{
"uniprot_canonical_ac": "A6NNM8-1",
"uniprot_ac": "A6NNM8",
"uniprot_id": "TTL13_HUMAN",
"mass": {
"chemical_mass": 93645.0,
"monoisotopic_mass": 93645.0
},
"refseq": {},
"gene_names": [
{
"name": "TTLL13",
"resource": "UniProtKB",
"type": "recommended",
"url": "https://www.uniprot.org/uniprot/A6NNM8",
"id": "A6NNM8"
},
{
"name": "TTLL13P",
"resource": "UniProtKB",
"type": "synonym",
"url": "https://www.uniprot.org/uniprot/A6NNM8",
"id": "A6NNM8"
}
],
"protein_names": [
{
"name": "Tubulin polyglutamylase TTLL13",
"resource": "UniProtKB",
"type": "recommended",
"url": "",
"id": "A6NNM8"
},
{
"name": "6.3.2.-",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "A6NNM8"
},
{
"name": "Tubulin tyrosine ligase like 13",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "A6NNM8"
},
{
"name": "Tubulin tyrosine ligase-like family member 13 pseudogene",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "A6NNM8"
},
{
"name": "Tubulin--tyrosine ligase-like protein 13",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "A6NNM8"
}
],
"function": [
{
"annotation": "Polyglutamylase which modifies tubulin, generating polyglutamate side chains of variable lengths on the gamma-carboxyl group of specific glutamate residues within the C-terminal tail of tubulin. Mediates ATP-dependent polyglutamate side-chain elongation of the polyglutamylation reaction but not the initiation step. Preferentially modifies the alpha-tubulin tail over a beta-tail.",
"evidence": [
{
"database": "UniProtKB",
"id": "A6NNM8",
"url": "https://www.uniprot.org/uniprot/A6NNM8#function"
},
{
"database": "UniProtKB",
"id": "A4Q9F6",
"url": "https://www.uniprot.org/uniprot/A4Q9F6#function"
}
]
}
],
"disease": [],
"snv": [],
"mutagenesis": [
{
"start_pos": 425,
"end_pos": 427,
"sequence_org": "KRK",
"sequence_mut": "EEE",
"comment": "Decreased binding to microtubules and polyglutamylase activity; when associated with 451-E-E-452.",
"evidence": [
{
"database": "UniProtKB",
"id": "A6NNM8",
"url": "https://www.uniprot.org/uniprot/A6NNM8"
},
{
"database": "PubMed",
"id": "25959773",
"url": "https://glygen.org/publication/PubMed/25959773"
}
]
},
{
"start_pos": 451,
"end_pos": 452,
"sequence_org": "RK",
"sequence_mut": "EE",
"comment": "Decreased binding to microtubules and polyglutamylase activity; when associated with 425-E--E-427.",
"evidence": [
{
"database": "UniProtKB",
"id": "A6NNM8",
"url": "https://www.uniprot.org/uniprot/A6NNM8"
},
{
"database": "PubMed",
"id": "25959773",
"url": "https://glygen.org/publication/PubMed/25959773"
}
]
}
],
"expression_tissue": [
{
"tissue": {
"name": "Adult mammalian kidney",
"namespace": "UBERON",
"id": "0000082",
"url": "http://purl.obolibrary.org/obo/UBERON_0000082"
},
"score": "53.06",
"present": "MEDIUM",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000213471",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000213471"
}
]
},
{
"tissue": {
"name": "Oral cavity",
"namespace": "UBERON",
"id": "0000167",
"url": "http://purl.obolibrary.org/obo/UBERON_0000167"
},
"score": "52.57",
"present": "ABSENT",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000213471",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000213471"
}
]
},
{
"tissue": {
"name": "Stomach",
"namespace": "UBERON",
"id": "0000945",
"url": "http://purl.obolibrary.org/obo/UBERON_0000945"
},
"score": "51.05",
"present": "MEDIUM",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000213471",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000213471"
}
]
},
{
"tissue": {
"name": "Esophagus",
"namespace": "UBERON",
"id": "0001043",
"url": "http://purl.obolibrary.org/obo/UBERON_0001043"
},
"score": "49.09",
"present": "LOW",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000213471",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000213471"
}
]
},
{
"tissue": {
"name": "Rectum",
"namespace": "UBERON",
"id": "0001052",
"url": "http://purl.obolibrary.org/obo/UBERON_0001052"
},
"score": "55.68",
"present": "MEDIUM",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000213471",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000213471"
}
]
},
{
"tissue": {
"name": "Urinary bladder",
"namespace": "UBERON",
"id": "0001255",
"url": "http://purl.obolibrary.org/obo/UBERON_0001255"
},
"score": "49.14",
"present": "ABSENT",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000213471",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000213471"
}
]
},
{
"tissue": {
"name": "Thyroid gland",
"namespace": "UBERON",
"id": "0002046",
"url": "http://purl.obolibrary.org/obo/UBERON_0002046"
},
"score": "50.83",
"present": "MEDIUM",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000213471",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000213471"
}
]
},
{
"tissue": {
"name": "Liver",
"namespace": "UBERON",
"id": "0002107",
"url": "http://purl.obolibrary.org/obo/UBERON_0002107"
},
"score": "46.24",
"present": "LOW",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000213471",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000213471"
}
]
},
{
"tissue": {
"name": "Prostate gland",
"namespace": "UBERON",
"id": "0002367",
"url": "http://purl.obolibrary.org/obo/UBERON_0002367"
},
"score": "55.86",
"present": "MEDIUM",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000213471",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000213471"
}
]
},
{
"tissue": {
"name": "Thoracic mammary gland",
"namespace": "UBERON",
"id": "0005200",
"url": "http://purl.obolibrary.org/obo/UBERON_0005200"
},
"score": "48.91",
"present": "LOW",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000213471",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000213471"
}
]
}
],
"expression_disease": [
{
"significant": "Yes",
"trend": "up",
"name": "Prostate cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:10283",
"evidence": [
{
"database": "BioXpress",
"id": "A6NNM8",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A6NNM8"
}
],
"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",
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"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",
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"url": "https://www.omim.org/entry/611868",
"name": "Prostate cancer, hereditary, 12",
"description": "Prostate cancer, hereditary, 12"
},
{
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"resource": "MIM",
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"name": "Prostate cancer, hereditary, 13",
"description": "Prostate cancer, hereditary, 13"
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{
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"resource": "MIM",
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"name": "Prostate cancer",
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{
"id": "MIM:601518",
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{
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}
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},
{
"significant": "Yes",
"trend": "up",
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{
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{
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"resource": "MONDO",
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{
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"resource": "MONDO",
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"name": "gastric neoplasm",
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},
{
"id": "MONDO:0001056",
"resource": "MONDO",
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"name": "Ca lesser curvature - stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
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"name": "cancer of stomach",
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},
{
"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",
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},
{
"id": "MONDO:0001056",
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"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",
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},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant neoplasm of stomach",
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},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant neoplasm of the stomach",
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},
{
"id": "MONDO:0001056",
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"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant stomach neoplasm",
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},
{
"id": "MONDO:0001056",
"resource": "MONDO",
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"name": "malignant tumor of body of stomach",
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},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumor of greater curve of stomach",
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},
{
"id": "MONDO:0001056",
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"name": "malignant tumor of lesser curve of stomach",
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},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumor of stomach",
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},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumor of the stomach",
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},
{
"id": "MONDO:0001056",
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"name": "malignant tumour of body of stomach",
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},
{
"id": "MONDO:0001056",
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"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumour of greater curve of stomach",
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},
{
"id": "MONDO:0001056",
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"name": "malignant tumour of lesser curve of stomach",
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},
{
"id": "MONDO:0001056",
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"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumour of stomach",
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},
{
"id": "MONDO:0001056",
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"name": "malignant tumour of the stomach",
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},
{
"id": "MONDO:0001056",
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},
{
"id": "MONDO:0001056",
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},
{
"id": "MONDO:0001056",
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},
{
"id": "MONDO:0001056",
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"name": "malignant neoplasm of body of stomach",
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},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "gastric cancer, intestinal",
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},
{
"id": "MIM:613659",
"resource": "MIM",
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]
}
]
},
{
"significant": "Yes",
"trend": "up",
"name": "Urinary bladder cancer [DO disease name]",
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{
"id": "DOID:11054",
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{
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"name": "urinary bladder cancer",
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},
{
"id": "MONDO:0001187",
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"name": "tumor of the bladder",
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},
{
"id": "MONDO:0001187",
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"name": "tumour of the bladder",
