", "evidence": [ { "database": "RefSeq", "id": "NP_005178", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005178" } ], "reference": [ { "type": "PubMed", "id": "32434928", "url": "https://glygen.org/publication/PubMed/32434928" } ] }, { "title": "Embryonic erythropoiesis and hemoglobin switching require transcriptional repressor ETO2 to modulate chromatin organization.", "journal": "Nucleic acids research", "date": "2020", "authors": "Guo X, Plank-Bazinet J, Krivega I, Dale RK, Dean A", "evidence": [ { "database": "RefSeq", "id": "NP_005178", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005178" } ], "reference": [ { "type": "PubMed", "id": "32960220", "url": "https://glygen.org/publication/PubMed/32960220" } ] }, { "title": "CNS erythroblastic sarcoma: a potential emerging pediatric tumor type characterized by NFIA::RUNX1T1/3 fusions.", "journal": "Acta neuropathologica communications", "date": "2024-01-19", "authors": "Tauzi\u00e8de-Espariat Arnault, Lew-Derivry Lucille, Abbou Samuel, M\u00e9tais Alice, Pierron Ga\u00eblle, Reynaud St\u00e9phanie, Masliah-Planchon Julien, Mariet Cassandra, Hasty Lauren, Dangouloff-Ros Volodia, Boddaert Nathalie, Csanyi Marie, Aline-Fardin Aude, Lamaison Claire, Chr\u00e9tien Fabrice, Beccaria K\u00e9vin, Puget St\u00e9phanie, Varlet Pascale", "evidence": [ { "database": "RefSeq", "id": "NP_005178", "url": 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