{ "uniprot_canonical_ac": "Q9HAJ7-1", "uniprot_ac": "Q9HAJ7", "uniprot_id": "SP30L_HUMAN", "mass": { "chemical_mass": 20877.0, "monoisotopic_mass": 20877.0 }, "refseq": { "ac": "NP_001124534", "name": "histone deacetylase complex subunit SAP30L isoform 2", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001124534" }, "gene_names": [ { "name": "SAP30L", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q9HAJ7", "id": "Q9HAJ7" }, { "name": "NS4ATP2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001124534", "id": "NP_001124534" }, { "name": "NS4ATP2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q9HAJ7", "id": "Q9HAJ7" }, { "name": "SAP30L", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001124534", "id": "NP_001124534" } ], "protein_names": [ { "name": "Histone deacetylase complex subunit SAP30L", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q9HAJ7" }, { "name": "HCV non-structural protein 4A-transactivated protein 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9HAJ7" }, { "name": "Sin3 corepressor complex subunit SAP30L", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9HAJ7" }, { "name": "Sin3-associated protein p30-like", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9HAJ7" }, { "name": "Sin3A associated protein p30-like; histone deacetylase complex subunit SAP30L; sin3-associated protein p30-like; sin3 corepressor complex subunit SAP30L; HCV non-structural protein 4A-transactivated protein 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001124534", "id": "NP_001124534" }, { "name": "histone deacetylase complex subunit SAP30L isoform 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001124534", "id": "NP_001124534" } ], "function": [ { "annotation": "Functions as transcription repressor, probably via its interaction with histone deacetylase complexes (PubMed:16820529, PubMed:18070604). Involved in the functional recruitment of the class 1 Sin3-histone deacetylase complex (HDAC) to the nucleolus (PubMed:16820529). Binds DNA, apparently without sequence-specificity, and bends bound double-stranded DNA (PubMed:19015240). Binds phosphoinositol phosphates (phosphoinositol 3-phosphate, phosphoinositol 4-phosphate and phosphoinositol 5-phosphate) via the same basic sequence motif that mediates DNA binding and nuclear import (PubMed:19015240, PubMed:26609676).", "evidence": [ { "database": "UniProtKB", "id": "Q9HAJ7", "url": "https://www.uniprot.org/uniprot/Q9HAJ7#function" }, { "database": "PubMed", "id": "26609676", "url": "https://glygen.org/publication/PubMed/26609676" }, { "database": "PubMed", "id": "16820529", "url": "https://glygen.org/publication/PubMed/16820529" }, { "database": "PubMed", "id": "18070604", "url": "https://glygen.org/publication/PubMed/18070604" }, { "database": "PubMed", "id": "19015240", "url": "https://glygen.org/publication/PubMed/19015240" } ] }, { "annotation": "Functions as transcription repressor; isoform 2 has lower transcription repressor activity than isoform 1 and isoform 3.", "evidence": [ { "database": "UniProtKB", "id": "Q9HAJ7", "url": "https://www.uniprot.org/uniprot/Q9HAJ7#function" }, { "database": "PubMed", "id": "18070604", "url": "https://glygen.org/publication/PubMed/18070604" } ] }, { "annotation": "Functions as transcription repressor; its activity is marginally lower than that of isoform 1.", "evidence": [ { "database": "UniProtKB", "id": "Q9HAJ7", "url": "https://www.uniprot.org/uniprot/Q9HAJ7#function" }, { "database": "PubMed", "id": "18070604", "url": "https://glygen.org/publication/PubMed/18070604" } ] }, { "annotation": "Results show that expression of SAP30L was negatively associated with that of SAP30L-AS1 in prostate cancer specimens. Its expression is directly repressed by SAP30L-AS1 in prostate neoplasm. Also, SAP30L overexpression attenuated the roles of SAP30L-AS1 in prostate cancer proliferation and apoptosis.", "evidence": [ { "database": "RefSeq", "id": "NP_001124534", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001124534" }, { "database": "PubMed", "id": "30599235", "url": "https://glygen.org/publication/PubMed/30599235" } ] }, { "annotation": "SAP30L, a nuclear protein, is upregulated by transforming growth factor-beta in intestinal epithelial cells Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001124534", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001124534" }, { "database": "PubMed", "id": "14680513", "url": "https://glygen.org/publication/PubMed/14680513" } ] }, { "annotation": "Upon oxidative stress SAP30L undergoes the formation of two specific disulfide bonds, a vicinal Cys29-Cys30 and Cys38-Cys74, with a concomitant release of the coordinated zinc ion. The oxidized protein was shown to remain folded in solution and to bind signaling phospholipids.", "evidence": [ { "database": "RefSeq", "id": "NP_001124534", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001124534" }, { "database": "PubMed", "id": "26609676", "url": "https://glygen.org/publication/PubMed/26609676" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "Q9HAJ7", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/Q9HAJ7" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 176, "end_pos": 176, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "L", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "5", "chr_pos": "154456003", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S176", "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: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": "" } ] }, { "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": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "mutagenesis": [ { "start_pos": 109, "end_pos": 113, "sequence_org": "VDLFQ", "sequence_mut": "", "comment": "Reduces transcriptional repressor activity, reduces localization in nucleoli, but has no effect on association with histone deacylase complexes.", "evidence": [ { "database": "UniProtKB", "id": "Q9HAJ7", "url": "https://www.uniprot.org/uniprot/Q9HAJ7" }, { "database": "PubMed", "id": "18070604", "url": "https://glygen.org/publication/PubMed/18070604" } ] }, { "start_pos": 120, "end_pos": 127, "sequence_org": "RRYKRHYK", "sequence_mut": "AAAAAAAA", "comment": "Abolishes nucleolar localization.", "evidence": [ { "database": "UniProtKB", "id": "Q9HAJ7", "url": "https://www.uniprot.org/uniprot/Q9HAJ7" }, { "database": "PubMed", "id": "16820529", "url": "https://glygen.org/publication/PubMed/16820529" } ] }, { "start_pos": 88, "end_pos": 89, "sequence_org": "RK", "sequence_mut": "KS", "comment": "Impairs nuclear localization.", "evidence": [ { "database": "UniProtKB", "id": "Q9HAJ7", "url": "https://www.uniprot.org/uniprot/Q9HAJ7" }, { "database": "PubMed", "id": "14680513", "url": "https://glygen.org/publication/PubMed/14680513" } ] }, { "start_pos": 88, "end_pos": 90, "sequence_org": "RKR", "sequence_mut": "AAA", "comment": "Strongly reduces affinity for DNA and for phosphoinositides.", "evidence": [ { "database": "UniProtKB", "id": "Q9HAJ7", "url": "https://www.uniprot.org/uniprot/Q9HAJ7" }, { "database": "PubMed", "id": "19015240", "url": "https://glygen.org/publication/PubMed/19015240" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "79.72", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000164576", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000164576" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "84.71", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000164576", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000164576" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "82.2", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000164576", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000164576" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "49.96", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000164576", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000164576" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "93.18", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000164576", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000164576" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "91.79", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000164576", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000164576" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "66.71", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000164576", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000164576" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "91.1", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000164576", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000164576" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "90.86", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000164576", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000164576" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "64.05", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000164576", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000164576" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "86.97", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000164576", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000164576" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "90.59", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000164576", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000164576" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "90.6", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000164576", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000164576" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "Q9HAJ7", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9HAJ7" } ], "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", 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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": 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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": "Yes", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "Q9HAJ7", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9HAJ7" } ], "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/Q9HAJ7" } ], "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": [ { "database": "BioXpress", "id": "Q9HAJ7", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9HAJ7" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", 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