{ "uniprot_canonical_ac": "Q8TEA1-1", "uniprot_ac": "Q8TEA1", "uniprot_id": "NSUN6_HUMAN", "mass": { "chemical_mass": 51770.0, "monoisotopic_mass": 51770.0 }, "refseq": { "ac": "NP_872349", "name": "tRNA (cytosine(72)-C(5))-methyltransferase NSUN6 isoform 1", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_872349" }, "gene_names": [ { "name": "NSUN6", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q8TEA1", "id": "Q8TEA1" }, { "name": "4933414E04Rik; ARL5B-AS1; NOPD1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_872349", "id": "NP_872349" }, { "name": "NOPD1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q8TEA1", "id": "Q8TEA1" }, { "name": "NSUN6", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_872349", "id": "NP_872349" } ], "protein_names": [ { "name": "tRNA (cytosine(72)-C(5))-methyltransferase NSUN6", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q8TEA1" }, { "name": "2.1.1.-", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q8TEA1" }, { "name": "NOL1/NOP2/Sun and PUA domain-containing protein 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q8TEA1" }, { "name": "NOL1/NOP2/Sun domain family member 6", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q8TEA1" }, { "name": "nucleolar protein (NOL1/NOP2/sun) and PUA domains 1; NOL1/NOP2/Sun domain family, member 6; putative methyltransferase NSUN6; ARL5B antisense RNA 1; NOL1/NOP2/Sun and PUA domain-containing protein 1; NOP2/Sun RNA methyltransferase family member 6; tRNA (cytosine(72)-C(5))-methyltransferase NSUN6", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_872349", "id": "NP_872349" }, { "name": "tRNA (cytosine(72)-C(5))-methyltransferase NSUN6 isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_872349", "id": "NP_872349" } ], "function": [ { "annotation": "Findings identified NSUN6 as a novel mammalian m5C tRNA methyltransferase and suggest that methylation of tRNAs by NSUN6 occurs during a late step of tRNA biogenesis, after the addition of the CCA tail and export of the tRNA from the nucleus.", "evidence": [ { "database": "RefSeq", "id": "NP_872349", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_872349" }, { "database": "PubMed", "id": "26160102", "url": "https://glygen.org/publication/PubMed/26160102" } ] }, { "annotation": "Findings suggest that human NSun6 relies on a delicate network for RNA recognition, which involves both the primary sequence and tertiary structure of tRNA substrates.", "evidence": [ { "database": "RefSeq", "id": "NP_872349", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_872349" }, { "database": "PubMed", "id": "27703015", "url": "https://glygen.org/publication/PubMed/27703015" } ] }, { "annotation": "NSUN6, an RNA methyltransferase of 5-mC controls glioblastoma response to temozolomide (TMZ) via NELFB and RPS6KB2 interaction.", "evidence": [ { "database": "RefSeq", "id": "NP_872349", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_872349" }, { "database": "PubMed", "id": "34705606", "url": "https://glygen.org/publication/PubMed/34705606" } ] }, { "annotation": "S-adenosyl-L-methionine-dependent methyltransferase that specifically methylates the C5 position of cytosine 72 in tRNA(Thr)(TGT) and tRNA(Cys)(GCA) (PubMed:26160102, PubMed:27703015, PubMed:28531330). In vitro also methylates tRNA(Thr)(AGT) (PubMed:27703015, PubMed:26160102). Methylation requires, in the acceptor stem region, the presence of the 3'-CCA terminus, the target site C72, the discriminator base U73, and the second and third base pairs (2:71 and 3:70) in the tRNA substrates (PubMed:26160102, PubMed:27703015).", "evidence": [ { "database": "UniProtKB", "id": "Q8TEA1", "url": "https://www.uniprot.org/uniprot/Q8TEA1#function" }, { "database": "PubMed", "id": "28531330", "url": "https://glygen.org/publication/PubMed/28531330" }, { "database": "PubMed", "id": "26160102", "url": "https://glygen.org/publication/PubMed/26160102" }, { "database": "PubMed", "id": "27703015", "url": "https://glygen.org/publication/PubMed/27703015" } ] }, { "annotation": "Sequence- and structure-specific cytosine-5 mRNA methylation by NSUN6.", "evidence": [ { "database": "RefSeq", "id": "NP_872349", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_872349" }, { "database": "PubMed", "id": "33330931", "url": "https://glygen.org/publication/PubMed/33330931" } ] }, { "annotation": "The RNA methyltransferase NSUN6 suppresses pancreatic cancer development by regulating cell proliferation.", "evidence": [ { "database": "RefSeq", "id": "NP_872349", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_872349" }, { "database": "PubMed", "id": "33418496", "url": "https://glygen.org/publication/PubMed/33418496" } ] }, { "annotation": "The structures of NSun6, a human tRNA:m5C methyltransferase, in the apo form and in complex with a full-length tRNA substrate.", "evidence": [ { "database": "RefSeq", "id": "NP_872349", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_872349" }, { "database": "PubMed", "id": "28531330", "url": "https://glygen.org/publication/PubMed/28531330" } ] } ], "disease": [], "snv": [], "mutagenesis": [ { "start_pos": 126, "end_pos": 126, "sequence_org": "R", "sequence_mut": "A", "comment": "Decreases substantially tRNA methyltransferase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q8TEA1", "url": "https://www.uniprot.org/uniprot/Q8TEA1" }, { "database": "PubMed", "id": "28531330", "url": "https://glygen.org/publication/PubMed/28531330" } ] }, { "start_pos": 131, "end_pos": 131, "sequence_org": "Y", "sequence_mut": "A", "comment": "Abolishes methylation of tRNA (Cys).", "evidence": [ { "database": "UniProtKB", "id": "Q8TEA1", "url": "https://www.uniprot.org/uniprot/Q8TEA1" }, { "database": "PubMed", "id": "28531330", "url": "https://glygen.org/publication/PubMed/28531330" } ] }, { "start_pos": 159, "end_pos": 159, "sequence_org": "K", "sequence_mut": "A", "comment": "Decreases tRNA methyltransferase