{ "uniprot_canonical_ac": "O14512-1", "uniprot_ac": "O14512", "uniprot_id": "SOCS7_HUMAN", "mass": { "chemical_mass": 62969.0, "monoisotopic_mass": 62969.0 }, "refseq": { "ac": "NP_055413", "name": "suppressor of cytokine signaling 7", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055413" }, "gene_names": [ { "name": "SOCS7", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O14512", "id": "O14512" }, { "name": "NAP4; NCKAP4", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055413", "id": "NP_055413" }, { "name": "NAP4", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O14512", "id": "O14512" }, { "name": "SOCS6", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O14512", "id": "O14512" }, { "name": "SOCS7", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055413", "id": "NP_055413" } ], "protein_names": [ { "name": "Suppressor of cytokine signaling 7", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O14512" }, { "name": "NAP-4", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14512" }, { "name": "NCK-associated protein 4; Nck, Ash and phospholipase C binding protein; NAP-4; SOCS-7; nck, Ash and phospholipase C gamma-binding protein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055413", "id": "NP_055413" }, { "name": "Nck, Ash and phospholipase C gamma-binding protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14512" }, { "name": "Nck-associated protein 4", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14512" }, { "name": "SOCS-7", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14512" }, { "name": "suppressor of cytokine signaling 7", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055413", "id": "NP_055413" } ], "function": [ { "annotation": "Lack of association between SOCS3 and SOCS7 polymorphisms and psoriasis.", "evidence": [ { "database": "RefSeq", "id": "NP_055413", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055413" }, { "database": "PubMed", "id": "36169255", "url": "https://glygen.org/publication/PubMed/36169255" } ] }, { "annotation": "Long noncoding RNA UCA1 regulates HCV replication and antiviral response via miR-145-5p/SOCS7/IFN pathway. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_055413", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055413" }, { "database": "PubMed", "id": "34345210", "url": "https://glygen.org/publication/PubMed/34345210" } ] }, { "annotation": "Regulates signaling cascades probably through protein ubiquitination and/or sequestration. Functions in insulin signaling and glucose homeostasis through IRS1 ubiquitination and subsequent proteasomal degradation. Inhibits also prolactin, growth hormone and leptin signaling by preventing STAT3 and STAT5 activation, sequestering them in the cytoplasm and reducing their binding to DNA. May be a substrate recognition component of a SCF-like E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "O14512", "url": "https://www.uniprot.org/uniprot/O14512#function" }, { "database": "PubMed", "id": "15677474", "url": "https://glygen.org/publication/PubMed/15677474" }, { "database": "PubMed", "id": "16127460", "url": "https://glygen.org/publication/PubMed/16127460" } ] }, { "annotation": "SOCS7-Derived BC-Box Motif Peptide Mediated Cholinergic Differentiation of Human Adipose-Derived Mesenchymal Stem Cells. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_055413", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055413" }, { "database": "PubMed", "id": "36769102", "url": "https://glygen.org/publication/PubMed/36769102" } ] }, { "annotation": "The E3 ubiquitin ligase SOCS-7 reverses immunosuppression via Shc1 signaling in hepatocellular carcinoma.", "evidence": [ { "database": "RefSeq", "id": "NP_055413", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055413" }, { "database": "PubMed", "id": "35042950", "url": "https://glygen.org/publication/PubMed/35042950" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs749377899", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749377899" }, { "id": "rs749377899", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749377899" }, { "id": "rs749377899", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs749377899" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 231, "end_pos": 231, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DGT->NGT).", "chr_id": "17", "chr_pos": "38352935", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D231", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs752217886", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752217886" }, { "id": "rs752217886", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752217886" }, { "id": "rs752217886", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs752217886" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 247, "end_pos": 247, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SLT->NLT).", "chr_id": "17", "chr_pos": "38352984", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S247", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs76549267", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs76549267" }, { "id": "rs76549267", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs76549267" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 270, "end_pos": 270, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (TQS->NQS).", "chr_id": "17", "chr_pos": "38361731", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T270", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1555568046", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1555568046" }, { "id": "rs1555568046", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1555568046" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 294, "end_pos": 294, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DIS->NIS).", "chr_id": "17", "chr_pos": "38364778", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D294", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs749081189", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749081189" }, { "id": "rs749081189", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749081189" }, { "id": "rs749081189", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs749081189" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 315, "end_pos": 315, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SLS->NLS).", "chr_id": "17", "chr_pos": "38364842", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S315", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs755069583", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755069583" }, { "id": "rs755069583", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs755069583" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 455, "end_pos": 455, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (TFS->NFS).", "chr_id": "17", "chr_pos": "38377717", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T455", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [ { "start_pos": 425, "end_pos": 427, "sequence_org": "RDS", "sequence_mut": "KDC", "comment": "Loss of IRS1 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"http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "70.75", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000274211", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000274211" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "49.96", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000274211", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000274211" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "78.52", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000274211", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000274211" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "79.28", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000274211", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000274211" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "47.76", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000274211", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000274211" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "79.26", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000274211", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000274211" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "78.6", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000274211", "url": 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"" }, { "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", 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"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 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"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, 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"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 - 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"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", 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"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", 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"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": "No", "trend": "down", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O14512", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14512" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "O14512", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14512" } ], "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": "No", "trend": "down", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "O14512", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14512" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O14512", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14512" } ], "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": "O14512", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14512" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "O14512", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14512" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "O14512", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14512" } ], "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": 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"https://www.ebi.ac.uk/interpro/entry/IPR035866", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036036", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036036", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036860", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036860", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR037346", "url": "https://www.ebi.ac.uk/interpro/entry/IPR037346", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:30837", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:30837", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "608788", "url": "http://www.omim.org/entry/608788", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O14512", "url": "https://www.nextprot.org/entry/NX_O14512", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "O14512", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O14512", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "SHTHIHH", "url": "https://omabrowser.org/oma/group/SHTHIHH/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "5401079at2759", "url": "http://www.orthodb.org/?query=5401079at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR10155", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10155", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR10155:SF5", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10155:SF5", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF00017", "url": "http://pfam.xfam.org/family/PF00017", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF07525", "url": "http://pfam.xfam.org/family/PF07525", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O14512", "url": "https://pharos.nih.gov/targets/O14512", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O14512", "url": "http://purl.obolibrary.org/obo/PR_O14512", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_055413", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055413", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A0A087WZ14", "url": "https://www.uniprot.org/uniprot/A0A087WZ14", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A087WZ14-1", "url": "https://www.uniprot.org/uniprot/A0A087WZ14-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A087X1Q5", "url": "https://www.uniprot.org/uniprot/A0A087X1Q5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A087X1Q5-1", "url": "https://www.uniprot.org/uniprot/A0A087X1Q5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0J9YXY1", "url": "https://www.uniprot.org/uniprot/A0A0J9YXY1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0J9YXY1-1", "url": "https://www.uniprot.org/uniprot/A0A0J9YXY1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A5F9YLF9", "url": "https://www.uniprot.org/uniprot/A0A5F9YLF9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A5F9YLF9-1", "url": "https://www.uniprot.org/uniprot/A0A5F9YLF9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O14512", "url": "https://www.uniprot.org/uniprot/O14512", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O14512-1", "url": "https://www.uniprot.org/uniprot/O14512-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O14512-2", "url": "https://www.uniprot.org/uniprot/O14512-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MVFRNVGRPPEEEDVEAAPEPGPSELLCPRHRCALDPKALPPGLALERTWGPAAGLEAQLAALGLGQPAGPGVKTVGGGCCPCPCPPQPPPPQPQPPAAAPQAGEDPTETSDALLVLEGLESEAESLETNSCSEEELSSPGRGGGGGGRLLLQPPGPELPPVPFPLQDLVPLGRLSRGEQQQQQQQQPPPPPPPPGPLRPLAGPSRKGSFKIRLSRLFRTKSCNGGSGGGDGTGKRPSGELAASAASLTDMGGSAGRELDAGRKPKLTRTQSAFSPVSFSPLFTGETVSLVDVDISQRGLTSPHPPTPPPPPRRSLSLLDDISGTLPTSVLVAPMGSSLQSFPLPPPPPPHAPDAFPRIAPIRAAESLHSQPPQHLQCPLYRPDSSSFAASLRELEKCGWYWGPMNWEDAEMKLKGKPDGSFLVRDSSDPRYILSLSFRSQGITHHTRMEHYRGTFSLWCHPKFEDRCQSVVEFIKRAIMHSKNGKFLYFLRSRVPGLPPTPVQLLYPVSRFSNVKSLQHLCRFRIRQLVRIDHIPDLPLPKPLISYIRKFYYYDPQEEVYLSLKEAQLISKQKQEVEPST", "length": 581, "header": "sp|O14512-1|SOCS7_HUMAN Isoform 1 of Suppressor of cytokine signaling 7 OS=Homo sapiens OX=9606 GN=SOCS7 PE=1 SV=2 CANONICAL=O14512-1" }, "isoforms": [ { "isoform_ac": "A0A087WZ14-1", "url": "", "sequence": { "sequence": "XGKRPSGELAASAASLTDMGGSAGRELDAGRKPKLTRTQSAFSPVSFSPLFTDAFPRIAPIRAAESLHSQPPQHLQCPLYRPDSSSFAASLRELEKCGWYWGPMNWEDAEMKLKGKPDGSFLVRDSSDPRYILSLSFRSQGITHHTRMEHYRGTFSLWCH", "length": 160, "header": "tr|A0A087WZ14-1|A0A087WZ14_HUMAN Computationally mapped isoform of Suppressor of cytokine signaling 7 OS=Homo sapiens OX=9606 GN=SOCS7 PE=1 SV=6 CANONICAL=O14512-1" }, "locus": { "chromosome": "HSCHR17_7_CTG4", "start_pos": 2412630, "end_pos": 2387891, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000632687.1", "url": "https://www.ensembl.org/id/ENST00000632687.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000487855.1", "url": "https://www.ensembl.org/id/ENSP00000487855.1" } ] } }, { "isoform_ac": "A0A087X1Q5-1", "url": "", "sequence": { "sequence": "XRPPQLMVFRNVGRPPEEEDVEAAPEPGPSELLCPRHRCALDPKALPPGLALERTWGPAAGLEAQLAALGLGQPAGPGVKTVGGGCCPCPCPPQPPPPQPQPPAAAPQAGEDPTETSDALLVLEGLESEAESLETNSCSEEELSSPGRGGGGGGRLLLQPPGPELPPVPFPLQDLVPLGRLSRGEQQQQQQQQPPPPPPPPGPLRPLAGPSRKGSFKIRLSRLFRTKSCNGGSGGGDGTGKRPSGELAASAASLTDMGGSAGRELDAGRKPKLTRTQSAFSPVSFSPLFTGETVSLVDVDISQRGLTSPHPPTPPPPPRRSLSLLDAFPRIAPIRAAESLHSQPPQHLQCPLYRPDSSSFAASLRELEKCGWYWGPMNWEDAEMKLKGKPDGSFLVRDSSDPRYILSLSFRSQGITHHTRMEHYRGTFSLWCHPKFEDRCQSVVEFIKRAIMHSKNGKFLYFLRSRVPGLPPTPVQLLYPVSRFSNVKSLQHLCRFRIRQLVRIDHIPDLPLPKPLISYIRKFYYYDPQEEVYLSLKEAQLISKQKQEVEPST", "length": 553, "header": "tr|A0A087X1Q5-1|A0A087X1Q5_HUMAN Computationally mapped isoform of Suppressor of cytokine signaling 7 OS=Homo sapiens OX=9606 GN=SOCS7 PE=1 SV=2 CANONICAL=O14512-1" }, "locus": { "chromosome": "17", "start_pos": 38395966, "end_pos": 38352228, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000613678.5", "url": "https://www.ensembl.org/id/ENST00000613678.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000484381.2", "url": "https://www.ensembl.org/id/ENSP00000484381.2" } ] } }, { "isoform_ac": "A0A0J9YXY1-1", "url": "", "sequence": { "sequence": "MVFRNVGRPPEEEDVEAAPEPGPSELLCPRHRCALDPKALPPGLALERTWGPAAGLEAQLAALGLGQPAGPGVKTVGGGCCPCPCPPQPPPPQPQPPAAAPQAGEDPTETSDALLVLEGLESEAESLETNSCSEEELSSPGRGGGGGGRLLLQPPGPELPPVPFPLQDLVPLGRLSRGEQQQQQQQQPPPPPPPPGPLRPLAGPSRKGSFKIRLSRLFRTKSCNGGSGGGDGTGKRPSGELAASAASLTDMGGSAGRELDAGRKPKLTRTQSAFSPVSFSPLFTGETVSLVDVDISQRGLTSPHPPTPPPPPRRSLSLLDAFPRIAPIRAAESLHSQPPQHLQCPLYRPDSSSFAASLRELEKCGWYWGPMNWEDAEMKLKGKPDGSFLVRDSSDPRYILSLSFRSQGITHHTRMEHYRGTFSLWCHPKFEDRCQSVVEFIKRAIMHSKNGKFLYFLRSRVPGLPPTPVQLLYPVSRFSNVKSLQHLCRFRIRQLVRIDHIPDLPLPKPLISYIRKFYYYDPQEEVYLSLKEAQLISKQKQEVEPST", "length": 547, "header": "tr|A0A0J9YXY1-1|A0A0J9YXY1_HUMAN Computationally mapped isoform of Suppressor of cytokine-signaling 7 OS=Homo sapiens OX=9606 GN=SOCS7 PE=1 SV=1 CANONICAL=O14512-1" }, "locus": { "chromosome": "HSCHR17_7_CTG4", "start_pos": 2431284, "end_pos": 2387193, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000631692.1", "url": "https://www.ensembl.org/id/ENST00000631692.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000488601.1", "url": "https://www.ensembl.org/id/ENSP00000488601.1" } ] } }, { "isoform_ac": "A0A5F9YLF9-1", "url": "", "sequence": { "sequence": "MQEAELRDGEAAAAAASYRVLSRLLGYGEAAPEPGPPPPPPGHGPPPPPFLARPGPRGSRPPQLMVFRNVGRPPEEEDVEAAPEPGPSELLCPRHRCALDPKALPPGLALERTWGPAAGLEAQLAALGLGQPAGPGVKTVGGGCCPCPCPPQPPPPQPQPPAAAPQAGEDPTETSDALLVLEGLESEAESLETNSCSEEELSSPGRGGGGGGRLLLQPPGPELPPVPFPLQDLVPLGRLSRGEQQQQQQQQPPPPPPPPGPLRPLAGPSRKGSFKIRLSRLFRTKSCNGGSGGGDGTGKRPSGELAASAASLTDMGGSAGRELDAGRKPKLTRTQSAFSPVSFSPLFTGETVSLVDVDISQRGLTSPHPPTPPPPPRRSLSLLDDISGTLPTSVLVAPMGSSLQSFPLPPPPPPHAPDAFPRIAPIRAAESLHSQPPQHLQCPLYRPDSSSFAASLRELEKCGWYWGPMNWEDAEMKLKGKPDGSFLVRDSSDPRYILSLSFRSQGITHHTRMEHYRGTFSLWCHPKFEDRCQSVVEFIKRAIMHSKNGKFLYFLRSRVPGLPPTPVQLLYPVSRFSNVKSLQHLCRFRIRQLVRIDHIPDLPLPKPLISYIRKFYYYDPQEEVYLSLKEAQLISKQKQEVEPST", "length": 645, "header": "tr|A0A5F9YLF9-1|A0A5F9YLF9_HUMAN Computationally mapped isoform of Suppressor of cytokine signaling 7 OS=Homo sapiens OX=9606 GN=SOCS7 PE=1 SV=1 CANONICAL=O14512-1" }, "locus": { "chromosome": "17", "start_pos": 38395965, "end_pos": 38352053, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000612932.6", "url": "https://www.ensembl.org/id/ENST00000612932.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000482229.2", "url": "https://www.ensembl.org/id/ENSP00000482229.2" } ] } }, { "isoform_ac": "O14512-1", "url": "", "sequence": { "sequence": "MVFRNVGRPPEEEDVEAAPEPGPSELLCPRHRCALDPKALPPGLALERTWGPAAGLEAQLAALGLGQPAGPGVKTVGGGCCPCPCPPQPPPPQPQPPAAAPQAGEDPTETSDALLVLEGLESEAESLETNSCSEEELSSPGRGGGGGGRLLLQPPGPELPPVPFPLQDLVPLGRLSRGEQQQQQQQQPPPPPPPPGPLRPLAGPSRKGSFKIRLSRLFRTKSCNGGSGGGDGTGKRPSGELAASAASLTDMGGSAGRELDAGRKPKLTRTQSAFSPVSFSPLFTGETVSLVDVDISQRGLTSPHPPTPPPPPRRSLSLLDDISGTLPTSVLVAPMGSSLQSFPLPPPPPPHAPDAFPRIAPIRAAESLHSQPPQHLQCPLYRPDSSSFAASLRELEKCGWYWGPMNWEDAEMKLKGKPDGSFLVRDSSDPRYILSLSFRSQGITHHTRMEHYRGTFSLWCHPKFEDRCQSVVEFIKRAIMHSKNGKFLYFLRSRVPGLPPTPVQLLYPVSRFSNVKSLQHLCRFRIRQLVRIDHIPDLPLPKPLISYIRKFYYYDPQEEVYLSLKEAQLISKQKQEVEPST", "length": 581, "header": "sp|O14512-1|SOCS7_HUMAN Isoform 1 of Suppressor of cytokine signaling 7 OS=Homo sapiens OX=9606 GN=SOCS7 PE=1 SV=2 CANONICAL=O14512-1" }, "locus": { "chromosome": "HSCHR17_7_CTG4", "start_pos": 2431284, "end_pos": 2387193, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000615473.2", "url": "https://www.ensembl.org/id/ENST00000615473.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000480736.1", "url": "https://www.ensembl.org/id/ENSP00000480736.1" } ] } }, { "isoform_ac": "O14512-2", "url": "", "sequence": { "sequence": "MGGSAGRELDAGRKPKLTRTQSAFSPVSFSPLFTGETVSLVDVDISQRGLTSPHPPTPPPPPRRSLSLLDDISGTLPTSVLVAPMGSSLQSFPLPPPPPPHAPDAFPRIAPIRAAESLHSQPPQHLQCPLYRPDSSSFAASLRELEKCGWYWGPMNWEDAEMKLKGKPDGSFLVRDSSDPRYILSLSFRSQGITHHTRMEHYRGTFSLWCHPKFEDRCQSVVEFIKRAIMHSKNGKFLYFLRSRVPGLPPTPVQLLYPVSRFSNVKSLQHLCRFRIRQLVRIDHIPDLPLPKPLISYIRKFYYYDPQEEVYLSLKEAQLISKQKQEVEPST", "length": 331, "header": "sp|O14512-2|SOCS7_HUMAN Isoform 2 of Suppressor of cytokine signaling 7 OS=Homo sapiens OX=9606 GN=SOCS7 PE=1 SV=2 CANONICAL=O14512-1" }, "locus": {} } ], "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": 444, "start_aa": "Thr", "end_pos": 444, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr444", "evidence": [ { "id": "O14512", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O14512" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Expression of SOCS genes in normal and leukemic human leukocytes stimulated by prolactin, growth hormone and cytokines.", "journal": "J. Neuroimmunol.", "date": "2000", "authors": "Dogusan Z, Hooghe-Peters E L, Berus D, Velkeniers B, Hooghe R", "evidence": [ { "database": "UniProtKB", "id": "O14512", "url": "https://www.uniprot.org/uniprot/O14512" } ], "reference": [ { "type": "PubMed", "id": "10969179", "url": "https://glygen.org/publication/PubMed/10969179" } ] }, { "title": "The suppressor of cytokine signaling (SOCS)-7 interacts with the actin cytoskeleton through vinexin.", "journal": "Exp. Cell Res.", "date": "2004", "authors": "Martens Nele, Wery Maxime, Wang Ping, Braet Filip, Gertler Arieh, Hooghe Robert, Vandenhaute Jean, Hooghe-Peters Elisabeth L", "evidence": [ { "database": "UniProtKB", "id": "O14512", "url": "https://www.uniprot.org/uniprot/O14512" } ], "reference": [ { "type": "PubMed", "id": "15242778", "url": "https://glygen.org/publication/PubMed/15242778" } ] }, { "title": "Suppressor of cytokine signaling 7 inhibits prolactin, growth hormone, and leptin signaling by interacting with STAT5 or STAT3 and attenuating their nuclear translocation.", "journal": "The Journal of biological chemistry", "date": "2005-04-08", "authors": "Martens Nele, Uzan Galit, Wery Maxime, Hooghe Robert, Hooghe-Peters Elisabeth L, Gertler Arieh", "evidence": [ { "database": "UniProtKB", "id": "O14512", "url": "https://www.uniprot.org/uniprot/O14512" } ], "reference": [ { "type": "PubMed", "id": "15677474", "url": "https://glygen.org/publication/PubMed/15677474" } ] }, { "title": "Deletion of SOCS7 leads to enhanced insulin action and enlarged islets of Langerhans.", "journal": "The Journal of clinical investigation", "date": "2005", "authors": "Banks AS, Li J, McKeag L, Hribal ML, Kashiwada M, Accili D, Rothman PB", "evidence": [ { "database": "UniProtKB", "id": "O14512", "url": "https://www.uniprot.org/uniprot/O14512" } ], "reference": [ { "type": "PubMed", "id": "16127460", "url": "https://glygen.org/publication/PubMed/16127460" } ] }, { "title": "Septins regulate actin organization and cell-cycle arrest through nuclear accumulation of NCK mediated by SOCS7.", "journal": "Cell", "date": "2007", "authors": "Kremer BE, Adang LA, Macara IG", "evidence": [ { "database": "UniProtKB", "id": "O14512", "url": "https://www.uniprot.org/uniprot/O14512" } ], "reference": [ { "type": "PubMed", "id": "17803907", "url": "https://glygen.org/publication/PubMed/17803907" } ] }, { "title": "Long noncoding RNA UCA1 regulates HCV replication and antiviral response via miR-145-5p/SOCS7/IFN pathway.", "journal": "International journal of biological sciences", "date": "2021", "authors": "Zeng H, Li L, Gao Y, Wu G, Hou Z, Liu S", "evidence": [ { "database": "RefSeq", "id": "NP_055413", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055413" } ], "reference": [ { "type": "PubMed", "id": "34345210", "url": "https://glygen.org/publication/PubMed/34345210" } ] }, { "title": "The E3 ubiquitin ligase SOCS-7 reverses immunosuppression via Shc1 signaling in hepatocellular carcinoma.", "journal": "Laboratory investigation; a journal of technical methods and pathology", "date": "2022", "authors": "Huang P, Zhao Z, Chen Y, Yang B, Xia J", "evidence": [ { "database": "RefSeq", "id": "NP_055413", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055413" } ], "reference": [ { "type": "PubMed", "id": "35042950", "url": "https://glygen.org/publication/PubMed/35042950" } ] }, { "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": "O14512", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O14512" } ], "reference": [ { "type": "PubMed", "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053" } ] }, { "title": "Lack of association between SOCS3 and SOCS7 polymorphisms and psoriasis.", "journal": "Immunity, inflammation and disease", "date": "2022", "authors": "Ozcep M, Atsu N, Solak N, Celik SK", "evidence": [ { "database": "RefSeq", "id": "NP_055413", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055413" } ], "reference": [ { "type": "PubMed", "id": "36169255", "url": "https://glygen.org/publication/PubMed/36169255" } ] }, { "title": "SOCS7-Derived BC-Box Motif Peptide Mediated Cholinergic Differentiation of Human Adipose-Derived Mesenchymal Stem Cells.", "journal": "International journal of molecular sciences", "date": "2023-02-01", "authors": "Kanno Hiroshi, Matsumoto Shutaro, Yoshizumi Tetsuya, Nakahara Kimihiro, Shinonaga Masamichi, Kubo Atsuhiko, Fujii Satoshi, Ishizuka Yasuyuki, Tanaka Masaki, Ichihashi Masamitsu, Murata Hidetoshi", "evidence": [ { "database": "RefSeq", "id": "NP_055413", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055413" } ], "reference": [ { "type": "PubMed", "id": "36769102", "url": "https://glygen.org/publication/PubMed/36769102" } ] }, { "title": "A novel ligand for an SH3 domain of the adaptor protein Nck bears an SH2 domain and nuclear signaling motifs.", "journal": "Biochem. Biophys. Res. Commun.", "date": "1997", "authors": "Matuoka K, Miki H, Takahashi K, Takenawa T", "evidence": [ { "database": "UniProtKB", "id": "O14512", "url": "https://www.uniprot.org/uniprot/O14512" } ], "reference": [ { "type": "PubMed", "id": "9344857", "url": "https://glygen.org/publication/PubMed/9344857" } ] } ], "pathway": [ { "id": "hsa:30837", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:30837", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "Q8VHQ2-1", "protein_name": "Suppressor of cytokine signaling 7", "gene_name": "Socs7", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MVFRNVGRPPEEEDAEAAREPGPSELLCPRHRCALDPKALPPGLALERTWGPVAGLEAQLAALGLGQPAGPGIKTAGGGCCPCPCPPQPPPPQPPPPAAAPQAGEDPTETSDALLVLEGLESEAESLETNSCSEEELSSPGRGGGGVGGRLLLQPPGPELPPVPFPLQDLVPPGRLSRGEQQQQQPPPPPPPPGPLRPLAGPSRKGSFKIRLSRLFRTKSCNGGSGGGDGTGKRPSGDLAASAASLTDMGGSAVRELDTGRKPRLTRTQSAFSPVSFSPLFTGETVSLVDVDISQRGLTSPHPPTPPPPPRRSLSLLDDISGTLPTSVLVAPMGSSLQSFPLPPPPPPHAPDAFPRIAPIRASESLHSQPPQHLQCPLYRPDSSSFAASLRELEKCGWYWGPMNWEDAEMKLKGKPDGSFLVRDSSDPRYILSLSFRSQGITHHTRMEHYRGTFSLWCHPKFEDRCQSVVEFIKRAIMHSKNGKFLYFLRSRVPGLPPTPVQLLYPVSRFSNVKSLQHLCRFRIRQLVRIDHIPDLPLPKPLISYIRKFYYYDPQEEVYLSLKEAQLISKQKQEVEPST", "length": 579 }, "evidence": [ { "id": "45922357", "url": "http://www.informatics.jax.org/homology/45922357", "database": "MGI" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 4, "go_terms": [ { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "O14512", "url": 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