{
"uniprot_canonical_ac": "O60832-1",
"uniprot_ac": "O60832",
"uniprot_id": "DKC1_HUMAN",
"mass": {
"chemical_mass": 57674.0,
"monoisotopic_mass": 57674.0
},
"refseq": {
"ac": "NP_001135935",
"name": "H/ACA ribonucleoprotein complex subunit DKC1 isoform 2",
"summary": "This gene functions in two distinct complexes. It plays an active role in telomerase stabilization and maintenance, as well as recognition of snoRNAs containing H/ACA sequences which provides stability during biogenesis and assembly into H/ACA small nucleolar RNA ribonucleoproteins (snoRNPs). This gene is highly conserved and widely expressed, and may play additional roles in nucleo-cytoplasmic shuttling, DNA damage response, and cell adhesion. Mutations have been associated with X-linked dyskeratosis congenita. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014].",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001135935"
},
"gene_names": [
{
"name": "DKC1",
"resource": "UniProtKB",
"type": "recommended",
"url": "https://www.uniprot.org/uniprot/O60832",
"id": "O60832"
},
{
"name": "CBF5; CHINE1; DKC; DKCX; NAP57; NOLA4; XAP101",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001135935",
"id": "NP_001135935"
},
{
"name": "DKC1",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001135935",
"id": "NP_001135935"
},
{
"name": "NOLA4",
"resource": "UniProtKB",
"type": "synonym",
"url": "https://www.uniprot.org/uniprot/O60832",
"id": "O60832"
},
{
"name": "hCG_18117",
"resource": "UniProtKB",
"type": "synonym",
"url": "https://www.uniprot.org/uniprot/O60832",
"id": "O60832"
}
],
"protein_names": [
{
"name": "H/ACA ribonucleoprotein complex subunit DKC1",
"resource": "UniProtKB",
"type": "recommended",
"url": "",
"id": "O60832"
},
{
"name": "5.4.99.-",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "O60832"
},
{
"name": "CBF5 homolog",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "O60832"
},
{
"name": "Dyskerin",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "O60832"
},
{
"name": "H/ACA ribonucleoprotein complex subunit 4; nucleolar protein family A member 4; snoRNP protein DKC1; nopp140-associated protein of 57 kDa; CBF5 homolog; dyskeratosis congenita 1, dyskerin; nucleolar protein NAP57; H/ACA ribonucleoprotein complex subunit DKC1",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001135935",
"id": "NP_001135935"
},
{
"name": "H/ACA ribonucleoprotein complex subunit DKC1 isoform 2",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001135935",
"id": "NP_001135935"
},
{
"name": "Nopp140-associated protein of 57 kDa",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "O60832"
},
{
"name": "Nucleolar protein NAP57",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "O60832"
},
{
"name": "Nucleolar protein family A member 4",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "O60832"
},
{
"name": "snoRNP protein DKC1",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "O60832"
}
],
"function": [
{
"annotation": "3 novel alternative splice isoforms of DKC1 derived from human X-linked dyskeratosis congenita 1 have been identified.",
"evidence": [
{
"database": "RefSeq",
"id": "NP_001135935",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001135935"
},
{
"database": "PubMed",
"id": "24219293",
"url": "https://glygen.org/publication/PubMed/24219293"
}
]
},
{
"annotation": "A pan-cancer analysis of Dyskeratosis congenita 1 (DKC1) as a prognostic biomarker. Publication Status: Online-Only",
"evidence": [
{
"database": "RefSeq",
"id": "NP_001135935",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001135935"
},
{
"database": "PubMed",
"id": "38082360",
"url": "https://glygen.org/publication/PubMed/38082360"
}
]
},
{
"annotation": "AC125611.3 promotes the progression of colon cancer by recruiting DKC1 to stabilize CTNNB1.",
"evidence": [
{
"database": "RefSeq",
"id": "NP_001135935",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001135935"
},
{
"database": "PubMed",
"id": "37684150",
"url": "https://glygen.org/publication/PubMed/37684150"
}
]
},
{
"annotation": "Catalytic subunit of H/ACA small nucleolar ribonucleoprotein (H/ACA snoRNP) complex, which catalyzes pseudouridylation of rRNA (PubMed:25219674). This involves the isomerization of uridine such that the ribose is subsequently attached to C5, instead of the normal N1 (PubMed:25219674). Each rRNA can contain up to 100 pseudouridine ('psi') residues, which may serve to stabilize the conformation of rRNAs. Required for ribosome biogenesis and telomere maintenance (PubMed:19179534, PubMed:25219674). Also required for correct processing or intranuclear trafficking of TERC, the RNA component of the telomerase reverse transcriptase (TERT) holoenzyme (PubMed:19179534).",
"evidence": [
{
"database": "UniProtKB",
"id": "O60832",
"url": "https://www.uniprot.org/uniprot/O60832#function"
},
{
"database": "PubMed",
"id": "19179534",
"url": "https://glygen.org/publication/PubMed/19179534"
},
{
"database": "PubMed",
"id": "25219674",
"url": "https://glygen.org/publication/PubMed/25219674"
}
]
},
{
"annotation": "New Insights into Dyskerin-CypA Interaction: Implications for X-Linked Dyskeratosis Congenita and Beyond. Publication Status: Online-Only",
"evidence": [
{
"database": "RefSeq",
"id": "NP_001135935",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001135935"
},
{
"database": "PubMed",
"id": "37761906",
"url": "https://glygen.org/publication/PubMed/37761906"
}
]
},
{
"annotation": "Promotes cell to cell and cell to substratum adhesion, increases the cell proliferation rate and leads to cytokeratin hyper-expression.",
"evidence": [
{
"database": "UniProtKB",
"id": "O60832",
"url": "https://www.uniprot.org/uniprot/O60832#function"
},
{
"database": "PubMed",
"id": "21820037",
"url": "https://glygen.org/publication/PubMed/21820037"
}
]
},
{
"annotation": "Suggests that DKC1 nucleolar and cytoplasmic functions might cumulatively account for the plethora of manifestations displayed by this syndrome",
"evidence": [
{
"database": "RefSeq",
"id": "NP_001135935",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001135935"
},
{
"database": "PubMed",
"id": "21820037",
"url": "https://glygen.org/publication/PubMed/21820037"
}
]
},
{
"annotation": "This gene functions in two distinct complexes. It plays an active role in telomerase stabilization and maintenance, as well as recognition of snoRNAs containing H/ACA sequences which provides stability during biogenesis and assembly into H/ACA small nucleolar RNA ribonucleoproteins (snoRNPs). This gene is highly conserved and widely expressed, and may play additional roles in nucleo-cytoplasmic shuttling, DNA damage response, and cell adhesion. Mutations have been associated with X-linked dyskeratosis congenita. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014].",
"evidence": [
{
"database": "RefSeq",
"id": "NP_001135935",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001135935"
}
]
}
],
"disease": [
{
"disease_id": "DOID:0070025",
"recommended_name": {
"id": "DOID:0070025",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0070025",
"name": "X-linked dyskeratosis congenita",
"description": "A dyskeratosis congenita that has_material_basis_in an X-linked recessive mutation of the DKC1 gene on chromosome Xq28."
},
"synonyms": [
{
"id": "DOID:0070025",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0070025",
"name": "DKCX",
"description": ""
},
{
"id": "DOID:0070025",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0070025",
"name": "Zinsser-Cole-Engman syndrome",
"description": ""
},
{
"id": "MONDO:0010584",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010584",
"name": "dyskeratosis congenita, X-linked",
"description": "X-linked form of dyskeratosis congenita."
},
{
"id": "MONDO:0010584",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010584",
"name": "DKCX",
"description": ""
},
{
"id": "MONDO:0010584",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010584",
"name": "Hoyeraal Hreidarsson syndrome",
"description": ""
},
{
"id": "MONDO:0010584",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010584",
"name": "X-linked dyskeratosis congenita",
"description": ""
},
{
"id": "MONDO:0010584",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010584",
"name": "Zinsser-Cole-Engman syndrome",
"description": ""
},
{
"id": "MONDO:0010584",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010584",
"name": "dyskeratosis congenita, X-linked",
"description": ""
},
{
"id": "MONDO:0010584",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010584",
"name": "dyskeratosis congenita, X-linked, X-linked recessive",
"description": ""
},
{
"id": "MONDO:0010584",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010584",
"name": "Growth retardation, prenatal, with progressive pancytopenia and cerebellar hypoplasia",
"description": ""
},
{
"id": "MONDO:0010584",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010584",
"name": "cerebellar hypoplasia with pancytopenia",
"description": ""
},
{
"id": "MONDO:0010584",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010584",
"name": "dyskeratosis congenita X-linked",
"description": ""
},
{
"id": "MIM:305000",
"resource": "MIM",
"url": "https://www.omim.org/entry/305000",
"name": "Dyskeratosis congenita, X-linked",
"description": "Dyskeratosis congenita, X-linked"
}
],
"evidence": [
{
"id": "305000",
"database": "MIM",
"url": "https://www.omim.org/entry/305000"
}
]
}
],
"snv": [],
"mutagenesis": [
{
"start_pos": 353,
"end_pos": 353,
"sequence_org": "A",
"sequence_mut": "R",
"comment": "Increases interaction with SHQ1.",
"evidence": [
{
"database": "UniProtKB",
"id": "O60832",
"url": "https://www.uniprot.org/uniprot/O60832"
},
{
"database": "PubMed",
"id": "19734544",
"url": "https://glygen.org/publication/PubMed/19734544"
}
]
}
],
"expression_tissue": [
{
"tissue": {
"name": "Adult mammalian kidney",
"namespace": "UBERON",
"id": "0000082",
"url": "http://purl.obolibrary.org/obo/UBERON_0000082"
},
"score": "86.04",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000130826",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000130826"
}
]
},
{
"tissue": {
"name": "Oral cavity",
"namespace": "UBERON",
"id": "0000167",
"url": "http://purl.obolibrary.org/obo/UBERON_0000167"
},
"score": "90.11",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000130826",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000130826"
}
]
},
{
"tissue": {
"name": "Stomach",
"namespace": "UBERON",
"id": "0000945",
"url": "http://purl.obolibrary.org/obo/UBERON_0000945"
},
"score": "89.07",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000130826",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000130826"
}
]
},
{
"tissue": {
"name": "Uterus",
"namespace": "UBERON",
"id": "0000995",
"url": "http://purl.obolibrary.org/obo/UBERON_0000995"
},
"score": "84.63",
"present": "MEDIUM",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000130826",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000130826"
}
]
},
{
"tissue": {
"name": "Esophagus",
"namespace": "UBERON",
"id": "0001043",
"url": "http://purl.obolibrary.org/obo/UBERON_0001043"
},
"score": "90.85",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000130826",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000130826"
}
]
},
{
"tissue": {
"name": "Rectum",
"namespace": "UBERON",
"id": "0001052",
"url": "http://purl.obolibrary.org/obo/UBERON_0001052"
},
"score": "94.27",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000130826",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000130826"
}
]
},
{
"tissue": {
"name": "Colon",
"namespace": "UBERON",
"id": "0001155",
"url": "http://purl.obolibrary.org/obo/UBERON_0001155"
},
"score": "89.94",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000130826",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000130826"
}
]
},
{
"tissue": {
"name": "Urinary bladder",
"namespace": "UBERON",
"id": "0001255",
"url": "http://purl.obolibrary.org/obo/UBERON_0001255"
},
"score": "91.22",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000130826",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000130826"
}
]
},
{
"tissue": {
"name": "Thyroid gland",
"namespace": "UBERON",
"id": "0002046",
"url": "http://purl.obolibrary.org/obo/UBERON_0002046"
},
"score": "93.47",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000130826",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000130826"
}
]
},
{
"tissue": {
"name": "Lung",
"namespace": "UBERON",
"id": "0002048",
"url": "http://purl.obolibrary.org/obo/UBERON_0002048"
},
"score": "85.22",
"present": "MEDIUM",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000130826",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000130826"
}
]
},
{
"tissue": {
"name": "Liver",
"namespace": "UBERON",
"id": "0002107",
"url": "http://purl.obolibrary.org/obo/UBERON_0002107"
},
"score": "89.31",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000130826",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000130826"
}
]
},
{
"tissue": {
"name": "Prostate gland",
"namespace": "UBERON",
"id": "0002367",
"url": "http://purl.obolibrary.org/obo/UBERON_0002367"
},
"score": "91.71",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000130826",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000130826"
}
]
},
{
"tissue": {
"name": "Thoracic mammary gland",
"namespace": "UBERON",
"id": "0005200",
"url": "http://purl.obolibrary.org/obo/UBERON_0005200"
},
"score": "92.72",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000130826",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000130826"
}
]
}
],
"expression_disease": [
{
"significant": "Yes",
"trend": "up",
"name": "Prostate cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:10283",
"evidence": [
{
"database": "BioXpress",
"id": "O60832",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60832"
}
],
"disease": [
{
"disease_id": "DOID:10283",
"recommended_name": {
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "prostate cancer",
"description": "A male reproductive organ cancer that is located_in the prostate."
},
"synonyms": [
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "NGP - new growth of prostate",
"description": ""
},
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "hereditary prostate cancer",
"description": ""
},
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "malignant tumor of the prostate",
"description": ""
},
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "prostate cancer, familial",
"description": ""
},
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "prostate neoplasm",
"description": ""
},
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "prostatic cancer",
"description": ""
},
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "prostatic neoplasm",
"description": ""
},
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "tumor of the prostate",
"description": ""
},
{
"id": "MONDO:0012597",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012597",
"name": "prostate cancer, hereditary, 9",
"description": ""
},
{
"id": "MONDO:0012597",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012597",
"name": "prostate cancer, hereditary, 9",
"description": ""
},
{
"id": "MONDO:0012597",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012597",
"name": "prostate cancer, hereditary, type 9",
"description": ""
},
{
"id": "MONDO:0012597",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012597",
"name": "HPC9",
"description": ""
},
{
"id": "MONDO:0012741",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012741",
"name": "prostate cancer, hereditary, 12",
"description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene."
},
{
"id": "MONDO:0012741",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012741",
"name": "EHBP1 familial prostate cancer",
"description": ""
},
{
"id": "MONDO:0012741",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012741",
"name": "familial prostate cancer caused by mutation in EHBP1",
"description": ""
},
{
"id": "MONDO:0012741",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012741",
"name": "prostate cancer, hereditary, 12",
"description": ""
},
{
"id": "MONDO:0012741",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012741",
"name": "prostate cancer, hereditary, type 12",
"description": ""
},
{
"id": "MONDO:0012741",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012741",
"name": "HPC12",
"description": ""
},
{
"id": "MONDO:0012244",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012244",
"name": "prostate cancer, hereditary, 5",
"description": ""
},
{
"id": "MONDO:0012244",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012244",
"name": "prostate cancer, hereditary, 5",
"description": ""
},
{
"id": "MONDO:0012244",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012244",
"name": "prostate cancer, hereditary, type 5",
"description": ""
},
{
"id": "MONDO:0012244",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012244",
"name": "HPC5",
"description": ""
},
{
"id": "MONDO:0012093",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012093",
"name": "prostate cancer, hereditary, 3",
"description": ""
},
{
"id": "MONDO:0012093",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012093",
"name": "prostate cancer, hereditary, 3",
"description": ""
},
{
"id": "MONDO:0012093",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012093",
"name": "prostate cancer, hereditary, type 3",
"description": ""
},
{
"id": "MONDO:0012093",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012093",
"name": "prostate cancer, susceptibility to, 3",
"description": ""
},
{
"id": "MONDO:0012093",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012093",
"name": "HPC3",
"description": ""
},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "prostate cancer, hereditary, 4",
"description": ""
},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "prostate cancer, hereditary, 4",
"description": ""
},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "prostate cancer, hereditary, type 4",
"description": ""
},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "prostate cancer, susceptibility to, 4",
"description": ""
},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "HPC4",
"description": ""
},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "prostate cancer, hereditary, on chromosome 7",
"description": ""
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "prostate cancer, hereditary, 13",
"description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene."
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "MSMB familial prostate cancer",
"description": ""
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "familial prostate cancer caused by mutation in MSMB",
"description": ""
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "prostate cancer, hereditary, 13",
"description": ""
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "prostate cancer, hereditary, type 13",
"description": ""
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "HPC13",
"description": ""
},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "prostate cancer, hereditary, 8",
"description": ""
},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "prostate cancer, hereditary, 8",
"description": ""
},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "prostate cancer, hereditary, type 8",
"description": ""
},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "HPC8",
"description": ""
},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "predisposing for prostate cancer",
"description": ""
},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "prostate cancer, susceptibility to",
"description": ""
},
{
"id": "MONDO:0012300",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012300",
"name": "prostate cancer, hereditary, 6",
"description": ""
},
{
"id": "MONDO:0012300",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012300",
"name": "prostate cancer, hereditary, 6",
"description": ""
},
{
"id": "MONDO:0012300",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012300",
"name": "prostate cancer, hereditary, type 6",
"description": ""
},
{
"id": "MONDO:0012300",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012300",
"name": "HPC6",
"description": ""
},
{
"id": "MONDO:0012300",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012300",
"name": "prostate cancer, susceptibility to",
"description": ""
},
{
"id": "MONDO:0012620",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012620",
"name": "prostate cancer, hereditary, 10",
"description": ""
},
{
"id": "MONDO:0012620",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012620",
"name": "HPC10",
"description": ""
},
{
"id": "MONDO:0012620",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012620",
"name": "prostate cancer, hereditary, 10",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "familial prostate carcinoma",
"description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma."
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "familial prostate cancer",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "hereditary prostate cancer",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "hereditary prostate carcinoma",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, somatic",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, familial",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, hereditary",
"description": ""
},
{
"id": "MONDO:0012470",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012470",
"name": "prostate cancer, hereditary, 7",
"description": ""
},
{
"id": "MONDO:0012470",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012470",
"name": "HPC7",
"description": ""
},
{
"id": "MONDO:0012470",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012470",
"name": "prostate cancer, hereditary, 7",
"description": ""
},
{
"id": "MONDO:0012470",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012470",
"name": "prostate cancer aggressiveness",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "prostate cancer, hereditary, 1",
"description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene."
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "RNASEL familial prostate cancer",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "familial prostate cancer caused by mutation in RNASEL",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "prostate cancer 1",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "prostate cancer, hereditary, 1",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "prostate cancer, hereditary, type 1",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "HPC1",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "Prca1",
"description": ""
},
{
"id": "MONDO:0012768",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012768",
"name": "prostate cancer, hereditary, 11",
"description": ""
},
{
"id": "MONDO:0012768",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012768",
"name": "HPC11",
"description": ""
},
{
"id": "MONDO:0012768",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012768",
"name": "prostate cancer, hereditary, 11",
"description": ""
},
{
"id": "MONDO:0012769",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012769",
"name": "prostate cancer, hereditary, 14",
"description": ""
},
{
"id": "MONDO:0012769",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012769",
"name": "HPC14",
"description": ""
},
{
"id": "MONDO:0012769",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012769",
"name": "prostate cancer, hereditary, 14",
"description": ""
},
{
"id": "MONDO:0012770",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012770",
"name": "prostate cancer, hereditary, 15",
"description": ""
},
{
"id": "MONDO:0012770",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012770",
"name": "HPC15",
"description": ""
},
{
"id": "MONDO:0012770",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012770",
"name": "prostate cancer, hereditary, 15",
"description": ""
},
{
"id": "MONDO:0010257",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010257",
"name": "prostate cancer, hereditary, X-linked 1",
"description": ""
},
{
"id": "MONDO:0010257",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010257",
"name": "HPCX1",
"description": ""
},
{
"id": "MONDO:0010257",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010257",
"name": "prostate cancer, hereditary, X-linked 1",
"description": ""
},
{
"id": "MONDO:0010257",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010257",
"name": "prostate cancer susceptibility, X-linked",
"description": ""
},
{
"id": "MONDO:0010405",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010405",
"name": "prostate cancer, hereditary, X-linked 2",
"description": ""
},
{
"id": "MONDO:0010405",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010405",
"name": "HPCX2",
"description": ""
},
{
"id": "MONDO:0010405",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010405",
"name": "prostate cancer, hereditary, X-linked 2",
"description": ""
},
{
"id": "MIM:611868",
"resource": "MIM",
"url": "https://www.omim.org/entry/611868",
"name": "Prostate cancer, hereditary, 12",
"description": "Prostate cancer, hereditary, 12"
},
{
"id": "MIM:611928",
"resource": "MIM",
"url": "https://www.omim.org/entry/611928",
"name": "Prostate cancer, hereditary, 13",
"description": "Prostate cancer, hereditary, 13"
},
{
"id": "MIM:176807",
"resource": "MIM",
"url": "https://www.omim.org/entry/176807",
"name": "Prostate cancer",
"description": "Prostate cancer"
},
{
"id": "MIM:601518",
"resource": "MIM",
"url": "https://www.omim.org/entry/601518",
"name": "Prostate cancer, hereditary, 1",
"description": "Prostate cancer, hereditary, 1"
},
{
"id": "MIM:611955",
"resource": "MIM",
"url": "https://www.omim.org/entry/611955",
"name": "Prostate cancer, hereditary, 11",
"description": "Prostate cancer, hereditary, 11"
}
]
}
]
},
{
"significant": "Yes",
"trend": "up",
"name": "Stomach cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:10534",
"evidence": [
{
"database": "BioXpress",
"id": "O60832",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60832"
}
],
"disease": [
{
"disease_id": "DOID:10534",
"recommended_name": {
"id": "DOID:10534",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10534",
"name": "stomach cancer",
"description": "A gastrointestinal system cancer that is located_in the stomach."
},
"synonyms": [
{
"id": "DOID:10534",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10534",
"name": "gastric cancer",
"description": ""
},
{
"id": "DOID:10534",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10534",
"name": "gastric neoplasm",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "gastric cancer",
"description": "A primary or metastatic malignant neoplasm involving the stomach."
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "gastric neoplasm",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "Ca lesser curvature - stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "cancer of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "gastric cancer",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "gastric cancer risk after h. pylori infection",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "gastric cancer, somatic",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant gastric neoplasm",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant gastric tumor",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant gastric tumour",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant neoplasm of lesser curve of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant neoplasm of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant neoplasm of the stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant stomach neoplasm",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumor of body of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumor of greater curve of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumor of lesser curve of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumor of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumor of the stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumour of body of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumour of greater curve of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumour of lesser curve of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumour of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumour of the stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "stomach cancer",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "Ca body - stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "ca greater curvature of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant neoplasm of body of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "gastric cancer, intestinal",
"description": ""
},
{
"id": "MIM:613659",
"resource": "MIM",
"url": "https://www.omim.org/entry/613659",
"name": "Gastric cancer",
"description": "Gastric cancer"
}
]
}
]
},
{
"significant": "Yes",
"trend": "up",
"name": "Urinary bladder cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:11054",
"evidence": [
{
"database": "BioXpress",
"id": "O60832",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60832"
}
],
"disease": [
{
"disease_id": "DOID:11054",
"recommended_name": {
"id": "DOID:11054",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11054",
"name": "urinary bladder cancer",
"description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder."
},
"synonyms": [
{
"id": "DOID:11054",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11054",
"name": "bladder cancer",
"description": ""
},
{
"id": "DOID:11054",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11054",
"name": "tumor of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "urinary bladder cancer",
"description": "A primary or metastatic malignant neoplasm involving the bladder."
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "tumor of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "tumour of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "bladder cancer, somatic",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "cancer of urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant bladder neoplasm",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant bladder tumor",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant bladder tumour",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm of bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm of the urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm of urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm, bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm, urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumor of bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumor of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumor of the urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumor of urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumor, urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumour of bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumour of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumour of the urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumour of urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant urinary bladder neoplasm",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant urinary bladder tumor",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant urinary bladder tumour",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "urinary bladder cancer",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "urinary bladder malignant neoplasm",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "urinary bladder malignant tumor",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "urinary bladder malignant tumour",
"description": ""
},
{
"id": "MIM:109800",
"resource": "MIM",
"url": "https://www.omim.org/entry/109800",
"name": "Bladder cancer",
"description": "Bladder cancer"
}
]
}
]
},
{
"significant": "Yes",
"trend": "up",
"name": "Head and neck cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:11934",
"evidence": [
{
"database": "BioXpress",
"id": "O60832",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60832"
}
],
"disease": [
{
"disease_id": "DOID:11934",
"recommended_name": {
"id": "DOID:11934",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11934",
"name": "head and neck cancer",
"description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx."
},
"synonyms": [
{
"id": "DOID:11934",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11934",
"name": "head and neck neoplasm",
"description": ""
},
{
"id": "DOID:11934",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11934",
"name": "head and neck tumours",
"description": ""
},
{
"id": "DOID:11934",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11934",
"name": "head/neck neoplasm",
"description": ""
},
{
"id": "DOID:11934",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11934",
"name": "tumor of head and neck",
"description": ""
}
]
}
]
},
{
"significant": "Yes",
"trend": "up",
"name": "Lung cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:1324",
"evidence": [
{
"database": "BioXpress",
"id": "O60832",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60832"
}
],
"disease": [
{
"disease_id": "DOID:1324",
"recommended_name": {
"id": "DOID:1324",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1324",
"name": "lung cancer",
"description": "A respiratory system cancer that is located_in the lung."
},
"synonyms": [
{
"id": "MONDO:0012159",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012159",
"name": "lung cancer susceptibility 1",
"description": ""
},
{
"id": "MONDO:0012159",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012159",
"name": "LNCR1",
"description": ""
},
{
"id": "MONDO:0012159",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012159",
"name": "lung cancer susceptibility",
"description": ""
},
{
"id": "MONDO:0012159",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012159",
"name": "lung cancer susceptibility 1",
"description": ""
},
{
"id": "MONDO:0012942",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012942",
"name": "lung cancer susceptibility 3",
"description": ""
},
{
"id": "MONDO:0012942",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012942",
"name": "LNCR3",
"description": ""
},
{
"id": "MONDO:0012942",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012942",
"name": "lung cancer susceptibility 3",
"description": ""
},
{
"id": "MONDO:0012942",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012942",
"name": "adenocarcinoma of lung, susceptibility to",
"description": ""
},
{
"id": "MONDO:0012955",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012955",
"name": "lung cancer susceptibility 4",
"description": ""
},
{
"id": "MONDO:0012955",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012955",
"name": "LNCR4",
"description": ""
},
{
"id": "MONDO:0012955",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012955",
"name": "lung cancer susceptibility 4",
"description": ""
},
{
"id": "MONDO:0013631",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0013631",
"name": "lung cancer susceptibility 5",
"description": ""
},
{
"id": "MONDO:0013631",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0013631",
"name": "LNCR5",
"description": ""
},
{
"id": "MONDO:0013631",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0013631",
"name": "lung cancer susceptibility 5",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer",
"description": "A malignant neoplasm involving the lung."
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "adenocarcinoma of lung, somatic",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "cancer of lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, protection against, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, resistance to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, somatic",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant lung neoplasm",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant lung tumor",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant lung tumour",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant neoplasm of lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant neoplasm of the lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant tumor of lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant tumor of the lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant tumour of lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant tumour of the lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "nonsmall cell lung cancer, somatic",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "Nonsmall cell lung cancer",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "alveolar cell carcinoma",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, protection against",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung neoplasm",
"description": ""
},
{
"id": "MIM:211980",
"resource": "MIM",
"url": "https://www.omim.org/entry/211980",
"name": "Lung cancer",
"description": "Lung cancer"
}
]
}
]
},
{
"significant": "Yes",
"trend": "up",
"name": "Breast cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:1612",
"evidence": [
{
"database": "BioXpress",
"id": "O60832",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60832"
}
],
"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": "No",
"trend": "down",
"name": "Thyroid cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:1781",
"evidence": [
{
"database": "BioXpress",
"id": "O60832",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60832"
}
],
"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": "O60832",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60832"
}
],
"disease": [
{
"disease_id": "DOID:263",
"recommended_name": {
"id": "DOID:263",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:263",
"name": "kidney cancer",
"description": "A urinary system cancer that is located_in the kidney."
},
"synonyms": [
{
"id": "DOID:263",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:263",
"name": "malignant neoplasm of kidney except pelvis",
"description": ""
},
{
"id": "DOID:263",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:263",
"name": "malignant tumour of kidney",
"description": ""
},
{
"id": "DOID:263",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:263",
"name": "renal cancer",
"description": ""
}
]
}
]
},
{
"significant": "Yes",
"trend": "up",
"name": "Liver cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:3571",
"evidence": [
{
"database": "BioXpress",
"id": "O60832",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60832"
}
],
"disease": [
{
"disease_id": "DOID:3571",
"recommended_name": {
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "liver cancer",
"description": "A hepatobiliary system cancer that is located_in the liver."
},
"synonyms": [
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "Ca liver - primary",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "Resectable malignant neoplasm of Liver",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "hepatic cancer",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "hepatic neoplasm",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "malignant hepato-biliary neoplasm",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "malignant neoplasm of liver",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "malignant neoplasm of liver, primary",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "malignant tumor of liver",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "neoplasm of liver",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "non-resectable primary hepatic malignant neoplasm",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "primary liver cancer",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "primary malignant neoplasm of liver",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "resectable malignant neoplasm of the liver",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "malignant neoplasm of liver, not specified as primary or secondary",
"description": ""
}
]
}
]
},
{
"significant": "Yes",
"trend": "up",
"name": "Uterine cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:363",
"evidence": [
{
"database": "BioXpress",
"id": "O60832",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60832"
}
],
"disease": [
{
"disease_id": "DOID:363",
"recommended_name": {
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "uterine cancer",
"description": "A female reproductive organ cancer that is located_in the uterus."
},
"synonyms": [
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "CA - cancer of uterus",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "Tumour of uterus",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "malignant neoplasm of uterus",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "malignant uterine tumor",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "neoplasm of uterus",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "uterine tumor",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "uterus neoplasm",
"description": ""
}
]
}
]
},
{
"significant": "Yes",
"trend": "up",
"name": "Esophageal cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:5041",
"evidence": [
{
"database": "BioXpress",
"id": "O60832",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60832"
}
],
"disease": [
{
"disease_id": "DOID:5041",
"recommended_name": {
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "esophageal cancer",
"description": "A gastrointestinal system cancer that is located_in the esophagus."
},
"synonyms": [
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "Ca lower third oesophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "Ca middle third oesophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "esophagus cancer",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant neoplasm of distal third of esophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant neoplasm of lower third of oesophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant neoplasm of middle third of oesophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant neoplasm of proximal third of esophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant neoplasm of upper third esophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant tumor of Distal Third of esophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant tumor of Proximal Third of esophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant tumor of abdominal esophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant tumor of the middle Third of the esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophageal cancer",
"description": "A primary or metastatic malignant neoplasm involving the esophagus."
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "cancer of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "cancer of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophageal cancer",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophageal cancer, somatic",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophageal carcinoma, somatic",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophageal squamous cell carcinoma, somatic",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophagus cancer",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant esophageal neoplasm",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant esophageal tumor",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant esophageal tumour",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant esophagus neoplasm",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant esophagus tumor",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of the esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of the oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant oesophagus neoplasm",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant oesophagus tumour",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumor of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumor of the esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumour of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumour of the oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "oesophagus cancer",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "Ca lower third esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "Ca lower third oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "Ca middle third esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "Ca middle third oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of distal third of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of distal third of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of lower third of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of lower third of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of middle third of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of middle third of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of proximal third of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of proximal third of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of upper third esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of upper third oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumor of abdominal esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumor of distal third of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumor of proximal third of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumor of the middle third of the esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumour of abdominal oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumour of distal third of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumour of proximal third of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumour of the middle third of the oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "Aerodigestive tract cancer, susceptibility to",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "Escc, susceptibility to",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophageal squamous cell carcinoma, susceptibility to",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "gastric cardia adenocarcinoma, susceptibility to",
"description": ""
},
{
"id": "MIM:133239",
"resource": "MIM",
"url": "https://www.omim.org/entry/133239",
"name": "Esophageal cancer",
"description": "Esophageal cancer"
}
]
}
]
},
{
"significant": "Yes",
"trend": "up",
"name": "Colorectal cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:9256",
"evidence": [
{
"database": "BioXpress",
"id": "O60832",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60832"
}
],
"disease": [
{
"disease_id": "DOID:9256",
"recommended_name": {
"id": "DOID:9256",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:9256",
"name": "colorectal cancer",
"description": "A large intestine cancer that is located_in the colon and/or located_in the rectum."
},
"synonyms": [
{
"id": "MONDO:0005575",
"resource": "MONDO",
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{
"id": "O60832-2",
"url": "https://www.uniprot.org/uniprot/O60832-2",
"database": "UniProtKB",
"categories": [
"Protein"
]
}
],
"sequence": {
"sequence": "MADAEVIILPKKHKKKKERKSLPEEDVAEIQHAEEFLIKPESKVAKLDTSQWPLLLKNFDKLNVRTTHYTPLACGSNPLKREIGDYIRTGFINLDKPSNPSSHEVVAWIRRILRVEKTGHSGTLDPKVTGCLIVCIERATRLVKSQQSAGKEYVGIVRLHNAIEGGTQLSRALETLTGALFQRPPLIAAVKRQLRVRTIYESKMIEYDPERRLGIFWVSCEAGTYIRTLCVHLGLLLGVGGQMQELRRVRSGVMSEKDHMVTMHDVLDAQWLYDNHKDESYLRRVVYPLEKLLTSHKRLVMKDSAVNAICYGAKIMLPGVLRYEDGIEVNQEIVVITTKGEAICMAIALMTTAVISTCDHGIVAKIKRVIMERDTYPRKWGLGPKASQKKLMIKQGLLDKHGKPTDSTPATWKQEYVDYSESAKKEVVAEVVKAPQVVAEAAKTAKRKRESESESDETPPAAPQLIKKEKKKSKKDKKAKAGLESGAEPGDGDSDTTKKKKKKKKAKEVELVSE",
"length": 514,
"header": "sp|O60832-1|DKC1_HUMAN Isoform 1 of H/ACA ribonucleoprotein complex subunit DKC1 OS=Homo sapiens OX=9606 GN=DKC1 PE=1 SV=3 CANONICAL=O60832-1"
},
"isoforms": [
{
"isoform_ac": "A0A8Q3SIS9-1",
"url": "",
"sequence": {
"sequence": "MADAEVIILPKKHKKKKERKSLPEEDVAEIQHAEEFLIKPESKVAKLDTSQWPLLLKNFDKLNVRTTHYTPLACGSNPLKREIGDYIRTGFINLDKPSNPSSHEVVAWIRRILRVEKTGHSGTLDPKVTGCLIVCIERATRLVKSQQSAGKEYVGIVRLHNAIEGGTQLSRALETLTGALFQRPPLIAAVKRQLRVRTIYESKMIEYDPERRLGIFWVSCEAGTYIRTLCVHLGLLLGVGGQMQELRRVRSGVMSEKDHMVTMHDVLDAQWLYDNHKDESYLRRVVYPLEKLLTSHKRLVMKDSAVNAICYGAKIMLPGVLRYEDGIEVNQEIVVITTKGEAICMAIALMTTAVISTCDHGIVAKIKRVIMERDTYPRKWGLGPKASQKKLMIKQGLLDKHGKPTDSTPATWKQEYVDYSESAKKEVVAEVVKAPQVVAEAAKTAKRKRESESESDETPPAAPQLIKKEKKKSKKDKKAKAGLESGAEPGDGVLIPPRRRRRRRKQKR",
"length": 508,
"header": "tr|A0A8Q3SIS9-1|A0A8Q3SIS9_HUMAN Computationally mapped isoform of Dyskerin pseudouridine synthase 1 OS=Homo sapiens OX=9606 GN=DKC1 PE=1 SV=1 CANONICAL=O60832-1"
},
"locus": {
"chromosome": "X",
"start_pos": 154776847,
"end_pos": 154762966,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000696628.1",
"url": "https://www.ensembl.org/id/ENST00000696628.1"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000512765.1",
"url": "https://www.ensembl.org/id/ENSP00000512765.1"
}
]
}
},
{
"isoform_ac": "A0A8Q3SIX2-1",
"url": "",
"sequence": {
"sequence": "MADAEVIILPKKHKKKKERKSLPEEDVAEIQHAEEFLIKPESKVAKLDTSQWPLLLKNFDKLNVRTTHYTPLACGSNPLKREIGDYIRTGFINLDKPSNPSSHEVVAWIRRILRVEKTGHSGTLDPKVTGCLIVCIERATRLVKSQQSAGKEYVGIVRLHNAIEGGTQLSRALETLTGALFQRPPLIAAVKRQLRVRTIYESKMIEYDPERRLGIFWVSCEAGTYIRTLCVHLGLLLGVGGQMQELRRVRSGVMSEKDHMVTMHDVLDAQWLYDNHKDESYLRRVVYPLEKLLTSHKRLVMKDSAVNAICYGAKIMLPGVLRYEDGIEVNQEIVVITTKGEAICMAIALMTTAVISTCDHGIVAKIKRVIMERDTYPRKWGLGPKVIRRS",
"length": 390,
"header": "tr|A0A8Q3SIX2-1|A0A8Q3SIX2_HUMAN Computationally mapped isoform of Dyskerin pseudouridine synthase 1 OS=Homo sapiens OX=9606 GN=DKC1 PE=1 SV=1 CANONICAL=O60832-1"
},
"locus": {
"chromosome": "X",
"start_pos": 154774617,
"end_pos": 154762966,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000696627.1",
"url": "https://www.ensembl.org/id/ENST00000696627.1"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000512764.1",
"url": "https://www.ensembl.org/id/ENSP00000512764.1"
}
]
}
},
{
"isoform_ac": "A0A8Q3SIY6-1",
"url": "",
"sequence": {
"sequence": "MADAEVIILPKKHKKKKERKSLPEEDVAEIQHAEEFLIKPESKVAKLDTSQWPLLLKNFDKLNVRTTHYTPLACGSNPLKREIGDYIRTGFINLDKPSNPSSHEVVAWIRRILRVEKTGHSGTLDPKVTGCLIVCIERATRLVKSQQSAGKEYVGIVRLHNAIEGGTQLSRALETLTGALFQRPPLIAAVKRQLRVRTIYESKMIEYDPERRLGIFWVSCEAGTYIRTLCVHLGLLLGVGGQMQELRRVRSGVMSEKDHMVTMHDVLDAQWLYDNHKDESYLRRVVYPLEKLLTSHKRLVMKDSAVNAICYGAKIMLPGVLRYEDGIEVNQEIVVITTKGEAICMAIALMTTAVISTCDHGIVAKIKRVIMERDTYPRKWGLGPKASQKKLMIKQGLLDKHGKPTDSTPATWKQDESAKKEVVAEVVKAPQVVAEAAKTAKRKRESESESDETPPAAPQLIKKEKKKSKKDKKAKAGLESGAEPGDGDSDTTKKKKKKKKAKEVELVSE",
"length": 509,
"header": "tr|A0A8Q3SIY6-1|A0A8Q3SIY6_HUMAN Computationally mapped isoform of Dyskerin pseudouridine synthase 1 OS=Homo sapiens OX=9606 GN=DKC1 PE=1 SV=1 CANONICAL=O60832-1"
},
"locus": {
"chromosome": "X",
"start_pos": 154776864,
"end_pos": 154762966,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000696575.1",
"url": "https://www.ensembl.org/id/ENST00000696575.1"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000512730.1",
"url": "https://www.ensembl.org/id/ENSP00000512730.1"
}
]
}
},
{
"isoform_ac": "A0A8Q3SJE8-1",
"url": "",
"sequence": {
"sequence": "MADAEVIILPKKHKKKKERKSLPEEDVAEIQHAEEFLIKPESKVAKLDTSQWPLLLKNFDKLNVRTTHYTPLACGSNPLKREIGDYIRTGFINLDKPSNPSSHEVVAWIRRILRVEKTGHSGTLDPKVTGCLIVCIERATRLVKSQQSAGKEYVGIVRLHNAIEGGTQLSRALETLTGALFQRPPLIAAVKRQLRVRTIYESKMIEYDPERRLGIFWVSCEAGTYIRTLCVHLGLLLGVGGQMQELRRVRSGVMSEKDHMVTMHDVLDAQWLYDNHKDESYLRRVVYPLEKLLTSHKRLVMKDSAVNAICYGAKIMLPGVLRYEDGIEVNQEIVVITTKGEAICMAIALMTTAVISTCDHGIVAKIKRVIMERDTYPRKWGLGPKASQKKLMIKQGLLDKHGKPTDSTPATWKQEYVDYSESAKKEVVAEVVKAPQVVAEAAKTAKRKRESESESDETPPAAPQLIKKEKKKSKKDKKAKAGLESGAEPGDGVCGNTFRFLGLA",
"length": 504,
"header": "tr|A0A8Q3SJE8-1|A0A8Q3SJE8_HUMAN Computationally mapped isoform of Dyskerin pseudouridine synthase 1 OS=Homo sapiens OX=9606 GN=DKC1 PE=1 SV=1 CANONICAL=O60832-1"
},
"locus": {
"chromosome": "X",
"start_pos": 154776360,
"end_pos": 154762966,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000696577.1",
"url": "https://www.ensembl.org/id/ENST00000696577.1"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000512731.1",
"url": "https://www.ensembl.org/id/ENSP00000512731.1"
}
]
}
},
{
"isoform_ac": "A0A8Q3WLC8-1",
"url": "",
"sequence": {
"sequence": "MADAEVIILPKKHKKKKERKSLPEEDVAEIQHAEEFLIKPESKVAKLDTSQWPLLLKNFDKLNVRTTHYTPLACGSNPLKREIGDYIRTGFINLDKPSNPSSHEVVAWIRRILRVEKTGHSGTLDPKVTGCLIVCIERATRLVKSQQSAGKEYVGIVRLHNAIEGGTQLSRALETLTGALFQRPPLIAAVKRQLRVRTIYESKMIEYDPERRLGIFWVSCEAGTYIRTLCVHLGLLLGVGGQMQELRRVRSGVMSEKWLYDNHKDESYLRRVVYPLEKLLTSHKRLVMKDSAVNAICYGAKIMLPGVLRYEDGIEVNQEIVVITTKGEAICMAIALMTTAVISTCDHGIVAKIKRVIMERDTYPRKWGLGPKASQKKLMIKQGLLDKHGKPTDSTPATWKQEYVDYSESAKKEVVAEVVKAPQVVAEAAKTAKRKRESESESDETPPAAPQLIKKEKKKSKKDKKAKAGLESGAEPGDGDSDTTKKKKKKKKAKEVELVSE",
"length": 501,
"header": "tr|A0A8Q3WLC8-1|A0A8Q3WLC8_HUMAN Computationally mapped isoform of Dyskerin pseudouridine synthase 1 OS=Homo sapiens OX=9606 GN=DKC1 PE=1 SV=1 CANONICAL=O60832-1"
},
"locus": {
"chromosome": "X",
"start_pos": 154776864,
"end_pos": 154762966,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000696583.1",
"url": "https://www.ensembl.org/id/ENST00000696583.1"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000512736.1",
"url": "https://www.ensembl.org/id/ENSP00000512736.1"
}
]
}
},
{
"isoform_ac": "A0A8Q3WLD1-1",
"url": "",
"sequence": {
"sequence": "MADAEVIILPKKHKKKKERKSLPEEDVANFDKLNVRTTHYTPLACGSNPLKREIGDYIRTGFINLDKPSNPSSHEVVAWIRRILRVEKTGHSGTLDPKVTGCLIVCIERATRLVKSQQSAGKEYVGIVRLHNAIEGGTQLSRALETLTGALFQRPPLIAAVKRQLRVRTIYESKMIEYDPERRLGIFWVSCEAGTYIRTLCVHLGLLLGVGGQMQELRRVRSGVMSEKDHMVTMHDVLDAQWLYDNHKDESYLRRVVYPLEKLLTSHKRLVMKDSAVNAICYGAKIMLPGVLRYEDGIEVNQEIVVITTKGEAICMAIALMTTAVISTCDHGIVAKIKRVIMERDTYPRKWGLGPKASQKKLMIKQGLLDKHGKPTDSTPATWKQEYVDYSESAKKEVVAEVVKAPQVVAEAAKTAKRKRESESESDETPPAAPQLIKKEKKKSKKDKKAKAGLESGAEPGDGDSDTTKKKKKKKKAKEVELVSE",
"length": 485,
"header": "tr|A0A8Q3WLD1-1|A0A8Q3WLD1_HUMAN Computationally mapped isoform of Dyskerin pseudouridine synthase 1 OS=Homo sapiens OX=9606 GN=DKC1 PE=1 SV=1 CANONICAL=O60832-1"
},
"locus": {
"chromosome": "X",
"start_pos": 154776864,
"end_pos": 154762966,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000696580.1",
"url": "https://www.ensembl.org/id/ENST00000696580.1"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000512733.1",
"url": "https://www.ensembl.org/id/ENSP00000512733.1"
}
]
}
},
{
"isoform_ac": "A0A8Q3WLE4-1",
"url": "",
"sequence": {
"sequence": "MADAEVIILPKKHKKKKERKSLPEEDVAEIQHAEEFLIKPESKVAKLDTSQWPLLLKNFDKLNVRTTHYTPLACGSNPLKREIGDYIRTGFINLDKPSNPSSHEVVAWIRRILRVEKTGHSGTLDPKVTGCLIVCIERATRLVKSQQSAGKEYVGIVRLHNAIEGGTQLSRALETLTGALFQRPPLIAAVKRQLRVRTIYESKMIEYDPERRLGIFWVSCEAGTYIRTLCVHLGLLLGVGGQMQELRRVRSGVMSEKDHMVTMHDVLDAQWLYDNHKDESYLRRVVYPLEKLLTSHKRLVMKDSALLH",
"length": 308,
"header": "tr|A0A8Q3WLE4-1|A0A8Q3WLE4_HUMAN Computationally mapped isoform of Dyskerin pseudouridine synthase 1 OS=Homo sapiens OX=9606 GN=DKC1 PE=1 SV=1 CANONICAL=O60832-1"
},
"locus": {
"chromosome": "X",
"start_pos": 154773139,
"end_pos": 154762966,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000696578.1",
"url": "https://www.ensembl.org/id/ENST00000696578.1"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000512732.1",
"url": "https://www.ensembl.org/id/ENSP00000512732.1"
}
]
}
},
{
"isoform_ac": "A0A8Q3WLE5-1",
"url": "",
"sequence": {
"sequence": "MADAEVIILPKKHKKKKERKSLPEEDVAVPVKRHRKPCFLFKRHTFPWQ",
"length": 49,
"header": "tr|A0A8Q3WLE5-1|A0A8Q3WLE5_HUMAN Computationally mapped isoform of Dyskerin pseudouridine synthase 1 OS=Homo sapiens OX=9606 GN=DKC1 PE=1 SV=1 CANONICAL=O60832-1"
},
"locus": {
"chromosome": "X",
"start_pos": 154765382,
"end_pos": 154762966,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000696581.1",
"url": "https://www.ensembl.org/id/ENST00000696581.1"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000512734.1",
"url": "https://www.ensembl.org/id/ENSP00000512734.1"
}
]
}
},
{
"isoform_ac": "A0A8Q3WLG7-1",
"url": "",
"sequence": {
"sequence": "MADAEVIILPKKHKKKKERKSLPEEDVAEIQHAEEFLIKPESKVAKLDTSQWPLLLKNFDKLNVRTTHYTPLACGSNPLKREIGDYIRTGFINLDKPSNPSSHEVVAWIRRILRVEKTGHSGTLDPKVTGCLIVCIERATRLVKSQQSAVKRQLRVRTIYESKMIEYDPERRLGIFWVSCEAGTYIRTLCVHLGLLLGVGGQMQELRRVRSGVMSEKDHMVTMHDVLDAQWLYDNHKDESYLRRVVYPLEKLLTSHKRLVMKDSAVNAICYGAKIMLPGVLRYEDGIEVNQEIVVITTKGEAICMAIALMTTAVISTCDHGIVAKIKRVIMERDTYPRKWGLGPKASQKKLMIKQGLLDKHGKPTDSTPATWKQEYVDYSESAKKEVVAEVVKAPQVVAEAAKTAKRKRESESESDETPPAAPQLIKKEKKKSKKDKKAKAGLESGAEPGDGDSDTTKKKKKKKKAKEVELVSE",
"length": 474,
"header": "tr|A0A8Q3WLG7-1|A0A8Q3WLG7_HUMAN Computationally mapped isoform of Dyskerin pseudouridine synthase 1 OS=Homo sapiens OX=9606 GN=DKC1 PE=1 SV=1 CANONICAL=O60832-1"
},
"locus": {
"chromosome": "X",
"start_pos": 154776864,
"end_pos": 154762966,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000696587.1",
"url": "https://www.ensembl.org/id/ENST00000696587.1"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000512737.1",
"url": "https://www.ensembl.org/id/ENSP00000512737.1"
}
]
}
},
{
"isoform_ac": "A0A8Q3WLW8-1",
"url": "",
"sequence": {
"sequence": "MADAEVIILPKKHKKKKERKSLPEEDVAEIQHAEEFLIKPESKVAKLDTSQWPLLLKNFDKLNVRTTHYTPLACGSNPLKREIGDYIRTGFINLDKPSNPSSHEVVAWIRRILRVEKTGHSGTLDPKVTGCLIVCIERATRLVKSQQSAGKEYVGIVRLHNAIEGGTQLSRALETLTGALFQRPPLIAAVKRQLRVRTIYESKMIEYDPERRLGPHGDNA",
"length": 220,
"header": "tr|A0A8Q3WLW8-1|A0A8Q3WLW8_HUMAN Computationally mapped isoform of Dyskerin pseudouridine synthase 1 OS=Homo sapiens OX=9606 GN=DKC1 PE=1 SV=1 CANONICAL=O60832-1"
},
"locus": {
"chromosome": "X",
"start_pos": 154769186,
"end_pos": 154762966,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000696582.1",
"url": "https://www.ensembl.org/id/ENST00000696582.1"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000512735.1",
"url": "https://www.ensembl.org/id/ENSP00000512735.1"
}
]
}
},
{
"isoform_ac": "A0A8V8TKY9-1",
"url": "",
"sequence": {
"sequence": "MIEYDPERRLGIFWVSCEAGTYIRTLCVHLGLLLGVGGQMQELRRVRSGVMSEKDHMVTMHDVLDAQWLYDNHKDESYLRRVVYPLEKLLTSHKRLVMKDSAVNAICYGAKIMLPGVLRYEDGIEVNQEIVVITTKGEAICMAIALMTTAVISTCDHGIVAKIKRVIMERDTYPRKWGLGPKASQKKLMIKQGLLDKHGKPTDSTPATWKQEYVDYSESAKKEVVAEVVKAPQVVAEAAKTAKRKRESESESDETPPAAPQLIKKEKKKSKKDKKAKAGLESGAEPGDGDSDTTKKKKKKKKAKEVELVSE",
