{
"uniprot_canonical_ac": "O60306-1",
"uniprot_ac": "O60306",
"uniprot_id": "AQR_HUMAN",
"mass": {
"chemical_mass": 171295.0,
"monoisotopic_mass": 171295.0
},
"refseq": {
"ac": "NP_055506",
"name": "RNA helicase aquarius",
"summary": "",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_055506"
},
"gene_names": [
{
"name": "AQR",
"resource": "UniProtKB",
"type": "recommended",
"url": "https://www.uniprot.org/uniprot/O60306",
"id": "O60306"
},
{
"name": "AQR",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_055506",
"id": "NP_055506"
},
{
"name": "KIAA0560",
"resource": "UniProtKB",
"type": "synonym",
"url": "https://www.uniprot.org/uniprot/O60306",
"id": "O60306"
},
{
"name": "fSAP164; IBP160",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_055506",
"id": "NP_055506"
},
{
"name": "hCG_38784",
"resource": "UniProtKB",
"type": "synonym",
"url": "https://www.uniprot.org/uniprot/O60306",
"id": "O60306"
}
],
"protein_names": [
{
"name": "RNA helicase aquarius",
"resource": "UniProtKB",
"type": "recommended",
"url": "",
"id": "O60306"
},
{
"name": "3.6.4.13",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "O60306"
},
{
"name": "IBP160",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "O60306"
},
{
"name": "Intron-binding protein of 160 kDa",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "O60306"
},
{
"name": "RNA helicase aquarius",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_055506",
"id": "NP_055506"
},
{
"name": "functional spliceosome-associated protein 164; intron-binding protein aquarius; intron-binding protein of 160 kDa; aquarius homolog",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_055506",
"id": "NP_055506"
}
],
"function": [
{
"annotation": "Involved in pre-mRNA splicing as component of the spliceosome (PubMed:11991638, PubMed:25599396, PubMed:28502770, PubMed:28076346). Intron-binding spliceosomal protein required to link pre-mRNA splicing and snoRNP (small nucleolar ribonucleoprotein) biogenesis (PubMed:16949364). Plays a key role in position-dependent assembly of intron-encoded box C/D small snoRNP, splicing being required for snoRNP assembly (PubMed:16949364). May act by helping the folding of the snoRNA sequence. Binds to intron of pre-mRNAs in a sequence-independent manner, contacting the region between snoRNA and the branchpoint of introns (40 nucleotides upstream of the branchpoint) during the late stages of splicing (PubMed:16949364). Has ATP-dependent RNA helicase activity and can unwind double-stranded RNA molecules with a 3' overhang (in vitro) (PubMed:25599396).",
"evidence": [
{
"database": "UniProtKB",
"id": "O60306",
"url": "https://www.uniprot.org/uniprot/O60306#function"
},
{
"database": "PubMed",
"id": "16949364",
"url": "https://glygen.org/publication/PubMed/16949364"
},
{
"database": "PubMed",
"id": "28076346",
"url": "https://glygen.org/publication/PubMed/28076346"
},
{
"database": "PubMed",
"id": "28502770",
"url": "https://glygen.org/publication/PubMed/28502770"
},
{
"database": "PubMed",
"id": "11991638",
"url": "https://glygen.org/publication/PubMed/11991638"
},
{
"database": "PubMed",
"id": "25599396",
"url": "https://glygen.org/publication/PubMed/25599396"
}
]
},
{
"annotation": "Observational study of gene-disease association. (HuGE Navigator)",
"evidence": [
{
"database": "RefSeq",
"id": "NP_055506",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_055506"
},
{
"database": "PubMed",
"id": "20588308",
"url": "https://glygen.org/publication/PubMed/20588308"
}
]
},
{
"annotation": "Our study suggests that AQR is a novel type 2 diabetes-associated gene that regulates signaling pathways critical for glucose metabolism.",
"evidence": [
{
"database": "RefSeq",
"id": "NP_055506",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_055506"
},
{
"database": "PubMed",
"id": "29502958",
"url": "https://glygen.org/publication/PubMed/29502958"
}
]
}
],
"disease": [],
"snv": [
{
"evidence": [
{
"id": "O60306",
"database": "BioMuta",
"url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O60306"
}
],
"glycoeffect": [],
"start_pos": 1018,
"end_pos": 1018,
"subjects_tested": "0",
"subjects_positive": "0",
"frequency": "0.0",
"sequence_org": "R",
"sequence_mut": "Q",
"comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).",
"chr_id": "15",
"chr_pos": "34882614",
"ref_nt": "C",
"alt_nt": "T",
"minor_allelic_frequency": "",
"site_lbl": "R1018",
"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": ""
}
]
},
{
"disease_id": "DOID:9256",
"recommended_name": {
"id": "DOID:9256",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:9256",
"name": "colorectal cancer",
"description": "A large intestine cancer that is located_in the colon and/or located_in the rectum."
},
"synonyms": [
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colorectal cancer",
"description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma."
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "cancer of colorectum",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "cancer of large bowel",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "cancer of large intestine",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "cancer of the large bowel",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colon cancer, advanced, somatic",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colon cancer, somatic",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colorectal cancer",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colorectal cancer with chromosomal instability, somatic",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colorectal cancer, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colorectal cancer, somatic",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colorectum cancer",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant colorectal neoplasm",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant colorectal tumor",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant colorectal tumour",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant colorectum neoplasm",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant large bowel neoplasm",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant large bowel tumor",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant large bowel tumour",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant large intestine neoplasm",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant large intestine tumor",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant large intestine tumour",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant neoplasm of colorectum",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant neoplasm of large bowel",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant neoplasm of large intestine",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant neoplasm of the large bowel",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant neoplasm of the large intestine",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant tumor of large bowel",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant tumor of large intestine",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant tumor of the large bowel",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant tumor of the large intestine",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant tumour of large bowel",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant tumour of large intestine",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant tumour of the large bowel",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant tumour of the large intestine",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "CRC",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colon cancer",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "large intestine cancer",
"description": ""
},
{
"id": "MIM:114500",
"resource": "MIM",
"url": "https://www.omim.org/entry/114500",
"name": "Colorectal cancer",
"description": "Colorectal cancer"
}
]
},
{
"disease_id": "DOID:2394",
"recommended_name": {
"id": "DOID:2394",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:2394",
"name": "ovarian cancer",
"description": "A female reproductive organ cancer that is located_in the ovary."
},
"synonyms": [
{
"id": "DOID:2394",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:2394",
"name": "malignant Ovarian tumor",
"description": ""
},
{
"id": "DOID:2394",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:2394",
"name": "malignant tumour of ovary",
"description": ""
},
{
"id": "DOID:2394",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:2394",
"name": "ovarian neoplasm",
"description": ""
},
{
"id": "DOID:2394",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:2394",
"name": "ovary neoplasm",
"description": ""
},
{
"id": "DOID:2394",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:2394",
"name": "primary ovarian cancer",
"description": ""
},
{
"id": "DOID:2394",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:2394",
"name": "tumor of the Ovary",
"description": ""
},
{
"id": "MONDO:0011931",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011931",
"name": "ovarian cancer, susceptibility to, 1",
"description": ""
},
{
"id": "MONDO:0011931",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011931",
"name": "OVCAS1",
"description": ""
},
{
"id": "MONDO:0011931",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011931",
"name": "ovarian cancer, susceptibility to",
"description": ""
},
{
"id": "MONDO:0011931",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011931",
"name": "ovarian cancer, susceptibility to, 1",
"description": ""
},
{
"id": "MONDO:0008170",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008170",
"name": "ovarian cancer",
"description": "A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas."
},
{
"id": "MONDO:0008170",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008170",
"name": "ovarian neoplasm",
"description": ""
},
{
"id": "MONDO:0008170",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008170",
"name": "ovary neoplasm",
"description": ""
},
{
"id": "MONDO:0008170",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008170",
"name": "tumor of the ovary",
"description": ""
},
{
"id": "MONDO:0008170",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008170",
"name": "tumour of the ovary",
"description": ""
},
{
"id": "MONDO:0008170",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008170",
"name": "cancer of ovary",
"description": ""
},
{
"id": "MONDO:0008170",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008170",
"name": "cancer of the ovary",
"description": ""
},
{
"id": "MONDO:0008170",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008170",
"name": "malignant neoplasm of ovary",
"description": ""
},
{
"id": "MONDO:0008170",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008170",
"name": "malignant neoplasm of the ovary",
"description": ""
},
{
"id": "MONDO:0008170",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008170",
"name": "malignant ovarian neoplasm",
"description": ""
},
{
"id": "MONDO:0008170",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008170",
"name": "malignant ovarian tumor",
"description": ""
},
{
"id": "MONDO:0008170",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008170",
"name": "malignant ovarian tumour",
"description": ""
},
{
"id": "MONDO:0008170",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008170",
"name": "malignant ovary neoplasm",
"description": ""
},
{
"id": "MONDO:0008170",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008170",
"name": "malignant tumor of ovary",
"description": ""
},
{
"id": "MONDO:0008170",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008170",
"name": "malignant tumor of the ovary",
"description": ""
},
{
"id": "MONDO:0008170",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008170",
"name": "malignant tumour of ovary",
"description": ""
},
{
"id": "MONDO:0008170",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008170",
"name": "malignant tumour of the ovary",
"description": ""
},
{
"id": "MONDO:0008170",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008170",
"name": "ovarian cancer",
"description": ""
},
{
"id": "MONDO:0008170",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008170",
"name": "ovarian cancer, somatic",
"description": ""
},
{
"id": "MONDO:0008170",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008170",
"name": "ovarian malignant tumor",
"description": ""
},
{
"id": "MONDO:0008170",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008170",
"name": "ovarian malignant tumour",
"description": ""
},
{
"id": "MONDO:0008170",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008170",
"name": "ovary cancer",
"description": ""
},
{
"id": "MONDO:0008170",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008170",
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},
{
"start_pos": 829,
"end_pos": 829,
"sequence_org": "K",
"sequence_mut": "A",
"comment": "Decreased affinity for ATP and ADP. Loss of RNA helicase activity. Disrupts spliceosomal pre-mRNA splicing and leads to the accumulation of spliceosomal B complexes.",
"evidence": [
{
"database": "UniProtKB",
"id": "O60306",
"url": "https://www.uniprot.org/uniprot/O60306"
},
{
"database": "PubMed",
"id": "25599396",
"url": "https://glygen.org/publication/PubMed/25599396"
}
]
}
],
"expression_tissue": [
{
"tissue": {
"name": "Adult mammalian kidney",
"namespace": "UBERON",
"id": "0000082",
"url": "http://purl.obolibrary.org/obo/UBERON_0000082"
},
"score": "81.69",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000021776",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000021776"
}
]
},
{
"tissue": {
"name": "Oral cavity",
"namespace": "UBERON",
"id": "0000167",
"url": "http://purl.obolibrary.org/obo/UBERON_0000167"
},
"score": "85.03",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000021776",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000021776"
}
]
},
{
"tissue": {
"name": "Stomach",
"namespace": "UBERON",
"id": "0000945",
"url": "http://purl.obolibrary.org/obo/UBERON_0000945"
},
"score": "84.43",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000021776",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000021776"
}
]
},
{
"tissue": {
"name": "Uterus",
"namespace": "UBERON",
"id": "0000995",
"url": "http://purl.obolibrary.org/obo/UBERON_0000995"
},
"score": "74.78",
"present": "MEDIUM",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000021776",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000021776"
}
]
},
{
"tissue": {
"name": "Esophagus",
"namespace": "UBERON",
"id": "0001043",
"url": "http://purl.obolibrary.org/obo/UBERON_0001043"
},
"score": "87.44",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000021776",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000021776"
}
]
},
{
"tissue": {
"name": "Rectum",
"namespace": "UBERON",
"id": "0001052",
"url": "http://purl.obolibrary.org/obo/UBERON_0001052"
},
"score": "88.21",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000021776",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000021776"
}
]
},
{
"tissue": {
"name": "Colon",
"namespace": "UBERON",
"id": "0001155",
"url": "http://purl.obolibrary.org/obo/UBERON_0001155"
},
"score": "78.9",
"present": "MEDIUM",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000021776",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000021776"
}
]
},
{
"tissue": {
"name": "Urinary bladder",
"namespace": "UBERON",
"id": "0001255",
"url": "http://purl.obolibrary.org/obo/UBERON_0001255"
},
"score": "86.75",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000021776",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000021776"
}
]
},
{
"tissue": {
"name": "Thyroid gland",
"namespace": "UBERON",
"id": "0002046",
"url": "http://purl.obolibrary.org/obo/UBERON_0002046"
},
"score": "87.11",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000021776",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000021776"
}
]
},
{
"tissue": {
"name": "Lung",
"namespace": "UBERON",
"id": "0002048",
"url": "http://purl.obolibrary.org/obo/UBERON_0002048"
},
"score": "81.53",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000021776",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000021776"
}
]
},
{
"tissue": {
"name": "Liver",
"namespace": "UBERON",
"id": "0002107",
"url": "http://purl.obolibrary.org/obo/UBERON_0002107"
},
"score": "85.13",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000021776",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000021776"
}
]
},
{
"tissue": {
"name": "Prostate gland",
"namespace": "UBERON",
"id": "0002367",
"url": "http://purl.obolibrary.org/obo/UBERON_0002367"
},
"score": "87.2",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000021776",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000021776"
}
]
},
{
"tissue": {
"name": "Thoracic mammary gland",
"namespace": "UBERON",
"id": "0005200",
"url": "http://purl.obolibrary.org/obo/UBERON_0005200"
},
"score": "88.8",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000021776",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000021776"
}
]
}
],
"expression_disease": [
{
"significant": "No",
"trend": "down",
"name": "Prostate cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:10283",
"evidence": [
{
"database": "BioXpress",
"id": "O60306",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60306"
}
],
"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",
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]
}
]
},
{
"significant": "Yes",
"trend": "up",
"name": "Stomach cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:10534",
"evidence": [
{
"database": "BioXpress",
"id": "O60306",
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}
],
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{
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{
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},
{
"id": "MONDO:0001056",
"resource": "MONDO",
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"name": "gastric cancer",
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},
{
"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",
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},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumor of body of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumor of greater curve of stomach",
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},
{
"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",
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},
{
"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",
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},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumour of the stomach",
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},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "stomach cancer",
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},
{
"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",
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},
{
"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": "down",
"name": "Urinary bladder cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:11054",
"evidence": [
{
"database": "BioXpress",
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"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60306"
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],
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{
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},
"synonyms": [
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},
{
"id": "DOID:11054",
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"url": "http://disease-ontology.org/term/DOID:11054",
"name": "tumor of the bladder",
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},
{
"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",
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},
{
"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",
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},
{
"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",
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"name": "malignant neoplasm, bladder",
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},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm, urinary bladder",
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},
{
"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",
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},
{
"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",
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},
{
"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",
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},
{
"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",
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"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",
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},
{
"id": "MIM:109800",
"resource": "MIM",
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"name": "Bladder cancer",
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}
]
}
]
},
{
"significant": "No",
"trend": "down",
"name": "Head and neck cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:11934",
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{
"database": "BioXpress",
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],
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{
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},
{
"id": "DOID:11934",
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},
{
"id": "DOID:11934",
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},
{
"id": "DOID:11934",
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}
]
}
]
},
{
"significant": "No",
"trend": "up",
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"url": "http://disease-ontology.org/term/DOID:1324",
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{
"database": "BioXpress",
"id": "O60306",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60306"
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],
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{
"disease_id": "DOID:1324",
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"resource": "Disease Ontology",
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},
"synonyms": [
{
"id": "MONDO:0012159",
"resource": "MONDO",
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"description": ""
},
{
"id": "MONDO:0012159",
"resource": "MONDO",
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},
{
"id": "MONDO:0012159",
"resource": "MONDO",
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"name": "lung cancer susceptibility",
"description": ""
},
{
"id": "MONDO:0012159",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012159",
"name": "lung cancer susceptibility 1",
"description": ""
},
{
"id": "MONDO:0012942",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012942",
"name": "lung cancer susceptibility 3",
"description": ""
},
{
"id": "MONDO:0012942",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012942",
"name": "LNCR3",
"description": ""
},
{
"id": "MONDO:0012942",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012942",
"name": "lung cancer susceptibility 3",
"description": ""
},
{
"id": "MONDO:0012942",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012942",
"name": "adenocarcinoma of lung, susceptibility to",
"description": ""
},
{
"id": "MONDO:0012955",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012955",
"name": "lung cancer susceptibility 4",
"description": ""
},
{
"id": "MONDO:0012955",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012955",
"name": "LNCR4",
"description": ""
},
{
"id": "MONDO:0012955",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012955",
"name": "lung cancer susceptibility 4",
"description": ""
},
{
"id": "MONDO:0013631",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0013631",
"name": "lung cancer susceptibility 5",
"description": ""
},
{
"id": "MONDO:0013631",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0013631",
"name": "LNCR5",
"description": ""
},
{
"id": "MONDO:0013631",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0013631",
"name": "lung cancer susceptibility 5",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer",
"description": "A malignant neoplasm involving the lung."
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "adenocarcinoma of lung, somatic",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "cancer of lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, protection against, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, resistance to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, somatic",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant lung neoplasm",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant lung tumor",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant lung tumour",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant neoplasm of lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant neoplasm of the lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant tumor of lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant tumor of the lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant tumour of lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant tumour of the lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "nonsmall cell lung cancer, somatic",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "Nonsmall cell lung cancer",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "alveolar cell carcinoma",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, protection against",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung neoplasm",
"description": ""
},
{
"id": "MIM:211980",
"resource": "MIM",
"url": "https://www.omim.org/entry/211980",
"name": "Lung cancer",
"description": "Lung cancer"
}
]
}
]
},
{
"significant": "No",
"trend": "down",
"name": "Breast cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:1612",
"evidence": [
{
"database": "BioXpress",
"id": "O60306",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60306"
}
],
"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": "O60306",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60306"
}
],
"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": "down",
"name": "Kidney cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:263",
"evidence": [
{
"database": "BioXpress",
"id": "O60306",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60306"
}
],
"disease": [
{
"disease_id": "DOID:263",
"recommended_name": {
"id": "DOID:263",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:263",
"name": "kidney cancer",
"description": "A urinary system cancer that is located_in the kidney."
},
"synonyms": [
{
"id": "DOID:263",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:263",
"name": "malignant neoplasm of kidney except pelvis",
"description": ""
},
{
"id": "DOID:263",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:263",
"name": "malignant tumour of kidney",
"description": ""
},
{
"id": "DOID:263",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:263",
"name": "renal cancer",
"description": ""
}
]
}
]
},
{
"significant": "No",
"trend": "down",
"name": "Liver cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:3571",
"evidence": [
{
"database": "BioXpress",
"id": "O60306",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60306"
}
],
"disease": [
{
"disease_id": "DOID:3571",
"recommended_name": {
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "liver cancer",
"description": "A hepatobiliary system cancer that is located_in the liver."
},
"synonyms": [
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "Ca liver - primary",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "Resectable malignant neoplasm of Liver",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "hepatic cancer",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "hepatic neoplasm",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "malignant hepato-biliary neoplasm",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "malignant neoplasm of liver",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "malignant neoplasm of liver, primary",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "malignant tumor of liver",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "neoplasm of liver",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "non-resectable primary hepatic malignant neoplasm",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "primary liver cancer",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "primary malignant neoplasm of liver",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "resectable malignant neoplasm of the liver",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "malignant neoplasm of liver, not specified as primary or secondary",
"description": ""
}
]
}
]
},
{
"significant": "No",
"trend": "up",
"name": "Uterine cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:363",
"evidence": [
{
"database": "BioXpress",
"id": "O60306",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60306"
}
],
"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": "up",
"name": "Esophageal cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:5041",
"evidence": [
{
"database": "BioXpress",
"id": "O60306",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60306"
}
],
"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",
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"categories": [
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]
},
{
"id": "IPR032174",
"url": "https://www.ebi.ac.uk/interpro/entry/IPR032174",
"database": "InterPro",
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},
{
"id": "IPR041677",
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"categories": [
"Protein Classification"
]
},
{
"id": "IPR041679",
"url": "https://www.ebi.ac.uk/interpro/entry/IPR041679",
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"categories": [
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]
},
{
"id": "IPR045055",
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"database": "InterPro",
"categories": [
"Protein Classification"
]
},
{
"id": "IPR047187",
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"Protein Classification"
]
},
{
"id": "IPR048966",
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"database": "InterPro",
"categories": [
"Protein Classification"
]
},
{
"id": "IPR048967",
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]
},
{
"id": "hsa:9716",
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{
"id": "610548",
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{
"id": "NX_O60306",
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{
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]
},
{
"id": "O60306",
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},
{
"id": "AQGCYRH",
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]
},
{
"id": "7041at2759",
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]
},
{
"id": "PTHR10887",
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"database": "PANTHER",
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]
},
{
"id": "PTHR10887:SF5",
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"database": "PANTHER",
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"Protein Classification"
]
},
{
"id": "4PJ3",
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]
},
{
"id": "5MQF",
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]
},
{
"id": "5XJC",
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{
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]
},
{
"id": "5Z56",
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]
},
{
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]
},
{
"id": "6FF7",
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},
{
"id": "6ICZ",
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]
},
{
"id": "6ID0",
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]
},
{
"id": "6ID1",
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]
},
{
"id": "6QDV",
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{
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]
},
{
"id": "7ABI",
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]
},
{
"id": "7W59",
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]
},
{
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},
{
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},
{
"id": "8CH6",
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},
{
"id": "PF13086",
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]
},
{
"id": "PF13087",
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]
},
{
"id": "PF16399",
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]
},
{
"id": "PF21143",
"url": "http://pfam.xfam.org/family/PF21143",
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"Protein Classification"
]
},
{
"id": "PF21144",
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]
},
{
"id": "O60306",
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]
},
{
"id": "PR_O60306",
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"database": "PRO",
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]
},
{
"id": "R-HSA-6781823",
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"Protein Classification"
]
},
{
"id": "R-HSA-6781827",
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"database": "Reactome",
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]
},
{
"id": "R-HSA-6782135",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6782135",
"database": "Reactome",
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]
},
{
"id": "R-HSA-6782210",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6782210",
"database": "Reactome",
"categories": [
"Protein Classification"
]
},
{
"id": "R-HSA-72163",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163",
"database": "Reactome",
"categories": [
"Protein Classification"
]
},
{
"id": "NP_055506",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_055506",
"database": "RefSeq",
"categories": [
"Protein"
]
},
{
"id": "13065",
"url": "https://www.rhea-db.org/rhea/13065",
"database": "Rhea",
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]
},
{
"id": "H0YH15",
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]
},
{
"id": "H0YH15-1",
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]
},
{
"id": "H0YLN9",
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"database": "UniProtKB",
"categories": [
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]
},
{
"id": "H0YLN9-1",
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]
},
{
"id": "O60306",
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"database": "UniProtKB",
"categories": [
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]
},
{
"id": "O60306-1",
"url": "https://www.uniprot.org/uniprot/O60306-1",
"database": "UniProtKB",
"categories": [
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]
}
],
"sequence": {
"sequence": "MAAPAQPKKIVAPTVSQINAEFVTQLACKYWAPHIKKKSPFDIKVIEDIYEKEIVKSRFAIRKIMLLEFSQYLENYLWMNYSPEVSSKAYLMSICCMVNEKFRENVPAWEIFKKKPDHFPFFFKHILKAALAETDGEFSLHEQTVLLLFLDHCFNSLEVDLIRSQVQQLISLPMWMGLQLARLELELKKTPKLRKFWNLIKKNDEKMDPEAREQAYQERRFLSQLIQKFISVLKSVPLSEPVTMDKVHYCERFIELMIDLEALLPTRRWFNTILDDSHLLVHCYLSNLVRREEDGHLFSQLLDMLKFYTGFEINDQTGNALTENEMTTIHYDRITSLQRAAFAHFPELYDFALSNVAEVDTRESLVKFFGPLSSNTLHQVASYLCLLPTLPKNEDTTFDKEFLLELLVSRHERRISQIQQLNQMPLYPTEKIIWDENIVPTEYYSGEGCLALPKLNLQFLTLHDYLLRNFNLFRLESTYEIRQDIEDSVSRMKPWQSEYGGVVFGGWARMAQPIVAFTVVEVAKPNIGENWPTRVRADVTINLNVRDHIKDEWEGLRKHDVCFLITVRPTKPYGTKFDRRRPFIEQVGLVYVRGCEIQGMLDDKGRVIEDGPEPRPNLRGESRTFRVFLDPNQYQQDMTNTIQNGAEDVYETFNIIMRRKPKENNFKAVLETIRNLMNTDCVVPDWLHDIILGYGDPSSAHYSKMPNQIATLDFNDTFLSIEHLKASFPGHNVKVTVEDPALQIPPFRITFPVRSGKGKKRKDADVEDEDTEEAKTLIVEPHVIPNRGPYPYNQPKRNTIQFTHTQIEAIRAGMQPGLTMVVGPPGTGKTDVAVQIISNIYHNFPEQRTLIVTHSNQALNQLFEKIMALDIDERHLLRLGHGEEELETEKDFSRYGRVNYVLARRIELLEEVKRLQKSLGVPGDASYTCETAGYFFLYQVMSRWEEYISKVKNKGSTLPDVTEVSTFFPFHEYFANAPQPIFKGRSYEEDMEIAEGCFRHIKKIFTQLEEFRASELLRSGLDRSKYLLVKEAKIIAMTCTHAALKRHDLVKLGFKYDNILMEEAAQILEIETFIPLLLQNPQDGFSRLKRWIMIGDHHQLPPVIKNMAFQKYSNMEQSLFTRFVRVGVPTVDLDAQGRARASLCNLYNWRYKNLGNLPHVQLLPEFSTANAGLLYDFQLINVEDFQGVGESEPNPYFYQNLGEAEYVVALFMYMCLLGYPADKISILTTYNGQKHLIRDIINRRCGNNPLIGRPNKVTTVDRFQGQQNDYILLSLVRTRAVGHLRDVRRLVVAMSRARLGLYIFARVSLFQNCFELTPAFSQLTARPLHLHIIPTEPFPTTRKNGERPSHEVQIIKNMPQMANFVYNMYMHLIQTTHHYHQTLLQLPPAMVEEGEEVQNQETELETEEEAMTVQADIIPSPTDTSCRQETPAFQTDTTPSETGATSTPEAIPALSETTPTVVGAVSAPAEANTPQDATSAPEETK",
"length": 1485,
"header": "sp|O60306-1|AQR_HUMAN Isoform 1 of RNA helicase aquarius OS=Homo sapiens OX=9606 GN=AQR PE=1 SV=4 CANONICAL=O60306-1"
},
"isoforms": [
{
"isoform_ac": "H0YH15-1",
"url": "",
"sequence": {
"sequence": "MAAPAQPKKIVAPTVSQINAEFVTQLACKYWAPHIKKKSPFDIKVIEDIYEKEIVKSRFAIRKIMLLEFSQYLENYLWMNYSPEVSSKAYLMSICCMVNEKFRENVPAWEIFKKKPDHFPFFFKHILKAALAETDGEFSLHEQTVLLLFLDHCFNSLEVDLIRSQVQQLISLPMWMGLQLARLELELKKTPKLRKFWNLIKKNDEKMDPEAREQAYQERRFLSQLIQKFISVLKSVPLSEPVTMDKVHYCERFIELMIDLEALLPTRRWFNTILDDSHLLVHCYLSNLVRREEDGHLFSQLLDMLKFYTGFEINDQTGNALTENEMTTIHYDRITSLQRAAFAHFPELYDFALSNVAEVDTRESLVKFFGPLSSNTLHQVASYLCLLPTLPKNEDTTFDKEFLLELLVSRHERRISQIQQLNQMPLYPTEKIIWDENIVPTEYYSGEGCLALPKLNLQFLTLHDYLLRNFNLFRLESTYEIRQDIEDSVSRMKPWQSEYGGVVFGGWARMAQPIVAFTVVEVAKPNIGENWPTRVRADVTINLNVRDHIKDEWEGLRKHDVCFLITVRPTKPYGTKFDRRRPFIEQVGLVYVRGCEIQGMLDDKGRVIEDGMVTYIFERDLNPDPILEENQGHLECFWIQTSINKI",
"length": 646,
"header": "tr|H0YH15-1|H0YH15_HUMAN Computationally mapped isoform of Aquarius homolog (Mouse), isoform CRA_a OS=Homo sapiens OX=9606 GN=AQR PE=1 SV=1 CANONICAL=O60306-1"
},
"locus": {
"chromosome": "15",
"start_pos": 34969613,
"end_pos": 34904425,
"strand": "+",
"evidence": [
{
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"id": "ENST00000543879.6",
"url": "https://www.ensembl.org/id/ENST00000543879.6"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000445700.2",
"url": "https://www.ensembl.org/id/ENSP00000445700.2"
}
]
}
},
{
"isoform_ac": "H0YLN9-1",
"url": "",
"sequence": {
"sequence": "MPTGLHACVVPSDILCPPVPSRALLRNRLSLNDLSSSSTMARIWDLLFILFTLQLACKYWAPHIKKKSPFDIKVIEDIYEKEIVKSRFAIRKIMLLEFSQYLENYLWMNYSPEVSSKAYLMSICCMVNEKFRENVPAWEIFKKKPDHFPFFFKHILKAALAETDGEFSLHEQTVLLLFLD",
"length": 180,
"header": "tr|H0YLN9-1|H0YLN9_HUMAN Computationally mapped isoform of Aquarius intron-binding spliceosomal factor OS=Homo sapiens OX=9606 GN=AQR PE=1 SV=1 CANONICAL=O60306-1"
},
"locus": {
"chromosome": "15",
"start_pos": 34964452,
"end_pos": 34944306,
"strand": "+",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000560117.1",
"url": "https://www.ensembl.org/id/ENST00000560117.1"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000453278.1",
"url": "https://www.ensembl.org/id/ENSP00000453278.1"
}
]
}
},
{
"isoform_ac": "O60306-1",
"url": "",
"sequence": {
"sequence": "MAAPAQPKKIVAPTVSQINAEFVTQLACKYWAPHIKKKSPFDIKVIEDIYEKEIVKSRFAIRKIMLLEFSQYLENYLWMNYSPEVSSKAYLMSICCMVNEKFRENVPAWEIFKKKPDHFPFFFKHILKAALAETDGEFSLHEQTVLLLFLDHCFNSLEVDLIRSQVQQLISLPMWMGLQLARLELELKKTPKLRKFWNLIKKNDEKMDPEAREQAYQERRFLSQLIQKFISVLKSVPLSEPVTMDKVHYCERFIELMIDLEALLPTRRWFNTILDDSHLLVHCYLSNLVRREEDGHLFSQLLDMLKFYTGFEINDQTGNALTENEMTTIHYDRITSLQRAAFAHFPELYDFALSNVAEVDTRESLVKFFGPLSSNTLHQVASYLCLLPTLPKNEDTTFDKEFLLELLVSRHERRISQIQQLNQMPLYPTEKIIWDENIVPTEYYSGEGCLALPKLNLQFLTLHDYLLRNFNLFRLESTYEIRQDIEDSVSRMKPWQSEYGGVVFGGWARMAQPIVAFTVVEVAKPNIGENWPTRVRADVTINLNVRDHIKDEWEGLRKHDVCFLITVRPTKPYGTKFDRRRPFIEQVGLVYVRGCEIQGMLDDKGRVIEDGPEPRPNLRGESRTFRVFLDPNQYQQDMTNTIQNGAEDVYETFNIIMRRKPKENNFKAVLETIRNLMNTDCVVPDWLHDIILGYGDPSSAHYSKMPNQIATLDFNDTFLSIEHLKASFPGHNVKVTVEDPALQIPPFRITFPVRSGKGKKRKDADVEDEDTEEAKTLIVEPHVIPNRGPYPYNQPKRNTIQFTHTQIEAIRAGMQPGLTMVVGPPGTGKTDVAVQIISNIYHNFPEQRTLIVTHSNQALNQLFEKIMALDIDERHLLRLGHGEEELETEKDFSRYGRVNYVLARRIELLEEVKRLQKSLGVPGDASYTCETAGYFFLYQVMSRWEEYISKVKNKGSTLPDVTEVSTFFPFHEYFANAPQPIFKGRSYEEDMEIAEGCFRHIKKIFTQLEEFRASELLRSGLDRSKYLLVKEAKIIAMTCTHAALKRHDLVKLGFKYDNILMEEAAQILEIETFIPLLLQNPQDGFSRLKRWIMIGDHHQLPPVIKNMAFQKYSNMEQSLFTRFVRVGVPTVDLDAQGRARASLCNLYNWRYKNLGNLPHVQLLPEFSTANAGLLYDFQLINVEDFQGVGESEPNPYFYQNLGEAEYVVALFMYMCLLGYPADKISILTTYNGQKHLIRDIINRRCGNNPLIGRPNKVTTVDRFQGQQNDYILLSLVRTRAVGHLRDVRRLVVAMSRARLGLYIFARVSLFQNCFELTPAFSQLTARPLHLHIIPTEPFPTTRKNGERPSHEVQIIKNMPQMANFVYNMYMHLIQTTHHYHQTLLQLPPAMVEEGEEVQNQETELETEEEAMTVQADIIPSPTDTSCRQETPAFQTDTTPSETGATSTPEAIPALSETTPTVVGAVSAPAEANTPQDATSAPEETK",
"length": 1485,
"header": "sp|O60306-1|AQR_HUMAN Isoform 1 of RNA helicase aquarius OS=Homo sapiens OX=9606 GN=AQR PE=1 SV=4 CANONICAL=O60306-1"
},
"locus": {
"chromosome": "15",
"start_pos": 34969613,
"end_pos": 34856795,
"strand": "+",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000156471.10",
"url": "https://www.ensembl.org/id/ENST00000156471.10"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000156471.5",
"url": "https://www.ensembl.org/id/ENSP00000156471.5"
}
]
}
}
],
"glycosylation": [
{
"glytoucan_ac": "G49108TO",
"type": "O-linked",
"subtype": "O-GlcNAcylation",
"site_category": "reported_with_glycan",
"site_seq": "S",
"relation": "attached",
"comment": "O-GlcNAcylation",
"start_pos": 235,
"start_aa": "Ser",
"end_pos": 235,
"end_aa": "Ser",
"residue": "Ser",
"site_lbl": "Ser235",
"evidence": [
{
"id": "O60306",
"database": "O-GlcNAc Database",
"url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60306"
},
{
"id": "23301498",
"database": "PubMed",
"url": "https://glygen.org/publication/PubMed/23301498"
},
{
"id": "34019948",
"database": "PubMed",
"url": "https://glygen.org/publication/PubMed/34019948"
},
{
"id": "29351928",
"database": "PubMed",
"url": "https://glygen.org/publication/PubMed/29351928"
},
{
"id": "O60306",
"database": "O-GlcNAc Atlas",
"url": "https://oglcnac.org/atlas/detail/O60306"
}
]
},
{
"glytoucan_ac": "G49108TO",
"type": "O-linked",
"subtype": "O-GlcNAcylation",
"site_category": "reported_with_glycan",
"site_seq": "T",
"relation": "attached",
"comment": "O-GlcNAcylation",
"start_pos": 243,
"start_aa": "Thr",
"end_pos": 243,
"end_aa": "Thr",
"residue": "Thr",
"site_lbl": "Thr243",
"evidence": [
{
"id": "O60306",
"database": "O-GlcNAc Database",
"url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60306"
},
{
"id": "23301498",
"database": "PubMed",
"url": "https://glygen.org/publication/PubMed/23301498"
},
{
"id": "34019948",
"database": "PubMed",
"url": "https://glygen.org/publication/PubMed/34019948"
},
{
"id": "29351928",
"database": "PubMed",
"url": "https://glygen.org/publication/PubMed/29351928"
},
{
"id": "O60306",
"database": "O-GlcNAc Atlas",
"url": "https://oglcnac.org/atlas/detail/O60306"
}
]
}
],
"phosphorylation": [
{
"start_pos": 1225,
"end_pos": 1225,
"kinase_uniprot_canonical_ac": "",
"kinase_gene_name": "",
"residue": "Ser",
"comment": "",
"evidence": [
{
"database": "iPTMnet",
"id": "O60306",
"url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60306"
},
{
"database": "PubMed",
"id": "32387766",
"url": ""
}
],
"site_lbl": "Ser1225"
},
{
"start_pos": 243,
"end_pos": 243,
"kinase_uniprot_canonical_ac": "",
"kinase_gene_name": "",
"residue": "Thr",
"comment": "",
"evidence": [
{
"database": "iPTMnet",
"id": "O60306",
"url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60306"
},
{
"database": "PubMed",
"id": "20068231",
"url": "https://glygen.org/publication/PubMed/20068231"
}
],
"site_lbl": "Thr243"
},
{
"start_pos": 672,
"end_pos": 672,
"kinase_uniprot_canonical_ac": "",
"kinase_gene_name": "",
"residue": "Thr",
"comment": "",
"evidence": [
{
"database": "iPTMnet",
"id": "O60306",
"url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60306"
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},
{
"name": "single-stranded RNA binding",
"id": "GO:0003727",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003727",
"evidence": [
{
"database": "UniProtKB",
"id": "O60306",
"url": "https://www.uniprot.org/uniprot/O60306"
}
],
"pmid": ""
},
{
"name": "3'-5' RNA helicase activity",
"id": "GO:0034458",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034458",
"evidence": [
{
"database": "UniProtKB",
"id": "O60306",
"url": "https://www.uniprot.org/uniprot/O60306"
}
],
"pmid": ""
}
]
},
{
"name": "Cellular Component",
"total": 5,
"go_terms": [
{
"name": "nucleus",
"id": "GO:0005634",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634",
"evidence": [
{
"database": "UniProtKB",
"id": "O60306",
"url": "https://www.uniprot.org/uniprot/O60306"
}
],
"pmid": ""
},
{
"name": "nucleoplasm",
"id": "GO:0005654",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654",
"evidence": [
{
"database": "UniProtKB",
"id": "O60306",
"url": "https://www.uniprot.org/uniprot/O60306"
}
],
"pmid": ""
},
{
"name": "membrane",
"id": "GO:0016020",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020",
"evidence": [
{
"database": "UniProtKB",
"id": "O60306",
"url": "https://www.uniprot.org/uniprot/O60306"
}
],
"pmid": ""
},
{
"name": "catalytic step 2 spliceosome",
"id": "GO:0071013",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071013",
"evidence": [
{
"database": "UniProtKB",
"id": "O60306",
"url": "https://www.uniprot.org/uniprot/O60306"
}
],
"pmid": ""
},
{
"name": "U2-type catalytic step 2 spliceosome",
"id": "GO:0071007",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071007",
"evidence": [
{
"database": "UniProtKB",
"id": "O60306",
"url": "https://www.uniprot.org/uniprot/O60306"
}
],
"pmid": ""
}
]
},
{
"name": "Biological Process",
"total": 1,
"go_terms": [
{
"name": "mRNA splicing, via spliceosome",
"id": "GO:0000398",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000398",
"evidence": [
{
"database": "UniProtKB",
"id": "O60306",
"url": "https://www.uniprot.org/uniprot/O60306"
}
],
"pmid": ""
}
]
}
]
},
"pro_annotation": [],
"site_annotation": [
{
"start_pos": 715,
"end_pos": 717,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 80,
"end_pos": 82,
"annotation": "n_glycosylation_sequon"
}
],
"ptm_annotation": [],
"interactions": [],
"reactions": [
{
"id": "13065",
"name": "",
"equation": "ATP + H2O = ADP + H(+) + phosphate",
"summary": "",
"cellular_location": "",
"input_participant_list": [],
"output_participant_list": [],
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"P10981-1",
"P20480-1",
"Q9VQR3-1",
"P53501-1",
"P02572-1",
"P83967-1",
"P02574-1",
"Q9VIZ3-1",
"Q9VL76-1",
"Q9VDA0-1",
"Q9W4W2-1"
],
"evidence": [
{
"id": "13065",
"database": "Rhea",
"url": "https://www.rhea-db.org/rhea/13065"
}
]
},
{
"id": "R-HSA-6782004",
"name": "Assembly of the pre-incision complex in TC-NER",
"equation": "",
"summary": "In addition to ERCC6 (CSB) and the ERCC8 (CSA) ubiquitin ligase complex, several other proteins and protein complexes are loaded onto stalled RNA polymerase II (RNA Pol II) at DNA damage sites to form a pre-incision complex that operates in the transcription-coupled nucleotide excision repair (TC-NER).
XPA, which also participates in global genome nucleotide excision repair (GG-NER), is necessary for the progression of TC-NER (Furuta et al. 2002). XPA interacts with the GTF2H5 subunit of the TFIIH complex (Ziani et al. 2014). In GG-NER, XPA loading is accompanied by the release of the CAK subcomplex from TFIIH (Coin et al. 2008), but in TC-NER the CAK complex remains bound to the TC-NER site (Mourgues et al. 2013).
XAB2 protein exists in the complex with five other proteins, AQR, PRPF19, ZNF830, ISY1 and PPIE. The XAB2 complex, which is also involved in pre-mRNA splicing, loads onto stalled RNA Pol II site (Kuraoka et al. 2008) through the interaction of XAB2 with RNA Pol II, ERCC6, ERCC8 and XPA (Nakatsu et al. 2000). The AQR (aquarius) subunit of the XAB2 complex is an RNA-DNA helicase that processes R-loops. An R-loop is a structure formed by hybridization of a nascent mRNA with a DNA template. In the absence of AQR, TC-NER machinery processes R-loops into double strand breaks (Sollier et al. 2014).
TCEA1 (TFIIS) is a transcription elongation factor that facilitates partial digestion of the 3' protruding end of the nascent transcript by a stalled RNA Pol II, which is generated during the reverse translocation of RNA Pol II from the damage site, and allows the resumption of RNA synthesis once the DNA damage is removed (Donahue et al. 1994).
HMGN1, a non-histone high mobility group N nucleosome-binding protein, facilitates TC-NER probably by increasing accessibility of damaged DNA to repair machinery. HMGN1 is recruited at RNA Pol II/TC-NER sites in an ERCC8 (CSA)-dependent manner (Birger et al. 2003, Fousteri et al. 2006).
Histone acetyltransferase p300 (EP300) is recruited to stalled RNA Pol II/TC-NER complexes in an ERCC6-dependent manner, and probably acts to facilitate access of repair proteins to damaged DNA via chromatin remodeling (Fousteri et al. 2006).
UVSSA protein forms a complex with ubiquitin protease USP7. It is recruited to TC-NER sites via interaction with ubiquitinated RNA Pol II and ERCC6. The UVSSA:USP7 complex stabilizes ERCC6, preventing its proteasome-mediated degradation prior to TC-NER completion, and may de-ubiquitinate RNA Pol II after TC-NER is completed, to allow resumption of RNA synthesis (Nakazawa et al. 2012, Schwertman et al. 2012, Zhang et al. 2012, Fei and Chen 2012).",
"cellular_location": "nucleoplasm",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P62877-1",
"P18074-1",
"Q03468-1",
"Q09472-1",
"P24928-1",
"O60306-1",
"Q9UNP9-1",
"Q93009-1",
"P30876-1",
"P50613-1",
"P19447-1",
"Q9UMS4-1"
],
"evidence": [
{
"id": "R-HSA-6782004",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6782004"
}
]
},
{
"id": "R-HSA-6782069",
"name": "UVSSA:USP7 deubiquitinates ERCC6",
"equation": "",
"summary": "UVSSA stabilizes ERCC6 (CSB) during transcription-coupled nucleotide excision repair (TC-NER) by targeting ubiquitin protease USP7 to ubiquitinated ERCC6, thus preventing proteasome-mediated degradation of ERCC6. Mutations in UVSSA cause UV-sensitive syndrome (Nakazawa et al. 2012, Schwertman et al. 2012, Zhang et al. 2012, Fei and Chen 2012).",
"cellular_location": "nucleoplasm",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P62877-1",
"P18074-1",
"Q03468-1",
"Q09472-1",
"P24928-1",
"O60306-1",
"Q9UNP9-1",
"Q93009-1",
"P30876-1",
"P50613-1",
"P19447-1",
"Q9UMS4-1"
],
"evidence": [
{
"id": "R-HSA-6782069",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6782069"
}
]
},
{
"id": "R-HSA-6782131",
"name": "ERCC2-facilitated RNA Pol II backtracking in TC-NER",
"equation": "",
"summary": "The DNA helicase XPD (ERCC2), which is part of the TFIIH complex, unwinds the distorted DNA duplex around the lesion to form an open bubble structure that exposes the damaged site. The 5'->3 directed helicase activity of ERCC2 (Kuper et al. 2012) together with the ATPase activity of the 3'->5' directed DNA helicase ERCC3 contribute to dsDNA unwinding during nucleotide excision repair (NER) (Coin et al. 2007). In transcription-coupled NER (TC-NER), the ATPase activity of TFIIH complex, related to its helicase activity, is in addition necessary for the incision of the damaged DNA strand. While the endonuclease ERCC5 (XPG) can bind stalled RNA polymerase II (RNA Pol II) at a transcription bubble, it cannot perform incision in the absence of the TFIIH ATPase activity (Sarker et al. 2005). The helicase activity of the TFIIH complex may allow backtracking of the RNA Pol II, similar to the UvrD helicase involved in TC-NER in E.coli. Pulling RNA Pol II backwards from the DNA damage site would resolve steric hindrance of the RNA Pol II complex with the TC-NER endonucleases (Epshtein et al. 2014). RNA Pol II backtracking is accompanied by a partial digestion of the nascent 3' protruding mRNA via the 3'->5' directed exonuclease activity of RNA Pol II, which is stimulated by TCEA1 (TFIIS) (Donahue et al. 1994). Partial transcript digestion and RNA Pol II backtracking move the transcription bubble away from the open bubble that contains the DNA damage site (reviewed by Hanawalt and Spivak 2008).",
"cellular_location": "nucleoplasm",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P62877-1",
"P18074-1",
"Q03468-1",
"Q09472-1",
"P24928-1",
"O60306-1",
"Q9UNP9-1",
"Q93009-1",
"P30876-1",
"P50613-1",
"P19447-1",
"Q9UMS4-1"
],
"evidence": [
{
"id": "R-HSA-6782131",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6782131"
}
]
},
{
"id": "R-HSA-6782138",
"name": "ERCC5 and RPA bind TC-NER site",
"equation": "",
"summary": "It has been suggested that, similar to the UvrD helicase involved in TC-NER in E.coli, the DNA helicase activity of TFIIH complex may facilitate damage-stalled RNA polymerase II (RNA Pol II) backtracking (Epshtein et al. 2014). RNA Pol II backtracking, together with the cleavage of the 3' protruding end of nascent mRNA, might promote the movement of the transcription bubble away from the transcription-coupled nucleotide excision repair (TC-NER) site, while an open bubble is created (Sarker et al. 2005, Hanawalt and Spivak 2008). Once the open bubble is generated, the RPA heterotrimer composed of RPA1, RPA2 and RPA3 coats the undamaged single strand DNA (ssDNA) (de Laat et al. 1998), thereby protecting it from endonucleases. The interaction of RPA with XPA facilitates RPA recruitment to the nucleotide excision repair (NER) site (He et al. 1995, Ikegami et al. 1998). A DNA endonuclease ERCC5 (XPG) is recruited to the TC-NER site through its interaction with the stalled RNA Pol II (Sarker et al. 2005), the TFIIH complex (Dunand-Sauthier et al. 2005, Zotter et al. 2006, Ito et al. 2007) and the RPA heterotrimer (de Laat et al. 1998).",
"cellular_location": "nucleoplasm",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P62877-1",
"P18074-1",
"P28715-1",
"Q03468-1",
"Q09472-1",
"P24928-1",
"O60306-1",
"Q9UNP9-1",
"Q93009-1",
"P30876-1",
"P50613-1",
"P19447-1",
"Q9UMS4-1"
],
"evidence": [
{
"id": "R-HSA-6782138",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6782138"
}
]
},
{
"id": "R-HSA-6782141",
"name": "Binding of ERCC1:ERCC4 (ERCC1:XPF) to pre-incision complex in TC-NER",
"equation": "",
"summary": "ERCC1:ERCC4 (ERCC1:XPF) DNA endonuclease complex binds to the pre-incision complex at the transcription-coupled nucleotide excision repair (TC-NER) site to form the incision complex. Binding of ERCC5 (XPG) to the NER site precedes the recruitment of ERCC1:ERCC4 (Riedl et al. 2003). ERCC1 directly interacts with the XPA, and this interaction is necessary for the loading of ERCC1:ERCC4 to the open bubble structure in damaged dsDNA and the progression of TC-NER (Tsodikov et al. 2007, Orelli et al. 2010).",
"cellular_location": "nucleoplasm",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"Q92889-1",
"P62877-1",
"P18074-1",
"P28715-1",
"Q03468-1",
"Q09472-1",
"P24928-1",
"O60306-1",
"Q9UNP9-1",
"Q93009-1",
"P30876-1",
"P50613-1",
"P19447-1",
"Q9UMS4-1"
],
"evidence": [
{
"id": "R-HSA-6782141",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6782141"
}
]
},
{
"id": "R-HSA-6782204",
"name": "5' incision of damaged DNA strand by ERCC1:ERCC4 in TC-NER",
"equation": "",
"summary": "In transcription-coupled nucleotide excision repair (TC-NER), just like in global genome nucleotide excision repair (GG-NER), the cleavage of the damaged strand of DNA 5' to the site of damage occurs at the junction of single-stranded DNA and double-stranded DNA that is formed when the DNA duplex is unwound. The 5' incision is carried out by ERCC1:XPF (ERCC1:ERCC4) complex and precedes the 3' incision by ERCC5 (XPG) (Staresincic et al. 2009).",
"cellular_location": "nucleoplasm",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"Q92889-1",
"P62877-1",
"P18074-1",
"P28715-1",
"Q03468-1",
"Q09472-1",
"P24928-1",
"O60306-1",
"Q9UNP9-1",
"Q93009-1",
"P30876-1",
"P50613-1",
"P19447-1",
"Q9UMS4-1"
],
"evidence": [
{
"id": "R-HSA-6782204",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6782204"
}
]
},
{
"id": "R-HSA-6782208",
"name": "Repair DNA synthesis of ~27-30 bases long patch by POLD, POLE or POLK in TC-NER",
"equation": "",
"summary": "In transcription-coupled nucleotide excision repair (TC-NER), as well as in global genome nucleotide excision repair (GG-NER), the DNA synthesis complex (NER post-incision complex) consisting of PCNA, RPA, RFC and polymerase delta (POLD) or epsilon (POLE) complexes performs DNA repair synthesis after the damaged DNA strand is incised 5' to the lesion by the endonuclease complex ERCC1:ERCC4 (ERCC1:XPF) and 3' to the lesion by the endonuclease XPG (ERCC5). Depending on damage-induced PCNA monoubiquitination, DNA polymerase kappa (POLK) may also be involved in gap-filling DNA synthesis during nucleotide excision repair (NER) (Balajee et al. 1998, Staresincic et al. 2009, Ogi et al. 2010, Overmeer et al. 2011).",
"cellular_location": "nucleoplasm",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P62877-1",
"P28340-1",
"Q07864-1",
"P18074-1",
"Q03468-1",
"Q9UBT6-1",
"Q09472-1",
"P24928-1",
"O60306-1",
"Q9UNP9-1",
"Q93009-1",
"P30876-1",
"P50613-1",
"P19447-1",
"Q9UMS4-1"
],
"evidence": [
{
"id": "R-HSA-6782208",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6782208"
}
]
},
{
"id": "R-HSA-6782211",
"name": "DNA polymerases delta, epsilon or kappa bind the TC-NER site",
"equation": "",
"summary": "The DNA repair synthesis complex, consisting of PCNA, RFC, RPA and polymerase delta (POLD) or epsilon (POLE) complexes, or polymerase kappa (POLK), is formed at the transcription coupled nucleotide excision repair (TC-NER) site, as well as the global genome nucleotide excision repair (GG-NER) site, following the incision of the damaged DNA strand 5' to the lesion by the ERCC1:ERCC4 (ERCC1:XPF) complex. 3' incision by XPG (ERCC5) is not required for the loading of the DNA polymerases and may not be required for the initiation of NER-mediated DNA synthesis (Staresincic et al. 2009). XPG and RPA promote the assembly of the DNA synthesis complex at the NER site (Mocquet et al. 2008).",
"cellular_location": "nucleoplasm",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"Q92889-1",
"P62877-1",
"P28340-1",
"Q07864-1",
"P18074-1",
"P28715-1",
"Q03468-1",
"Q9UBT6-1",
"Q09472-1",
"P24928-1",
"O60306-1",
"Q9UNP9-1",
"Q93009-1",
"P30876-1",
"P50613-1",
"P19447-1",
"Q9UMS4-1"
],
"evidence": [
{
"id": "R-HSA-6782211",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6782211"
}
]
},
{
"id": "R-HSA-6782224",
"name": "3' incision by ERCC5 (XPG) in TC-NER",
"equation": "",
"summary": "In transcription-coupled nucleotide excision repair (TC-NER), as well as in global genome nucleotide excision repair (GG-NER), the cleavage of the damaged DNA strand 3' to the site of damage is carried out by a DNA endonuclease XPG (ERCC5). While the NER-mediated DNA synthesis may be initiated prior to the 3' incision (Staresincic et al. 2009), the components of the incision complex probably dissociate from the NER site shortly after the DNA synthesis complex assembly and 3' incision (Overmeer et al. 2011). The exception is the RPA heterotrimer, which is a constituent of the NER post-incision complex, and also coats the undamaged DNA strand, thereby protecting it from endonucleolytic cleavage. RNA polymerase II-associated factors also remain bound to the TC-NER site.",
"cellular_location": "nucleoplasm",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"Q92889-1",
"P62877-1",
"P28340-1",
"Q07864-1",
"P18074-1",
"P28715-1",
"Q03468-1",
"Q9UBT6-1",
"Q09472-1",
"P24928-1",
"O60306-1",
"Q9UNP9-1",
"Q93009-1",
"P30876-1",
"P50613-1",
"P19447-1",
"Q9UMS4-1"
],
"evidence": [
{
"id": "R-HSA-6782224",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6782224"
}
]
},
{
"id": "R-HSA-6782227",
"name": "Ligation of newly synthesized repair patch to incised DNA in TC-NER",
"equation": "",
"summary": "The nucleotide excision repair (NER) is completed when the newly synthesized fragment is ligated to the incised DNA strand, thus sealing the single stranded nick (SSB). Two DNA ligases, LIG1 and LIG3 (as a part of LIG3:XRCC1 complex) can perform the ligation in transcription-coupled NER (TC-NER), as well as in global genome NER (GG-NER). The choice of NER DNA ligase depends on the DNA polymerase involved in repair synthesis and probably the stage of the cell cycle (Moser et al. 2007).",
"cellular_location": "nucleoplasm",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P62877-1",
"P28340-1",
"P49916-1",
"Q07864-1",
"P18074-1",
"Q03468-1",
"Q9UBT6-1",
"Q09472-1",
"P24928-1",
"O60306-1",
"Q9UNP9-1",
"Q93009-1",
"P18858-1",
"P30876-1",
"P50613-1",
"P19447-1",
"Q9UMS4-1"
],
"evidence": [
{
"id": "R-HSA-6782227",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6782227"
}
]
},
{
"id": "R-HSA-6782234",
"name": "Recovery of RNA synthesis after TC-NER",
"equation": "",
"summary": "After DNA repair synthesis is completed at transcription-coupled nucleotide excision repair (TC-NER) sites, transcription resumes. A number of factors have been implicated in this process. ERCC6 (CSB) contains an ubiquitin-binding domain that is indispensable for its function in TC-NER and the restoration of damage-inhibited RNA synthesis (Anindya et al. 2010). The ubiquitin ligase activity of the ERCC8:DDB1:CUL4:RBX1 complex plays an important role in termination of TC-NER, possibly by targeting ERCC6 or its ubiquitinated partner for degradation and promoting dissociation of repair factors from the RNA polymerase II complex (Groisman et al. 2006, Vermeulen and Fousteri 2013). The ubiquitin protease complex composed of UVSSA and USP7 is also implicated in the recovery of RNA synthesis (RRS) (Nakazawa et al. 2012, Scwertman et al. 2012, Zhang et al. 2012, Fei and Chen 2012). ELL protein, recruited to the TFIIH complex, possibly as a component of the little elongation complex, is needed for RRS (Mourgues et al. 2013). Furthermore, histone chaperone FACT promotes accelerated histone exchange at TC-NER sites, allowing efficient progression of TC-NER and restoration of RNA synthesis after the repair of transcription blocking damages is completed (Dinant et al. 2013).",
"cellular_location": "nucleoplasm",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P62877-1",
"P18074-1",
"Q03468-1",
"Q09472-1",
"P24928-1",
"O60306-1",
"Q9UNP9-1",
"Q93009-1",
"P30876-1",
"P50613-1",
"P19447-1",
"Q9UMS4-1"
],
"evidence": [
{
"id": "R-HSA-6782234",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6782234"
}
]
},
{
"id": "R-HSA-9684118",
"name": "ERCC3-facilitated RNA Pol II backtracking in TC-NER",
"equation": "",
"summary": "The DNA helicase XPB (ERCC3), which is part of the TFIIH complex, unwinds the distorted DNA duplex around the lesion to form an open bubble structure that exposes the damaged site. ERCC3 is a 3'->5' directed DNA helicase whose ATPase activity, together with the 5'->3 directed helicase activity of ERCC2 (Kuper et al. 2012), contributes to dsDNA unwinding during nucleotide excision repair (NER) (Coin et al. 2007). In transcription-coupled NER (TC-NER), the ATPase activity of TFIIH complex, related to its helicase activity, is in addition necessary for the incision of the damaged DNA strand. While the endonuclease ERCC5 (XPG) can bind stalled RNA polymerase II (RNA Pol II) at a transcription bubble, it cannot perform incision in the absence of the TFIIH ATPase activity (Sarker et al. 2005). The helicase activity of the TFIIH complex may allow backtracking of the RNA Pol II, similar to the UvrD helicase involved in TC-NER in E.coli. Pulling RNA Pol II backwards from the DNA damage site would resolve steric hindrance of the RNA Pol II complex with the TC-NER endonucleases (Epshtein et al. 2014). RNA Pol II backtracking is accompanied by a partial digestion of the nascent 3' protruding mRNA via the 3'->5' directed exonuclease activity of RNA Pol II, which is stimulated by TCEA1 (TFIIS) (Donahue et al. 1994). Partial transcript digestion and RNA Pol II backtracking move the transcription bubble away from the open bubble that contains the DNA damage site (reviewed by Hanawalt and Spivak 2008).",
"cellular_location": "nucleoplasm",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P62877-1",
"P18074-1",
"Q03468-1",
"Q09472-1",
"P24928-1",
"O60306-1",
"Q9UNP9-1",
"Q93009-1",
"P30876-1",
"P50613-1",
"P19447-1",
"Q9UMS4-1"
],
"evidence": [
{
"id": "R-HSA-9684118",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9684118"
}
]
},
{
"id": "R-HSA-9770131",
"name": "Formation of the Spliceosomal B* complex",
"equation": "",
"summary": "DHX16 (homolog of yeast Prp2) hydrolyzes ATP in the Spliceosomal Bact complex to form the Spliceosomal B* complex (Gencheva et al. 2010), possibly by pulling the intron to dissociate the RES complex and the SF3A and SF3B subcomplexes of the U2 snRNP from the spliceosome (Bessonov et al. 2010, Agafonov et al. 2011, Schmidt et al. 2014, Kastner et al. 2019). The intron branch point now docks near the 5' splice site (Zhan et al. 2018), displacing RNF113A (homolog of yeast Cwc24) (Schmidt et al. 2014, Zhan et al. 2018). YJU2 and ISY1 bind and distort the helix of the branch point to fit the active site (Zhan et al. 2018). Prior to the transesterification reaction between the adenosine residue of the intron branch point and the 5' splice site, the complex is called the Spliceosomal B* complex.
Components of the core exon junction complex (EJC) comprising EIF4A3, CASC3, MAGOH, and RBM8A are recruited to the spliceosome around this time (Kataoka and Dreyfuss 2004) by an interaction between CWC22 and EIF4A3 (Reichert et al. 2002, Alexandrov et al. 2012, Barbosa et al. 2012, Steckelberg et al. 2012, Busetto et al. 2020), though they may not yet bind RNA. CWC27 must be displaced in order for RBM8A (Y14) to bind (Busetto et al. 2020). Due to the position of CWC22 in the spliceosome, the EJC will be deposited on the 5' exon about 20-24 nucleotides upstream of the 5' splice site. The components and formation of the spliceosomal B* complex are partly inferred from the composition of the spliceosomal C complex (Jurica et al. 2002, Makarov et al. 2002, Rappsilber et al. 2002, Reichert et al. 2002, Bessonov et al. 2010, Agafonov et al. 2011, Schmidt et al. 2014, Zhan et al. 2018, Kastner et al. 2019).",
"cellular_location": "nucleoplasm",
"input_participant_list": [
"R-HSA-156776",
"R-HSA-72060",
"R-HSA-8849148",
"R-HSA-8867884",
"R-HSA-8867893",
"R-HSA-8867898",
"R-HSA-8952113",
"R-HSA-9769592",
"R-HSA-9770419",
"R-HSA-9770425",
"R-HSA-9770427",
"R-HSA-9770428",
"R-HSA-9770430"
],
"output_participant_list": [
"R-HSA-2396419",
"R-HSA-71967",
"R-HSA-71976"
],
"enzyme_list": [
"O75643-1",
"Q86XP3-1",
"Q13356-1",
"Q96BP3-1",
"Q9H2H8-1",
"O15541-1",
"P11142-1",
"P24928-1",
"O60306-1",
"Q9UNP9-1",
"P38919-1",
"Q13838-1",
"Q9Y3C6-1",
"Q8WUA2-1",
"Q13427-1",
"Q7L014-1",
"P30876-1",
"O60231-1",
"Q92620-1",
"P42285-1",
"P17844-1",
"O43143-1",
"Q9H5Z1-1",
"Q9UMS4-1"
],
"evidence": [
{
"id": "R-HSA-9770131",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9770131"
}
]
},
{
"id": "R-HSA-9770141",
"name": "Formation of the Spliceosomal C* complex",
"equation": "",
"summary": "DHX38 (homolog of yeast Prp16) hydrolyzes ATP to remodel the Spliceosomal C complex to the Spliceosomal C* complex (Ortlepp et al. 1998, Zhou and Reed 1998), which will ligate the exons and produce the intron lariat, yielding the Spliceosomal P (post-catalytic) complex. DHX38 appears to dissociate shortly after remodeling the Spliceosomal C complex (Zhang et al. 2017, Kastner et al. 2019). Catalysis of exon ligation will occur in the same active site as branching occurred. Therefore, the pre-mRNA must be moved relative to the active site. DHX38 binds the pre-mRNA downstream of the intron branch point, displaces YJU2 and CWC25, and rotates the branch helix out of the active site to allow the 3' splice junction to enter (Bertram et al. 2017, Zhang et al. 2017). The branch helix is stabilized after re-positioning by CDC40 (homolog of yeast Prp17) bound to the 5' stem-loop of the U6 snRNA and PRPF8 (homolog of yeast Prp8) of the U5 snRNP (Bertram et al. 2017, Zhang et al. 2017). SLU7 and PRPF18 (homolog of yeast Prp18) are components of the Spliceosomal C* complex and participate in docking the 3' splice site in the active site (Bertram et al. 2017, Zhang et al. 2017). The 3' end of the upstream exon base-pairs with loop I of U5 snRNA and the branch point region of the intron base-pairs with the U2 snRNA and U6 snRNA (Bertram et al. 2017, Zhang et al. 2017). As in yeast (Wilkinson et al. 2017), the 3' splice site may form non-Watson-Crick base pairs with the 5' splice site and branch point of the intron. The 3' splice site may also interact with SLU7 (Bertram et al. 2017, Zhang et al. 2017), PRPF18 (homolog of yeast Prp18), and DHX8 (homolog of yeast Prp22). As in the Bact complex, the catalytic magnesium ions of the active Spliceosomal C complex are coordinated by phosphates of the U6 snRNA (Bertram et al. 2017, Zhang et al. 2017). The components of the Spliceosomal C* complex have been ascertained using proteomic and structural methods (Jurica et al. 2002, Makarov et al. 2002, Rappsilber et al. 2002, Ilagan et al. 2013, Bertram et al. 2017, Zhang et al. 2017, Kastner et al. 2019, also inferred from yeast homologs in Fica et al. 2017). Mutations in DHX38 affect splicing and can cause retinitis pigmentosa (Ajmal et al. 2014, Obuca et al. 2022).",
"cellular_location": "nucleoplasm",
"input_participant_list": [
"R-HSA-72073",
"R-HSA-9769591",
"R-HSA-9769593",
"R-HSA-9769594",
"R-HSA-9769596",
"R-HSA-9769598",
"R-HSA-9769599",
"R-HSA-9769601"
],
"output_participant_list": [],
"enzyme_list": [
"O75643-1",
"Q13356-1",
"Q96BP3-1",
"Q9H2H8-1",
"P11142-1",
"P24928-1",
"O60306-1",
"Q9UNP9-1",
"P38919-1",
"Q14562-1",
"Q13838-1",
"Q9Y3C6-1",
"Q8WUA2-1",
"Q13427-1",
"Q7L014-1",
"P30876-1",
"Q92620-1",
"P42285-1",
"P17844-1",
"O43143-1",
"Q9H5Z1-1",
"Q9UJV9-1",
"Q9UMS4-1"
],
"evidence": [
{
"id": "R-HSA-9770141",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9770141"
}
]
},
{
"id": "R-HSA-9770145",
"name": "Formation of the Spliceosomal Bact complex",
"equation": "",
"summary": "Activation of the Spliceosomal B complex to form the Spliceosomal Bact complex is believed to occur in several complex steps. SNRNP200 (homolog of yeast Brr2) of the U5 snRNP uses ATP to dissociate the U4 snRNP from the spliceosome. This renders U6 snRNA free to form additional interactions with U2 snRNA and fold its internal stem loop to create the active site (Laggerbauer et al. 1998, Lamond et al. 1988, Bessonov et al. 2010, Agafonov et al. 2011, Fica et al. 2013, Galej et al. 2016, Haselbach et al. 2018, Zhang et al. 2018, Kastner et al. 2019). In this active site four phosphate groups of the U6 snRNA cooridinate the two magnesium ions that catalyze both transesterification reactions of pre-mRNA splicing..The PRP19-CDC5L complex (Ajuh et al. 2000, also called the NTC complex) and the PRP19-CDC5L related complex (also called the NTR complex) are recruited during this transition and stabilize the active site (Bessonov et al. 2010, Agafonov et al. 2011, Haselbach et al. 2018, Zhang et al. 2018, Kastner et al. 2019). Splicing does not yet occur because the SF3B1 subunit of the U2 snRNP blocks the branch point and SF3A2 and RNF113A protect the 5' splice site, preventing the intron branch point from reacting with the 5' splice site (Gozani et al. 1996, Gozani et al. 1998, Haselbach et al. 2018, Zhang et al. 2018, Tholen et al. 2022). SNRNP200 and the RES complex retain the SF3B subcomplex in the spliceosome (Haselbach et al. 2018, Zhang et al. 2018). CWC22 recruits EIF4A3, which will form the exon junction complex (EJC) (Busetto et al. 2020) . The components of the Spliceosomal Bact complex have been ascertained using proteomic and structural methods (Bessonov et al. 2010, Agafonov et al. 2011, Haselbach et al. 2018, Zhang et al. 2018, Kastner et al. 2019, Townsend et al. 2020).",
"cellular_location": "nucleoplasm",
"input_participant_list": [
"R-HSA-8849149",
"R-HSA-8850837",
"R-HSA-8850839",
"R-HSA-8865956",
"R-HSA-8867885",
"R-HSA-8867892",
"R-HSA-8952110",
"R-HSA-9769561",
"R-HSA-9769562",
"R-HSA-9769563"
],
"output_participant_list": [
"R-HSA-3246027",
"R-HSA-53517",
"R-HSA-71875",
"R-HSA-71881"
],
"enzyme_list": [
"O75643-1",
"Q86XP3-1",
"Q13356-1",
"Q9H2H8-1",
"O15541-1",
"P11142-1",
"Q08211-1",
"P24928-1",
"O60306-1",
"Q9UNP9-1",
"P38919-1",
"Q13838-1",
"Q9Y3C6-1",
"Q7L014-1",
"P30876-1",
"O60231-1",
"Q9BUQ8-1",
"P42285-1",
"P17844-1",
"O43143-1",
"Q9UMS4-1",
"O43447-1"
],
"evidence": [
{
"id": "R-HSA-9770145",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9770145"
}
]
},
{
"id": "R-HSA-9770236",
"name": "Formation of the Spliceosomal P complex and exon ligation",
"equation": "",
"summary": "Two magnesium ions coordinated by 4 phosphate groups of the U6 snRNA in the Spliceosomal C* complex (Bertram et al. 2017, Zhang et al. 2017) catalyze the transesterification reaction between the 3' nucleotide residue of the upstream exon and the 5' nucleotide residue of the downstream exon. The 3' hydroxyl group of the upstream exon nucleophilically attacks the 5' phosphate group of the downstream exon and the magnesium ions stabilize the pentacovalent transition state. Upon completion of exon ligation, the Spliceosomal P complex (post-catalytic complex) is formed. CACTIN, SDE2, NKAP, and PKRIP1 originally present in the Spliceosomal C* complex stabilize the branch helix (Fica et al. 2019, Zhang et al. 2019). FAM32A, not found in yeast, bridges the upstream exon and the 3' splice site of the intron in the Spliceosomal P complex (Fica et al. 2019). An Exon Junction Complex (EJC) is bound to the upstream exon 20-24 nucleotides upstream of the splice site (Zhang and Krainer 2007, Zhang et al. 2019). SRRM2 and CWC22 are also bound to the upstream exon (Zhang et al. 2019). ALYREF, which was initially recruited to the cap binding complex of the early spliceosome, now becomes associated with EJCs and nearby regions on the spliced mRNA (Zhou et al. 2000, Chi et al. 2013). Auxiliary factors, the ASAP complex or the PSAP complex also bind the EJC (Tange et al. 2005). DHX8 (homolog of yeast Prp22) which will dissociate the spliced mRNP from the Intron Lariat Spliceosome is bound to PRPF8 (homolog of yeast Prp8) (Zhang et al. 2019). The components of the Spliceosomal P complex have been ascertained using proteomic and structural methods (Kataoka and Dreyfuss 2004, Ilagan et al. 2013, Fica et al. 2019).",
"cellular_location": "nucleoplasm",
"input_participant_list": [
"R-HSA-9769588",
"R-HSA-9769590",
"R-HSA-9769602"
],
"output_participant_list": [
"R-HSA-5688093"
],
"enzyme_list": [
"O75643-1",
"Q13356-1",
"Q96BP3-1",
"Q9H2H8-1",
"P11142-1",
"P24928-1",
"O60306-1",
"Q9UNP9-1",
"P38919-1",
"Q14562-1",
"Q13838-1",
"Q9Y3C6-1",
"Q8WUA2-1",
"Q13427-1",
"Q7L014-1",
"P30876-1",
"P42285-1",
"P17844-1",
"O43143-1",
"Q9UJV9-1",
"Q9UMS4-1"
],
"evidence": [
{
"id": "R-HSA-9770236",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9770236"
}
]
},
{
"id": "R-HSA-9770847",
"name": "Spliceosomal P complex dissociates yielding the intron-containing complex (ILS) and the spliced mRNP (new)",
"equation": "",
"summary": "DHX8 (homolog of yeast Prp22) hydrolyzes ATP and translocates along the RNA in a 3' to 5' direction (Felisberto-Rodrigues et al. 2019) to release the spliced mRNA and associated proteins (Merz et al. 2007), including the exon junction complex (EJC), from the Spliceosomal P complex (Ohno and Shimura 1996, Zhang et al. 2019). After the second splicing reaction, DHX8 interacts with CACTIN and SRRM2 in the Spliceosomal P complex and is bound to the 3' exon downstream of the 3' splice site. As DHX8 translocates along the RNA, it is thought to pull the 3' end of the spliced exon and dissociate the spliced exon from the U5 snRNA. SLU7 and PRPF18 are also dissociated from the spliceosome at this time. The intron lariat remains bound to the intron lariat spliceosome (ILS) (Yoshimoto et al. 2009). TFIP11 (homolog of yeast Ntr1) is present in the ILS (Yoshimoto et al. 2009) and recruits DDX15 (homolog of yeast Prp43) to disassemble the ILS.",
"cellular_location": "nucleoplasm",
"input_participant_list": [
"R-HSA-5688097",
"R-HSA-8869310",
"R-HSA-8869311",
"R-HSA-9770846"
],
"output_participant_list": [
"R-HSA-3900136",
"R-HSA-5688092",
"R-HSA-6814858",
"R-HSA-8865888"
],
"enzyme_list": [
"O75643-1",
"Q96BP3-1",
"Q9H2H8-1",
"P11142-1",
"P24928-1",
"O60306-1",
"Q9UNP9-1",
"P38919-1",
"Q14562-1",
"Q9Y3C6-1",
"Q13427-1",
"Q7L014-1",
"P30876-1",
"P17844-1",
"O43143-1",
"Q9UJV9-1",
"Q9UMS4-1"
],
"evidence": [
{
"id": "R-HSA-9770847",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9770847"
}
]
},
{
"id": "R-HSA-9772351",
"name": "Disassembly of the Intron Lariat Spliceosome (new)",
"equation": "",
"summary": "DHX15 (the homolog of yeast Prp43) hydrolyzes ATP (Studer et al. 2020) and translocates along U6 snRNA (inferred from yeast Prp43 in Toroney et al. 2019) to release the lariat intron from the Intron Lariat Spliceosome (ILS) (Yoshimoto et al. 2009). TFIP11 (homolog of yeast Ntr1) and GCFC2 (C2ORF3, homolog of yeast Ntr2) bind and stimulate DHX15 activity (Wen et al. 2008, Yoshimoto et al. 2014). The disassembly process is observed as a shift from the ILS to the Intron Small complex., which contains the lariat intron and some undefined proteins (Yoshimoto et al. 2009). The PRP19-CDC5L complex (NTC), the PRP19-CDC5L related complex (NTR), the U5 snRNP, U2 12S snRNP, and U6 snRNA are released and reused in subsequent splicing reactions (Yoshimoto et al. 2009).The intron lariat is debranched (linearized) by the 2'-5' phosphodiesterase DBR1 (Kataoka et al. 2013) and then degraded by specific decay machineries.",
"cellular_location": "nucleoplasm",
"input_participant_list": [],
"output_participant_list": [
"R-HSA-8869309"
],
"enzyme_list": [
"O75643-1",
"P11142-1",
"O60306-1",
"Q9UNP9-1",
"Q9Y3C6-1",
"Q7L014-1",
"O43143-1",
"Q9UMS4-1"
],
"evidence": [
{
"id": "R-HSA-9772351",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772351"
}
]
}
],
"reaction_participants": [
{
"participant_id": "R-HSA-156776",
"participant_name": "UPF3B [nucleoplasm]",
"crossref": [
{
"id": "Q9BZI7",
"database": "UniProt",
"url": ""
},
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{
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}
]
},
{
"participant_id": "R-HSA-2396419",
"participant_name": "MFAP1 [nucleoplasm]",
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{
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{
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"participant_name": "TCERG1 [nucleoplasm]",
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{
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{
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{
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{
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{
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},
{
"participant_id": "R-HSA-3900136",
"participant_name": "DDX5 [nucleoplasm]",
"crossref": [
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},
{
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{
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{
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"database": "HMDB Protein",
"url": ""
},
{
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"url": ""
},
{
"id": "NP_001307525.1",
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"url": ""
},
{
"id": "ENST00000225792",
"database": "Ensembl",
"url": ""
}
]
},
{
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"crossref": [
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"url": ""
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{
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{
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"url": ""
},
{
"id": "ENSG00000135829-DHX9",
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"url": ""
},
{
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"url": ""
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{
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"url": ""
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{
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{
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"url": ""
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{
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"url": ""
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{
"id": "Q08211",
"database": "PRO",
"url": ""
},
{
"id": "Q08211",
"database": "Pharos - Targets",
"url": ""
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{
"id": "NP_001348.2",
"database": "RefSeq",
"url": ""
},
{
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"url": ""
},
{
"id": "3LLM",
"database": "PDB",
"url": ""
},
{
"id": "ENSG00000135829",
"database": "Ensembl",
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