{ "uniprot_canonical_ac": "O43439-1", "uniprot_ac": "O43439", "uniprot_id": "MTG8R_HUMAN", "mass": { "chemical_mass": 67133.0, "monoisotopic_mass": 67133.0 }, "refseq": { "ac": "NP_001028171", "name": "protein CBFA2T2 isoform MTGR1c", "summary": "In acute myeloid leukemia, especially in the M2 subtype, the t(8;21)(q22;q22) translocation is one of the most frequent karyotypic abnormalities. The translocation produces a chimeric gene made up of the 5'-region of the RUNX1 (AML1) gene fused to the 3'-region of the CBFA2T1 (MTG8) gene. The chimeric protein is thought to associate with the nuclear corepressor/histone deacetylase complex to block hematopoietic differentiation. The protein encoded by this gene binds to the AML1-MTG8 complex and may be important in promoting leukemogenesis. Several transcript variants are thought to exist for this gene, but the full-length natures of only three have been described. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001028171" }, "gene_names": [ { "name": "CBFA2T2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O43439", "id": "O43439" }, { "name": "CBFA2T2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001028171", "id": "NP_001028171" }, { "name": "DKFZp313F2116", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O43439", "id": "O43439" }, { "name": "EHT; MTGR1; p85; ZMYND3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001028171", "id": "NP_001028171" }, { "name": "EHT", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O43439", "id": "O43439" }, { "name": "MTGR1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O43439", "id": "O43439" } ], "protein_names": [ { "name": "Protein CBFA2T2", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O43439" }, { "name": "ETO homologous on chromosome 20", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43439" }, { "name": "MTG8-like protein; ETO homolog on chromosome 20; protein CBFA2T2; myeloid translocation gene-related protein 1; MTG8-related protein 1; ETO homologous on chromosome 20; myeloid translocation-related protein 1; core-binding factor, runt domain, alpha subunit 2; translocated to, 2; CBFA2/RUNX1 translocation partner 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001028171", "id": "NP_001028171" }, { "name": "MTG8-like protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43439" }, { "name": "MTG8-related protein 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43439" }, { "name": "Myeloid translocation-related protein 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43439" }, { "name": "p85", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43439" }, { "name": "protein CBFA2T2 isoform MTGR1c", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001028171", "id": "NP_001028171" } ], "function": [ { "annotation": "CBFA2T2 forms a biochemical complex with PRDM14, a germline-specific transcription factor; mechanistically, CBFA2T2 oligomerizes to form a scaffold upon which PRDM14 and OCT4 are stabilized on chromatin", "evidence": [ { "database": "RefSeq", "id": "NP_001028171", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001028171" }, { "database": "PubMed", "id": "27281218", "url": "https://glygen.org/publication/PubMed/27281218" } ] }, { "annotation": "CBFA2T2 promotes adipogenic differentiation of mesenchymal stem cells by regulating CEBPA.", "evidence": [ { "database": "RefSeq", "id": "NP_001028171", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001028171" }, { "database": "PubMed", "id": "32703401", "url": "https://glygen.org/publication/PubMed/32703401" } ] }, { "annotation": "In acute myeloid leukemia, especially in the M2 subtype, the t(8;21)(q22;q22) translocation is one of the most frequent karyotypic abnormalities. The translocation produces a chimeric gene made up of the 5'-region of the RUNX1 (AML1) gene fused to the 3'-region of the CBFA2T1 (MTG8) gene. The chimeric protein is thought to associate with the nuclear corepressor/histone deacetylase complex to block hematopoietic differentiation. The protein encoded by this gene binds to the AML1-MTG8 complex and may be important in promoting leukemogenesis. Several transcript variants are thought to exist for this gene, but the full-length natures of only three have been described. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_001028171", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001028171" } ] }, { "annotation": "In human colorectal cancer (CRC) samples MTGR1 was downregulated at both the transcript and protein level. Overall data indicates that MTGR1 has a context-dependent effect on intestinal tumorigenesis.", "evidence": [ { "database": "RefSeq", "id": "NP_001028171", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001028171" }, { "database": "PubMed", "id": "27270437", "url": "https://glygen.org/publication/PubMed/27270437" } ] }, { "annotation": "The MTGR1 gene depends on a GC-box-rich sequence for transcriptional regulation and possible ubiquitous expression. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001028171", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001028171" }, { "database": "PubMed", "id": "22443175", "url": "https://glygen.org/publication/PubMed/22443175" } ] }, { "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). Via association with PRDM14 is involved in regulation of embryonic stem cell (ESC) pluripotency (PubMed:27281218). Involved in primordial germ cell (PCG) formation. Stabilizes PRDM14 and OCT4 on chromatin in a homooligomerization-dependent manner (By similarity). Can repress the expression of MMP7 in a ZBTB33-dependent manner (PubMed:23251453). May function as a complex with the chimeric protein RUNX1/AML1-CBFA2T1/MTG8 (AML1-MTG8/ETO fusion protein) which is produced in acute myeloid leukemia with the chromosomal translocation t(8;21). May thus be involved in the repression of AML1-dependent transcription and the induction of G-CSF/CSF3-dependent cell growth. May be a tumor suppressor gene candidate involved in myeloid tumors with the deletion of the 20q11 region. Through heteromerization with CBFA2T3/MTG16 may be involved in regulation of the proliferation and the differentiation of erythroid progenitors by repressing the expression of TAL1 target genes (By similarity). Required for the maintenance of the secretory cell lineage in the small intestine. Can inhibit Notch signaling probably by association with RBPJ and may be involved in GFI1-mediated Paneth cell differentiation (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "O43439", "url": "https://www.uniprot.org/uniprot/O43439#function" }, { "database": "PubMed", "id": "23251453", "url": "https://glygen.org/publication/PubMed/23251453" }, { "database": "UniProtKB", "id": "O70374", "url": "https://www.uniprot.org/uniprot/O70374#function" }, { "database": "PubMed", "id": "15203199", "url": "https://glygen.org/publication/PubMed/15203199" }, { "database": "PubMed", "id": "12559562", "url": "https://glygen.org/publication/PubMed/12559562" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "O43439", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O43439" } ], "glycoeffect": [], "start_pos": 318, "end_pos": 318, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "20", "chr_pos": "33624996", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R318", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] }, { "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": "" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "78.58", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000078699", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000078699" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "70.64", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000078699", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000078699" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "80.6", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000078699", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000078699" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "73.34", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000078699", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000078699" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "81.38", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000078699", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000078699" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "84.57", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000078699", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000078699" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "70.71", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000078699", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000078699" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "79.83", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000078699", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000078699" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "82.42", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000078699", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000078699" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "66.89", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000078699", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000078699" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "78.61", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000078699", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000078699" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "87.13", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000078699", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000078699" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "80.63", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000078699", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000078699" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O43439", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43439" } ], "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": "O43439", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43439" } ], "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": "No", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O43439", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43439" } ], "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": 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{ "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 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"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": "O43439", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43439" } ], "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", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43439" } ], "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": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { 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large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O43439", "url": "https://www.uniprot.org/uniprot/O43439" } ], "common_name": "Human" } ], "gene": [ { "name": "CBFA2T2", "url": "https://www.uniprot.org/uniprot/O43439", "locus": { "chromosome": "20", "start_pos": 33650036, "end_pos": 33490075, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000078699", "url": "https://www.ensembl.org/id/ENSG00000078699" } ] } } ], "crossref": [ { "id": "ENSG00000078699", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000078699", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "O43439", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O43439", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "CBFA2T2", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=CBFA2T2", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "9139", "url": "https://www.ncbi.nlm.nih.gov/gene/9139", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "1536", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=1536", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "O43439", "url": "https://www.ebi.ac.uk/intact/interactors/id:O43439*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR002893", "url": "https://www.ebi.ac.uk/interpro/entry/IPR002893", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR003894", "url": "https://www.ebi.ac.uk/interpro/entry/IPR003894", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR013289", "url": "https://www.ebi.ac.uk/interpro/entry/IPR013289", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR013291", "url": "https://www.ebi.ac.uk/interpro/entry/IPR013291", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR014896", "url": "https://www.ebi.ac.uk/interpro/entry/IPR014896", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR037249", "url": "https://www.ebi.ac.uk/interpro/entry/IPR037249", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:9139", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:9139", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "603672", "url": "http://www.omim.org/entry/603672", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O43439", "url": "https://www.nextprot.org/entry/NX_O43439", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "WKHLDHX", "url": "https://omabrowser.org/oma/group/WKHLDHX/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "5314634at2759", "url": "http://www.orthodb.org/?query=5314634at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR10379", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10379", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR10379:SF13", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10379:SF13", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF01753", "url": "http://pfam.xfam.org/family/PF01753", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF07531", "url": "http://pfam.xfam.org/family/PF07531", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF08788", "url": "http://pfam.xfam.org/family/PF08788", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O43439", "url": "https://pharos.nih.gov/targets/O43439", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O43439", "url": "http://purl.obolibrary.org/obo/PR_O43439", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-9827857", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9827857", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001028171", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001028171", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "O43439", "url": "https://www.uniprot.org/uniprot/O43439", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43439-1", "url": "https://www.uniprot.org/uniprot/O43439-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43439-2", "url": "https://www.uniprot.org/uniprot/O43439-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43439-3", "url": "https://www.uniprot.org/uniprot/O43439-3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43439-4", "url": "https://www.uniprot.org/uniprot/O43439-4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43439-5", "url": "https://www.uniprot.org/uniprot/O43439-5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q68DC6", "url": "https://www.uniprot.org/uniprot/Q68DC6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q68DC6-1", "url": "https://www.uniprot.org/uniprot/Q68DC6-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MAKESGISLKEIQVLARQWKVGPEKRVPAMPGSPVEVKIQSRSSPPTMPPLPPINPGGPRPVSFTPTALSNGINHSPPTLNGAPSPPQRFSNGPASSTSSALTNQQLPATCGARQLSKLKRFLTTLQQFGNDISPEIGEKVRTLVLALVNSTVTIEEFHCKLQEATNFPLRPFVIPFLKANLPLLQRELLHCARAAKQTPSQYLAQHEHLLLNTSIASPADSSELLMEVHGNGKRPSPERREENSFDRDTIAPEPPAKRVCTISPAPRHSPALTVPLMNPGGQFHPTPPPLQHYTLEDIATSHLYREPNKMLEHREVRDRHHSLGLNGGYQDELVDHRLTEREWADEWKHLDHALNCIMEMVEKTRRSMAVLRRCQESDREELNYWKRRYNENTELRKTGTELVSRQHSPGSADSLSNDSQREFNSRPGTGYVPVEFWKKTEEAVNKVKIQAMSEVQKAVAEAEQKAFEVIATERARMEQTIADVKRQAAEDAFLVINEQEESTENCWNCGRKASETCSGCNIARYCGSFCQHKDWERHHRLCGQNLHGQSPHGQGRPLLPVGRGSSARSADCSVPSPALDKTSATTSRSSTPASVTAIDTNGL", "length": 604, "header": "sp|O43439-1|MTG8R_HUMAN Isoform 1 of Protein CBFA2T2 OS=Homo sapiens OX=9606 GN=CBFA2T2 PE=1 SV=1 CANONICAL=O43439-1" }, "isoforms": [ { "isoform_ac": "O43439-1", "url": "", "sequence": { "sequence": "MAKESGISLKEIQVLARQWKVGPEKRVPAMPGSPVEVKIQSRSSPPTMPPLPPINPGGPRPVSFTPTALSNGINHSPPTLNGAPSPPQRFSNGPASSTSSALTNQQLPATCGARQLSKLKRFLTTLQQFGNDISPEIGEKVRTLVLALVNSTVTIEEFHCKLQEATNFPLRPFVIPFLKANLPLLQRELLHCARAAKQTPSQYLAQHEHLLLNTSIASPADSSELLMEVHGNGKRPSPERREENSFDRDTIAPEPPAKRVCTISPAPRHSPALTVPLMNPGGQFHPTPPPLQHYTLEDIATSHLYREPNKMLEHREVRDRHHSLGLNGGYQDELVDHRLTEREWADEWKHLDHALNCIMEMVEKTRRSMAVLRRCQESDREELNYWKRRYNENTELRKTGTELVSRQHSPGSADSLSNDSQREFNSRPGTGYVPVEFWKKTEEAVNKVKIQAMSEVQKAVAEAEQKAFEVIATERARMEQTIADVKRQAAEDAFLVINEQEESTENCWNCGRKASETCSGCNIARYCGSFCQHKDWERHHRLCGQNLHGQSPHGQGRPLLPVGRGSSARSADCSVPSPALDKTSATTSRSSTPASVTAIDTNGL", "length": 604, "header": "sp|O43439-1|MTG8R_HUMAN Isoform 1 of Protein CBFA2T2 OS=Homo sapiens OX=9606 GN=CBFA2T2 PE=1 SV=1 CANONICAL=O43439-1" }, "locus": { "chromosome": "20", "start_pos": 33644643, "end_pos": 33574201, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000346541.7", "url": "https://www.ensembl.org/id/ENST00000346541.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000262653.7", "url": "https://www.ensembl.org/id/ENSP00000262653.7" } ] } }, { "isoform_ac": "O43439-2", "url": "", "sequence": { "sequence": "MPGSPVEVKIQSRSSPPTMPPLPPINPGGPRPVSFTPTALSNGINHSPPTLNGAPSPPQRFSNGPASSTSSALTNQQLPATCGARQLSKLKRFLTTLQQFGNDISPEIGEKVRTLVLALVNSTVTIEEFHCKLQEATNFPLRPFVIPFLKANLPLLQRELLHCARAAKQTPSQYLAQHEHLLLNTSIASPADSSELLMEVHGNGKRPSPERREENSFDRDTIAPEPPAKRVCTISPAPRHSPALTVPLMNPGGQFHPTPPPLQHYTLEDIATSHLYREPNKMLEHREVRDRHHSLGLNGGYQDELVDHRLTEREWADEWKHLDHALNCIMEMVEKTRRSMAVLRRCQESDREELNYWKRRYNENTELRKTGTELVSRQHSPGSADSLSNDSQREFNSRPGTGYVPVEFWKKTEEAVNKVKIQAMSEVQKAVAEAEQKAFEVIATERARMEQTIADVKRQAAEDAFLVINEQEESTENCWNCGRKASETCSGCNIARYCGSFCQHKDWERHHRLCGQNLHGQSPHGQGRPLLPVGRGSSARSADCSVPSPALDKTSATTSRSSTPASVTAIDTNGL", "length": 575, "header": "sp|O43439-2|MTG8R_HUMAN Isoform 2 of Protein CBFA2T2 OS=Homo sapiens OX=9606 GN=CBFA2T2 PE=1 SV=1 CANONICAL=O43439-1" }, "locus": { "chromosome": "20", "start_pos": 33644643, "end_pos": 33606982, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000397800.5", "url": "https://www.ensembl.org/id/ENST00000397800.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000380902.1", "url": "https://www.ensembl.org/id/ENSP00000380902.1" } ] } }, { "isoform_ac": "O43439-3", "url": "", "sequence": { "sequence": "MPGSPVEVKIQSRSSPPTMPPLPPINPGGPRPVSFTPTALSNGINHSPPTLNGAPSPPQRFSNGPASSTSSALTNQQLPATCGARQLSKLKRFLTTLQQFGNDISPEIGEKVRTLVLALVNSTVTIEEFHCKLQEATNFPLRPFVIPFLKANLPLLQRELLHCARAAKQTPSQYLAQHEHLLLNTSIASPADSSELLMEVHGNGKRPSPESCIIHLKSMGVASRHEYFSGTLQMPAHPVRNSTLENLWVDCSRSLRSTVLPFP", "length": 263, "header": "sp|O43439-3|MTG8R_HUMAN Isoform 3 of Protein CBFA2T2 OS=Homo sapiens OX=9606 GN=CBFA2T2 PE=1 SV=1 CANONICAL=O43439-1" }, "locus": { "chromosome": "20", "start_pos": 33623929, "end_pos": 33606982, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000344201.7", "url": "https://www.ensembl.org/id/ENST00000344201.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000341865.3", "url": "https://www.ensembl.org/id/ENSP00000341865.3" } ] } }, { "isoform_ac": "O43439-4", "url": "", "sequence": { "sequence": "MGFHHVGQARLELLTSGDLPALASQRAGITVGPEKRVPAMPGSPVEVKIQSRSSPPTMPPLPPINPGGPRPVSFTPTALSNGINHSPPTLNGAPSPPQRFSNGPASSTSSALTNQQLPATCGARQLSKLKRFLTTLQQFGNDISPEIGEKVRTLVLALVNSTVTIEEFHCKLQEATNFPLRPFVIPFLKANLPLLQRELLHCARAAKQTPSQYLAQHEHLLLNTSIASPADSSELLMEVHGNGKRPSPERREENSFDRDTIAPEPPAKRVCTISPAPRHSPALTVPLMNPGGQFHPTPPPLQHYTLEDIATSHLYREPNKMLEHREVRDRHHSLGLNGGYQDELVDHRLTEREWADEWKHLDHALNCIMEMVEKTRRSMAVLRRCQESDREELNYWKRRYNENTELRKTGTELVSRQHSPGSADSLSNDSQREFNSRPGTGYVPVEFWKKTEEAVNKVKIQAMSEVQKAVAEAEQKAFEVIATERARMEQTIADVKRQAAEDAFLVINEQEESTENCWNCGRKASETCSGCNIARYCGSFCQHKDWERHHRLCGQNLHGQSPHGQGRPLLPVGRGSSARSADCSVPSPALDKTSATTSRSSTPASVTAIDTNGL", "length": 614, "header": "sp|O43439-4|MTG8R_HUMAN Isoform 4 of Protein CBFA2T2 OS=Homo sapiens OX=9606 GN=CBFA2T2 PE=1 SV=1 CANONICAL=O43439-1" }, "locus": { "chromosome": "20", "start_pos": 33644643, "end_pos": 33600375, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000359606.3", "url": "https://www.ensembl.org/id/ENST00000359606.3" }, { "database": "Ensembl Peptide", "id": "ENSP00000352622.3", "url": "https://www.ensembl.org/id/ENSP00000352622.3" } ] } }, { "isoform_ac": "O43439-5", "url": "", "sequence": { "sequence": "MVGVPGAAAFQLGPEKRVPAMPGSPVEVKIQSRSSPPTMPPLPPINPGGPRPVSFTPTALSNGINHSPPTLNGAPSPPQRFSNGPASSTSSALTNQQLPATCGARQLSKLKRFLTTLQQFGNDISPEIGEKVRTLVLALVNSTVTIEEFHCKLQEATNFPLRPFVIPFLKANLPLLQRELLHCARAAKQTPSQYLAQHEHLLLNTSIASPADSSELLMEVHGNGKRPSPERREENSFDRDTIAPEPPAKRVCTISPAPRHSPALTVPLMNPGGQFHPTPPPLQHYTLEDIATSHLYREPNKMLEHREVRDRHHSLGLNGGYQDELVDHRLTEREWADEWKHLDHALNCIMEMVEKTRRSMAVLRRCQESDREELNYWKRRYNENTELRKTGTELVSRQHSPGSADSLSNDSQREFNSRPGTGYVPVEFWKKTEEAVNKVKIQAMSEVQKAVAEAEQKAFEVIATERARMEQTIADVKRQAAEDAFLVINEQEESTENCWNCGRKASETCSGCNIARYCGSFCQHKDWERHHRLCGQNLHGQSPHGQGRPLLPVGRGSSARSADCSVPSPALDKTSATTSRSSTPASVTAIDTNGL", "length": 595, "header": "sp|O43439-5|MTG8R_HUMAN Isoform 5 of Protein CBFA2T2 OS=Homo sapiens OX=9606 GN=CBFA2T2 PE=1 SV=1 CANONICAL=O43439-1" }, "locus": { "chromosome": "20", "start_pos": 33644643, "end_pos": 33490268, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000342704.11", "url": "https://www.ensembl.org/id/ENST00000342704.11" }, { "database": "Ensembl Peptide", "id": "ENSP00000345810.6", "url": "https://www.ensembl.org/id/ENSP00000345810.6" } ] } }, { "isoform_ac": "Q68DC6-1", "url": "", "sequence": { "sequence": "MSEVQKAVAEAEQKAFEVIATERARMEQTIADVKRQAAEDAFLVINEQEESTENCWNCGRKASETCSGCNIARYCGSFCQHKDWERHHRLCGQNLHGQSPHGQGRPLLPVGRGSSARSADCSVPSPALDKTSATTSRSSTPASVTAIDTNGL", "length": 152, "header": "tr|Q68DC6-1|Q68DC6_HUMAN Computationally mapped isoform of Uncharacterized protein DKFZp313F2116 OS=Homo sapiens OX=9606 GN=CBFA2T2 PE=1 SV=1 CANONICAL=O43439-1" }, "locus": { "chromosome": "20", "start_pos": 33644643, "end_pos": 33640373, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000543126.1", "url": "https://www.ensembl.org/id/ENST00000543126.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000443398.1", "url": "https://www.ensembl.org/id/ENSP00000443398.1" } ] } } ], "glycosylation": [], "phosphorylation": [ { "start_pos": 203, "end_pos": 203, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O43439", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43439" }, { "database": "PubMed", "id": "32387766", "url": "" } ], "site_lbl": "Tyr203" }, { "start_pos": 264, "end_pos": 264, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O43439", "url": "https://www.uniprot.org/uniprot/O43439" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O43439", "url": 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"start_pos": 399, "end_pos": 399, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O43439", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43439" }, { "database": "PubMed", "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995" } ], "site_lbl": "Thr399" }, { "start_pos": 409, "end_pos": 409, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O43439", "url": "https://www.uniprot.org/uniprot/O43439" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O43439", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43439" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser409" }, { "start_pos": 412, "end_pos": 412, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O43439", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43439" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser412" }, { "start_pos": 577, "end_pos": 577, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O43439", "url": "https://www.uniprot.org/uniprot/O43439" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O43439", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43439" }, { "database": "PubMed", "id": "19664994", "url": "https://glygen.org/publication/PubMed/19664994" } ], "site_lbl": "Ser577" }, { "start_pos": 592, "end_pos": 592, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O43439", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43439" }, { "database": "PubMed", "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995" } ], "site_lbl": "Thr592" } ], "glycation": [], "keywords": [], "publication": [ { "title": "Structure and expression pattern of a human MTG8/ETO family gene, MTGR1.", "journal": "Gene", "date": "2000", "authors": "Morohoshi F, Mitani S, Mitsuhashi N, Kitabayashi I, Takahashi E, Suzuki M, Munakata N, Ohki M", "evidence": [ { "database": "UniProtKB", "id": "O43439", "url": "https://www.uniprot.org/uniprot/O43439" } ], "reference": [ { "type": "PubMed", "id": "10675041", "url": "https://glygen.org/publication/PubMed/10675041" } ] }, { "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": "O43439", "url": "https://www.uniprot.org/uniprot/O43439" } ], "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": "O43439", "url": "https://www.uniprot.org/uniprot/O43439" } ], "reference": [ { "type": "PubMed", "id": "12559562", "url": "https://glygen.org/publication/PubMed/12559562" } ] }, { "title": "Interactions between the leukaemia-associated ETO homologues of nuclear repressor proteins.", "journal": "Eur. 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Haematol.", "date": "2003", "authors": "Lindberg Sofia Rondin, Olsson Andr\u00e9, Persson Ann-Maj, Olsson Inge", "evidence": [ { "database": "UniProtKB", "id": "O43439", "url": "https://www.uniprot.org/uniprot/O43439" } ], "reference": [ { "type": "PubMed", "id": "14703694", "url": "https://glygen.org/publication/PubMed/14703694" } ] }, { "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": "O43439", "url": "https://www.uniprot.org/uniprot/O43439" } ], "reference": [ { "type": "PubMed", "id": "15203199", "url": "https://glygen.org/publication/PubMed/15203199" } ] }, { "title": "Large-scale characterization of HeLa cell nuclear phosphoproteins.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2004", "authors": "Beausoleil SA, Jedrychowski M, Schwartz D, Elias JE, Villen J, Li J, Cohn MA, Cantley LC, Gygi SP", "evidence": [ { "database": "iPTMnet", "id": "O43439-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43439-1" } ], "reference": [ { "type": "PubMed", "id": "15302935", "url": "https://glygen.org/publication/PubMed/15302935" } ] }, { "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": "O43439", "url": "https://www.uniprot.org/uniprot/O43439" } ], "reference": [ { "type": "PubMed", "id": "16616331", "url": "https://glygen.org/publication/PubMed/16616331" } ] }, { "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": "O43439-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43439-1" } ], "reference": [ { "type": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ] }, { "title": "Phosphoproteomic analysis of human embryonic stem cells.", "journal": "Cell stem cell", "date": "2009", "authors": "Brill LM, Xiong W, Lee KB, Ficarro SB, Crain A, Xu Y, Terskikh A, Snyder EY, Ding S", "evidence": [ { "database": "iPTMnet", "id": "O43439-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43439-1" } ], "reference": [ { "type": "PubMed", "id": "19664994", "url": "https://glygen.org/publication/PubMed/19664994" } ] }, { "title": "Phosphorylation dynamics during early differentiation of human embryonic stem cells.", "journal": "Cell stem cell", "date": "2009", "authors": "Van Hoof D, Munoz J, Braam SR, Pinkse MW, Linding R, Heck AJ, Mummery CL, Krijgsveld J", "evidence": [ { "database": "iPTMnet", "id": "O43439-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43439-1" } ], "reference": [ { "type": "PubMed", "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "iPTMnet", "id": "O43439-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43439-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "CBFA2T2 and C20orf112: two novel fusion partners of RUNX1 in acute myeloid leukemia.", "journal": "Leukemia", "date": "2010", "authors": "Guastadisegni MC, Lonoce A, Impera L, Di Terlizzi F, Fugazza G, Aliano S, Grasso R, Cluzeau T, Raynaud S, Rocchi M, Storlazzi CT", "evidence": [ { "database": "UniProtKB", "id": "O43439", "url": "https://www.uniprot.org/uniprot/O43439" } ], "reference": [ { "type": "PubMed", "id": "20520637", "url": "https://glygen.org/publication/PubMed/20520637" } ] }, { "title": "The leukemia associated nuclear corepressor ETO homologue genes MTG16 and MTGR1 are regulated differently in hematopoietic cells.", "journal": "BMC molecular biology", "date": "2012", "authors": "Ajore R, Kumar P, Dhanda RS, Gullberg U, Olsson I", "evidence": [ { "database": "RefSeq", "id": "NP_001028171", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001028171" } ], "reference": [ { "type": "PubMed", "id": "22443175", "url": "https://glygen.org/publication/PubMed/22443175" } ] }, { "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": "O43439", "url": "https://www.uniprot.org/uniprot/O43439" }, { "database": "iPTMnet", "id": "O43439", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43439" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "Kaiso directs the transcriptional corepressor MTG16 to the Kaiso binding site in target promoters.", "journal": "PloS one", "date": "2012", "authors": "Barrett Caitlyn W, Smith J Joshua, Lu Lauren C, Markham Nicholas, Stengel Kristy R, Short Sarah P, Zhang Baolin, Hunt Aubrey A, Fingleton Barbara M, Carnahan Robert H, Engel Michael E, Chen Xi, Beauchamp R Daniel, Wilson Keith T, Hiebert Scott W, Reynolds Albert B, Williams Christopher S", "evidence": [ { "database": "UniProtKB", "id": "O43439", "url": 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Haematol.", "date": "2015", "authors": "Stasevich Irina, Inglott Sarah, Austin Nicola, Chatters Steve, Chalker Jane, Addy Dilys, Dryden Carryl, Ancliff Philip, Ford Anthony, Williams Owen, Kempski Helena", "evidence": [ { "database": "UniProtKB", "id": "O43439", "url": "https://www.uniprot.org/uniprot/O43439" } ], "reference": [ { "type": "PubMed", "id": "26115422", "url": "https://glygen.org/publication/PubMed/26115422" } ] }, { "title": "Robust In Vitro Induction of Human Germ Cell Fate from Pluripotent Stem Cells.", "journal": "Cell stem cell", "date": "2015-08-06", "authors": "Sasaki Kotaro, Yokobayashi Shihori, Nakamura Tomonori, Okamoto Ikuhiro, Yabuta Yukihiro, Kurimoto Kazuki, Ohta Hiroshi, Moritoki Yoshinobu, Iwatani Chizuru, Tsuchiya Hideaki, Nakamura Shinichiro, Sekiguchi Kiyotoshi, Sakuma Tetsushi, Yamamoto Takashi, Mori Takahide, Woltjen Knut, Nakagawa Masato, Yamamoto Takuya, Takahashi Kazutoshi, Yamanaka Shinya, Saitou Mitinori", "evidence": [ { "database": "Reactome", 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Reinberg D", "evidence": [ { "database": "UniProtKB", "id": "O43439", "url": "https://www.uniprot.org/uniprot/O43439" }, { "database": "RefSeq", "id": "NP_001028171", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001028171" } ], "reference": [ { "type": "PubMed", "id": "27281218", "url": "https://glygen.org/publication/PubMed/27281218" } ] }, { "title": "Evolutionarily Distinctive Transcriptional and Signaling Programs Drive Human Germ Cell Lineage Specification from Pluripotent Stem Cells.", "journal": "Cell stem cell", "date": "2017-10-05", "authors": "Kojima Yoji, Sasaki Kotaro, Yokobayashi Shihori, Sakai Yoshitake, Nakamura Tomonori, Yabuta Yukihiro, Nakaki Fumio, Nagaoka So, Woltjen Knut, Hotta Akitsu, Yamamoto Takuya, Saitou Mitinori", "evidence": [ { "database": "Reactome", "id": "R-HSA-9827857", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9827857" } ], "reference": [ { "type": "PubMed", "id": "28985527", "url": "https://glygen.org/publication/PubMed/28985527" } ] }, { "title": "Germline competency of human embryonic stem cells depends on eomesodermin.", "journal": "Biology of reproduction", "date": "2017-01-01", "authors": "Chen Di, Liu Wanlu, Lukianchikov Anastasia, Hancock Grace V, Zimmerman Jill, Lowe Matthew G, Kim Rachel, Galic Zoran, Irie Naoko, Surani M Azim, Jacobsen Steven E, Clark Amander T", "evidence": [ { "database": "Reactome", "id": "R-HSA-9827857", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9827857" } ], "reference": [ { "type": "PubMed", "id": "29091993", "url": "https://glygen.org/publication/PubMed/29091993" } ] }, { "title": "A PAX5-OCT4-PRDM1 developmental switch specifies human primordial germ cells.", "journal": "Nature cell biology", "date": "2018", "authors": "Fang F, Angulo B, Xia N, Sukhwani M, Wang Z, Carey CC, Mazurie A, Cui J, Wilkinson R, Wiedenheft B, Irie N, Surani MA, Orwig KE, Reijo Pera RA", "evidence": [ { "database": "Reactome", "id": "R-HSA-9827857", "url": 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Xiong Chengliang, Ni Ke", "evidence": [ { "database": "Reactome", "id": "R-HSA-9827857", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9827857" } ], "reference": [ { "type": "PubMed", "id": "32127035", "url": "https://glygen.org/publication/PubMed/32127035" } ] }, { "title": "CBFA2T2 promotes adipogenic differentiation of mesenchymal stem cells by regulating CEBPA.", "journal": "Biochemical and biophysical research communications", "date": "2020", "authors": "Luo J, Dou L, Yang Z, Zhou Z, Huang H", "evidence": [ { "database": "RefSeq", "id": "NP_001028171", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001028171" } ], "reference": [ { "type": "PubMed", "id": "32703401", "url": "https://glygen.org/publication/PubMed/32703401" } ] }, { "title": "Activin A-derived human embryonic stem cells show increased competence to differentiate into primordial germ cell-like cells.", "journal": "Stem cells (Dayton, Ohio)", "date": "2021-05", "authors": "Mishra Swati, Taelman Jasin, Popovic Mina, Tilleman Laurentijn, Duthoo Evi, van der Jeught Margot, Deforce Dieter, van Nieuwerburgh Filip, Menten Bj\u00f6rn, de Sutter Petra, Boel Annekatrien, Chuva De Sousa Lopes Susana M, Heindryckx Bj\u00f6rn", "evidence": [ { "database": "Reactome", "id": "R-HSA-9827857", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9827857" } ], "reference": [ { "type": "PubMed", "id": "33470497", "url": "https://glygen.org/publication/PubMed/33470497" } ] }, { "title": "GATA transcription factors, SOX17 and TFAP2C, drive the human germ-cell specification program.", "journal": "Life science alliance", "date": "2021", "authors": "Kojima Y, Yamashiro C, Murase Y, Yabuta Y, Okamoto I, Iwatani C, Tsuchiya H, Nakaya M, Tsukiyama T, Nakamura T, Yamamoto T, Saitou M", "evidence": [ { "database": "Reactome", "id": "R-HSA-9827857", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9827857" } ], "reference": [ { "type": "PubMed", "id": "33608411", "url": 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Cell. Biol.", "date": "1998", "authors": "Kitabayashi I, Ida K, Morohoshi F, Yokoyama A, Mitsuhashi N, Shimizu K, Nomura N, Hayashi Y, Ohki M", "evidence": [ { "database": "UniProtKB", "id": "O43439", "url": "https://www.uniprot.org/uniprot/O43439" } ], "reference": [ { "type": "PubMed", "id": "9447981", "url": "https://glygen.org/publication/PubMed/9447981" } ] }, { "title": "EHT, a new member of the MTG8/ETO gene family, maps on 20q11 region and is deleted in acute myeloid leukemias.", "journal": "Blood", "date": "1998", "authors": "Fracchiolla N S, Colombo G, Finelli P, Maiolo A T, Neri A", "evidence": [ { "database": "UniProtKB", "id": "O43439", "url": "https://www.uniprot.org/uniprot/O43439" } ], "reference": [ { "type": "PubMed", "id": "9787195", "url": "https://glygen.org/publication/PubMed/9787195" } ] }, { "title": "CBFA2T1, a gene rearranged in human leukemia, is a member of a multigene family.", "journal": "Genomics", "date": "1998", "authors": "Calabi F, Cilli V", "evidence": [ { "database": "UniProtKB", "id": "O43439", "url": "https://www.uniprot.org/uniprot/O43439" } ], "reference": [ { "type": "PubMed", "id": "9790752", "url": "https://glygen.org/publication/PubMed/9790752" } ] } ], "pathway": [ { "id": "hsa:9139", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:9139", "resource": "KEGG Pathway" }, { "id": "R-HSA-9827857", "name": "Specification of primordial germ cells", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9827857", "resource": "Reactome", "description": "Specification of primordial germ cells" } ], "orthologs": [ { "uniprot_canonical_ac": "A0A0B4KEZ2-1", "protein_name": "Nervy, isoform D", "gene_name": "nvy", "tax_id": 7227, "organism": "Drosophila melanogaster", "sequence": { "sequence": "MMALDGKAIIKEEITDKDAYDAAAAAAAAVAAGAALAVASAAAVQVPPASSSSAGSASSAAAAATNNTTSAAATAAAISRRLKASSSGGDKSSTSSSSSKDSSHTSSSRSERDRERERERERERDRLCRTPPDSPPDSSRSLAPRSPHSPLQLHQHPQRNASVSPVVNGSSSGGGGVGSSGTSPTPTPGSQHAASLAAAAAAAAAAHVEQARLVSKMRKFLGALVQFSQELGQPEVCERVRALVLSLCSGSISVEEFRLALQEAINLPLRPYVVPLLKNSIALVQREILALARATNQSALQYVTNNEQAVMEFAPHGVASAEFGDIFIQLEAPTSNGSSAVFKRRSSDSMMEHGGHNGLQEWNEYMASGGAGYPPPPSKRLTLHPAHSVVAYGEYGVSSAEGLPSAAAFMQRDERDLRMSEAQARHAAPPQRAGNPQPNPNAAAPGAPGAGGEEEWKNIHTMLNCISAMVDKTKRAITILQQRGIEPQHPNSGQEVTPAAMAELRRQTEEKVAEFKRNAEDAVTQVKRQAVIEIQRAVVAAETRAAEIMTQERLRMEKFFMEMSRHSSGERDLDNKSPSMASAQNGSNLQQQCWNCGRKATETCSGCNMARYCSASCQYRDWDSHHQVCGNTRASELSAKHLHSASNLSLRNAMATRSPPTPNSAAHLQAAAAAAAAAAGAREAVSAPVGGPGAGIAVGTGAGSGGQSGGGGGGGGGGGGGAAAAAVAAATPGALVANGLGSKXRIRMMKPKKKYLC", "length": 757 }, "evidence": [ { "id": "O43439", "url": "https://omabrowser.org/oma/group/O43439/", "database": "OMA" } ], "common_name": "Fruit fly" }, { "uniprot_canonical_ac": "A0A8I5ZYV9-1", "protein_name": "CBFA2/RUNX1 partner 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