{ "uniprot_canonical_ac": "P12757-1", "uniprot_ac": "P12757", "uniprot_id": "SKIL_HUMAN", "mass": { "chemical_mass": 76976.0, "monoisotopic_mass": 76976.0 }, "refseq": { "ac": "NP_001138569", "name": "ski-like protein isoform 2", "summary": "The protein encoded by this gene is a component of the SMAD pathway, which regulates cell growth and differentiation through transforming growth factor-beta (TGFB). In the absence of ligand, the encoded protein binds to the promoter region of TGFB-responsive genes and recruits a nuclear repressor complex. TGFB signaling causes SMAD3 to enter the nucleus and degrade this protein, allowing these genes to be activated. Four transcript variants encoding three different isoforms have been found for this gene. [provided by RefSeq, Oct 2011].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138569" }, "gene_names": [ { "name": "SKIL", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P12757", "id": "P12757" }, { "name": "SKIL", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138569", "id": "NP_001138569" }, { "name": "SNO; SnoA; SnoI; SnoN", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138569", "id": "NP_001138569" }, { "name": "SNO", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P12757", "id": "P12757" } ], "protein_names": [ { "name": "Ski-like protein", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P12757" }, { "name": "Ski-related oncogene", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P12757" }, { "name": "Ski-related protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P12757" }, { "name": "ski-like protein isoform 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138569", "id": "NP_001138569" }, { "name": "ski-like protein; ski-related oncogene snoN; SKI-like oncogene", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138569", "id": "NP_001138569" } ], "function": [ { "annotation": "ATAD3B and SKIL polymorphisms associated with antipsychotic-induced QTc interval change in patients with schizophrenia: a genome-wide association study. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001138569", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138569" }, { "database": "PubMed", "id": "35136033", "url": "https://glygen.org/publication/PubMed/35136033" } ] }, { "annotation": "May have regulatory role in cell division or differentiation in response to extracellular signals.", "evidence": [ { "database": "UniProtKB", "id": "P12757", "url": "https://www.uniprot.org/uniprot/P12757#function" } ] }, { "annotation": "PIAS1 and TIF1gamma collaborate to promote SnoN SUMOylation and suppression of epithelial-mesenchymal transition. Erratum:[Cell Death Differ. 2020 Aug 18;:. PMID: 32811972]", "evidence": [ { "database": "RefSeq", "id": "NP_001138569", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138569" }, { "database": "PubMed", "id": "32770107", "url": "https://glygen.org/publication/PubMed/32770107" } ] }, { "annotation": "SKIL facilitates tumorigenesis and immune escape of NSCLC via upregulating TAZ/autophagy axis. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001138569", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138569" }, { "database": "PubMed", "id": "33268765", "url": "https://glygen.org/publication/PubMed/33268765" } ] }, { "annotation": "SKIL/SnoN attenuates TGF-beta1/SMAD signaling-dependent collagen synthesis in hepatic fibrosis. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001138569", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138569" }, { "database": "PubMed", "id": "37389959", "url": "https://glygen.org/publication/PubMed/37389959" } ] }, { "annotation": "The protein encoded by this gene is a component of the SMAD pathway, which regulates cell growth and differentiation through transforming growth factor-beta (TGFB). In the absence of ligand, the encoded protein binds to the promoter region of TGFB-responsive genes and recruits a nuclear repressor complex. TGFB signaling causes SMAD3 to enter the nucleus and degrade this protein, allowing these genes to be activated. Four transcript variants encoding three different isoforms have been found for this gene. [provided by RefSeq, Oct 2011].", "evidence": [ { "database": "RefSeq", "id": "NP_001138569", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138569" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs1337211285", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1337211285" }, { "id": "rs1337211285", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1337211285" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 140, "end_pos": 140, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SST->NST).", "chr_id": "3", "chr_pos": "170360750", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S140", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1560218565", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1560218565" }, { "id": "rs1560218565", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1560218565" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 450, "end_pos": 450, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (TVS->NVS).", "chr_id": "3", "chr_pos": "170384678_170384679i", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T450", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs766832508", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766832508" }, { "id": "rs766832508", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766832508" }, { "id": "rs766832508", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs766832508#frequency_tab" }, { "id": "rs766832508", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs766832508" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 455, "end_pos": 455, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DVS->NVS).", "chr_id": "3", "chr_pos": "170384699", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D455", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs774310283", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774310283" }, { "id": "rs774310283", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774310283" }, { "id": "rs774310283", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs774310283" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 614, "end_pos": 614, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KCT->NCT).", "chr_id": "3", "chr_pos": "170391206", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K614", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs781731304", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781731304" }, { "id": "rs781731304", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781731304" }, { "id": "rs781731304", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs781731304" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 72, "end_pos": 72, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->I).", "chr_id": "3", "chr_pos": "170360546", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T72", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs375921429", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs375921429" }, { "id": "rs375921429", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs375921429" }, { "id": "rs375921429", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs375921429#frequency_tab" }, { "id": "rs375921429", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs375921429" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 74, "end_pos": 74, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->A).", "chr_id": "3", "chr_pos": "170381244", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T74", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1377091470", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1377091470" }, { "id": "rs1377091470", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1377091470#frequency_tab" }, { "id": "rs1377091470", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1377091470" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 74, "end_pos": 74, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->I).", "chr_id": "3", "chr_pos": "170360552", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T74", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "76.86", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000136603", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136603" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "90.33", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000136603", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136603" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "89.85", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000136603", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136603" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "49.96", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000136603", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136603" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "81.46", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000136603", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136603" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "88.03", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000136603", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136603" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "81.51", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000136603", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136603" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "84.89", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000136603", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136603" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "86.29", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000136603", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136603" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "94.23", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000136603", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136603" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "92.65", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000136603", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136603" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "82.52", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000136603", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136603" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "84.57", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000136603", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136603" } ] } ], "expression_disease": [ { "significant": "No", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P12757", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P12757" } ], "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": "P12757", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P12757" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "P12757", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P12757" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "P12757", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P12757" } ], "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": "No", "trend": "up", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "P12757", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P12757" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "P12757", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P12757" } ], "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": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P12757", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P12757" } ], "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": "No", "trend": "down", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "P12757", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P12757" } ], "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": "P12757", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P12757" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "P12757", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P12757" } ], "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": "P12757", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P12757" } ], "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Aerodigestive tract cancer, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Escc, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "gastric cardia adenocarcinoma, susceptibility to", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Colorectal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:9256", "evidence": [ { "database": "BioXpress", "id": "P12757", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P12757" } ], "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, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P12757", "url": "https://www.uniprot.org/uniprot/P12757" } ], "common_name": "Human" } ], "gene": [ { "name": "SKIL", "url": "https://www.uniprot.org/uniprot/P12757", "locus": { "chromosome": "3", "start_pos": 170396835, "end_pos": 170357342, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000136603", "url": "https://www.ensembl.org/id/ENSG00000136603" } ] } } ], "crossref": [ { "id": "ENSG00000136603", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136603", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "cd21084", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd21084", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "SKIL", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=SKIL", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "6498", "url": "https://www.ncbi.nlm.nih.gov/gene/6498", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "10897", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=10897", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "P12757", "url": "https://www.ebi.ac.uk/intact/interactors/id:P12757*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR003380", "url": "https://www.ebi.ac.uk/interpro/entry/IPR003380", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR009061", "url": "https://www.ebi.ac.uk/interpro/entry/IPR009061", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR010919", "url": "https://www.ebi.ac.uk/interpro/entry/IPR010919", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR014890", "url": "https://www.ebi.ac.uk/interpro/entry/IPR014890", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR023216", "url": "https://www.ebi.ac.uk/interpro/entry/IPR023216", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR037000", "url": "https://www.ebi.ac.uk/interpro/entry/IPR037000", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:6498", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:6498", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "165340", "url": "http://www.omim.org/entry/165340", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_P12757", "url": "https://www.nextprot.org/entry/NX_P12757", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "P12757", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P12757", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "HAHRMEE", "url": "https://omabrowser.org/oma/group/HAHRMEE/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "5400889at2759", "url": "http://www.orthodb.org/?query=5400889at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR10005", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10005", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR10005:SF3", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10005:SF3", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "3EQ5", "url": "https://www.rcsb.org/structure/3EQ5", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5C4V", "url": "https://www.rcsb.org/structure/5C4V", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF02437", "url": "http://pfam.xfam.org/family/PF02437", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF08782", "url": "http://pfam.xfam.org/family/PF08782", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "P12757", "url": "https://pharos.nih.gov/targets/P12757", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_P12757", "url": "http://purl.obolibrary.org/obo/PR_P12757", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-2173795", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2173795", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001138569", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138569", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "C9J8R9", "url": "https://www.uniprot.org/uniprot/C9J8R9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9J8R9-1", "url": "https://www.uniprot.org/uniprot/C9J8R9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7C4V3", "url": "https://www.uniprot.org/uniprot/H7C4V3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7C4V3-1", "url": "https://www.uniprot.org/uniprot/H7C4V3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P12757", "url": "https://www.uniprot.org/uniprot/P12757", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P12757-1", "url": "https://www.uniprot.org/uniprot/P12757-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P12757-2", "url": "https://www.uniprot.org/uniprot/P12757-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P12757-3", "url": "https://www.uniprot.org/uniprot/P12757-3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P12757-4", "url": "https://www.uniprot.org/uniprot/P12757-4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P12757-5", "url": "https://www.uniprot.org/uniprot/P12757-5", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MENLQTNFSLVQGSTKKLNGMGDDGSPPAKKMITDIHANGKTINKVPTVKKEHLDDYGEAPVETDGEHVKRTCTSVPETLHLNPSLKHTLAQFHLSSQSSLGGPAAFSARHSQESMSPTVFLPLPSPQVLPGPLLIPSDSSTELTQTVLEGESISCFQVGGEKRLCLPQVLNSVLREFTLQQINTVCDELYIYCSRCTSDQLHILKVLGILPFNAPSCGLITLTDAQRLCNALLRPRTFPQNGSVLPAKSSLAQLKETGSAFEVEHECLGKCQGLFAPQFYVQPDAPCIQCLECCGMFAPQTFVMHSHRSPDKRTCHWGFESAKWHCYLHVNQKYLGTPEEKKLKIILEEMKEKFSMRSGKRNQSKTDAPSGMELQSWYPVIKQEGDHVSQTHSFLHPSYYLYMCDKVVAPNVSLTSAVSQSKELTKTEASKSISRQSEKAHSSGKLQKTVSYPDVSLEEQEKMDLKTSRELCSRLDASISNNSTSKRKSESATCNLVRDINKVGIGLVAAASSPLLVKDVICEDDKGKIMEEVMRTYLKQQEKLNLILQKKQQLQMEVKMLSSSKSMKELTEEQQNLQKELESLQNEHAQRMEEFYVEQKDLEKKLEQIMKQKCTCDSNLEKDKEAEYAGQLAELRQRLDHAEADRQELQDELRQEREARQKLEMMIKELKLQILKSSKTAKE", "length": 684, "header": "sp|P12757-1|SKIL_HUMAN Isoform 1 of Ski-like protein OS=Homo sapiens OX=9606 GN=SKIL PE=1 SV=2 CANONICAL=P12757-1" }, "isoforms": [ { "isoform_ac": "C9J8R9-1", "url": "", "sequence": { "sequence": "MENLQTNFSLVQGSTKKLNGMGDDGSPPAKKMITDIHANGKTINKVPTVKKEHLDDYGEAPVETDGEHVKRTCTSVPETLHLNPSLKHTLAQFHLSSQSSLGGPAAFSARHSQESMSPTVFLP", "length": 123, "header": "tr|C9J8R9-1|C9J8R9_HUMAN Computationally mapped isoform of SKI like proto-oncogene OS=Homo sapiens OX=9606 GN=SKIL PE=1 SV=1 CANONICAL=P12757-1" }, "locus": { "chromosome": "3", "start_pos": 170360700, "end_pos": 170360332, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000476188.5", "url": "https://www.ensembl.org/id/ENST00000476188.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000417670.1", "url": "https://www.ensembl.org/id/ENSP00000417670.1" } ] } }, { "isoform_ac": "H7C4V3-1", "url": "", "sequence": { "sequence": "XCGMFAPQTFVMHSHRSPDKRTCHWGFESAKWHCYLHVNQKYLGTPEEKKLKIILEEMKEKFSMRSGKRNQSKTDAPSGMELQSWYPVIKQEGDHVSQTHSFLHPRCINLK", "length": 111, "header": "tr|H7C4V3-1|H7C4V3_HUMAN Computationally mapped isoform of SKI like proto-oncogene OS=Homo sapiens OX=9606 GN=SKIL PE=1 SV=1 CANONICAL=P12757-1" }, "locus": { "chromosome": "3", "start_pos": 170390239, "end_pos": 170361212, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000470571.1", "url": "https://www.ensembl.org/id/ENST00000470571.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000418237.1", "url": "https://www.ensembl.org/id/ENSP00000418237.1" } ] } }, { "isoform_ac": "P12757-1", "url": "", "sequence": { "sequence": "MENLQTNFSLVQGSTKKLNGMGDDGSPPAKKMITDIHANGKTINKVPTVKKEHLDDYGEAPVETDGEHVKRTCTSVPETLHLNPSLKHTLAQFHLSSQSSLGGPAAFSARHSQESMSPTVFLPLPSPQVLPGPLLIPSDSSTELTQTVLEGESISCFQVGGEKRLCLPQVLNSVLREFTLQQINTVCDELYIYCSRCTSDQLHILKVLGILPFNAPSCGLITLTDAQRLCNALLRPRTFPQNGSVLPAKSSLAQLKETGSAFEVEHECLGKCQGLFAPQFYVQPDAPCIQCLECCGMFAPQTFVMHSHRSPDKRTCHWGFESAKWHCYLHVNQKYLGTPEEKKLKIILEEMKEKFSMRSGKRNQSKTDAPSGMELQSWYPVIKQEGDHVSQTHSFLHPSYYLYMCDKVVAPNVSLTSAVSQSKELTKTEASKSISRQSEKAHSSGKLQKTVSYPDVSLEEQEKMDLKTSRELCSRLDASISNNSTSKRKSESATCNLVRDINKVGIGLVAAASSPLLVKDVICEDDKGKIMEEVMRTYLKQQEKLNLILQKKQQLQMEVKMLSSSKSMKELTEEQQNLQKELESLQNEHAQRMEEFYVEQKDLEKKLEQIMKQKCTCDSNLEKDKEAEYAGQLAELRQRLDHAEADRQELQDELRQEREARQKLEMMIKELKLQILKSSKTAKE", "length": 684, "header": "sp|P12757-1|SKIL_HUMAN Isoform 1 of Ski-like protein OS=Homo sapiens OX=9606 GN=SKIL PE=1 SV=2 CANONICAL=P12757-1" }, "locus": { "chromosome": "3", "start_pos": 170392414, "end_pos": 170360332, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000465590.2", "url": "https://www.ensembl.org/id/ENST00000465590.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000516712.1", "url": "https://www.ensembl.org/id/ENSP00000516712.1" } ] } }, { "isoform_ac": "P12757-2", "url": "", "sequence": { "sequence": "MENLQTNFSLVQGSTKKLNGMGDDGSPPAKKMITDIHANGKTINKVPTVKKEHLDDYGEAPVETDGEHVKRTCTSVPETLHLNPSLKHTLAQFHLSSQSSLGGPAAFSARHSQESMSPTVFLPLPSPQVLPGPLLIPSDSSTELTQTVLEGESISCFQVGGEKRLCLPQVLNSVLREFTLQQINTVCDELYIYCSRCTSDQLHILKVLGILPFNAPSCGLITLTDAQRLCNALLRPRTFPQNGSVLPAKSSLAQLKETGSAFEVEHECLGKCQGLFAPQFYVQPDAPCIQCLECCGMFAPQTFVMHSHRSPDKRTCHWGFESAKWHCYLHVNQKYLGTPEEKKLKIILEEMKEKFSMRSGKRNQSKASFLYQFLIMVMVYFEMKILCLVCNLTCMLNIAHATTTKYRLIYLYCSF", "length": 415, "header": "sp|P12757-2|SKIL_HUMAN Isoform 2 of Ski-like protein OS=Homo sapiens OX=9606 GN=SKIL PE=1 SV=2 CANONICAL=P12757-1" }, "locus": {} }, { "isoform_ac": "P12757-3", "url": "", "sequence": { "sequence": "MENLQTNFSLVQGSTKKLNGMGDDGSPPAKKMITDIHANGKTINKVPTVKKEHLDDYGEAPVETDGEHVKRTCTSVPETLHLNPSLKHTLAQFHLSSQSSLGGPAAFSARHSQESMSPTVFLPLPSPQVLPGPLLIPSDSSTELTQTVLEGESISCFQVGGEKRLCLPQVLNSVLREFTLQQINTVCDELYIYCSRCTSDQLHILKVLGILPFNAPSCGLITLTDAQRLCNALLRPRTFPQNGSVLPAKSSLAQLKETGSAFEVEHECLGKCQGLFAPQFYVQPDAPCIQCLECCGMFAPQTFVMHSHRSPDKRTCHWGFESAKWHCYLHVNQKYLGTPEEKKLKIILEEMKEKFSMRSGKRNQSKTDAPSGMELQSWYPVIKQEGDHVSQTHSFLHPSYYLYMCDKVVAPNVSLTSAVSQSKELTKTEANASISNNSTSKRKSESATCNLVRDINKVGIGLVAAASSPLLVKDVICEDDKGKIMEEVMRTYLKQQEKLNLILQKKQQLQMEVKMLSSSKSMKELTEEQQNLQKELESLQNEHAQRMEEFYVEQKDLEKKLEQIMKQKCTCDSNLEKDKEAEYAGQLAELRQRLDHAEADRQELQDELRQEREARQKLEMMIKELKLQILKSSKTAKE", "length": 638, "header": "sp|P12757-3|SKIL_HUMAN Isoform 3 of Ski-like protein OS=Homo sapiens OX=9606 GN=SKIL PE=1 SV=2 CANONICAL=P12757-1" }, "locus": { "chromosome": "3", "start_pos": 170392414, "end_pos": 170360332, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000413427.6", "url": "https://www.ensembl.org/id/ENST00000413427.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000400193.2", "url": "https://www.ensembl.org/id/ENSP00000400193.2" } ] } }, { "isoform_ac": "P12757-4", "url": "", "sequence": { "sequence": "MENLQTNFSLVQGSTKKLNGMGDDGSPPAKKMITDIHANGKTINKVPTVKKEHLDDYGEAPVETDGEHVKRTCTSVPETLHLNPSLKHTLAQFHLSSQSSLGGPAAFSARHSQESMSPTVFLPLPSPQVLPGPLLIPSDSSTELTQTVLEGESISCFQVGGEKRLCLPQVLNSVLREFTLQQINTVCDELYIYCSRCTSDQLHILKVLGILPFNAPSCGLITLTDAQRLCNALLRPRTFPQNGSVLPAKSSLAQLKETGSAFEVEHECLGKCQGLFAPQFYVQPDAPCIQCLECCGMFAPQTFVMHSHRSPDKRTCHWGFESAKWHCYLHVNQKYLGTPEEKKLKIILEEMKEKFSMRSGKRNQSKTDAPSGMELQSWYPVIKQEGDHVSQTHSFLHPS", "length": 399, "header": "sp|P12757-4|SKIL_HUMAN Isoform 4 of Ski-like protein OS=Homo sapiens OX=9606 GN=SKIL PE=1 SV=2 CANONICAL=P12757-1" }, "locus": {} }, { "isoform_ac": "P12757-5", "url": "", "sequence": { "sequence": "MGDDGSPPAKKMITDIHANGKTINKVPTVKKEHLDDYGEAPVETDGEHVKRTCTSVPETLHLNPSLKHTLAQFHLSSQSSLGGPAAFSARHSQESMSPTVFLPLPSPQVLPGPLLIPSDSSTELTQTVLEGESISCFQVGGEKRLCLPQVLNSVLREFTLQQINTVCDELYIYCSRCTSDQLHILKVLGILPFNAPSCGLITLTDAQRLCNALLRPRTFPQNGSVLPAKSSLAQLKETGSAFEVEHECLGKCQGLFAPQFYVQPDAPCIQCLECCGMFAPQTFVMHSHRSPDKRTCHWGFESAKWHCYLHVNQKYLGTPEEKKLKIILEEMKEKFSMRSGKRNQSKTDAPSGMELQSWYPVIKQEGDHVSQTHSFLHPSYYLYMCDKVVAPNVSLTSAVSQSKELTKTEASKSISRQSEKAHSSGKLQKTVSYPDVSLEEQEKMDLKTSRELCSRLDASISNNSTSKRKSESATCNLVRDINKVGIGLVAAASSPLLVKDVICEDDKGKIMEEVMRTYLKQQEKLNLILQKKQQLQMEVKMLSSSKSMKELTEEQQNLQKELESLQNEHAQRMEEFYVEQKDLEKKLEQIMKQKCTCDSNLEKDKEAEYAGQLAELRQRLDHAEADRQELQDELRQEREARQKLEMMIKELKLQILKSSKTAKE", "length": 664, "header": "sp|P12757-5|SKIL_HUMAN Isoform 5 of Ski-like protein OS=Homo sapiens OX=9606 GN=SKIL PE=1 SV=2 CANONICAL=P12757-1" }, "locus": { "chromosome": "3", "start_pos": 170392414, "end_pos": 170360392, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000426052.6", "url": "https://www.ensembl.org/id/ENST00000426052.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000406520.2", "url": "https://www.ensembl.org/id/ENSP00000406520.2" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 72, "start_aa": "Thr", "end_pos": 72, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr72", "evidence": [ { "id": "P12757", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P12757" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "35289036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35289036" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 74, "start_aa": "Thr", "end_pos": 74, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr74", "evidence": [ { "id": "P12757", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P12757" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "35289036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35289036" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 75, "start_aa": "Ser", "end_pos": 75, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser75", "evidence": [ { "id": "P12757", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P12757" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "35289036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35289036" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" } ] } ], "phosphorylation": [ { "start_pos": 26, "end_pos": 26, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P12757", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P12757" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ], "site_lbl": "Ser26" }, { "start_pos": 426, "end_pos": 426, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P12757", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P12757" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr426" }, { "start_pos": 452, "end_pos": 452, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P12757", "url": "https://www.uniprot.org/uniprot/P12757" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "P12757", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P12757" } ], "site_lbl": "Ser452" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "A mechanism of repression of TGFbeta/ Smad signaling by oncogenic Ras.", "journal": "Genes & development", "date": "1999", "authors": "Kretzschmar M, Doody J, Timokhina I, Massague J", "evidence": [ { "database": "Reactome", "id": "R-HSA-2173795", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2173795" } ], "reference": [ { "type": "PubMed", "id": "10197981", "url": "https://glygen.org/publication/PubMed/10197981" } ] }, { "title": "A Smad transcriptional corepressor.", "journal": "Cell", "date": "1999", "authors": "Wotton D, Lo RS, Lee S, Massague J", "evidence": [ { "database": "Reactome", "id": "R-HSA-2173795", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2173795" } ], "reference": [ { "type": "PubMed", "id": "10199400", "url": "https://glygen.org/publication/PubMed/10199400" } ] }, { "title": "The Ski oncoprotein interacts with the Smad proteins to repress TGFbeta signaling.", "journal": "Genes & development", "date": "1999", "authors": "Luo K, Stroschein SL, Wang W, Chen D, Martens E, Zhou S, Zhou Q", "evidence": [ { "database": "Reactome", "id": "R-HSA-2173795", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2173795" } ], "reference": [ { "type": "PubMed", "id": "10485843", "url": "https://glygen.org/publication/PubMed/10485843" } ] }, { "title": "Negative feedback regulation of TGF-beta signaling by the SnoN oncoprotein.", "journal": "Science (New York, N.Y.)", "date": "1999", "authors": "Stroschein SL, Wang W, Zhou S, Zhou Q, Luo K", "evidence": [ { "database": "Reactome", "id": "R-HSA-2173795", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2173795" } ], "reference": [ { "type": "PubMed", "id": "10531062", "url": "https://glygen.org/publication/PubMed/10531062" } ] }, { "title": "SnoN and Ski protooncoproteins are rapidly degraded in response to transforming growth factor beta signaling.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1999", "authors": "Sun Y, Liu X, Ng-Eaton E, Lodish HF, Weinberg RA", "evidence": [ { "database": "Reactome", "id": "R-HSA-2173795", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2173795" } ], "reference": [ { "type": "PubMed", "id": "10535941", "url": "https://glygen.org/publication/PubMed/10535941" } ] }, { "title": "Interaction of the Ski oncoprotein with Smad3 regulates TGF-beta signaling.", "journal": "Molecular cell", "date": "1999", "authors": "Sun Y, Liu X, Eaton EN, Lane WS, Lodish HF, Weinberg RA", "evidence": [ { "database": "Reactome", "id": "R-HSA-2173795", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2173795" } ], "reference": [ { "type": "PubMed", "id": "10549282", "url": "https://glygen.org/publication/PubMed/10549282" } ] }, { "title": "Ubiquitin-dependent degradation of TGF-beta-activated smad2.", "journal": "Nature cell biology", "date": "1999", "authors": "Lo RS, Massague J", "evidence": [ { "database": "Reactome", "id": "R-HSA-2173795", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2173795" } ], "reference": [ { "type": "PubMed", "id": "10587642", "url": "https://glygen.org/publication/PubMed/10587642" } ] }, { "title": "SMAD destruction turns off signalling.", "journal": "Nature cell biology", "date": "1999", "authors": "Heldin CH, ten Dijke P", "evidence": [ { "database": "Reactome", "id": "R-HSA-2173795", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2173795" } ], "reference": [ { "type": "PubMed", "id": "10587654", "url": "https://glygen.org/publication/PubMed/10587654" } ] }, { "title": "TGF-beta induces assembly of a Smad2-Smurf2 ubiquitin ligase complex that targets SnoN for degradation.", "journal": "Nature cell biology", "date": "2001", "authors": "Bonni S, Wang HR, Causing CG, Kavsak P, Stroschein SL, Luo K, Wrana JL", "evidence": [ { "database": "Reactome", "id": "R-HSA-2173795", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2173795" } ], "reference": [ { "type": "PubMed", "id": "11389444", "url": "https://glygen.org/publication/PubMed/11389444" } ] }, { "title": "TGIF2 interacts with histone deacetylase 1 and represses transcription.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Melhuish TA, Gallo CM, Wotton D", "evidence": [ { "database": "Reactome", "id": "R-HSA-2173795", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2173795" } ], "reference": [ { "type": "PubMed", "id": "11427533", "url": "https://glygen.org/publication/PubMed/11427533" } ] }, { "title": "Negative regulation of transforming growth factor-beta (TGF-beta) signaling by WW domain-containing protein 1 (WWP1).", "journal": "Oncogene", "date": "2004", "authors": "Komuro A, Imamura T, Saitoh M, Yoshida Y, Yamori T, Miyazono K, Miyazawa K", "evidence": [ { "database": "UniProtKB", "id": "P12757", "url": "https://www.uniprot.org/uniprot/P12757" } ], "reference": [ { "type": "PubMed", "id": "15221015", "url": "https://glygen.org/publication/PubMed/15221015" } ] }, { "title": "Germ-layer specification and control of cell growth by Ectodermin, a Smad4 ubiquitin ligase.", "journal": "Cell", "date": "2005", "authors": "Dupont S, Zacchigna L, Cordenonsi M, Soligo S, Adorno M, Rugge M, Piccolo S", "evidence": [ { "database": "Reactome", "id": "R-HSA-2173795", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2173795" } ], "reference": [ { "type": "PubMed", "id": "15820681", "url": "https://glygen.org/publication/PubMed/15820681" } ] }, { "title": "Identification and characterization of ERK MAP kinase phosphorylation sites in Smad3.", "journal": "Biochemistry", "date": "2005", "authors": "Matsuura I, Wang G, He D, Liu F", "evidence": [ { "database": "Reactome", "id": "R-HSA-2173795", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2173795" } ], "reference": [ { "type": "PubMed", "id": "16156666", "url": "https://glygen.org/publication/PubMed/16156666" } ] }, { "title": "PPM1A functions as a Smad phosphatase to terminate TGFbeta signaling.", "journal": "Cell", "date": "2006", "authors": "Lin X, Duan X, Liang YY, Su Y, Wrighton KH, Long J, Hu M, Davis CM, Wang J, Brunicardi FC, Shi Y, Chen YG, Meng A, Feng XH", "evidence": [ { "database": "Reactome", "id": "R-HSA-2173795", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2173795" } ], "reference": [ { "type": "PubMed", "id": "16751101", "url": "https://glygen.org/publication/PubMed/16751101" } ] }, { "title": "Hematopoiesis controlled by distinct TIF1gamma and Smad4 branches of the TGFbeta pathway.", "journal": "Cell", "date": "2006", "authors": "He W, Dorn DC, Erdjument-Bromage H, Tempst P, Moore MA, Massague J", "evidence": [ { "database": "Reactome", "id": "R-HSA-2173795", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2173795" } ], "reference": [ { "type": "PubMed", "id": "16751102", "url": "https://glygen.org/publication/PubMed/16751102" } ] }, { "title": "Smad7 antagonizes transforming growth factor beta signaling in the nucleus by interfering with functional Smad-DNA complex formation.", "journal": "Molecular and cellular biology", "date": "2007", "authors": "Zhang S, Fei T, Zhang L, Zhang R, Chen F, Ning Y, Han Y, Feng XH, Meng A, Chen YG", "evidence": [ { "database": "Reactome", "id": "R-HSA-2173795", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2173795" } ], "reference": [ { "type": "PubMed", "id": "17438144", "url": "https://glygen.org/publication/PubMed/17438144" } ] }, { "title": "Arkadia induces degradation of SnoN and c-Ski to enhance transforming growth factor-beta signaling.", "journal": "The Journal of biological chemistry", "date": "2007", "authors": "Nagano Y, Mavrakis KJ, Lee KL, Fujii T, Koinuma D, Sase H, Yuki K, Isogaya K, Saitoh M, Imamura T, Episkopou V, Miyazono K, Miyazawa K", "evidence": [ { "database": "Reactome", "id": "R-HSA-2173795", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2173795" } ], "reference": [ { "type": "PubMed", "id": "17510063", "url": "https://glygen.org/publication/PubMed/17510063" } ] }, { "title": "Arkadia activates Smad3/Smad4-dependent transcription by triggering signal-induced SnoN degradation.", "journal": "Molecular and cellular biology", "date": "2007", "authors": "Levy L, Howell M, Das D, Harkin S, Episkopou V, Hill CS", "evidence": [ { "database": "UniProtKB", "id": "P12757", "url": "https://www.uniprot.org/uniprot/P12757" }, { "database": "Reactome", "id": "R-HSA-2173795", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2173795" } ], "reference": [ { "type": "PubMed", "id": "17591695", "url": "https://glygen.org/publication/PubMed/17591695" } ] }, { "title": "Evolution of Na,K-ATPase beta m-subunit into a coregulator of transcription in placental mammals.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2007", "authors": "Pestov NB, Ahmad N, Korneenko TV, Zhao H, Radkov R, Schaer D, Roy S, Bibert S, Geering K, Modyanov NN", "evidence": [ { "database": "Reactome", "id": "R-HSA-2173795", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2173795" } ], "reference": [ { "type": "PubMed", "id": "17592128", "url": "https://glygen.org/publication/PubMed/17592128" } ] }, { "title": "TAZ controls Smad nucleocytoplasmic shuttling and regulates human embryonic stem-cell self-renewal.", "journal": "Nature cell biology", "date": "2008", "authors": "Varelas X, Sakuma R, Samavarchi-Tehrani P, Peerani R, Rao BM, Dembowy J, Yaffe MB, Zandstra PW, Wrana JL", "evidence": [ { "database": "Reactome", "id": "R-HSA-2173795", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2173795" } ], "reference": [ { "type": "PubMed", "id": "18568018", "url": "https://glygen.org/publication/PubMed/18568018" } ] }, { "title": "FAM/USP9x, a deubiquitinating enzyme essential for TGFbeta signaling, controls Smad4 monoubiquitination.", "journal": "Cell", "date": "2009", "authors": "Dupont S, Mamidi A, Cordenonsi M, Montagner M, Zacchigna L, Adorno M, Martello G, Stinchfield MJ, Soligo S, Morsut L, Inui M, Moro S, Modena N, Argenton F, Newfeld SJ, Piccolo S", "evidence": [ { "database": "Reactome", "id": "R-HSA-2173795", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2173795" } ], "reference": [ { "type": "PubMed", "id": "19135894", "url": "https://glygen.org/publication/PubMed/19135894" } ] }, { "title": "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.", "journal": "Analytical chemistry", "date": "2009", "authors": "Gauci S, Helbig AO, Slijper M, Krijgsveld J, Heck AJ, Mohammed S", "evidence": [ { "database": "iPTMnet", "id": "P12757-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P12757-1" } ], "reference": [ { "type": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ] }, { "title": "Ubiquitin ligase Nedd4L targets activated Smad2/3 to limit TGF-beta signaling.", "journal": "Molecular cell", "date": "2009", "authors": "Gao S, Alarcon C, Sapkota G, Rahman S, Chen PY, Goerner N, Macias MJ, Erdjument-Bromage H, Tempst P, Massague J", "evidence": [ { "database": "Reactome", "id": "R-HSA-2173795", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2173795" } ], "reference": [ { "type": "PubMed", "id": "19917253", "url": "https://glygen.org/publication/PubMed/19917253" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "iPTMnet", "id": "P12757-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P12757-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "PARP-1 attenuates Smad-mediated transcription.", "journal": "Molecular cell", "date": "2010", "authors": "Lonn P, van der Heide LP, Dahl M, Hellman U, Heldin CH, Moustakas A", "evidence": [ { "database": "Reactome", "id": "R-HSA-2173795", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2173795" } ], "reference": [ { "type": "PubMed", "id": "21095583", "url": "https://glygen.org/publication/PubMed/21095583" } ] }, { "title": "Ablation of Smurf2 reveals an inhibition in TGF-beta signalling through multiple mono-ubiquitination of Smad3.", "journal": "The EMBO journal", "date": "2011", "authors": "Tang LY, Yamashita M, Coussens NP, Tang Y, Wang X, Li C, Deng CX, Cheng SY, Zhang YE", "evidence": [ { "database": "Reactome", "id": "R-HSA-2173795", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2173795" } ], "reference": [ { "type": "PubMed", "id": "22045334", "url": "https://glygen.org/publication/PubMed/22045334" } ] }, { "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": "P12757", "url": "https://www.uniprot.org/uniprot/P12757" }, { "database": "iPTMnet", "id": "P12757", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P12757" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "System-wide analysis of SUMOylation dynamics in response to replication stress reveals novel small ubiquitin-like modified target proteins and acceptor lysines relevant for genome stability.", "journal": "Mol. Cell. Proteomics", "date": "2015", "authors": "Xiao Zhenyu, Chang Jer-Gung, Hendriks Ivo A, Sigur\u00f0sson J\u00f3n Otti, Olsen Jesper V, Vertegaal Alfred C O", "evidence": [ { "database": "UniProtKB", "id": "C9J8R9", "url": "https://www.uniprot.org/uniprot/C9J8R9" } ], "reference": [ { "type": "PubMed", "id": "25755297", "url": "https://glygen.org/publication/PubMed/25755297" } ] }, { "title": "The role of specific Smad linker region phosphorylation in TGF-beta mediated expression of glycosaminoglycan synthesizing enzymes in vascular smooth muscle.", "journal": "Cellular signalling", "date": "2016", "authors": "Rostam MA, Kamato D, Piva TJ, Zheng W, Little PJ, Osman N", "evidence": [ { "database": "Reactome", "id": "R-HSA-2173795", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2173795" } ], "reference": [ { "type": "PubMed", "id": "27153775", "url": "https://glygen.org/publication/PubMed/27153775" } ] }, { "title": "Isolation of human cDNA clones of ski and the ski-related gene, sno.", "journal": "Nucleic Acids Res.", "date": "1989", "authors": "Nomura N, Sasamoto S, Ishii S, Date T, Matsui M, Ishizaki R", "evidence": [ { "database": "UniProtKB", "id": "P12757", "url": "https://www.uniprot.org/uniprot/P12757" } ], "reference": [ { "type": "PubMed", "id": "2762147", "url": "https://glygen.org/publication/PubMed/2762147" } ] }, { "title": "Thrombin promotes PAI-1 expression and migration in keratinocytes via ERK dependent Smad linker region phosphorylation.", "journal": "Cellular signalling", "date": "2018", "authors": "Talati N, Kamato D, Piva TJ, Little PJ, Osman N", "evidence": [ { "database": "Reactome", "id": "R-HSA-2173795", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2173795" } ], "reference": [ { "type": "PubMed", "id": "29577978", "url": "https://glygen.org/publication/PubMed/29577978" } ] }, { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "P12757", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P12757" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "PIAS1 and TIF1gamma collaborate to promote SnoN SUMOylation and suppression of epithelial-mesenchymal transition.", "journal": "Cell death and differentiation", "date": "2021", "authors": "Chanda A, Ikeuchi Y, Karve K, Sarkar A, Chandhoke AS, Deng L, Bonni A, Bonni S", "evidence": [ { "database": "RefSeq", "id": "NP_001138569", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138569" } ], "reference": [ { "type": "PubMed", "id": "32770107", "url": "https://glygen.org/publication/PubMed/32770107" } ] }, { "title": "SKIL facilitates tumorigenesis and immune escape of NSCLC via upregulating TAZ/autophagy axis.", "journal": "Cell death & disease", "date": "2020", "authors": "Ma F, Ding MG, Lei YY, Luo LH, Jiang S, Feng YH, Liu XL", "evidence": [ { "database": "RefSeq", "id": "NP_001138569", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138569" } ], "reference": [ { "type": "PubMed", "id": "33268765", "url": "https://glygen.org/publication/PubMed/33268765" } ] }, { "title": "ATAD3B and SKIL polymorphisms associated with antipsychotic-induced QTc interval change in patients with schizophrenia: a genome-wide association study.", "journal": "Translational psychiatry", "date": "2022", "authors": "Lu Z, Zhang Y, Yan H, Su Y, Guo L, Liao Y, Lu T, Yu H, Wang L, Li J, Li W, Yang Y, Xiao X, Lv L, Tan Y, Zhang D, Yue W", "evidence": [ { "database": "RefSeq", "id": "NP_001138569", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138569" } ], "reference": [ { "type": "PubMed", "id": "35136033", "url": "https://glygen.org/publication/PubMed/35136033" } ] }, { "title": "An Optimized Isotopic Photocleavable Tagging Strategy for Site-Specific and Quantitative Profiling of Protein O-GlcNAcylation in Colorectal Cancer Metastasis.", "journal": "ACS chemical biology", "date": "2022", "authors": "Liu J, Hao Y, Wang C, Jin Y, Yang Y, Gu J, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "P12757", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P12757" } ], "reference": [ { "type": "PubMed", "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053" } ] }, { "title": "Endo-M Mediated Chemoenzymatic Approach Enables Reversible Glycopeptide Labeling for O-GlcNAcylation Analysis.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2022", "authors": "Chen Y, Tang F, Qin H, Yue X, Nie Y, Huang W, Ye M", "evidence": [ { "database": "O-GlcNAc Database", "id": "P12757", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P12757" } ], "reference": [ { "type": "PubMed", "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036" } ] }, { "title": "SKIL/SnoN attenuates TGF-\u03b21/SMAD signaling-dependent collagen synthesis in hepatic fibrosis.", "journal": "Biomolecules & biomedicine", "date": "2023-11-03", "authors": "Chi Cheng, Liang Xifeng, Cui Tianyu, Gao Xiao, Liu Ruixia, Yin Chenghong", "evidence": [ { "database": "RefSeq", "id": "NP_001138569", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138569" } ], "reference": [ { "type": "PubMed", "id": "37389959", "url": "https://glygen.org/publication/PubMed/37389959" } ] }, { "title": "SnoI, a novel alternatively spliced isoform of the ski proto-oncogene homolog, sno.", "journal": "Nucleic Acids Res.", "date": "1993", "authors": "Pearson-White S", "evidence": [ { "database": "UniProtKB", "id": "P12757", "url": "https://www.uniprot.org/uniprot/P12757" } ], "reference": [ { "type": "PubMed", "id": "8233802", "url": "https://glygen.org/publication/PubMed/8233802" } ] }, { "title": "Proto-oncogene Sno expression, alternative isoforms and immediate early serum response.", "journal": "Nucleic Acids Res.", "date": "1997", "authors": "Pearson-White S, Crittenden R", "evidence": [ { "database": "UniProtKB", "id": "P12757", "url": "https://www.uniprot.org/uniprot/P12757" } ], "reference": [ { "type": "PubMed", "id": "9207045", "url": "https://glygen.org/publication/PubMed/9207045" } ] } ], "pathway": [ { "id": "hsa:6498", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:6498", "resource": "KEGG Pathway" }, { "id": "R-HSA-2173795", "name": "Downregulation of SMAD2/3:SMAD4 transcriptional activity", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2173795", "resource": "Reactome", "description": "Downregulation of SMAD2/3:SMAD4 transcriptional activity" } ], "orthologs": [ { "uniprot_canonical_ac": "D3ZWL1-1", "protein_name": "SKI-like proto-oncogene", "gene_name": "Skil", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MENLQSNFSLVQGSNKKLSGMEDDGSPPVKKMMTDIHANGKTLTQVKKEHLDDYGDASVEPDGEHAKRNCPSLPETLNLNPSLKHTLAQFHLSSQSSLGGPAAFSARYSQESMSPTVFLPLPSPQVLPGPLLIPSDSSTELTQTVLEGESISCFQVGGEKRLCLPQVLNSVLREFSLQQINTVCDELYIYCSRCTSDQLHILKVLGILPFNAPSCGLITLTDAQRLCNALLRPRTFPQNGSILPAKSSWAQLKETGSAFEVEHECLGKCQGLFAPQFYVQPDAPCIQCLECCGMFAPQTFVMHSHRSPDKRTCHWGFESAKWHCYLHVNQKYLGTPEEKKLKIILEEMKEKFSMRNGKRIQSKTDTPSGMELPPWYPVIKQEGDHGPQTHSFLHPSYYLYMCDKVVAPNVSLASAASQSKAVTKAETSKSISKQSEKPHDSSKRQKTVSYPDVSLEEQEKMDLKTSRELYSCLDSSVSNNSTSKKKCESTICDLVRDTDKQGSGASSPLVVRDVTCEDDKGKIVEDVMRTYVRQQEKLSSILQKKQQLQMEVEMLSSSKAMKELTEEQQNLQKELESLQNEHAQRMEEFYIEQRDLEKKLEQVMKQKCTCDSNVEKDKEAEYAAQLAELRQRLDHAEADRQELQDELRQEREARQKLEMMIKELKLQIVKSSKTAKE", "length": 677 }, "evidence": [ { "id": "P12757", "url": "https://omabrowser.org/oma/group/P12757/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q60665-1", "protein_name": "Ski-like protein", "gene_name": "Skil", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MENLQSKFSLVQGSNKKLNGMEDDGSPPVKKMMTDIHANGKTLTKVKKEHLDDYGDASVEPDGEHAKRNRVSLPETLNLNPSLKHTLAQFHLSSQSSLGGPAAFSARYSQESMSPTVFLPLPSPQVLPGPLLIPSDSSTELTQTLLEGESISCFQVGGEKRLCLPQVLNSVLREFSLQQINTVCDELYIYCSRCTSDQLHILKVLGILPFNAPSCGLITLTDAQRLCNALLRPRTFPQNGSILPAKSSLAQLKETGSAFEVEHECLGKCQGLFAPQFYVQPDAPCIQCLECCGMFAPQTFVMHSHRSPDKRTCHWGFESAKWHCYLHVNQKYLGTPEEKKLKIILEEMKEKFSMRNGKRIQSKTDTPSGMELPSWYPVIKQEGDHVPQTHSFLHPSYYLYMCDKVVAPNVSLTSAASQSKEATKAETSKSTSKQSEKPHESSQHQKTVSYPDVSLEEQEKMDLKTSRELYSCLDSSISNNSTSRKKSESAVCSLVRGTSKRDSEDSSPLLVRDGEDDKGKIMEDVMRTYVRQQEKLNSILQRKQQLQMEVEMLSSSKAMKELTEEQQNLQKELESLQSEHAQRMEEFYIEQRDLEKKLEQVMQQKCTCDSTLEKDREAEYAAQLAELRQRLDHAEADRQELQDELRQEREARQKLEMMIKELKLQIGKSSKPSKD", "length": 675 }, "evidence": [ { "id": "45927090", "url": "http://www.informatics.jax.org/homology/45927090", "database": "MGI" }, { "id": "P12757", "url": "https://omabrowser.org/oma/group/P12757/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 8, "go_terms": [ { "name": "SMAD binding", "id": "GO:0046332", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046332", "evidence": [ { "database": "UniProtKB", "id": "P12757", "url": "https://www.uniprot.org/uniprot/P12757" } ], "pmid": "" }, { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "P12757", "url": "https://www.uniprot.org/uniprot/P12757" } ], "pmid": "" }, { "name": "protein domain specific binding", "id": "GO:0019904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019904", "evidence": [ { "database": "UniProtKB", "id": "P12757", "url": "https://www.uniprot.org/uniprot/P12757" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P12757", "url": "https://www.uniprot.org/uniprot/P12757" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "P12757", "url": "https://www.uniprot.org/uniprot/P12757" } ], "pmid": "" }, { "name": "DNA-binding transcription repressor activity, RNA polymerase II-specific", "id": "GO:0001227", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001227", "evidence": [ { "database": "UniProtKB", "id": "P12757", "url": "https://www.uniprot.org/uniprot/P12757" } ], "pmid": "" }, { "name": "RNA polymerase II cis-regulatory region sequence-specific DNA binding", "id": "GO:0000978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000978", "evidence": [ { "database": "UniProtKB", "id": "P12757", "url": "https://www.uniprot.org/uniprot/P12757" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity, RNA polymerase II-specific", "id": "GO:0000981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000981", "evidence": [ { "database": "UniProtKB", "id": "P12757", "url": "https://www.uniprot.org/uniprot/P12757" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 7, "go_terms": [ { "name": "cellular anatomical entity", "id": "GO:0110165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0110165", "evidence": [ { "database": "UniProtKB", "id": "P12757", "url": "https://www.uniprot.org/uniprot/P12757" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P12757", "url": "https://www.uniprot.org/uniprot/P12757" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P12757", "url": "https://www.uniprot.org/uniprot/P12757" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P12757", "url": "https://www.uniprot.org/uniprot/P12757" } ], "pmid": "" }, { "name": "acrosomal vesicle", "id": "GO:0001669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001669", "evidence": [ { "database": "UniProtKB", "id": "P12757", "url": "https://www.uniprot.org/uniprot/P12757" } ], "pmid": "" }, { "name": "PML body", "id": "GO:0016605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016605", "evidence": [ { "database": "UniProtKB", "id": "P12757", "url": "https://www.uniprot.org/uniprot/P12757" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "P12757", "url": "https://www.uniprot.org/uniprot/P12757" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 19, "go_terms": [ { "name": "lymphocyte homeostasis", "id": "GO:0002260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002260", "evidence": [ { "database": "UniProtKB", "id": "P12757", "url": "https://www.uniprot.org/uniprot/P12757" } ], "pmid": "" }, { "name": "negative regulation of transcription by RNA polymerase II", "id": "GO:0000122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000122", "evidence": [ { "database": "UniProtKB", "id": "P12757", "url": "https://www.uniprot.org/uniprot/P12757" } ], "pmid": "" }, { "name": "spermatogenesis", "id": "GO:0007283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007283", "evidence": [ { "database": "UniProtKB", "id": "P12757", "url": "https://www.uniprot.org/uniprot/P12757" } ], "pmid": "" }, { "name": "transforming growth factor beta receptor signaling pathway", "id": "GO:0007179", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007179", "evidence": [ { "database": "UniProtKB", "id": "P12757", "url": "https://www.uniprot.org/uniprot/P12757" } ], "pmid": "" }, { "name": "intrinsic apoptotic signaling pathway in response to DNA damage", "id": "GO:0008630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008630", "evidence": [ { "database": "UniProtKB", "id": "P12757", "url": "https://www.uniprot.org/uniprot/P12757" } ], "pmid": "" }, { "name": "negative regulation of BMP signaling pathway", "id": "GO:0030514", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030514", "evidence": [ { "database": "UniProtKB", "id": "P12757", "url": "https://www.uniprot.org/uniprot/P12757" } ], "pmid": "" }, { "name": "response to cytokine", "id": "GO:0034097", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034097", "evidence": [ { "database": "UniProtKB", "id": "P12757", "url": "https://www.uniprot.org/uniprot/P12757" } ], "pmid": "" }, { "name": "response to antibiotic", "id": "GO:0046677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046677", "evidence": [ { "database": "UniProtKB", "id": "P12757", "url": "https://www.uniprot.org/uniprot/P12757" } ], "pmid": "" }, { "name": "response to growth factor", "id": "GO:0070848", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070848", "evidence": [ { "database": "UniProtKB", "id": "P12757", "url": "https://www.uniprot.org/uniprot/P12757" } ], "pmid": "" }, { "name": "positive regulation of extrinsic apoptotic signaling pathway via death domain receptors", "id": "GO:1902043", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902043", "evidence": [ { "database": "UniProtKB", "id": "P12757", "url": "https://www.uniprot.org/uniprot/P12757" } ], "pmid": "" }, { "name": "positive regulation of axonogenesis", "id": "GO:0050772", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050772", "evidence": [ { "database": "UniProtKB", "id": "P12757", "url": "https://www.uniprot.org/uniprot/P12757" } ], "pmid": "" }, { "name": "negative regulation of cell differentiation", "id": "GO:0045596", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045596", "evidence": [ { "database": "UniProtKB", "id": "P12757", "url": "https://www.uniprot.org/uniprot/P12757" } ], "pmid": "" }, { "name": "negative regulation of transforming growth factor beta receptor signaling pathway", "id": "GO:0030512", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030512", "evidence": [ { "database": "UniProtKB", "id": "P12757", "url": "https://www.uniprot.org/uniprot/P12757" } ], "pmid": "" }, { "name": "extrinsic apoptotic signaling pathway via death domain receptors", "id": "GO:0008625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008625", "evidence": [ { "database": "UniProtKB", "id": "P12757", "url": "https://www.uniprot.org/uniprot/P12757" } ], "pmid": "" }, { "name": "positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage", "id": "GO:1902231", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902231", "evidence": [ { "database": "UniProtKB", "id": "P12757", "url": "https://www.uniprot.org/uniprot/P12757" } ], "pmid": "" }, { "name": "skeletal muscle tissue development", "id": "GO:0007519", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007519", "evidence": [ { "database": "UniProtKB", "id": "P12757", "url": "https://www.uniprot.org/uniprot/P12757" } ], "pmid": "" }, { "name": "regulation of cell cycle", "id": "GO:0051726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051726", "evidence": [ { "database": "UniProtKB", "id": "P12757", "url": "https://www.uniprot.org/uniprot/P12757" } ], "pmid": "" }, { "name": "blastocyst formation", "id": "GO:0001825", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001825", "evidence": [ { "database": "UniProtKB", "id": "P12757", "url": "https://www.uniprot.org/uniprot/P12757" } ], "pmid": "" }, { "name": "lens fiber cell differentiation", "id": "GO:0070306", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070306", "evidence": [ { "database": "UniProtKB", "id": "P12757", "url": "https://www.uniprot.org/uniprot/P12757" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 242, "end_pos": 244, "annotation": "n_glycosylation_sequon" }, { "start_pos": 363, "end_pos": 365, "annotation": "n_glycosylation_sequon" }, { "start_pos": 412, "end_pos": 414, "annotation": "n_glycosylation_sequon" }, { "start_pos": 482, "end_pos": 484, "annotation": "n_glycosylation_sequon" }, { "start_pos": 483, "end_pos": 485, "annotation": "n_glycosylation_sequon" }, { "start_pos": 7, "end_pos": 9, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "Ubiquitinated by RNF111 and ARK2C, promoting proteasomal degradation, leading to enhance the BMP-Smad signaling.", "evidence": [ { "database": "UniProtKB", "id": "P12757", "url": "https://www.uniprot.org/uniprot/P12757" }, { "database": "PubMed", "id": "17591695", "url": "https://glygen.org/publication/PubMed/17591695" } ] } ], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.oma", "label": "OMA Homologs" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [ 72, 74, 75 ], "snv_sites": [ 72, 74, 140, 450, 455, 614 ], "glycation_sites": [], "phosphorylation_sites": [ 26, 426, 452 ], "sequon_annotation_sites": [ { "start_pos": 242, "end_pos": 244 }, { "start_pos": 363, "end_pos": 365 }, { "start_pos": 412, "end_pos": 414 }, { "start_pos": 482, "end_pos": 484 }, { "start_pos": 483, "end_pos": 485 }, { "start_pos": 7, "end_pos": 9 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 3 }, { "field": "total_sites", "count": 3 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 3 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 3 }, { "field": "total_sites", "count": 3 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 3 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 3 }, { "field": "total_sites", "count": 3 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 7 }, { "field": "total_sites", "count": 6 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 7 }, { "field": "total_sites", "count": 6 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 40 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }