{ "uniprot_canonical_ac": "P12755-1", "uniprot_ac": "P12755", "uniprot_id": "SKI_HUMAN", "mass": { "chemical_mass": 80005.0, "monoisotopic_mass": 80005.0 }, "refseq": { "ac": "NP_003027", "name": "ski oncogene", "summary": "This gene encodes the nuclear protooncogene protein homolog of avian sarcoma viral (v-ski) oncogene. It functions as a repressor of TGF-beta signaling, and may play a role in neural tube development and muscle differentiation. [provided by RefSeq, Oct 2009].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003027" }, "gene_names": [ { "name": "SKI", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P12755", "id": "P12755" }, { "name": "SGS; SKV", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003027", "id": "NP_003027" }, { "name": "SKI", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003027", "id": "NP_003027" } ], "protein_names": [ { "name": "Ski oncogene", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P12755" }, { "name": "Proto-oncogene c-Ski", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P12755" }, { "name": "ski oncogene", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003027", "id": "NP_003027" }, { "name": "ski oncoprotein; proto-oncogene c-Ski; v-ski avian sarcoma viral oncogene homolog; Sloan-Kettering Institute proto-oncogene", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003027", "id": "NP_003027" } ], "function": [ { "annotation": "May play a role in terminal differentiation of skeletal muscle cells but not in the determination of cells to the myogenic lineage. Functions as a repressor of TGF-beta signaling.", "evidence": [ { "database": "UniProtKB", "id": "P12755", "url": "https://www.uniprot.org/uniprot/P12755#function" }, { "database": "PubMed", "id": "19049980", "url": "https://glygen.org/publication/PubMed/19049980" } ] }, { "annotation": "Mutations in SKI in Shprintzen-Goldberg syndrome lead to attenuated TGF-beta responses through SKI stabilization. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_003027", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003027" }, { "database": "PubMed", "id": "33416497", "url": "https://glygen.org/publication/PubMed/33416497" } ] }, { "annotation": "New mutational hotspot in the SKI gene in the context of MFS/TAA molecular diagnosis.", "evidence": [ { "database": "RefSeq", "id": "NP_003027", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003027" }, { "database": "PubMed", "id": "31980905", "url": "https://glygen.org/publication/PubMed/31980905" } ] }, { "annotation": "Nucleotide substitutions at the p.Gly117 and p.Thr180 mutational hot-spots of SKI alter molecular dynamics and may affect cell cycle.", "evidence": [ { "database": "RefSeq", "id": "NP_003027", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003027" }, { "database": "PubMed", "id": "37697026", "url": "https://glygen.org/publication/PubMed/37697026" } ] }, { "annotation": "This gene encodes the nuclear protooncogene protein homolog of avian sarcoma viral (v-ski) oncogene. It functions as a repressor of TGF-beta signaling, and may play a role in neural tube development and muscle differentiation. [provided by RefSeq, Oct 2009].", "evidence": [ { "database": "RefSeq", "id": "NP_003027", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003027" } ] }, { "annotation": "Triplications of chromosome 1p36.3, including the genes GABRD and SKI, are associated with a developmental disorder and a facial gestalt.", "evidence": [ { "database": "RefSeq", "id": "NP_003027", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003027" }, { "database": "PubMed", "id": "37129290", "url": "https://glygen.org/publication/PubMed/37129290" } ] } ], "disease": [ { "disease_id": "DOID:2340", "recommended_name": { "id": "DOID:2340", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2340", "name": "craniosynostosis", "description": "A synostosis that results_in premature fusion located_in skull." }, "synonyms": [ { "id": "DOID:2340", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2340", "name": "Premature closure of cranial sutures", "description": "" }, { "id": "MONDO:0014128", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014128", "name": "TCF12-related craniosynostosis", "description": "Any syndromic craniosynostosis in which the cause of the disease is a mutation in the TCF12 gene." }, { "id": "MONDO:0014128", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014128", "name": "TCF12 craniosynostosis", "description": "" }, { "id": "MONDO:0014128", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014128", "name": "TCF12-related craniosynostosis", "description": "" }, { "id": "MONDO:0014128", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014128", "name": "craniosynostosis 3", "description": "" }, { "id": "MONDO:0014128", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014128", "name": "craniosynostosis caused by mutation in TCF12", "description": "" }, { "id": "MONDO:0014128", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014128", "name": "craniosynostosis type 3", "description": "" }, { "id": "MONDO:0014128", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014128", "name": "CRS3", "description": "" }, { "id": "MONDO:0011481", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011481", "name": "craniosynostosis 2", "description": "A form of syndromic craniosynostosis, characterized by a highly variable craniosynostosis with frontal bossing, turribrachycephaly and cloverleaf skull anomaly. Hypoplasia of the supraorbital ridges, cleft palate, extra teeth and limb anomalies (triphalangeal thumb, 3-4 syndactyly of the hands, a short first metatarsal, middle phalangeal agenesis in the feet) have also been described. Associated problems include headache, poor vision, and seizures. Intelligence is normal." }, { "id": "MONDO:0011481", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011481", "name": "CRS2", "description": "" }, { "id": "MONDO:0011481", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011481", "name": "MSX2-related craniosynostosis", "description": "" }, { "id": "MONDO:0011481", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011481", "name": "Warman-Mulliken-Hayward syndrome", "description": "" }, { "id": "MONDO:0011481", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011481", "name": "craniosynostosis 2", "description": "" }, { "id": "MONDO:0011481", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011481", "name": "craniosynostosis type 2", "description": "" }, { "id": "MONDO:0011481", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011481", "name": "craniosynostosis, Warman type", "description": "" }, { "id": "MONDO:0011481", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011481", "name": "Warman Mulliken Hayward syndrome", "description": "" }, { "id": "MONDO:0011481", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011481", "name": "craniosynostosis Warman type", "description": "" }, { "id": "MONDO:0010929", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010929", "name": "craniosynostosis 4", "description": "Any craniosynostosis in which the cause of the disease is a mutation in the ERF gene." }, { "id": "MONDO:0010929", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010929", "name": "ERF craniosynostosis", "description": "" }, { "id": "MONDO:0010929", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010929", "name": "ERF-related craniosynostosis", "description": "" }, { "id": "MONDO:0010929", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010929", "name": "craniosynostosis 4", "description": "" }, { "id": "MONDO:0010929", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010929", "name": "craniosynostosis caused by mutation in ERF", "description": "" }, { "id": "MONDO:0010929", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010929", "name": "craniosynostosis type 4", "description": "" }, { "id": "MONDO:0010929", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010929", "name": "CRS4", "description": "" }, { "id": "MONDO:0010903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010903", "name": "craniosynostosis, Adelaide type", "description": "" }, { "id": "MONDO:0010903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010903", "name": "craniosynostosis, Adelaide type", "description": "" }, { "id": "MONDO:0010903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010903", "name": "CRSA", "description": "" }, { "id": "MONDO:0008426", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008426", "name": "Shprintzen-Goldberg syndrome", "description": "Shprintzen-Goldberg syndrome (SGS) is a very rare genetic disorder characterized by craniosynostosis, craniofacial and skeletal abnormalities, marfanoid habitus, cardiac anomalies, neurological abnormalities, and intellectual disability." }, { "id": "MONDO:0008426", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008426", "name": "Marfanoid craniosynostosis syndrome", "description": "" }, { "id": "MONDO:0008426", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008426", "name": "SGS", "description": "" }, { "id": "MONDO:0008426", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008426", "name": "Shprintzen-Goldberg syndrome", "description": "" }, { "id": "MONDO:0008426", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008426", "name": "Marfanoid disorder with craniosynostosis type 1", "description": "" }, { "id": "MONDO:0008426", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008426", "name": "Marfanoid disorder with craniosynostosis, type 1", "description": "" }, { "id": "MONDO:0008426", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008426", "name": "Marfanoid-craniosynostosis syndrome", "description": "" }, { "id": "MONDO:0008426", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008426", "name": "Shprintzen-Goldberg craniosynostosis syndrome", "description": "" }, { "id": "MONDO:0008426", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008426", "name": "Shprintzen-Goldberg marfanoid syndrome", "description": "" }, { "id": "MONDO:0008426", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008426", "name": "craniosynostosis with arachnodactyly and abdominal hernias", "description": "" }, { "id": "MONDO:0007399", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007399", "name": "TWIST1-related craniosynostosis", "description": "Any craniosynostosis in which the cause of the disease is a mutation in the TWIST1 gene." }, { "id": "MONDO:0007399", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007399", "name": "TWIST1-related craniosynostosis", "description": "" }, { "id": "MONDO:0007399", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007399", "name": "craniosynostosis 1", "description": "" }, { "id": "MONDO:0007399", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007399", "name": "craniosynostosis type 1", "description": "" }, { "id": "MONDO:0007399", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007399", "name": "CRS", "description": "" }, { "id": "MONDO:0007399", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007399", "name": "CRS1", "description": "" }, { "id": "MONDO:0007399", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007399", "name": "craniostenosis", "description": "" }, { "id": "MIM:615314", "resource": "MIM", "url": "https://www.omim.org/entry/615314", "name": "Craniosynostosis 3", "description": "Craniosynostosis 3" }, { "id": "MIM:604757", "resource": "MIM", "url": "https://www.omim.org/entry/604757", "name": "Craniosynostosis 2", "description": "Craniosynostosis 2" }, { "id": "MIM:600775", "resource": "MIM", "url": "https://www.omim.org/entry/600775", "name": "Craniosynostosis 4", "description": "Craniosynostosis 4" }, { "id": "MIM:182212", "resource": "MIM", "url": "https://www.omim.org/entry/182212", "name": "Shprintzen-Goldberg craniosynostosis syndrome", "description": "Shprintzen-Goldberg craniosynostosis syndrome" }, { "id": "MIM:123100", "resource": "MIM", "url": "https://www.omim.org/entry/123100", "name": "Craniosynostosis 1", "description": "Craniosynostosis 1" } ], "evidence": [ { "id": "182212", "database": "MIM", "url": "https://www.omim.org/entry/182212" } ] } ], "snv": [ { "evidence": [ { "id": "rs771862077", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771862077" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 420, "end_pos": 420, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NVA->NVT).", "chr_id": "1", "chr_pos": "2303886", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A420", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:2340", "recommended_name": { "id": "DOID:2340", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2340", "name": "craniosynostosis", "description": "A synostosis that results_in premature fusion located_in skull." }, "synonyms": [ { "id": "DOID:2340", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2340", "name": "Premature closure of cranial sutures", "description": "" }, { "id": "MONDO:0014128", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014128", "name": "TCF12-related craniosynostosis", "description": "Any syndromic craniosynostosis in which the cause of the disease is a mutation in the TCF12 gene." }, { "id": "MONDO:0014128", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014128", "name": "TCF12 craniosynostosis", "description": "" }, { "id": "MONDO:0014128", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014128", "name": "TCF12-related craniosynostosis", "description": "" }, { "id": "MONDO:0014128", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014128", "name": "craniosynostosis 3", "description": "" }, { "id": "MONDO:0014128", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014128", "name": "craniosynostosis caused by mutation in TCF12", "description": "" }, { "id": "MONDO:0014128", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014128", "name": "craniosynostosis type 3", "description": "" }, { "id": "MONDO:0014128", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014128", "name": "CRS3", "description": "" }, { "id": "MONDO:0011481", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011481", "name": "craniosynostosis 2", "description": "A form of syndromic craniosynostosis, characterized by a highly variable craniosynostosis with frontal bossing, turribrachycephaly and cloverleaf skull anomaly. Hypoplasia of the supraorbital ridges, cleft palate, extra teeth and limb anomalies (triphalangeal thumb, 3-4 syndactyly of the hands, a short first metatarsal, middle phalangeal agenesis in the feet) have also been described. Associated problems include headache, poor vision, and seizures. Intelligence is normal." }, { "id": "MONDO:0011481", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011481", "name": "CRS2", "description": "" }, { "id": "MONDO:0011481", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011481", "name": "MSX2-related craniosynostosis", "description": "" }, { "id": "MONDO:0011481", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011481", "name": "Warman-Mulliken-Hayward syndrome", "description": "" }, { "id": "MONDO:0011481", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011481", "name": "craniosynostosis 2", "description": "" }, { "id": "MONDO:0011481", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011481", "name": "craniosynostosis type 2", "description": "" }, { "id": "MONDO:0011481", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011481", "name": "craniosynostosis, Warman type", "description": "" }, { "id": "MONDO:0011481", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011481", "name": "Warman Mulliken Hayward syndrome", "description": "" }, { "id": "MONDO:0011481", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011481", "name": "craniosynostosis Warman type", "description": "" }, { "id": "MONDO:0010929", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010929", "name": "craniosynostosis 4", "description": "Any craniosynostosis in which the cause of the disease is a mutation in the ERF gene." }, { "id": "MONDO:0010929", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010929", "name": "ERF craniosynostosis", "description": "" }, { "id": "MONDO:0010929", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010929", "name": "ERF-related craniosynostosis", "description": "" }, { "id": "MONDO:0010929", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010929", "name": "craniosynostosis 4", "description": "" }, { "id": "MONDO:0010929", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010929", "name": "craniosynostosis caused by mutation in ERF", "description": "" }, { "id": "MONDO:0010929", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010929", "name": "craniosynostosis type 4", "description": "" }, { "id": "MONDO:0010929", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010929", "name": "CRS4", "description": "" }, { "id": "MONDO:0010903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010903", "name": "craniosynostosis, Adelaide type", "description": "" }, { "id": "MONDO:0010903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010903", "name": "craniosynostosis, Adelaide type", "description": "" }, { "id": "MONDO:0010903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010903", "name": "CRSA", "description": "" }, { "id": "MONDO:0008426", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008426", "name": "Shprintzen-Goldberg syndrome", "description": "Shprintzen-Goldberg syndrome (SGS) is a very rare genetic disorder characterized by craniosynostosis, craniofacial and skeletal abnormalities, marfanoid habitus, cardiac anomalies, neurological abnormalities, and intellectual disability." }, { "id": "MONDO:0008426", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008426", "name": "Marfanoid craniosynostosis syndrome", "description": "" }, { "id": "MONDO:0008426", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008426", "name": "SGS", "description": "" }, { "id": "MONDO:0008426", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008426", "name": "Shprintzen-Goldberg syndrome", "description": "" }, { "id": "MONDO:0008426", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008426", "name": "Marfanoid disorder with craniosynostosis type 1", "description": "" }, { "id": "MONDO:0008426", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008426", "name": "Marfanoid disorder with craniosynostosis, type 1", "description": "" }, { "id": "MONDO:0008426", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008426", "name": "Marfanoid-craniosynostosis syndrome", "description": "" }, { "id": "MONDO:0008426", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008426", "name": "Shprintzen-Goldberg craniosynostosis syndrome", "description": "" }, { "id": "MONDO:0008426", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008426", "name": "Shprintzen-Goldberg marfanoid syndrome", "description": "" }, { "id": "MONDO:0008426", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008426", "name": "craniosynostosis with arachnodactyly and abdominal hernias", "description": "" }, { "id": "MONDO:0007399", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007399", "name": "TWIST1-related craniosynostosis", "description": "Any craniosynostosis in which the cause of the disease is a mutation in the TWIST1 gene." }, { "id": "MONDO:0007399", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007399", "name": "TWIST1-related craniosynostosis", "description": "" }, { "id": "MONDO:0007399", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007399", "name": "craniosynostosis 1", "description": "" }, { "id": "MONDO:0007399", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007399", "name": "craniosynostosis type 1", "description": "" }, { "id": "MONDO:0007399", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007399", "name": "CRS", "description": "" }, { "id": "MONDO:0007399", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007399", "name": "CRS1", "description": "" }, { "id": "MONDO:0007399", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007399", "name": "craniostenosis", "description": "" }, { "id": "MIM:615314", "resource": "MIM", "url": "https://www.omim.org/entry/615314", "name": "Craniosynostosis 3", "description": "Craniosynostosis 3" }, { "id": "MIM:604757", "resource": "MIM", "url": "https://www.omim.org/entry/604757", "name": "Craniosynostosis 2", "description": "Craniosynostosis 2" }, { "id": "MIM:600775", "resource": "MIM", "url": "https://www.omim.org/entry/600775", "name": "Craniosynostosis 4", "description": "Craniosynostosis 4" }, { "id": "MIM:182212", "resource": "MIM", "url": "https://www.omim.org/entry/182212", "name": "Shprintzen-Goldberg craniosynostosis syndrome", "description": "Shprintzen-Goldberg craniosynostosis syndrome" }, { "id": "MIM:123100", "resource": "MIM", "url": "https://www.omim.org/entry/123100", "name": "Craniosynostosis 1", "description": "Craniosynostosis 1" } ] } ] }, { "evidence": [ { "id": "P12755", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P12755" } ], "glycoeffect": [], "start_pos": 423, "end_pos": 423, "subjects_tested": "92", "subjects_positive": "1", "frequency": "1.1", "sequence_org": "P", "sequence_mut": "L", "comment": "Somatic mutation passed 1 out of 6 filters: patient freq. (1.1%). In dbSNP: rs752779978.", "chr_id": "1", "chr_pos": "2303896", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "P423", "keywords": [ "biomuta", "somatic", "cancer" ] }, { "evidence": [ { "id": "rs972347914", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs972347914" }, { "id": "rs972347914", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs972347914" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 440, "end_pos": 440, "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->F).", "chr_id": "1", "chr_pos": "2303947", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S440", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1184378281", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1184378281" }, { "id": "rs1184378281", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1184378281" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 440, "end_pos": 440, "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->P).", "chr_id": "1", "chr_pos": "2303946", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S440", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1410238560", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1410238560" }, { "id": "rs1410238560", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1410238560#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 478, "end_pos": 478, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KDS->NDS).", "chr_id": "1", "chr_pos": "2304062", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K478", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "72.78", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000157933", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000157933" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "74.66", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000157933", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000157933" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "71.72", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000157933", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000157933" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "49.96", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000157933", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000157933" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "93.15", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000157933", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000157933" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "81.66", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000157933", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000157933" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "47.76", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000157933", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000157933" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "90.99", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000157933", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000157933" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "90.14", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000157933", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000157933" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "47.6", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000157933", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000157933" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "83.23", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000157933", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000157933" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "88.58", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000157933", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000157933" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "90.46", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000157933", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000157933" } ] } ], "expression_disease": [ { "significant": "No", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P12755", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P12755" } ], "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 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"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", 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"MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", 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"end_pos": 389, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser389", "evidence": [ { "id": "P12755", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P12755" }, { "id": "28657654", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28657654" }, { "id": "37340703", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37340703" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "P12755", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P12755" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 440, "start_aa": "Ser", "end_pos": 440, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser440", "evidence": [ { "id": "P12755", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P12755" }, { "id": "28657654", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28657654" }, { "id": "37340703", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37340703" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "P12755", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P12755" }, { "id": "32938750", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32938750" } ] } ], "phosphorylation": [ { "start_pos": 383, "end_pos": 383, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P12755", "url": "https://www.uniprot.org/uniprot/P12755" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "P12755", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P12755" }, { "database": "PubMed", "id": "27869121", "url": "" }, { "database": "PubMed", "id": "31848261", "url": "" } ], "site_lbl": "Ser383" }, { "start_pos": 432, "end_pos": 432, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P12755", "url": "https://www.uniprot.org/uniprot/P12755" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "P12755", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P12755" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ], "site_lbl": "Ser432" }, { "start_pos": 458, "end_pos": 458, "kinase_uniprot_canonical_ac": "P31749-1", "kinase_gene_name": "AKT1", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P12755", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P12755" }, { "database": "PubMed", "id": "19875456", "url": "https://glygen.org/publication/PubMed/19875456" } ], "site_lbl": "Thr458" }, { "start_pos": 458, "end_pos": 458, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P12755", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P12755" }, { "database": "PubMed", "id": "19875456", "url": "https://glygen.org/publication/PubMed/19875456" } ], "site_lbl": "Thr458" }, { "start_pos": 480, "end_pos": 480, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P12755", "url": "https://www.uniprot.org/uniprot/P12755" }, { "database": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" }, { "database": "iPTMnet", "id": "P12755", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P12755" } ], "site_lbl": "Ser480" }, { "start_pos": 720, "end_pos": 720, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P12755", "url": "https://www.uniprot.org/uniprot/P12755" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "P12755", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P12755" } ], "site_lbl": "Ser720" } ], "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": "A SMAD ubiquitin ligase targets the BMP pathway and affects embryonic pattern formation.", "journal": "Nature", "date": "1999", "authors": "Zhu H, Kavsak P, Abdollah S, Wrana JL, Thomsen GH", "evidence": [ { "database": "Reactome", "id": "R-HSA-201451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201451" } ], "reference": [ { "type": "PubMed", "id": "10458166", "url": "https://glygen.org/publication/PubMed/10458166" } ] }, { "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": "Bone morphogenetic protein receptor complexes on the surface of live cells: a new oligomerization mode for serine/threonine kinase receptors.", "journal": "Molecular biology of the cell", "date": "2000", "authors": "Gilboa L, Nohe A, Geissendorfer T, Sebald W, Henis YI, Knaus P", "evidence": [ { "database": "Reactome", "id": "R-HSA-201451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201451" } ], "reference": [ { "type": "PubMed", "id": "10712517", "url": "https://glygen.org/publication/PubMed/10712517" } ] }, { "title": "Smurf2 is a ubiquitin E3 ligase mediating proteasome-dependent degradation of Smad2 in transforming growth factor-beta signaling.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Lin X, Liang M, Feng XH", "evidence": [ { "database": "Reactome", "id": "R-HSA-201451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201451" } ], "reference": [ { "type": "PubMed", "id": "11016919", "url": "https://glygen.org/publication/PubMed/11016919" } ] }, { "title": "Ski represses bone morphogenic protein signaling in Xenopus and mammalian cells.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2000", "authors": "Wang W, Mariani FV, Harland RM, Luo K", "evidence": [ { "database": "Reactome", "id": "R-HSA-201451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201451" } ], "reference": [ { "type": "PubMed", "id": "11121043", "url": "https://glygen.org/publication/PubMed/11121043" } ] }, { "title": "Regulation of Smad degradation and activity by Smurf2, an E3 ubiquitin ligase.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2001", "authors": "Zhang Y, Chang C, Gehling DJ, Hemmati-Brivanlou A, Derynck R", "evidence": [ { "database": "Reactome", "id": "R-HSA-201451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201451" } ], "reference": [ { "type": "PubMed", "id": "11158580", "url": "https://glygen.org/publication/PubMed/11158580" } ] }, { "title": "Smurf1 interacts with transforming growth factor-beta type I receptor through Smad7 and induces receptor degradation.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Ebisawa T, Fukuchi M, Murakami G, Chiba T, Tanaka K, Imamura T, Miyazono K", "evidence": [ { "database": "Reactome", "id": "R-HSA-201451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201451" } ], "reference": [ { "type": "PubMed", "id": "11278251", "url": "https://glygen.org/publication/PubMed/11278251" } ] }, { "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": "Nucleocytoplasmic shuttling of Smad1 conferred by its nuclear localization and nuclear export signals.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Xiao Z, Watson N, Rodriguez C, Lodish HF", "evidence": [ { "database": "Reactome", "id": "R-HSA-201451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201451" } ], "reference": [ { "type": "PubMed", "id": "11509558", "url": "https://glygen.org/publication/PubMed/11509558" } ] }, { "title": "Proteasomal degradation of Smad1 induced by bone morphogenetic proteins.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Gruendler C, Lin Y, Farley J, Wang T", "evidence": [ { "database": "Reactome", "id": "R-HSA-201451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201451" } ], "reference": [ { "type": "PubMed", "id": "11571290", "url": "https://glygen.org/publication/PubMed/11571290" } ] }, { "title": "The mode of bone morphogenetic protein (BMP) receptor oligomerization determines different BMP-2 signaling pathways.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Nohe A, Hassel S, Ehrlich M, Neubauer F, Sebald W, Henis YI, Knaus P", "evidence": [ { "database": "Reactome", "id": "R-HSA-201451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201451" } ], "reference": [ { "type": "PubMed", "id": "11714695", "url": "https://glygen.org/publication/PubMed/11714695" } ] }, { "title": "Structural basis of Smad1 activation by receptor kinase phosphorylation.", "journal": "Molecular cell", "date": "2001", "authors": "Qin BY, Chacko BM, Lam SS, de Caestecker MP, Correia JJ, Lin K", "evidence": [ { "database": "Reactome", "id": "R-HSA-201451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201451" } ], "reference": [ { "type": "PubMed", "id": "11779505", "url": "https://glygen.org/publication/PubMed/11779505" } ] }, { "title": "Smurf1 regulates the inhibitory activity of Smad7 by targeting Smad7 to the plasma membrane.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Suzuki C, Murakami G, Fukuchi M, Shimanuki T, Shikauchi Y, Imamura T, Miyazono K", "evidence": [ { "database": "Reactome", "id": "R-HSA-201451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201451" } ], "reference": [ { "type": "PubMed", "id": "12151385", "url": "https://glygen.org/publication/PubMed/12151385" } ] }, { "title": "Chromosomal region maintenance 1 (CRM1)-dependent nuclear export of Smad ubiquitin regulatory factor 1 (Smurf1) is essential for negative regulation of transforming growth factor-beta signaling by Smad7.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Tajima Y, Goto K, Yoshida M, Shinomiya K, Sekimoto T, Yoneda Y, Miyazono K, Imamura T", "evidence": [ { "database": "Reactome", "id": "R-HSA-201451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201451" } ], "reference": [ { "type": "PubMed", "id": "12519765", "url": "https://glygen.org/publication/PubMed/12519765" } ] }, { "title": "An extended bipartite nuclear localization signal in Smad4 is required for its nuclear import and transcriptional activity.", "journal": "Oncogene", "date": "2003", "authors": "Xiao Z, Latek R, Lodish HF", "evidence": [ { "database": "Reactome", "id": "R-HSA-201451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201451" } ], "reference": [ { "type": "PubMed", "id": "12592392", "url": "https://glygen.org/publication/PubMed/12592392" } ] }, { "title": "A novel nuclear export signal in Smad1 is essential for its signaling activity.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Xiao Z, Brownawell AM, Macara IG, Lodish HF", "evidence": [ { "database": "Reactome", "id": "R-HSA-201451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201451" } ], "reference": [ { "type": "PubMed", "id": "12821673", "url": "https://glygen.org/publication/PubMed/12821673" } ] }, { "title": "Cooperative inhibition of bone morphogenetic protein signaling by Smurf1 and inhibitory Smads.", "journal": "Molecular biology of the cell", "date": "2003", "authors": "Murakami G, Watabe T, Takaoka K, Miyazono K, Imamura T", "evidence": [ { "database": "Reactome", "id": "R-HSA-201451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201451" } ], "reference": [ { "type": "PubMed", "id": "12857866", "url": "https://glygen.org/publication/PubMed/12857866" } ] }, { "title": "Requirement of the co-repressor homeodomain-interacting protein kinase 2 for ski-mediated inhibition of bone morphogenetic protein-induced transcriptional activation.", "journal": "J. Biol. 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"`Two Birds One Stone` Strategy for the Site-Specific Analysis of Core Fucosylation and O-GlcNAcylation.", "journal": "Journal of the American Chemical Society", "date": "2023-07-26", "authors": "Luo Yawen, Wang Yuqiu, Tian Yinping, Zhou Hu, Wen Liuqing", "evidence": [ { "database": "O-GlcNAc Database", "id": "P12755", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P12755" } ], "reference": [ { "type": "PubMed", "id": "37340703", "url": "https://glygen.org/publication/PubMed/37340703" } ] }, { "title": "Nucleotide substitutions at the p.Gly117 and p.Thr180 mutational hot-spots of SKI alter molecular dynamics and may affect cell cycle.", "journal": "Journal of human genetics", "date": "2024-01", "authors": "Fusco Carmela, Nardella Grazia, Morlino Silvia, Micale Lucia, Tragni Vincenzo, Agolini Emanuele, Novelli Antonio, Massuras Stefania, Giambra Vincenzo, Pierri Ciro Leonardo, Castori Marco", "evidence": [ { "database": "RefSeq", "id": "NP_003027", "url": 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"authors": "Hoodless PA, Haerry T, Abdollah S, Stapleton M, O'Connor MB, Attisano L, Wrana JL", "evidence": [ { "database": "Reactome", "id": "R-HSA-201451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201451" } ], "reference": [ { "type": "PubMed", "id": "8653785", "url": "https://glygen.org/publication/PubMed/8653785" } ] }, { "title": "Partnership between DPC4 and SMAD proteins in TGF-beta signalling pathways.", "journal": "Nature", "date": "1996", "authors": "Lagna G, Hata A, Hemmati-Brivanlou A, Massague J", "evidence": [ { "database": "Reactome", "id": "R-HSA-201451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201451" } ], "reference": [ { "type": "PubMed", "id": "8893010", "url": "https://glygen.org/publication/PubMed/8893010" } ] }, { "title": "The TGF-beta family mediator Smad1 is phosphorylated directly and activated functionally by the BMP receptor kinase.", "journal": "Genes & development", "date": "1997", "authors": "Kretzschmar M, Liu F, Hata A, Doody J, Massague J", "evidence": [ { "database": "Reactome", "id": "R-HSA-201451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201451" } ], "reference": [ { "type": "PubMed", "id": "9136927", "url": "https://glygen.org/publication/PubMed/9136927" } ] }, { "title": "Smad6 inhibits BMP/Smad1 signaling by specifically competing with the Smad4 tumor suppressor.", "journal": "Genes & development", "date": "1998", "authors": "Hata A, Lagna G, Massague J, Hemmati-Brivanlou A", "evidence": [ { "database": "Reactome", "id": "R-HSA-201451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201451" } ], "reference": [ { "type": "PubMed", "id": "9436979", "url": "https://glygen.org/publication/PubMed/9436979" } ] } ], "pathway": [ { "id": "hsa:6497", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:6497", "resource": "KEGG Pathway" }, { "id": "R-HSA-201451", "name": "Signaling by BMP", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201451", "resource": "Reactome", "description": "Signaling by BMP" }, { "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": "A0A0G2K628-1", "protein_name": "Ski oncogene", "gene_name": "Ski", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MEAAAAGRGGFQPHPGLQKTLEQFHLSSMSSLGGPAAFSARWAQEAYKKESAKEAGAATVPAPVPTAAEPPPVLHLPAIQPPPPVLPGPFFMPSDRSTERCETVLEGETISCFVVGGEKRLCLPQILNSVLRDFSLQQINSVCDELHIYCSRCTADQLEILKVMGILPFSAPSCGLITKTDAERLCNALLYGGAYPPPCKKELAASLALGLELSERSVRVYHECFGKCKGLLVPELYSSPSAACIQCLDCRLMYPPHKFVVHSHKALENRTCHWGFDSANWRAYILLSQDYTGKEEQARLGRCLDDVKEKFDYANKYKRRVPRVSEPPASIRPKTDDTSSQSPASSEKDKQSTWLRTLAGSSNKSLGCAHPRQRLSAFRPWSPAVSASEKETSPHLPALIRDSFYSYKSFETAVAPNVALAPPTQQKVVNSPPCTTVVSRAPEPLTTCIQPRKRKLTMDAPGAPDMLTPVAAAEEDKDSEAEVEVESREEFTSSLSSLSSPSFTSSSSAKDLSSPGMHAPPVAAPDAAAHADAPSGLEAELEHLRQALEGGLDTKEAKEKFLHEVVKMRVKQEEKLTAALQAKRSLHQELEFLRVAKKEKLREATEAKRSLRKEIERLRAENEKKMKEANESRVRLKRELEQARQVRVCDKGCEAGRLRAKYSAQIEDLQAKLQHAEADREQLRADLLREREAREHLEKVVKELQEQLWPRPRPENSGGESNAELDP", "length": 727 }, "evidence": [ { "id": "P12755", "url": "https://omabrowser.org/oma/group/P12755/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "A0A287AGC8-1", "protein_name": "Ski oncogene", "gene_name": "SKI", "tax_id": 9823, "organism": "Sus scrofa", "sequence": { "sequence": "MEAAAGGRGGFQPHPGLQKTLEQFHLSSMSSLGGPAAFSARWAQEAYKKESAKEAGAAAVPAPVPAAAEPPPVLHLPAIQPPPPVLPGPFFMPSDRSTERCETVLEGETISCFVVGGEKRLCLPQILNSVLRDFSLQQINSVCDELHIYCSRCTADQLEILKVMGILPFSAPSCGLITKTDAERLCNALLYGGAYPPPCKQELAASLALGLERSERSVRVYHECFGKCKGLLVPELYSSPSAACIQCLDCSLLYPPHKFVVHSHKALENRTCHWGFDSANWRAYILLSQDYTGKEEQARLGRCLDDVKEKFDYGNKYKRRAPRVSEPPASIRKADDAPSQHPTSSEKEKQPGWLRTLAGSSSKSLGCVHPRQRLSAFRPWSPAVSASDKELSPHLPALIRDSFYSYKSFEAGVAPNVALAPPAQHKVSSPPCTTVVSRAPEPLATCIQPRKRKLTLDTAGASETPAPAAAPEDDKDSEAEVEVESREEFTSSLSSLSSPSFTSSSSAKDLSSPGVLAPPAAPPAPDATAAADAPSSGLEAELEHLRQALEGGLDTKEAKEKFLHEVVKMRVKQEEKLSAALQAKRSLHQELEFLRVAKKEKLREATEAKRSLRKEIERLRAENEKKMKEANEARLRLKRELEQARQARVCDKGCEAGRLRAKYSAQIEDLQVKLQHAEADREQLRADLLREREAREHLEKVVKGLQEQLWPRPHNEAPGSENTAELEP", "length": 728 }, "evidence": [ { "id": "P12755", "url": "https://omabrowser.org/oma/group/P12755/", "database": "OMA" } ], "common_name": "Pig" }, { "uniprot_canonical_ac": "Q60698-1", "protein_name": "Ski oncogene", 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"categories": [ { "name": "Biological Process", "total": 31, "go_terms": [ { "name": "nose morphogenesis", "id": "GO:0043585", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043585", "evidence": [ { "database": "UniProtKB", "id": "P12755", "url": "https://www.uniprot.org/uniprot/P12755" } ], "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": "P12755", "url": "https://www.uniprot.org/uniprot/P12755" } ], "pmid": "" }, { "name": "negative regulation of cell population proliferation", "id": "GO:0008285", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008285", "evidence": [ { "database": "UniProtKB", "id": "P12755", "url": "https://www.uniprot.org/uniprot/P12755" } ], "pmid": "" }, { "name": "positive regulation of transcription by RNA polymerase II", "id": "GO:0045944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045944", "evidence": [ { "database": "UniProtKB", "id": "P12755", "url": "https://www.uniprot.org/uniprot/P12755" } ], "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": "P12755", "url": "https://www.uniprot.org/uniprot/P12755" } ], "pmid": "" }, { "name": "embryonic limb morphogenesis", "id": "GO:0030326", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030326", "evidence": [ { "database": "UniProtKB", "id": "P12755", "url": "https://www.uniprot.org/uniprot/P12755" } ], "pmid": "" }, { "name": "skeletal muscle fiber development", "id": "GO:0048741", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048741", "evidence": [ { "database": "UniProtKB", "id": "P12755", "url": "https://www.uniprot.org/uniprot/P12755" } ], "pmid": "" }, { "name": "retina development in camera-type eye", "id": "GO:0060041", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060041", "evidence": [ { "database": "UniProtKB", "id": "P12755", "url": "https://www.uniprot.org/uniprot/P12755" } ], "pmid": "" }, { "name": "neural tube closure", "id": "GO:0001843", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001843", "evidence": [ { "database": "UniProtKB", "id": "P12755", "url": "https://www.uniprot.org/uniprot/P12755" } ], "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": "P12755", "url": "https://www.uniprot.org/uniprot/P12755" } ], "pmid": "" }, { "name": "negative regulation of fibroblast proliferation", "id": "GO:0048147", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048147", "evidence": [ { "database": "UniProtKB", "id": "P12755", "url": "https://www.uniprot.org/uniprot/P12755" } ], "pmid": "" }, { "name": "SMAD protein signal transduction", "id": "GO:0060395", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060395", "evidence": [ { "database": "UniProtKB", "id": "P12755", "url": "https://www.uniprot.org/uniprot/P12755" } ], "pmid": "" }, { "name": "roof of mouth development", "id": "GO:0060021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060021", "evidence": [ { "database": "UniProtKB", "id": "P12755", "url": "https://www.uniprot.org/uniprot/P12755" } ], "pmid": "" }, { "name": "face morphogenesis", "id": "GO:0060325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060325", "evidence": [ { "database": "UniProtKB", "id": "P12755", "url": "https://www.uniprot.org/uniprot/P12755" } ], "pmid": "" }, { "name": "bone morphogenesis", "id": "GO:0060349", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060349", "evidence": [ { "database": "UniProtKB", "id": "P12755", "url": "https://www.uniprot.org/uniprot/P12755" } ], "pmid": "" }, { "name": "myelination in peripheral nervous system", "id": "GO:0022011", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022011", "evidence": [ { "database": "UniProtKB", "id": "P12755", "url": "https://www.uniprot.org/uniprot/P12755" } ], "pmid": "" }, { "name": "negative regulation of activin receptor signaling pathway", "id": "GO:0032926", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032926", "evidence": [ { "database": "UniProtKB", "id": "P12755", "url": "https://www.uniprot.org/uniprot/P12755" } ], "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": "P12755", "url": "https://www.uniprot.org/uniprot/P12755" } ], "pmid": "" }, { "name": "cell motility", "id": "GO:0048870", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048870", "evidence": [ { "database": "UniProtKB", "id": "P12755", "url": "https://www.uniprot.org/uniprot/P12755" } ], "pmid": "" }, { "name": "negative regulation of osteoblast differentiation", "id": "GO:0045668", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045668", "evidence": [ { "database": "UniProtKB", "id": "P12755", "url": "https://www.uniprot.org/uniprot/P12755" } ], "pmid": "" }, { "name": "camera-type eye morphogenesis", "id": "GO:0048593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048593", "evidence": [ { "database": "UniProtKB", "id": "P12755", "url": "https://www.uniprot.org/uniprot/P12755" } ], "pmid": "" }, { "name": "negative regulation of Schwann cell proliferation", "id": "GO:0010626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010626", "evidence": [ { "database": "UniProtKB", "id": "P12755", "url": "https://www.uniprot.org/uniprot/P12755" } ], "pmid": "" }, { "name": "somatic stem cell population maintenance", "id": "GO:0035019", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035019", "evidence": [ { "database": "UniProtKB", "id": "P12755", "url": "https://www.uniprot.org/uniprot/P12755" } ], "pmid": "" }, { "name": "cardiac muscle cell proliferation", "id": "GO:0060038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060038", "evidence": [ { "database": "UniProtKB", "id": "P12755", "url": "https://www.uniprot.org/uniprot/P12755" } ], "pmid": "" }, { "name": "positive regulation of DNA binding", "id": "GO:0043388", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043388", "evidence": [ { "database": "UniProtKB", "id": "P12755", "url": "https://www.uniprot.org/uniprot/P12755" } ], "pmid": "" }, { "name": "anterior/posterior axis specification", "id": "GO:0009948", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009948", "evidence": [ { "database": "UniProtKB", "id": "P12755", "url": "https://www.uniprot.org/uniprot/P12755" } ], "pmid": "" }, { "name": "myotube differentiation", "id": "GO:0014902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014902", "evidence": [ { "database": "UniProtKB", "id": "P12755", "url": "https://www.uniprot.org/uniprot/P12755" } ], "pmid": "" }, { "name": "camera-type eye development", "id": "GO:0043010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043010", "evidence": [ { "database": "UniProtKB", "id": "P12755", "url": "https://www.uniprot.org/uniprot/P12755" } ], "pmid": "" }, { "name": "lens morphogenesis in camera-type eye", "id": "GO:0002089", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002089", "evidence": [ { "database": "UniProtKB", "id": "P12755", "url": "https://www.uniprot.org/uniprot/P12755" } ], "pmid": "" }, { "name": "positive regulation of Wnt signaling pathway", "id": "GO:0030177", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030177", "evidence": [ { "database": "UniProtKB", "id": "P12755", "url": "https://www.uniprot.org/uniprot/P12755" } ], "pmid": "" }, { "name": "olfactory bulb development", "id": "GO:0021772", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021772", "evidence": [ { "database": "UniProtKB", "id": "P12755", "url": "https://www.uniprot.org/uniprot/P12755" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 11, "go_terms": [ { "name": "histone deacetylase inhibitor activity", "id": "GO:0046811", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046811", "evidence": [ { "database": "UniProtKB", "id": "P12755", "url": "https://www.uniprot.org/uniprot/P12755" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "P12755", "url": "https://www.uniprot.org/uniprot/P12755" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "P12755", "url": "https://www.uniprot.org/uniprot/P12755" } ], "pmid": "" }, { "name": "protein domain specific binding", "id": "GO:0019904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019904", "evidence": [ { "database": "UniProtKB", "id": "P12755", "url": "https://www.uniprot.org/uniprot/P12755" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P12755", "url": "https://www.uniprot.org/uniprot/P12755" } ], "pmid": "" }, { "name": "ubiquitin protein ligase binding", "id": "GO:0031625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031625", "evidence": [ { "database": "UniProtKB", "id": "P12755", "url": "https://www.uniprot.org/uniprot/P12755" } ], "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": "P12755", "url": "https://www.uniprot.org/uniprot/P12755" } ], "pmid": "" }, { "name": "SMAD binding", "id": "GO:0046332", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046332", "evidence": [ { "database": "UniProtKB", "id": "P12755", "url": "https://www.uniprot.org/uniprot/P12755" } ], "pmid": "" }, { "name": 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