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},
{
"id": "MONDO:0001187",
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},
{
"id": "MONDO:0001187",
"resource": "MONDO",
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"name": "cancer of urinary bladder",
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},
{
"id": "MONDO:0001187",
"resource": "MONDO",
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"name": "malignant bladder neoplasm",
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},
{
"id": "MONDO:0001187",
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"name": "malignant bladder tumor",
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},
{
"id": "MONDO:0001187",
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"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant bladder tumour",
"description": ""
},
{
"id": "MONDO:0001187",
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"name": "malignant neoplasm of bladder",
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},
{
"id": "MONDO:0001187",
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"name": "malignant neoplasm of the bladder",
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},
{
"id": "MONDO:0001187",
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"name": "malignant neoplasm of the urinary bladder",
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},
{
"id": "MONDO:0001187",
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"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm of urinary bladder",
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},
{
"id": "MONDO:0001187",
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"name": "malignant neoplasm, bladder",
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},
{
"id": "MONDO:0001187",
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"name": "malignant neoplasm, urinary bladder",
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},
{
"id": "MONDO:0001187",
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"name": "malignant tumor of bladder",
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},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumor of the bladder",
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},
{
"id": "MONDO:0001187",
"resource": "MONDO",
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"name": "malignant tumor of the urinary bladder",
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},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumor of urinary bladder",
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},
{
"id": "MONDO:0001187",
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"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumor, urinary bladder",
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},
{
"id": "MONDO:0001187",
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"name": "malignant tumour of bladder",
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},
{
"id": "MONDO:0001187",
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"name": "malignant tumour of the bladder",
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},
{
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"name": "malignant tumour of the urinary bladder",
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},
{
"id": "MONDO:0001187",
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},
{
"id": "MONDO:0001187",
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},
{
"id": "MONDO:0001187",
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},
{
"id": "MONDO:0001187",
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},
{
"id": "MONDO:0001187",
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},
{
"id": "MONDO:0001187",
"resource": "MONDO",
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"name": "urinary bladder malignant neoplasm",
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},
{
"id": "MONDO:0001187",
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},
{
"id": "MONDO:0001187",
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"name": "urinary bladder malignant tumour",
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{
"id": "MIM:109800",
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]
}
]
},
{
"significant": "Yes",
"trend": "up",
"name": "Head and neck cancer [DO disease name]",
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{
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{
"id": "DOID:11934",
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},
{
"id": "DOID:11934",
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]
},
{
"significant": "Yes",
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{
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{
"disease_id": "DOID:1324",
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{
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},
{
"id": "MONDO:0012159",
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{
"id": "MONDO:0012159",
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},
{
"id": "MONDO:0012159",
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},
{
"id": "MONDO:0012942",
"resource": "MONDO",
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"name": "lung cancer susceptibility 3",
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},
{
"id": "MONDO:0012942",
"resource": "MONDO",
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"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": "A6NNM8",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A6NNM8"
}
],
"disease": [
{
"disease_id": "DOID:1612",
"recommended_name": {
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "breast cancer",
"description": "A thoracic cancer that originates in the mammary gland."
},
"synonyms": [
{
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "breast tumor",
"description": ""
},
{
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "malignant neoplasm of breast",
"description": ""
},
{
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "malignant tumor of the breast",
"description": ""
},
{
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "mammary cancer",
"description": ""
},
{
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "mammary tumor",
"description": ""
},
{
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "primary breast cancer",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "hereditary breast carcinoma",
"description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma."
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer susceptibility, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, lobular, somatic",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, protection against, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, somatic",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "familial breast cancer",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "familial breast carcinoma",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "familial cancer of breast",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "familial cancer of the breast",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "hereditary breast cancer",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "hereditary breast carcinoma",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, familial",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, familial Male",
"description": ""
},
{
"id": "MIM:114480",
"resource": "MIM",
"url": "https://www.omim.org/entry/114480",
"name": "Breast cancer",
"description": "Breast cancer"
}
]
}
]
},
{
"significant": "Yes",
"trend": "down",
"name": "Thyroid cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:1781",
"evidence": [
{
"database": "BioXpress",
"id": "A6NNM8",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A6NNM8"
}
],
"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": "A6NNM8",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A6NNM8"
}
],
"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": "A6NNM8",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A6NNM8"
}
],
"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": "A6NNM8",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A6NNM8"
}
],
"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": "No",
"trend": "down",
"name": "Esophageal cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:5041",
"evidence": [
{
"database": "BioXpress",
"id": "A6NNM8",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A6NNM8"
}
],
"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",
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"header": "tr|A0A1W2PRM3-1|TTL13_HUMAN Computationally mapped isoform of Tubulin polyglutamylase TTLL13 OS=Homo sapiens OX=9606 GN=TTLL13 PE=1 SV=1 CANONICAL=A6NNM8-1"
},
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{
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"id": "ENSP00000492322.1",
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{
"isoform_ac": "A0A286YFC2-1",
"url": "",
"sequence": {
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"length": 751,
"header": "tr|A0A286YFC2-1|TTL13_HUMAN Computationally mapped isoform of Tubulin polyglutamylase TTLL13 OS=Homo sapiens OX=9606 GN=TTLL13 PE=1 SV=1 CANONICAL=A6NNM8-1"
},
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"id": "ENST00000641754.2",
"url": "https://www.ensembl.org/id/ENST00000641754.2"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000493387.1",
"url": "https://www.ensembl.org/id/ENSP00000493387.1"
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}
},
{
"isoform_ac": "A6NNM8-1",
"url": "",
"sequence": {
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"length": 815,
"header": "sp|A6NNM8-1|TTL13_HUMAN Isoform 1 of Tubulin polyglutamylase TTLL13 OS=Homo sapiens OX=9606 GN=TTLL13 PE=1 SV=2 CANONICAL=A6NNM8-1"
},
"locus": {
"chromosome": "15",
"start_pos": 90264964,
"end_pos": 90250631,
"strand": "-",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000438251.3",
"url": "https://www.ensembl.org/id/ENST00000438251.3"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000491066.1",
"url": "https://www.ensembl.org/id/ENSP00000491066.1"
}
]
}
},
{
"isoform_ac": "A6NNM8-2",
"url": "",
"sequence": {
"sequence": "MEPSTCRTMESEEDYVEEKESEKCVKEGVTNPSNSSQQALLKADYKALKNGVPSPIMATKIPKKVIAPVDTGDLEAGRRKRRRKRRSLAINLTNCKYESVRRAAQMCGLKEVGEDEEWTLYWTDCAVSLERVMDMKRFQKINHFPGMTEICRKDLLARNLNRMYKLYPSEYNIFPRTWCLPADYGDFQSYGRQRKARTYICKPDSGCQGRGIFITRNPREIKPGEHMICQQYISKPLLIDGFKFDMRVYVLITSCDPLRIFTYEEGLARFATTPYMEPSHNNLDNVCMHLTNYAINKHNENFVRDGAVGSKRKLSTLNIWLQEHSYNPGELWGDIEDIIIKTIISAHSVLRHNYRTCFPQYLNGGTCACFEILGFDILLDHKLKPWLLEVNHSPSFTTDSCLDQEVKDALLCDAMTLVNLRGCDKRKVMEEDKRRVKERLFQCYRQPRESRCARCLACV",
"length": 459,
"header": "sp|A6NNM8-2|TTL13_HUMAN Isoform 2 of Tubulin polyglutamylase TTLL13 OS=Homo sapiens OX=9606 GN=TTLL13 PE=1 SV=2 CANONICAL=A6NNM8-1"
},
"locus": {}
}
],
"glycosylation": [],
"phosphorylation": [],
"glycation": [],
"keywords": [
"enzyme"
],
"publication": [
{
"title": "Steady-state kinetic mechanism of bovine brain tubulin: tyrosine ligase.",
"journal": "The Biochemical journal",
"date": "1992",
"authors": "Deans NL, Allison RD, Purich DL",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-8955332",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8955332"
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{
"type": "PubMed",
"id": "1520276",
"url": "https://glygen.org/publication/PubMed/1520276"
}
]
},
{
"title": "Tubulin polyglutamylase enzymes are members of the TTL domain protein family.",
"journal": "Science (New York, N.Y.)",
"date": "2005",
"authors": "Janke C, Rogowski K, Wloga D, Regnard C, Kajava AV, Strub JM, Temurak N, van Dijk J, Boucher D, van Dorsselaer A, Suryavanshi S, Gaertig J, Edde B",
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"database": "Reactome",
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"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8955332"
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],
"reference": [
{
"type": "PubMed",
"id": "15890843",
"url": "https://glygen.org/publication/PubMed/15890843"
}
]
},
{
"title": "TTLL7 is a mammalian beta-tubulin polyglutamylase required for growth of MAP2-positive neurites.",
"journal": "The Journal of biological chemistry",
"date": "2006",
"authors": "Ikegami K, Mukai M, Tsuchida J, Heier RL, Macgregor GR, Setou M",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-8955332",
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],
"reference": [
{
"type": "PubMed",
"id": "16901895",
"url": "https://glygen.org/publication/PubMed/16901895"
}
]
},
{
"title": "Nna1-like proteins are active metallocarboxypeptidases of a new and diverse M14 subfamily.",
"journal": "FASEB journal : official publication of the Federation of American Societies for Experimental Biology",
"date": "2007",
"authors": "Rodriguez de la Vega M, Sevilla RG, Hermoso A, Lorenzo J, Tanco S, Diez A, Fricker LD, Bautista JM, Aviles FX",
"evidence": [
{
"database": "Reactome",
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{
"type": "PubMed",
"id": "17244817",
"url": "https://glygen.org/publication/PubMed/17244817"
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]
},
{
"title": "A novel subfamily of mouse cytosolic carboxypeptidases.",
"journal": "FASEB journal : official publication of the Federation of American Societies for Experimental Biology",
"date": "2007",
"authors": "Kalinina E, Biswas R, Berezniuk I, Hermoso A, Aviles FX, Fricker LD",
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"database": "Reactome",
"id": "R-HSA-8955332",
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"type": "PubMed",
"id": "17244818",
"url": "https://glygen.org/publication/PubMed/17244818"
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]
},
{
"title": "Loss of alpha-tubulin polyglutamylation in ROSA22 mice is associated with abnormal targeting of KIF1A and modulated synaptic function.",
"journal": "Proceedings of the National Academy of Sciences of the United States of America",
"date": "2007",
"authors": "Ikegami K, Heier RL, Taruishi M, Takagi H, Mukai M, Shimma S, Taira S, Hatanaka K, Morone N, Yao I, Campbell PK, Yuasa S, Janke C, Macgregor GR, Setou M",
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"database": "Reactome",
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"type": "PubMed",
"id": "17360631",
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},
{
"title": "A targeted multienzyme mechanism for selective microtubule polyglutamylation.",
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"date": "2007",
"authors": "van Dijk J, Rogowski K, Miro J, Lacroix B, Edde B, Janke C",
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"database": "Reactome",
"id": "R-HSA-8955332",
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"type": "PubMed",
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{
"title": "TTLL10 is a protein polyglycylase that can modify nucleosome assembly protein 1.",
"journal": "FEBS letters",
"date": "2008",
"authors": "Ikegami K, Horigome D, Mukai M, Livnat I, MacGregor GR, Setou M",
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"database": "Reactome",
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"type": "PubMed",
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]
},
{
"title": "Evolutionary divergence of enzymatic mechanisms for posttranslational polyglycylation.",
"journal": "Cell",
"date": "2009",
"authors": "Rogowski K, Juge F, van Dijk J, Wloga D, Strub JM, Levilliers N, Thomas D, Bre MH, Van Dorsselaer A, Gaertig J, Janke C",
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],
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"type": "PubMed",
"id": "19524510",
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}
]
},
{
"title": "TTLL3 Is a tubulin glycine ligase that regulates the assembly of cilia.",
"journal": "Developmental cell",
"date": "2009",
"authors": "Wloga D, Webster DM, Rogowski K, Bre MH, Levilliers N, Jerka-Dziadosz M, Janke C, Dougan ST, Gaertig J",
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],
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{
"type": "PubMed",
"id": "19531357",
"url": "https://glygen.org/publication/PubMed/19531357"
}
]
},
{
"title": "Identification of tubulin deglutamylase among Caenorhabditis elegans and mammalian cytosolic carboxypeptidases (CCPs).",
"journal": "The Journal of biological chemistry",
"date": "2010",
"authors": "Kimura Y, Kurabe N, Ikegami K, Tsutsumi K, Konishi Y, Kaplan OI, Kunitomo H, Iino Y, Blacque OE, Setou M",
"evidence": [
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"database": "Reactome",
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],
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"type": "PubMed",
"id": "20519502",
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}
]
},
{
"title": "A family of protein-deglutamylating enzymes associated with neurodegeneration.",
"journal": "Cell",
"date": "2010",
"authors": "Rogowski K, van Dijk J, Magiera MM, Bosc C, Deloulme JC, Bosson A, Peris L, Gold ND, Lacroix B, Bosch Grau M, Bec N, Larroque C, Desagher S, Holzer M, Andrieux A, Moutin MJ, Janke C",
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}
]
},
{
"title": "Structural basis of tubulin tyrosination by tubulin tyrosine ligase.",
"journal": "The Journal of cell biology",
"date": "2013",
"authors": "Prota AE, Magiera MM, Kuijpers M, Bargsten K, Frey D, Wieser M, Jaussi R, Hoogenraad CC, Kammerer RA, Janke C, Steinmetz MO",
"evidence": [
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],
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"type": "PubMed",
"id": "23358242",
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]
},
{
"title": "The cytosolic carboxypeptidases CCP2 and CCP3 catalyze posttranslational removal of acidic amino acids.",
"journal": "Molecular biology of the cell",
"date": "2014",
"authors": "Tort O, Tanco S, Rocha C, Bieche I, Seixas C, Bosc C, Andrieux A, Moutin MJ, Aviles FX, Lorenzo J, Janke C",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-8955332",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8955332"
}
],
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{
"type": "PubMed",
"id": "25103237",
"url": "https://glygen.org/publication/PubMed/25103237"
}
]
},
{
"title": "Post-translational modifications of tubulin: pathways to functional diversity of microtubules.",
"journal": "Trends in cell biology",
"date": "2015",
"authors": "Song Y, Brady ST",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-8955332",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8955332"
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],
"reference": [
{
"type": "PubMed",
"id": "25468068",
"url": "https://glygen.org/publication/PubMed/25468068"
}
]
},
{
"title": "Writing and Reading the Tubulin Code.",
"journal": "The Journal of biological chemistry",
"date": "2015",
"authors": "Yu I, Garnham CP, Roll-Mecak A",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-8955332",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8955332"
}
],
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{
"type": "PubMed",
"id": "25957412",
"url": "https://glygen.org/publication/PubMed/25957412"
}
]
},
{
"title": "Multivalent Microtubule Recognition by Tubulin Tyrosine Ligase-like Family Glutamylases.",
"journal": "Cell",
"date": "2015",
"authors": "Garnham CP, Vemu A, Wilson-Kubalek EM, Yu I, Szyk A, Lander GC, Milligan RA, Roll-Mecak A",
"evidence": [
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"type": "PubMed",
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}
]
},
{
"title": "Vasohibins/SVBP are tubulin carboxypeptidases (TCPs) that regulate neuron differentiation.",
"journal": "Science (New York, N.Y.)",
"date": "2017",
"authors": "Aillaud C, Bosc C, Peris L, Bosson A, Heemeryck P, Van Dijk J, Le Friec J, Boulan B, Vossier F, Sanman LE, Syed S, Amara N, Coute Y, Lafanechere L, Denarier E, Delphin C, Pelletier L, Humbert S, Bogyo M, Andrieux A, Rogowski K, Moutin MJ",
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"type": "PubMed",
"id": "29146868",
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}
]
},
{
"title": "Tubulinyl-tyrosine carboxypeptidase from chicken brain: properties and partial purification.",
"journal": "Journal of neurochemistry",
"date": "1980",
"authors": "Argarana CE, Barra HS, Caputto R",
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]
}
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"resource": "Reactome",
"description": "Carboxyterminal post-translational modifications of tubulin"
}
],
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"tax_id": 10116,
"organism": "Rattus norvegicus",
"sequence": {
"sequence": "MEPNACKTSESEEDDIEEEESEEECVREESTTPNSSQQALGKADYKEFENGVALSVVAKNIPKKILSTTDTDDLEVGRRKRKRKRRPLAINLTNCKYESVRRAAQMCGLKEVGEDEEWTVYWTDCSVSLERVMDMKRFQKINHFPGMTEICRKDLLARNLNRMQKLYPTEYNIFPRTWCLPADYGDFQAYGRQRKTRTYICKPDSGCQGRGIFITRTPKEIKPGEHMICQQYITKPFLIDGFKFDMRIYVLITSCDPLRIFMYEEGLARFATMPYVEPSHNNLEEVCMHLTNYAINKHNENFVRDDAVGSKRKLSTLNAWLREHSHDPRELWGDIEDIIIKTIISAHSVLRHNYRTCFPQYLCGGTCACFEILGFDILLDHKLKPWLLEVNHSPSFTTDSRLDREVKDALLCDAMNLINLRGCDKKKVIEEEKRRVKERLFPCHQQPREARREQLESSQAAMHDQELYEDSHLGGYRRIYPGPDSEKYAPFFKHNGSLFQETAASKAREECARQQLEEIRLKQEQQENPGTKKRKENKEQNQGESAGEKSRSRVATRVLATNLAYRNRNQEKELLPVQLDTMQPQDIVEEEELERMKLLLQRENLIRSLGIVEQLTRMLYPSHRSHRKLHEYRPRFHQDGLSSQELQPVNLVPLVFLRGAASEHIPPHFLQPLRPHELIPRILGPLSSMNPAIAQHSRYHLQPKNFNWIGDSAATGPCSLSVKKSGRHYFSSSRVRLTSRKRRKAQQSTKE",
"length": 751
},
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}
],
"common_name": "Rat"
},
{
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"protein_name": "Tubulin polyglutamylase TTLL13",
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"tax_id": 10090,
"organism": "Mus musculus",
"sequence": {
"sequence": "MEPNNCKTSESEEDDIEEEESEEECVREESTTPNSTQQALRKADYKEFENGVALSVVAKKIPKKILSATDTDDLEVGRRRRKRKRRPLAINLTNCKYESVRRAAQMCGLKEVGEDEEWTVYWTDCSVSLERVMDMKRFQKINHFPGMTEICRKDLLARNLNRMQKLYPTEYNIFPRTWCLPADYGDFQAYGRQRKTRTYICKPDSGCQGRGIFITRTPKEIKPGEHMICQQYITKPFLIDGFKFDMRIYVLITSCDPLRIFMYEEGLARFATMPYVEPSHNNLEEVCMHLTNYAINKHNENFVRDDAVGSKRKLSTLNAWLREHSHDPQELWGDIEDIIIKTIISAHSVLRHNYRTCFPQYLCGGTCACFEILGFDILLDHKLKPWLLEVNHSPSFTTDSRLDREVKDALLCDAMNLVNLRGCDKKKVIEEDKRRVKERLFPCHQQPRETRREQFELSQAAMHDQERYEDSHLGGYRRIYPGPDSEKYAPFFKHNGSLFQETAASKAREECARQQLEEIRLKQEQQENPGTKKRKENKEQNQGESAGEKSRSRTATRVLATSLAYRNRNREKELLPVQLDTTQPQDIVEEEELERMKLLLQRENLIRSLGIVEQLTRMLYPSHRSHRKLHEYRPRFHQDGLSSQELQPVNLVPLVLLRGAASEQIPPHFLQPLRPHELIPRILGPLSSINPAIAQHSRYHLQPKNFNWIGDSAATGPCSLSMKKSGRHYISSSRVRLTSRKRRKAQHSTKTANGLQSLLIERLPTSSRLKSSGQDLCLQKAKNTETPRVLQHSKILWGSVKTKR",
"length": 804
},
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"id": "A6NNM8",
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"database": "OMA"
}
],
"common_name": "Mouse"
}
],
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{
"name": "Biological Process",
"total": 2,
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"name": "protein modification process",
"id": "GO:0036211",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036211",
"evidence": [
{
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"id": "A6NNM8",
"url": "https://www.uniprot.org/uniprot/A6NNM8"
}
],
"pmid": ""
},
{
"name": "microtubule cytoskeleton organization",
"id": "GO:0000226",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000226",
"evidence": [
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"id": "A6NNM8",
"url": "https://www.uniprot.org/uniprot/A6NNM8"
}
],
"pmid": ""
}
]
},
{
"name": "Molecular Function",
"total": 4,
"go_terms": [
{
"name": "tubulin-glutamic acid ligase activity",
"id": "GO:0070740",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070740",
"evidence": [
{
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"id": "A6NNM8",
"url": "https://www.uniprot.org/uniprot/A6NNM8"
}
],
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},
{
"name": "ATP binding",
"id": "GO:0005524",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524",
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{
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"id": "A6NNM8",
"url": "https://www.uniprot.org/uniprot/A6NNM8"
}
],
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},
{
"name": "metal ion binding",
"id": "GO:0046872",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872",
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"id": "A6NNM8",
"url": "https://www.uniprot.org/uniprot/A6NNM8"
}
],
"pmid": ""
},
{
"name": "tubulin binding",
"id": "GO:0015631",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015631",
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"database": "UniProtKB",
"id": "A6NNM8",
"url": "https://www.uniprot.org/uniprot/A6NNM8"
}
],
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}
]
},
{
"name": "Cellular Component",
"total": 3,
"go_terms": [
{
"name": "cytosol",
"id": "GO:0005829",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829",
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"id": "A6NNM8",
"url": "https://www.uniprot.org/uniprot/A6NNM8"
}
],
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},
{
"name": "microtubule",
"id": "GO:0005874",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005874",
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"id": "A6NNM8",
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}
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},
{
"name": "cilium",
"id": "GO:0005929",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005929",
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"id": "A6NNM8",
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}
]
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]
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{
"start_pos": 34,
"end_pos": 36,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 391,
"end_pos": 393,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 495,
"end_pos": 497,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 701,
"end_pos": 703,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 91,
"end_pos": 93,
"annotation": "n_glycosylation_sequon"
}
],
"ptm_annotation": [],
"interactions": [],
"reactions": [
{
"id": "60148",
"name": "",
"equation": "(L-glutamyl)(n)-gamma-L-glutamyl-L-glutamyl-[protein] + ATP + L-glutamate = (L-glutamyl)(n+1)-gamma-L-glutamyl-L-glutamyl-[protein] + ADP + H(+) + phosphate",
"summary": "",
"cellular_location": "",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"Q641W7-1",
"Q5PPI9-1",
"Q8NHH1-1",
"Q6EMB2-1",
"Q3SXZ7-1",
"Q8N841-1",
"O95922-1",
"Q6ZT98-1",
"A6NNM8-1",
"A4Q9F4-1",
"Q91V51-1",
"Q8CHB8-1",
"A2APC3-1",
"A4Q9E8-1",
"A4Q9F0-1",
"A4Q9F6-1"
],
"evidence": [
{
"id": "60148",
"database": "Rhea",
"url": "https://www.rhea-db.org/rhea/60148"
}
]
},
{
"id": "R-HSA-8865774",
"name": "TTLLs polyglutamylate tubulin",
"equation": "",
"summary": "Tubulin is modified by glutamylation and glycylation, the additon of peptide branches made of glutamyl or glycyl residues respectively, which are attached to the gamma-carboxyl group of glutamic acids within the C-terminal tail domains of alpha- and beta-tubulin. Glutamylation, the most prevalent tubulin posttranslational modification, marks stable microtubules and regulates recruitment and activity of microtubule-interacting proteins. Hyperglutamylation in Purkinje cell degeneration (pcd) mice leads to neurodegeneration (Rogowski et al. 2010).
Nine enzymes of the tubulin tyrosine ligase-like (TTLL) family catalyze glutamylation (Garhnam & Roll-Mecak 2012, Garnham et al. 2015). TTLLs can have a preference for either alpha- or beta-tubulin, although many are able to modify either (Janke et al. 2005, Ikegami et al. 2006, van Dijk et al. 2007). Initial characterization of the mouse TTLL family showed that TTLL1, 5, 6, 11, and 13 preferentially poly-glutamylate alpha-tubulin, while TTLL4 and 7 prefer beta-tubulin. While TTLL1 has a preference for alpha-tubulin (Janke et al. 2005), TTLL1 knockout mice displayed decreased glutamylation on alpha- and beta-tubulin (Ikegami et al. 2010). The molecular determinants for specificity are poorly understood and specificity can differ between organisms, preventing an unambiguous classification of TTLLs by their alpha/beta preference. TTLL4, 5, and 7 have been described as initiases, adding a branched glutamic acid to the tubulin tail, while TTLL6, 11, and 13 were suggested to be elongases, adding poly-Glu chains of variable lengths to the branched glutamic acid (Garhnam & Roll-Mecak 2012). The specificity of mammalian TTLL2, 9, and TTLL12 are unknown.
TTLL3, 8, and 10 are glycylases that glycate rather than glutamylate tubulin (Ikegami et al. 2008, Ikegami & Setou 2009, Rogowski et al. 2009, Wloga et al. 2009), with TTLL3 and 8 serving as initiases, and TTLL10 serving as an elongase.
TTLL7, the most abundant glutamylase in neurons, modifies both alpha- and beta-tubulin tail peptides in isolation but shows a preference for beta-tubulin when presented with microtubules. TTLL7 catalyzes the initiatial glutamylation of Beta-tubulin glutamates at multiple internal positions in the Beta-tail, and also the addition of subsequent glutamates to existing branched glutamates (Mukai et al. 2009).",
"cellular_location": "cytosol",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"Q6ZT98-1",
"P0DPH7-1",
"P68363-1",
"Q14679-1",
"Q6PEY2-1",
"P68366-1",
"Q71U36-1",
"Q3SXZ7-1",
"Q6EMB2-1",
"Q8N841-1",
"Q9BWV7-1",
"A6NHL2-1",
"Q9NY65-1",
"Q9BQE3-1",
"Q9H853-1",
"A6NNM8-1",
"Q8NHH1-1",
"P0DPH8-1"
],
"evidence": [
{
"id": "R-HSA-8865774",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8865774"
}
]
}
],
"reaction_participants": [],
"reaction_enzymes": [
{
"uniprot_ac": "A2APC3",
"gene_name": "Ttll9",
"activity": [
{
"ec_number": "6.3.2.-",
"activity": "",
"evidence": [
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"id": "A2APC3",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/A2APC3"
}
]
}
]
},
{
"uniprot_ac": "A4Q9E8",
"gene_name": "Ttll6",
"activity": [
{
"ec_number": "6.3.2.-",
"activity": "",
"evidence": [
{
"id": "A4Q9E8",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/A4Q9E8"
}
]
}
]
},
{
"uniprot_ac": "A4Q9F0",
"gene_name": "Ttll7",
"activity": [
{
"ec_number": "6.3.2.-",
"activity": "",
"evidence": [
{
"id": "A4Q9F0",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/A4Q9F0"
}
]
}
]
},
{
"uniprot_ac": "A4Q9F4",
"gene_name": "Ttll11",
"activity": [
{
"ec_number": "6.3.2.-",
"activity": "",
"evidence": [
{
"id": "A4Q9F4",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/A4Q9F4"
}
]
}
]
},
{
"uniprot_ac": "A4Q9F6",
"gene_name": "Ttll13",
"activity": [
{
"ec_number": "6.3.2.-",
"activity": "",
"evidence": [
{
"id": "A4Q9F6",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/A4Q9F6"
}
]
}
]
},
{
"uniprot_ac": "A6NHL2",
"gene_name": "TUBAL3",
"activity": [
{
"ec_number": "3.6.5.-",
"activity": "",
"evidence": [
{
"id": "A6NHL2",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/A6NHL2"
}
]
}
]
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"uniprot_ac": "A6NNM8",
"gene_name": "TTLL13",
"activity": [
{
"ec_number": "6.3.2.-",
"activity": "",
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{
"id": "A6NNM8",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/A6NNM8"
}
]
}
]
},
{
"uniprot_ac": "O95922",
"gene_name": "TTLL1",
"activity": [
{
"ec_number": "6.3.2.-",
"activity": "",
"evidence": [
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"id": "O95922",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/O95922"
}
]
}
]
},
{
"uniprot_ac": "P0DPH7",
"gene_name": "TUBA3C",
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{
"ec_number": "3.6.5.-",
"activity": "",
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{
"id": "P0DPH7",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P0DPH7"
}
]
}
]
},
{
"uniprot_ac": "P0DPH8",
"gene_name": "TUBA3D",
"activity": [
{
"ec_number": "3.6.5.-",
"activity": "",
"evidence": [
{
"id": "P0DPH8",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P0DPH8"
}
]
}
]
},
{
"uniprot_ac": "P68363",
"gene_name": "TUBA1B",
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{
"ec_number": "3.6.5.-",
"activity": "",
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"id": "P68363",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P68363"
}
]
}
]
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{
"uniprot_ac": "P68366",
"gene_name": "TUBA4A",
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{
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"activity": "",
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"id": "P68366",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P68366"
}
]
}
]
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{
"uniprot_ac": "Q14679",
"gene_name": "TTLL4",
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{
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"activity": "",
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"id": "Q14679",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q14679"
}
]
}
]
},
{
"uniprot_ac": "Q3SXZ7",
"gene_name": "TTLL9",
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{
"ec_number": "6.3.2.-",
"activity": "",
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{
"id": "Q3SXZ7",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q3SXZ7"
}
]
}
]
},
{
"uniprot_ac": "Q5PPI9",
"gene_name": "Ttll1",
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{
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"activity": "",
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"id": "Q5PPI9",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q5PPI9"
}
]
}
]
},
{
"uniprot_ac": "Q641W7",
"gene_name": "Ttll9",
"activity": [
{
"ec_number": "6.3.2.-",
"activity": "",
"evidence": [
{
"id": "Q641W7",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q641W7"
}
]
}
]
},
{
"uniprot_ac": "Q6EMB2",
"gene_name": "TTLL5",
"activity": [
{
"ec_number": "6.3.2.-",
"activity": "",
"evidence": [
{
"id": "Q6EMB2",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q6EMB2"
}
]
}
]
},
{
"uniprot_ac": "Q6PEY2",
"gene_name": "TUBA3E",
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{
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"activity": "",
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"id": "Q6PEY2",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q6PEY2"
}
]
}
]
},
{
"uniprot_ac": "Q6ZT98",
"gene_name": "TTLL7",
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{
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"activity": "",
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"id": "Q6ZT98",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/Q6ZT98"
}
]
}
]
},
{
"uniprot_ac": "Q71U36",
"gene_name": "TUBA1A",
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{
"ec_number": "3.6.5.-",
"activity": "",
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"id": "Q71U36",
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}
]
}
]
},
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