activiry. Abolishes tRNA methyltransferase activiry; when associated with A-181.", "evidence": [ { "database": "UniProtKB", "id": "Q8TEA1", "url": "https://www.uniprot.org/uniprot/Q8TEA1" }, { "database": "PubMed", "id": "28531330", "url": "https://glygen.org/publication/PubMed/28531330" } ] }, { "start_pos": 160, "end_pos": 160, "sequence_org": "K", "sequence_mut": "A", "comment": "Decreases tRNA methyltransferase activiry. Abolishes tRNA methyltransferase activiry; when associated with A-181.", "evidence": [ { "database": "UniProtKB", "id": "Q8TEA1", "url": "https://www.uniprot.org/uniprot/Q8TEA1" }, { "database": "PubMed", "id": "28531330", "url": "https://glygen.org/publication/PubMed/28531330" } ] }, { "start_pos": 181, "end_pos": 181, "sequence_org": "R", "sequence_mut": "A", "comment": "Decreases subtantially tRNA methyltransferase activiry.", "evidence": [ { "database": "UniProtKB", "id": "Q8TEA1", "url": "https://www.uniprot.org/uniprot/Q8TEA1" }, { "database": "PubMed", "id": "28531330", "url": "https://glygen.org/publication/PubMed/28531330" } ] }, { "start_pos": 218, "end_pos": 218, "sequence_org": "L", "sequence_mut": "A", "comment": "Decreases substantially tRNA methyltransferase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q8TEA1", "url": "https://www.uniprot.org/uniprot/Q8TEA1" }, { "database": "PubMed", "id": "28531330", "url": "https://glygen.org/publication/PubMed/28531330" } ] }, { "start_pos": 220, "end_pos": 220, "sequence_org": "N", "sequence_mut": "A", "comment": "Decreases substantially tRNA methyltransferase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q8TEA1", "url": "https://www.uniprot.org/uniprot/Q8TEA1" }, { "database": "PubMed", "id": "28531330", "url": "https://glygen.org/publication/PubMed/28531330" } ] }, { "start_pos": 223, "end_pos": 223, "sequence_org": "S", "sequence_mut": "A", "comment": "Dose not affect tRNA methyltransferase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q8TEA1", "url": "https://www.uniprot.org/uniprot/Q8TEA1" }, { "database": "PubMed", "id": "28531330", "url": "https://glygen.org/publication/PubMed/28531330" } ] }, { "start_pos": 248, "end_pos": 248, "sequence_org": "K", "sequence_mut": "A", "comment": "Abolishes tRNA methyltransferase activity. Does not affect S-Adenosylmethionine binding.", "evidence": [ { "database": "UniProtKB", "id": "Q8TEA1", "url": "https://www.uniprot.org/uniprot/Q8TEA1" }, { "database": "PubMed", "id": "28531330", "url": "https://glygen.org/publication/PubMed/28531330" } ] }, { "start_pos": 266, "end_pos": 266, "sequence_org": "D", "sequence_mut": "A", "comment": "Loss of S-Adenosylmethionine binding. Loss of tRNA methyltransferase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q8TEA1", "url": "https://www.uniprot.org/uniprot/Q8TEA1" }, { "database": "PubMed", "id": "28531330", "url": "https://glygen.org/publication/PubMed/28531330" } ] }, { "start_pos": 271, "end_pos": 271, "sequence_org": "K", "sequence_mut": "A", "comment": "Loss of S-Adenosylmethionine binding. Loss of tRNA methyltransferase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q8TEA1", "url": "https://www.uniprot.org/uniprot/Q8TEA1" }, { "database": "PubMed", "id": "28531330", "url": "https://glygen.org/publication/PubMed/28531330" } ] }, { "start_pos": 293, "end_pos": 293, "sequence_org": "D", "sequence_mut": "A", "comment": "Loss of S-Adenosylmethionine binding. Loss of tRNA methyltransferase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q8TEA1", "url": "https://www.uniprot.org/uniprot/Q8TEA1" }, { "database": "PubMed", "id": "28531330", "url": "https://glygen.org/publication/PubMed/28531330" } ] }, { "start_pos": 323, "end_pos": 323, "sequence_org": "D", "sequence_mut": "A", "comment": "Abolishes tRNA methyltransferase activity. Abolishes S-Adenosylmethionine binding.", "evidence": [ { "database": "UniProtKB", "id": "Q8TEA1", "url": "https://www.uniprot.org/uniprot/Q8TEA1" }, { "database": "PubMed", "id": "28531330", "url": "https://glygen.org/publication/PubMed/28531330" } ] }, { "start_pos": 373, "end_pos": 373, "sequence_org": "C", "sequence_mut": "A", "comment": "Does not impair target RNA binding. Abolishes tRNA (cytosine-5-)-methyltransferase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q8TEA1", "url": "https://www.uniprot.org/uniprot/Q8TEA1" }, { "database": "PubMed", "id": "28531330", "url": "https://glygen.org/publication/PubMed/28531330" }, { "database": "PubMed", "id": "26160102", "url": "https://glygen.org/publication/PubMed/26160102" } ] }, { "start_pos": 458, "end_pos": 458, "sequence_org": "F", "sequence_mut": "A", "comment": "Abolishes tRNA methyltransferase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q8TEA1", "url": "https://www.uniprot.org/uniprot/Q8TEA1" }, { "database": "PubMed", "id": "28531330", "url": "https://glygen.org/publication/PubMed/28531330" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "79.86", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000241058", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000241058" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "72.73", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000241058", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000241058" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "84.54", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000241058", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000241058" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "79.94", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000241058", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000241058" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "85.39", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000241058", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000241058" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "82.32", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000241058", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000241058" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "88.44", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000241058", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000241058" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "91.88", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000241058", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000241058" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "88.44", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000241058", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000241058" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "83.34", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000241058", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000241058" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "Q8TEA1", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q8TEA1" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": 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"MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, 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"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", 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"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": "Q8TEA1", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q8TEA1" } ], "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": "No", "trend": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "Q8TEA1", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q8TEA1" } ], "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": "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 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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": "No", "trend": "up", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "Q8TEA1", "url": 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This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "Q8TEA1", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q8TEA1" } ], "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": "No", "trend": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "Q8TEA1", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q8TEA1" } ], "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": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "Q8TEA1", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q8TEA1" } ], "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": "Q8TEA1", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q8TEA1" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "Q8TEA1", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q8TEA1" } ], "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": "No", "trend": "down", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "Q8TEA1", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q8TEA1" } ], "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": 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"Organism-specific", "Protein" ] }, { "id": "YQGAMLY", "url": "https://omabrowser.org/oma/group/YQGAMLY/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "1077100at2759", "url": "http://www.orthodb.org/?query=1077100at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR22807", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR22807", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR22807:SF34", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR22807:SF34", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "5WWQ", "url": "https://www.rcsb.org/structure/5WWQ", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5WWR", "url": "https://www.rcsb.org/structure/5WWR", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5WWS", "url": "https://www.rcsb.org/structure/5WWS", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5WWT", "url": "https://www.rcsb.org/structure/5WWT", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF01189", "url": "http://pfam.xfam.org/family/PF01189", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "Q8TEA1", "url": "https://pharos.nih.gov/targets/Q8TEA1", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_Q8TEA1", "url": "http://purl.obolibrary.org/obo/PR_Q8TEA1", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-6782315", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6782315", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_872349", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_872349", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "21124", "url": "https://www.rhea-db.org/rhea/21124", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "61584", "url": "https://www.rhea-db.org/rhea/61584", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "A0A0D9SF14", "url": "https://www.uniprot.org/uniprot/A0A0D9SF14", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0D9SF14-1", "url": "https://www.uniprot.org/uniprot/A0A0D9SF14-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q8TEA1", "url": "https://www.uniprot.org/uniprot/Q8TEA1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q8TEA1-1", "url": "https://www.uniprot.org/uniprot/Q8TEA1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "U3KQU2", "url": "https://www.uniprot.org/uniprot/U3KQU2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "U3KQU2-1", "url": "https://www.uniprot.org/uniprot/U3KQU2-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MSIFPKISLRPEVENYLKEGFMNKEIVTALGKQEAERKFETLLKHLSHPPSFTTVRVNTHLASVQHVKNLLLDELQKQFNGLSVPILQHPDLQDVLLIPVIGPRKNIKKQQCEAIVGAQCGNAVLRGAHVYAPGIVSASQFMKAGDVISVYSDIKGKCKKGAKEFDGTKVFLGNGISELSRKEIFSGLPELKGMGIRMTEPVYLSPSFDSVLPRYLFLQNLPSALVSHVLNPQPGEKILDLCAAPGGKTTHIAALMHDQGEVIALDKIFNKVEKIKQNALLLGLNSIRAFCFDGTKAVKLDMVEDTEGEPPFLPESFDRILLDAPCSGMGQRPNMACTWSVKEVASYQPLQRKLFTAAVQLLKPEGVLVYSTCTITLAENEEQVAWALTKFPCLQLQPQEPQIGGEGMRGAGLSCEQLKQLQRFDPSAVPLPDTDMDSLREARREDMLRLANKDSIGFFIAKFVKCKST", "length": 469, "header": "sp|Q8TEA1-1|NSUN6_HUMAN Isoform 1 of tRNA (cytosine(72)-C(5))-methyltransferase NSUN6 OS=Homo sapiens OX=9606 GN=NSUN6 PE=1 SV=1 CANONICAL=Q8TEA1-1" }, "isoforms": [ { "isoform_ac": "A0A0D9SF14-1", "url": "", "sequence": { "sequence": "MFHKRGKKNGKFSVRYIVLFLEIKMNQSKIDFLFV", "length": 35, "header": "tr|A0A0D9SF14-1|A0A0D9SF14_HUMAN Computationally mapped isoform of NOP2/Sun RNA methyltransferase 6 OS=Homo sapiens OX=9606 GN=NSUN6 PE=4 SV=1 CANONICAL=Q8TEA1-1" }, "locus": {} }, { "isoform_ac": "Q8TEA1-1", "url": "", "sequence": { "sequence": "MSIFPKISLRPEVENYLKEGFMNKEIVTALGKQEAERKFETLLKHLSHPPSFTTVRVNTHLASVQHVKNLLLDELQKQFNGLSVPILQHPDLQDVLLIPVIGPRKNIKKQQCEAIVGAQCGNAVLRGAHVYAPGIVSASQFMKAGDVISVYSDIKGKCKKGAKEFDGTKVFLGNGISELSRKEIFSGLPELKGMGIRMTEPVYLSPSFDSVLPRYLFLQNLPSALVSHVLNPQPGEKILDLCAAPGGKTTHIAALMHDQGEVIALDKIFNKVEKIKQNALLLGLNSIRAFCFDGTKAVKLDMVEDTEGEPPFLPESFDRILLDAPCSGMGQRPNMACTWSVKEVASYQPLQRKLFTAAVQLLKPEGVLVYSTCTITLAENEEQVAWALTKFPCLQLQPQEPQIGGEGMRGAGLSCEQLKQLQRFDPSAVPLPDTDMDSLREARREDMLRLANKDSIGFFIAKFVKCKST", "length": 469, "header": "sp|Q8TEA1-1|NSUN6_HUMAN Isoform 1 of tRNA (cytosine(72)-C(5))-methyltransferase NSUN6 OS=Homo sapiens OX=9606 GN=NSUN6 PE=1 SV=1 CANONICAL=Q8TEA1-1" }, "locus": { "chromosome": "10", "start_pos": 18651203, "end_pos": 18545936, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000377304.7", "url": "https://www.ensembl.org/id/ENST00000377304.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000366519.4", "url": "https://www.ensembl.org/id/ENSP00000366519.4" } ] } }, { "isoform_ac": "U3KQU2-1", "url": "", "sequence": { "sequence": "MFHKRGKKNGKFSIVTALGKQEAERKFETLLKHLSHPPSFTTVRVNTHLASVQHVKNLLLDELQKQFNGLSVPILQHPDLQDVLLIPVIGPRKNIKKQQCEAIVGAQCGNAVLRGAHVYAPGIVSASQFMKAGDVISVYSDIKGKCKKG", "length": 149, "header": "tr|U3KQU2-1|U3KQU2_HUMAN Computationally mapped isoform of NOP2/Sun RNA methyltransferase 6 OS=Homo sapiens OX=9606 GN=NSUN6 PE=1 SV=2 CANONICAL=Q8TEA1-1" }, "locus": { "chromosome": "10", "start_pos": 18655063, "end_pos": 18614552, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000606425.2", "url": "https://www.ensembl.org/id/ENST00000606425.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000476221.2", "url": "https://www.ensembl.org/id/ENSP00000476221.2" } ] } } ], "glycosylation": [], "phosphorylation": [ { "start_pos": 151, "end_pos": 151, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q8TEA1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEA1" }, { "database": "PubMed", "id": "18083107", "url": "https://glygen.org/publication/PubMed/18083107" }, { "database": "phospho.ELM", "id": "Q8TEA1", "url": "http://phospho.elm.eu.org/byAccession/Q8TEA1.html" } ], "site_lbl": "Tyr151" } ], "glycation": [], "keywords": [ "enzyme" ], "publication": [ { "title": "Identification and characterization of a human tRNA-specific adenosine deaminase related to the ADAR family of pre-mRNA editing enzymes.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1999", "authors": "Maas S, Gerber AP, Rich A", "evidence": [ { "database": "Reactome", "id": "R-HSA-6782315", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6782315" } ], "reference": [ { "type": "PubMed", "id": "10430867", "url": "https://glygen.org/publication/PubMed/10430867" } ] }, { "title": "The human tRNA(m(2)(2)G(26))dimethyltransferase: functional expression and characterization of a cloned hTRM1 gene.", "journal": "Nucleic acids research", "date": "2000", "authors": "Liu J, Straby KB", "evidence": [ { "database": "Reactome", "id": "R-HSA-6782315", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6782315" } ], "reference": [ { "type": "PubMed", "id": "10982862", "url": "https://glygen.org/publication/PubMed/10982862" } ] }, { "title": "Pseudouridine synthase 3 from mouse modifies the anticodon loop of tRNA.", "journal": "Biochemistry", "date": "2000", "authors": "Chen J, Patton JR", "evidence": [ { "database": "Reactome", "id": "R-HSA-6782315", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6782315" } ], "reference": [ { "type": "PubMed", "id": "11027153", "url": "https://glygen.org/publication/PubMed/11027153" } ] }, { "title": "Cloning of a human tRNA isopentenyl transferase.", "journal": "Gene", "date": "2000", "authors": "Golovko A, Hjalm G, Sitbon F, Nicander B", "evidence": [ { "database": "Reactome", "id": "R-HSA-6782315", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6782315" } ], "reference": [ { "type": "PubMed", "id": "11111046", "url": "https://glygen.org/publication/PubMed/11111046" } ] }, { "title": "Two proteins that form a complex are required for 7-methylguanosine modification of yeast tRNA.", "journal": "RNA (New York, N.Y.)", "date": "2002", "authors": "Alexandrov A, Martzen MR, Phizicky EM", "evidence": [ { "database": "Reactome", "id": "R-HSA-6782315", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6782315" } ], "reference": [ { "type": "PubMed", "id": "12403464", "url": "https://glygen.org/publication/PubMed/12403464" } ] }, { "title": "The tRNA methylase METTL1 is phosphorylated and inactivated by PKB and RSK in vitro and in cells.", "journal": "The EMBO journal", "date": "2005", "authors": "Cartlidge RA, Knebel A, Peggie M, Alexandrov A, Phizicky EM, Cohen P", "evidence": [ { "database": "Reactome", "id": "R-HSA-6782315", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6782315" } ], "reference": [ { "type": "PubMed", "id": "15861136", "url": "https://glygen.org/publication/PubMed/15861136" } ] }, { "title": "Identification and functional characterization of the candidate tumor suppressor gene TRIT1 in human lung cancer.", "journal": "Oncogene", "date": "2005", "authors": "Spinola M, Galvan A, Pignatiello C, Conti B, Pastorino U, Nicander B, Paroni R, Dragani TA", "evidence": [ { "database": "Reactome", "id": "R-HSA-6782315", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6782315" } ], "reference": [ { "type": "PubMed", "id": "15870694", "url": "https://glygen.org/publication/PubMed/15870694" } ] }, { "title": "A novel human tRNA-dihydrouridine synthase involved in pulmonary carcinogenesis.", "journal": "Cancer research", "date": "2005", "authors": "Kato T, Daigo Y, Hayama S, Ishikawa N, Yamabuki T, Ito T, Miyamoto M, Kondo S, Nakamura Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-6782315", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6782315" } ], "reference": [ { "type": "PubMed", "id": "15994936", "url": "https://glygen.org/publication/PubMed/15994936" } ] }, { "title": "The bipartite structure of the tRNA m1A58 methyltransferase from S. cerevisiae is conserved in humans.", "journal": "RNA (New York, N.Y.)", "date": "2005", "authors": "Ozanick S, Krecic A, Andersland J, Anderson JT", "evidence": [ { "database": "Reactome", "id": "R-HSA-6782315", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6782315" } ], "reference": [ { "type": "PubMed", "id": "16043508", "url": "https://glygen.org/publication/PubMed/16043508" } ] }, { "title": "Methylation of tRNAAsp by the DNA methyltransferase homolog Dnmt2.", "journal": "Science (New York, N.Y.)", "date": "2006", "authors": "Goll MG, Kirpekar F, Maggert KA, Yoder JA, Hsieh CL, Zhang X, Golic KG, Jacobsen SE, Bestor TH", "evidence": [ { "database": "Reactome", "id": "R-HSA-6782315", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6782315" } ], "reference": [ { "type": "PubMed", "id": "16424344", "url": "https://glygen.org/publication/PubMed/16424344" } ] }, { "title": "Identification of human tRNA:m5C methyltransferase catalysing intron-dependent m5C formation in the first position of the anticodon of the pre-tRNA Leu (CAA).", "journal": "Nucleic acids research", "date": "2006", "authors": "Brzezicha B, Schmidt M, Makalowska I, Jarmolowski A, Pienkowska J, Szweykowska-Kulinska Z", "evidence": [ { "database": "Reactome", "id": "R-HSA-6782315", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6782315" } ], "reference": [ { "type": "PubMed", "id": "17071714", "url": "https://glygen.org/publication/PubMed/17071714" } ] }, { "title": "Global survey of phosphotyrosine signaling identifies oncogenic kinases in lung cancer.", "journal": "Cell", "date": "2007", "authors": "Rikova K, Guo A, Zeng Q, Possemato A, Yu J, Haack H, Nardone J, Lee K, Reeves C, Li Y, Hu Y, Tan Z, Stokes M, Sullivan L, Mitchell J, Wetzel R, Macneill J, Ren JM, Yuan J, Bakalarski CE, Villen J, Kornhauser JM, Smith B, Li D, Zhou X, Gygi SP, Gu TL, Polakiewicz RD, Rush J, Comb MJ", "evidence": [ { "database": "iPTMnet", "id": "Q8TEA1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8TEA1" } ], "reference": [ { "type": "PubMed", "id": "18083107", "url": "https://glygen.org/publication/PubMed/18083107" } ] }, { "title": "Human DNMT2 methylates tRNA(Asp) molecules using a DNA methyltransferase-like catalytic mechanism.", "journal": "RNA (New York, N.Y.)", "date": "2008", "authors": "Jurkowski TP, Meusburger M, Phalke S, Helm M, Nellen W, Reuter G, Jeltsch A", "evidence": [ { "database": "Reactome", "id": "R-HSA-6782315", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6782315" } ], "reference": [ { "type": "PubMed", "id": "18567810", "url": "https://glygen.org/publication/PubMed/18567810" } ] }, { "title": "A functional proteomics approach links the ubiquitin-related modifier Urm1 to a tRNA modification pathway.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Schlieker CD, Van der Veen AG, Damon JR, Spooner E, Ploegh HL", "evidence": [ { "database": "Reactome", "id": "R-HSA-6782315", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6782315" } ], "reference": [ { "type": "PubMed", "id": "19017811", "url": "https://glygen.org/publication/PubMed/19017811" } ] }, { "title": "Queuosine formation in eukaryotic tRNA occurs via a mitochondria-localized heteromeric transglycosylase.", "journal": "The Journal of biological chemistry", "date": "2009", "authors": "Boland C, Hayes P, Santa-Maria I, Nishimura S, Kelly VP", "evidence": [ { "database": "Reactome", "id": "R-HSA-6782315", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6782315" } ], "reference": [ { "type": "PubMed", "id": "19414587", "url": "https://glygen.org/publication/PubMed/19414587" } ] }, { "title": "Lysine acetylation targets protein complexes and co-regulates major cellular functions.", "journal": "Science", "date": "2009", "authors": "Choudhary C, Kumar C, Gnad F, Nielsen ML, Rehman M, Walther TC, Olsen JV, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q8TEA1", "url": "https://www.uniprot.org/uniprot/Q8TEA1" } ], "reference": [ { "type": "PubMed", "id": "19608861", "url": "https://glygen.org/publication/PubMed/19608861" } ] }, { "title": "Mammalian ALKBH8 possesses tRNA methyltransferase activity required for the biogenesis of multiple wobble uridine modifications implicated in translational decoding.", "journal": "Molecular and cellular biology", "date": "2010", "authors": "Songe-Moller L, van den Born E, Leihne V, Vagbo CB, Kristoffersen T, Krokan HE, Kirpekar F, Falnes PO, Klungland A", "evidence": [ { "database": "Reactome", "id": "R-HSA-6782315", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6782315" } ], "reference": [ { "type": "PubMed", "id": "20123966", "url": "https://glygen.org/publication/PubMed/20123966" } ] }, { "title": "Human AlkB homolog ABH8 Is a tRNA methyltransferase required for wobble uridine modification and DNA damage survival.", "journal": "Molecular and cellular biology", "date": "2010", "authors": "Fu D, Brophy JA, Chan CT, Atmore KA, Begley U, Paules RS, Dedon PC, Begley TJ, Samson LD", "evidence": [ { "database": "Reactome", "id": "R-HSA-6782315", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6782315" } ], "reference": [ { "type": "PubMed", "id": "20308323", "url": "https://glygen.org/publication/PubMed/20308323" } ] }, { "title": "Characterization of the human tRNA-guanine