{ "uniprot_canonical_ac": "O43313-1", "uniprot_ac": "O43313", "uniprot_id": "ATMIN_HUMAN", "mass": { "chemical_mass": 88348.0, "monoisotopic_mass": 88348.0 }, "refseq": { "ac": "NP_001287657", "name": "ATM interactor isoform 2", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287657" }, "gene_names": [ { "name": "ATMIN", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O43313", "id": "O43313" }, { "name": "ASCIZ; ZNF822", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287657", "id": "NP_001287657" }, { "name": "ATMIN", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287657", "id": "NP_001287657" }, { "name": "KIAA0431", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O43313", "id": "O43313" }, { "name": "ZNF822", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O43313", "id": "O43313" } ], "protein_names": [ { "name": "ATM interactor", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O43313" }, { "name": "ASCIZ", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43313" }, { "name": "ATM interactor isoform 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287657", "id": "NP_001287657" }, { "name": "ATM/ATR-Substrate Chk2-Interacting Zn++-finger protein; ATM INteracting protein; zinc finger protein 822; ATM/ATR-substrate CHK2-interacting zinc finger protein; ATM/ATR-substrate CHEK2-interacting zinc finger protein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287657", "id": "NP_001287657" }, { "name": "ATM/ATR-substrate CHK2-interacting zinc finger protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43313" }, { "name": "Zinc finger protein 822", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43313" } ], "function": [ { "annotation": "ASCIZ (ATMIN) is structurally related to the yeast ATM/ATR substrate Mdt1 (Pin4/Ybl051c); both proteins contain SQ/TQ cluster domains and interact with N-terminal FHA domains of CHK2/Rad53 kinases. Review article", "evidence": [ { "database": "RefSeq", "id": "NP_001287657", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287657" }, { "database": "PubMed", "id": "18728389", "url": "https://glygen.org/publication/PubMed/18728389" } ] }, { "annotation": "ASCIZ acts as a lesion-specific focus scaffold in a Rad51-dependent pathway that resolves cytotoxic repair intermediates, most likely single-stranded DNA gaps, resulting from MLH1-dependent processing of base lesions. GeneRIF: ATM/ATR-Substrate Chk2-Interacting Zn2+-finger protein (ASCIZ) required for repair of abasic sites after methylating and oxidative DNA damage but not double-strand breaks. Forms DNA damage-induced foci with RAD51 and ssDNA. ASCIZ foci depend on MLH1.", "evidence": [ { "database": "RefSeq", "id": "NP_001287657", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287657" }, { "database": "PubMed", "id": "15933716", "url": "https://glygen.org/publication/PubMed/15933716" } ] }, { "annotation": "ATMIN Suppresses Metastasis by Altering the WNT-Signaling Pathway via PARP1 in MSI-High Colorectal Cancer.", "evidence": [ { "database": "RefSeq", "id": "NP_001287657", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287657" }, { "database": "PubMed", "id": "34148137", "url": "https://glygen.org/publication/PubMed/34148137" } ] }, { "annotation": "ATMIN defines a novel NBS1-independent pathway of ATM signalling.", "evidence": [ { "database": "RefSeq", "id": "NP_001287657", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287657" }, { "database": "PubMed", "id": "17525732", "url": "https://glygen.org/publication/PubMed/17525732" } ] }, { "annotation": "ATMIN is located close to FRA16D and is commonly lost in lung adenocarcinoma (LUAD)and was associated with reduced patient survival. ATMIN is a tumor suppressor in LUAD; fragility at chr16q23 correlates with loss of ATMIN in human LUAD.", "evidence": [ { "database": "RefSeq", "id": "NP_001287657", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287657" }, { "database": "PubMed", "id": "31481498", "url": "https://glygen.org/publication/PubMed/31481498" } ] }, { "annotation": "MicroRNA-361-5p slows down gliomas development through regulating UBR5 to elevate ATMIN protein expression. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001287657", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287657" }, { "database": "PubMed", "id": "34321465", "url": "https://glygen.org/publication/PubMed/34321465" } ] }, { "annotation": "PPARgamma promotes ATM signaling and is essential for UBR5 activity targeting ATM interactor (ATMIN).", "evidence": [ { "database": "RefSeq", "id": "NP_001287657", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287657" }, { "database": "PubMed", "id": "30699358", "url": "https://glygen.org/publication/PubMed/30699358" } ] }, { "annotation": "These data suggest that ASCIZ may affect the choice between competing base repair pathways in a manner that reduces the amount of substrates available for Ig gene conversion. Erratum:[Biochem Biophys Res Commun. 2008 Dec 5;377(1):326]", "evidence": [ { "database": "RefSeq", "id": "NP_001287657", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287657" }, { "database": "PubMed", "id": "18433721", "url": "https://glygen.org/publication/PubMed/18433721" } ] }, { "annotation": "This work indicates a novel role for non-canonical Wnt/planar cell polarity signalling in Autosomal Recessive Polycystic Kidney Disease and suggests ATMIN as a modulator of PKHD1.", "evidence": [ { "database": "RefSeq", "id": "NP_001287657", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287657" }, { "database": "PubMed", "id": "30414501", "url": "https://glygen.org/publication/PubMed/30414501" } ] }, { "annotation": "Transcription factor. Plays a crucial role in cell survival and RAD51 foci formation in response to methylating DNA damage. Involved in regulating the activity of ATM in the absence of DNA damage. May play a role in stabilizing ATM. Binds to the DYNLL1 promoter and activates its transcription.", "evidence": [ { "database": "UniProtKB", "id": "O43313", "url": "https://www.uniprot.org/uniprot/O43313#function" }, { "database": "PubMed", "id": "17525732", "url": "https://glygen.org/publication/PubMed/17525732" }, { "database": "PubMed", "id": "15933716", "url": "https://glygen.org/publication/PubMed/15933716" }, { "database": "PubMed", "id": "22167198", "url": "https://glygen.org/publication/PubMed/22167198" } ] } ], "disease": [], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "87.55", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000166454", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000166454" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "90.31", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000166454", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000166454" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "83.4", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000166454", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000166454" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "77.89", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000166454", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000166454" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "89.84", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000166454", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000166454" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "91.61", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000166454", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000166454" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "72.33", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000166454", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000166454" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "90.37", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000166454", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000166454" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "87.5", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000166454", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000166454" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "72.12", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000166454", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000166454" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "88.21", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000166454", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000166454" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "88.95", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000166454", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000166454" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "85.58", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000166454", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000166454" } ] } ], "expression_disease": [ { "significant": "No", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O43313", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43313" } ], "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": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O43313", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43313" } ], "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": 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"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": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O43313", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43313" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": 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"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": "Yes", "trend": "down", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O43313", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43313" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. 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": "up", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "O43313", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43313" } ], "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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Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O43313", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43313" } ], "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/O43313" } ], "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": [ 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Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal 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"MAASEAAAAAGSAALAAGARAVPAATTGAAAAASGPWVPPGPRLRGSRPRPAGATQQPAVPAPPAGELIQPSVSELSRAVRTNILCTVRGCGKILPNSPALNMHLVKSHRLQDGIVNPTIRKDLKTGPKFYCCPIEGCPRGPERPFSQFSLVKQHFMKMHAEKKHKCSKCSNSYGTEWDLKRHAEDCGKTFRCTCGCPYASRTALQSHIYRTGHEIPAEHRDPPSKKRKMENCAQNQKLSNKTIESLNNQPIPRPDTQELEASEIKLEPSFEDSCGSNTDKQTLTTPPRYPQKLLLPKPKVALVKLPVMQFSVMPVFVPTADSSAQPVVLGVDQGSATGAVHLMPLSVGTLILGLDSEACSLKESLPLFKIANPIAGEPISTGVQVNFGKSPSNPLQELGNTCQKNSISSINVQTDLSYASQNFIPSAQWATADSSVSSCSQTDLSFDSQVSLPISVHTQTFLPSSKVTSSIAAQTDAFMDTCFQSGGVSRETQTSGIESPTDDHVQMDQAGMCGDIFESVHSSYNVATGNIISNSLVAETVTHSLLPQNEPKTLNQDIEKSAPIINFSAQNSMLPSQNMTDNQTQTIDLLSDLENILSSNLPAQTLDHRSLLSDTNPGPDTQLPSGPAQNPGIDFDIEEFFSASNIQTQTEESELSTMTTEPVLESLDIETQTDFLLADTSAQSYGCRGNSNFLGLEMFDTQTQTDLNFFLDSSPHLPLGSILKHSSFSVSTDSSDTETQTEGVSTAKNIPALESKVQLNSTETQTMSSGFETLGSLFFTSNETQTAMDDFLLADLAWNTMESQFSSVETQTSAEPHTVSNF", "length": 823, "header": "sp|O43313-1|ATMIN_HUMAN Isoform 1 of ATM interactor OS=Homo sapiens OX=9606 GN=ATMIN PE=1 SV=2 CANONICAL=O43313-1" }, "isoforms": [ { "isoform_ac": "J3QRX7-1", "url": "", "sequence": { "sequence": "MKMHAEKKHKCSKCSNSYGTEWDLKRHAEDCGKTFRCTCGCPYASRTALQSHIY", "length": 54, "header": "tr|J3QRX7-1|ATMIN_HUMAN Computationally mapped isoform of ATM interactor OS=Homo sapiens OX=9606 GN=ATMIN PE=1 SV=8 CANONICAL=O43313-1" }, "locus": { "chromosome": "16", "start_pos": 81042448, "end_pos": 81042287, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000565237.1", "url": "https://www.ensembl.org/id/ENST00000565237.