{ "uniprot_canonical_ac": "O00115-1", "uniprot_ac": "O00115", "uniprot_id": "DNS2A_HUMAN", "mass": { "chemical_mass": 39581.0, "monoisotopic_mass": 39581.0 }, "refseq": { "ac": "NP_001366", "name": "deoxyribonuclease-2-alpha precursor", "summary": "This gene encodes a member of the DNase family. The protein, located in the lysosome, hydrolyzes DNA under acidic conditions and mediates the breakdown of DNA during erythropoiesis and apoptosis. Two codominant alleles have been characterized, DNASE2*L (low activity) and DNASE2*H (high activity), that differ at one nucleotide in the promoter region. The DNASE2*H allele is represented in this record. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001366" }, "gene_names": [ { "name": "DNASE2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O00115", "id": "O00115" }, { "name": "AIPCS; DNASE2A; DNL; DNL2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001366", "id": "NP_001366" }, { "name": "DNASE2A", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O00115", "id": "O00115" }, { "name": "DNASE2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001366", "id": "NP_001366" }, { "name": "DNL2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O00115", "id": "O00115" } ], "protein_names": [ { "name": "Deoxyribonuclease-2-alpha", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O00115" }, { "name": "3.1.22.1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00115" }, { "name": "Acid DNase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00115" }, { "name": "DNase II alpha", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00115" }, { "name": "Deoxyribonuclease II alpha", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00115" }, { "name": "Lysosomal DNase II", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00115" }, { "name": "R31240_2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00115" }, { "name": "acid DNase; R31240_2; DNase II alpha; deoxyribonuclease-2-alpha; DNase II, lysosomal; lysosomal DNase II; deoxyribonuclease II alpha; deoxyribonuclease II, lysosomal", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001366", "id": "NP_001366" }, { "name": "deoxyribonuclease-2-alpha precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001366", "id": "NP_001366" } ], "function": [ { "annotation": "DNase2 participate in the degradation of DNA during cornification in the interfollicular epidermis of mice.Cornification of epidermal keratinocytes depends on the cooperation of DNase1L2 and DNase2. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001366", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001366" }, { "database": "PubMed", "id": "28743926", "url": "https://glygen.org/publication/PubMed/28743926" } ] }, { "annotation": "Hydrolyzes DNA under acidic conditions with a preference for double-stranded DNA. Plays a major role in the clearance of nucleic acids generated through apoptosis, hence preventing autoinflammation (PubMed:29259162, PubMed:31775019). Necessary for proper fetal development and for definitive erythropoiesis in fetal liver and bone marrow, where it degrades nuclear DNA expelled from erythroid precursor cells (PubMed:29259162).", "evidence": [ { "database": "UniProtKB", "id": "O00115", "url": "https://www.uniprot.org/uniprot/O00115#function" }, { "database": "PubMed", "id": "31775019", "url": "https://glygen.org/publication/PubMed/31775019" }, { "database": "PubMed", "id": "29259162", "url": "https://glygen.org/publication/PubMed/29259162" } ] }, { "annotation": "Single nucleotide polymorphisms producing a loss-of-function variant of the enzymes in DNASE1, DNASE1L3, and DNASE2, possibly serving as a genetic risk factor for autoimmune diseases, were confirmed.", "evidence": [ { "database": "RefSeq", "id": "NP_001366", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001366" }, { "database": "PubMed", "id": "27116004", "url": "https://glygen.org/publication/PubMed/27116004" } ] }, { "annotation": "Study identifies biallelic mutations in DNASE2, associated with a loss of DNase II endonuclease activity causing type I interferonopathy in three patients from two unrelated families. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001366", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001366" }, { "database": "PubMed", "id": "29259162", "url": "https://glygen.org/publication/PubMed/29259162" } ] }, { "annotation": "Study of the copy number variations (CNVs) for DNASE1L3 and DNASE2 in Japanese and German populations found that only 2 diploid copy numbers for these DNASE CNVs was distributed in both populations; no copy loss or gain was evident for any of the autoimmune-related DNase genes. These human autoimmune-related DNase genes show low genetic diversity of CNVs resulting in alterations of the in vivo levels of DNase activity. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001366", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001366" }, { "database": "PubMed", "id": "31022206", "url": "https://glygen.org/publication/PubMed/31022206" } ] }, { "annotation": "This gene encodes a member of the DNase family. The protein, located in the lysosome, hydrolyzes DNA under acidic conditions and mediates the breakdown of DNA during erythropoiesis and apoptosis. Two codominant alleles have been characterized, DNASE2*L (low activity) and DNASE2*H (high activity), that differ at one nucleotide in the promoter region. The DNASE2*H allele is represented in this record. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_001366", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001366" } ] } ], "disease": [ { "disease_id": "MONDO:0800132", "recommended_name": { "id": "MONDO:0800132", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0800132", "name": "autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency", "description": "An autosomal recessive disorder characterized by severe anemia and thrombocytopenia apparent from early infancy, hepatosplenomegaly, and recurrent fevers associated with a hyperinflammatory state. Additional systemic features may include chronic diarrhea, proteinuria with renal disease, liver fibrosis with elevated liver enzymes, deforming arthropathy, and vasculitic skin lesions. Some patients may have motor delay or learning difficulties associated with subcortical white matter lesions on brain imaging. Laboratory studies show increased levels of proinflammatory cytokines and increased expression of interferon-stimulated genes (ISGs), consistent with a type I interferonopathy." }, "synonyms": [ { "id": "MIM:619858", "resource": "MIM", "url": "https://www.omim.org/entry/619858", "name": "Autoinflammatory-pancytopenia syndrome", "description": "Autoinflammatory-pancytopenia syndrome" } ], "evidence": [ { "id": "619858", "database": "MIM", "url": "https://www.omim.org/entry/619858" } ] } ], "snv": [ { "evidence": [ { "id": "rs913078395", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs913078395" }, { "id": "rs913078395", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs913078395" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 107, "end_pos": 107, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DSS->NSS).", "chr_id": "19", "chr_pos": "12880829", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D107", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs778611100", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778611100" }, { "id": "rs778611100", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778611100" }, { "id": "rs778611100", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs778611100#frequency_tab" }, { "id": "rs778611100", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs778611100" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 212, "end_pos": 212, "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NSS->KSS).", "chr_id": "19", "chr_pos": "12878455", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N212", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1250254733", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1250254733" }, { "id": "rs1250254733", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1250254733#frequency_tab" }, { "id": "rs1250254733", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1250254733" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 213, "end_pos": 213, "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NSS->NPS).", "chr_id": "19", "chr_pos": "12876271", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S213", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O00115", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O00115" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 266, "end_pos": 266, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "N", "sequence_mut": "T", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NCS->TCS).", "chr_id": "19", "chr_pos": "12876276", "ref_nt": "T", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "N266", "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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs758994638", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758994638" }, { "id": "rs758994638", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758994638" }, { "id": "rs758994638", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs758994638#frequency_tab" }, { "id": "rs758994638", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs758994638" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 268, "end_pos": 268, "sequence_org": "S", "sequence_mut": "L", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NCS->NCL).", "chr_id": "19", "chr_pos": "12876270", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S268", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1250254733", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1250254733" }, { "id": "rs1250254733", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1250254733#frequency_tab" }, { "id": "rs1250254733", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1250254733" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 268, "end_pos": 268, "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NCS->NCP).", "chr_id": "19", "chr_pos": "12876271", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S268", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs767262705", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767262705" }, { "id": "rs767262705", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767262705" }, { "id": "rs767262705", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs767262705" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 277, "end_pos": 277, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NVN->NVS).", "chr_id": "19", "chr_pos": "12876243", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N277", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs375552010", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs375552010" }, { "id": "rs375552010", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs375552010" }, { "id": "rs375552010", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs375552010#frequency_tab" }, { "id": "rs375552010", "database": "gnomAD", "url": 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"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 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"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", 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"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": "No", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O00115", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00115" } ], "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", 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"https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O00115", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00115" } ], "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 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"https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the 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"https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O00115", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00115" } ], "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": "down", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "O00115", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00115" } ], "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 kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "O00115", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00115" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O00115", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00115" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "O00115", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00115" } ], "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": "No", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "O00115", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00115" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "O00115", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00115" } ], "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, 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"start_pos": 212, "start_aa": "Asn", "end_pos": 212, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn212", "evidence": [ { "id": "O00115", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00115#ptm_processing" }, { "id": "12754519", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/12754519" }, { "id": "19159218", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19159218" }, { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" } ] }, { "glytoucan_ac": "G72735IY", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 266, "start_aa": "Asn", "end_pos": 266, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn266", "evidence": [ { "id": "1170", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1170" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 266, "start_aa": "Asn", "end_pos": 266, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn266", "evidence": [ { "id": "O00115", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00115#ptm_processing" }, { "id": "23090970", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23090970" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" }, { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 290, "start_aa": "Asn", "end_pos": 290, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn290", "evidence": [ { "id": "O00115", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00115#ptm_processing" }, { "id": "23090970", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23090970" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" }, { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" } ] }, { "glytoucan_ac": "G70101JE", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 86, "start_aa": "Asn", "end_pos": 86, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn86", "evidence": [ { "id": "1170", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1170" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 86, "start_aa": "Asn", "end_pos": 86, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn86", "evidence": [ { "id": "O00115", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00115#ptm_processing" }, { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_reported", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Functional organization of clathrin in coats: combining electron cryomicroscopy and X-ray crystallography.", "journal": "Molecular cell", "date": "1999", "authors": "Musacchio A, Smith CJ, Roseman AM, Harrison SC, Kirchhausen T, Pearse BM", "evidence": [ { "database": "Reactome", "id": "R-HSA-432720", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432720" } ], "reference": [ { "type": "PubMed", "id": "10394364", "url": "https://glygen.org/publication/PubMed/10394364" } ] }, { "title": "Characterization of a fourth adaptor-related protein complex.", "journal": "Molecular biology of the cell", "date": "1999", "authors": "Hirst J, Bright NA, Rous B, Robinson MS", "evidence": [ { "database": "Reactome", "id": "R-HSA-432720", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432720" } ], "reference": [ { "type": "PubMed", "id": "10436028", "url": "https://glygen.org/publication/PubMed/10436028" } ] }, { "title": "Signal-binding specificity of the mu4 subunit of the adaptor protein complex AP-4.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Aguilar RC, Boehm M, Gorshkova I, Crouch RJ, Tomita K, Saito T, Ohno H, Bonifacino JS", "evidence": [ { "database": "Reactome", "id": "R-HSA-432720", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432720" } ], "reference": [ { "type": "PubMed", "id": "11139587", "url": "https://glygen.org/publication/PubMed/11139587" } ] }, { "title": "Hepatitis B virus large envelope protein interacts with gamma2-adaptin, a clathrin adaptor-related protein.", "journal": "Journal of virology", "date": "2001", "authors": "Hartmann-Stuhler C, Prange R", "evidence": [ { "database": "Reactome", "id": "R-HSA-432720", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432720" } ], "reference": [ { "type": "PubMed", "id": "11333915", "url": "https://glygen.org/publication/PubMed/11333915" } ] }, { "title": "Generation of high curvature membranes mediated by direct endophilin bilayer interactions.", "journal": "The Journal of cell biology", "date": "2001", "authors": "Farsad K, Ringstad N, Takei K, Floyd SR, Rose K, De Camilli P", "evidence": [ { "database": "Reactome", "id": "R-HSA-432720", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432720" } ], "reference": [ { "type": "PubMed", "id": "11604418", "url": "https://glygen.org/publication/PubMed/11604418" } ] }, { "title": "GGAs: roles of the different domains and comparison with AP-1 and clathrin.", "journal": "Molecular biology of the cell", "date": "2001", "authors": "Hirst J, Lindsay MR, Robinson MS", "evidence": [ { "database": "Reactome", "id": "R-HSA-432720", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432720" } ], "reference": [ { "type": "PubMed", "id": "11694590", "url": "https://glygen.org/publication/PubMed/11694590" } ] }, { "title": "Revised structure of the active form of human deoxyribonuclease IIalpha.", "journal": "Biochemical and biophysical research communications", "date": "2002", "authors": "MacLea KS, Krieser RJ, Eastman A", "evidence": [ { "database": "UniProtKB", "id": "O00115", "url": "https://www.uniprot.org/uniprot/O00115" } ], "reference": [ { "type": "PubMed", "id": "11906178", "url": "https://glygen.org/publication/PubMed/11906178" } ] }, { "title": "Regulated transport of the glucose transporter GLUT4.", "journal": "Nature reviews. Molecular cell biology", "date": "2002", "authors": "Bryant NJ, Govers R, James DE", "evidence": [ { "database": "Reactome", "id": "R-HSA-432720", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432720" } ], "reference": [ { "type": "PubMed", "id": "11994746", "url": "https://glygen.org/publication/PubMed/11994746" } ] }, { "title": "Structural requirements of human DNase II alpha for formation of the active enzyme: the role of the signal peptide, N-glycosylation, and disulphide bridging.", "journal": "The Biochemical journal", "date": "2003", "authors": "MacLea KS, Krieser RJ, Eastman A", "evidence": [ { "database": "UniProtKB", "id": "O00115", "url": "https://www.uniprot.org/uniprot/O00115" } ], "reference": [ { "type": "PubMed", "id": "12558498", "url": "https://glygen.org/publication/PubMed/12558498" } ] }, { "title": "A family history of deoxyribonuclease II: surprises from Trichinella spiralis and Burkholderia pseudomallei.", "journal": "Gene", "date": "2003", "authors": 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"Journal of cell science", "date": "2005", "authors": "Lee DW, Zhao X, Zhang F, Eisenberg E, Greene LE", "evidence": [ { "database": "Reactome", "id": "R-HSA-432720", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432720" } ], "reference": [ { "type": "PubMed", "id": "16155256", "url": "https://glygen.org/publication/PubMed/16155256" } ] }, { "title": "Gamma-adaptin, a novel ubiquitin-interacting adaptor, and Nedd4 ubiquitin ligase control hepatitis B virus maturation.", "journal": "The Journal of biological chemistry", "date": "2006", "authors": "Rost M, Mann S, Lambert C, Doring T, Thome N, Prange R", "evidence": [ { "database": "Reactome", "id": "R-HSA-432720", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432720" } ], "reference": [ { "type": "PubMed", "id": "16867982", "url": "https://glygen.org/publication/PubMed/16867982" } ] }, { "title": "Comparative proteomics of clathrin-coated vesicles.", "journal": "The Journal of cell biology", "date": "2006", "authors": "Borner GH, Harbour M, Hester S, Lilley KS, Robinson MS", "evidence": [ { "database": "Reactome", "id": "R-HSA-432720", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432720" } ], "reference": [ { "type": "PubMed", "id": "17116749", "url": "https://glygen.org/publication/PubMed/17116749" } ] }, { "title": "Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.", "journal": "Journal of proteome research", "date": "2009", "authors": "Chen R, Jiang X, Sun D, Han G, Wang F, Ye M, Wang L, Zou H", "evidence": [ { "database": "UniProtKB", "id": "O00115", "url": "https://www.uniprot.org/uniprot/O00115#ptm_processing" }, { "database": "UniProtKB", "id": "O00115", "url": "https://www.uniprot.org/uniprot/O00115" } ], "reference": [ { "type": "PubMed", "id": "19159218", "url": "https://glygen.org/publication/PubMed/19159218" } ] }, { "title": "Mutation in the AP4M1 gene provides a model for neuroaxonal injury in cerebral palsy.", "journal": "American journal of human genetics", "date": "2009", "authors": "Verkerk AJ, Schot R, Dumee B, Schellekens K, Swagemakers S, Bertoli-Avella AM, Lequin MH, Dudink J, Govaert P, van Zwol AL, Hirst J, Wessels MW, Catsman-Berrevoets C, Verheijen FW, de Graaff E, de Coo IF, Kros JM, Willemsen R, Willems PJ, van der Spek PJ, Mancini GM", "evidence": [ { "database": "Reactome", "id": "R-HSA-432720", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432720" } ], "reference": [ { "type": "PubMed", "id": "19559397", "url": "https://glygen.org/publication/PubMed/19559397" } ] }, { "title": "The clavesin family, neuron-specific lipid- and clathrin-binding Sec14 proteins regulating lysosomal morphology.", "journal": "The Journal of biological chemistry", "date": "2009", "authors": "Katoh Y, Ritter B, Gaffry T, Blondeau F, Honing S, McPherson PS", "evidence": [ { "database": "Reactome", "id": "R-HSA-432720", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432720" } ], 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Iida R, Takeshita H, Yasuda T", "evidence": [ { "database": "RefSeq", "id": "NP_001366", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001366" } ], "reference": [ { "type": "PubMed", "id": "27116004", "url": "https://glygen.org/publication/PubMed/27116004" } ] }, { "title": "Inactivation of DNase1L2 and DNase2 in keratinocytes suppresses DNA degradation during epidermal cornification and results in constitutive parakeratosis.", "journal": "Scientific reports", "date": "2017", "authors": "Fischer H, Buchberger M, Napirei M, Tschachler E, Eckhart L", "evidence": [ { "database": "RefSeq", "id": "NP_001366", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001366" } ], "reference": [ { "type": "PubMed", "id": "28743926", "url": "https://glygen.org/publication/PubMed/28743926" } ] }, { "title": "Type I interferon-mediated autoinflammation due to DNase II deficiency.", "journal": "Nature communications", "date": "2017", "authors": "Rodero MP, Tesser A, Bartok E, Rice GI, Della Mina E, Depp 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Genetic variations that affect N-glycosylation sites reduce activity, but enzymatic deglycosylation has no effect.", "evidence": [ { "database": "UniProtKB", "id": "O00115", "url": "https://www.uniprot.org/uniprot/O00115" }, { "database": "PubMed", "id": "11906178", "url": "https://glygen.org/publication/PubMed/11906178" }, { "database": "PubMed", "id": "19159218", "url": "https://glygen.org/publication/PubMed/19159218" }, { "database": "PubMed", "id": "12754519", "url": "https://glygen.org/publication/PubMed/12754519" }, { "database": "PubMed", "id": "12558498", "url": "https://glygen.org/publication/PubMed/12558498" } ] } ], "interactions": [], "reactions": [ { "id": "R-HSA-432688", "name": "trans-Golgi Network Derived Lysosomal Vesicle Uncoating", "equation": "", "summary": "The heat shock protein Hsc70 and auxilin, a J-domain containing protein, are responsible for clathrin disassembly through an ATP-dependent reaction. This uncoating step may be a point in the pathway subject to regulation. This final step releases the vesicle from the clathrin cage. The vesicle still contatins a specific Vamp molecule, part of the targeting and fusion mechanism that delivers the vesicle to its ultimate destination. This vesicle also contains its cargo, membrane proteins embeded in the lysosome membrane.", "cellular_location": "cytosol", "input_participant_list": [], "output_participant_list": [ "R-HSA-167717", "R-HSA-264470" ], "enzyme_list": [ "Q9UBR2-1", "P15586-1", "P11142-1", "Q8NBS9-1", "O00115-1", "O75061-1" ], "evidence": [ { "id": "R-HSA-432688", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432688" } ] }, { "id": "R-HSA-432706", "name": "trans-Golgi Network Lysosome Vesicle Destined Membrane Coat Assembly", "equation": "", "summary": "Once the basic components of the docking complex are assembled with one end of AP-1 bound to cargo molecules, the other end binds to clathrin. Clathrin triskelions polymerize into hexagons and pentagons, forming a cage, which leads to membrane deformation. This polymerization step drives the sculpting of the lysosome vesicle. Here only 5 clathrin triskelions are represented, though in reality many more would be involved in sculpting an entire vesicle.", "cellular_location": "Golgi membrane, cytosol", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q9UBR2-1", "P15586-1", "P50570-1", "P84077-1", "Q8NBS9-1", "O00115-1" ], "evidence": [ { "id": "R-HSA-432706", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432706" } ] }, { "id": "R-HSA-432707", "name": "trans-Golgi Network Lysosomal Vesicle Scission", "equation": "", "summary": "Dynamin is recruited to the growing lysosome destined vesicle and, under conditions that interfere with its GTPase activity, dynamin forms a collar or ring around the neck of the budding vesicle. It is unclear whether dynamin acts as a mechanochemical transducer to generate fission or as a recruiter to attach other proteins that are directly responsible for the fission step. Lipid-modifying enzymes such as endophilin are also involved in vesicle formation. Endophilin is an acyltransferase that interacts with dynamin and that generates lysophosphatidic acid. The current view is that this reaction produces a negative curvature at the neck of the vesicle.", "cellular_location": "cytosol", "input_participant_list": [], "output_participant_list": [ "R-HSA-182958", "R-HSA-2213180" ], "enzyme_list": [ "Q9UBR2-1", "P15586-1", "P50570-1", "Q8NBS9-1", "O00115-1" ], "evidence": [ { "id": "R-HSA-432707", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432707" } ] }, { "id": "R-HSA-432712", "name": "Vamp And trans-Golgi Network AP-1 Binding Coupled With Cargo Capture On Lysosome Vesicle Destined Golgi Membrane", "equation": "", "summary": "Once AP-1 is recruited to the trans-Golgi Network membrane the complex of functional vesicle building proteins is joined by the cargo that will be within that vesicle. As with other types of vesicles the cargo itself is part of the vesicle development. Here the cargo is destined for the lysosome membrane. It is at this stage that a specific Synaptobrevin (Vamp) molecule also joins the complex. It should be noted that only certain Vamp molecules will be found with specific cargo molecules on the newly forming vesicles. However here we represent this reaction in bulk, without specific Vamp and cargo molecule pairings.", "cellular_location": "cytosol", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q9UBR2-1", "P15586-1", "P84077-1", "Q8NBS9-1", "O00115-1" ], "evidence": [ { "id": "R-HSA-432712", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432712" } ] } ], "reaction_participants": [ { "participant_id": "R-HSA-167717", "participant_name": "AP-1 Complex [cytosol]", "crossref": [ { "id": "CPX-5047", "database": "ComplexPortal", "url": "" }, { "id": "CPX-5048", "database": "ComplexPortal", "url": "" }, { "id": "CPX-5050", "database": "ComplexPortal", "url": "" }, { "id": "CPX-5049", "database": "ComplexPortal", "url": "" } ] }, { "participant_id": "R-HSA-182958", "participant_name": "SH3GL2 [cytosol]", "crossref": [ { "id": "ENSG00000107295", "database": "Ensembl", "url": "" }, { "id": "1X03", "database": "PDB", "url": "" }, { "id": "Q99962", "database": "Pharos - Targets", "url": "" }, { "id": "Q99962", "database": "UniProt", "url": "" }, { "id": "2D4C", "database": "PDB", "url": "" }, { "id": "2DBM", "database": "PDB", "url": "" }, { "id": "ENST00000380607", "database": "Ensembl", "url": "" }, { "id": "Q99962", "database": "PRO", "url": "" }, { "id": "1X04", "database": "PDB", "url": "" }, { "id": "NP_003017.1", "database": "RefSeq", "url": "" }, { "id": "Q99962", "database": "GeneCards", "url": "" }, { "id": "ENSG00000107295", "database": "OpenTargets", "url": "" }, { "id": "ENSG00000107295-SH3GL2", "database": "HPA", "url": "" }, { "id": "ENSP00000369981", "database": "Ensembl", "url": "" } ] }, { "participant_id": "R-HSA-2213180", "participant_name": "DNM2 [cytosol]", "crossref": [ { "id": "ENSP00000347890", "database": "Ensembl", "url": "" }, { "id": "NP_004936.2", "database": "RefSeq", "url": "" }, { "id": "ENST00000355667", "database": "Ensembl", "url": "" }, { "id": "P50570", "database": "GeneCards", "url": "" }, { "id": "ENST00000359692", "database": "Ensembl", "url": "" }, { "id": "DYN2_HUMAN", "database": "ZINC - Predictions - Purchasable", "url": "" }, { "id": "2YS1", "database": "PDB", "url": "" }, { "id": "ENSG00000079805-DNM2", "database": "HPA", "url": "" }, { "id": "P50570", "database": "Pharos - Targets", "url": "" }, { "id": "NP_001177645.1", "database": "RefSeq", "url": "" }, { "id": "ENSP00000386192", "database": "Ensembl", "url": "" }, { "id": "DYN2_HUMAN", "database": "ZINC - Substances", "url": "" }, { "id": "ENSP00000352721", "database": "Ensembl", "url": "" }, { "id": "P50570", "database": "ZINC target", "url": "" }, { "id": "HMDBP08364", "database": "HMDB Protein", "url": "" }, { "id": "3.6.5.5", "database": "IntEnz", "url": "" }, { "id": "P50570", "database": "PRO", "url": "" }, { "id": "ENSG00000079805", "database": "OpenTargets", "url": "" }, { "id": "15882", "database": "Orphanet", "url": "" }, { "id": "ENST00000408974", "database": "Ensembl", "url": "" }, { "id": "NP_001005362.1", "database": "RefSeq", "url": "" }, { "id": "ENST00000585892", "database": "Ensembl", "url": "" }, { "id": "P50570", "database": "UniProt", "url": "" }, { "id": "ENSP00000373905", "database": "Ensembl", "url": "" }, { "id": "ENSG00000079805", "database": "Ensembl", "url": "" }, { "id": "NP_001005361.1", "database": "RefSeq", "url": "" }, { "id": "ENST00000389253", "database": "Ensembl", "url": "" }, { "id": "NP_001005360.1", "database": "RefSeq", "url": "" }, { "id": "ENSP00000468734", "database": "Ensembl", "url": "" } ] }, { "participant_id": "R-HSA-264470", "participant_name": "ARRB1 [cytosol]", "crossref": [ { "id": "ENSG00000137486-ARRB1", "database": "HPA", "url": "" }, { "id": "ENSP00000409581", "database": "Ensembl", "url": "" }, { "id": "P49407", "database": "GeneCards", "url": "" }, { "id": "8AS2", "database": "PDB", "url": "" }, { "id": "7SRS", "database": "PDB", "url": "" }, { "id": "ENSG00000137486", "database": "Ensembl", "url": "" }, { "id": "NP_064647.1", "database": "RefSeq", "url": "" }, { "id": "8AS4", "database": "PDB", "url": "" }, { "id": "7R0J", "database": "PDB", "url": "" }, { "id": "ENST00000360025", "database": "Ensembl", "url": "" }, { "id": "ENSG00000137486", "database": "OpenTargets", "url": "" }, { "id": "P49407", "database": "UniProt", "url": "" }, { "id": "7R0C", "database": "PDB", "url": "" }, { "id": "6PWC", "database": "PDB", "url": "" }, { "id": "6TKO", "database": "PDB", "url": "" }, { "id": "P49407", "database": "Pharos - Targets", "url": "" }, { "id": "ENSP00000353124", "database": "Ensembl", "url": "" }, { "id": "NP_004032.2", "database": "RefSeq", "url": "" }, { "id": "ENST00000420843", "database": "Ensembl", "url": "" }, { "id": "2IV8", "database": "PDB", "url": "" }, { "id": "8AS3", "database": "PDB", "url": "" }, { "id": "P49407", "database": "PRO", "url": "" }, { "id": "6UP7", "database": "PDB", "url": "" } ] } ], "reaction_enzymes": [ { "uniprot_ac": "O00115", "gene_name": "DNASE2", "activity": [ { "ec_number": "3.1.22.1", "activity": "Endonucleolytic cleavage to nucleoside 3'-phosphates and 3'-phosphooligonucleotide end-products.", "evidence": [ { "id": "O00115", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00115" } ] }, { "ec_number": "3.1.22.1", "activity": "", "evidence": [ { "id": "O00115", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00115" } ] } ] }, { "uniprot_ac": "O75061", "gene_name": "DNAJC6", "activity": [ { "ec_number": "3.1.3.48", "activity": "H2O + O-phospho-L-tyrosyl-[protein] = L-tyrosyl-[protein] + phosphate.", "evidence": [ { "id": "O75061", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75061" } ] }, { "ec_number": "3.1.3.48", "activity": "", "evidence": [ { "id": "O75061", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75061" } ] } ] }, { "uniprot_ac": "P11142", "gene_name": "HSPA8", "activity": [ { "ec_number": "3.6.4.10", "activity": "ATP + H2O = ADP + H(+) + phosphate.", "evidence": [ { "id": "P11142", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P11142" } ] }, { "ec_number": "3.6.4.10", "activity": "", "evidence": [ { "id": "P11142", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P11142" } ] } ] }, { "uniprot_ac": "P15586", "gene_name": "GNS", "activity": [ { "ec_number": "3.1.6.14", "activity": "Hydrolysis of the 6-sulfate groups of the N-acetyl-D-glucosamine 6-sulfate units of heparan sulfate and keratan sulfate.", "evidence": [ { "id": "P15586", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P15586" } ] }, { "ec_number": "3.1.6.14", "activity": "", "evidence": [ { "id": "P15586", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P15586" } ] } ] }, { "uniprot_ac": "P50570", "gene_name": "DNM2", "activity": [ { "ec_number": "3.6.5.5", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P50570", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P50570" } ] }, { "ec_number": "3.6.5.5", "activity": "", "evidence": [ { "id": "P50570", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P50570" } ] } ] }, { "uniprot_ac": "P84077", "gene_name": "ARF1", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P84077", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P84077" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P84077", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P84077" } ] } ] }, { "uniprot_ac": "Q8NBS9", "gene_name": "TXNDC5", "activity": [ { "ec_number": "1.8.4.-", "activity": "", "evidence": [ { "id": "Q8NBS9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8NBS9" } ] }, { "ec_number": "5.3.4.1", "activity": "Catalyzes the rearrangement of -S-S- bonds in proteins.", "evidence": [ { "id": "Q8NBS9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8NBS9" } ] }, { "ec_number": "5.3.4.1", "activity": "", "evidence": [ { "id": "Q8NBS9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8NBS9" } ] } ] }, { "uniprot_ac": "Q9UBR2", "gene_name": "CTSZ", "activity": [ { "ec_number": "3.4.18.1", "activity": "Release of C-terminal amino acid residues with broad specificity, but lacks action on C-terminal proline. Shows weak endopeptidase activity.", "evidence": [ { "id": "Q9UBR2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9UBR2" } ] }, { "ec_number": "3.4.18.1", "activity": "", "evidence": [ { "id": "Q9UBR2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9UBR2" } ] } ] } ], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.oma", "label": "OMA Homologs" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "sequence_features": { "n_linked_sites": [ 86, 212, 266, 290 ], "o_linked_sites": [], "snv_sites": [ 55, 71, 85, 86, 88, 107, 212, 213, 266, 268, 277, 279, 290, 292, 294 ], "glycation_sites": [], "phosphorylation_sites": [], "sequon_annotation_sites": [ { "start_pos": 212, "end_pos": 214 }, { "start_pos": 266, "end_pos": 268 }, { "start_pos": 290, "end_pos": 292 }, { "start_pos": 86, "end_pos": 88 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 6 }, { "field": "total_sites", "count": 4 }, { "field": "n_linked_glycans", "count": 2 }, { "field": "n_linked_glycan_sites", "count": 6 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 4 }, { "field": "total_sites", "count": 4 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 4 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 }, { "field": "n_linked_glycans", "count": 2 }, { "field": "n_linked_glycan_sites", "count": 2 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 18 }, { "field": "total_sites", "count": 15 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 4 }, { "field": "total_sites", "count": 3 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 14 }, { "field": "total_sites", "count": 12 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 37 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }