{ "uniprot_canonical_ac": "O95405-1", "uniprot_ac": "O95405", "uniprot_id": "ZFYV9_HUMAN", "mass": { "chemical_mass": 156403.0, "monoisotopic_mass": 156403.0 }, "refseq": { "ac": "NP_004790", "name": "zinc finger FYVE domain-containing protein 9 isoform 3", "summary": "This gene encodes a double zinc finger motif-containing protein that participates in the transforming growth factor-beta (TGFB) signalling pathway. The encoded protein interacts directly with SMAD2 and SMAD3, and recruits SMAD2 to the TGFB receptor. There are multiple pseudogenes for this gene on chromosomes 2, 15, and X. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004790" }, "gene_names": [ { "name": "ZFYVE9", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O95405", "id": "O95405" }, { "name": "MADHIP; NSP; PPP1R173; SARA; SMADIP", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004790", "id": "NP_004790" }, { "name": "MADHIP", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O95405", "id": "O95405" }, { "name": "SARA", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O95405", "id": "O95405" }, { "name": "SMADIP", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O95405", "id": "O95405" }, { "name": "ZFYVE9", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004790", "id": "NP_004790" } ], "protein_names": [ { "name": "Zinc finger FYVE domain-containing protein 9", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O95405" }, { "name": "MAD, mothers against decapentaplegic homolog interacting protein, receptor activation anchor; smad anchor for receptor activation; MADH-interacting protein; novel serine protease; zinc finger, FYVE domain containing 9; zinc finger FYVE domain-containing protein 9; protein phosphatase 1, regulatory subunit 173", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004790", "id": "NP_004790" }, { "name": "Madh-interacting protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95405" }, { "name": "Mothers against decapentaplegic homolog-interacting protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95405" }, { "name": "NSP", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95405" }, { "name": "Novel serine protease", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95405" }, { "name": "Receptor activation anchor", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95405" }, { "name": "Smad anchor for receptor activation", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95405" }, { "name": "hSARA", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95405" }, { "name": "zinc finger FYVE domain-containing protein 9 isoform 3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004790", "id": "NP_004790" } ], "function": [ { "annotation": "Early endosomal protein that functions to recruit SMAD2/SMAD3 to intracellular membranes and to the TGF-beta receptor. Plays a significant role in TGF-mediated signaling by regulating the subcellular location of SMAD2 and SMAD3 and modulating the transcriptional activity of the SMAD3/SMAD4 complex. Possibly associated with TGF-beta receptor internalization.", "evidence": [ { "database": "UniProtKB", "id": "O95405", "url": "https://www.uniprot.org/uniprot/O95405#function" }, { "database": "PubMed", "id": "15356634", "url": "https://glygen.org/publication/PubMed/15356634" }, { "database": "PubMed", "id": "9865696", "url": "https://glygen.org/publication/PubMed/9865696" } ] }, { "annotation": "Expression of a SARA mutant protein lacking the FYVE finger inhibits downstream activin A signaling in endothelial cells.", "evidence": [ { "database": "RefSeq", "id": "NP_004790", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004790" }, { "database": "PubMed", "id": "11877415", "url": "https://glygen.org/publication/PubMed/11877415" } ] }, { "annotation": "Longitudinal changes of SARA scale in Friedreich ataxia: Strong influence of baseline score and age at onset.", "evidence": [ { "database": "RefSeq", "id": "NP_004790", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004790" }, { "database": "PubMed", "id": "37641437", "url": "https://glygen.org/publication/PubMed/37641437" } ] }, { "annotation": "SARA expression was significantly upregulated in the temporal cortex of patients with temporal lobe epilepsy.", "evidence": [ { "database": "RefSeq", "id": "NP_004790", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004790" }, { "database": "PubMed", "id": "30847724", "url": "https://glygen.org/publication/PubMed/30847724" } ] }, { "annotation": "SMURF2 and SMAD7 induce SARA degradation via the proteasome.", "evidence": [ { "database": "RefSeq", "id": "NP_004790", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004790" }, { "database": "PubMed", "id": "32283253", "url": "https://glygen.org/publication/PubMed/32283253" } ] }, { "annotation": "This gene encodes a double zinc finger motif-containing protein that participates in the transforming growth factor-beta (TGFB) signalling pathway. The encoded protein interacts directly with SMAD2 and SMAD3, and recruits SMAD2 to the TGFB receptor. There are multiple pseudogenes for this gene on chromosomes 2, 15, and X. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013].", "evidence": [ { "database": "RefSeq", "id": "NP_004790", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004790" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs1385994422", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1385994422" }, { "id": "rs1385994422", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1385994422#frequency_tab" }, { "id": "rs1385994422", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1385994422" }, { "id": "22842228", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22842228" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1247, "end_pos": 1247, "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DFT->NFT).", "chr_id": "1", "chr_pos": "52337840", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D1247", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs1553127749", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1553127749" }, { "id": "rs1553127749", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1553127749" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 219, "end_pos": 219, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NRP->NRS).", "chr_id": "1", "chr_pos": "52238072", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P219", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1393578874", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1393578874" }, { "id": "rs1393578874", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1393578874" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 263, "end_pos": 263, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SLT->NLT).", "chr_id": "1", "chr_pos": "52238205", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S263", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1440679520", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1440679520" }, { "id": "rs1440679520", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1440679520" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 270, "end_pos": 270, "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (ISS->NSS).", "chr_id": "1", "chr_pos": "52238226", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I270", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1243575029", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1243575029" }, { "id": "rs1243575029", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1243575029" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 288, "end_pos": 288, "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NYI->NYT).", "chr_id": "1", "chr_pos": "52238280", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I288", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1264605962", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1264605962" }, { "id": "rs1264605962", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1264605962#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 292, "end_pos": 292, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DLT->NLT).", "chr_id": "1", "chr_pos": "52238291", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D292", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs765202773", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765202773" }, { "id": "rs765202773", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765202773" }, { "id": "rs765202773", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs765202773" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 310, "end_pos": 310, "sequence_org": "F", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NSF->NSS).", "chr_id": "1", "chr_pos": "52238346", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F310", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1474820964", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1474820964" }, { "id": "rs1474820964", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1474820964#frequency_tab" }, { "id": "rs1474820964", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1474820964" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 392, "end_pos": 392, "sequence_org": "H", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (HFS->NFS).", "chr_id": "1", "chr_pos": "52238591", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H392", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1259234266", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1259234266" }, { "id": "rs1259234266", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1259234266" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 398, "end_pos": 398, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DMT->NMT).", "chr_id": "1", "chr_pos": "52238609", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D398", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1211754747", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1211754747" }, { "id": "rs1211754747", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1211754747" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 39, "end_pos": 39, "sequence_org": "I", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NKI->NKS).", "chr_id": "1", "chr_pos": "52237533", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I39", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs539725244", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs539725244" }, { "id": "rs539725244", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs539725244" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 455, "end_pos": 455, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SES->NES).", "chr_id": "1", "chr_pos": "52238781", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S455", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O95405", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O95405" }, { "id": "rs1464470142", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1464470142" }, { "id": "rs1464470142", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1464470142" }, { "id": "rs1464470142", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1464470142#frequency_tab" }, { "id": "rs1464470142", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1464470142" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 511, "end_pos": 511, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (SKS->NKS).", "chr_id": "1", "chr_pos": "52238949", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S511", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, 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"" }, { "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 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"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 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"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, 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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": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O95405", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95405" } ], "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", 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"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", 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"MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", 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"https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O95405", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95405" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "O95405", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95405" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "O95405", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95405" } ], "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": "O95405", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95405" } ], "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": "O95405", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95405" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "O95405", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95405" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "O95405", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95405" } ], "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": 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"https://www.ebi.ac.uk/interpro/entry/IPR013083", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR017455", "url": "https://www.ebi.ac.uk/interpro/entry/IPR017455", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR022557", "url": "https://www.ebi.ac.uk/interpro/entry/IPR022557", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR024608", "url": "https://www.ebi.ac.uk/interpro/entry/IPR024608", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR035438", "url": "https://www.ebi.ac.uk/interpro/entry/IPR035438", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR037145", "url": "https://www.ebi.ac.uk/interpro/entry/IPR037145", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:9372", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:9372", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "603755", "url": "http://www.omim.org/entry/603755", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O95405", "url": "https://www.nextprot.org/entry/NX_O95405", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "O95405", "url": "https://oglcnac.org/atlas/detail/O95405", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "O95405", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O95405", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "IPPNCGG", "url": "https://omabrowser.org/oma/group/IPPNCGG/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "3061552at2759", "url": "http://www.orthodb.org/?query=3061552at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR46319", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR46319", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR46319:SF2", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR46319:SF2", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "1DEV", "url": "https://www.rcsb.org/structure/1DEV", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1MK2", "url": "https://www.rcsb.org/structure/1MK2", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4BKW", "url": "https://www.rcsb.org/structure/4BKW", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5MJY", "url": "https://www.rcsb.org/structure/5MJY", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF01363", "url": "http://pfam.xfam.org/family/PF01363", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF11409", "url": "http://pfam.xfam.org/family/PF11409", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF11979", "url": "http://pfam.xfam.org/family/PF11979", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O95405", "url": "https://pharos.nih.gov/targets/O95405", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O95405", "url": "http://purl.obolibrary.org/obo/PR_O95405", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_004790", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004790", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "O95405", "url": "https://www.uniprot.org/uniprot/O95405", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95405-1", "url": "https://www.uniprot.org/uniprot/O95405-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95405-2", "url": "https://www.uniprot.org/uniprot/O95405-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95405-3", "url": "https://www.uniprot.org/uniprot/O95405-3", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MENYFQAEAYNLDKVLDEFEQNEDETVSSTLLDTKWNKILDPPSHRLSFNPTLASVNESAVSNESQPQLKVFSLAHSAPLTTEEEDHCANGQDCNLNPEIATMWIDENAVAEDQLIKRNYSWDDQCSAVEVGEKKCGNLACLPDEKNVLVVAVMHNCDKRTLQNDLQDCNNYNSQSLMDAFSCSLDNENRQTDQFSFSINESTEKDMNSEKQMDPLNRPKTEGRSVNHLCPTSSDSLASVCSPSQLKDDGSIGRDPSMSAITSLTVDSVISSQGTDGCPAVKKQENYIPDEDLTGKISSPRTDLGSPNSFSHMSEGILMKKEPAEESTTEESLRSGLPLLLKPDMPNGSGRNNDCERCSDCLVPNEVRADENEGYEHEETLGTTEFLNMTEHFSESQDMTNWKLTKLNEMNDSQVNEEKEKFLQISQPEDTNGDSGGQCVGLADAGLDLKGTCISESEECDFSTVIDTPAANYLSNGCDSYGMQDPGVSFVPKTLPSKEDSVTEEKEIEESKSECYSNIYEQRGNEATEGSGLLLNSTGDLMKKNYLHNFCSQVPSVLGQSSPKVVASLPSISVPFGGARPKQPSNLKLQIPKPLSDHLQNDFPANSGNNTKNKNDILGKAKLGENSATNVCSPSLGNISNVDTNGEHLESYEAEISTRPCLALAPDSPDNDLRAGQFGISARKPFTTLGEVAPVWVPDSQAPNCMKCEARFTFTKRRHHCRACGKVFCASCCSLKCKLLYMDRKEARVCVICHSVLMNAQAWENMMSASSQSPNPNNPAEYCSTIPPLQQAQASGALSSPPPTVMVPVGVLKHPGAEVAQPREQRRVWFADGILPNGEVADAAKLTMNGTSSAGTLAVSHDPVKPVTTSPLPAETDICLFSGSITQVGSPVGSAMNLIPEDGLPPILISTGVKGDYAVEEKPSQISVMQQLEDGGPDPLVFVLNANLLSMVKIVNYVNRKCWCFTTKGMHAVGQSEIVILLQCLPDEKCLPKDIFNHFVQLYRDALAGNVVSNLGHSFFSQSFLGSKEHGGFLYVTSTYQSLQDLVLPTPPYLFGILIQKWETPWAKVFPIRLMLRLGAEYRLYPCPLFSVRFRKPLFGETGHTIMNLLADFRNYQYTLPVVQGLVVDMEVRKTSIKIPSNRYNEMMKAMNKSNEHVLAGGACFNEKADSHLVCVQNDDGNYQTQAISIHNQPRKVTGASFFVFSGALKSSSGYLAKSSIVEDGVMVQITAENMDSLRQALREMKDFTITCGKADAEEPQEHIHIQWVDDDKNVSKGVVSPIDGKSMETITNVKIFHGSEYKANGKVIRWTEVFFLENDDQHNCLSDPADHSRLTEHVAKAFCLALCPHLKLLKEDGMTKLGLRVTLDSDQVGYQAGSNGQPLPSQYMNDLDSALVPVIHGGACQLSEGPVVMELIFYILENIV", "length": 1425, "header": "sp|O95405-1|ZFYV9_HUMAN Isoform 1 of Zinc finger FYVE domain-containing protein 9 OS=Homo sapiens OX=9606 GN=ZFYVE9 PE=1 SV=2 CANONICAL=O95405-1" }, "isoforms": [ { "isoform_ac": "O95405-1", "url": "", "sequence": { "sequence": "MENYFQAEAYNLDKVLDEFEQNEDETVSSTLLDTKWNKILDPPSHRLSFNPTLASVNESAVSNESQPQLKVFSLAHSAPLTTEEEDHCANGQDCNLNPEIATMWIDENAVAEDQLIKRNYSWDDQCSAVEVGEKKCGNLACLPDEKNVLVVAVMHNCDKRTLQNDLQDCNNYNSQSLMDAFSCSLDNENRQTDQFSFSINESTEKDMNSEKQMDPLNRPKTEGRSVNHLCPTSSDSLASVCSPSQLKDDGSIGRDPSMSAITSLTVDSVISSQGTDGCPAVKKQENYIPDEDLTGKISSPRTDLGSPNSFSHMSEGILMKKEPAEESTTEESLRSGLPLLLKPDMPNGSGRNNDCERCSDCLVPNEVRADENEGYEHEETLGTTEFLNMTEHFSESQDMTNWKLTKLNEMNDSQVNEEKEKFLQISQPEDTNGDSGGQCVGLADAGLDLKGTCISESEECDFSTVIDTPAANYLSNGCDSYGMQDPGVSFVPKTLPSKEDSVTEEKEIEESKSECYSNIYEQRGNEATEGSGLLLNSTGDLMKKNYLHNFCSQVPSVLGQSSPKVVASLPSISVPFGGARPKQPSNLKLQIPKPLSDHLQNDFPANSGNNTKNKNDILGKAKLGENSATNVCSPSLGNISNVDTNGEHLESYEAEISTRPCLALAPDSPDNDLRAGQFGISARKPFTTLGEVAPVWVPDSQAPNCMKCEARFTFTKRRHHCRACGKVFCASCCSLKCKLLYMDRKEARVCVICHSVLMNAQAWENMMSASSQSPNPNNPAEYCSTIPPLQQAQASGALSSPPPTVMVPVGVLKHPGAEVAQPREQRRVWFADGILPNGEVADAAKLTMNGTSSAGTLAVSHDPVKPVTTSPLPAETDICLFSGSITQVGSPVGSAMNLIPEDGLPPILISTGVKGDYAVEEKPSQISVMQQLEDGGPDPLVFVLNANLLSMVKIVNYVNRKCWCFTTKGMHAVGQSEIVILLQCLPDEKCLPKDIFNHFVQLYRDALAGNVVSNLGHSFFSQSFLGSKEHGGFLYVTSTYQSLQDLVLPTPPYLFGILIQKWETPWAKVFPIRLMLRLGAEYRLYPCPLFSVRFRKPLFGETGHTIMNLLADFRNYQYTLPVVQGLVVDMEVRKTSIKIPSNRYNEMMKAMNKSNEHVLAGGACFNEKADSHLVCVQNDDGNYQTQAISIHNQPRKVTGASFFVFSGALKSSSGYLAKSSIVEDGVMVQITAENMDSLRQALREMKDFTITCGKADAEEPQEHIHIQWVDDDKNVSKGVVSPIDGKSMETITNVKIFHGSEYKANGKVIRWTEVFFLENDDQHNCLSDPADHSRLTEHVAKAFCLALCPHLKLLKEDGMTKLGLRVTLDSDQVGYQAGSNGQPLPSQYMNDLDSALVPVIHGGACQLSEGPVVMELIFYILENIV", "length": 1425, "header": "sp|O95405-1|ZFYV9_HUMAN Isoform 1 of Zinc finger FYVE domain-containing protein 9 OS=Homo sapiens OX=9606 GN=ZFYVE9 PE=1 SV=2 CANONICAL=O95405-1" }, "locus": { "chromosome": "1", "start_pos": 52346218, "end_pos": 52233207, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000371591.2", "url": "https://www.ensembl.org/id/ENST00000371591.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000360647.1", "url": "https://www.ensembl.org/id/ENSP00000360647.1" } ] } }, { "isoform_ac": "O95405-2", "url": "", "sequence": { "sequence": "MENYFQAEAYNLDKVLDEFEQNEDETVSSTLLDTKWNKILDPPSHRLSFNPTLASVNESAVSNESQPQLKVFSLAHSAPLTTEEEDHCANGQDCNLNPEIATMWIDENAVAEDQLIKRNYSWDDQCSAVEVGEKKCGNLACLPDEKNVLVVAVMHNCDKRTLQNDLQDCNNYNSQSLMDAFSCSLDNENRQTDQFSFSINESTEKDMNSEKQMDPLNRPKTEGRSVNHLCPTSSDSLASVCSPSQLKDDGSIGRDPSMSAITSLTVDSVISSQGTDGCPAVKKQENYIPDEDLTGKISSPRTDLGSPNSFSHMSEGILMKKEPAEESTTEESLRSGLPLLLKPDMPNGSGRNNDCERCSDCLVPNEVRADENEGYEHEETLGTTEFLNMTEHFSESQDMTNWKLTKLNEMNDSQVNEEKEKFLQISQPEDTNGDSGGQCVGLADAGLDLKGTCISESEECDFSTVIDTPAANYLSNGCDSYGMQDPGVSFVPKTLPSKEDSVTEEKEIEESKSECYSNIYEQRGNEATEGSGLLLNSTGDLMKKNYLHNFCSQVPSVLGQSSPKVVASLPSISVPFGGARPKQPSNLKLQIPKPLSDHLQNDFPANSGNNTKNKNDILGKAKLGENSATNVCSPSLGNISNVDTNGEHLESYEAEISTRPCLALAPDSPDNDLRAGQFGISARKPFTTLGEVAPVWVPDSQAPNCMKCEARFTFTKRRHHCRACGKVFCASCCSLKCKLLYMDRKEARVCVICHSVLMNVAQPREQRRVWFADGILPNGEVADAAKLTMNGTSSAGTLAVSHDPVKPVTTSPLPAETDICLFSGSITQVGSPVGSAMNLIPEDGLPPILISTGVKGDYAVEEKPSQISVMQQLEDGGPDPLVFVLNANLLSMVKIVNYVNRKCWCFTTKGMHAVGQSEIVILLQCLPDEKCLPKDIFNHFVQLYRDALAGNVVSNLGHSFFSQSFLGSKEHGGFLYVTSTYQSLQDLVLPTPPYLFGILIQKWETPWAKVFPIRLMLRLGAEYRLYPCPLFSVRFRKPLFGETGHTIMNLLADFRNYQYTLPVVQGLVVDMEVRKTSIKIPSNRYNEMMKAMNKSNEHVLAGGACFNEKADSHLVCVQNDDGNYQTQAISIHNQPRKVTGASFFVFSGALKSSSGYLAKSSIVEDGVMVQITAENMDSLRQALREMKDFTITCGKADAEEPQEHIHIQWVDDDKNVSKGVVSPIDGKSMETITNVKIFHGSEYKANGKVIRWTEVFFLENDDQHNCLSDPADHSRLTEHVAKAFCLALCPHLKLLKEDGMTKLGLRVTLDSDQVGYQAGSNGQPLPSQYMNDLDSALVPVIHGGACQLSEGPVVMELIFYILENIV", "length": 1366, "header": "sp|O95405-2|ZFYV9_HUMAN Isoform 2 of Zinc finger FYVE domain-containing protein 9 OS=Homo sapiens OX=9606 GN=ZFYVE9 PE=1 SV=2 CANONICAL=O95405-1" }, "locus": { "chromosome": "1", "start_pos": 52346218, "end_pos": 52233207, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000357206.6", "url": "https://www.ensembl.org/id/ENST00000357206.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000349737.2", "url": "https://www.ensembl.org/id/ENSP00000349737.2" } ] } }, { "isoform_ac": "O95405-3", "url": "", "sequence": { "sequence": "MENYFQAEAYNLDKVLDEFEQNEDETVSSTLLDTKWNKILDPPSHRLSFNPTLASVNESAVSNESQPQLKVFSLAHSAPLTTEEEDHCANGQDCNLNPEIATMWIDENAVAEDQLIKRNYSWDDQCSAVEVGEKKCGNLACLPDEKNVLVVAVMHNCDKRTLQNDLQDCNNYNSQSLMDAFSCSLDNENRQTDQFSFSINESTEKDMNSEKQMDPLNRPKTEGRSVNHLCPTSSDSLASVCSPSQLKDDGSIGRDPSMSAITSLTVDSVISSQGTDGCPAVKKQENYIPDEDLTGKISSPRTDLGSPNSFSHMSEGILMKKEPAEESTTEESLRSGLPLLLKPDMPNGSGRNNDCERCSDCLVPNEVRADENEGYEHEETLGTTEFLNMTEHFSESQDMTNWKLTKLNEMNDSQVNEEKEKFLQISQPEDTNGDSGGQCVGLADAGLDLKGTCISESEECDFSTVIDTPAANYLSNGCDSYGMQDPGVSFVPKTLPSKEDSVTEEKEIEESKSECYSNIYEQRGNEATEGSGLLLNSTGDLMKKNYLHNFCSQVPSVLGQSSPKVVASLPSISVPFGGARPKQPSNLKLQIPKPLSDHLQNDFPANSGNNTKNKNDILGKAKLGENSATNVCSPSLGNISNVDTNGEHLESYEAEISTRPCLALAPDSPDNDLRAGQFGISARKPFTTLGEVAPVWVPDSQAPNCMKCEARFTFTKRRHHCRACGKVFCASCCSLKCKLLYMDRKEARVCVICHSVLMNGKY", "length": 762, "header": "sp|O95405-3|ZFYV9_HUMAN Isoform 3 of Zinc finger FYVE domain-containing protein 9 OS=Homo sapiens OX=9606 GN=ZFYVE9 PE=1 SV=2 CANONICAL=O95405-1" }, "locus": {} } ], "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": 568, "start_aa": "Ser", "end_pos": 568, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser568", "evidence": [ { "id": "O95405", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O95405" }, { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "28657654", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28657654" }, { "id": "O95405", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O95405" } ] } ], "phosphorylation": [ { "start_pos": 302, "end_pos": 302, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O95405", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95405" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ], "site_lbl": "Thr302" }, { "start_pos": 306, "end_pos": 306, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O95405", "url": "https://www.uniprot.org/uniprot/O95405" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O95405", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95405" } ], "site_lbl": "Ser306" }, { "start_pos": 668, "end_pos": 668, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O95405", "url": "https://www.uniprot.org/uniprot/O95405" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "O95405", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95405" } ], "site_lbl": "Ser668" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Structural basis of Smad2 recognition by the Smad anchor for receptor activation.", "journal": "Science (New York, N.Y.)", "date": "2000", "authors": "Wu G, Chen YG, Ozdamar B, Gyuricza CA, Chong PA, Wrana JL, Massague J, Shi Y", "evidence": [ { "database": "UniProtKB", "id": "O95405", "url": "https://www.uniprot.org/uniprot/O95405" } ], "reference": [ { "type": "PubMed", "id": "10615055", "url": "https://glygen.org/publication/PubMed/10615055" } ] }, { "title": "Early endosomal regulation of Smad-dependent signaling in endothelial cells.", "journal": "J. Biol. Chem.", "date": "2002", "authors": "Panopoulou E, Gillooly DJ, Wrana JL, Zerial M, Stenmark H, Murphy C, Fotsis T", "evidence": [ { "database": "UniProtKB", "id": "O95405", "url": "https://www.uniprot.org/uniprot/O95405" }, { "database": "RefSeq", "id": "NP_004790", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004790" } ], "reference": [ { "type": "PubMed", "id": "11877415", "url": "https://glygen.org/publication/PubMed/11877415" } ] }, { "title": "Smad3 allostery links TGF-beta receptor kinase activation to transcriptional control.", "journal": "Genes Dev.", "date": "2002", "authors": "Qin Bin Y, Lam Suvana S, Correia John J, Lin Kai", "evidence": [ { "database": "UniProtKB", "id": "O95405", "url": "https://www.uniprot.org/uniprot/O95405" } ], "reference": [ { "type": "PubMed", "id": "12154125", "url": "https://glygen.org/publication/PubMed/12154125" } ] }, { "title": "An unappreciated role for RNA surveillance.", "journal": "Genome Biol.", "date": "2004", "authors": "Hillman R Tyler, Green Richard E, Brenner Steven E", "evidence": [ { "database": "UniProtKB", "id": "O95405", "url": "https://www.uniprot.org/uniprot/O95405" } ], "reference": [ { "type": "PubMed", "id": "14759258", "url": "https://glygen.org/publication/PubMed/14759258" } ] }, { "title": "Cytoplasmic PML function in TGF-beta signalling.", "journal": "Nature", "date": "2004", "authors": "Lin HK, Bergmann S, Pandolfi PP", "evidence": [ { "database": "UniProtKB", "id": "O95405", "url": "https://www.uniprot.org/uniprot/O95405" } ], "reference": [ { "type": "PubMed", "id": "15356634", "url": "https://glygen.org/publication/PubMed/15356634" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "iPTMnet", "id": "O95405-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95405-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Exome sequencing identifies recurrent somatic RAC1 mutations in melanoma.", "journal": "Nature genetics", "date": "2012", "authors": "Krauthammer M, Kong Y, Ha BH, Evans P, Bacchiocchi A, McCusker JP, Cheng E, Davis MJ, Goh G, Choi M, Ariyan S, Narayan D, Dutton-Regester K, Capatana A, Holman EC, Bosenberg M, Sznol M, Kluger HM, Brash DE, Stern DF, Materin MA, Lo RS, Mane S, Ma S, Kidd KK, Hayward NK, Lifton RP, Schlessinger J, Boggon TJ, Halaban R", "evidence": [ { "database": "dbSNP", "id": "rs1385994422", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1385994422" } ], "reference": [ { "type": "PubMed", "id": "22842228", "url": "https://glygen.org/publication/PubMed/22842228" } ] }, { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "O95405", "url": "https://www.uniprot.org/uniprot/O95405" }, { "database": "iPTMnet", "id": "O95405", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95405" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "Proteome wide purification and identification of O-GlcNAc-modified proteins using click chemistry and mass spectrometry.", "journal": "Journal of proteome research", "date": "2013", "authors": "Hahne H, Sobotzki N, Nyberg T, Helm D, Borodkin VS, van Aalten DM, Agnew B, Kuster B", "evidence": [ { "database": "O-GlcNAc Database", "id": "O95405", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O95405" } ], "reference": [ { "type": "PubMed", "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498" } ] }, { "title": "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.", "journal": "Journal of proteomics", "date": "2014", "authors": "Bian Y, Song C, Cheng K, Dong M, Wang F, Huang J, Sun D, Wang L, Ye M, Zou H", "evidence": [ { "database": "UniProtKB", "id": "O95405", "url": "https://www.uniprot.org/uniprot/O95405" }, { "database": "iPTMnet", "id": "O95405", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95405" } ], "reference": [ { "type": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ] }, { "title": "Quantitative proteomics identifies altered O-GlcNAcylation of structural, synaptic and memory-associated proteins in Alzheimer's disease.", "journal": "The Journal of pathology", "date": "2017", "authors": "Wang S, Yang F, Petyuk VA, Shukla AK, Monroe ME, Gritsenko MA, Rodland KD, Smith RD, Qian WJ, Gong CX, Liu T", "evidence": [ { "database": "O-GlcNAc Database", "id": "O95405", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O95405" }, { "database": "O-GlcNAc Atlas", "id": "O95405", "url": "https://oglcnac.org/atlas/detail/O95405" } ], "reference": [ { "type": "PubMed", "id": "28657654", "url": "https://glygen.org/publication/PubMed/28657654" } ] }, { "title": "Smad Anchor for Receptor Activation and Phospho-Smad3 Were Upregulated in Patients with Temporal Lobe Epilepsy.", "journal": "Journal of molecular neuroscience : MN", "date": "2019", "authors": "Zhang W, Du Y, Zou Y, Luo J, Lu Y, Yu W", "evidence": [ { "database": "RefSeq", "id": "NP_004790", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004790" } ], "reference": [ { "type": "PubMed", "id": "30847724", "url": "https://glygen.org/publication/PubMed/30847724" } ] }, { "title": "SMURF2 and SMAD7 induce SARA degradation via the proteasome.", "journal": "Cellular signalling", "date": "2020", "authors": "Wojtowicz S, Lee S, Chan E, Ng E, Campbell CI, Di Guglielmo GM", "evidence": [ { "database": "RefSeq", "id": "NP_004790", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004790" } ], "reference": [ { "type": "PubMed", "id": "32283253", "url": "https://glygen.org/publication/PubMed/32283253" } ] }, { "title": "Longitudinal changes of SARA scale in Friedreich ataxia: Strong influence of baseline score and age at onset.", "journal": "Annals of clinical and translational neurology", "date": "2023-08-28", "authors": "Porcu Luca, Fichera Mario, Nanetti Lorenzo, Rulli Eliana, Giunti Paola, Parkinson Michael H, Durr Alexandra, Ewenczyk Claire, Boesch Sylvia, Nachbauer Wolfgang, Indelicato Elisabetta, Klopstock Thomas, Stendel Claudia, Rodr\u00edguez de Rivera Francisco Javier, Sch\u00f6ls Ludger, Fleszar Zofia, Giordano Ilaria, Didszun Claire, Castaldo Anna, Rai Myriam, Klockgether Thomas, Pandolfo Massimo, Schulz J\u00f6rg B, Reetz Kathrin, Mariotti Caterina,", "evidence": [ { "database": "RefSeq", "id": "NP_004790", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004790" } ], "reference": [ { "type": "PubMed", "id": "37641437", "url": "https://glygen.org/publication/PubMed/37641437" } ] }, { "title": "Identification of a novel serine protease-like molecule in human brain.", "journal": "Brain Res. Mol. Brain Res.", "date": "1998", "authors": "Meckelein B, Marshall D C, Conn K J, Pietropaolo M, Van Nostrand W, Abraham C R", "evidence": [ { "database": "UniProtKB", "id": "O95405", "url": "https://www.uniprot.org/uniprot/O95405" } ], "reference": [ { "type": "PubMed", "id": "9582421", "url": "https://glygen.org/publication/PubMed/9582421" } ] }, { "title": "SARA, a FYVE domain protein that recruits Smad2 to the TGFbeta receptor.", "journal": "Cell", "date": "1998", "authors": "Tsukazaki T, Chiang TA, Davison AF, Attisano L, Wrana JL", "evidence": [ { "database": "UniProtKB", "id": "O95405", "url": "https://www.uniprot.org/uniprot/O95405" } ], "reference": [ { "type": "PubMed", "id": "9865696", "url": "https://glygen.org/publication/PubMed/9865696" } ] } ], "pathway": [ { "id": "hsa:9372", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:9372", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "A2A8R0-1", "protein_name": "Zinc finger 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"MENYFQAEAYNLDKVLDEFEQNEDETVSPTLLDTKWNKILDPSSHPLSFNPALASVNEPTVSETGPQLKVFSLAGSAPLTKEDKDPCANGQDCSLNPETDTMWIDENAVTEDQLIKRNYNQDDQFSAVEVGEEKCGSLTCLPDEKNVLVVAVMHNCDKRTLQSDLQDCNNYNSQSLMNSFSCSLDNETRQTDQFSFSMNGSTEKGINSEKQMDALNKPKPERDSVNHLCAASSNSATSISSPSQLKDGENVGRDPSTSTVTSLAVNSSQGMDGGPAIKQQGNYMPDEDLSGMNSSSRTDLGISNSFSHSSGELLIKTEPAEERTAEDSLPSDLSLNLKPDTPALSGRDNCEQSSDCLGSSETRADEDEGNDSQMTNWKLTKLNEMSDSQVNEENQMALQSNQPEDTNSGGECVGMADSDLDFKGTCMNESEGYDFSTVNDAPAANSLSNSCDSYGMQSPIVSFVPKTLPSKEDSVTEEKEIEESKSECYSNIYEQRGNENAEGSGLLLNSTGNVMKKNYLHNFCSQIPSVLGQSSPKIANLQSISVPFGGARPKQPSNLKLQIPKPLSDHLQNDLPANNGNNSKNKNDVLGKAKLGENSAVNACSATLGNISVTDTNGEHLETYEAEISSRPCLALAPDSPDNDLRASQFGISARKPFTTLGEVAPVWVPDSQAPNCMKCEARFTFTKRRHHCRACGKVFCASCCSLKCKLLYMDRKEARVCVICHSVLMNAQAWENMMSASSQSPNPNNPAEYCSTIPPLQQAQASGALSSPPPTVMVPVGVLKHPGTEVPQPREQRRVWFADGILPNGEVADAAKLTMNGTSSAGTLAVSHDPVKPVATSPLPTEADTSLFSGSITQVGSPVGSAMNLIPEDGLPPILISTGVKGDYAVEEKPSQISVMQQLEDGGPDPLVFVLNANLLSMVKIVNYVNRKCWCFTTKGMHAVGQSEIVILLQCLPDEKCLPKDIFNHFVQLYRDALAGNVVGSLGHSFFSQSFLGSKEHGGFLYVTSTYQSLQDLVLPTPPYLFGILIQKWETPWAKVFPIRLLLRLGAEYRLYPCPLFSVRFRKPLFGETGHTIMNLLADFRNYQYTLPVVQGLVVDMEVRKTSIKIPSNRYNEMMKAMNKSNEHVLAGGACFNEKADSHLVCVQNDDGNYQTQAISIHNQPRKVTGASFFVFSGALKSSSGYLAKSSIVEDGVMVQITAENMDSLRQALREMKDFTITCGKADAEDPQEQIHIQWVDDDKTVNKGVVSPIDGKSMESITNVKIFHGSEYKANGKVIRWTEVFFLENDDHHNCLSDPADHSRLTEHVAKAFCLALCPHLKLLKEDGMTKLGLRVTLDSDQVGYQAGSNGQPLPSQYMNDLDSALVPVIHGGACQLSEGPVVMELIFYILENIA", 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