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000464427.1", "url": "https://www.ensembl.org/id/ENSP00000464427.1" } ] } }, { "isoform_ac": "O43313-1", "url": "", "sequence": { "sequence": "MAASEAAAAAGSAALAAGARAVPAATTGAAAAASGPWVPPGPRLRGSRPRPAGATQQPAVPAPPAGELIQPSVSELSRAVRTNILCTVRGCGKILPNSPALNMHLVKSHRLQDGIVNPTIRKDLKTGPKFYCCPIEGCPRGPERPFSQFSLVKQHFMKMHAEKKHKCSKCSNSYGTEWDLKRHAEDCGKTFRCTCGCPYASRTALQSHIYRTGHEIPAEHRDPPSKKRKMENCAQNQKLSNKTIESLNNQPIPRPDTQELEASEIKLEPSFEDSCGSNTDKQTLTTPPRYPQKLLLPKPKVALVKLPVMQFSVMPVFVPTADSSAQPVVLGVDQGSATGAVHLMPLSVGTLILGLDSEACSLKESLPLFKIANPIAGEPISTGVQVNFGKSPSNPLQELGNTCQKNSISSINVQTDLSYASQNFIPSAQWATADSSVSSCSQTDLSFDSQVSLPISVHTQTFLPSSKVTSSIAAQTDAFMDTCFQSGGVSRETQTSGIESPTDDHVQMDQAGMCGDIFESVHSSYNVATGNIISNSLVAETVTHSLLPQNEPKTLNQDIEKSAPIINFSAQNSMLPSQNMTDNQTQTIDLLSDLENILSSNLPAQTLDHRSLLSDTNPGPDTQLPSGPAQNPGIDFDIEEFFSASNIQTQTEESELSTMTTEPVLESLDIETQTDFLLADTSAQSYGCRGNSNFLGLEMFDTQTQTDLNFFLDSSPHLPLGSILKHSSFSVSTDSSDTETQTEGVSTAKNIPALESKVQLNSTETQTMSSGFETLGSLFFTSNETQTAMDDFLLADLAWNTMESQFSSVETQTSAEPHTVSNF", "length": 823, "header": "sp|O43313-1|ATMIN_HUMAN Isoform 1 of ATM interactor OS=Homo sapiens OX=9606 GN=ATMIN PE=1 SV=2 CANONICAL=O43313-1" }, "locus": { "chromosome": "16", "start_pos": 81044967, "end_pos": 81035871, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000299575.5", "url": "https://www.ensembl.org/id/ENST00000299575.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000299575.3", "url": "https://www.ensembl.org/id/ENSP00000299575.3" } ] } }, { "isoform_ac": "O43313-2", "url": "", "sequence": { "sequence": "MKMHAEKKHKCSKCSNSYGTEWDLKRHAEDCGKTFRCTCGCPYASRTALQSHIYRTGHEIPAEHRDPPSKKRKMENCAQNQKLSNKTIESLNNQPIPRPDTQELEASEIKLEPSFEDSCGSNTDKQTLTTPPRYPQKLLLPKPKVALVKLPVMQFSVMPVFVPTADSSAQPVVLGVDQGSATGAVHLMPLSVGTLILGLDSEACSLKESLPLFKIANPIAGEPISTGVQVNFGKSPSNPLQELGNTCQKNSISSINVQTDLSYASQNFIPSAQWATADSSVSSCSQTDLSFDSQVSLPISVHTQTFLPSSKVTSSIAAQTDAFMDTCFQSGGVSRETQTSGIESPTDDHVQMDQAGMCGDIFESVHSSYNVATGNIISNSLVAETVTHSLLPQNEPKTLNQDIEKSAPIINFSAQNSMLPSQNMTDNQTQTIDLLSDLENILSSNLPAQTLDHRSLLSDTNPGPDTQLPSGPAQNPGIDFDIEEFFSASNIQTQTEESELSTMTTEPVLESLDIETQTDFLLADTSAQSYGCRGNSNFLGLEMFDTQTQTDLNFFLDSSPHLPLGSILKHSSFSVSTDSSDTETQTEGVSTAKNIPALESKVQLNSTETQTMSSGFETLGSLFFTSNETQTAMDDFLLADLAWNTMESQFSSVETQTSAEPHTVSNF", "length": 667, "header": "sp|O43313-2|ATMIN_HUMAN Isoform 2 of ATM interactor OS=Homo sapiens OX=9606 GN=ATMIN PE=1 SV=2 CANONICAL=O43313-1" }, "locus": { "chromosome": "16", "start_pos": 81044967, "end_pos": 81042287, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000566488.1", "url": "https://www.ensembl.org/id/ENST00000566488.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000455497.1", "url": "https://www.ensembl.org/id/ENSP00000455497.1" } ] } } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [], "publication": [ { "title": "ASCIZ regulates lesion-specific Rad51 focus formation and apoptosis after methylating DNA damage.", "journal": "The EMBO journal", "date": "2005", "authors": "McNees CJ, Conlan LA, Tenis N, Heierhorst J", "evidence": [ { "database": "UniProtKB", "id": "O43313", "url": "https://www.uniprot.org/uniprot/O43313" }, { "database": "RefSeq", "id": "NP_001287657", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287657" } ], "reference": [ { "type": "PubMed", "id": "15933716", "url": "https://glygen.org/publication/PubMed/15933716" } ] }, { "title": "ATMIN defines an NBS1-independent pathway of ATM signalling.", "journal": "The EMBO journal", "date": "2007", "authors": "Kanu N, Behrens A", "evidence": [ { "database": "UniProtKB", "id": "O43313", "url": "https://www.uniprot.org/uniprot/O43313" }, { "database": "RefSeq", "id": "NP_001287657", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287657" } ], "reference": [ { "type": "PubMed", "id": "17525732", "url": "https://glygen.org/publication/PubMed/17525732" } ] }, { "title": "DNA damage response protein ASCIZ links base excision repair with immunoglobulin gene conversion.", "journal": "Biochemical and biophysical research communications", "date": "2008", "authors": "Oka H, Sakai W, Sonoda E, Nakamura J, Asagoshi K, Wilson SH, Kobayashi M, Yamamoto K, Heierhorst J, Takeda S, Taniguchi Y", "evidence": [ { "database": "RefSeq", "id": "NP_001287657", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287657" } ], "reference": [ { "type": "PubMed", "id": "18433721", "url": "https://glygen.org/publication/PubMed/18433721" } ] }, { "title": "Mdt1/ASCIZ: a new DNA damage response protein family.", "journal": "Cell cycle (Georgetown, Tex.)", "date": "2008", "authors": "Heierhorst J", "evidence": [ { "database": "RefSeq", "id": "NP_001287657", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287657" } ], "reference": [ { "type": "PubMed", "id": "18728389", "url": "https://glygen.org/publication/PubMed/18728389" } ] }, { "title": "ATM substrate Chk2-interacting Zn2+ finger (ASCIZ) Is a bi-functional transcriptional activator and feedback sensor in the regulation of dynein light chain (DYNLL1) expression.", "journal": "The Journal of biological chemistry", "date": "2012-01-27", "authors": "Jurado Sabine, Conlan Lindus A, Baker Emma K, Ng Jane-Lee, Tenis Nora, Hoch Nicolas C, Gleeson Kimberly, Smeets Monique, Izon David, Heierhorst J\u00f6rg", "evidence": [ { "database": "UniProtKB", "id": "O43313", "url": "https://www.uniprot.org/uniprot/O43313" } ], "reference": [ { "type": "PubMed", "id": "22167198", "url": "https://glygen.org/publication/PubMed/22167198" } ] }, { "title": "Atmin modulates Pkhd1 expression and may mediate Autosomal Recessive Polycystic Kidney Disease (ARPKD) through altered non-canonical Wnt/Planar Cell Polarity (PCP) signalling.", "journal": "Biochimica et biophysica acta. Molecular basis of disease", "date": "2019", "authors": "Richards T, Modarage K, Dean C, McCarthy-Boxer A, Hilton H, Esapa C, Norman J, Wilson P, Goggolidou P", "evidence": [ { "database": "RefSeq", "id": "NP_001287657", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287657" } ], "reference": [ { "type": "PubMed", "id": "30414501", "url": "https://glygen.org/publication/PubMed/30414501" } ] }, { "title": "PPARgamma Interaction with UBR5/ATMIN Promotes DNA Repair to Maintain Endothelial Homeostasis.", "journal": "Cell reports", "date": "2019", "authors": "Li CG, Mahon C, Sweeney NM, Verschueren E, Kantamani V, Li D, Hennigs JK, Marciano DP, Diebold I, Abu-Halawa O, Elliott M, Sa S, Guo F, Wang L, Cao A, Guignabert C, Sollier J, Nickel NP, Kaschwich M, Cimprich KA, Rabinovitch M", "evidence": [ { "database": "RefSeq", "id": "NP_001287657", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287657" } ], "reference": [ { "type": "PubMed", "id": "30699358", "url": "https://glygen.org/publication/PubMed/30699358" } ] }, { "title": "ATMIN Is a Tumor Suppressor Gene in Lung Adenocarcinoma.", "journal": "Cancer research", "date": "2019", "authors": "Foster H, Ruiz EJ, Moore C, Stamp GWH, Nye EL, Li N, Pan Y, He Y, Downward J, Behrens A", "evidence": [ { "database": "RefSeq", "id": "NP_001287657", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287657" } ], "reference": [ { "type": "PubMed", "id": "31481498", "url": "https://glygen.org/publication/PubMed/31481498" } ] }, { "title": "ATMIN Suppresses Metastasis by Altering the WNT-Signaling Pathway via PARP1 in MSI-High Colorectal Cancer.", "journal": "Annals of surgical oncology", "date": "2021", "authors": "Li YJ, Yang CN, Kuo MY, Lai WT, Wu TS, Lin BR", "evidence": [ { "database": "RefSeq", "id": "NP_001287657", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287657" } ], "reference": [ { "type": "PubMed", "id": "34148137", "url": "https://glygen.org/publication/PubMed/34148137" } ] }, { "title": "MicroRNA-361-5p slows down gliomas development through regulating UBR5 to elevate ATMIN protein expression.", "journal": "Cell death & disease", "date": "2021", "authors": "Jia J, Ouyang Z, Wang M, Ma W, Liu M, Zhang M, Yu M", "evidence": [ { "database": "RefSeq", "id": "NP_001287657", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287657" } ], "reference": [ { "type": "PubMed", "id": "34321465", "url": "https://glygen.org/publication/PubMed/34321465" } ] } ], "pathway": [ { "id": "hsa:23300", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:23300", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "A0A8W4FG54-1", "protein_name": "C2H2-type domain-containing protein", "gene_name": "", "tax_id": 9823, "organism": "Sus scrofa", "sequence": { "sequence": "MAASEAAAAAGPAALASGASAGPTAARGATAASGPWGPPGRLRGSRPRPARARQQFAGPAPPARELIQPSVSELSRAVRTNILCTVRGCGKILPNSPALNMHLVKSHRLQDGIVNPTIRKDLKTVPKFYCCPIEGFPRGPDRPFSQFSLVKQHFMKMHAEKKHKCSKCSNSYGTEWDLKRHAEDCGKTFQCTCGCPYASRTALQSHIYRTGHEIPAEHRDPPSKKRKMENCLHNQKLSSKTVESLRNQPTPRPDTQELETSEIKLAASFEDSCSSNARKQTLTTPPRYPQKLLLPKPKVALVKLPVMQFSPVPVFVPTADSSAQPVVLGVDQQGAAPSAVHLLPLSIGTLILGLDSEACSLKESLPLSKIVNPVAVEPVSTGVQVNLGKSPSNPLQELGSPCQKNSISSINVQTDLPDSSVSSCSQTDLTFGSQVSLPISVHTQTFLPSSKVTSSIAAQTDGFIEACFQPGGISRETQTSGMQSPADAREQMDQAVMCGDIFESVHSSYGVSADNIISSSLVAETVTHGLLPQNHPKTLSQDIEKSAPIINFSTQNRLLPSQNMTDNQTQTIDLLSDLENILSSNLPAQTLDNRGLLSDANTGPDTQLPSGPAQNPAIDFDIEEFFSASNIQTQTEESELSTMTTEPVLESLDIETQTDFLLADTSAQSYTCRGNSNFLGLEMFDTQTQTDLNFFLDSSPHLPLGSILKHSSFSMSTDSSDTETQTEGISAAKIIPALESKVQLNNAETQTMNSGFETLGSLFFTSNETQTAMDDFLLADLAWNTMESQFSSVETQTCAELHPVSNF", "length": 807 }, "evidence": [ { "id": "O43313", "url": "https://omabrowser.org/oma/group/O43313/", "database": "OMA" } ], "common_name": "Pig" }, { "uniprot_canonical_ac": "F1LN81-1", "protein_name": "ATM interactor", "gene_name": "Atmin", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MAATEAAAAESAGPAPGVPVTPASTRGAAAASSPWRPSESRLQGSRPRLARARAAAPVPPARELIQPSVSELSRAVRTNILCTVRGCGKILPNSPALNMHLVKSHRLQDGIVNPTIRKDLKTVPKFYCCPIKGCPRGPDRPFSQFSLVKQHFMKMHAEKKHKCSKCSNSYGTEWDLRRHEEDCGKTFQCTCGCPYASRTALQSHIYRTGHEIPAEHRDPPSKKRKIESQTLSTKTIGPLGDQPAPRQDAHEPRASEVKLAASLEDSCSSHTKKQSFPTPPRCPQKLLLPKPKVALVKLPVMQFSPVPVFVPTADSSAQPVVLGVDHSSAAGAVHLVPLSVGTLILSLDSEACSLKESLPLSKIISPVVEPMNTGVQVNLGKSLCRPLQEGGSVCQKNSISSANVQTDLSYASANLIPSAQWLGPDSSVSSCSQTDLSFDSQVSLPVSVHTQTLVPSSKVTSSIAAQTDAFLDACFQPSGVSRETQTCRIQNRTDDPVPVGHPGLCGDIFEGVHSSYGVPSDNIMSSSLVAETVTHSLVPQSDPKILSQVMEKSAPVLNFSAQNSMLPSQNMTDNQTQTIDLLSDLENILSSNLPGQTLDNRSLLSDTNPGPDAQLPSGSAQNSGIDFDIEEFLSASNIQTQTEESELSSMSTEPVLESLDIETQTDLFLSDPCTQPYGLRAGSGFLGLEMFDTQTQTDLNFFLDSSPHLPLGSILRHSSFSMSTDSSDTETQTEGASPARHAPTLESKVQLSSTETQTMSSGFEPLGNLFLTSNETQTAMDDFLLADLAWNTMESQFSSVETQTCAELHAVSSF", "length": 814 }, "evidence": [ { "id": "45927696", "url": "http://www.informatics.jax.org/homology/45927696", "database": "MGI" }, { "id": "O43313", "url": "https://omabrowser.org/oma/group/O43313/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q6P9S1-1", "protein_name": "ATM interactor", "gene_name": "Atmin", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MAATEAAAADSAGPAPGVPATPASTRGAAAASSPWRPPESRLQGSRPRPARARAAAPVPPARELIQPTVSELSRAVRTNILCTVRGCGKILPNSPALNMHLVKSHRLQDGIVNPTIRKDLTTAPKFYCCPIKGCPRGPDRPFSQFSLVKQHFMKMHAEKKHKCSKCSNSYGTEWDLKRHEEDCGKTFQCTCGCPYASRTALQSHIYRTGHEIPAEHRDPPSKKRKMESYLQNQKLSSKTTEPLSDQAAPRQDAAEPDAPEVKPAASLEDSCSAHTKKQSVATPPRCPQKLLLPKPKVALVKLPVMQFSPVPVFVPTAESSAQPVVLGVDHSSAAGTVHLVPLSVGALILSLDSEACSLKESLPLSKIISPVVEPMNTGVQVNLGKSLCSPLQEVGSVCQRTSISSSNVQTDLTYASANLIPSAQWLGPDSSVSSCSQTDLSFDSQVSLPVSVHTQTLVPSSKVTSSIAAQTDAFIDACFQPGGVSRETQTSRMQNRTNDSVPVGHTGLCGDIFESVHASYSVPTDTIMSSSLVAETGTHGLPPQSDPKILGQVMEKSAPVLNFSTQNGLLPAHTMTDNQTQTIDLLSDLENILSSNLPGQTLDNRSLLSDTNPGPDAQLPAGSAQNSGIDFDIEEFLSASNIQTQTEESELSSMSTEPVLESLDIETQTDVLLSDPSTQPYGFRAGSGFLGLEMFDTQTQTDLNFFLDSSPHLPLGSILKHSSFSMSTDSSDTETQTEGACPARHLPALESKVQLSSTETQTMSSGFEPLGNLFLTSNETQTAMDDFLLADLAWNTMESQFSSVETQTCAELHAVSSF", "length": 818 }, "evidence": [ { "id": "45927696", "url": "http://www.informatics.jax.org/homology/45927696", "database": "MGI" }, { "id": "O43313", "url": "https://omabrowser.org/oma/group/O43313/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 2, "go_terms": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "O43313", "url": "https://www.uniprot.org/uniprot/O43313" } ], "pmid": "" }, { "name": "nuclear body", "id": "GO:0016604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016604", "evidence": [ { "database": "UniProtKB", "id": "O43313", "url": "https://www.uniprot.org/uniprot/O43313" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 7, "go_terms": [ { "name": "regulation of transcription by RNA polymerase II", "id": "GO:0006357", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006357", "evidence": [ { "database": "UniProtKB", "id": "O43313", "url": "https://www.uniprot.org/uniprot/O43313" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "O43313", "url": "https://www.uniprot.org/uniprot/O43313" } ], "pmid": "" }, { "name": "positive regulation of transcription by RNA polymerase II", "id": "GO:0045944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045944", "evidence": [ { "database": "UniProtKB", "id": "O43313", "url": "https://www.uniprot.org/uniprot/O43313" } ], "pmid": "" }, { "name": "DNA damage response", "id": "GO:0006974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006974", "evidence": [ { "database": "UniProtKB", "id": "O43313", "url": "https://www.uniprot.org/uniprot/O43313" } ], "pmid": "" }, { "name": "positive regulation of DNA-templated transcription", "id": "GO:0045893", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045893", "evidence": [ { "database": "UniProtKB", "id": "O43313", "url": "https://www.uniprot.org/uniprot/O43313" } ], "pmid": "" }, { "name": "motile cilium assembly", "id": "GO:0044458", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044458", "evidence": [ { "database": "UniProtKB", "id": "O43313", "url": "https://www.uniprot.org/uniprot/O43313" } ], "pmid": "" }, { "name": "positive regulation of non-motile cilium assembly", "id": "GO:1902857", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902857", "evidence": [ { "database": "UniProtKB", "id": "O43313", "url": "https://www.uniprot.org/uniprot/O43313" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 5, "go_terms": [ { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "O43313", "url": "https://www.uniprot.org/uniprot/O43313" } ], "pmid": "" }, { "name": "transcription cis-regulatory region binding", "id": "GO:0000976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000976", "evidence": [ { "database": "UniProtKB", "id": "O43313", "url": "https://www.uniprot.org/uniprot/O43313" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity, RNA polymerase II-specific", "id": "GO:0000981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000981", "evidence": [ { "database": "UniProtKB", "id": "O43313", "url": "https://www.uniprot.org/uniprot/O43313" } ], "pmid": "" }, { "name": "dynein complex binding", "id": "GO:0070840", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070840", "evidence": [ { "database": "UniProtKB", "id": "O43313", "url": "https://www.uniprot.org/uniprot/O43313" } ], "pmid": "" }, { "name": "DNA-binding transcription activator activity, RNA polymerase II-specific", "id": "GO:0001228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001228", "evidence": [ { "database": "UniProtKB", "id": "O43313", "url": "https://www.uniprot.org/uniprot/O43313" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 241, "end_pos": 243, "annotation": "n_glycosylation_sequon" }, { 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