transglycosylase: confirmation of the heterodimeric subunit structure.", "journal": "RNA (New York, N.Y.)", "date": "2010", "authors": "Chen YC, Kelly VP, Stachura SV, Garcia GA", "evidence": [ { "database": "Reactome", "id": "R-HSA-6782315", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6782315" } ], "reference": [ { "type": "PubMed", "id": "20354154", "url": "https://glygen.org/publication/PubMed/20354154" } ] }, { "title": "Identification of eukaryotic and prokaryotic methylthiotransferase for biosynthesis of 2-methylthio-N6-threonylcarbamoyladenosine in tRNA.", "journal": "The Journal of biological chemistry", "date": "2010", "authors": "Arragain S, Handelman SK, Forouhar F, Wei FY, Tomizawa K, Hunt JF, Douki T, Fontecave M, Mulliez E, Atta M", "evidence": [ { "database": "Reactome", "id": "R-HSA-6782315", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6782315" } ], "reference": [ { "type": "PubMed", "id": "20584901", "url": "https://glygen.org/publication/PubMed/20584901" } ] }, { "title": "tRNA(His) guanylyltransferase (THG1), a unique 3'-5' nucleotidyl transferase, shares unexpected structural homology with canonical 5'-3' DNA polymerases.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2010", "authors": "Hyde SJ, Eckenroth BE, Smith BA, Eberley WA, Heintz NH, Jackman JE, Doublie S", "evidence": [ { "database": "Reactome", "id": "R-HSA-6782315", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6782315" } ], "reference": [ { "type": "PubMed", "id": "21059936", "url": "https://glygen.org/publication/PubMed/21059936" } ] }, { "title": "Evolution of eukaryal tRNA-guanine transglycosylase: insight gained from the heterocyclic substrate recognition by the wild-type and mutant human and Escherichia coli tRNA-guanine transglycosylases.", "journal": "Nucleic acids research", "date": "2011", "authors": "Chen YC, Brooks AF, Goodenough-Lashua DM, Kittendorf JD, Showalter HD, Garcia GA", "evidence": [ { "database": "Reactome", "id": "R-HSA-6782315", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6782315" } ], "reference": [ { "type": "PubMed", "id": "21131277", "url": 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"title": "The human tRNA m (5) C methyltransferase Misu is multisite-specific.", "journal": "RNA biology", "date": "2012", "authors": "Auxilien S, Guerineau V, Szweykowska-Kulinska Z, Golinelli-Pimpaneau B", "evidence": [ { "database": "Reactome", "id": "R-HSA-6782315", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6782315" } ], "reference": [ { "type": "PubMed", "id": "22995836", "url": "https://glygen.org/publication/PubMed/22995836" } ] }, { "title": "A subcomplex of human mitochondrial RNase P is a bifunctional methyltransferase--extensive moonlighting in mitochondrial tRNA biogenesis.", "journal": "Nucleic acids research", "date": "2012", "authors": "Vilardo E, Nachbagauer C, Buzet A, Taschner A, Holzmann J, Rossmanith W", "evidence": [ { "database": "Reactome", "id": "R-HSA-6782315", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6782315" } ], "reference": [ { "type": "PubMed", "id": "23042678", "url": "https://glygen.org/publication/PubMed/23042678" } ] }, { "title": "CDK5 regulatory subunit-associated protein 1-like 1 (CDKAL1) is a tail-anchored protein in the endoplasmic reticulum (ER) of insulinoma cells.", "journal": "The Journal of biological chemistry", "date": "2012", "authors": "Brambillasca S, Altkrueger A, Colombo SF, Friederich A, Eickelmann P, Mark M, Borgese N, Solimena M", "evidence": [ { "database": "Reactome", "id": "R-HSA-6782315", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6782315" } ], "reference": [ { "type": "PubMed", "id": "23048041", "url": "https://glygen.org/publication/PubMed/23048041" } ] }, { "title": "A human tRNA methyltransferase 9-like protein prevents tumour growth by regulating LIN9 and HIF1-alpha.", "journal": "EMBO molecular medicine", "date": "2013", "authors": "Begley U, Sosa MS, Avivar-Valderas A, Patil A, Endres L, Estrada Y, Chan CT, Su D, Dedon PC, Aguirre-Ghiso JA, Begley T", "evidence": [ { "database": "Reactome", "id": "R-HSA-6782315", "url": 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TN, Pyle A, Mattijssen S, Baruffini E, Bruni F, Donnini C, Vassilev A, He L, Blakely EL, Griffin H, Santibanez-Koref M, Bindoff LA, Ferrero I, Chinnery PF, McFarland R, Maraia RJ, Taylor RW", "evidence": [ { "database": "Reactome", "id": "R-HSA-6782315", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6782315" } ], "reference": [ { "type": "PubMed", "id": "24901367", "url": "https://glygen.org/publication/PubMed/24901367" } ] }, { "title": "The cytoplasmic and nuclear populations of the eukaryote tRNA-isopentenyl transferase have distinct functions with implications in human cancer.", "journal": "Gene", "date": "2015", "authors": "Smaldino PJ, Read DF, Pratt-Hyatt M, Hopper AK, Engelke DR", "evidence": [ { "database": "Reactome", "id": "R-HSA-6782315", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6782315" } ], "reference": [ { "type": "PubMed", "id": "25261850", "url": "https://glygen.org/publication/PubMed/25261850" } ] }, { "title": "Conservation of an intricate circuit for crucial modifications of the tRNAPhe anticodon loop in eukaryotes.", "journal": "RNA (New York, N.Y.)", "date": "2015", "authors": "Guy MP, Phizicky EM", "evidence": [ { "database": "Reactome", "id": "R-HSA-6782315", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6782315" } ], "reference": [ { "type": "PubMed", "id": "25404562", "url": "https://glygen.org/publication/PubMed/25404562" } ] }, { "title": "Inosine modifications in human tRNAs are incorporated at the precursor tRNA level.", "journal": "Nucleic acids research", "date": "2015", "authors": "Torres AG, Pineyro D, Rodriguez-Escriba M, Camacho N, Reina O, Saint-Leger A, Filonava L, Batlle E, Ribas de Pouplana L", "evidence": [ { "database": "Reactome", "id": "R-HSA-6782315", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6782315" } ], "reference": [ { "type": "PubMed", "id": "25916855", "url": "https://glygen.org/publication/PubMed/25916855" } ] }, { "title": "NSUN6 is a human RNA methyltransferase that catalyzes formation of m5C72 in specific tRNAs.", "journal": "RNA", "date": "2015", "authors": "Haag S, Warda AS, Kretschmer J, Gunnigmann MA, Hobartner C, Bohnsack MT", "evidence": [ { "database": "UniProtKB", "id": "Q8TEA1", "url": "https://www.uniprot.org/uniprot/Q8TEA1" }, { "database": "Reactome", "id": "R-HSA-6782315", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6782315" }, { "database": "RefSeq", "id": "NP_872349", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_872349" } ], "reference": [ { "type": "PubMed", "id": "26160102", "url": "https://glygen.org/publication/PubMed/26160102" } ] }, { "title": "Defects in tRNA Anticodon Loop 2'-O-Methylation Are Implicated in Nonsyndromic X-Linked Intellectual Disability due to Mutations in FTSJ1.", "journal": "Human mutation", "date": "2015", "authors": "Guy MP, Shaw M, Weiner CL, Hobson L, Stark Z, Rose K, Kalscheuer VM, Gecz J, Phizicky EM", "evidence": [ { "database": "Reactome", "id": "R-HSA-6782315", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6782315" } ], "reference": [ { "type": "PubMed", "id": "26310293", "url": "https://glygen.org/publication/PubMed/26310293" } ] }, { "title": "A homozygous truncating mutation in PUS3 expands the role of tRNA modification in normal cognition.", "journal": "Human genetics", "date": "2016", "authors": "Shaheen R, Han L, Faqeih E, Ewida N, Alobeid E, Phizicky EM, Alkuraya FS", "evidence": [ { "database": "Reactome", "id": "R-HSA-6782315", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6782315" } ], "reference": [ { "type": "PubMed", "id": "27055666", "url": "https://glygen.org/publication/PubMed/27055666" } ] }, { "title": "Sequence-specific and Shape-selective RNA Recognition by the Human RNA 5-Methylcytosine Methyltransferase NSun6.", "journal": "J. 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Chem.", "date": "2016", "authors": "Long T, Li J, Li H, Zhou M, Zhou XL, Liu RJ, Wang ED", "evidence": [ { "database": "UniProtKB", "id": "Q8TEA1", "url": "https://www.uniprot.org/uniprot/Q8TEA1" }, { "database": "RefSeq", "id": "NP_872349", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_872349" } ], "reference": [ { "type": "PubMed", "id": "27703015", "url": "https://glygen.org/publication/PubMed/27703015" } ] }, { "title": "Structural basis for substrate binding and catalytic mechanism of a human RNA:m5C methyltransferase NSun6.", "journal": "Nucleic Acids Res.", "date": "2017", "authors": "Liu RJ, Long T, Li J, Li H, Wang ED", "evidence": [ { "database": "UniProtKB", "id": "Q8TEA1", "url": "https://www.uniprot.org/uniprot/Q8TEA1" }, { "database": "RefSeq", "id": "NP_872349", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_872349" } ], "reference": [ { "type": "PubMed", "id": "28531330", "url": "https://glygen.org/publication/PubMed/28531330" } ] }, { "title": "Sequence- and structure-specific cytosine-5 mRNA methylation by NSUN6.", "journal": "Nucleic acids research", "date": "2021", "authors": "Selmi T, Hussain S, Dietmann S, Heiss M, Borland K, Flad S, Carter JM, Dennison R, Huang YL, Kellner S, Bornelov S, Frye M", "evidence": [ { "database": "RefSeq", "id": "NP_872349", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_872349" } ], "reference": [ { "type": "PubMed", "id": "33330931", "url": "https://glygen.org/publication/PubMed/33330931" } ] }, { "title": "The RNA methyltransferase NSUN6 suppresses pancreatic cancer development by regulating cell proliferation.", "journal": "EBioMedicine", "date": "2021", "authors": "Yang R, Liang X, Wang H, Guo M, Shen H, Shi Y, Liu Q, Sun Y, Yang L, Zhan M", "evidence": [ { "database": "RefSeq", "id": "NP_872349", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_872349" } ], "reference": [ { "type": "PubMed", "id": "33418496", "url": "https://glygen.org/publication/PubMed/33418496" } ] }, { "title": "NSUN6, an RNA methyltransferase of 5-mC controls glioblastoma response to temozolomide (TMZ) via NELFB and RPS6KB2 interaction.", "journal": "Cancer biology & therapy", "date": "2021", "authors": "Awah CU, Winter J, Mazdoom CM, Ogunwobi OO", "evidence": [ { "database": "RefSeq", "id": "NP_872349", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_872349" } ], "reference": [ { "type": "PubMed", "id": "34705606", "url": "https://glygen.org/publication/PubMed/34705606" } ] }, { "title": "Characterization of yeast protein Deg1 as pseudouridine synthase (Pus3) catalyzing the formation of psi 38 and psi 39 in tRNA anticodon loop.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Lecointe F, Simos G, Sauer A, Hurt EC, Motorin Y, Grosjean H", "evidence": [ { "database": "Reactome", "id": "R-HSA-6782315", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6782315" } ], "reference": [ { "type": "PubMed", "id": "9430663", "url": "https://glygen.org/publication/PubMed/9430663" } ] }, { "title": "The essential Gcd10p-Gcd14p nuclear complex is required for 1-methyladenosine modification and maturation of initiator methionyl-tRNA.", "journal": "Genes & development", "date": "1998", "authors": "Anderson J, Phan L, Cuesta R, Carlson BA, Pak M, Asano K, Bjork GR, Tamame M, Hinnebusch AG", "evidence": [ { "database": "Reactome", "id": "R-HSA-6782315", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6782315" } ], "reference": [ { "type": "PubMed", "id": "9851972", "url": "https://glygen.org/publication/PubMed/9851972" } ] } ], "pathway": [ { "id": "hsa:221078", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:221078", "resource": "KEGG Pathway" }, { "id": "R-HSA-6782315", "name": "tRNA modification in the nucleus and cytosol", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6782315", "resource": "Reactome", "description": "tRNA modification in the nucleus and cytosol" } ], "orthologs": [ { "uniprot_canonical_ac": "B1WC69-1", "protein_name": "NOP2/Sun RNA methyltransferase 6", "gene_name": "Nsun6", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MYVFPKISLRPEVENYLKESFLNEEVVSASSQQEAERNFETLLLRLSHPPLFTTVRVNTHLGSVEHVRGLLLEELQKQFGGSSIPVLQHPALPDVLLIPMTGPRKNIERQQCEVIVGAQCGNAVLRGAHVYVPGVVSASKFMKAGDVVSVYSDIKGKCKKGAKEFDGTKVFLGNGISELSRKDIFNGLPDLKGIGIRMTEPIYLSPSFDNVLSGYIFLQNLPSTVVAHVLDPQPGEKILDLCAAPGGKTTHIAALMRDQGEVIALDKILTKVTKLKQNASLLGLHSIRAFCFDATKALKLEVMDGVDGAPPFLPESFDRILLDAPCSGLGQRPNMACTWTLKEVTSYQPLQRKLLNVAVRLLKPGGVLVYSTCTVTLAENEEQVAWALRTFPCLQLQPQEPQIGGEGMLGAGLSLEQLKQLQRFDPCVVPLESMDTNSLGDARREDVIWLANKDCIGFFIAKFLKCQSTERKVSRK", "length": 476 }, "evidence": [ { "id": "45229673", "url": "http://www.informatics.jax.org/homology/45229673", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q7TS68-1", "protein_name": "tRNA (cytosine(72)-C(5))-methyltransferase NSUN6", "gene_name": "Nsun6", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MYVFPKISLRPEVENYLKESFLNEEAVSASSRQEAERKFETLLLRLSHPPSMTTVRVNTHLGSVQHVRGLLLEELQKQFGESSIPVVQHPALPDVLLIPMTGPRKNIERQQGEVIVGAQCGNAVLRGAHVYVPGIVSASKFMKAGDVISVYSDINGKCKKGAKEFDGTKVFLGNGISELSRKDIFNGLPDLKGIGIRMTEPIYLSPSFDNVLPSYIFLQNLPSTVVAHVLDPQPGEKILDMCAAPGGKTTHTAALMQDKGEVIALDKILTKVNKLKQNASLLGLHSIRAFCFDATKALKLDTTDGIEGGPPFLPESFDRIILDAPCSGMGQRPNMACTWTLKEVTSYQPLQRKLLHVAVQLLKPGGVLVYSTCTITLAENEEQVAWALRTFPCLQLQPQEPQIGGEGMVGAGLTLEQLKQLQRFDPSVVPLQNMDTDSLGEARREDMIWLANKDCIGFFIAKFLKCQSTKAKVSQK", "length": 476 }, "evidence": [ { "id": "45229673", "url": "http://www.informatics.jax.org/homology/45229673", "database": "MGI" }, { "id": "Q8TEA1", "url": "https://omabrowser.org/oma/group/Q8TEA1/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 3, "go_terms": [ { "name": "tRNA (cytosine-5-)-methyltransferase activity", "id": "GO:0016428", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016428", "evidence": [ { "database": "UniProtKB", "id": "Q8TEA1", "url": "https://www.uniprot.org/uniprot/Q8TEA1" } ], "pmid": "" }, { "name": "tRNA binding", "id": "GO:0000049", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000049", "evidence": [ { "database": "UniProtKB", "id": "Q8TEA1", "url": "https://www.uniprot.org/uniprot/Q8TEA1" } ], "pmid": "" }, { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "Q8TEA1", "url": "https://www.uniprot.org/uniprot/Q8TEA1" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 4, "go_terms": [ { "name": "tRNA C5-cytosine methylation", "id": "GO:0002946", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002946", "evidence": [ { "database": "UniProtKB", "id": "Q8TEA1", "url": "https://www.uniprot.org/uniprot/Q8TEA1" } ], "pmid": "" }, { "name": "tRNA modification", "id": "GO:0006400", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006400", "evidence": [ { "database": "UniProtKB", "id": "Q8TEA1", "url": "https://www.uniprot.org/uniprot/Q8TEA1" } ], "pmid": "" }, { "name": "tRNA methylation", "id": "GO:0030488", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030488", "evidence": [ { "database": "UniProtKB", "id": "Q8TEA1", "url": "https://www.uniprot.org/uniprot/Q8TEA1" } ], "pmid": "" }, { "name": "RNA methylation", "id": "GO:0001510", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001510", "evidence": [ { "database": "UniProtKB", "id": "Q8TEA1", "url": "https://www.uniprot.org/uniprot/Q8TEA1" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 2, "go_terms": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8TEA1", "url": "https://www.uniprot.org/uniprot/Q8TEA1" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q8TEA1", "url": "https://www.uniprot.org/uniprot/Q8TEA1" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "21124", "name": "", "equation": "cytidine(72) in tRNA(Thr) + S-adenosyl-L-methionine = 5-methylcytidine(72) in tRNA(Thr) + H(+) + S-adenosyl-L-homocysteine", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q8TEA1-1", "Q7TS68-1" ], "evidence": [ { "id": "21124", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/21124" } ] }, { "id": "61584", "name": "", "equation": "cytidine(72) in tRNA(Cys) + S-adenosyl-L-methionine = 5-methylcytidine(72) in tRNA(Cys) + H(+) + S-adenosyl-L-homocysteine", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q8TEA1-1", "Q7TS68-1" ], "evidence": [ { "id": "61584", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/61584" } ] }, { "id": "R-HSA-8932765", "name": "NSUN6 methylates cytidine-72 in tRNA(Cys) and tRNA(Thr)", "equation": "", "summary": "NSUN6 methylates position 5 of the cytosine ring of cytidine-72 in the acceptor stem of tRNA(Cys) and tRNA(Thr) (Haag et al. 2015). As the reaction occurs in the cytoplasm and requires the 3' CCA on the tRNA substrates, it is believed to occur late in tRNA biogenesis", "cellular_location": "cytosol", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q8TEA1-1" ], "evidence": [ { "id": "R-HSA-8932765", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8932765" } ] } ], "reaction_participants": [], "reaction_enzymes": [ { "uniprot_ac": "Q7TS68", "gene_name": "Nsun6", "activity": [ { "ec_number": "2.1.1.-", "activity": "", "evidence": [ { "id": "Q7TS68", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q7TS68" } ] } ] }, { "uniprot_ac": "Q8TEA1", "gene_name": "NSUN6", "activity": [ { "ec_number": "2.1.1.-", "activity": "", "evidence": [ { "id": "Q8TEA1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8TEA1" } ] } ] } ], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "section_stats": [ { "table_id": "glycosylation", "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_reported", "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_reported_with_glycan", "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_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": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 45 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }