{
"uniprot_canonical_ac": "O14744-1",
"uniprot_ac": "O14744",
"uniprot_id": "ANM5_HUMAN",
"mass": {
"chemical_mass": 72684.0,
"monoisotopic_mass": 72684.0
},
"refseq": {
"ac": "NP_001034708",
"name": "protein arginine N-methyltransferase 5 isoform b",
"summary": "This gene encodes an enzyme that belongs to the methyltransferase family. The encoded protein catalyzes the transfer of methyl groups to the amino acid arginine, in target proteins that include histones, transcriptional elongation factors and the tumor suppressor p53. This gene plays a role in several cellular processes, including transcriptional regulation, and the assembly of small nuclear ribonucleoproteins. A pseudogene of this gene has been defined on chromosome 4. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2015].",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034708"
},
"gene_names": [
{
"name": "PRMT5",
"resource": "UniProtKB",
"type": "recommended",
"url": "https://www.uniprot.org/uniprot/O14744",
"id": "O14744"
},
{
"name": "HRMT1L5; HSL7; IBP72; JBP1; SKB1; SKB1Hs",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034708",
"id": "NP_001034708"
},
{
"name": "HRMT1L5",
"resource": "UniProtKB",
"type": "synonym",
"url": "https://www.uniprot.org/uniprot/O14744",
"id": "O14744"
},
{
"name": "IBP72",
"resource": "UniProtKB",
"type": "synonym",
"url": "https://www.uniprot.org/uniprot/O14744",
"id": "O14744"
},
{
"name": "JBP1",
"resource": "UniProtKB",
"type": "synonym",
"url": "https://www.uniprot.org/uniprot/O14744",
"id": "O14744"
},
{
"name": "PRMT5",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034708",
"id": "NP_001034708"
},
{
"name": "SKB1",
"resource": "UniProtKB",
"type": "synonym",
"url": "https://www.uniprot.org/uniprot/O14744",
"id": "O14744"
}
],
"protein_names": [
{
"name": "Protein arginine N-methyltransferase 5",
"resource": "UniProtKB",
"type": "recommended",
"url": "",
"id": "O14744"
},
{
"name": "2.1.1.320",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "O14744"
},
{
"name": "72 kDa ICln-binding protein",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "O14744"
},
{
"name": "Histone-arginine N-methyltransferase PRMT5",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "O14744"
},
{
"name": "Jak-binding protein 1",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "O14744"
},
{
"name": "PRMT5",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "O14744"
},
{
"name": "SKB1 homolog",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "O14744"
},
{
"name": "SKB1Hs",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "O14744"
},
{
"name": "Shk1 kinase-binding protein 1 homolog",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "O14744"
},
{
"name": "protein arginine N-methyltransferase 5 isoform b",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034708",
"id": "NP_001034708"
},
{
"name": "protein arginine N-methyltransferase 5; HMT1 hnRNP methyltransferase-like 5; jak-binding protein 1; 72 kDa ICln-binding protein; shk1 kinase-binding protein 1 homolog; histone-arginine N-methyltransferase PRMT5; SKB1 homolog",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034708",
"id": "NP_001034708"
}
],
"function": [
{
"annotation": "Antitumor Effects of PRMT5 Inhibition in Sarcomas.",
"evidence": [
{
"database": "RefSeq",
"id": "NP_001034708",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034708"
},
{
"database": "PubMed",
"id": "37861293",
"url": "https://glygen.org/publication/PubMed/37861293"
}
]
},
{
"annotation": "Arginine methyltransferase that can both catalyze the formation of omega-N monomethylarginine (MMA) and symmetrical dimethylarginine (sDMA), with a preference for the formation of MMA (PubMed:10531356, PubMed:11152681, PubMed:11747828, PubMed:12411503, PubMed:15737618, PubMed:17709427, PubMed:20159986, PubMed:20810653, PubMed:21258366, PubMed:21917714, PubMed:22269951, PubMed:21081503). Specifically mediates the symmetrical dimethylation of arginine residues in the small nuclear ribonucleoproteins Sm D1 (SNRPD1) and Sm D3 (SNRPD3); such methylation being required for the assembly and biogenesis of snRNP core particles (PubMed:12411503, PubMed:11747828, PubMed:17709427). Methylates SUPT5H and may regulate its transcriptional elongation properties (PubMed:12718890). May methylate the N-terminal region of MBD2 (PubMed:16428440). Mono- and dimethylates arginine residues of myelin basic protein (MBP) in vitro. May play a role in cytokine-activated transduction pathways. Negatively regulates cyclin E1 promoter activity and cellular proliferation. Methylates histone H2A and H4 'Arg-3' during germ cell development (By similarity). Methylates histone H3 'Arg-8', which may repress transcription (By similarity). Methylates the Piwi proteins (PIWIL1, PIWIL2 and PIWIL4), methylation of Piwi proteins being required for the interaction with Tudor domain-containing proteins and subsequent localization to the meiotic nuage (By similarity). Methylates RPS10. Attenuates EGF signaling through the MAPK1/MAPK3 pathway acting at 2 levels. First, monomethylates EGFR; this enhances EGFR 'Tyr-1197' phosphorylation and PTPN6 recruitment, eventually leading to reduced SOS1 phosphorylation (PubMed:21917714, PubMed:21258366). Second, methylates RAF1 and probably BRAF, hence destabilizing these 2 signaling proteins and reducing their catalytic activity (PubMed:21917714). Required for induction of E-selectin and VCAM-1, on the endothelial cells surface at sites of inflammation. Methylates HOXA9 (PubMed:22269951). Methylates and regulates SRGAP2 which is involved in cell migration and differentiation (PubMed:20810653). Acts as a transcriptional corepressor in CRY1-mediated repression of the core circadian component PER1 by regulating the H4R3 dimethylation at the PER1 promoter (By similarity). Methylates GM130/GOLGA2, regulating Golgi ribbon formation (PubMed:20421892). Methylates H4R3 in genes involved in glioblastomagenesis in a CHTOP- and/or TET1-dependent manner (PubMed:25284789). Symmetrically methylates POLR2A, a modification that allows the recruitment to POLR2A of proteins including SMN1/SMN2 and SETX. This is required for resolving RNA-DNA hybrids created by RNA polymerase II, that form R-loop in transcription terminal regions, an important step in proper transcription termination (PubMed:26700805). Along with LYAR, binds the promoter of gamma-globin HBG1/HBG2 and represses its expression (PubMed:25092918). Symmetrically methylates NCL (PubMed:21081503). Methylates p53/TP53; methylation might possibly affect p53/TP53 target gene specificity (PubMed:19011621). Involved in spliceosome maturation and mRNA splicing in prophase I spermatocytes through the catalysis of the symmetrical arginine dimethylation of SNRPB (small nuclear ribonucleoprotein-associated protein) and the interaction with tudor domain-containing protein TDRD6 (By similarity).",
"evidence": [
{
"database": "UniProtKB",
"id": "O14744",
"url": "https://www.uniprot.org/uniprot/O14744#function"
},
{
"database": "PubMed",
"id": "20421892",
"url": "https://glygen.org/publication/PubMed/20421892"
},
{
"database": "PubMed",
"id": "17709427",
"url": "https://glygen.org/publication/PubMed/17709427"
},
{
"database": "PubMed",
"id": "12411503",
"url": "https://glygen.org/publication/PubMed/12411503"
},
{
"database": "PubMed",
"id": "26700805",
"url": "https://glygen.org/publication/PubMed/26700805"
},
{
"database": "UniProtKB",
"id": "Q8CIG8",
"url": "https://www.uniprot.org/uniprot/Q8CIG8#function"
},
{
"database": "PubMed",
"id": "10531356",
"url": "https://glygen.org/publication/PubMed/10531356"
},
{
"database": "PubMed",
"id": "21917714",
"url": "https://glygen.org/publication/PubMed/21917714"
},
{
"database": "PubMed",
"id": "25284789",
"url": "https://glygen.org/publication/PubMed/25284789"
},
{
"database": "PubMed",
"id": "15737618",
"url": "https://glygen.org/publication/PubMed/15737618"
},
{
"database": "PubMed",
"id": "21258366",
"url": "https://glygen.org/publication/PubMed/21258366"
},
{
"database": "PubMed",
"id": "16428440",
"url": "https://glygen.org/publication/PubMed/16428440"
},
{
"database": "PubMed",
"id": "20810653",
"url": "https://glygen.org/publication/PubMed/20810653"
},
{
"database": "PubMed",
"id": "12718890",
"url": "https://glygen.org/publication/PubMed/12718890"
},
{
"database": "PubMed",
"id": "11152681",
"url": "https://glygen.org/publication/PubMed/11152681"
},
{
"database": "PubMed",
"id": "21081503",
"url": "https://glygen.org/publication/PubMed/21081503"
},
{
"database": "PubMed",
"id": "22269951",
"url": "https://glygen.org/publication/PubMed/22269951"
},
{
"database": "PubMed",
"id": "25092918",
"url": "https://glygen.org/publication/PubMed/25092918"
},
{
"database": "PubMed",
"id": "20159986",
"url": "https://glygen.org/publication/PubMed/20159986"
},
{
"database": "PubMed",
"id": "19011621",
"url": "https://glygen.org/publication/PubMed/19011621"
},
{
"database": "PubMed",
"id": "11747828",
"url": "https://glygen.org/publication/PubMed/11747828"
}
]
},
{
"annotation": "CircMMP2(6,7) Cooperates with beta-Catenin and PRMT5 to Disrupt Bone Homeostasis and Promote Breast Cancer Bone Metastasis.",
"evidence": [
{
"database": "RefSeq",
"id": "NP_001034708",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034708"
},
{
"database": "PubMed",
"id": "37963200",
"url": "https://glygen.org/publication/PubMed/37963200"
}
]
},
{
"annotation": "MST2 methylation by PRMT5 inhibits Hippo signaling and promotes pancreatic cancer progression.",
"evidence": [
{
"database": "RefSeq",
"id": "NP_001034708",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034708"
},
{
"database": "PubMed",
"id": "37905571",
"url": "https://glygen.org/publication/PubMed/37905571"
}
]
},
{
"annotation": "PRMT5 participates in B cell overactivation in patients with primary Sjogren's syndrome (pSS) through RSAD2-mediated NF-kappaB signaling.",
"evidence": [
{
"database": "RefSeq",
"id": "NP_001034708",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034708"
},
{
"database": "PubMed",
"id": "38156384",
"url": "https://glygen.org/publication/PubMed/38156384"
}
]
},
{
"annotation": "This gene encodes an enzyme that belongs to the methyltransferase family. The encoded protein catalyzes the transfer of methyl groups to the amino acid arginine, in target proteins that include histones, transcriptional elongation factors and the tumor suppressor p53. This gene plays a role in several cellular processes, including transcriptional regulation, and the assembly of small nuclear ribonucleoproteins. A pseudogene of this gene has been defined on chromosome 4. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2015].",
"evidence": [
{
"database": "RefSeq",
"id": "NP_001034708",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034708"
}
]
},
{
"annotation": "[Expression of ProEXC and PRMT5 in cervical adenocarcinoma and their clinical significance].",
"evidence": [
{
"database": "RefSeq",
"id": "NP_001034708",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034708"
},
{
"database": "PubMed",
"id": "38129175",
"url": "https://glygen.org/publication/PubMed/38129175"
}
]
}
],
"disease": [],
"snv": [
{
"evidence": [
{
"id": "rs762341644",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762341644"
},
{
"id": "rs762341644",
"database": "ExAC",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762341644"
}
],
"glycoeffect": [
"n-glyco-sequon-gain"
],
"start_pos": 133,
"end_pos": 133,
"sequence_org": "N",
"sequence_mut": "S",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NTN->NTS).",
"chr_id": "14",
"chr_pos": "22927578",
"ref_nt": "C",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "N133",
"keywords": [
"ebi",
"germline"
]
},
{
"evidence": [
{
"id": "rs762341644",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762341644"
},
{
"id": "rs762341644",
"database": "ExAC",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762341644"
}
],
"glycoeffect": [
"n-glyco-sequon-gain"
],
"start_pos": 133,
"end_pos": 133,
"sequence_org": "N",
"sequence_mut": "T",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NTN->NTT).",
"chr_id": "14",
"chr_pos": "22927578",
"ref_nt": "G",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "N133",
"keywords": [
"ebi",
"germline"
]
},
{
"evidence": [
{
"id": "rs754833183",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754833183"
},
{
"id": "rs754833183",
"database": "ExAC",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754833183"
},
{
"id": "rs754833183",
"database": "gnomAD",
"url": "http://gnomad.broadinstitute.org/awesome?query=rs754833183"
}
],
"glycoeffect": [
"n-glyco-sequon-gain"
],
"start_pos": 172,
"end_pos": 172,
"sequence_org": "P",
"sequence_mut": "S",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NAP->NAS).",
"chr_id": "14",
"chr_pos": "22926751",
"ref_nt": "A",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "P172",
"keywords": [
"ebi",
"germline"
]
},
{
"evidence": [
{
"id": "rs1399281079",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1399281079"
},
{
"id": "rs1399281079",
"database": "gnomAD",
"url": "http://gnomad.broadinstitute.org/awesome?query=rs1399281079"
}
],
"glycoeffect": [
"n-glyco-sequon-gain",
"o-glyco-site-loss"
],
"start_pos": 606,
"end_pos": 606,
"sequence_org": "S",
"sequence_mut": "N",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SNS->NNS).",
"chr_id": "14",
"chr_pos": "22921001",
"ref_nt": "T",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "S606",
"keywords": [
"ebi",
"germline"
]
},
{
"evidence": [
{
"id": "rs565682196",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs565682196"
},
{
"id": "rs565682196",
"database": "ENSEMBL",
"url": "https://www.ensembl.org/id/rs565682196"
}
],
"glycoeffect": [
"n-glyco-sequon-gain"
],
"start_pos": 628,
"end_pos": 628,
"sequence_org": "P",
"sequence_mut": "L",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NPT->NLT).",
"chr_id": "14",
"chr_pos": "22920935",
"ref_nt": "A",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "P628",
"keywords": [
"ebi",
"germline"
]
},
{
"evidence": [
{
"id": "rs1338803253",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1338803253"
},
{
"id": "rs1338803253",
"database": "TOPMed",
"url": "https://www.ncbi.nlm.nih.gov/snp/rs1338803253#frequency_tab"
}
],
"glycoeffect": [
"o-glyco-site-loss"
],
"start_pos": 74,
"end_pos": 74,
"sequence_org": "S",
"sequence_mut": "P",
"comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->P).",
"chr_id": "14",
"chr_pos": "22928506",
"ref_nt": "G",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "S74",
"keywords": [
"ebi",
"germline"
]
}
],
"mutagenesis": [
{
"start_pos": 365,
"end_pos": 369,
"sequence_org": "GAGRG",
"sequence_mut": "",
"comment": "Increased MAPK1/MAPK3 phosphorylation in response to EGF.",
"evidence": [
{
"database": "UniProtKB",
"id": "O14744",
"url": "https://www.uniprot.org/uniprot/O14744"
},
{
"database": "PubMed",
"id": "21917714",
"url": "https://glygen.org/publication/PubMed/21917714"
}
]
},
{
"start_pos": 367,
"end_pos": 368,
"sequence_org": "GR",
"sequence_mut": "AA",
"comment": "Abolishes enzymatic activity.",
"evidence": [
{
"database": "UniProtKB",
"id": "O14744",
"url": "https://www.uniprot.org/uniprot/O14744"
},
{
"database": "PubMed",
"id": "15485929",
"url": "https://glygen.org/publication/PubMed/15485929"
}
]
}
],
"expression_tissue": [
{
"tissue": {
"name": "Adult mammalian kidney",
"namespace": "UBERON",
"id": "0000082",
"url": "http://purl.obolibrary.org/obo/UBERON_0000082"
},
"score": "89.07",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000100462",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000100462"
}
]
},
{
"tissue": {
"name": "Oral cavity",
"namespace": "UBERON",
"id": "0000167",
"url": "http://purl.obolibrary.org/obo/UBERON_0000167"
},
"score": "86.83",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000100462",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000100462"
}
]
},
{
"tissue": {
"name": "Stomach",
"namespace": "UBERON",
"id": "0000945",
"url": "http://purl.obolibrary.org/obo/UBERON_0000945"
},
"score": "88.91",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000100462",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000100462"
}
]
},
{
"tissue": {
"name": "Uterus",
"namespace": "UBERON",
"id": "0000995",
"url": "http://purl.obolibrary.org/obo/UBERON_0000995"
},
"score": "65.22",
"present": "MEDIUM",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000100462",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000100462"
}
]
},
{
"tissue": {
"name": "Esophagus",
"namespace": "UBERON",
"id": "0001043",
"url": "http://purl.obolibrary.org/obo/UBERON_0001043"
},
"score": "94.12",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000100462",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000100462"
}
]
},
{
"tissue": {
"name": "Rectum",
"namespace": "UBERON",
"id": "0001052",
"url": "http://purl.obolibrary.org/obo/UBERON_0001052"
},
"score": "94.56",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000100462",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000100462"
}
]
},
{
"tissue": {
"name": "Colon",
"namespace": "UBERON",
"id": "0001155",
"url": "http://purl.obolibrary.org/obo/UBERON_0001155"
},
"score": "81.15",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000100462",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000100462"
}
]
},
{
"tissue": {
"name": "Urinary bladder",
"namespace": "UBERON",
"id": "0001255",
"url": "http://purl.obolibrary.org/obo/UBERON_0001255"
},
"score": "89.26",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000100462",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000100462"
}
]
},
{
"tissue": {
"name": "Thyroid gland",
"namespace": "UBERON",
"id": "0002046",
"url": "http://purl.obolibrary.org/obo/UBERON_0002046"
},
"score": "93.28",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000100462",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000100462"
}
]
},
{
"tissue": {
"name": "Lung",
"namespace": "UBERON",
"id": "0002048",
"url": "http://purl.obolibrary.org/obo/UBERON_0002048"
},
"score": "76.38",
"present": "MEDIUM",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000100462",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000100462"
}
]
},
{
"tissue": {
"name": "Liver",
"namespace": "UBERON",
"id": "0002107",
"url": "http://purl.obolibrary.org/obo/UBERON_0002107"
},
"score": "86.22",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000100462",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000100462"
}
]
},
{
"tissue": {
"name": "Prostate gland",
"namespace": "UBERON",
"id": "0002367",
"url": "http://purl.obolibrary.org/obo/UBERON_0002367"
},
"score": "93.15",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000100462",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000100462"
}
]
},
{
"tissue": {
"name": "Thoracic mammary gland",
"namespace": "UBERON",
"id": "0005200",
"url": "http://purl.obolibrary.org/obo/UBERON_0005200"
},
"score": "92.05",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000100462",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000100462"
}
]
}
],
"expression_disease": [
{
"significant": "Yes",
"trend": "up",
"name": "Prostate cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:10283",
"evidence": [
{
"database": "BioXpress",
"id": "O14744",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14744"
}
],
"disease": [
{
"disease_id": "DOID:10283",
"recommended_name": {
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "prostate cancer",
"description": "A male reproductive organ cancer that is located_in the prostate."
},
"synonyms": [
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "NGP - new growth of prostate",
"description": ""
},
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "hereditary prostate cancer",
"description": ""
},
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "malignant tumor of the prostate",
"description": ""
},
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "prostate cancer, familial",
"description": ""
},
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "prostate neoplasm",
"description": ""
},
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "prostatic cancer",
"description": ""
},
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "prostatic neoplasm",
"description": ""
},
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "tumor of the prostate",
"description": ""
},
{
"id": "MONDO:0012597",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012597",
"name": "prostate cancer, hereditary, 9",
"description": ""
},
{
"id": "MONDO:0012597",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012597",
"name": "prostate cancer, hereditary, 9",
"description": ""
},
{
"id": "MONDO:0012597",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012597",
"name": "prostate cancer, hereditary, type 9",
"description": ""
},
{
"id": "MONDO:0012597",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012597",
"name": "HPC9",
"description": ""
},
{
"id": "MONDO:0012741",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012741",
"name": "prostate cancer, hereditary, 12",
"description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene."
},
{
"id": "MONDO:0012741",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012741",
"name": "EHBP1 familial prostate cancer",
"description": ""
},
{
"id": "MONDO:0012741",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012741",
"name": "familial prostate cancer caused by mutation in EHBP1",
"description": ""
},
{
"id": "MONDO:0012741",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012741",
"name": "prostate cancer, hereditary, 12",
"description": ""
},
{
"id": "MONDO:0012741",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012741",
"name": "prostate cancer, hereditary, type 12",
"description": ""
},
{
"id": "MONDO:0012741",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012741",
"name": "HPC12",
"description": ""
},
{
"id": "MONDO:0012244",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012244",
"name": "prostate cancer, hereditary, 5",
"description": ""
},
{
"id": "MONDO:0012244",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012244",
"name": "prostate cancer, hereditary, 5",
"description": ""
},
{
"id": "MONDO:0012244",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012244",
"name": "prostate cancer, hereditary, type 5",
"description": ""
},
{
"id": "MONDO:0012244",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012244",
"name": "HPC5",
"description": ""
},
{
"id": "MONDO:0012093",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012093",
"name": "prostate cancer, hereditary, 3",
"description": ""
},
{
"id": "MONDO:0012093",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012093",
"name": "prostate cancer, hereditary, 3",
"description": ""
},
{
"id": "MONDO:0012093",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012093",
"name": "prostate cancer, hereditary, type 3",
"description": ""
},
{
"id": "MONDO:0012093",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012093",
"name": "prostate cancer, susceptibility to, 3",
"description": ""
},
{
"id": "MONDO:0012093",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012093",
"name": "HPC3",
"description": ""
},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "prostate cancer, hereditary, 4",
"description": ""
},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "prostate cancer, hereditary, 4",
"description": ""
},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "prostate cancer, hereditary, type 4",
"description": ""
},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "prostate cancer, susceptibility to, 4",
"description": ""
},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "HPC4",
"description": ""
},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "prostate cancer, hereditary, on chromosome 7",
"description": ""
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "prostate cancer, hereditary, 13",
"description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene."
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "MSMB familial prostate cancer",
"description": ""
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "familial prostate cancer caused by mutation in MSMB",
"description": ""
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "prostate cancer, hereditary, 13",
"description": ""
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "prostate cancer, hereditary, type 13",
"description": ""
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "HPC13",
"description": ""
},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "prostate cancer, hereditary, 8",
"description": ""
},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "prostate cancer, hereditary, 8",
"description": ""
},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "prostate cancer, hereditary, type 8",
"description": ""
},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "HPC8",
"description": ""
},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "predisposing for prostate cancer",
"description": ""
},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "prostate cancer, susceptibility to",
"description": ""
},
{
"id": "MONDO:0012300",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012300",
"name": "prostate cancer, hereditary, 6",
"description": ""
},
{
"id": "MONDO:0012300",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012300",
"name": "prostate cancer, hereditary, 6",
"description": ""
},
{
"id": "MONDO:0012300",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012300",
"name": "prostate cancer, hereditary, type 6",
"description": ""
},
{
"id": "MONDO:0012300",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012300",
"name": "HPC6",
"description": ""
},
{
"id": "MONDO:0012300",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012300",
"name": "prostate cancer, susceptibility to",
"description": ""
},
{
"id": "MONDO:0012620",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012620",
"name": "prostate cancer, hereditary, 10",
"description": ""
},
{
"id": "MONDO:0012620",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012620",
"name": "HPC10",
"description": ""
},
{
"id": "MONDO:0012620",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012620",
"name": "prostate cancer, hereditary, 10",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "familial prostate carcinoma",
"description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma."
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "familial prostate cancer",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "hereditary prostate cancer",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "hereditary prostate carcinoma",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, somatic",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, familial",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, hereditary",
"description": ""
},
{
"id": "MONDO:0012470",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012470",
"name": "prostate cancer, hereditary, 7",
"description": ""
},
{
"id": "MONDO:0012470",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012470",
"name": "HPC7",
"description": ""
},
{
"id": "MONDO:0012470",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012470",
"name": "prostate cancer, hereditary, 7",
"description": ""
},
{
"id": "MONDO:0012470",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012470",
"name": "prostate cancer aggressiveness",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "prostate cancer, hereditary, 1",
"description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene."
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "RNASEL familial prostate cancer",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "familial prostate cancer caused by mutation in RNASEL",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "prostate cancer 1",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "prostate cancer, hereditary, 1",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "prostate cancer, hereditary, type 1",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "HPC1",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "Prca1",
"description": ""
},
{
"id": "MONDO:0012768",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012768",
"name": "prostate cancer, hereditary, 11",
"description": ""
},
{
"id": "MONDO:0012768",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012768",
"name": "HPC11",
"description": ""
},
{
"id": "MONDO:0012768",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012768",
"name": "prostate cancer, hereditary, 11",
"description": ""
},
{
"id": "MONDO:0012769",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012769",
"name": "prostate cancer, hereditary, 14",
"description": ""
},
{
"id": "MONDO:0012769",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012769",
"name": "HPC14",
"description": ""
},
{
"id": "MONDO:0012769",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012769",
"name": "prostate cancer, hereditary, 14",
"description": ""
},
{
"id": "MONDO:0012770",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012770",
"name": "prostate cancer, hereditary, 15",
"description": ""
},
{
"id": "MONDO:0012770",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012770",
"name": "HPC15",
"description": ""
},
{
"id": "MONDO:0012770",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012770",
"name": "prostate cancer, hereditary, 15",
"description": ""
},
{
"id": "MONDO:0010257",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010257",
"name": "prostate cancer, hereditary, X-linked 1",
"description": ""
},
{
"id": "MONDO:0010257",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010257",
"name": "HPCX1",
"description": ""
},
{
"id": "MONDO:0010257",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010257",
"name": "prostate cancer, hereditary, X-linked 1",
"description": ""
},
{
"id": "MONDO:0010257",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010257",
"name": "prostate cancer susceptibility, X-linked",
"description": ""
},
{
"id": "MONDO:0010405",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010405",
"name": "prostate cancer, hereditary, X-linked 2",
"description": ""
},
{
"id": "MONDO:0010405",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010405",
"name": "HPCX2",
"description": ""
},
{
"id": "MONDO:0010405",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010405",
"name": "prostate cancer, hereditary, X-linked 2",
"description": ""
},
{
"id": "MIM:611868",
"resource": "MIM",
"url": "https://www.omim.org/entry/611868",
"name": "Prostate cancer, hereditary, 12",
"description": "Prostate cancer, hereditary, 12"
},
{
"id": "MIM:611928",
"resource": "MIM",
"url": "https://www.omim.org/entry/611928",
"name": "Prostate cancer, hereditary, 13",
"description": "Prostate cancer, hereditary, 13"
},
{
"id": "MIM:176807",
"resource": "MIM",
"url": "https://www.omim.org/entry/176807",
"name": "Prostate cancer",
"description": "Prostate cancer"
},
{
"id": "MIM:601518",
"resource": "MIM",
"url": "https://www.omim.org/entry/601518",
"name": "Prostate cancer, hereditary, 1",
"description": "Prostate cancer, hereditary, 1"
},
{
"id": "MIM:611955",
"resource": "MIM",
"url": "https://www.omim.org/entry/611955",
"name": "Prostate cancer, hereditary, 11",
"description": "Prostate cancer, hereditary, 11"
}
]
}
]
},
{
"significant": "Yes",
"trend": "up",
"name": "Stomach cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:10534",
"evidence": [
{
"database": "BioXpress",
"id": "O14744",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14744"
}
],
"disease": [
{
"disease_id": "DOID:10534",
"recommended_name": {
"id": "DOID:10534",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10534",
"name": "stomach cancer",
"description": "A gastrointestinal system cancer that is located_in the stomach."
},
"synonyms": [
{
"id": "DOID:10534",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10534",
"name": "gastric cancer",
"description": ""
},
{
"id": "DOID:10534",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10534",
"name": "gastric neoplasm",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "gastric cancer",
"description": "A primary or metastatic malignant neoplasm involving the stomach."
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "gastric neoplasm",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "Ca lesser curvature - stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "cancer of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "gastric cancer",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "gastric cancer risk after h. pylori infection",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "gastric cancer, somatic",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant gastric neoplasm",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant gastric tumor",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant gastric tumour",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant neoplasm of lesser curve of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant neoplasm of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant neoplasm of the stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant stomach neoplasm",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumor of body of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumor of greater curve of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumor of lesser curve of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumor of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumor of the stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumour of body of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumour of greater curve of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumour of lesser curve of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumour of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumour of the stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "stomach cancer",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "Ca body - stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "ca greater curvature of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant neoplasm of body of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "gastric cancer, intestinal",
"description": ""
},
{
"id": "MIM:613659",
"resource": "MIM",
"url": "https://www.omim.org/entry/613659",
"name": "Gastric cancer",
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}
]
}
]
},
{
"significant": "No",
"trend": "up",
"name": "Urinary bladder cancer [DO disease name]",
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{
"database": "BioXpress",
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{
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{
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{
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"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "urinary bladder cancer",
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},
{
"id": "MONDO:0001187",
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{
"id": "MONDO:0001187",
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},
{
"id": "MONDO:0001187",
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},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
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},
{
"id": "MONDO:0001187",
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},
{
"id": "MONDO:0001187",
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"name": "malignant bladder tumor",
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},
{
"id": "MONDO:0001187",
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"name": "malignant bladder tumour",
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},
{
"id": "MONDO:0001187",
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"name": "malignant neoplasm of bladder",
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},
{
"id": "MONDO:0001187",
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{
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},
{
"id": "MONDO:0001187",
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},
{
"id": "MONDO:0001187",
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},
{
"id": "MONDO:0001187",
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{
"id": "MONDO:0001187",
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},
{
"id": "MONDO:0001187",
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},
{
"id": "MONDO:0001187",
"resource": "MONDO",
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},
{
"id": "MONDO:0001187",
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},
{
"id": "MONDO:0001187",
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"name": "malignant tumor, urinary bladder",
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},
{
"id": "MONDO:0001187",
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"name": "malignant tumour of bladder",
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},
{
"id": "MONDO:0001187",
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{
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},
{
"id": "MONDO:0001187",
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},
{
"id": "MONDO:0001187",
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{
"id": "MONDO:0001187",
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{
"id": "MONDO:0001187",
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},
{
"id": "MONDO:0001187",
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},
{
"id": "MONDO:0001187",
"resource": "MONDO",
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},
{
"id": "MONDO:0001187",
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},
{
"id": "MONDO:0001187",
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},
{
"id": "MIM:109800",
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]
}
]
},
{
"significant": "No",
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{
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},
{
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]
}
]
},
{
"significant": "Yes",
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{
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{
"id": "MONDO:0012159",
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{
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{
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},
{
"id": "MONDO:0012942",
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{
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},
{
"id": "MONDO:0012942",
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},
{
"id": "MONDO:0012942",
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},
{
"id": "MONDO:0012955",
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},
{
"id": "MONDO:0012955",
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"name": "LNCR4",
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},
{
"id": "MONDO:0012955",
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},
{
"id": "MONDO:0013631",
"resource": "MONDO",
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},
{
"id": "MONDO:0013631",
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},
{
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},
{
"id": "MONDO:0008903",
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},
{
"id": "MONDO:0008903",
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},
{
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},
{
"id": "MONDO:0008903",
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},
{
"id": "MONDO:0008903",
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},
{
"id": "MONDO:0008903",
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},
{
"id": "MONDO:0008903",
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},
{
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},
{
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},
{
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},
{
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},
{
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},
{
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},
{
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{
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},
{
"id": "MONDO:0008903",
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{
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{
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{
"id": "MONDO:0008903",
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{
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{
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{
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{
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"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "alveolar cell carcinoma",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, protection against",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung neoplasm",
"description": ""
},
{
"id": "MIM:211980",
"resource": "MIM",
"url": "https://www.omim.org/entry/211980",
"name": "Lung cancer",
"description": "Lung cancer"
}
]
}
]
},
{
"significant": "Yes",
"trend": "up",
"name": "Breast cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:1612",
"evidence": [
{
"database": "BioXpress",
"id": "O14744",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14744"
}
],
"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": "O14744",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14744"
}
],
"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": "O14744",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14744"
}
],
"disease": [
{
"disease_id": "DOID:263",
"recommended_name": {
"id": "DOID:263",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:263",
"name": "kidney cancer",
"description": "A urinary system cancer that is located_in the kidney."
},
"synonyms": [
{
"id": "DOID:263",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:263",
"name": "malignant neoplasm of kidney except pelvis",
"description": ""
},
{
"id": "DOID:263",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:263",
"name": "malignant tumour of kidney",
"description": ""
},
{
"id": "DOID:263",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:263",
"name": "renal cancer",
"description": ""
}
]
}
]
},
{
"significant": "Yes",
"trend": "up",
"name": "Liver cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:3571",
"evidence": [
{
"database": "BioXpress",
"id": "O14744",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14744"
}
],
"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": "O14744",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14744"
}
],
"disease": [
{
"disease_id": "DOID:363",
"recommended_name": {
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "uterine cancer",
"description": "A female reproductive organ cancer that is located_in the uterus."
},
"synonyms": [
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "CA - cancer of uterus",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "Tumour of uterus",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "malignant neoplasm of uterus",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "malignant uterine tumor",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "neoplasm of uterus",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "uterine tumor",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "uterus neoplasm",
"description": ""
}
]
}
]
},
{
"significant": "Yes",
"trend": "up",
"name": "Esophageal cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:5041",
"evidence": [
{
"database": "BioXpress",
"id": "O14744",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14744"
}
],
"disease": [
{
"disease_id": "DOID:5041",
"recommended_name": {
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "esophageal cancer",
"description": "A gastrointestinal system cancer that is located_in the esophagus."
},
"synonyms": [
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "Ca lower third oesophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "Ca middle third oesophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "esophagus cancer",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant neoplasm of distal third of esophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant neoplasm of lower third of oesophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant neoplasm of middle third of oesophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant neoplasm of proximal third of esophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant neoplasm of upper third esophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant tumor of Distal Third of esophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant tumor of Proximal Third of esophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant tumor of abdominal esophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant tumor of the middle Third of the esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophageal cancer",
"description": "A primary or metastatic malignant neoplasm involving the esophagus."
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "cancer of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "cancer of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophageal cancer",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophageal cancer, somatic",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophageal carcinoma, somatic",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophageal squamous cell carcinoma, somatic",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophagus cancer",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant esophageal neoplasm",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant esophageal tumor",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant esophageal tumour",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant esophagus neoplasm",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant esophagus tumor",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of the esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of the oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant oesophagus neoplasm",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant oesophagus tumour",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumor of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumor of the esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
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]
}
},
{
"isoform_ac": "G3V507-1",
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"length": 42,
"header": "tr|G3V507-1|ANM5_HUMAN Computationally mapped isoform of Protein arginine N-methyltransferase 5 OS=Homo sapiens OX=9606 GN=PRMT5 PE=1 SV=1 CANONICAL=O14744-1"
},
"locus": {
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"id": "ENST00000627278.1",
"url": "https://www.ensembl.org/id/ENST00000627278.1"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000485787.1",
"url": "https://www.ensembl.org/id/ENSP00000485787.1"
}
]
}
},
{
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"sequence": {
"sequence": "MAAMAVGGAGGSRVSSGRDLNCVPEIADTLGAVAKQGFDFLCMPVFHPRFKREFIQEPAKNRPGPQTRSDLLLSGRDWNTLIVGKLSPWIRPDSKVEKIRRNSEAFWMRVPLVAPEDLRDDIIENAPTTHTEEYSGEEKTWMWWHNFRTLCDYSKRIAVALEIGADLPSNHVIDRWLGEP",
"length": 180,
"header": "tr|G3V580-1|G3V580_HUMAN Computationally mapped isoform of Protein arginine methyltransferase 5 OS=Homo sapiens OX=9606 GN=PRMT5 PE=1 SV=1 CANONICAL=O14744-1"
},
"locus": {
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"start_pos": 22929361,
"end_pos": 22926235,
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"database": "Ensembl Transcript",
"id": "ENST00000554867.5",
"url": "https://www.ensembl.org/id/ENST00000554867.5"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000452218.1",
"url": "https://www.ensembl.org/id/ENSP00000452218.1"
}
]
}
},
{
"isoform_ac": "G3V5L5-1",
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"sequence": {
"sequence": "MPVFHPRFKREFIQEPAKNRPGPQTRSDLLLSGRDWNTLIVGKLSPWIRPDSKVEKIRRNSEAAMLQELNFGAYLGLPAFLLPLNQEDNTNLARVLTNHIHTGHHSSMFWMRVPLVAPEDLRDDIIENAPTTHTEEYSGEEKTWMWWHNFRTLCDYSKRIAVALEIGAD",
"length": 169,
"header": "tr|G3V5L5-1|ANM5_HUMAN Computationally mapped isoform of Protein arginine N-methyltransferase 5 OS=Homo sapiens OX=9606 GN=PRMT5 PE=1 SV=8 CANONICAL=O14744-1"
},
"locus": {
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"start_pos": 22928599,
"end_pos": 22926277,
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"id": "ENST00000554910.5",
"url": "https://www.ensembl.org/id/ENST00000554910.5"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000452411.1",
"url": "https://www.ensembl.org/id/ENSP00000452411.1"
}
]
}
},
{
"isoform_ac": "G3V5T6-1",
"url": "",
"sequence": {
"sequence": "MHQRLIFRLLKLEVQFIITGTNHHSEKEFCSYLQYLEYLSQNRPPPNAYELFAKGYEDYLQSPLQPLMDNLESQTYEVFEKDPIKYSQYQQAIYKCLLDRVPEE",
"length": 104,
"header": "tr|G3V5T6-1|G3V5T6_HUMAN Computationally mapped isoform of Protein arginine methyltransferase 5 OS=Homo sapiens OX=9606 GN=PRMT5 PE=1 SV=1 CANONICAL=O14744-1"
},
"locus": {
"chromosome": "14",
"start_pos": 22926165,
"end_pos": 22924499,
"strand": "+",
"evidence": [
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"database": "Ensembl Transcript",
"id": "ENST00000556043.5",
"url": "https://www.ensembl.org/id/ENST00000556043.5"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000452509.1",
"url": "https://www.ensembl.org/id/ENSP00000452509.1"
}
]
}
},
{
"isoform_ac": "H0YJ77-1",
"url": "",
"sequence": {
"sequence": "SQLEVQFIITGTNHHSEKEFCSYLQYLEYLSQNRPPPNAYELFAKGYEDYLQSPLQPLMDNLESQTYEVFEKDPIKYSQYQQAIYKCLLDRVPEEEKDTNVQVLMVLGAGRGPLVNASLRAAKQADRRIKLLENWQFE",
"length": 138,
"header": "tr|H0YJ77-1|H0YJ77_HUMAN Computationally mapped isoform of Protein arginine methyltransferase 5 OS=Homo sapiens OX=9606 GN=PRMT5 PE=1 SV=1 CANONICAL=O14744-1"
},
"locus": {
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"start_pos": 22925046,
"end_pos": 22924162,
"strand": "+",
"evidence": [
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"database": "Ensembl Transcript",
"id": "ENST00000553502.5",
"url": "https://www.ensembl.org/id/ENST00000553502.5"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000450956.1",
"url": "https://www.ensembl.org/id/ENSP00000450956.1"
}
]
}
},
{
"isoform_ac": "H0YJD3-1",
"url": "",
"sequence": {
"sequence": "ENWQFEEWGSQVTVVSSDMREWVAPEKADIIVSELLGSFADNELSPECLDGAQHFLKDDGVSIPGEYTSFLAPISSSKLYNEVRACREKDRDPEAQFEMPYVVRLHNFHQLSAPQPCFTFSHPNRDPMIDNNRYCTLEFPVEVNTVLHGFAGYFETVLYQDITLSIRPETHSPGISP",
"length": 177,
"header": "tr|H0YJD3-1|H0YJD3_HUMAN Computationally mapped isoform of Protein arginine methyltransferase 5 OS=Homo sapiens OX=9606 GN=PRMT5 PE=1 SV=1 CANONICAL=O14744-1"
},
"locus": {
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"start_pos": 22924179,
"end_pos": 22921050,
"strand": "+",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000555454.5",
"url": "https://www.ensembl.org/id/ENST00000555454.5"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000451245.1",
"url": "https://www.ensembl.org/id/ENSP00000451245.1"
}
]
}
},
{
"isoform_ac": "H0YJX6-1",
"url": "",
"sequence": {
"sequence": "RRNSEAAMLQELNFGAYLGLPAFLLPLNQEDNTNLARVLTNHIHTGHHSSMFWMRVPLVAPEDLRDDIIENAPTTHTEEYSGEEKTWMWWHNFRTLCDYTLEIGADLPSNHVIDRWLGEPIKAAILPTSIFLTNKKGFPVLSKMHQRLIFRLLKLEVQFIITGTNHHSEKEFCSYLQYLEYLSQNRPPPNAYELFAKGYEDYLQSPLQPLMDNLESQTYEVFEKDPIKYSQYQQAIYKCLLDRVPEEEKDTNVQVLMVLGAGRGPLVNASLRAAKQADR",
"length": 279,
"header": "tr|H0YJX6-1|H0YJX6_HUMAN Computationally mapped isoform of Protein arginine methyltransferase 5 OS=Homo sapiens OX=9606 GN=PRMT5 PE=1 SV=1 CANONICAL=O14744-1"
},
"locus": {
"chromosome": "14",
"start_pos": 22928143,
"end_pos": 22924317,
"strand": "+",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000555530.5",
"url": "https://www.ensembl.org/id/ENST00000555530.5"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000452409.1",
"url": "https://www.ensembl.org/id/ENSP00000452409.1"
}
]
}
},
{
"isoform_ac": "H0YJY6-1",
"url": "",
"sequence": {
"sequence": "XIRPETHSPGMFSWFPILFPIKQPITVREGQTICVRFWRCSNSKKGSSHQSMKTSGQGVRN",
"length": 61,
"header": "tr|H0YJY6-1|ANM5_HUMAN Computationally mapped isoform of Protein arginine N-methyltransferase 5 OS=Homo sapiens OX=9606 GN=PRMT5 PE=1 SV=1 CANONICAL=O14744-1"
},
"locus": {
"chromosome": "14",
"start_pos": 22922240,
"end_pos": 22920683,
"strand": "+",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000557443.5",
"url": "https://www.ensembl.org/id/ENST00000557443.5"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000452501.1",
"url": "https://www.ensembl.org/id/ENSP00000452501.1"
}
]
}
},
{
"isoform_ac": "H7BZ44-1",
"url": "",
"sequence": {
"sequence": "XDDGVSIPGEYTSFLAPISSSKLYNEVRACREKDRDPEAQFEMPYVVRLHNFHQLSAPQPCFTFSHPNRDPMIDNNRYCTLEFPVEVNTVLHGFAGYFETVLYQDITLSIRPETHSPGMFSWFPILFPIKPITVREGQTICVRFWRCSNSKKVWYEWAVTAPVCSAIHNPTGRSYTIGL",
"length": 179,
"header": "tr|H7BZ44-1|H7BZ44_HUMAN Computationally mapped isoform of Protein arginine methyltransferase 5 OS=Homo sapiens OX=9606 GN=PRMT5 PE=1 SV=1 CANONICAL=O14744-1"
},
"locus": {
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"start_pos": 22923162,
"end_pos": 22920905,
"strand": "+",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000454731.6",
"url": "https://www.ensembl.org/id/ENST00000454731.6"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000387663.2",
"url": "https://www.ensembl.org/id/ENSP00000387663.2"
}
]
}
},
{
"isoform_ac": "O14744-1",
"url": "",
"sequence": {
"sequence": "MAAMAVGGAGGSRVSSGRDLNCVPEIADTLGAVAKQGFDFLCMPVFHPRFKREFIQEPAKNRPGPQTRSDLLLSGRDWNTLIVGKLSPWIRPDSKVEKIRRNSEAAMLQELNFGAYLGLPAFLLPLNQEDNTNLARVLTNHIHTGHHSSMFWMRVPLVAPEDLRDDIIENAPTTHTEEYSGEEKTWMWWHNFRTLCDYSKRIAVALEIGADLPSNHVIDRWLGEPIKAAILPTSIFLTNKKGFPVLSKMHQRLIFRLLKLEVQFIITGTNHHSEKEFCSYLQYLEYLSQNRPPPNAYELFAKGYEDYLQSPLQPLMDNLESQTYEVFEKDPIKYSQYQQAIYKCLLDRVPEEEKDTNVQVLMVLGAGRGPLVNASLRAAKQADRRIKLYAVEKNPNAVVTLENWQFEEWGSQVTVVSSDMREWVAPEKADIIVSELLGSFADNELSPECLDGAQHFLKDDGVSIPGEYTSFLAPISSSKLYNEVRACREKDRDPEAQFEMPYVVRLHNFHQLSAPQPCFTFSHPNRDPMIDNNRYCTLEFPVEVNTVLHGFAGYFETVLYQDITLSIRPETHSPGMFSWFPILFPIKQPITVREGQTICVRFWRCSNSKKVWYEWAVTAPVCSAIHNPTGRSYTIGL",
"length": 637,
"header": "sp|O14744-1|ANM5_HUMAN Isoform 1 of Protein arginine N-methyltransferase 5 OS=Homo sapiens OX=9606 GN=PRMT5 PE=1 SV=4 CANONICAL=O14744-1"
},
"locus": {
"chromosome": "14",
"start_pos": 22929361,
"end_pos": 22920907,
"strand": "+",
"evidence": [
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"database": "Ensembl Transcript",
"id": "ENST00000324366.13",
"url": "https://www.ensembl.org/id/ENST00000324366.13"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000319169.8",
"url": "https://www.ensembl.org/id/ENSP00000319169.8"
}
]
}
},
{
"isoform_ac": "O14744-2",
"url": "",
"sequence": {
"sequence": "MRGPNSGTEKGRLVIPEKQGFDFLCMPVFHPRFKREFIQEPAKNRPGPQTRSDLLLSGRDWNTLIVGKLSPWIRPDSKVEKIRRNSEAAMLQELNFGAYLGLPAFLLPLNQEDNTNLARVLTNHIHTGHHSSMFWMRVPLVAPEDLRDDIIENAPTTHTEEYSGEEKTWMWWHNFRTLCDYSKRIAVALEIGADLPSNHVIDRWLGEPIKAAILPTSIFLTNKKGFPVLSKMHQRLIFRLLKLEVQFIITGTNHHSEKEFCSYLQYLEYLSQNRPPPNAYELFAKGYEDYLQSPLQPLMDNLESQTYEVFEKDPIKYSQYQQAIYKCLLDRVPEEEKDTNVQVLMVLGAGRGPLVNASLRAAKQADRRIKLYAVEKNPNAVVTLENWQFEEWGSQVTVVSSDMREWVAPEKADIIVSELLGSFADNELSPECLDGAQHFLKDDGVSIPGEYTSFLAPISSSKLYNEVRACREKDRDPEAQFEMPYVVRLHNFHQLSAPQPCFTFSHPNRDPMIDNNRYCTLEFPVEVNTVLHGFAGYFETVLYQDITLSIRPETHSPGMFSWFPILFPIKQPITVREGQTICVRFWRCSNSKKVWYEWAVTAPVCSAIHNPTGRSYTIGL",
"length": 620,
"header": "sp|O14744-2|ANM5_HUMAN Isoform 2 of Protein arginine N-methyltransferase 5 OS=Homo sapiens OX=9606 GN=PRMT5 PE=1 SV=4 CANONICAL=O14744-1"
},
"locus": {
"chromosome": "14",
"start_pos": 22929225,
"end_pos": 22920907,
"strand": "+",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000397441.6",
"url": "https://www.ensembl.org/id/ENST00000397441.6"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000380583.2",
"url": "https://www.ensembl.org/id/ENSP00000380583.2"
}
]
}
},
{
"isoform_ac": "O14744-3",
"url": "",
"sequence": {
"sequence": "MRGPNSGTEKGRLVIPEKQGFDFLCMPVFHPRFKREFIQEPAKNRPGPQTRSDLLLSGRAFLLPLNQEDNTNLARVLTNHIHTGHHSSMFWMRVPLVAPEDLRDDIIENAPTTHTEEYSGEEKTWMWWHNFRTLCDYSKRIAVALEIGADLPSNHVIDRWLGEPIKAAILPTSIFLTNKKGFPVLSKMHQRLIFRLLKLEVQFIITGTNHHSEKEFCSYLQYLEYLSQNRPPPNAYELFAKGYEDYLQSPLQPLMDNLESQTYEVFEKDPIKYSQYQQAIYKCLLDRVPEEEKDTNVQVLMVLGAGRGPLVNASLRAAKQADRRIKLYAVEKNPNAVVTLENWQFEEWGSQVTVVSSDMREWVAPEKADIIVSELLGSFADNELSPECLDGAQHFLKDDGVSIPGEYTSFLAPISSSKLYNEVRACREKDRDPEAQFEMPYVVRLHNFHQLSAPQPCFTFSHPNRDPMIDNNRYCTLEFPVEVNTVLHGFAGYFETVLYQDITLSIRPETHSPGMFSWFPILFPIKQPITVREGQTICVRFWRCSNSKKVWYEWAVTAPVCSAIHNPTGRSYTIGL",
"length": 576,
"header": "sp|O14744-3|ANM5_HUMAN Isoform 3 of Protein arginine N-methyltransferase 5 OS=Homo sapiens OX=9606 GN=PRMT5 PE=1 SV=4 CANONICAL=O14744-1"
},
"locus": {
"chromosome": "14",
"start_pos": 22929225,
"end_pos": 22920907,
"strand": "+",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000216350.12",
"url": "https://www.ensembl.org/id/ENST00000216350.12"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000216350.8",
"url": "https://www.ensembl.org/id/ENSP00000216350.8"
}
]
}
},
{
"isoform_ac": "O14744-4",
"url": "",
"sequence": {
"sequence": "MRGPNSGTEKGRLVIPEKQGFDFLCMPVFHPRFKREFIQEPAKNRPGPQTRSDLLLSGRDWNTLIVGKLSPWIRPDSKVEKIRRNSEALEVQFIITGTNHHSEKEFCSYLQYLEYLSQNRPPPNAYELFAKGYEDYLQSPLQPLMDNLESQTYEVFEKDPIKYSQYQQAIYKCLLDRVPEEEKDTNVQVLMVLGAGRGPLVNASLRAAKQADRRIKLYAVEKNPNAVVTLENWQFEEWGSQVTVVSSDMREWVAPEKADIIVSELLGSFADNELSPECLDGAQHFLKDDGVSIPGEYTSFLAPISSSKLYNEVRACREKDRDPEAQFEMPYVVRLHNFHQLSAPQPCFTFSHPNRDPMIDNNRYCTLEFPVEVNTVLHGFAGYFETVLYQDITLSIRPETHSPGMFSWFPILFPIKQPITVREGQTICVRFWRCSNSKKVWYEWAVTAPVCSAIHNPTGRSYTIGL",
"length": 466,
"header": "sp|O14744-4|ANM5_HUMAN Isoform 4 of Protein arginine N-methyltransferase 5 OS=Homo sapiens OX=9606 GN=PRMT5 PE=1 SV=4 CANONICAL=O14744-1"
},
"locus": {
"chromosome": "14",
"start_pos": 22929225,
"end_pos": 22920907,
"strand": "+",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000397440.8",
"url": "https://www.ensembl.org/id/ENST00000397440.8"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000380582.4",
"url": "https://www.ensembl.org/id/ENSP00000380582.4"
}
]
}
},
{
"isoform_ac": "O14744-5",
"url": "",
"sequence": {
"sequence": "MAAMAVGGAGGSRVSSGRDLNCVPEIADTLGAVAKQGFDFLCMPVFHPRFKREFIQEPAKNRPGPQTRSDLLLSGRAFLLPLNQEDNTNLARVLTNHIHTGHHSSMFWMRVPLVAPEDLRDDIIENAPTTHTEEYSGEEKTWMWWHNFRTLCDYSKRIAVALEIGADLPSNHVIDRWLGEPIKAAILPTSIFLTNKKGFPVLSKMHQRLIFRLLKLEVQFIITGTNHHSEKEFCSYLQYLEYLSQNRPPPNAYELFAKGYEDYLQSPLQPLMDNLESQTYEVFEKDPIKYSQYQQAIYKCLLDRVPEEEKDTNVQVLMVLGAGRGPLVNASLRAAKQADRRIKLYAVEKNPNAVVTLENWQFEEWGSQVTVVSSDMREWVAPEKADIIVSELLGSFADNELSPECLDGAQHFLKDDGVSIPGEYTSFLAPISSSKLYNEVRACREKDRDPEAQFEMPYVVRLHNFHQLSAPQPCFTFSHPNRDPMIDNNRYCTLEFPVEVNTVLHGFAGYFETVLYQDITLSIRPETHSPGMFSWFPILFPIKQPITVREGQTICVRFWRCSNSKKVWYEWAVTAPVCSAIHNPTGRSYTIGL",
"length": 593,
"header": "sp|O14744-5|ANM5_HUMAN Isoform 5 of Protein arginine N-methyltransferase 5 OS=Homo sapiens OX=9606 GN=PRMT5 PE=1 SV=4 CANONICAL=O14744-1"
},
"locus": {
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"start_pos": 22929361,
"end_pos": 22920907,
"strand": "+",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000553897.5",
"url": "https://www.ensembl.org/id/ENST00000553897.5"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000452555.1",
"url": "https://www.ensembl.org/id/ENSP00000452555.1"
}
]
}
}
],
"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": 69,
"start_aa": "Ser",
"end_pos": 69,
"end_aa": "Ser",
"residue": "Ser",
"site_lbl": "Ser69",
"evidence": [
{
"id": "O14744",
"database": "O-GlcNAc Atlas",
"url": "https://oglcnac.org/atlas/detail/O14744"
},
{
"id": "34105348",
"database": "PubMed",
"url": "https://glygen.org/publication/PubMed/34105348"
}
]
},
{
"glytoucan_ac": "G49108TO",
"type": "O-linked",
"subtype": "O-GlcNAcylation",
"site_category": "reported_with_glycan",
"site_seq": "S",
"relation": "attached",
"comment": "O-GlcNAcylation",
"start_pos": 74,
"start_aa": "Ser",
"end_pos": 74,
"end_aa": "Ser",
"residue": "Ser",
"site_lbl": "Ser74",
"evidence": [
{
"id": "O14744",
"database": "O-GlcNAc Atlas",
"url": "https://oglcnac.org/atlas/detail/O14744"
},
{
"id": "34105348",
"database": "PubMed",
"url": "https://glygen.org/publication/PubMed/34105348"
}
]
},
{
"glytoucan_ac": "G49108TO",
"type": "O-linked",
"subtype": "O-GlcNAcylation",
"site_category": "reported_with_glycan",
"site_seq": "",
"relation": "attached",
"comment": "O-GlcNAcylation",
"evidence": [
{
"id": "O14744",
"database": "O-GlcNAc Database",
"url": "https://www.oglcnac.mcw.edu/search/?query_protein=O14744"
},
{
"id": "23301498",
"database": "PubMed",
"url": "https://glygen.org/publication/PubMed/23301498"
},
{
"id": "35138101",
"database": "PubMed",
"url": "https://glygen.org/publication/PubMed/35138101"
},
{
"id": "34725712",
"database": "PubMed",
"url": "https://glygen.org/publication/PubMed/34725712"
},
{
"id": "37217939",
"database": "PubMed",
"url": "https://glygen.org/publication/PubMed/37217939"
},
{
"id": "32119511",
"database": "PubMed",
"url": "https://glygen.org/publication/PubMed/32119511"
},
{
"id": "34105348",
"database": "PubMed",
"url": "https://glygen.org/publication/PubMed/34105348"
}
]
}
],
"phosphorylation": [
{
"start_pos": 12,
"end_pos": 12,
"kinase_uniprot_canonical_ac": "",
"kinase_gene_name": "",
"residue": "Ser",
"comment": "",
"evidence": [
{
"database": "iPTMnet",
"id": "O14744",
"url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O14744"
},
{
"database": "PubMed",
"id": "19651622",
"url": "https://glygen.org/publication/PubMed/19651622"
}
],
"site_lbl": "Ser12"
},
{
"start_pos": 15,
"end_pos": 15,
"kinase_uniprot_canonical_ac": "",
"kinase_gene_name": "",
"residue": "Ser",
"comment": "",
"evidence": [
{
"database": "iPTMnet",
"id": "O14744",
"url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O14744"
},
{
"database": "PubMed",
"id": "28074910",
"url": "https://glygen.org/publication/PubMed/28074910"
},
{
"database": "PubMed",
"id": "32456215",
"url": "https://glygen.org/publication/PubMed/32456215"
}
],
"site_lbl": "Ser15"
},
{
"start_pos": 16,
"end_pos": 16,
"kinase_uniprot_canonical_ac": "",
"kinase_gene_name": "",
"residue": "Ser",
"comment": "",
"evidence": [
{
"database": "iPTMnet",
"id": "O14744",
"url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O14744"
},
{
"database": "PubMed",
"id": "28074910",
"url": "https://glygen.org/publication/PubMed/28074910"
}
],
"site_lbl": "Ser16"
},
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"pmid": ""
},
{
"name": "identical protein binding",
"id": "GO:0042802",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802",
"evidence": [
{
"database": "UniProtKB",
"id": "O14744",
"url": "https://www.uniprot.org/uniprot/O14744"
}
],
"pmid": ""
},
{
"name": "ribonucleoprotein complex binding",
"id": "GO:0043021",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043021",
"evidence": [
{
"database": "UniProtKB",
"id": "O14744",
"url": "https://www.uniprot.org/uniprot/O14744"
}
],
"pmid": ""
},
{
"name": "protein heterodimerization activity",
"id": "GO:0046982",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046982",
"evidence": [
{
"database": "UniProtKB",
"id": "O14744",
"url": "https://www.uniprot.org/uniprot/O14744"
}
],
"pmid": ""
},
{
"name": "transcription corepressor activity",
"id": "GO:0003714",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003714",
"evidence": [
{
"database": "UniProtKB",
"id": "O14744",
"url": "https://www.uniprot.org/uniprot/O14744"
}
],
"pmid": ""
},
{
"name": "methyltransferase activity",
"id": "GO:0008168",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008168",
"evidence": [
{
"database": "UniProtKB",
"id": "O14744",
"url": "https://www.uniprot.org/uniprot/O14744"
}
],
"pmid": ""
},
{
"name": "methyl-CpG binding",
"id": "GO:0008327",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008327",
"evidence": [
{
"database": "UniProtKB",
"id": "O14744",
"url": "https://www.uniprot.org/uniprot/O14744"
}
],
"pmid": ""
},
{
"name": "histone methyltransferase activity",
"id": "GO:0042054",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042054",
"evidence": [
{
"database": "UniProtKB",
"id": "O14744",
"url": "https://www.uniprot.org/uniprot/O14744"
}
],
"pmid": ""
},
{
"name": "histone H4R3 methyltransferase activity",
"id": "GO:0044020",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044020",
"evidence": [
{
"database": "UniProtKB",
"id": "O14744",
"url": "https://www.uniprot.org/uniprot/O14744"
}
],
"pmid": ""
},
{
"name": "histone arginine N-methyltransferase activity",
"id": "GO:0008469",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008469",
"evidence": [
{
"database": "UniProtKB",
"id": "O14744",
"url": "https://www.uniprot.org/uniprot/O14744"
}
],
"pmid": ""
},
{
"name": "E-box binding",
"id": "GO:0070888",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070888",
"evidence": [
{
"database": "UniProtKB",
"id": "O14744",
"url": "https://www.uniprot.org/uniprot/O14744"
}
],
"pmid": ""
},
{
"name": "p53 binding",
"id": "GO:0002039",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002039",
"evidence": [
{
"database": "UniProtKB",
"id": "O14744",
"url": "https://www.uniprot.org/uniprot/O14744"
}
],
"pmid": ""
},
{
"name": "histone H3 methyltransferase activity",
"id": "GO:0140938",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140938",
"evidence": [
{
"database": "UniProtKB",
"id": "O14744",
"url": "https://www.uniprot.org/uniprot/O14744"
}
],
"pmid": ""
}
]
},
{
"name": "Biological Process",
"total": 19,
"go_terms": [
{
"name": "methylation",
"id": "GO:0032259",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032259",
"evidence": [
{
"database": "UniProtKB",
"id": "O14744",
"url": "https://www.uniprot.org/uniprot/O14744"
}
],
"pmid": ""
},
{
"name": "positive regulation of mRNA splicing, via spliceosome",
"id": "GO:0048026",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048026",
"evidence": [
{
"database": "UniProtKB",
"id": "O14744",
"url": "https://www.uniprot.org/uniprot/O14744"
}
],
"pmid": ""
},
{
"name": "chromatin remodeling",
"id": "GO:0006338",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006338",
"evidence": [
{
"database": "UniProtKB",
"id": "O14744",
"url": "https://www.uniprot.org/uniprot/O14744"
}
],
"pmid": ""
},
{
"name": "positive regulation of oligodendrocyte differentiation",
"id": "GO:0048714",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048714",
"evidence": [
{
"database": "UniProtKB",
"id": "O14744",
"url": "https://www.uniprot.org/uniprot/O14744"
}
],
"pmid": ""
},
{
"name": "regulation of DNA-templated transcription",
"id": "GO:0006355",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355",
"evidence": [
{
"database": "UniProtKB",
"id": "O14744",
"url": "https://www.uniprot.org/uniprot/O14744"
}
],
"pmid": ""
},
{
"name": "regulation of signal transduction by p53 class mediator",
"id": "GO:1901796",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901796",
"evidence": [
{
"database": "UniProtKB",
"id": "O14744",
"url": "https://www.uniprot.org/uniprot/O14744"
}
],
"pmid": ""
},
{
"name": "peptidyl-arginine methylation",
"id": "GO:0018216",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018216",
"evidence": [
{
"database": "UniProtKB",
"id": "O14744",
"url": "https://www.uniprot.org/uniprot/O14744"
}
],
"pmid": ""
},
{
"name": "endothelial cell activation",
"id": "GO:0042118",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042118",
"evidence": [
{
"database": "UniProtKB",
"id": "O14744",
"url": "https://www.uniprot.org/uniprot/O14744"
}
],
"pmid": ""
},
{
"name": "negative regulation of cell differentiation",
"id": "GO:0045596",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045596",
"evidence": [
{
"database": "UniProtKB",
"id": "O14744",
"url": "https://www.uniprot.org/uniprot/O14744"
}
],
"pmid": ""
},
{
"name": "circadian regulation of gene expression",
"id": "GO:0032922",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032922",
"evidence": [
{
"database": "UniProtKB",
"id": "O14744",
"url": "https://www.uniprot.org/uniprot/O14744"
}
],
"pmid": ""
},
{
"name": "spliceosomal snRNP assembly",
"id": "GO:0000387",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000387",
"evidence": [
{
"database": "UniProtKB",
"id": "O14744",
"url": "https://www.uniprot.org/uniprot/O14744"
}
],
"pmid": ""
},
{
"name": "DNA-templated transcription termination",
"id": "GO:0006353",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006353",
"evidence": [
{
"database": "UniProtKB",
"id": "O14744",
"url": "https://www.uniprot.org/uniprot/O14744"
}
],
"pmid": ""
},
{
"name": "regulation of mitotic nuclear division",
"id": "GO:0007088",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007088",
"evidence": [
{
"database": "UniProtKB",
"id": "O14744",
"url": "https://www.uniprot.org/uniprot/O14744"
}
],
"pmid": ""
},
{
"name": "peptidyl-arginine N-methylation",
"id": "GO:0035246",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035246",
"evidence": [
{
"database": "UniProtKB",
"id": "O14744",
"url": "https://www.uniprot.org/uniprot/O14744"
}
],
"pmid": ""
},
{
"name": "regulation of DNA methylation",
"id": "GO:0044030",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044030",
"evidence": [
{
"database": "UniProtKB",
"id": "O14744",
"url": "https://www.uniprot.org/uniprot/O14744"
}
],
"pmid": ""
},
{
"name": "regulation of ERK1 and ERK2 cascade",
"id": "GO:0070372",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070372",
"evidence": [
{
"database": "UniProtKB",
"id": "O14744",
"url": "https://www.uniprot.org/uniprot/O14744"
}
],
"pmid": ""
},
{
"name": "Golgi ribbon formation",
"id": "GO:0090161",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090161",
"evidence": [
{
"database": "UniProtKB",
"id": "O14744",
"url": "https://www.uniprot.org/uniprot/O14744"
}
],
"pmid": ""
},
{
"name": "liver regeneration",
"id": "GO:0097421",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097421",
"evidence": [
{
"database": "UniProtKB",
"id": "O14744",
"url": "https://www.uniprot.org/uniprot/O14744"
}
],
"pmid": ""
},
{
"name": "positive regulation of adenylate cyclase-inhibiting dopamine receptor signaling pathway",
"id": "GO:1904992",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904992",
"evidence": [
{
"database": "UniProtKB",
"id": "O14744",
"url": "https://www.uniprot.org/uniprot/O14744"
}
],
"pmid": ""
}
]
},
{
"name": "Cellular Component",
"total": 8,
"go_terms": [
{
"name": "nucleus",
"id": "GO:0005634",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634",
"evidence": [
{
"database": "UniProtKB",
"id": "O14744",
"url": "https://www.uniprot.org/uniprot/O14744"
}
],
"pmid": ""
},
{
"name": "nucleoplasm",
"id": "GO:0005654",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654",
"evidence": [
{
"database": "UniProtKB",
"id": "O14744",
"url": "https://www.uniprot.org/uniprot/O14744"
}
],
"pmid": ""
},
{
"name": "cytoplasm",
"id": "GO:0005737",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737",
"evidence": [
{
"database": "UniProtKB",
"id": "O14744",
"url": "https://www.uniprot.org/uniprot/O14744"
}
],
"pmid": ""
},
{
"name": "Golgi apparatus",
"id": "GO:0005794",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794",
"evidence": [
{
"database": "UniProtKB",
"id": "O14744",
"url": "https://www.uniprot.org/uniprot/O14744"
}
],
"pmid": ""
},
{
"name": "cytosol",
"id": "GO:0005829",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829",
"evidence": [
{
"database": "UniProtKB",
"id": "O14744",
"url": "https://www.uniprot.org/uniprot/O14744"
}
],
"pmid": ""
},
{
"name": "chromatin",
"id": "GO:0000785",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000785",
"evidence": [
{
"database": "UniProtKB",
"id": "O14744",
"url": "https://www.uniprot.org/uniprot/O14744"
}
],
"pmid": ""
},
{
"name": "methylosome",
"id": "GO:0034709",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034709",
"evidence": [
{
"database": "UniProtKB",
"id": "O14744",
"url": "https://www.uniprot.org/uniprot/O14744"
}
],
"pmid": ""
},
{
"name": "histone methyltransferase complex",
"id": "GO:0035097",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035097",
"evidence": [
{
"database": "UniProtKB",
"id": "O14744",
"url": "https://www.uniprot.org/uniprot/O14744"
}
],
"pmid": ""
}
]
}
]
},
"pro_annotation": [],
"site_annotation": [
{
"start_pos": 373,
"end_pos": 375,
"annotation": "n_glycosylation_sequon"
}
],
"ptm_annotation": [],
"interactions": [],
"reactions": [
{
"id": "48108",
"name": "",
"equation": "L-arginyl-[protein] + 2 S-adenosyl-L-methionine = 2 H(+) + N(omega),N(omega)'-dimethyl-L-arginyl-[protein] + 2 S-adenosyl-L-homocysteine",
"summary": "",
"cellular_location": "",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"Q5XI79-1",
"D4A0E8-1",
"A0A8I6AKW7-1",
"O14744-1",
"Q6P2P2-1",
"Q7L592-1",
"Q8CIG8-1",
"Q3U3W5-1",
"Q9CWG8-1",
"P38274-1",
"P36052-1",
"Q54XU0-1",
"Q54KI3-1",
"Q54S83-1",
"Q9VGR2-1"
],
"evidence": [
{
"id": "48108",
"database": "Rhea",
"url": "https://www.rhea-db.org/rhea/48108"
}
]
},
{
"id": "R-HSA-191790",
"name": "Loading and methylation of Sm proteins onto SMN Complexes",
"equation": "",
"summary": "The survival of motor neurons (SMN) complex binds to Sm proteins and small nuclear RNAs (snRNAs) in the cytoplasm. Sm is part the SMN multiprotein complex that contains Gemins 2 \u2013 7, including the DEAD-box RNA helicase Gemin3. The binding of the SMN complex to the snRNAs depends on the presence of specific, high-affinity (nanomolar) binding domains in the snRNAs. The SMN complex binds the Sm proteins through the Sm domains interaction with the Gemins, the TUDOR domain, and through unique arginine- and glycine-rich (RG) domains found in three of these, SmB, SmD1 and SmD3. The association with RG domains is strongly enhanced by the post-translational symmetric dimethylation of specific arginines in these domains, a process that is carried out by the methylosome (JBP1 or PRMT5) complex.",
"cellular_location": "cytosol",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"O14744-1",
"Q9UHI6-1"
],
"evidence": [
{
"id": "R-HSA-191790",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-191790"
}
]
},
{
"id": "R-HSA-3215385",
"name": "CDK4 in CCND1:CDK4:PRMT5:WDR77 phosphorylates WDR77",
"equation": "",
"summary": "Phosphorylation of WDR77 (MEP50) on threonine-5 by cyclin-dependent kinase 4 (CDK4), as part of the complex cyclin D1: CDK4:PRMT5:WDR77 enhances PRMT5:WDR77 methyltransferase activity, which triggers events associated with cyclin D1-dependent neoplastic growth (Aggarwal et al. 2011). Cyclin D1 is an allosteric regulator of CDK4 and CDK6, mediating growth factor-dependent G1-phase progression. Growth factor stimulation induces cyclin D1 expression, its association with CDK4 and nuclear accumulation during mid-G1. Active cyclin D1:CDK4 catalyzes the phosphorylation-dependent inactivation of retinoblastoma (RB) family proteins (Diehl 2002, Gladden & Diehl 2005). Following the G1/S transition, cyclin D1 accumulation is opposed by phosphorylation of threonine-286 (T286) by glycogen synthase kinase 3 beta (GSK3beta), which promotes cyclin D1 nuclear export (Alt et al. 2000).",
"cellular_location": "nucleoplasm",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"O14744-1",
"P11802-1"
],
"evidence": [
{
"id": "R-HSA-3215385",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3215385"
}
]
},
{
"id": "R-HSA-3215391",
"name": "PRMT5 is tyrosine phosphorylated by JAK2 V617F",
"equation": "",
"summary": "Tyrosine phosphorylation of PRMT5 can block WDR77 (MEP50) binding, which attenuates PRMT5 activity (Liu et al. 2011). The kinase JAK2 is constitutively activated by the mutation V617F, observed in most patients with non-chronic myelogenous leukemia (nCML) myeloproliferative neoplasms (MPNs) (Liu et al. 2011). JAK2 V617F can phosphorylate STAT5 in the absence of upstream signals, which confers cytokine-independent growth to Ba/F3 cells and induces a myeloproliferative disease in mouse models (Akada et al. 2010, Marty et al., 2010, Mullally et al. 2010). JAK2 V617F phosphorylates PRMT5 predominantly at tyrosines 297, 304, and 307, significantly reducing the activity-enhancing interaction between PRMT5 and WDR77 (MEP50) (Liu et al. 2011).",
"cellular_location": "nucleoplasm",
"input_participant_list": [
"R-HSA-5205609"
],
"output_participant_list": [
"R-HSA-5211300"
],
"enzyme_list": [
"O60674-1",
"O14744-1"
],
"evidence": [
{
"id": "R-HSA-3215391",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3215391"
}
]
},
{
"id": "R-HSA-3215406",
"name": "PRMT5 binds WDR77",
"equation": "",
"summary": "In mammalian cells, PRMT5 is tightly bound by WDR77 (MEP50). This interaction is required for PRMT5 activity (Friesen et al. 2002). The structure of PRMT5 and WDR77 (MEP50) was determined, bound to an S-adenosylmethionine analog and a peptide substrate derived from histone H4. The structure reveals a hetero-octameric complex formation, with close interaction between the seven-bladed beta-propeller WDR77 (MEP50) and the N-terminal domain of human PRMT5 (Antonysamy et al. 2012, Ho et al. 2013) JAK2 mutation V617F casues JAK2 to be constitutively activated. One outcome is increased tyrosine phosphorylation of PRMT5. This phosphorylation inhibits the binding of PRMT5 to WDR77, which is an enhancer of PRMT5 methyltransferase activity.",
"cellular_location": "nucleoplasm",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"O14744-1"
],
"evidence": [
{
"id": "R-HSA-3215406",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3215406"
}
]
},
{
"id": "R-HSA-3215426",
"name": "COPRS binds CCND1:CDK4:PRMT5:pT5-WDR77",
"equation": "",
"summary": "The histone-binding protein cooperator of PRMT5 (COPRS) guides PRMT5:WDR77 to methylate histone H4 arginine-4 (H4R3) rather than histone H3 arginine-9 (H3R8) (Lacroix et al. 2008).",
"cellular_location": "nucleoplasm",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"O14744-1",
"P11802-1"
],
"evidence": [
{
"id": "R-HSA-3215426",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3215426"
}
]
},
{
"id": "R-HSA-3215448",
"name": "SWI/SNF chromatin remodelling complex enhances MEP50:PRMT5 methyltransferase activity",
"equation": "",
"summary": "The hSWI/SNF chromatin remodelling complex can be found in association with PRMT5:WDR77, enhancing its methyltransferase activity towards histone substrates. Histone H3 arginine-9 (H3R8) and histone H4 arginine-4 (H4R3) are the preferred methylation sites of hSWI/SNF-associated PRMT5 (Pal et al. 2004).
SWI/SNF complexes are a family of ATP-dependent chromatin remodelling complexes involved in the activation and repression of gene transcription. They generate nucleosomes with altered positions, nucleosomes with DNA loops and nucleosomes that are capable of exchanging histone dimers or octamers (Racki & Narlikar 2008).
The core of the hSWI/SNF complex contains SMARCA4 (BRG1/BAF190A) or SMARCA2 (hBrm/BAF190B), SMARCC1 (BAF155), SMARCC2 (BAF170) and SMARCB1 (INI1) plus a variable number of additional subunits (Wang et al. 1996, Phelan et al. 1999, Reisman et al. 2009). SMARCA4 or SMARCA2 are the catalytic ATPase subunits. SMARCC1 and SMARCC2 are 62% identical to each other at the protein level (Wang et al. 1996). Loss of the SMARCB1 subunit (SWI/SNF-related matrix associated actin dependent regulator of chromatin B1) is a recurrent genetic characteristic of malignant rhabdoid tumor (MRT), a rare and aggressive pediatric cancer (Versteege et al. 1998, Biegel et al.1999). SMARCB1 mouse knockouts cause early embryonic lethality; heterozygous loss predisposes mice to MRT-like tumors (Klochendler-Yeivin et al. 2000, Roberts et al. 2000, Guidi et al. 2001). Actin and actin-related proteins found in hSWI/SNF complexes and are believed to facilitate nuclear matrix association (Zhao et al. 1998, Rando et al. 2002).",
"cellular_location": "nucleoplasm",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"O14744-1",
"P51531-1",
"P51532-1"
],
"evidence": [
{
"id": "R-HSA-3215448",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3215448"
}
]
},
{
"id": "R-HSA-5205799",
"name": "CCND1:CDK4:PRMT5:pT5-WDR77 methylates arginine-9 of histone H3 (H3R8)",
"equation": "",
"summary": "Histone H3 arginine-9 (H3R8) dimethylation is a PRMT5-specific mark (Pal et al. 2004) associated with gene silencing (Chen et al. 1999, Pal et al. 2004, 2007).",
"cellular_location": "nucleoplasm",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"O14744-1",
"P51531-1",
"P51532-1",
"P11802-1"
],
"evidence": [
{
"id": "R-HSA-5205799",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5205799"
}
]
},
{
"id": "R-HSA-5205861",
"name": "COPRS:CCND1:CDK4:PRMT5:pT5-WDR77 methylates arginine-4 of histone H4 (H4R3)",
"equation": "",
"summary": "PRMT5 can methylate histone H4 at arginine-4 (H4R3)and histone H2A at arginine-4 (H2AR3) (Pal et al. 2004). Symmetric dimethylation of histone H4 arginine-4 (H4R3me2s) by PRMT5 is required for subsequent DNA methylation. The histone-binding protein Cooperator of PRMT5 (COPRS) guides PRMT5:WDR77 to methylate histone H4 arginine-4 (H4R3) rather than histone H3 arginine-9 (H3R8) (Lacroix et al. 2008). H4R3me2s serves as a direct binding target for the DNA methyltransferase DNMT3A, which interacts through the ADD domain, which contains a PHD motif (Zhao et al. 2009).",
"cellular_location": "nucleoplasm",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"O14744-1",
"P51531-1",
"P51532-1",
"P11802-1"
],
"evidence": [
{
"id": "R-HSA-5205861",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5205861"
}
]
},
{
"id": "R-HSA-5216234",
"name": "PRMT5:pT5-WDR77 methylates arginine-4 of histone H2A (H2AR3)",
"equation": "",
"summary": "PRMT5 can methylate histone H2A at arginine-4 (H2AR3) (Pal et al. 2004). The histone-binding protein cooperator of PRMT5 (COPRS) guides PRMT5:WDR77 to methylate histone H4 arginine-4 (H4R3) rather than histone H3 arginine-9 (H3R8) (Lacroix et al. 2008) and may also be responsible for guiding PRMT5:WDR77 to methylate histone H2A arginine-4 (H2AR3).",
"cellular_location": "nucleoplasm",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"O14744-1",
"P11802-1"
],
"evidence": [
{
"id": "R-HSA-5216234",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5216234"
}
]
},
{
"id": "R-HSA-5218952",
"name": "PRMT5:WDR77, PRMT7 methylate arginine-3 of histone H3 (H3R2)",
"equation": "",
"summary": "Histone H3 is symmetrically dimethylated on arginine-3 by PRMT5 and PRMT7 (Migliori et al. 2012, Tsai et al. 2013). This excludes binding of RBBP7, a central component of the co-repressor complexes Sin3a, NURD and PRC2. Conversely Me2sR3-histone H3 enhances binding of WDR5, a common component of the coactivator complexes MLL, SET1A, SET1B, NLS1 and ATAC. The interaction of histone H3 with WDR5 distinguishes symmetric dimethylation of arginine-3 from asymmetric dimethylation, which inhibits the recruitment of WDR5 to chromatin (Guccione et al. 2007, Hyllus et al. 2007, Migliori et al. 2012).",
"cellular_location": "nucleoplasm",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"O14744-1",
"Q9NVM4-1"
],
"evidence": [
{
"id": "R-HSA-5218952",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5218952"
}
]
},
{
"id": "R-HSA-5661117",
"name": "CCND1:CDK4:PRMT5:pT5-WDR77 methylates methyl-arginine-9 of histone H3",
"equation": "",
"summary": "Histone H3 arginine-9 (H3R8) dimethylation is a PRMT5-specific mark (Pal et al. 2004) associated with gene silencing (Chen et al. 1999, Pal et al. 2004, 2007).",
"cellular_location": "nucleoplasm",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"O14744-1",
"P11802-1"
],
"evidence": [
{
"id": "R-HSA-5661117",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5661117"
}
]
},
{
"id": "R-HSA-6804379",
"name": "PRMT5 binds TTC5",
"equation": "",
"summary": "TTC5 (Strap) recruits protein arginine methyltransferase PRMT5 to TP53 (p53) (Jansson et al. 2008).",
"cellular_location": "nucleoplasm",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"O14744-1",
"Q09472-1"
],
"evidence": [
{
"id": "R-HSA-6804379",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6804379"
}
]
},
{
"id": "R-HSA-6804383",
"name": "PRMT5 methylates TP53",
"equation": "",
"summary": "Protein arginine methyltransferase PRMT5, recruited to TP53 (p53) by TTC5 (Strap), monomethylates TP53 on arginine residue R333 and dimethylates TP53 arginine residues R335 and R337. PRMT5-mediated methylation of TP53 modulates the affinity of TP53 for target promoters, promoting expression of cell cycle arrest genes rather than cell death genes (Jansson et al. 2008).",
"cellular_location": "nucleoplasm",
"input_participant_list": [],
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"O14744-1",
"Q09472-1"
],
"evidence": [
{
"id": "R-HSA-6804383",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6804383"
}
]
}
],
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{
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