"length": 311,
"header": "tr|A0A8V8TKY9-1|A0A8V8TKY9_HUMAN Computationally mapped isoform of Dyskerin pseudouridine synthase 1 OS=Homo sapiens OX=9606 GN=DKC1 PE=1 SV=1 CANONICAL=O60832-1"
},
"locus": {
"chromosome": "X",
"start_pos": 154776864,
"end_pos": 154767352,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000696588.1",
"url": "https://www.ensembl.org/id/ENST00000696588.1"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000513251.1",
"url": "https://www.ensembl.org/id/ENSP00000513251.1"
}
]
}
},
{
"isoform_ac": "C9IYT0-1",
"url": "",
"sequence": {
"sequence": "MADAEVIILPKKHKKKKERKSLPEEDVAEIQHAEEFLIKPESKVAKLDTSQWPLLLKNFDKLNVRTTHYTPLACGSNPLKREIGDYIRTGFINLDKPSNPSSHEVVAWIRRILRVEKTGHSGTLDPKVTGCLIVCIERATRLVKSQQSAGKEYVGIVRLHNAIEGGTQLSRALETLTGALFQRPPLIAAVKRQLRVRTIYESKMIEYDPERRLGIFWDHMVTMHDVLDAQWLYDNHKDESYLRRVVYPLEKLLTSHKRLVMKDSAVNAICYGAKIMLPGVLRYEDGIEVNQEIVVITTKGEAICMAIALMTTAVISTCDHGIVAKIKRVIMERDTYPRKWGLGPKASQKKLMIKQGLLDKHGKPTDSTPATWKQEYVDYR",
"length": 380,
"header": "tr|C9IYT0-1|C9IYT0_HUMAN Computationally mapped isoform of Dyskerin pseudouridine synthase 1 OS=Homo sapiens OX=9606 GN=DKC1 PE=1 SV=9 CANONICAL=O60832-1"
},
"locus": {
"chromosome": "X",
"start_pos": 154774786,
"end_pos": 154762966,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000413910.6",
"url": "https://www.ensembl.org/id/ENST00000413910.6"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000400542.2",
"url": "https://www.ensembl.org/id/ENSP00000400542.2"
}
]
}
},
{
"isoform_ac": "H7C2Q2-1",
"url": "",
"sequence": {
"sequence": "MADAEVIILPKKHKKKKERKSLPEEDVAEIQHAEEFLIKPESKVAKLDTSQWPLLLKNFDKLNVRTTHYTPLACGSNPLKREIGDYIRTGFINLDKPSNPSSHEVVAWIRRILRVEKTGHSGTLDPKVTGCLIVCIERATRLVKSQQSAGPRNSDRCLIPATPTYCCSKEAAPSEDHLREQND",
"length": 183,
"header": "tr|H7C2Q2-1|H7C2Q2_HUMAN Computationally mapped isoform of Dyskerin pseudouridine synthase 1 OS=Homo sapiens OX=9606 GN=DKC1 PE=1 SV=3 CANONICAL=O60832-1"
},
"locus": {
"chromosome": "X",
"start_pos": 154767356,
"end_pos": 154762966,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000426673.6",
"url": "https://www.ensembl.org/id/ENST00000426673.6"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000407253.3",
"url": "https://www.ensembl.org/id/ENSP00000407253.3"
}
]
}
},
{
"isoform_ac": "O60832-1",
"url": "",
"sequence": {
"sequence": "MADAEVIILPKKHKKKKERKSLPEEDVAEIQHAEEFLIKPESKVAKLDTSQWPLLLKNFDKLNVRTTHYTPLACGSNPLKREIGDYIRTGFINLDKPSNPSSHEVVAWIRRILRVEKTGHSGTLDPKVTGCLIVCIERATRLVKSQQSAGKEYVGIVRLHNAIEGGTQLSRALETLTGALFQRPPLIAAVKRQLRVRTIYESKMIEYDPERRLGIFWVSCEAGTYIRTLCVHLGLLLGVGGQMQELRRVRSGVMSEKDHMVTMHDVLDAQWLYDNHKDESYLRRVVYPLEKLLTSHKRLVMKDSAVNAICYGAKIMLPGVLRYEDGIEVNQEIVVITTKGEAICMAIALMTTAVISTCDHGIVAKIKRVIMERDTYPRKWGLGPKASQKKLMIKQGLLDKHGKPTDSTPATWKQEYVDYSESAKKEVVAEVVKAPQVVAEAAKTAKRKRESESESDETPPAAPQLIKKEKKKSKKDKKAKAGLESGAEPGDGDSDTTKKKKKKKKAKEVELVSE",
"length": 514,
"header": "sp|O60832-1|DKC1_HUMAN Isoform 1 of H/ACA ribonucleoprotein complex subunit DKC1 OS=Homo sapiens OX=9606 GN=DKC1 PE=1 SV=3 CANONICAL=O60832-1"
},
"locus": {
"chromosome": "X",
"start_pos": 154776864,
"end_pos": 154762966,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000369550.10",
"url": "https://www.ensembl.org/id/ENST00000369550.10"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000358563.5",
"url": "https://www.ensembl.org/id/ENSP00000358563.5"
}
]
}
},
{
"isoform_ac": "O60832-2",
"url": "",
"sequence": {
"sequence": "MADAEVIILPKKHKKKKERKSLPEEDVAEIQHAEEFLIKPESKVAKLDTSQWPLLLKNFDKLNVRTTHYTPLACGSNPLKREIGDYIRTGFINLDKPSNPSSHEVVAWIRRILRVEKTGHSGTLDPKVTGCLIVCIERATRLVKSQQSAGKEYVGIVRLHNAIEGGTQLSRALETLTGALFQRPPLIAAVKRQLRVRTIYESKMIEYDPERRLGIFWVSCEAGTYIRTLCVHLGLLLGVGGQMQELRRVRSGVMSEKDHMVTMHDVLDAQWLYDNHKDESYLRRVVYPLEKLLTSHKRLVMKDSAVNAICYGAKIMLPGVLRYEDGIEVNQEIVVITTKGEAICMAIALMTTAVISTCDHGIVAKIKRVIMERDTYPRKWGLGPKASQKKLMIKQGLLDKHGKPTDSTPATWKQEYVDYR",
"length": 420,
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"title": "TIN2-tethered TPP1 recruits human telomerase to telomeres in vivo.",
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"date": "2010",
"authors": "Abreu E, Aritonovska E, Reichenbach P, Cristofari G, Culp B, Terns RM, Lingner J, Terns MP",
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]
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"title": "Human Pif1 helicase is a G-quadruplex DNA-binding protein with G-quadruplex DNA-unwinding activity.",
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"date": "2010",
"authors": "Sanders CM",
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"id": "R-HSA-171319",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-171319"
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{
"type": "PubMed",
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"url": "https://glygen.org/publication/PubMed/20524933"
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]
},
{
"title": "Molecular steps of G-overhang generation at human telomeres and its function in chromosome end protection.",
"journal": "The EMBO journal",
"date": "2010",
"authors": "Dai X, Huang C, Bhusari A, Sampathi S, Schubert K, Chai W",
"evidence": [
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"database": "Reactome",
"id": "R-HSA-174430",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-174430"
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}
]
},
{
"title": "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.",
"journal": "Science signaling",
"date": "2011",
"authors": "Rigbolt KT, Prokhorova TA, Akimov V, Henningsen J, Johansen PT, Kratchmarova I, Kassem M, Mann M, Olsen JV, Blagoev B",
"evidence": [
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{
"type": "PubMed",
"id": "21406692",
"url": "https://glygen.org/publication/PubMed/21406692"
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]
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"title": "Telomere shortening and loss of self-renewal in dyskeratosis congenita induced pluripotent stem cells.",
"journal": "Nature",
"date": "2011",
"authors": "Batista LF, Pech MF, Zhong FL, Nguyen HN, Xie KT, Zaug AJ, Crary SM, Choi J, Sebastiano V, Cherry A, Giri N, Wernig M, Alter BP, Cech TR, Savage SA, Reijo Pera RA, Artandi SE",
"evidence": [
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"id": "O60832",
"url": "https://www.uniprot.org/uniprot/O60832"
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"type": "PubMed",
"id": "21602826",
"url": "https://glygen.org/publication/PubMed/21602826"
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]
},
{
"title": "A new human dyskerin isoform with cytoplasmic localization.",
"journal": "Biochimica et biophysica acta",
"date": "2011",
"authors": "Angrisani A, Turano M, Paparo L, Di Mauro C, Furia M",
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"id": "O60832",
"url": "https://www.uniprot.org/uniprot/O60832"
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"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001135935"
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"type": "PubMed",
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"url": "https://glygen.org/publication/PubMed/21820037"
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]
},
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"title": "The DEAH-box RNA helicase RHAU binds an intramolecular RNA G-quadruplex in TERC and associates with telomerase holoenzyme.",
"journal": "Nucleic Acids Res.",
"date": "2011",
"authors": "Lattmann S, Stadler MB, Vaughn JP, Akman SA, Nagamine Y",
"evidence": [
{
"database": "UniProtKB",
"id": "O60832",
"url": "https://www.uniprot.org/uniprot/O60832"
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"type": "PubMed",
"id": "21846770",
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]
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"title": "Comparative large scale characterization of plant versus mammal proteins reveals similar and idiosyncratic N-alpha-acetylation features.",
"journal": "Molecular & cellular proteomics : MCP",
"date": "2012",
"authors": "Bienvenut WV, Sumpton D, Martinez A, Lilla S, Espagne C, Meinnel T, Giglione C",
"evidence": [
{
"database": "UniProtKB",
"id": "O60832",
"url": "https://www.uniprot.org/uniprot/O60832"
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{
"type": "PubMed",
"id": "22223895",
"url": "https://glygen.org/publication/PubMed/22223895"
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]
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"title": "RTEL1 dismantles T loops and counteracts telomeric G4-DNA to maintain telomere integrity.",
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"date": "2012",
"authors": "Vannier JB, Pavicic-Kaltenbrunner V, Petalcorin MI, Ding H, Boulton SJ",
"evidence": [
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"database": "Reactome",
"id": "R-HSA-171319",
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"type": "PubMed",
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"url": "https://glygen.org/publication/PubMed/22579284"
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]
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"title": "CDK1 differentially regulates G-overhang generation at leading- and lagging-strand telomeres in telomerase-negative cells in G2 phase.",
"journal": "Cell cycle (Georgetown, Tex.)",
"date": "2012",
"authors": "Dai X, Huang C, Chai W",
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"database": "Reactome",
"id": "R-HSA-174430",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-174430"
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"type": "PubMed",
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"url": "https://glygen.org/publication/PubMed/22871736"
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]
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{
"title": "The TEL patch of telomere protein TPP1 mediates telomerase recruitment and processivity.",
"journal": "Nature",
"date": "2012",
"authors": "Nandakumar J, Bell CF, Weidenfeld I, Zaug AJ, Leinwand LA, Cech TR",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-171319",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-171319"
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"type": "PubMed",
"id": "23103865",
"url": "https://glygen.org/publication/PubMed/23103865"
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]
},
{
"title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.",
"journal": "Journal of proteome research",
"date": "2013",
"authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S",
"evidence": [
{
"database": "UniProtKB",
"id": "O60832",
"url": "https://www.uniprot.org/uniprot/O60832"
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"database": "iPTMnet",
"id": "O60832",
"url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60832"
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"type": "PubMed",
"id": "23186163",
"url": "https://glygen.org/publication/PubMed/23186163"
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]
},
{
"title": "RNA pseudouridylation: new insights into an old modification.",
"journal": "Trends in biochemical sciences",
"date": "2013",
"authors": "Ge J, Yu YT",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-6790901",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6790901"
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"type": "PubMed",
"id": "23391857",
"url": "https://glygen.org/publication/PubMed/23391857"
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]
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{
"title": "Pif1 family helicases suppress genome instability at G-quadruplex motifs.",
"journal": "Nature",
"date": "2013",
"authors": "Paeschke K, Bochman ML, Garcia PD, Cejka P, Friedman KL, Kowalczykowski SC, Zakian VA",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-171319",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-171319"
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],
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"type": "PubMed",
"id": "23657261",
"url": "https://glygen.org/publication/PubMed/23657261"
}
]
},
{
"title": "HOT1 is a mammalian direct telomere repeat-binding protein contributing to telomerase recruitment.",
"journal": "EMBO J.",
"date": "2013",
"authors": "Kappei D, Butter F, Benda C, Scheibe M, Draskovic I, Stevense M, Novo CL, Basquin C, Araki M, Araki K, Krastev DB, Kittler R, Jessberger R, Londono-Vallejo JA, Mann M, Buchholz F",
"evidence": [
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"id": "O60832",
"url": "https://www.uniprot.org/uniprot/O60832"
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"type": "PubMed",
"id": "23685356",
"url": "https://glygen.org/publication/PubMed/23685356"
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]
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"title": "The human WBSCR22 protein is involved in the biogenesis of the 40S ribosomal subunits in mammalian cells.",
"journal": "PloS one",
"date": "2013",
"authors": "Ounap K, Kasper L, Kurg A, Kurg R",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-6790901",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6790901"
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"type": "PubMed",
"id": "24086612",
"url": "https://glygen.org/publication/PubMed/24086612"
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]
},
{
"title": "Intron retention: a human DKC1 gene common splicing event.",
"journal": "Biochemistry and cell biology = Biochimie et biologie cellulaire",
"date": "2013",
"authors": "Turano M, Angrisani A, Di Maio N, Furia M",
"evidence": [
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"database": "RefSeq",
"id": "NP_001135935",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001135935"
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{
"type": "PubMed",
"id": "24219293",
"url": "https://glygen.org/publication/PubMed/24219293"
}
]
},
{
"title": "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.",
"journal": "Journal of proteomics",
"date": "2014",
"authors": "Bian Y, Song C, Cheng K, Dong M, Wang F, Huang J, Sun D, Wang L, Ye M, Zou H",
"evidence": [
{
"database": "UniProtKB",
"id": "O60832",
"url": "https://www.uniprot.org/uniprot/O60832"
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"database": "iPTMnet",
"id": "O60832",
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"type": "PubMed",
"id": "24275569",
"url": "https://glygen.org/publication/PubMed/24275569"
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]
},
{
"title": "Hoyeraal-Hreidarsson syndrome with a DKC1 mutation identified by whole-exome sequencing.",
"journal": "Gene",
"date": "2014",
"authors": "Lim BC, Yoo SK, Lee S, Shin JY, Hwang H, Chae JH, Hwang YS, Seo JS, Kim JI, Kim KJ",
"evidence": [
{
"database": "UniProtKB",
"id": "O60832",
"url": "https://www.uniprot.org/uniprot/O60832"
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],
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{
"type": "PubMed",
"id": "24914498",
"url": "https://glygen.org/publication/PubMed/24914498"
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]
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{
"title": "Mapping of SUMO sites and analysis of SUMOylation changes induced by external stimuli.",
"journal": "Proc. Natl. Acad. Sci. U.S.A.",
"date": "2014",
"authors": "Impens F, Radoshevich L, Cossart P, Ribet D",
"evidence": [
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"database": "UniProtKB",
"id": "O60832",
"url": "https://www.uniprot.org/uniprot/O60832"
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"type": "PubMed",
"id": "25114211",
"url": "https://glygen.org/publication/PubMed/25114211"
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]
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{
"title": "Genetic and molecular identification of three human TPP1 functions in telomerase action: recruitment, activation, and homeostasis set point regulation.",
"journal": "Genes & development",
"date": "2014",
"authors": "Sexton AN, Regalado SG, Lai CS, Cost GJ, O'Neil CM, Urnov FD, Gregory PD, Jaenisch R, Collins K, Hockemeyer D",
"evidence": [
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"database": "Reactome",
"id": "R-HSA-171319",
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"type": "PubMed",
"id": "25128433",
"url": "https://glygen.org/publication/PubMed/25128433"
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]
},
{
"title": "Uncovering global SUMOylation signaling networks in a site-specific manner.",
"journal": "Nat. Struct. Mol. Biol.",
"date": "2014",
"authors": "Hendriks IA, D'Souza RC, Yang B, Verlaan-de Vries M, Mann M, Vertegaal AC",
"evidence": [
{
"database": "UniProtKB",
"id": "O60832",
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]
},
{
"title": "Transcriptome-wide mapping reveals widespread dynamic-regulated pseudouridylation of ncRNA and mRNA.",
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"date": "2014",
"authors": "Schwartz S, Bernstein DA, Mumbach MR, Jovanovic M, Herbst RH, Leon-Ricardo BX, Engreitz JM, Guttman M, Satija R, Lander ES, Fink G, Regev A",
"evidence": [
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"database": "UniProtKB",
"id": "O60832",
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"type": "PubMed",
"id": "25219674",
"url": "https://glygen.org/publication/PubMed/25219674"
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]
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{
"title": "Identification of human TERT elements necessary for telomerase recruitment to telomeres.",
"journal": "eLife",
"date": "2014",
"authors": "Schmidt JC, Dalby AB, Cech TR",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-171319",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-171319"
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"type": "PubMed",
"id": "25271372",
"url": "https://glygen.org/publication/PubMed/25271372"
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]
},
{
"title": "Human NAT10 is an ATP-dependent RNA acetyltransferase responsible for N4-acetylcytidine formation in 18 S ribosomal RNA (rRNA).",
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"date": "2014",
"authors": "Ito S, Horikawa S, Suzuki T, Kawauchi H, Tanaka Y, Suzuki T, Suzuki T",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-6790901",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6790901"
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"type": "PubMed",
"id": "25411247",
"url": "https://glygen.org/publication/PubMed/25411247"
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]
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"title": "WBSCR22/Merm1 is required for late nuclear pre-ribosomal RNA processing and mediates N7-methylation of G1639 in human 18S rRNA.",
"journal": "RNA (New York, N.Y.)",
"date": "2015",
"authors": "Haag S, Kretschmer J, Bohnsack MT",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-6790901",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6790901"
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"type": "PubMed",
"id": "25525153",
"url": "https://glygen.org/publication/PubMed/25525153"
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]
},
{
"title": "TRF2 recruits RTEL1 to telomeres in S phase to promote t-loop unwinding.",
"journal": "Molecular cell",
"date": "2015",
"authors": "Sarek G, Vannier JB, Panier S, Petrini JHJ, Boulton SJ",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-171319",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-171319"
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"type": "PubMed",
"id": "25620558",
"url": "https://glygen.org/publication/PubMed/25620558"
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]
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{
"title": "Yeast Kre33 and human NAT10 are conserved 18S rRNA cytosine acetyltransferases that modify tRNAs assisted by the adaptor Tan1/THUMPD1.",
"journal": "Nucleic acids research",
"date": "2015",
"authors": "Sharma S, Langhendries JL, Watzinger P, Kotter P, Entian KD, Lafontaine DL",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-6790901",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6790901"
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"type": "PubMed",
"id": "25653167",
"url": "https://glygen.org/publication/PubMed/25653167"
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]
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{
"title": "System-wide analysis of SUMOylation dynamics in response to replication stress reveals novel small ubiquitin-like modified target proteins and acceptor lysines relevant for genome stability.",
"journal": "Mol. Cell. Proteomics",
"date": "2015",
"authors": "Xiao Zhenyu, Chang Jer-Gung, Hendriks Ivo A, Sigur\u00f0sson J\u00f3n Otti, Olsen Jesper V, Vertegaal Alfred C O",
"evidence": [
{
"database": "UniProtKB",
"id": "O60832",
"url": "https://www.uniprot.org/uniprot/O60832"
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"type": "PubMed",
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"url": "https://glygen.org/publication/PubMed/25755297"
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]
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{
"title": "SUMO-2 orchestrates chromatin modifiers in response to DNA damage.",
"journal": "Cell Rep.",
"date": "2015",
"authors": "Hendriks Ivo A, Treffers Louise W, Verlaan-de Vries Matty, Olsen Jesper V, Vertegaal Alfred C O",
"evidence": [
{
"database": "UniProtKB",
"id": "O60832",
"url": "https://www.uniprot.org/uniprot/O60832"
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"type": "PubMed",
"id": "25772364",
"url": "https://glygen.org/publication/PubMed/25772364"
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]
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"title": "The human 18S rRNA base methyltransferases DIMT1L and WBSCR22-TRMT112 but not rRNA modification are required for ribosome biogenesis.",
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"date": "2015",
"authors": "Zorbas C, Nicolas E, Wacheul L, Huvelle E, Heurgue-Hamard V, Lafontaine DL",
"evidence": [
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"id": "R-HSA-6790901",
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"type": "PubMed",
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"url": "https://glygen.org/publication/PubMed/25851604"
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]
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"title": "Modified Method of rRNA Structure Analysis Reveals Novel Characteristics of Box C/D RNA Analogues.",
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"date": "2015",
"authors": "Filippova JA, Stepanov GA, Semenov DV, Koval OA, Kuligina EV, Rabinov IV, Richter VA",
"evidence": [
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"database": "Reactome",
"id": "R-HSA-6790901",
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"type": "PubMed",
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]
},
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"title": "Eukaryotic rRNA Modification by Yeast 5-Methylcytosine-Methyltransferases and Human Proliferation-Associated Antigen p120.",
"journal": "PloS one",
"date": "2015",
"authors": "Bourgeois G, Ney M, Gaspar I, Aigueperse C, Schaefer M, Kellner S, Helm M, Motorin Y",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-6790901",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6790901"
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]
},
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"title": "Ribosome biogenesis factor Tsr3 is the aminocarboxypropyl transferase responsible for 18S rRNA hypermodification in yeast and humans.",
"journal": "Nucleic acids research",
"date": "2016",
"authors": "Meyer B, Wurm JP, Sharma S, Immer C, Pogoryelov D, Kotter P, Lafontaine DL, Wohnert J, Entian KD",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-6790901",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6790901"
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"type": "PubMed",
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"url": "https://glygen.org/publication/PubMed/27084949"
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]
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{
"title": "CTC1-mediated C-strand fill-in is an essential step in telomere length maintenance.",
"journal": "Nucleic acids research",
"date": "2017",
"authors": "Feng X, Hsu SJ, Kasbek C, Chaiken M, Price CM",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-174430",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-174430"
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"type": "PubMed",
"id": "28334750",
"url": "https://glygen.org/publication/PubMed/28334750"
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]
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"title": "Synthesis of a Highly Azide-Reactive and Thermosensitive Biofunctional Reagent for Efficient Enrichment and Large-Scale Identification of O-GlcNAc Proteins by Mass Spectrometry.",
"journal": "Analytical chemistry",
"date": "2017",
"authors": "Zhang W, Liu T, Dong H, Bai H, Tian F, Shi Z, Chen M, Wang J, Qin W, Qian X",
"evidence": [
{
"database": "O-GlcNAc Database",
"id": "O60832",
"url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60832"
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]
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"title": "Inherited SHQ1 mutations impair interaction with NAP57/dyskerin, a major target in dyskeratosis congenita.",
"journal": "Molecular genetics & genomic medicine",
"date": "2017",
"authors": "Bizarro J, Meier UT",
"evidence": [
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"database": "Reactome",
"id": "R-HSA-171319",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-171319"
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"url": "https://www.uniprot.org/uniprot/O60832"
}
],
"pmid": ""
},
{
"name": "pseudouridine synthesis",
"id": "GO:0001522",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001522",
"evidence": [
{
"database": "UniProtKB",
"id": "O60832",
"url": "https://www.uniprot.org/uniprot/O60832"
}
],
"pmid": ""
}
]
},
{
"name": "Molecular Function",
"total": 5,
"go_terms": [
{
"name": "RNA binding",
"id": "GO:0003723",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723",
"evidence": [
{
"database": "UniProtKB",
"id": "O60832",
"url": "https://www.uniprot.org/uniprot/O60832"
}
],
"pmid": ""
},
{
"name": "telomerase activity",
"id": "GO:0003720",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003720",
"evidence": [
{
"database": "UniProtKB",
"id": "O60832",
"url": "https://www.uniprot.org/uniprot/O60832"
}
],
"pmid": ""
},
{
"name": "pseudouridine synthase activity",
"id": "GO:0009982",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009982",
"evidence": [
{
"database": "UniProtKB",
"id": "O60832",
"url": "https://www.uniprot.org/uniprot/O60832"
}
],
"pmid": ""
},
{
"name": "box H/ACA snoRNA binding",
"id": "GO:0034513",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034513",
"evidence": [
{
"database": "UniProtKB",
"id": "O60832",
"url": "https://www.uniprot.org/uniprot/O60832"
}
],
"pmid": ""
},
{
"name": "telomerase RNA binding",
"id": "GO:0070034",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070034",
"evidence": [
{
"database": "UniProtKB",
"id": "O60832",
"url": "https://www.uniprot.org/uniprot/O60832"
}
],
"pmid": ""
}
]
},
{
"name": "Cellular Component",
"total": 10,
"go_terms": [
{
"name": "nucleus",
"id": "GO:0005634",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634",
"evidence": [
{
"database": "UniProtKB",
"id": "O60832",
"url": "https://www.uniprot.org/uniprot/O60832"
}
],
"pmid": ""
},
{
"name": "nucleoplasm",
"id": "GO:0005654",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654",
"evidence": [
{
"database": "UniProtKB",
"id": "O60832",
"url": "https://www.uniprot.org/uniprot/O60832"
}
],
"pmid": ""
},
{
"name": "nucleolus",
"id": "GO:0005730",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730",
"evidence": [
{
"database": "UniProtKB",
"id": "O60832",
"url": "https://www.uniprot.org/uniprot/O60832"
}
],
"pmid": ""
},
{
"name": "cytoplasm",
"id": "GO:0005737",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737",
"evidence": [
{
"database": "UniProtKB",
"id": "O60832",
"url": "https://www.uniprot.org/uniprot/O60832"
}
],
"pmid": ""
},
{
"name": "fibrillar center",
"id": "GO:0001650",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001650",
"evidence": [
{
"database": "UniProtKB",
"id": "O60832",
"url": "https://www.uniprot.org/uniprot/O60832"
}
],
"pmid": ""
},
{
"name": "telomerase holoenzyme complex",
"id": "GO:0005697",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005697",
"evidence": [
{
"database": "UniProtKB",
"id": "O60832",
"url": "https://www.uniprot.org/uniprot/O60832"
}
],
"pmid": ""
},
{
"name": "box H/ACA snoRNP complex",
"id": "GO:0031429",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031429",
"evidence": [
{
"database": "UniProtKB",
"id": "O60832",
"url": "https://www.uniprot.org/uniprot/O60832"
}
],
"pmid": ""
},
{
"name": "box H/ACA scaRNP complex",
"id": "GO:0072589",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072589",
"evidence": [
{
"database": "UniProtKB",
"id": "O60832",
"url": "https://www.uniprot.org/uniprot/O60832"
}
],
"pmid": ""
},
{
"name": "box H/ACA telomerase RNP complex",
"id": "GO:0090661",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090661",
"evidence": [
{
"database": "UniProtKB",
"id": "O60832",
"url": "https://www.uniprot.org/uniprot/O60832"
}
],
"pmid": ""
},
{
"name": "ribonucleoprotein complex",
"id": "GO:1990904",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990904",
"evidence": [
{
"database": "UniProtKB",
"id": "O60832",
"url": "https://www.uniprot.org/uniprot/O60832"
}
],
"pmid": ""
}
]
}
]
},
"pro_annotation": [],
"site_annotation": [],
"ptm_annotation": [],
"interactions": [],
"reactions": [
{
"id": "47036",
"name": "",
"equation": "uridine in 5S rRNA = pseudouridine in 5S rRNA",
"summary": "",
"cellular_location": "",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"Q4QQT0-1",
"P40615-1",
"O60832-1",
"Q96CM3-1",
"Q9ESX5-1",
"Q9CWX4-1",
"P33322-1",
"Q08647-1"
],
"evidence": [
{
"id": "47036",
"database": "Rhea",
"url": "https://www.rhea-db.org/rhea/47036"
}
]
},
{
"id": "R-HSA-163090",
"name": "Elongation Of The Telomeric Chromosome End",
"equation": "",
"summary": "The template of hTERC directs the sequential addition of nucleotides to the 3' telomeric DNA end. Following addition of a nucleotide, the template and catalytic site must move relative to one another within the telomerase RNP to place the appropriate template residue in the active site. As base-pairing and nucleotide addition occur at one end of the template, base pair melting occurs at the other (Collins and Greider 1993; Wang and Blackburn, 1997; Hammond and Cech 1998; Benjamin et al. 2000; Forstemann and Lingner 2005). This un-pairing is thought to reduce the energy used for mediating the subsequent translocation step. Nucleotide addition can occur up until the template boundary which in hTERC is defined by a helix called P1b (Chen and Greider 2003).
",
"cellular_location": "nucleoplasm",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"Q9NZ71-1",
"O60832-1",
"O14746-1"
],
"evidence": [
{
"id": "R-HSA-163090",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-163090"
}
]
},
{
"id": "R-HSA-163096",
"name": "Recruitment of Telomerase RNP to the Telomeric Chromosome End",
"equation": "",
"summary": "Studies in yeast and human cells indicate that recruitment of telomerase to a telomere may be influenced by multiple variables, including regulatory protein factors, hTERT domains, telomere length, and the cell cycle stage. First, in yeast, the telomerase associated factor Est1 and the single-strand DNA binding protein Cdc13 play roles in telomerase recruitment (Pennock et al. 2001; Bianchi et al. 2004). Analogous proteins exist in human cells (Est1A, Est1B, Est1C, and POT1, respectively); however, how or whether these proteins are directly involved in telomerase recruitment remains to be elucidated. Second, N-terminal residues of hTERT within the DAT (dissociate the activities of telomerase) domain may have a role in binding single stranded telomeric DNA as the \\anchor site\\ (Lee et al. 1993; Moriarty et al. 2005). Third, a cis-acting mechanism in yeast and humans that regulates telomere length maintenance may modulate telomerase access to the telomere (reviewed in Blackburn 2001; Smogorzewska and de Lange, 2004). Long telomeres, which have more associated protein factors, are in a state that is acted on by telomerase less frequently than that of short telomeres, which have fewer associated factors. Whether short telomeres actively recruit telomerase remains to be determined. Last, the recruitment of telomerase to telomeres shows cell-cycle regulation (Taggart et al. 2002; Smith et al. 2003; Fisher et al. 2004; Jady et al. 2006; Tomlinson et al. 2006). Presence of the telomeric protection complex shelterin at telomeres is necessary for the recruitment of telomerase. ACD (TPP1), the subunit of the shelterin complex, directly interacts, through its TEL patch region, with telomerase and is required for telomerase function in vivo (Abreu et al. 2010, Nandakumar et al. 2012, Sexton et al. 2014). The interaction involves the TEN domain of TERT (Schmidt et al. 2014).
The helicase RTEL1 is recruited to telomeres in S phase via direct interaction with the shelterin complex subunit TREF2. RTEL1 is needed for T-loop unwinding and resolution of telomeric G-quadruplex (G4) DNA structures, necessary steps for efficient telomere replication (Vannier et al. 2012, Sarek et al. 2015). Germline mutations in RTEL1 cause a severe form of dyskeratosis congenita, a telomere disorder syndrome, called Hoyeraal Hreidarsson syndrome (Ballew, Yeager et al. 2013; Walne et al. 2013; Ballew, Joseph et al. 2013, Le Guen et al. 2013, Deng et al. 2013). Loading of RTEL1 to telomere ends is negatively regulated outside of S phase by CDK2:CCNA-mediated phosphorylation of the shelterin complex subunit TERF2 at serine residue S365. At the S phase entry, TERF2 is dephosphorylated by the PP6 phosphatase, thus allowing timely RTEL1 loading (Sarek et al. 2019).",
"cellular_location": "nucleoplasm",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"Q9NZ71-1",
"O00743-1",
"O60832-1",
"P24941-1",
"O14746-1"
],
"evidence": [
{
"id": "R-HSA-163096",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-163096"
}
]
},
{
"id": "R-HSA-163099",
"name": "Alignment Of The RNA Template On The Telomeric Chromosome End",
"equation": "",
"summary": "In vitro studies of telomerase complexes derived from multiple organisms indicate that at least two types of interactions are important for telomerase RNP catalytic site alignment at the 3' G-rich single-strand telomere end. In one interaction, an alignment region in hTERC base-pairs with the 3' G-rich single-strand telomeric DNA end to form an RNA-DNA hybrid, which positions the template adjacent to the 3' end of the telomere. In a second interaction, a portion of hTERT is proposed to interact with the DNA 5' of the telomerase RNA/DNA primer hybrid (Harrington and Greider 1991; Morin 1991; Moriarty et al. 2005), which is important for the catalytic rate (Lee and Blackburn, 1993) and presumably allows telomerase to maintain contact with the chromosome during the translocation step. How the anchor site binding and template hybridization are coordinated is not known.",
"cellular_location": "nucleoplasm",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"Q9NZ71-1",
"O60832-1",
"O14746-1"
],
"evidence": [
{
"id": "R-HSA-163099",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-163099"
}
]
},
{
"id": "R-HSA-163120",
"name": "Disassociation of Telomerase RNP and the Chromosome End",
"equation": "",
"summary": "In vitro, telomerase can disassociate from the primer following addition of each nucleotide or during the translocation step. The regulation of telomerase disassociation from the telomere in vivo is not well-characterized (de Lange 2002, Zhu et al. 2003, Ye et al. 2004, Smorgozewska and de Lange 2004, Tomita 2018). One factor that may be involved is a helicase termed hPIF1, which can unanneal the telomerase RNA/telomeric DNA hybrid (Boule et al. 2005; Zhang et al. 2006). PIF1 can directly interact with telomerase (Mateyak and Zakian 2006) and it acts to inhibit telomerase activity and telomere lengthening (Zhang et al. 2006, Paeschke et al. 2013).
In addition to regulation of telomere lengthening, PIF1 is also involved in resolution of G-quadruplex (G4) structures in single-stranded nucleic acid intermediates that form during DNA replication and gene expression (Sanders 2010, Paeschke et al. 2013).",
"cellular_location": "nucleoplasm",
"input_participant_list": [],
"output_participant_list": [
"R-ALL-9668967",
"R-HSA-5686112"
],
"enzyme_list": [
"Q9NZ71-1",
"Q9H611-1",
"O60832-1",
"O14746-1"
],
"evidence": [
{
"id": "R-HSA-163120",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-163120"
}
]
},
{
"id": "R-HSA-164616",
"name": "Biogenesis and assembly of the telomerase RNP",
"equation": "",
"summary": "hTERC is transcribed as a precursor and is processed at its 3' end to yield a 451 nucleotide RNA (Zaug et al. 1996). The accumulation of hTERC that has undergone this processing event requires a conserved region of sequence termed the box H/ACA motif (Mitchell et al. 1999a). This motif is bound by a complex containing DKC1 (dyskerin), and mutations in dyskerin affect the processing and accumulation of hTERC (Mitchell et al. 1999b; Mitchell and Collins 2000; Fu and Collins 2003). Studies of purified, catalytically active telomerase indicate that the minimal structure that has telomerase activity in vitro is a complex of one molecule of hTERC RNA, one molecule of hTERT and two molecules of DKC1 (dyskerin) (Cohen et al. 2007). A cryo-electron microscopy (EM) structure of human substrate-bound telomerase holoenzyme revealed that, in addition to one molecule of hTERC RNA, one molecule of hTERT and two molecules of DKC1, the holoenzyme also contains one molecule of WRAP53 (TCAB1, also known as telomere Cajal body protein 1) and two molecules of each NOP10, NHP2 (NOLA2) and GAR1 (Nguyen et al. 2018). WRAP53 is needed for the activity and localization of the telomerase holoenzyme to Cajal bodies (Venteicher et al. 2009). Homozygosity for NHP2 mutations is associated with telomerase failure (dyskeratosis congenita) in humans (Vuillamy et al. 2008). Several additional proteins may associate with the holoenzyme, promoting its assembly and modulating its activity. RUVBL1 (pontin) and RUVBL2 (reptin) are found associated with human telomerase RNPs purified from HeLa cells, and activities of these proteins are required for telomerase RNP assembly in vivo (Venteicher et al. 2008). Pontin and reptin may modulate the interaction between SHQ1 and DKC1 (Machado-Pinilla et al. 2012), but as their exact roles in the assembly and function of telomerase RNP remain unclear, they are annotated simply as positive regulators of telomerase RNP formation.
The core components hTERC and hTERT undergo trafficking in the cell that may be important for telomerase function. hTERC has been found localized in multiple nuclear structures, including Cajal bodies, nucleoli, and at telomeres (Mitchell et al. 1999a; Jady et al. 2004; Zhu et al. 2004; Jady et al. 2006; Tomlinson et al. 2006). hTERT is also reported localize in Cajal bodies, nucleoli, and to associate with telomeres (Etheridge et al. 2002; Wong et al. 2002; Yang et al. 2002; Zhu et al. 2004; Tomlinson et al. 2006). Some of the factors that regulate trafficking of these two core components of telomerase have been identified, such as nucleolin (Khurts et al. 2004), SMN (Bachand et al. 2002), and 14-3-3 (Seimiya et al. 2000). Cytological studies of HeLa cells suggest that the localization of the telomerase core components can change through the cell-cycle (Jady et al. 2006; Tomlinson et al. 2006). Despite these studies, it is not clear in which compartment hTERT and hTERC assemble to form functional telomerase RNP.
The assembly of telomerase involves the chaperone proteins p23 and Hsp90, which stably associate with telomerase in vitro (Holt et al. 1999; Forsythe et al. 2001; Keppler et al. 2006). A number of other proteins interact with the telomerase RNP, but it is not clear if they play a role in telomerase assembly. Interestingly, assembled human telomerase RNP can multimerize, though the function of multimerization remains unclear (Beattie et al. 2001; Wenz et al. 2001; Arai et al. 2002).",
"cellular_location": "nucleoplasm",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"O60832-1",
"Q9Y230-1",
"O14746-1",
"Q9Y265-1"
],
"evidence": [
{
"id": "R-HSA-164616",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-164616"
}
]
},
{
"id": "R-HSA-164617",
"name": "Elongation of Extended Telomeric Chromosome End",
"equation": "",
"summary": "The elongation reaction proceeds as follows: The template of hTERC directs the sequential addition of nucleotides to the 3' telomeric DNA end. Following addition of a nucleotide, the template and catalytic site must move relative to one another within the telomerase RNP to place the appropriate template residue in the active site. As base-pairing and nucleotide addition occur at one end of the template, base pair melting occurs at the other (Collins and Greider 1993; Wang and Blackburn, 1997; Hammond and Cech 1998; Benjamin et al. 2000; Forstemann and Lingner 2005). This un-pairing is thought to reduce the energy used for mediating the subsequent translocation step. Nucleotide addition can occur up until the template boundary which in hTERC is defined by a helix called P1b (Chen and Greider 2003).
",
"cellular_location": "nucleoplasm",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"Q9NZ71-1",
"O60832-1",
"O14746-1"
],
"evidence": [
{
"id": "R-HSA-164617",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-164617"
}
]
},
{
"id": "R-HSA-164620",
"name": "Translocation Of Telomerase RNP And Alignment Of RNA Template (TERC) To Extended Single Stranded Telomeric Chromosome-End",
"equation": "",
"summary": "The human telomerase RNP can catalyze multiple rounds of repeat addition on the same telomeric substrate in vitro. Before initiating synthesis of another repeat, telomerase undergoes a translocation step to reposition itself on the telomere. Base pairs in the DNA/RNA hybrid are unannealed, the RNA template is repositioned relative to the active site, and the template base-pairs at the 3' end of the newly synthesized DNA. The anchor site interaction with DNA 5' of the RNA-DNA duplex is thought to maintain the interaction of telomerase with DNA during the translocation step.",
"cellular_location": "nucleoplasm",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"Q9NZ71-1",
"O60832-1",
"O14746-1"
],
"evidence": [
{
"id": "R-HSA-164620",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-164620"
}
]
},
{
"id": "R-HSA-6790905",
"name": "Box H/ACA snoRNP transforms uridine to pseudouridine in pre-rRNA",
"equation": "",
"summary": "Box H/ACA snoRNP complexes convert uridine to pseudouridine at 97 sites in human 28S, 18S, and 5.8S rRNAs (Kiss et al. 2004, reviewed in Ge and Yu 2013). The box H/ACA snoRNA component guides the complex to specific residues of the rRNAs by base pairing between the regions of the snoRNA and the rRNA (Kiss et al. 2004, Xiao et al. 2009). The human genome encodes more than 80 box H/ACA snoRNAs (Lestrade and Weber 2006).",
"cellular_location": "nucleoplasm",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"O60832-1"
],
"evidence": [
{
"id": "R-HSA-6790905",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6790905"
}
]
},
{
"id": "R-HSA-9671145",
"name": "DKC1 binds SHQ1",
"equation": "",
"summary": "SHQ1 is an evolutionarily conserved protein involved in assembly of H/ACA ribonucleoparticles, including telomerase RNPs. SHQ1 binds to DKC1 (dyskerin) and, by sequestering DKC1, it regulates the step-wise functional assembly of the telomerase holoenzyme (Grozdanov, Roy et al. 2009). A subset of DKC1 (dyskerin) mutations that cause dyskeratosis congenita, a rare bone marrow failure syndrome, modulate the affinity of DKC1 for SHQ1, thus preventing the assembly of telomerase RNPs (Grozdanov, Fernandez-Fuentes et al. 2009). Rarely, mutations in SHQ1 that impair binding to DKC1 cause a dyskeratosis congenita-like disease phenotype (Bizarro and Meier 2017).",
"cellular_location": "nucleoplasm",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"O60832-1"
],
"evidence": [
{
"id": "R-HSA-9671145",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9671145"
}
]
}
],
"reaction_participants": [
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"participant_name": "H+ [nucleoplasm]",
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{
"participant_id": "R-HSA-5686112",
"participant_name": "RTEL1 [nucleoplasm]",
"crossref": [
{
"id": "ENST00000508582",
"database": "Ensembl",
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{
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