{ "uniprot_canonical_ac": "A6NJ78-1", "uniprot_ac": "A6NJ78", "uniprot_id": "MET15_HUMAN", "mass": { "chemical_mass": 46121.0, "monoisotopic_mass": 46121.0 }, "refseq": { "ac": "NP_001107000", "name": "12S rRNA N4-methylcytidine (m4C) methyltransferase isoform 1", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001107000" }, "gene_names": [ { "name": "METTL15", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/A6NJ78", "id": "A6NJ78" }, { "name": "METT5D1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001107000", "id": "NP_001107000" }, { "name": "METT5D1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A6NJ78", "id": "A6NJ78" }, { "name": "METTL15", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001107000", "id": "NP_001107000" } ], "protein_names": [ { "name": "12S rRNA N4-methylcytidine (m4C) methyltransferase", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "A6NJ78" }, { "name": "12S rRNA N4-methylcytidine (m4C) methyltransferase isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001107000", "id": "NP_001107000" }, { "name": "12S rRNA m4C methyltransferase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "A6NJ78" }, { "name": "2.1.1.-", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "A6NJ78" }, { "name": "Methyltransferase 5 domain-containing protein 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "A6NJ78" }, { "name": "Methyltransferase-like protein 15", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "A6NJ78" }, { "name": "methyltransferase 5 domain containing 1; putative S-adenosyl-L-methionine-dependent methyltransferase METT5D1; probable S-adenosyl-L-methionine-dependent methyltransferase METT5D1; probable methyltransferase-like protein 15; methyltransferase 5 domain-containing protein 1; 12S rRNA m4C methyltransferase; 12S rRNA N4-methylcytidine (m4C) methyltransferase; methyltransferase like 15", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001107000", "id": "NP_001107000" } ], "function": [ { "annotation": "Circular RNA METTL15/miR-374a-5p/ESCO2 axis induces colorectal cancer development.", "evidence": [ { "database": "RefSeq", "id": "NP_001107000", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001107000" }, { "database": "PubMed", "id": "37715994", "url": "https://glygen.org/publication/PubMed/37715994" } ] }, { "annotation": "N4-methylcytidine (m4C) methyltransferase responsible for the methylation of position C839 in mitochondrial 12S rRNA (PubMed:31665743, PubMed:32371392). Involved in the stabilization of 12S rRNA folding, therefore facilitating the assembly of the mitochondrial small ribosomal subunits (PubMed:31665743, PubMed:32371392).", "evidence": [ { "database": "UniProtKB", "id": "A6NJ78", "url": "https://www.uniprot.org/uniprot/A6NJ78#function" }, { "database": "PubMed", "id": "32371392", "url": "https://glygen.org/publication/PubMed/32371392" }, { "database": "PubMed", "id": "31665743", "url": "https://glygen.org/publication/PubMed/31665743" } ] }, { "annotation": "The human mitochondrial 12S rRNA m(4)C methyltransferase METTL15 is required for mitochondrial function.", "evidence": [ { "database": "RefSeq", "id": "NP_001107000", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001107000" }, { "database": "PubMed", "id": "32371392", "url": "https://glygen.org/publication/PubMed/32371392" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs770880037", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770880037" }, { "id": "rs770880037", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770880037" }, { "id": "rs770880037", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs770880037" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 249, "end_pos": 249, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (TRT->NRT).", "chr_id": "11", "chr_pos": "28296899", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T249", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs955759234", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs955759234" }, { "id": "rs955759234", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs955759234#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 337, "end_pos": 337, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SMT->NMT).", "chr_id": "11", "chr_pos": "28330627", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S337", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1407956893", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1407956893" }, { "id": "rs1407956893", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1407956893" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 36, "end_pos": 36, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->A).", "chr_id": "11", "chr_pos": "28113440", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T36", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs775684650", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775684650" }, { "id": "rs775684650", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775684650" }, { "id": "rs775684650", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs775684650#frequency_tab" }, { "id": "rs775684650", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775684650" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 36, "end_pos": 36, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->I).", "chr_id": "11", "chr_pos": "28113441", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T36", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [ { "start_pos": 119, "end_pos": 120, "sequence_org": "DR", "sequence_mut": "AA", "comment": "Absence of methylation of 12S rRNA position C839 and decreased methylation at position C841.", "evidence": [ { "database": "UniProtKB", "id": "A6NJ78", "url": "https://www.uniprot.org/uniprot/A6NJ78" }, { "database": "PubMed", "id": "31665743", "url": "https://glygen.org/publication/PubMed/31665743" } ] }, { "start_pos": 298, "end_pos": 298, "sequence_org": "E", "sequence_mut": "A", "comment": "Decreased methylation of 12S rRNA positions C839 and C841.", "evidence": [ { "database": "UniProtKB", "id": "A6NJ78", "url": "https://www.uniprot.org/uniprot/A6NJ78" }, { "database": "PubMed", "id": "31665743", "url": "https://glygen.org/publication/PubMed/31665743" } ] }, { "start_pos": 98, "end_pos": 101, "sequence_org": "GSGG", "sequence_mut": "ASAA", "comment": "Abolished methylation of 12S rRNA position C839.", "evidence": [ { "database": "UniProtKB", "id": "A6NJ78", "url": "https://www.uniprot.org/uniprot/A6NJ78" }, { "database": "PubMed", "id": "32371392", "url": "https://glygen.org/publication/PubMed/32371392" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "79.28", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000169519", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000169519" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "69.05", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000169519", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000169519" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "81.67", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000169519", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000169519" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "78.23", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000169519", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000169519" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "83.26", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000169519", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000169519" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "76.9", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000169519", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000169519" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "79.47", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000169519", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000169519" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "82.3", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000169519", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000169519" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "80.35", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000169519", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000169519" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "80.01", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000169519", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000169519" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "A6NJ78", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A6NJ78" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" 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"description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic 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"https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "A6NJ78", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A6NJ78" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "A6NJ78", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A6NJ78" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "A6NJ78", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A6NJ78" } ], "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. 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A6NJ78" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine 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"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": "A6NJ78", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A6NJ78" } ], "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", 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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": "A6NJ78", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A6NJ78" } ], "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/A6NJ78" } ], "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": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "A6NJ78", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A6NJ78" } ], "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": 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"http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ] }, { "significant": "No", "trend": "down", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "A6NJ78", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A6NJ78" } ], "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": 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oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal 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"Protein" ] }, { "id": "B5MC64", "url": "https://www.uniprot.org/uniprot/B5MC64", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "B5MC64-1", "url": "https://www.uniprot.org/uniprot/B5MC64-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8WD83", "url": "https://www.uniprot.org/uniprot/F8WD83", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8WD83-1", "url": "https://www.uniprot.org/uniprot/F8WD83-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MLRYPYFCRMYKECLSCWLESGIPNLGVWPNRIHTTAEKYREYEAREQTDQTQAQELHRSQDRDFETMAKLHIPVMVDEVVHCLSPQKGQIFLDMTFGSGGHTKAILQKESDIVLYALDRDPTAYALAEHLSELYPKQIRAMLGQFSQAEALLMKAGVQPGTFDGVLMDLGCSSMQLDTPERGFSLRKDGPLDMRMDGGRYPDMPTAADVVNALDQQALASILRTYGEEKHAKKIASAIVQARSIYPITRTQQLASIVAGAFPPSAIYTRKDLLQRSTHIATKTFQALRIFVNNELNELYTGLKTAQKFLRPGGRLVALSFHSLEDRIVKRFLLGISMTERFNLSVRQQVMKTSQLGSDHENTEEVSMRRAPLMWELIHKKVLSPQDQDVQDNPRGRSAKLRAAIKL", "length": 407, "header": "sp|A6NJ78-1|MET15_HUMAN Isoform 1 of 12S rRNA N4-methylcytidine (m4C) methyltransferase OS=Homo sapiens OX=9606 GN=METTL15 PE=1 SV=1 CANONICAL=A6NJ78-1" }, "isoforms": [ { "isoform_ac": "A0A0U1RR64-1", "url": "", "sequence": { "sequence": "MLRYPYFCRMYKECLSCWLESGIPNLGVWPNRIHTTAEKYREYEAREQTDQTQAQELHRSQDRDFETMAKLHIPVMVDEVVHCLSPQKGQQLLLRKSGRRPLLTASC", "length": 107, "header": "tr|A0A0U1RR64-1|MET15_HUMAN Computationally mapped isoform of 12S rRNA N4-methylcytidine (m4C) methyltransferase OS=Homo sapiens OX=9606 GN=METTL15 PE=1 SV=1 CANONICAL=A6NJ78-1" }, "locus": { "chromosome": "11", "start_pos": 28134596, "end_pos": 28113335, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000634762.1", "url": "https://www.ensembl.org/id/ENST00000634762.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000489363.1", "url": "https://www.ensembl.org/id/ENSP00000489363.1" } ] } }, { "isoform_ac": "A0A0U1RR76-1", "url": "", "sequence": { "sequence": "MLRYPYFCRMYKECLSCWLESGIPNLGVWPNRIHTTAEKYREYEAREQTDQTQAQELHRSQDRDFETMAKLHIPVMVDEVVHCLSPQKGQIFLDMTFGSGGHTKAILQKESDIVLYALDRDPTAYALAEHLSELYPKQIRAMLGQFSQAEALLMKAGVQPGTFDGVLMDLGCSSMQLDTPERGFSLRKDGPLDMRMDGGRYPDMPTAADVVNALDQQALASILRTYGEEKHAKKIASAIVQARSIYPITRTQQLASIVAGCTGESKLFWRCPKA", "length": 274, "header": "tr|A0A0U1RR76-1|MET15_HUMAN Computationally mapped isoform of 12S rRNA N4-methylcytidine (m4C) methyltransferase OS=Homo sapiens OX=9606 GN=METTL15 PE=1 SV=1 CANONICAL=A6NJ78-1" }, "locus": { "chromosome": "11", "start_pos": 28352133, "end_pos": 28113335, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000634627.1", "url": "https://www.ensembl.org/id/ENST00000634627.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000489381.1", "url": "https://www.ensembl.org/id/ENSP00000489381.1" } ] } }, { "isoform_ac": "A0A0U1RRD2-1", "url": "", "sequence": { "sequence": "MLRYPYFCRMYKECLSCWLESGIPNLGVWPNRIHTTAEKYREYEAREQTDQTQAQELHRSQDRDFETMAKLHIPVMVDEVVHCLSPQKGQNSVRLHGLFPMCSSFCTCYQNFILQQPCFCCHLKSVPNFSSCNSLPMLLLGYLILHRSF", "length": 149, "header": "tr|A0A0U1RRD2-1|MET15_HUMAN Computationally mapped isoform of 12S rRNA N4-methylcytidine (m4C) methyltransferase OS=Homo sapiens OX=9606 GN=METTL15 PE=1 SV=1 CANONICAL=A6NJ78-1" }, "locus": { "chromosome": "11", "start_pos": 28163505, "end_pos": 28113335, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000634721.1", "url": "https://www.ensembl.org/id/ENST00000634721.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000489468.1", "url": "https://www.ensembl.org/id/ENSP00000489468.1" } ] } }, { "isoform_ac": "A0A0U1RRF2-1", "url": "", "sequence": { "sequence": "MLRYPYFCRMYKECLSCWLESGIPNLGVWPNRIHTTAEKYREYEAREQTDQTQAQELHRSQDRDFETMAKLHIPVMVDEVVHCLSPQKGQ", "length": 90, "header": "tr|A0A0U1RRF2-1|MET15_HUMAN Computationally mapped isoform of 12S rRNA N4-methylcytidine (m4C) methyltransferase OS=Homo sapiens OX=9606 GN=METTL15 PE=1 SV=1 CANONICAL=A6NJ78-1" }, "locus": { "chromosome": "11", "start_pos": 28113604, "end_pos": 28113335, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000532947.2", "url": "https://www.ensembl.org/id/ENST00000532947.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000489497.1", "url": "https://www.ensembl.org/id/ENSP00000489497.1" } ] } }, { "isoform_ac": "A6NJ78-1", "url": "", "sequence": { "sequence": "MLRYPYFCRMYKECLSCWLESGIPNLGVWPNRIHTTAEKYREYEAREQTDQTQAQELHRSQDRDFETMAKLHIPVMVDEVVHCLSPQKGQIFLDMTFGSGGHTKAILQKESDIVLYALDRDPTAYALAEHLSELYPKQIRAMLGQFSQAEALLMKAGVQPGTFDGVLMDLGCSSMQLDTPERGFSLRKDGPLDMRMDGGRYPDMPTAADVVNALDQQALASILRTYGEEKHAKKIASAIVQARSIYPITRTQQLASIVAGAFPPSAIYTRKDLLQRSTHIATKTFQALRIFVNNELNELYTGLKTAQKFLRPGGRLVALSFHSLEDRIVKRFLLGISMTERFNLSVRQQVMKTSQLGSDHENTEEVSMRRAPLMWELIHKKVLSPQDQDVQDNPRGRSAKLRAAIKL", "length": 407, "header": "sp|A6NJ78-1|MET15_HUMAN Isoform 1 of 12S rRNA N4-methylcytidine (m4C) methyltransferase OS=Homo sapiens OX=9606 GN=METTL15 PE=1 SV=1 CANONICAL=A6NJ78-1" }, "locus": { "chromosome": "11", "start_pos": 28330838, "end_pos": 28113335, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000407364.8", "url": "https://www.ensembl.org/id/ENST00000407364.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000384369.3", "url": "https://www.ensembl.org/id/ENSP00000384369.3" } ] } }, { "isoform_ac": "A6NJ78-2", "url": "", "sequence": { "sequence": "MLRYPYFCRMYKECLSCWLESGIPNLGVWPNRIHTTAEKYREYEAREQTDQTQAQELHRSQDRDFETMAKLHIPVMVDEVVHCLSPQKGQIFLDMTFGSGGHTKAILQKESDIVLYALDRDPTAYALAEHLSELYPKQIRAMLGQFSQAEALLMKAGVQPGTFDGVLMDLGCSSMQLDTPERGFSLRKDGPLDMRMDGGRYPDMPTAADVVNALDQQALASILRTYGEEKHAKKIASAIVQARSIYPITRTQQLASIVAEYSETYFPVAQTLY", "length": 273, "header": "sp|A6NJ78-2|MET15_HUMAN Isoform 2 of 12S rRNA N4-methylcytidine (m4C) methyltransferase OS=Homo sapiens OX=9606 GN=METTL15 PE=1 SV=1 CANONICAL=A6NJ78-1" }, "locus": { "chromosome": "11", "start_pos": 28328135, "end_pos": 28113335, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000303459.10", "url": "https://www.ensembl.org/id/ENST00000303459.10" }, { "database": "Ensembl Peptide", "id": "ENSP00000307251.6", "url": "https://www.ensembl.org/id/ENSP00000307251.6" } ] } }, { "isoform_ac": "A6NJ78-3", "url": "", "sequence": { "sequence": "MLRYPYFCRMYKECLSCWLESGIPNLGVWPNRIHTTAEKYREYEAREQTDQTQAQELHRSQDRDFETMAKLHIPVMVDEVVHCLSPQKGQSLGVRSVGI", "length": 99, "header": "sp|A6NJ78-3|MET15_HUMAN Isoform 3 of 12S rRNA N4-methylcytidine (m4C) methyltransferase OS=Homo sapiens OX=9606 GN=METTL15 PE=1 SV=1 CANONICAL=A6NJ78-1" }, "locus": { "chromosome": "11", "start_pos": 28122168, "end_pos": 28113335, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000437814.1", "url": "https://www.ensembl.org/id/ENST00000437814.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000392806.1", "url": "https://www.ensembl.org/id/ENSP00000392806.1" } ] } }, { "isoform_ac": "A6NJ78-4", "url": "", "sequence": { "sequence": "MLRYPYFCRMYKECLSCWLESGIPNLGVWPNRIHTTAEKYREYEAREQTDQTQAQELHRSQDRDFETMAKLHIPVMVDEVVHCLSPQKGQIFLDMTFGSGGHTKAILQKESDIVLYALDRDPTAYALAEHLSELYPKQIRAMLGQFSQAEALLMKAGVQPGTFDGVLMDLGCSSMQLDTPERGFSLRKDGPLDMRMDGGRSTGTCIYPKNIRGGEACQENRFSNCSGTQHLPHHQNPAACQHRCRSISSLCYLYTERLTTAIYPYCHQDFPGSSHICEQ", "length": 279, "header": "sp|A6NJ78-4|MET15_HUMAN Isoform 4 of 12S rRNA N4-methylcytidine (m4C) methyltransferase OS=Homo sapiens OX=9606 GN=METTL15 PE=1 SV=1 CANONICAL=A6NJ78-1" }, "locus": { "chromosome": "11", "start_pos": 28330498, "end_pos": 28113335, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000406787.7", "url": "https://www.ensembl.org/id/ENST00000406787.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000385507.3", "url": "https://www.ensembl.org/id/ENSP00000385507.3" } ] } }, { "isoform_ac": "B5MC64-1", "url": "", "sequence": { "sequence": "MLRYPYFCRMYKECLSCWLESGIPNLGVWPNRIHTTAEKYREYEAREQTDQTQAQELHRSQDRDFETMAKLHIPVMVDEVVHCLSPQKGQQKK", "length": 93, "header": "tr|B5MC64-1|MET15_HUMAN Computationally mapped isoform of 12S rRNA N4-methylcytidine (m4C) methyltransferase OS=Homo sapiens OX=9606 GN=METTL15 PE=1 SV=1 CANONICAL=A6NJ78-1" }, "locus": { "chromosome": "11", "start_pos": 28123870, "end_pos": 28113335, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000403099.5", "url": "https://www.ensembl.org/id/ENST00000403099.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000385860.1", "url": "https://www.ensembl.org/id/ENSP00000385860.1" } ] } }, { "isoform_ac": "F8WD83-1", "url": "", "sequence": { "sequence": "MLRYPYFCRMYKECLSCWLESGIPNLGVWPNRIHTTAEKYREYEAREQTDQTQAQELHRSQDRDFETMAKLHIPVMVDEVVHCLSPQKGQILFMCIVLFAYPNFLVMWTRMVYLFPFTHEETEAQRNFSRYDIWFGRAHKSHSAEGVRYCSLCLGQRPNSLCIS", "length": 164, "header": "tr|F8WD83-1|MET15_HUMAN Computationally mapped isoform of 12S rRNA N4-methylcytidine (m4C) methyltransferase OS=Homo sapiens OX=9606 GN=METTL15 PE=1 SV=1 CANONICAL=A6NJ78-1" }, "locus": { "chromosome": "11", "start_pos": 28211174, "end_pos": 28113335, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000451385.6", "url": "https://www.ensembl.org/id/ENST00000451385.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000396550.1", "url": "https://www.ensembl.org/id/ENSP00000396550.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 36, "start_aa": "Thr", "end_pos": 36, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr36", "evidence": [ { "id": "A6NJ78", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=A6NJ78" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "A6NJ78", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/A6NJ78" } ] } ], "phosphorylation": [ { "start_pos": 358, "end_pos": 358, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "A6NJ78", "url": "https://www.uniprot.org/uniprot/A6NJ78" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "A6NJ78", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A6NJ78" } ], "site_lbl": "Ser358" } ], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "A6NJ78", "url": "https://www.uniprot.org/uniprot/A6NJ78" }, { "database": "iPTMnet", "id": "A6NJ78", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A6NJ78" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "Mapping and Quantification of Over 2000 O-linked Glycopeptides in Activated Human T Cells with Isotope-Targeted Glycoproteomics (Isotag).", "journal": "Molecular & cellular proteomics : MCP", "date": "2018", "authors": "Woo CM, Lund PJ, Huang AC, Davis MM, Bertozzi CR, Pitteri SJ", "evidence": [ { "database": "O-GlcNAc Database", "id": "A6NJ78", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=A6NJ78" }, { "database": "O-GlcNAc Atlas", "id": "A6NJ78", "url": "https://oglcnac.org/atlas/detail/A6NJ78" } ], "reference": [ { "type": "PubMed", "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928" } ] }, { "title": "METTL15 introduces N4-methylcytidine into human mitochondrial 12S rRNA and is required for mitoribosome biogenesis.", "journal": "Nucleic acids research", "date": "2019", "authors": "Van Haute L, Hendrick AG, D'Souza AR, Powell CA, Rebelo-Guiomar P, Harbour ME, Ding S, Fearnley IM, Andrews B, Minczuk M", "evidence": [ { "database": "UniProtKB", "id": "A6NJ78", "url": "https://www.uniprot.org/uniprot/A6NJ78" } ], "reference": [ { "type": "PubMed", "id": "31665743", "url": "https://glygen.org/publication/PubMed/31665743" } ] }, { "title": "The human mitochondrial 12S rRNA m(4)C methyltransferase METTL15 is required for mitochondrial function.", "journal": "The Journal of biological chemistry", "date": "2020", "authors": "Chen H, Shi Z, Guo J, Chang KJ, Chen Q, Yao CH, Haigis MC, Shi Y", "evidence": [ { "database": "UniProtKB", "id": "A6NJ78", "url": "https://www.uniprot.org/uniprot/A6NJ78" }, { "database": "RefSeq", "id": "NP_001107000", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001107000" } ], "reference": [ { "type": "PubMed", "id": "32371392", "url": "https://glygen.org/publication/PubMed/32371392" } ] }, { "title": "Circular RNA METTL15/miR-374a-5p/ESCO2 axis induces colorectal cancer development.", "journal": "Acta biochimica Polonica", "date": "2023-09-16", "authors": "Guo Feng, Luo Yang, Ye GuangYao, Tang WeiJun", "evidence": [ { "database": "RefSeq", "id": "NP_001107000", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001107000" } ], "reference": [ { "type": "PubMed", "id": "37715994", "url": "https://glygen.org/publication/PubMed/37715994" } ] } ], "pathway": [ { "id": "hsa:196074", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:196074", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "F7F172-1", "protein_name": "Methyltransferase like 15", "gene_name": "Mettl15", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MLRYPYFCRTYNRLFSYFVDSGAFNLDVCPHTIHTTAAMHTEYKASEGIALCDTQKVYRSEETDSEAMAKLHIPVMVDEVVQCLTPQKGQVFLDMTFGSGGHSKAILQKEPDVTVYALDRDPVAFTLAERLSEMYPTQIHAMLGQFSQAETLLMKAGVQPGTVDGVLLDLGCSSMQLDAPERGFSLRKDGPLDMRMDGDRYPDMPTAADVVNALDQQALASILRAYGEEKHAKKIASAIIQARSTYPISRTQQLASIVAGAFPPSAIYARKDLLQRSTHIATKTFQALRIFVNNELNELYTGLRTAQKFLKPGGRLVALSFHSLEDRIVKRFLLGISMTERFNLSIRQKVRQTSQMDSDHEIEERRCVRAPLKWELIHKKVLTPEDQDVQANPRGRSAKLRAAIKL", "length": 406 }, "evidence": [ { "id": "45928596", "url": "http://www.informatics.jax.org/homology/45928596", "database": "MGI" }, { "id": "A6NJ78", "url": "https://omabrowser.org/oma/group/A6NJ78/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q9DCL4-1", "protein_name": "12S rRNA N4-methylcytidine methyltransferase", "gene_name": "Mettl15", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MLRYPYFYRTYNRLFSHFVDSGASNLDVCPHTIHTAVALHTESKAVEGTALCGPQKVYSSEEKELEAMAKLHIPVMVDQVVHCLAPQKGQVFLDMTFGSGGHTRAILQKEPDVMVYALDRDPVAYAIAEQLSRLYPTQIQALLGQFSQAEALLMKAGVQPGTIDGILMDLGCSSMQLDAPERGFSLRKDGPLDMRMDGDRYPDTPTASDVVNALDQQALASILRAYGEEKHAKKIASAIIQARSTYPISRTQQLASIVAGAFPPSAVYARKDLLQRSTHIATKTFQALRIFVNNELNELYAGLRTAEKFLKTGGRLVALSFHSLEDRIVKRFLLGISMTERFNLSIRQKVKQTSQLDSDQETEERHSVRAPLKWELIHKKVLTPEDQDVQDNPRGRSAKLRAAIKL", "length": 406 }, "evidence": [ { "id": "45928596", "url": "http://www.informatics.jax.org/homology/45928596", "database": "MGI" }, { "id": "A6NJ78", "url": "https://omabrowser.org/oma/group/A6NJ78/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 3, "go_terms": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "A6NJ78", "url": "https://www.uniprot.org/uniprot/A6NJ78" } ], "pmid": "" }, { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": "UniProtKB", "id": "A6NJ78", "url": "https://www.uniprot.org/uniprot/A6NJ78" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "A6NJ78", "url": "https://www.uniprot.org/uniprot/A6NJ78" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 2, "go_terms": [ { "name": "rRNA base methylation", "id": "GO:0070475", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070475", "evidence": [ { "database": "UniProtKB", "id": "A6NJ78", "url": "https://www.uniprot.org/uniprot/A6NJ78" } ], "pmid": "" }, { "name": "methylation", "id": "GO:0032259", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032259", "evidence": [ { "database": "UniProtKB", "id": "A6NJ78", "url": "https://www.uniprot.org/uniprot/A6NJ78" } ], "pmid": "" } ] }, { "name": "Molecular 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"output_participant_list": [], "enzyme_list": [ "A6NJ78-1", "Q9DCL4-1" ], "evidence": [ { "id": "62524", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/62524" } ] } ], "reaction_participants": [], "reaction_enzymes": [ { "uniprot_ac": "A6NJ78", "gene_name": "METTL15", "activity": [ { "ec_number": "2.1.1.-", "activity": "", "evidence": [ { "id": "A6NJ78", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A6NJ78" } ] } ] }, { "uniprot_ac": "Q9DCL4", "gene_name": "Mettl15", "activity": [ { "ec_number": "2.1.1.-", "activity": "", "evidence": [ { "id": "Q9DCL4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9DCL4" } ] } ] } ], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [ 36 ], "snv_sites": [ 36, 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