{ "uniprot_canonical_ac": "O95427-1", "uniprot_ac": "O95427", "uniprot_id": "PIGN_HUMAN", "mass": { "chemical_mass": 105810.0, "monoisotopic_mass": 105810.0 }, "refseq": { "ac": "NP_036459", "name": "GPI ethanolamine phosphate transferase 1", "summary": "This gene encodes a protein that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This protein is expressed in the endoplasmic reticulum and transfers phosphoethanolamine (EtNP) to the first mannose of the GPI anchor. Two alternatively spliced variants, which encode an identical isoform, have been reported. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036459" }, "gene_names": [ { "name": "PIGN", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O95427", "id": "O95427" }, { "name": "MCAHS; MCAHS1; MCD4; MDC4; PIG-N", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036459", "id": "NP_036459" }, { "name": "MCD4", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O95427", "id": "O95427" }, { "name": "PIGN", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036459", "id": "NP_036459" } ], "protein_names": [ { "name": "GPI ethanolamine phosphate transferase 1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O95427" }, { "name": "2.-.-.-", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95427" }, { "name": "GPI ethanolamine phosphate transferase 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036459", "id": "NP_036459" }, { "name": "MCD4 homolog; phosphatidylinositol-glycan biosynthesis class N protein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036459", "id": "NP_036459" }, { "name": "MCD4 homolog", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95427" }, { "name": "PIG-N", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95427" }, { "name": "Phosphatidylinositol-glycan biosynthesis class N protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95427" } ], "function": [ { "annotation": "Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype-phenotype correlation study.", "evidence": [ { "database": "RefSeq", "id": "NP_036459", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036459" }, { "database": "PubMed", "id": "36322149", "url": "https://glygen.org/publication/PubMed/36322149" } ] }, { "annotation": "Ethanolamine phosphate transferase involved in glycosylphosphatidylinositol-anchor biosynthesis. Transfers ethanolamine phosphate to the first alpha-1,4-linked mannose of the glycosylphosphatidylinositol precursor of GPI-anchor.", "evidence": [ { "database": "UniProtKB", "id": "K7EMD7", "url": "https://www.uniprot.org/uniprot/K7EMD7#function" }, { "database": "UniProtKB", "id": "RU367138", "url": "https://www.uniprot.org/uniprot/RU367138#function" }, { "database": "UniProtKB", "id": "K7EJM6", "url": "https://www.uniprot.org/uniprot/K7EJM6#function" }, { "database": "UniProtKB", "id": "A0A1W2PS19", "url": "https://www.uniprot.org/uniprot/A0A1W2PS19#function" }, { "database": "UniProtKB", "id": "A0A1W2PPA0", "url": "https://www.uniprot.org/uniprot/A0A1W2PPA0#function" }, { "database": "UniProtKB", "id": "A0A1W2PNQ8", "url": "https://www.uniprot.org/uniprot/A0A1W2PNQ8#function" }, { "database": "UniProtKB", "id": "K7EID9", "url": "https://www.uniprot.org/uniprot/K7EID9#function" }, { "database": "UniProtKB", "id": "A0A1W2PQ49", "url": "https://www.uniprot.org/uniprot/A0A1W2PQ49#function" }, { "database": "UniProtKB", "id": "A0A1W2PPB6", "url": "https://www.uniprot.org/uniprot/A0A1W2PPB6#function" }, { "database": "UniProtKB", "id": "K7ELE1", "url": "https://www.uniprot.org/uniprot/K7ELE1#function" }, { "database": "UniProtKB", "id": "K7EQG0", "url": "https://www.uniprot.org/uniprot/K7EQG0#function" }, { "database": "UniProtKB", "id": "A0A1W2PRH3", "url": "https://www.uniprot.org/uniprot/A0A1W2PRH3#function" }, { "database": "UniProtKB", "id": "A0A1W2PPR7", "url": "https://www.uniprot.org/uniprot/A0A1W2PPR7#function" }, { "database": "UniProtKB", "id": "A0A1W2PQP4", "url": "https://www.uniprot.org/uniprot/A0A1W2PQP4#function" }, { "database": "UniProtKB", "id": "K7EPJ2", "url": "https://www.uniprot.org/uniprot/K7EPJ2#function" }, { "database": "UniProtKB", "id": "K7EL34", "url": "https://www.uniprot.org/uniprot/K7EL34#function" }, { "database": "UniProtKB", "id": "K7ERX5", "url": "https://www.uniprot.org/uniprot/K7ERX5#function" }, { "database": "UniProtKB", "id": "K7ESH9", "url": "https://www.uniprot.org/uniprot/K7ESH9#function" }, { "database": "UniProtKB", "id": "A0A1W2PQR8", "url": "https://www.uniprot.org/uniprot/A0A1W2PQR8#function" }, { "database": "UniProtKB", "id": "A0A1W2PNH8", "url": "https://www.uniprot.org/uniprot/A0A1W2PNH8#function" }, { "database": "UniProtKB", "id": "A0A1W2PQZ1", "url": "https://www.uniprot.org/uniprot/A0A1W2PQZ1#function" }, { "database": "UniProtKB", "id": "A0A1W2PQA9", "url": "https://www.uniprot.org/uniprot/A0A1W2PQA9#function" }, { "database": "UniProtKB", "id": "K7ENK2", "url": "https://www.uniprot.org/uniprot/K7ENK2#function" }, { "database": "UniProtKB", "id": "A0A1W2PR74", "url": "https://www.uniprot.org/uniprot/A0A1W2PR74#function" }, { "database": "UniProtKB", "id": "A0A1W2PNR0", "url": "https://www.uniprot.org/uniprot/A0A1W2PNR0#function" }, { "database": "UniProtKB", "id": "O95427", "url": "https://www.uniprot.org/uniprot/O95427#function" }, { "database": "PubMed", "id": "23446422", "url": "https://glygen.org/publication/PubMed/23446422" }, { "database": "UniProtKB", "id": "A0A1W2PPK6", "url": "https://www.uniprot.org/uniprot/A0A1W2PPK6#function" }, { "database": "UniProtKB", "id": "A0A1W2PNW5", "url": "https://www.uniprot.org/uniprot/A0A1W2PNW5#function" } ] }, { "annotation": "Novel insights into the clinico-radiological spectrum of phenotypes associated to PIGN mutations.", "evidence": [ { "database": "RefSeq", "id": "NP_036459", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036459" }, { "database": "PubMed", "id": "34051595", "url": "https://glygen.org/publication/PubMed/34051595" } ] }, { "annotation": "PIGN spatiotemporally regulates the spindle assembly checkpoint proteins in leukemia transformation and progression. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_036459", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036459" }, { "database": "PubMed", "id": "34561473", "url": "https://glygen.org/publication/PubMed/34561473" } ] }, { "annotation": "PIGN-Related Disease in Two Lithuanian Families: A Report of Two Novel Pathogenic Variants, Molecular and Clinical Characterisation. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_036459", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036459" }, { "database": "PubMed", "id": "36363484", "url": "https://glygen.org/publication/PubMed/36363484" } ] }, { "annotation": "This gene encodes a protein that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This protein is expressed in the endoplasmic reticulum and transfers phosphoethanolamine (EtNP) to the first mannose of the GPI anchor. Two alternatively spliced variants, which encode an identical isoform, have been reported. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_036459", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036459" } ] } ], "disease": [ { "disease_id": "DOID:0080138", "recommended_name": { "id": "DOID:0080138", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080138", "name": "multiple congenital anomalies-hypotonia-seizures syndrome 1", "description": "A multiple congenital anomalies-hypotonia-seizures syndrome that is characterized by neonatal hypotonia, lack of psychomotor development, seizures, dysmorphic features, and variable congenital anomalies involving the cardiac, urinary, and gastrointestinal systems and has_material_basis_in homozygous mutation in the PIGN gene on chromosome 18q21." }, "synonyms": [ { "id": "MONDO:0013563", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013563", "name": "multiple congenital anomalies-hypotonia-seizures syndrome 1", "description": "Any multiple congenital anomalies/dysmorphic syndrome-intellectual disability in which the cause of the disease is a mutation in the PIGN gene." }, { "id": "MONDO:0013563", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013563", "name": "PIGN multiple congenital anomalies/dysmorphic syndrome-intellectual disability", "description": "" }, { "id": "MONDO:0013563", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013563", "name": "PIGN-CDG", "description": "" }, { "id": "MONDO:0013563", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013563", "name": "congenital disorder of glycosylation due to PIGN deficiency", "description": "" }, { "id": "MONDO:0013563", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013563", "name": "inherited GPI anchor-deficiency", "description": "" }, { "id": "MONDO:0013563", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013563", "name": "multiple congenital anomalies-hypotonia-seizures syndrome 1", "description": "" }, { "id": "MONDO:0013563", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013563", "name": "multiple congenital anomalies-hypotonia-seizures syndrome type 1", "description": "" }, { "id": "MONDO:0013563", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013563", "name": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability caused by mutation in PIGN", "description": "" }, { "id": "MONDO:0013563", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013563", "name": "PIGN-related inherited GPI deficiency", "description": "" }, { "id": "MONDO:0013563", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013563", "name": "MCAHS1", "description": "" }, { "id": "MONDO:0013563", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013563", "name": "glycosylphosphatidylinositol 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gene." }, { "id": "MONDO:0013563", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013563", "name": "PIGN multiple congenital anomalies/dysmorphic syndrome-intellectual disability", "description": "" }, { "id": "MONDO:0013563", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013563", "name": "PIGN-CDG", "description": "" }, { "id": "MONDO:0013563", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013563", "name": "congenital disorder of glycosylation due to PIGN deficiency", "description": "" }, { "id": "MONDO:0013563", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013563", "name": "inherited GPI anchor-deficiency", "description": "" }, { "id": "MONDO:0013563", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013563", "name": "multiple congenital anomalies-hypotonia-seizures syndrome 1", "description": "" }, { "id": "MONDO:0013563", "resource": "MONDO", 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"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DIS->NIS).", "chr_id": "18", "chr_pos": "62105556", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D616", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1328150234", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1328150234" }, { "id": "rs1328150234", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1328150234#frequency_tab" }, { "id": "rs1328150234", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1328150234" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 67, "end_pos": 67, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NGN->NGS).", "chr_id": "18", "chr_pos": "62161154", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N67", "disease": [ { "disease_id": 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"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 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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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"name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", 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"DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant 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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": "Yes", "trend": "down", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O95427", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95427" } ], "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. 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95427" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "O95427", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95427" } ], "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": "O95427", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95427" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "O95427", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95427" } ], "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": "No", "trend": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "O95427", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95427" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "O95427", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95427" } ], "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "O95427", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95427" } ], "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": 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"categories": [ "Organism-specific" ] }, { "id": "PR_O95427", "url": "http://purl.obolibrary.org/obo/PR_O95427", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-162710", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-162710", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_036459", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036459", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A0A1W2PNH8", "url": "https://www.uniprot.org/uniprot/A0A1W2PNH8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1W2PNH8-1", "url": "https://www.uniprot.org/uniprot/A0A1W2PNH8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1W2PNQ8", "url": "https://www.uniprot.org/uniprot/A0A1W2PNQ8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1W2PNQ8-1", "url": "https://www.uniprot.org/uniprot/A0A1W2PNQ8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1W2PNR0", "url": "https://www.uniprot.org/uniprot/A0A1W2PNR0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1W2PNR0-1", "url": "https://www.uniprot.org/uniprot/A0A1W2PNR0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1W2PNW5", "url": "https://www.uniprot.org/uniprot/A0A1W2PNW5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1W2PNW5-1", "url": "https://www.uniprot.org/uniprot/A0A1W2PNW5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1W2PPA0", "url": "https://www.uniprot.org/uniprot/A0A1W2PPA0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1W2PPA0-1", "url": "https://www.uniprot.org/uniprot/A0A1W2PPA0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1W2PPB6", "url": "https://www.uniprot.org/uniprot/A0A1W2PPB6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1W2PPB6-1", "url": "https://www.uniprot.org/uniprot/A0A1W2PPB6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1W2PPK6", "url": "https://www.uniprot.org/uniprot/A0A1W2PPK6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1W2PPK6-1", "url": "https://www.uniprot.org/uniprot/A0A1W2PPK6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1W2PPR7", "url": "https://www.uniprot.org/uniprot/A0A1W2PPR7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1W2PPR7-1", "url": "https://www.uniprot.org/uniprot/A0A1W2PPR7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1W2PQ49", "url": "https://www.uniprot.org/uniprot/A0A1W2PQ49", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1W2PQ49-1", "url": "https://www.uniprot.org/uniprot/A0A1W2PQ49-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1W2PQA9", "url": "https://www.uniprot.org/uniprot/A0A1W2PQA9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1W2PQA9-1", "url": "https://www.uniprot.org/uniprot/A0A1W2PQA9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1W2PQP4", "url": "https://www.uniprot.org/uniprot/A0A1W2PQP4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1W2PQP4-1", "url": "https://www.uniprot.org/uniprot/A0A1W2PQP4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1W2PQR8", "url": "https://www.uniprot.org/uniprot/A0A1W2PQR8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1W2PQR8-1", "url": "https://www.uniprot.org/uniprot/A0A1W2PQR8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1W2PQZ1", "url": "https://www.uniprot.org/uniprot/A0A1W2PQZ1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1W2PQZ1-1", "url": "https://www.uniprot.org/uniprot/A0A1W2PQZ1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1W2PR74", "url": "https://www.uniprot.org/uniprot/A0A1W2PR74", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1W2PR74-1", "url": "https://www.uniprot.org/uniprot/A0A1W2PR74-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1W2PRH3", "url": "https://www.uniprot.org/uniprot/A0A1W2PRH3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1W2PRH3-1", "url": "https://www.uniprot.org/uniprot/A0A1W2PRH3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1W2PS19", "url": "https://www.uniprot.org/uniprot/A0A1W2PS19", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1W2PS19-1", "url": "https://www.uniprot.org/uniprot/A0A1W2PS19-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7EID9", "url": "https://www.uniprot.org/uniprot/K7EID9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7EID9-1", "url": "https://www.uniprot.org/uniprot/K7EID9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7EJM6", "url": "https://www.uniprot.org/uniprot/K7EJM6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7EJM6-1", "url": "https://www.uniprot.org/uniprot/K7EJM6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7EL34", "url": "https://www.uniprot.org/uniprot/K7EL34", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7EL34-1", "url": "https://www.uniprot.org/uniprot/K7EL34-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7ELE1", "url": "https://www.uniprot.org/uniprot/K7ELE1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7ELE1-1", "url": "https://www.uniprot.org/uniprot/K7ELE1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7EMD7", "url": "https://www.uniprot.org/uniprot/K7EMD7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7EMD7-1", "url": "https://www.uniprot.org/uniprot/K7EMD7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7ENK2", "url": "https://www.uniprot.org/uniprot/K7ENK2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7ENK2-1", "url": "https://www.uniprot.org/uniprot/K7ENK2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7EPJ2", "url": "https://www.uniprot.org/uniprot/K7EPJ2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7EPJ2-1", "url": "https://www.uniprot.org/uniprot/K7EPJ2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7EQG0", "url": "https://www.uniprot.org/uniprot/K7EQG0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7EQG0-1", "url": "https://www.uniprot.org/uniprot/K7EQG0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7ERX5", "url": "https://www.uniprot.org/uniprot/K7ERX5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7ERX5-1", "url": "https://www.uniprot.org/uniprot/K7ERX5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7ESH9", "url": "https://www.uniprot.org/uniprot/K7ESH9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7ESH9-1", "url": "https://www.uniprot.org/uniprot/K7ESH9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95427", "url": "https://www.uniprot.org/uniprot/O95427", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95427-1", "url": "https://www.uniprot.org/uniprot/O95427-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MLLFFTLGLLIHFVFFASIFDIYFTSPLVHGMTPQFTPLPPPARRLVLFVADGLRADALYELDENGNSRAPFIRNIIMHEGSWGISHTRVPTESRPGHVALIAGFYEDVSAVAKGWKENPVEFDSLFNESKYTWSWGSPDILPMFAKGASGDHVYTYSYDAKREDFGAQDATKLDTWVFDNVKDFFHHARNNQSLFSKINEEKIVFFLHLLGIDTNGHAHRPSSRDYKHNIKKVDDGVKEIVSMFNHFYGNDGKTTFIFTSDHGMTDWGSHGAGHPSETLTPLVTWGAGIKYPQRVSAQQFDDAFLKEWRLENWKRLDVNQADIAPLMTSLIGVPFPLNSVGILPVDYLNNTDLFKAESMFTNAVQILEQFKVKMTQKKEVTLPFLFTPFKLLSDSKQFNILRKARSYIKHRKFDEVVSLCKELIHLALKGLSYYHTYDRFFLGVNVVIGFVGWISYASLLIIKSHSNLIKGVSKEVKKPSHLLPCSFVAIGILVAFFLLIQACPWTYYVYGLLPLPIWYAVLREFQVIQDLVVSVLTYPLSHFVGYLLAFTLGIEVLVLSFFYRYMLTAGLTAFAAWPFLTRLWTRAKMTSLSWTFFSLLLAVFPLMPVVGRKPDISLVMGAGLLVLLLSLCVVTSLMKRKDSFIKEELLVHLLQVLSTVLSMYVVYSTQSSLLRKQGLPLMNQIISWATLASSLVVPLLSSPVLFQRLFSILLSLMSTYLLLSTGYEALFPLVLSCLMFVWINIEQETLQQSGVCCKQKLTSIQFSYNTDITQFRQLYLDDIRRAFFLVFFLVTAFFGTGNIASINSFDLASVYCFLTVFSPFMMGALMMWKILIPFVLVMCAFEAVQLTTQLSSKSLFLIVLVISDIMALHFFFLVKDYGSWLDIGTSISHYVIVMSMTIFLVFLNGLAQLLTTKKLRLCGKPKSHFM", "length": 931, "header": "sp|O95427-1|PIGN_HUMAN Isoform 1 of GPI ethanolamine phosphate transferase 1 OS=Homo sapiens OX=9606 GN=PIGN PE=1 SV=1 CANONICAL=O95427-1" }, "isoforms": [ { "isoform_ac": "A0A1W2PNH8-1", "url": "", "sequence": { "sequence": "MLLFFTLGLLIHFVFFASIFDIYFTSPLVHGMTPQFTPLPPPARRLVLFVADGLRADALYELDENGNSRAPFIRNIIMHEGSWGISHTRVPTESRPGHVALIAGFYEDVSAVAKGWKENPVEFDSLFNESKYTWSWGSPDILPMFAKGASGDHVYTYSYDAKREDFGAQDATKLDTWVFDNVKDFFHHARNNQSLFSKINEEKIVFFLHLLGIDTNGHAHRPSSRDYKHNIKKVDDGVKEIVSMFNHFYGNDGKTTFIFTSDHGMTDWGSHGAGHPSETLTPLVTWGAGIKYPQRVSAQQFDDAFLKEWRLENWKRLDVNQGILPVDYLNNTDLFKAESMFTNAVQILEQFKVKMTQKKEVTLPFLFTPFKLLSDSKQFNILRKARSYIKHRKFDEVVSLCKELIHLALKGLSYYHTYDRFFLGVNVVIGFVGWISYASLLIIKSHSNLIKGVSKEVKKPSHLLPCSFVAIGILVAFFLLIQACPWTYYVYGLLPLPIWYAVLREFQVIQDLVVSVLTYPLSHFVGYLLAFTLGIEVLVLSFFYRYMLTAGLTAFAAWPFLTRLWTRAKMTSLSWTFFSLLLAVFPLMPVVGRKPDISLVMGAGLLVLLLSLCVVTSLMKRKDSFIKEELLVHLLQVLSTVLSMYVVYSTQSSLLRKQGLPLMNQIISWATLASSLVVPLLSSPVLFQRLFSILLSLMSTYLLLSTGYEALFPLVLSCLMFVWINIEQETLQQSGVCCKQKLTSIQFSYNTDITQFRQLYLDDIRRAFFLVFFLVTAFFGTGNIASINSFDLASVYCFLTVFSPFMMGALMMWKILIPFVLVMCAFEAVQLTTQLSSKSLFLIVLVISDIMALHFFFLVKDYGSWLDIGTSISHYVIVMSMTIFLVFLNGLAQLLTTKKLRLCGKPKSHFM", "length": 911, "header": "tr|A0A1W2PNH8-1|PIGN_HUMAN Computationally mapped isoform of GPI ethanolamine phosphate transferase 1 OS=Homo sapiens OX=9606 GN=PIGN PE=1 SV=1 CANONICAL=O95427-1" }, "locus": { "chromosome": "18", "start_pos": 62161353, "end_pos": 62045859, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000638977.1", "url": "https://www.ensembl.org/id/ENST00000638977.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000491010.1", "url": "https://www.ensembl.org/id/ENSP00000491010.1" } ] } }, { "isoform_ac": "A0A1W2PNQ8-1", "url": "", "sequence": { "sequence": "MLLFFTLGLLIHFVFFASIFDIYFTSPLVHGMTPQFTPLPPPARRLVLFVADGLRADALYELDENGNSRAPFIRNIIMHEGSWGISHTRVPTESRPGHVALIAGFYEDVSAVAKGWKENPVEFDSLFNESKYTWSWGSPDILPMFAKGIDTNGHAHRPSSRDYKHNIKKVDDGVKEIVSMFNHFYGNDGKTTFIFTSDHGMTDWGSHGAGHPSETLTPLVTWGAGIKYPQRVSAQQFDDAFLKEWRLENWKRLDVNQGILPVDYLNNTDLFKAESMFTNAVQILEQFKVKMTQKKEVTLPFLFTPFKLLSDSKQFNILRKARSYIKHRKFDEVVSLCKELIHLALKGLSYYHTYDRFFLGVNVVIGFVGWISYASLLIIKSHSNLIKGVSKEVKKPSHLLPCSFVAIGILVAFFLLIQACPWTYYVYGLLPLPIWYAVLREFQVIQDLVVSVLTYPLSHFVGYLLAFTLGIEVLVLSFFYRYMLTAGLTAFAAWPFLTRLWTRAKMTSLSWTFFSLLLAVFPLMPVVGRKPDISLVMGAGLLVLLLSLCVVTSLMKRKDSFIKEELLVHLLQVLSTVLSMYVVYSTQSSLLRKQGLPLMNQIISWATLASSLVVPLLSSPVLFQRLFSILLSLMSTYLLLSTGYEALFPLVLSCLMFVWINIEQETLQQSGVCCKQKLTSIQFSYNTDITQFRQLYLDDIRRAFFLVFFLVTAFFGTGNIASINSFDLASVYCFLTVFSPFMMGALMMWKILIPFVLVMCAFEAVQLTTQLSSKSLFLIVLVISDIMALHFFFLVKDYGSWLDIGTSISHYVIVMSMTIFLVFLNGLAQLLTTKKLRLCGKPKSHFM", "length": 847, "header": "tr|A0A1W2PNQ8-1|PIGN_HUMAN Computationally mapped isoform of GPI ethanolamine phosphate transferase 1 OS=Homo sapiens OX=9606 GN=PIGN PE=1 SV=1 CANONICAL=O95427-1" }, "locus": { "chromosome": "18", "start_pos": 62161353, "end_pos": 62045859, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000639342.1", "url": "https://www.ensembl.org/id/ENST00000639342.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000491022.1", "url": "https://www.ensembl.org/id/ENSP00000491022.1" } ] } }, { "isoform_ac": "A0A1W2PNR0-1", "url": "", "sequence": { "sequence": "MLLFFTLGLLIHFVFFASIFDIYFTSPLVHGMTPQFTPLPPPARRLVLFVADGLRADALYELDENGNSRAPFIRNIIMHEGSWGISHTRVPTESRPGHVALIAGFYEDVSAVAKGWKENPVEFDSLFNESKYTWSWGSPDILPMFAKGASGDHVYTYSYDAKREDFGAQDATKLDTWVFDNVKDFFHHARNNQSLFSKINEEKIVFFLHLLGIDTNGHAHRPSSRDYKHNIKKVDDGVKEIVSMFNHFYGNDGKTTFIFTSDHGMTDWGSHGAGHPSETLTPLVTWGAGIKYPQRVSAQQFDDAFLKEWRLENWKRLDVNQADIAPLMTSLIGVPFPLNSVGILPVDYLNNTDLFKAESMFTNAVQILEQFKVKMTQKKEVTLPFLFTPFKLLSDSKQFNILRKARSYIKHRKFDEVVSLCKELIHLALKGLSYYHTYDRFFLGVNVVIGFVGWISYASLLIIKSHSNLIKGVSKEVKKPSHLLPCSFVAIGILVAFFLLIQACPWTYYVYGLLPLPIWYAVLREFQVIQDLVVSVLTYPLSHFVGYLLAFTLGIEVLVLSFFYRYMLTAGLTAFAAWPFLTRLWTRAKMTSLSWTFFSLLLAVFPLMPVVGRKPDISLVMGAGLLVLLLSLCVVTSLMKRKDSFIKEELLVHLLQVLSTVLSMYVVYSTQSSLLRKQGLPLMNQIISWATLASSLVVPLLSSPVLFQRLFSILLSLMSTYLLLSTGYEALFPLVLSCLMFVWINIEQETLQQSGVCCKQKLTSIQFSYNTDITQFRQLYLDDIRRAFFLVFFLVTAFFGTGNIASINSFDLASVYCFLTVFSPFMMGALMMWKILIPFVLVMCAFEAVQLTTQLSSKSLFLIVLVISDIMALHFFFLVKDYGSWLDIGTRKLPSEK", "length": 897, "header": "tr|A0A1W2PNR0-1|PIGN_HUMAN Computationally mapped isoform of GPI ethanolamine phosphate transferase 1 OS=Homo sapiens OX=9606 GN=PIGN PE=1 SV=1 CANONICAL=O95427-1" }, "locus": { "chromosome": "18", "start_pos": 62161353, "end_pos": 62052939, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000638183.1", "url": "https://www.ensembl.org/id/ENST00000638183.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000491013.1", "url": "https://www.ensembl.org/id/ENSP00000491013.1" } ] } }, { "isoform_ac": "A0A1W2PNW5-1", "url": "", "sequence": { "sequence": "MLLFFTLGLLIHFVFFASIFDIYFTSPLVHGMTPQFTPLPPPARRLVLFVADGLRADALYELDENGNSRAPFIRNIIMHEGSWGISHTRVPTESRPGHVALIAGFYEDVSAVAKGWKENPVEFDSLFNESKYTWSWGSPDILPMFAKGASGDHVYTYSYDAKREDFGAQDATKLDTWVFDNVKDFFHHARNNQSLFSKINEEKIVFFLHLLGIDTNGHAHRPSSRDYKHNIKKVDDGVKEIVSMFNHFYGNDGKTTFIFTSDHGMTDWGSHGAGHPSETLTPLVTWGAGIKYPQRVSAQQFDDAFLKEWRLENWKRLDVNQADIAPLMTSLIGVPFPLNSVGILPVDYLNNTDLFKAESMFTNAVQILEQFKVKMTQKKEVTLPFLFTPFKLLSDSKQFNILRKARSYIKHRKFDEVVSLCKELIHLALKGLSYYHTYDRFFLGVNVVIGFVGWISYASLLIIKSHSNLIKGVSKEVKKPSHLLPCSFVAIGILVAFFLLIQACPWTYYVYGLLPLPIWYAVLREFQVIQDLVVSVLTYPLSHFVGYLLAFTLGIEVLVLSFFYRYMLTAGLTAFAAWPFLTRLWTRAKMTSLSWTFFSLLLAVFPLMPVVGRKPDISLVC", "length": 621, "header": "tr|A0A1W2PNW5-1|A0A1W2PNW5_HUMAN Computationally mapped isoform of GPI ethanolamine phosphate transferase 1 OS=Homo sapiens OX=9606 GN=PIGN PE=1 SV=1 CANONICAL=O95427-1" }, "locus": { "chromosome": "18", "start_pos": 62161353, "end_pos": 62103596, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000640268.1", "url": "https://www.ensembl.org/id/ENST00000640268.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000491111.1", "url": "https://www.ensembl.org/id/ENSP00000491111.1" } ] } }, { "isoform_ac": "A0A1W2PPA0-1", "url": "", "sequence": { "sequence": "SKQFNILRKARSYIKHRKFDEVVSLCKELIHLALKGLSYYHTYDRFFLGVNVVIGFVGWISYASLLIIKSHSNLIKGVSKEVKKPSHLLPCSFVAIGILVAFFLLIQACPWTYYVYGLLPLPIWYAVLREFQVIQDLVVSVLTYPLSHFVGYLLAFTLGIEVLVLSFFYRYMLTAGLTAFAAWPFLTRLWTRAKMTSLSWTFFSLLLAVFPLMPVVGRKPDISLVMGAGLLVLLLSLCVVTSLMKRKDSFIKEELLVHLLQVLSTVLSMYVVYSTQSSLLRKQGLPLMNQIISWATLASSLVVPLLSSPVLFQRLFSILLSLMSTYLLLSTGYEALFPLVLSCLMFVWINIEQETLQQSGVCCKQKLTSIQFSYNTDITQFRQLYLDDIRRAFFLVFFLVTAFFGTGNIASINSFDLASVYCFLTVFSPFMMGALMMWKILIPFVLVMCAFEAVQLTTQLSSKSLFLIVLVISDIMALHFFFLVKDYGSWLDIGTRDRVSLCCPGWSQIPKLKRSSCLGLPKSWG", "length": 525, "header": "tr|A0A1W2PPA0-1|PIGN_HUMAN Computationally mapped isoform of GPI ethanolamine phosphate transferase 1 OS=Homo sapiens OX=9606 GN=PIGN PE=1 SV=1 CANONICAL=O95427-1" }, "locus": { "chromosome": "18", "start_pos": 62114626, "end_pos": 62058933, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000640682.1", "url": "https://www.ensembl.org/id/ENST00000640682.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000491415.1", "url": "https://www.ensembl.org/id/ENSP00000491415.1" } ] } }, { "isoform_ac": "A0A1W2PPB6-1", "url": "", "sequence": { "sequence": "MLLFFTLGLLIHFVFFASIFDIYFTSPLVHGMTPQFTPLPPPARRLVLFVADGLRADALYELDENGNSRAPFIRNIIMHEGSWGISHTRVPTESRPGHVALIAGFYEDVSAVAKGWKENPVEFDSLFNESKYTWSWGSPDILPMFAKGASGDHVYTYSYDAKREDFGAQDATKLDTWVFDNVKDFFHHARNNQSLFSKINEEKIVFFLHLLGIDTNGHAHRPSSRDYKHNIKKVDDGVKEIVSMFNHFYGNDGKTTFIFTSDHGMTDWGSHGAGHPSETLTPLVTWGAGIKYPQRVSAQQFDDAFLKEWRLENWKRLDVNQADIAPLMTSLIGVPFPLNSVGILPVDYLNNTDLFKAESMFTNAVQILEQFKVKMTQKKEVTLPFLFTPFKLLSDSKQFNILRKARSYIKHRKFDEVVSLCKELIHLALKGLSYYHTYDRFFLGVNVVIGFVGWISYASLLIIKSHSNLIKGVSKEVKKPSHLLPCSFVAIGILVAFFLLIQACPWTYYVYGLLPLPIWYAVLREFQVIQDLVVSVLTYPLSHFVGYLLAFTLGIEVLVLSFFYRYMLTAGLTAFAAWPFLTRLWTRAKMTSLSWTFFSLLLAVFPLMPVVGRKPDISLVMGAGLLVLLLSLCVVTSLMKRKDSFIKEELLVHLLQVLSTVLSMYVVYSTQSSLLRKQGLPLMNQIISWATLASSLVVPLLSSPVLFQRLFSILLSLMSTYLLLSTGSPVSSSLIILI", "length": 738, "header": "tr|A0A1W2PPB6-1|PIGN_HUMAN Computationally mapped isoform of GPI ethanolamine phosphate transferase 1 OS=Homo sapiens OX=9606 GN=PIGN PE=1 SV=1 CANONICAL=O95427-1" }, "locus": { "chromosome": "18", "start_pos": 62161353, "end_pos": 62088809, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000638904.1", "url": "https://www.ensembl.org/id/ENST00000638904.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000491318.1", "url": "https://www.ensembl.org/id/ENSP00000491318.1" } ] } }, { "isoform_ac": "A0A1W2PPK6-1", "url": "", "sequence": { "sequence": "XEELLVHLLQVLSTVLSMYVVYSTQSSLLRKQGLPLMNQIISWATLASSLVVPLLSSPVLFQRLFSILLSLMSTYLLLSTGYEALFPLVLSCLMFVWINIEQETLQQSGVCCKQKLTSIQFSYNTDITQFRQLYLDDIRRAFFLVFFLVTAFFGTGNIASINSFDLASVYCFLTVFSPFMMGALMMWKHFFFLVKDYGSWLDIGTSISHYVIVMSMTIFLVFLNGLAQLLTTKKLRLCGKPKSHFM", "length": 246, "header": "tr|A0A1W2PPK6-1|PIGN_HUMAN Computationally mapped isoform of GPI ethanolamine phosphate transferase 1 OS=Homo sapiens OX=9606 GN=PIGN PE=1 SV=1 CANONICAL=O95427-1" }, "locus": { "chromosome": "18", "start_pos": 62102821, "end_pos": 62045857, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000639372.1", "url": "https://www.ensembl.org/id/ENST00000639372.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000491459.1", "url": "https://www.ensembl.org/id/ENSP00000491459.1" } ] } }, { "isoform_ac": "A0A1W2PPR7-1", "url": "", "sequence": { "sequence": "MLLFFTLGLLIHFVFFASIFDIYFTSPLVHGMTPQFTPLPPPARRLVLFVADGLRADALYELDENGNSRAPFIRNIIMHEGSWGISHTRVPTESRPGHVALIAGFYEDVSAVAKGWKENPVEFDSLFNESKYTWSWGSPDILPMFAKGASGDHVYTYSYDAKREDFGAQDATKLDTWVFDNVKDFFHHARNNQSLFSKINEEKIVFFLHLLGIDTNGHAHRPSSRDYKHNIKKVDDGVKEIVSMFNHFYGNDGKTTFIFTSDHGMTDWGSHGAGHPSETLTPLVTWGAGIKYPQRVSAQQFDDAFLKEWRLENWKRLDVNQADIAPLMTSLIGVPFPLNSVGILPVDYLNNTDLFKAESMFTNAVQILEQFKVKMTQKKEVTLPFLFTPFKFQVIQDLVVSVLTYPLSHFVGYLLAFTLGIEVLVLSFFYRYMLTAGLTAFAAWPFLTRLWTRAKMTSLSWTFFSLLLAVFPLMPVVGRKPDISLVMGAGLLVLLLSLCVVTSLMKRKDSFIKEELLVHLLQVLSTVLSMYVVYSTQSSLLRKQGLPLMNQIISWATLASSLVVPLLSSPVLFQRLFSILLSLMSTYLLLSTGYEALFPLVLSCLMFVWINIEQETLQQSGVCCKQKLTSIQFSYNTDITQFRQLYLDDIRRAFFLVFFLVTAFFGTGNIASINSFDLASVYCFLTVFSPFMMGALMMWKILIPFVLVMCAFEAVQLTTQLSSKSLFLIVLVISDIMALHFFFLVKDYGSWLDIGTSISHYVIVMSMTIFLVFLNGLAQLLTTKKLRLCGKPKSHFM", "length": 797, "header": "tr|A0A1W2PPR7-1|PIGN_HUMAN Computationally mapped isoform of GPI ethanolamine phosphate transferase 1 OS=Homo sapiens OX=9606 GN=PIGN PE=1 SV=1 CANONICAL=O95427-1" }, "locus": { "chromosome": "18", "start_pos": 62161353, "end_pos": 62045859, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000638167.1", "url": "https://www.ensembl.org/id/ENST00000638167.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000491549.1", "url": "https://www.ensembl.org/id/ENSP00000491549.1" } ] } }, { "isoform_ac": "A0A1W2PQ49-1", "url": "", "sequence": { "sequence": "MLLFFTLGLLIHFVFFASIFDIYFTSPLVHGMTPQFTPLPPPARRLVLFVADGLRADALYELDENGNSRAPFIRNIIMHEGSWGISHTRVPTESRPGHVALIAGFYEDVSAVAKGWKENPVEFDSLFNESKYTWSWGSPDILPMFAKGASGDHVYTYSYDAKREDFGAQDATKLDTWVFDNVKE", "length": 184, "header": "tr|A0A1W2PQ49-1|A0A1W2PQ49_HUMAN Computationally mapped isoform of GPI ethanolamine phosphate transferase 1 OS=Homo sapiens OX=9606 GN=PIGN PE=1 SV=1 CANONICAL=O95427-1" }, "locus": { "chromosome": "18", "start_pos": 62161353, "end_pos": 62148251, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000639681.1", "url": "https://www.ensembl.org/id/ENST00000639681.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000491929.1", "url": "https://www.ensembl.org/id/ENSP00000491929.1" } ] } }, { "isoform_ac": "A0A1W2PQA9-1", "url": "", "sequence": { "sequence": "MLLFFTLGLLIHFVFFASIFDIYFTSPLVHGMTPQFTPLPPPARRLVLFVADGLRADALYELDENGNSRAPFIRNIIMHEGSWGISHTRVPTESRPGHVALIAGFYEDVSAVAKGWKENPVEFDSLFNESKYTWSWGSPDILPMFAKGASGDHVYTYSYDAKREDFGAQDATKLDTWVFDNVKDFFHHARNNQSLFSKINEEKIVFFLHLLGIDTNGHAHRPSSRDYKHNIKKVDDGVKEIVSMFNHFYGNDGKTTFIFTSDHGMTDWGSHGAGHPSETLTPLVTWGAGIKYPQRVSAQQFDDAFLKEWRLENWKRLDVNQADIAPLMTSLIGVPFPLNSVGILPVDYLNNTDLFKAESMFTNAVQILEQFKVKMTQKKEVTLPFLFTPFKLLSDSKQFNILRKARSYIKHRKFDEVVSLCKELIHLALKGLSYYHTYDRFFLGVNVVIGFVGWISYASLLIIKSHSNLIKGVSKEVKKPSHLLPCSFVAIGILVAFFLLIQACPWTYYVYGLLPLPIWYAVLREFQVIQDLVVSVLTYPLSHFVGYLLAFTLGIEVLVLSFFYRYMLTAGLTAFAAWPFLTRLWTRAKMTSLSWTFFSLLLAVFPLMPVVGRKPDISLVMGAGLLVLLLSLCVVTSLMKRKDSFIKEELLVHLLQVLSTVLSMYVVYSTQSSLLRKQGLPLMNQIISWATLASSLVVPLLSSPVLFQRLFSILLSLMSTYLLLSTGYEALFPLVLSCLMFVWINIEQETLQQSGVCCKQKLTSIQFSYNTDITQFRQLYLDDIRRAFFLVFFLVTAFFGTGNIASINSFDLASVYCFLTVFSPFMMGALMMWKILIPFVLVMCAFEAVQLTTQLSSKSLFLIVLVISDIMALHFFFLVKDYGSWLDIGTRQLLACTAWLFMYISASPNRLWMLSDPGLDLNLLHAIRACISHYVIVMSMTIFLVFLNGLAQLLTTKKLRLCGKPKSHFM", "length": 970, "header": "tr|A0A1W2PQA9-1|PIGN_HUMAN Computationally mapped isoform of GPI ethanolamine phosphate transferase 1 OS=Homo sapiens OX=9606 GN=PIGN PE=1 SV=1 CANONICAL=O95427-1" }, "locus": { "chromosome": "18", "start_pos": 62161353, "end_pos": 62045859, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000639902.1", "url": "https://www.ensembl.org/id/ENST00000639902.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000490965.1", "url": "https://www.ensembl.org/id/ENSP00000490965.1" } ] } }, { "isoform_ac": "A0A1W2PQP4-1", "url": "", "sequence": { "sequence": "MLLFFTLGLLIHFVFFASIFDIYFTSPLVHGMTPQFTPLPPPARRLVLFVADGLRADALYELDENGNSRAPFIRNIIMHEGSWGISHTRVPTESRPGHVALIAGFYEDVSAVAKGWKENPVEFDSLFNESKYTWSWGSPDILPMFAKGASGDHVYTYSYDAKREDFGAQDATKLDTWVFDNVKDFFHHARNNQSLFSKINEEKIVFFLHLLGIDTNGHAHRPSSRDYKHNIKKVDDGVKEIVSMFNHFYGNDGKTTFIFTSDHGMTDWGSHGAGHPSETLTPLVTWGAGIKYPQRVSAQQFDDAFLKEWRLENWKRLDVNQADIAPLMTSLIGVPFPLNSVGILPVDYLNNTDLFKAESMFTNAVQILEQFKVKMTQKKEVTLPFLFTPFKLLSDSKQFNILRKARSYIKHRKFDEVKPSHLLPCSFVAIGILVAFFLLIQACPWTYYVYGLLPLPIWYAVLREFQVIQDLVVSVLTYPLSHFVGYLLAFTLGIEVLVLSFFYRYMLTAGLTAFAAWPFLTRLWTRAKMTSLSWTFFSLLLAVFPLMPVVGRKPDISLVMGAGLLVLLLSLCVVTSLMKRKDSFIKEELLVHLLQVLSTVLSMYVVYSTQSSLLRKQGLPLMNQIISWATLASSLVVPLLSSPVLFQRLFSILLSLMSTYLLLSTGYEALFPLVLSCLMFVWINIEQETLQQSGVCCKQKLTSIQFSYNTDITQFRQLYLDDIRRAFFLVFFLVTAFFGTGNIASINSFDLASVYCFLTVFSPFMMGALMMWKILIPFVLVMCAFEAVQLTTQLSSKSLFLIVLVISDIMALHFFFLVKDYGSWLDIGTSISHYVIVMSMTIFLVFLNGLAQLLTTKKLRLCGKPKSHFM", "length": 870, "header": "tr|A0A1W2PQP4-1|PIGN_HUMAN Computationally mapped isoform of GPI ethanolamine phosphate transferase 1 OS=Homo sapiens OX=9606 GN=PIGN PE=1 SV=1 CANONICAL=O95427-1" }, "locus": { "chromosome": "18", "start_pos": 62161353, "end_pos": 62045859, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000638369.1", "url": "https://www.ensembl.org/id/ENST00000638369.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000491811.1", "url": "https://www.ensembl.org/id/ENSP00000491811.1" } ] } }, { "isoform_ac": "A0A1W2PQR8-1", "url": "", "sequence": { "sequence": "MHEGSWGISHTRVPTESRPGHVALIAGFYEDVSAVAKGWKENPVEFDSLFNESKYTWSWGSPDILPMFAKGASGDHVYTYSYDAKREDFGAQDATKLDTWVFDNVKDFFHHARNNQSLFSKINEEKIVFFLHLLGIDTNGHAHRPSSRDYKHNIKKVDDGVKEIVSMFNHFYGNDGKTTFIFTSDHGMTDWGSHGAGHPSETLTPLVTWGAGIKYPQRVSAQQFDDAFLKEWRLENWKRLDVNQADIAPLMTSLIGVPFPLNSVGILPVDYLNNTDLFKAESMFTNAVQILEQFKVKMTQKKEVTLPFLFTPFKLLSDSKQFNILRKARSYIKHRKFDEVVSLCKELIHLALKGLSYYHTYDRFFLGVNVVIGFVGWISYASLLIIKSHSNLIKGVSKEVKKPSHLLPCSFVAIGILVAFFLLIQACPWTYYVYGLLPLPIWYAVLREFQVIQDLVVSVLTYPLSHFVGYLLAFTLGIEVLVLSFFYRYMLTAGLTAFAAWPFLTRLWTRAKMTSLSWTFFSLLLAVFPLMPVVGRKPDISLVMGAGLLVLLLSLCVVTSLMKRKDSFIKEELLVHLLQVLSTVLSMYVVYSTQSSLLRKQGLPLMNQIISWATLASSLVVPLLSSPVLFQRLFSILLSLMSTYLLLSTGYEALFPLVLSCLMFVWINIEQETLQQSGVCCKQKLTSIQFSYNTDITQFRQLYLDDIRRAFFLVFFLVTAFFGTGNIASINSFDLASVYCFLTVFSPFMMGALMMWKILIPFVLVMCAFEAVQLTTQLSSKSLFLIVLVISDIMALHFFFLVKDYGSWLDIGTSISHYVIVMSMTIFLVFLNGLAQLLTTKKLRLCGKPKSHFM", "length": 854, "header": "tr|A0A1W2PQR8-1|PIGN_HUMAN Computationally mapped isoform of GPI ethanolamine phosphate transferase 1 OS=Homo sapiens OX=9606 GN=PIGN PE=1 SV=1 CANONICAL=O95427-1" }, "locus": { "chromosome": "18", "start_pos": 62157798, "end_pos": 62045859, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000638435.1", "url": "https://www.ensembl.org/id/ENST00000638435.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000491850.1", "url": "https://www.ensembl.org/id/ENSP00000491850.1" } ] } }, { "isoform_ac": "A0A1W2PQZ1-1", "url": "", "sequence": { "sequence": "MLLFFTLGLLIHFVFFASIFDIYFTSPLVHGMTPQFTPLPPPARRLVLFVADGLRADALYELDENGNSRAPFIRNIIMHEGSWGISHTRVPTESRPGHVALIAGFYEDVSAVAKGWKENPVEFDSLFNESKYTWSWGSPDILPMFAKGASGDHVYTYSYDAKREDFGAQDATKLDTWVFDNVKDFFHHARNNQSLFSKINEEKIVFFLHLLGIDTNGHAHRPSSRDYKHNIKKVDDGVKEIVSMFNHFYGNDGKTTFIFTSDHGMTDWGSHGAGHPSETLTPLVTWGAGIKYPQRVSAQQFDDAFLKEWRLENWKRLDVNQADIAPLMTSLIGVPFPLNSVGILPVDYLNNTDLFKAESMFTNAVQILEQFKVKMTQKKEVTLPFLFTPFKLLSDSKQFNILRKARSYIKHRKFDEVVSLCKELIHLALKGLSYYHTYDRFFLGVNVVIGFVGWISYASLLIIKSHSNLIKGVSKEVKKPSHLLPCSFVAIGILVAFFLLIQACPWTYYVYGLLPLPIWYAVLREFQVIQDLVVSVLTYPLSHFVGYLLAFTLGIEVLVLSFFYRYMLTAGLTAFAAWPFLTRLWTRAKMTSLSWTFFSLLLAVFPLMPVVGRKPDISLVMGAGLLVLLLSLCVVTSLMKRKDSFIKEELLVHLLQVLSTVLSMYVVYSTQSSLLRKQGLPLMNQIISWATLASSLVVPLLSSPVLFQRLFSILLSLMSTYLLLSTGYEALFPLVLSCLMFVWINIEQETLQQSGVCCKQKLTSIQFSYNTDITQFRQLYLDDIRRAFFLVSFVETLV", "length": 798, "header": "tr|A0A1W2PQZ1-1|PIGN_HUMAN Computationally mapped isoform of GPI ethanolamine phosphate transferase 1 OS=Homo sapiens OX=9606 GN=PIGN PE=1 SV=1 CANONICAL=O95427-1" }, "locus": { "chromosome": "18", "start_pos": 62161353, "end_pos": 62088732, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000638424.1", "url": "https://www.ensembl.org/id/ENST00000638424.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000491963.1", "url": "https://www.ensembl.org/id/ENSP00000491963.1" } ] } }, { "isoform_ac": "A0A1W2PR74-1", "url": "", "sequence": { "sequence": "XSYDAKREDFGAQDATKLDTWVFDNVKDFFHHARNNQSLFSKINEEKIVFFLHLLGIDTNGHAHRPSSRDYKHNIKKVDDGVKEIVSMFNHFYGNDGKTTFIFTSDHGMTDWGSHGAGHPSETLTPLVTWGAGIKYPQRVSAQQFDDAFLKEWRLENWKRLDVNQGILPVDYLNNTDLFKAESMFTNAVQILEQFKVKMTQKKEVTLPFLFTPFKLLSDSKQFNILRKARSYIKHRKFDEVVSLCKELIHLALKGLSYYHTYDRFFLGVNVVIGFVGWISYASLLIIKSHSNLIKGVSKEVKKPSHLLPCSFVAIGILVAFFLLIQACPWTYYVYGLLPLPIWYAVLREFQVIQDLVVSVLTYPLSHFVGYLLAFTLGIEVLVLSFFYRYMLTAGLTAFAAWPFLTRLWTRAKMTSLSWTFFSLLLAVFPLMPVVGRKPDISLVMGAGLLVLLLSLCVVTSLMKRKDSFIKEELLVHLLQVLSTVLSMYVVYSTQSSLLRKQGLPLMNQIISWATLASSLVVPLLSSPVLFQRLFSILLSLMSTYLLLSTGYEALFPLVLSCLMFVWINIEQETLQQSGVCCKQKLTSIQFSYNTDITQFRQLYLDDIRRAFFLVFFLVTAFFGTGNIASINSFDLASVYCFLTVFSPFMMGALMMWKILIPFVLVMCAFEAVQLTTQLSSKSLFLIVLVISDIMALHFFFLVKDYGSWLDIGTRHFTGPDCRSTAWRCRKHLTKMELKAMVSDERGQSSK", "length": 751, "header": "tr|A0A1W2PR74-1|PIGN_HUMAN Computationally mapped isoform of GPI ethanolamine phosphate transferase 1 OS=Homo sapiens OX=9606 GN=PIGN PE=1 SV=1 CANONICAL=O95427-1" }, "locus": { "chromosome": "18", "start_pos": 62154623, "end_pos": 62017631, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000639600.1", "url": "https://www.ensembl.org/id/ENST00000639600.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000492474.1", "url": "https://www.ensembl.org/id/ENSP00000492474.1" } ] } }, { "isoform_ac": "A0A1W2PRH3-1", "url": "", "sequence": { "sequence": "MLLFFTLGLLIHFVFFASIFDIYFTSPLVHGMTPQFTPLPPPARRLVLFVADGLRADALYELDENGNSRAPFIRNIIMHEGSWGISHTRVPTESRPGHVALIAGFYEDVSAVAKGWKENPVEFDSLFNESKYTWSWGSPDILPMFAKGASGDHVYTYSYDAKREDFGAQDATKLDTWVFDNVKDFFHHARNNQSLFSKINEEKIVFFLHLLGIDTNGHAHRPSSRDYKHNIKKVDDGVKEIVSMFNHFYGNDGKTTFIFTSDHGMTDWGSHGAGHPSETLTPLVTWGAGIKYPQRVSAQQFDDAFLKEWRLENWKRLDVNQGILPVDYLNNTDLFKAESMFTNAVQILEQFKVKMTQKKEVTLPFLFTPFNCAGS", "length": 375, "header": "tr|A0A1W2PRH3-1|PIGN_HUMAN Computationally mapped isoform of GPI ethanolamine phosphate transferase 1 OS=Homo sapiens OX=9606 GN=PIGN PE=1 SV=1 CANONICAL=O95427-1" }, "locus": { "chromosome": "18", "start_pos": 62161353, "end_pos": 62137100, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000638591.1", "url": "https://www.ensembl.org/id/ENST00000638591.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000492660.1", "url": "https://www.ensembl.org/id/ENSP00000492660.1" } ] } }, { "isoform_ac": "A0A1W2PS19-1", "url": "", "sequence": { "sequence": "MLLFFTLGLLIHFVFFASIFDIYFTSPLVHGMTPQFTPLPPPARRLVLFVADGLRADALYELDENGNSRAPFIRNIIMHEGSWGISHTRVPTESRPGHVALIAGFYEDVSAVAKGWKENPVEFDSLFNESKYTWSWGSPDILPMFAKGASGDHVYTYSYDAKREDFGAQDATKLDTWVFDNVKDFFHHARNNQSLFSKINEEKIVFFLHLLGIDTNGHAHRPSSRDYKHNIKKVDDGVKEIVSMFNHFYGNDGKTTFIFTSDHGMTDWGSHGAGHPSETLTPLVTWGAGIKYPQRVSAQQFDDAFLKEWRLENWKRLDVNQADIAPLMTSLIGVPFPLNSVGILPVDYLNNTDLFKAESMFTNAVQILEQFKVKMTQKKEVTLPFLFTPFKLLSDSKQFNILRKARSYIKHRKFDEVVSLCKELIHLALKGLSYYHTYDRFFLGVNVVIGFVGWISYASLLIIKSHSNLIKGVSKEVKKPSHLLPCSFVAIGILVAFFLLIQACPWTYYVYGLLPLPIWYAVLREFQVIQDLVVSVLTYPLSHFVGYLLAFTLGIEVLVLSFFYRYMLTAGLTAFAAWPFLTRLWTRAKMTSLSWTFFSLLLAVFPLMPVVGRKPDISLVMGAGLLVLLLSLCVVTSLMKRKDSFIKEELLVHLLQVLSTVLSMYVVYSTQSSLLRKQGLPLMNQIISWATLASSLVVPLLSSPVLFQRLFSILLSLMSTYLLLSTGYEALFPLVLSCLMFVWINIEQETLQQSGVCCKQKLTSIQFSYNTDITQFRQLYLDDIRRAFFLVFFLVTAFFGTGNIASINSFDLASVYCFLTVFSPFMMGALMMWKILIPFVLVMCAFEAVQLTTQLSSKSLFLIVLVISDIMALHFFFLVKDYGSWLDIGTRQLLACTAWLFMYISASPNRLWMLSDPGLDLNLLHAIRAWYVKGTP", "length": 936, "header": "tr|A0A1W2PS19-1|PIGN_HUMAN Computationally mapped isoform of GPI ethanolamine phosphate transferase 1 OS=Homo sapiens OX=9606 GN=PIGN PE=1 SV=1 CANONICAL=O95427-1" }, "locus": { "chromosome": "18", "start_pos": 62161353, "end_pos": 62070371, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000639174.1", "url": "https://www.ensembl.org/id/ENST00000639174.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000492783.1", "url": "https://www.ensembl.org/id/ENSP00000492783.1" } ] } }, { "isoform_ac": "K7EID9-1", "url": "", "sequence": { "sequence": "MMINLEARRLVLFVADGLRADALYELDENGNSRAPFIRNIIMHEGSWGISHTRVPTESRPGHVALIAGFYEDVSAVAKGWKENPVEFDSLFNESKYTWSWGSPDILPMFAKGASGDHVYTYSYDAKREDFGAQDATKLDT", "length": 140, "header": "tr|K7EID9-1|PIGN_HUMAN Computationally mapped isoform of GPI ethanolamine phosphate transferase 1 OS=Homo sapiens OX=9606 GN=PIGN PE=1 SV=1 CANONICAL=O95427-1" }, "locus": { "chromosome": "18", "start_pos": 62163549, "end_pos": 62154566, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000590765.5", "url": "https://www.ensembl.org/id/ENST00000590765.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000464707.1", "url": "https://www.ensembl.org/id/ENSP00000464707.1" } ] } }, { "isoform_ac": "K7EJM6-1", "url": "", "sequence": { "sequence": "XPCSFVAIGILVAFFLLIQACPWTYYVYGLLPLPIWYAVLREFQVIQDLVVSVLTYPLSHFVGYLLAFTLGIEVLVLSFFYRYMLTAGLTAFAAWPFLTRLWTRAKMTSLSWTFFSLLLAVFPLMPVVGRKPDISLVILKECI", "length": 143, "header": "tr|K7EJM6-1|PIGN_HUMAN Computationally mapped isoform of GPI ethanolamine phosphate transferase 1 OS=Homo sapiens OX=9606 GN=PIGN PE=1 SV=1 CANONICAL=O95427-1" }, "locus": { "chromosome": "18", "start_pos": 62109957, "end_pos": 62103780, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000590948.5", "url": "https://www.ensembl.org/id/ENST00000590948.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000465241.1", "url": "https://www.ensembl.org/id/ENSP00000465241.1" } ] } }, { "isoform_ac": "K7EL34-1", "url": "", "sequence": { "sequence": "MLLFFTLGLLIHFVFFASIFDIYFTSPLVHGMTPQFTPLPPPARRLVLFVADGLRADALYELDENGNSRAPFIRNIIMHEGSWGISHTRVPTESRPGHVALIAGFYEDVSAVAKGWKENPVEFDSLFNESKYTWSWGSPDILPMFAKGASGDHVYTYSYDAKREDFGAQDATKLDTWVFDNVKDFFHHARNNQSLFSKINEEKIVFFLHLLGIDTNGHAHRPSSRDYKHNIKKVDDGVKEIVSMFNHFYGNDGKTTFIFTSDHGMTDWGSHGAGHPSETLTPL", "length": 283, "header": "tr|K7EL34-1|PIGN_HUMAN Computationally mapped isoform of GPI ethanolamine phosphate transferase 1 OS=Homo sapiens OX=9606 GN=PIGN PE=1 SV=9 CANONICAL=O95427-1" }, "locus": { "chromosome": "18", "start_pos": 62161353, "end_pos": 62145982, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000585344.6", "url": "https://www.ensembl.org/id/ENST00000585344.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000465897.2", "url": "https://www.ensembl.org/id/ENSP00000465897.2" } ] } }, { "isoform_ac": "K7ELE1-1", "url": "", "sequence": { "sequence": "MLLFFTLGLLIHFVFFASIFDIYFTSPLVHGMTPQFTPLPPPARRLVLFVADGLRADALYELDENGNSRAPFIRNIIMHEGSWGISHTRVPTESRPGHVALIAGFYEDVSAVAKGWKENPVEFDSLFNESKYTWSWGSPDILPMFAKGASGDHVYTYSYDAKREDFGAQDATKLDTWVFDNVKDFFHHARNNQSLFSKINEEKIVFFLHLLGIDTNGHAHRPSSRDYKHNIKKVDDGVKEIVSMFNHFYGNDGKTTFIFTSDHGMTDWGSHGAGHPSETLTPLVTWGAGIKYPQRVSAQQFDDAFLKEWRLENWKRLDVNQADIAPLMTSLIGVPFPLNSVGILPVDYLNNTDLFKAESMFTNAVQILEQFKVKMTQKKEVTLPFLFTPFKLLSDSKQFNILRKARSYIKHRKFDEVVSLCKELIHLALKGLSYYHTYDRFFLGVNVVIGFVGWISYASLLIIKSHSNLIKGVSKEVKVRLENVRIQMMV", "length": 490, "header": "tr|K7ELE1-1|PIGN_HUMAN Computationally mapped isoform of GPI ethanolamine phosphate transferase 1 OS=Homo sapiens OX=9606 GN=PIGN PE=1 SV=2 CANONICAL=O95427-1" }, "locus": { "chromosome": "18", "start_pos": 62161353, "end_pos": 62113098, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000589339.6", "url": "https://www.ensembl.org/id/ENST00000589339.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000465506.2", "url": "https://www.ensembl.org/id/ENSP00000465506.2" } ] } }, { "isoform_ac": "K7EMD7-1", "url": "", "sequence": { "sequence": "MLLFFTLGLLIHFVFFASIFDIYFTSPLVHGMTPQFTPLPPPARRLVLFVADGLRADALYELDENGNSRAPFIRNIIMHEGSWGISHTRVPTESRPGHVALIAGFYEDVSAVAKGWKENPVEFDSLFNESKYTWSWGSPDILPMFAKGASGDHVYTYSYDAKREDFGAQDATKLDTWVFDNVKDFFHHARNNQSLFSKINEEKIVFFLHLLGIDTNGHAHRPSSRDYKHNIKKVDDGVKEIVSMFNHFYGNDGKTTFIFTSDHGMTDWGSHGAGHPSETLTPLVTWGAGIKYPQRVSAQQFDDAFLKEWRLENWKRLDVNQADIAPLMTSLIGVPFPLNSVGILPVDYLNNTDLFKAESMFTNAVQILEQFKVKMTQKKEVTLPFLFTPFNCAGS", "length": 395, "header": "tr|K7EMD7-1|PIGN_HUMAN Computationally mapped isoform of GPI ethanolamine phosphate transferase 1 OS=Homo sapiens OX=9606 GN=PIGN PE=1 SV=2 CANONICAL=O95427-1" }, "locus": { "chromosome": "18", "start_pos": 62161353, "end_pos": 62137100, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000591238.6", "url": "https://www.ensembl.org/id/ENST00000591238.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000466462.2", "url": "https://www.ensembl.org/id/ENSP00000466462.2" } ] } }, { "isoform_ac": "K7ENK2-1", "url": "", "sequence": { "sequence": "XLGLLIHFVFFASIFDIYFTSPLVHGMTPQFTPLPPPARRLVLFVADGLRADALYELDENGNSRAPFIRC", "length": 70, "header": "tr|K7ENK2-1|PIGN_HUMAN Computationally mapped isoform of GPI ethanolamine phosphate transferase 1 OS=Homo sapiens OX=9606 GN=PIGN PE=1 SV=2 CANONICAL=O95427-1" }, "locus": { "chromosome": "18", "start_pos": 62161337, "end_pos": 62154647, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000592803.2", "url": "https://www.ensembl.org/id/ENST00000592803.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000466985.2", "url": "https://www.ensembl.org/id/ENSP00000466985.2" } ] } }, { "isoform_ac": "K7EPJ2-1", "url": "", "sequence": { "sequence": "MLLFFTLGLLIHFVFFASIFDIYFTSPLVHGMTPQFTPLPPPARRLVLFVADGLRADALYELDENGNSRAPFIRNIIMHEGSWGISHTRVPTESRPGHVALIAGFYEDVSAVAKGWKENPVEFDSLFNESKYTWSWGSPDILPMFAKGASGDHVYTYSYDAKREDFGAQDATKLDTWVFDNVKDFFHHARNNQSLFSKINEEKIVFFLHLLGIDTNGHAHRPSSRDYKHNIKKVDDGVKEIVSMFNHFYGNDGKTTFIFTSDHGMTDWGSHGAGHPSETLTPLVTWGAGIKYPQRVSAQQFDDAFLKEWRLENWKRLDVNQADIAPLMTSLIGVPFPLNSVGILPVDYLNNTDLFKAESMFTNAVQILEQFKVKMTQKKEVTLPFLFTPFK", "length": 391, "header": "tr|K7EPJ2-1|PIGN_HUMAN Computationally mapped isoform of GPI ethanolamine phosphate transferase 1 OS=Homo sapiens OX=9606 GN=PIGN PE=1 SV=9 CANONICAL=O95427-1" }, "locus": { "chromosome": "18", "start_pos": 62161353, "end_pos": 62138242, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000586566.2", "url": "https://www.ensembl.org/id/ENST00000586566.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000467410.2", "url": "https://www.ensembl.org/id/ENSP00000467410.2" } ] } }, { "isoform_ac": "K7EQG0-1", "url": "", "sequence": { "sequence": "MLLFFTLGLLIHFVFFASIFDIYFTSPLVHGMTPQFTPLPPPARRLVLFVADGLRADALYELDENGNSRAPFIRNIIMHEGSWGISHTRVPTESRPGHVALIAGFYEDVSAVAKGWKENPVEFDSLFNESKYTWSWGS", "length": 138, "header": "tr|K7EQG0-1|PIGN_HUMAN Computationally mapped isoform of GPI ethanolamine phosphate transferase 1 OS=Homo sapiens OX=9606 GN=PIGN PE=1 SV=2 CANONICAL=O95427-1" }, "locus": { "chromosome": "18", "start_pos": 62161353, "end_pos": 62157157, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000585923.6", "url": "https://www.ensembl.org/id/ENST00000585923.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000467812.2", "url": "https://www.ensembl.org/id/ENSP00000467812.2" } ] } }, { "isoform_ac": "K7ERX5-1", "url": "", "sequence": { "sequence": "MLLFFTLGLLIHFVFFASIFDIYFTSPLVHGMTPQFTPLPPPARRLVLFVADGLRADALYELDENGNSRAPFIRNIIMHEGSW", "length": 83, "header": "tr|K7ERX5-1|PIGN_HUMAN Computationally mapped isoform of GPI ethanolamine phosphate transferase 1 OS=Homo sapiens OX=9606 GN=PIGN PE=1 SV=1 CANONICAL=O95427-1" }, "locus": { "chromosome": "18", "start_pos": 62161353, "end_pos": 62157781, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000585926.5", "url": "https://www.ensembl.org/id/ENST00000585926.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000468456.1", "url": "https://www.ensembl.org/id/ENSP00000468456.1" } ] } }, { "isoform_ac": "K7ESH9-1", "url": "", "sequence": { "sequence": "MLLFFTLGLLIHFVFFASIFDIYFTSPLVHGMTPQFTPLPPPARRLVLFVADGLRADALYELDENGNSRAPFIRNIIMHEGSWGISHTRVPTESRPGHVALIAGFYEDVSAVAKGWKENPVEFDSLFNESKYTWSWGSPDILPMFAKGASGDHVYTYSYDAKREDFGAQDATKLDTWVFDNVKVCAIEWLIYKKHIFT", "length": 198, "header": "tr|K7ESH9-1|PIGN_HUMAN Computationally mapped isoform of GPI ethanolamine phosphate transferase 1 OS=Homo sapiens OX=9606 GN=PIGN PE=1 SV=9 CANONICAL=O95427-1" }, "locus": { "chromosome": "18", "start_pos": 62161353, "end_pos": 62154500, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000589720.6", "url": "https://www.ensembl.org/id/ENST00000589720.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000468721.2", "url": "https://www.ensembl.org/id/ENSP00000468721.2" } ] } }, { "isoform_ac": "O95427-1", "url": "", "sequence": { "sequence": "MLLFFTLGLLIHFVFFASIFDIYFTSPLVHGMTPQFTPLPPPARRLVLFVADGLRADALYELDENGNSRAPFIRNIIMHEGSWGISHTRVPTESRPGHVALIAGFYEDVSAVAKGWKENPVEFDSLFNESKYTWSWGSPDILPMFAKGASGDHVYTYSYDAKREDFGAQDATKLDTWVFDNVKDFFHHARNNQSLFSKINEEKIVFFLHLLGIDTNGHAHRPSSRDYKHNIKKVDDGVKEIVSMFNHFYGNDGKTTFIFTSDHGMTDWGSHGAGHPSETLTPLVTWGAGIKYPQRVSAQQFDDAFLKEWRLENWKRLDVNQADIAPLMTSLIGVPFPLNSVGILPVDYLNNTDLFKAESMFTNAVQILEQFKVKMTQKKEVTLPFLFTPFKLLSDSKQFNILRKARSYIKHRKFDEVVSLCKELIHLALKGLSYYHTYDRFFLGVNVVIGFVGWISYASLLIIKSHSNLIKGVSKEVKKPSHLLPCSFVAIGILVAFFLLIQACPWTYYVYGLLPLPIWYAVLREFQVIQDLVVSVLTYPLSHFVGYLLAFTLGIEVLVLSFFYRYMLTAGLTAFAAWPFLTRLWTRAKMTSLSWTFFSLLLAVFPLMPVVGRKPDISLVMGAGLLVLLLSLCVVTSLMKRKDSFIKEELLVHLLQVLSTVLSMYVVYSTQSSLLRKQGLPLMNQIISWATLASSLVVPLLSSPVLFQRLFSILLSLMSTYLLLSTGYEALFPLVLSCLMFVWINIEQETLQQSGVCCKQKLTSIQFSYNTDITQFRQLYLDDIRRAFFLVFFLVTAFFGTGNIASINSFDLASVYCFLTVFSPFMMGALMMWKILIPFVLVMCAFEAVQLTTQLSSKSLFLIVLVISDIMALHFFFLVKDYGSWLDIGTSISHYVIVMSMTIFLVFLNGLAQLLTTKKLRLCGKPKSHFM", "length": 931, "header": "sp|O95427-1|PIGN_HUMAN Isoform 1 of GPI ethanolamine phosphate transferase 1 OS=Homo sapiens OX=9606 GN=PIGN PE=1 SV=1 CANONICAL=O95427-1" }, "locus": { "chromosome": "18", "start_pos": 62161353, "end_pos": 62045859, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000400334.7", "url": "https://www.ensembl.org/id/ENST00000400334.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000383188.2", "url": "https://www.ensembl.org/id/ENSP00000383188.2" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G70101JE", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 128, "start_aa": "Asn", "end_pos": 128, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn128", "evidence": [ { "id": "1284", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1284" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 128, "start_aa": "Asn", "end_pos": 128, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn128", "evidence": [ { "id": "O95427", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O95427#ptm_processing" }, { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 191, "start_aa": "Asn", "end_pos": 191, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn191", "evidence": [ { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 192, "start_aa": "Asn", "end_pos": 192, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn192", "evidence": [ { "id": "O95427", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O95427#ptm_processing" }, { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 350, "start_aa": "Asn", "end_pos": 350, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn350", "evidence": [ { "id": "O95427", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O95427#ptm_processing" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_reported", "glycoprotein_predicted", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "MCD4 encodes a conserved endoplasmic reticulum membrane protein essential for glycosylphosphatidylinositol anchor synthesis in yeast.", "journal": "Mol. Biol. Cell", "date": "1999", "authors": "Gaynor EC, Mondesert G, Grimme SJ, Reed SI, Orlean P, Emr SD", "evidence": [ { "database": "UniProtKB", "id": "O95427", "url": "https://www.uniprot.org/uniprot/O95427" }, { "database": "Reactome", "id": "R-HSA-162710", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-162710" } ], "reference": [ { "type": "PubMed", "id": "10069808", "url": "https://glygen.org/publication/PubMed/10069808" } ] }, { "title": "Differences between the trypanosomal and human GlcNAc-PI de-N-acetylases of glycosylphosphatidylinositol membrane anchor biosynthesis.", "journal": "Glycobiology", "date": "1999", "authors": "Sharma DK, Smith TK, Weller CT, Crossman A, Brimacombe JS, Ferguson MA", "evidence": [ { "database": "Reactome", "id": "R-HSA-162710", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-162710" } ], "reference": [ { "type": "PubMed", "id": "10089216", "url": "https://glygen.org/publication/PubMed/10089216" } ] }, { "title": "Initial enzyme for glycosylphosphatidylinositol biosynthesis requires PIG-P and is regulated by DPM2.", "journal": "The EMBO journal", "date": "2000", "authors": "Watanabe R, Murakami Y, Marmor MD, Inoue N, Maeda Y, Hino J, Kangawa K, Julius M, Kinoshita T", "evidence": [ { "database": "Reactome", "id": "R-HSA-162710", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-162710" } ], "reference": [ { "type": "PubMed", "id": "10944123", "url": "https://glygen.org/publication/PubMed/10944123" } ] }, { "title": "PIG-M transfers the first mannose to glycosylphosphatidylinositol on the lumenal side of the ER.", "journal": "The EMBO journal", "date": "2001", "authors": "Maeda Y, Watanabe R, Harris CL, Hong Y, Ohishi K, Kinoshita K, Kinoshita T", "evidence": [ { "database": "Reactome", "id": "R-HSA-162710", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-162710" } ], "reference": [ { "type": "PubMed", "id": "11226175", "url": "https://glygen.org/publication/PubMed/11226175" } ] }, { "title": "PIG-W is critical for inositol acylation but not for flipping of glycosylphosphatidylinositol-anchor.", "journal": "Molecular biology of the cell", "date": "2003", "authors": "Murakami Y, Siripanyapinyo U, Hong Y, Kang JY, Ishihara S, Nakakuma H, Maeda Y, Kinoshita T", "evidence": [ { "database": "Reactome", "id": "R-HSA-162710", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-162710" } ], "reference": [ { "type": "PubMed", "id": "14517336", "url": "https://glygen.org/publication/PubMed/14517336" } ] }, { "title": "Subcellular localization and targeting of N-acetylglucosaminyl phosphatidylinositol de-N-acetylase, the second enzyme in the glycosylphosphatidylinositol biosynthetic pathway.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Pottekat A, Menon AK", "evidence": [ { "database": "Reactome", "id": "R-HSA-162710", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-162710" } ], "reference": [ { "type": "PubMed", "id": "14742432", "url": "https://glygen.org/publication/PubMed/14742432" } ] }, { "title": "PIG-V involved in transferring the second mannose in glycosylphosphatidylinositol.", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Kang JY, Hong Y, Ashida H, Shishioh N, Murakami Y, Morita YS, Maeda Y, Kinoshita T", "evidence": [ { "database": "Reactome", "id": "R-HSA-162710", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-162710" } ], "reference": [ { "type": "PubMed", "id": "15623507", "url": "https://glygen.org/publication/PubMed/15623507" } ] }, { "title": "GPI7 is the second partner of PIG-F and involved in modification of glycosylphosphatidylinositol.", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Shishioh N, Hong Y, Ohishi K, Ashida H, Maeda Y, Kinoshita T", "evidence": [ { "database": "Reactome", "id": "R-HSA-162710", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-162710" } ], "reference": [ { "type": "PubMed", "id": "15632136", "url": "https://glygen.org/publication/PubMed/15632136" } ] }, { "title": "Mammalian PIG-X and yeast Pbn1p are the essential components of glycosylphosphatidylinositol-mannosyltransferase I.", "journal": "Molecular biology of the cell", "date": "2005", "authors": "Ashida H, Hong Y, Murakami Y, Shishioh N, Sugimoto N, Kim YU, Maeda Y, Kinoshita T", "evidence": [ { "database": "Reactome", "id": "R-HSA-162710", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-162710" } ], "reference": [ { "type": "PubMed", "id": "15635094", "url": "https://glygen.org/publication/PubMed/15635094" } ] }, { "title": "Saccharomyces cerevisiae Ybr004c and its human homologue are required for addition of the second mannose during glycosylphosphatidylinositol precursor assembly.", "journal": "The FEBS journal", "date": "2005", "authors": "Fabre AL, Orlean P, Taron CH", "evidence": [ { "database": "Reactome", "id": "R-HSA-162710", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-162710" } ], "reference": [ { "type": "PubMed", "id": "15720390", "url": "https://glygen.org/publication/PubMed/15720390" } ] }, { "title": "The initial enzyme for glycosylphosphatidylinositol biosynthesis requires PIG-Y, a seventh component.", "journal": "Molecular biology of the cell", "date": "2005", "authors": "Murakami Y, Siripanyaphinyo U, Hong Y, Tashima Y, Maeda Y, Kinoshita T", "evidence": [ { "database": "Reactome", "id": "R-HSA-162710", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-162710" } ], "reference": [ { "type": "PubMed", "id": "16162815", "url": "https://glygen.org/publication/PubMed/16162815" } ] }, { "title": "Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN.", "journal": "Journal of medical genetics", "date": "2011", "authors": "Maydan G, Noyman I, Har-Zahav A, Neriah ZB, Pasmanik-Chor M, Yeheskel A, Albin-Kaplanski A, Maya I, Magal N, Birk E, Simon AJ, Halevy A, Rechavi G, Shohat M, Straussberg R, Basel-Vanagaite L", "evidence": [ { "database": "UniProtKB", "id": "O95427", "url": "https://www.uniprot.org/uniprot/O95427" } ], "reference": [ { "type": "PubMed", "id": "21493957", "url": "https://glygen.org/publication/PubMed/21493957" } ] }, { "title": "Replication stress links structural and numerical cancer chromosomal instability.", "journal": "Nature", "date": "2013-02-28", "authors": "Burrell Rebecca A, McClelland Sarah E, Endesfelder David, Groth Petra, Weller Marie-Christine, Shaikh Nadeem, Domingo Enric, Kanu Nnennaya, Dewhurst Sally M, Gronroos Eva, Chew Su Kit, Rowan Andrew J, Schenk Arne, Sheffer Michal, Howell Michael, Kschischo Maik, Behrens Axel, Helleday Thomas, Bartek Jiri, Tomlinson Ian P, Swanton Charles", "evidence": [ { "database": "UniProtKB", "id": "O95427", "url": "https://www.uniprot.org/uniprot/O95427" } ], "reference": [ { "type": "PubMed", "id": "23446422", "url": "https://glygen.org/publication/PubMed/23446422" } ] }, { "title": "N-linked glycosylation enrichment for in-depth cell surface proteomics of diffuse large B-cell lymphoma subtypes.", "journal": "Molecular & cellular proteomics : MCP", "date": "2014", "authors": "Deeb SJ, Cox J, Schmidt-Supprian M, Mann M", "evidence": [ { "database": "GlyGen", "id": "GLY_000143", "url": "https://data.glygen.org/GLY_000143" } ], "reference": [ { "type": "PubMed", "id": "24190977", "url": "https://glygen.org/publication/PubMed/24190977" } ] }, { "title": "Reanalysis of Global Proteomic and Phosphoproteomic Data Identified a Large Number of Glycopeptides.", "journal": "Analytical chemistry", "date": "2018", "authors": "Hu Y, Shah P, Clark DJ, Ao M, Zhang H", "evidence": [ { "database": "GlyConnect", "id": "1284", "url": "https://glyconnect.expasy.org/browser/proteins/1284" } ], "reference": [ { "type": "PubMed", "id": "29741879", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "title": "Novel insights into the clinico-radiological spectrum of phenotypes associated to PIGN mutations.", "journal": "European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society", "date": "2021", "authors": "De Giorgis V, Paoletti M, Varesio C, Gana S, Rognone E, Dallavalle G, Papalia G, Pichiecchio A", "evidence": [ { "database": "RefSeq", "id": "NP_036459", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036459" } ], "reference": [ { "type": "PubMed", "id": "34051595", "url": "https://glygen.org/publication/PubMed/34051595" } ] }, { "title": "PIGN spatiotemporally regulates the spindle assembly checkpoint proteins in leukemia transformation and progression.", "journal": "Scientific reports", "date": "2021", "authors": "Teye EK, Lu S, Chen F, Yang W, Abraham T, Stairs DB, Wang HG, Yochum GS, Brodsky RA, Pu JJ", "evidence": [ { "database": "RefSeq", "id": "NP_036459", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036459" } ], "reference": [ { "type": "PubMed", "id": "34561473", "url": "https://glygen.org/publication/PubMed/34561473" } ] }, { "title": "Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype-phenotype correlation study.", "journal": "Genetics in medicine : official journal of the American College of Medical Genetics", "date": "2022-11-02", "authors": "Loong Lucy, Tardivo Agostina, Knaus Alexej, Hashim Mona, Pagnamenta Alistair T, Alt Kerstin, B\u00f6hrer-Rabel Helena, Caro-Llopis Alfonso, Cole Trevor, Distelmaier Felix, Edery Patrick, Ferreira Carlos R, Jezela-Stanek Aleksandra, Kerr Bronwyn, Kluger Gerhard, Krawitz Peter M, Kuhn Marius, Lemke Johannes R, Lesca Gaetan, Lynch Sally Ann, Martinez Francisco, Maxton Caroline, Mierzewska Hanna, Monfort Sandra, Nicolai Joost, Orellana Carmen, Pal Deb K, P\u0142oski Rafa\u0142, Quarrell Oliver W, Rosello Monica, Rydzanicz Ma\u0142gorzata, Sabir Ataf, \u015amigiel Robert, Stegmann Alexander P A, Stewart Helen, Stumpel Constance, Szczepanik El\u017cbieta, Tzschach Andreas, Wolfe Lynne, Taylor Jenny C, Murakami Yoshiko, Kinoshita Taroh, Bayat Allan, Kini Usha", "evidence": [ { "database": "RefSeq", "id": "NP_036459", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036459" } ], "reference": [ { "type": "PubMed", "id": "36322149", "url": "https://glygen.org/publication/PubMed/36322149" } ] }, { "title": "PIGN-Related Disease in Two Lithuanian Families: A Report of Two Novel Pathogenic Variants, Molecular and Clinical Characterisation.", "journal": "Medicina (Kaunas, Lithuania)", "date": "2022-10-26", "authors": "Siavrien\u0117 Evelina, Mald\u017eien\u0117 \u017divil\u0117, Mik\u0161tien\u0117 Violeta, Petraityt\u0117 Gunda, Ran\u010delis Tautvydas, Dapk\u016bnas Justas, Burnyt\u0117 Birut\u0117, Benu\u0161ien\u0117 Egl\u0117, Sasnauskien\u0117 Au\u0161ra, Grikinien\u0117 Jurgita, Gri\u0161kevi\u010di\u016bt\u0117 Egl\u0117, Utkus Algirdas, Preik\u0161aitien\u0117 Egl\u0117", "evidence": [ { "database": "RefSeq", "id": "NP_036459", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036459" } ], "reference": [ { "type": "PubMed", "id": "36363484", "url": "https://glygen.org/publication/PubMed/36363484" } ] }, { "title": "PIG-B, a membrane protein of the endoplasmic reticulum with a large lumenal domain, is involved in transferring the third mannose of the GPI anchor.", "journal": "The EMBO journal", "date": "1996", "authors": "Takahashi M, Inoue N, Ohishi K, Maeda Y, Nakamura N, Endo Y, Fujita T, Takeda J, Kinoshita T", "evidence": [ { "database": "Reactome", "id": "R-HSA-162710", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-162710" } ], "reference": [ { "type": "PubMed", "id": "8861954", "url": "https://glygen.org/publication/PubMed/8861954" } ] }, { "title": "PIG-A and PIG-H, which participate in glycosylphosphatidylinositol anchor biosynthesis, form a protein complex in the endoplasmic reticulum.", "journal": "The Journal of biological chemistry", "date": "1996", "authors": "Watanabe R, Kinoshita T, Masaki R, Yamamoto A, Takeda J, Inoue N", "evidence": [ { "database": "Reactome", "id": "R-HSA-162710", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-162710" } ], "reference": [ { "type": "PubMed", "id": "8900170", "url": "https://glygen.org/publication/PubMed/8900170" } ] }, { "title": "The first step of glycosylphosphatidylinositol biosynthesis is mediated by a complex of PIG-A, PIG-H, PIG-C and GPI1.", "journal": "The EMBO journal", "date": "1998", "authors": "Watanabe R, Inoue N, Westfall B, Taron CH, Orlean P, Takeda J, Kinoshita T", "evidence": [ { "database": "Reactome", "id": "R-HSA-162710", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-162710" } ], "reference": [ { "type": "PubMed", "id": "9463366", "url": "https://glygen.org/publication/PubMed/9463366" } ] } ], "pathway": [ { "id": "hsa:23556", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:23556", "resource": "KEGG Pathway" }, { "id": "R-HSA-162710", "name": "Synthesis of glycosylphosphatidylinositol (GPI)", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-162710", "resource": "Reactome", "description": "Synthesis of glycosylphosphatidylinositol (GPI)" } ], "orthologs": [ { "uniprot_canonical_ac": "Q9R1S3-1", "protein_name": "GPI ethanolamine phosphate transferase 1", "gene_name": "Pign", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MLLFFALGLLIHFVFFASIFDIYFTSPLVHGMTPQFTPLPPPAKRLVLFVADGLRADTLYELDEDGNSRAPFIRNVIIHEGSWGVSHTRVPTESRPGHVALIAGFYEDVSAVAKGWKENPVEFDSLFNESKYTWSWGSPDILPMFAKGASGDHVYTYSYDAQREDFGAHDATKLDTWVFDKVKDFFDAARNNQSLFTKVNEEKVVFFLHLLGIDTNGHAHRPSSREYKDNIKKVDDGVKEIVSIFKHFYGDDGKTAFIFTSDHGMTDWGSHGAGHPSETLTPFVTWGAGIKFPQNVSAQQYDDEFLKEWRLENWKRRDVNQADIAPLMASLIGVPFPLNSVGILPVGYLNNTGLFKAESMFTNAVQILEQFKVKMTQKKEATLPFLFTPFKLLSDSQQLDILRKARSYIKQEKFDEVVSLCEELIDLALRGLSYYHTYDRLFLGINVAVGFVGWMSYTSLLIIKSHSNIPKGTRKEGKKPHCLLLYSFIATGVLVACFLMIQACPWTYYVYCLLPVPIWYAVLREHEVIQDLVESLLTFPRSHFVAYLLVFTLGIEVLVLSFFYRYMLTAGLIVFAGWPFLTQLWTRAKITFLSWAFFSLLLAVFPLMPVVGRKPNLSLVMGAGFLVLLLSLAVVTTLGKRNIKLVKGELLVLLLQMLSTVLSMYVVYSTHHSLLKKEGLPLMNQIVSWATLASSLVAPLLSSTALSQRLASILLSLMSTYLLLSTGYEALFPLVLSCLMFVWIQVEQETLQQPGVSCKQKLTSIQFTCDTDIAQFRQLCPDDIRRAFFLVFFLLTAFFGTGNIASINSFDLASVYCFLTVFSPFMMGALMMWKILIPFVLVMCAFEAVQITTQLSSKGLFLVVLIISDIMALHFFFLVKDSGSWLDIGTSISHYVIVMSMTIFLVFLNGLAQLLTTKKLQLCGKPKSHLM", "length": 931 }, "evidence": [ { "id": "45930616", "url": "http://www.informatics.jax.org/homology/45930616", "database": "MGI" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 2, "go_terms": [ { "name": "mannose-ethanolamine phosphotransferase activity", "id": "GO:0051377", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051377", "evidence": [ { "database": "UniProtKB", "id": "O95427", "url": "https://www.uniprot.org/uniprot/O95427" } ], "pmid": "" }, { "name": "sulfuric ester hydrolase activity", "id": "GO:0008484", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008484", "evidence": [ { "database": "UniProtKB", "id": "O95427", "url": "https://www.uniprot.org/uniprot/O95427" } ], "pmid": "" } ] }, { "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": "O95427", "url": "https://www.uniprot.org/uniprot/O95427" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "O95427", "url": "https://www.uniprot.org/uniprot/O95427" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "O95427", "url": "https://www.uniprot.org/uniprot/O95427" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "O95427", "url": "https://www.uniprot.org/uniprot/O95427" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 1, "go_terms": [ { "name": "preassembly of GPI anchor in ER membrane", "id": "GO:0016254", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016254", "evidence": [ { "database": "UniProtKB", "id": "O95427", "url": "https://www.uniprot.org/uniprot/O95427" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 128, "end_pos": 130, "annotation": "n_glycosylation_sequon" }, { "start_pos": 192, "end_pos": 194, "annotation": "n_glycosylation_sequon" }, { "start_pos": 350, "end_pos": 352, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "R-HSA-162798", "name": "mannose(a1-4)glucosaminyl-acyl-PI + phosphatidylethanolamine -> (ethanolamineP) mannose(al1-4)glucosaminyl-acyl-PI + diacylglycerol", "equation": "", "summary": "In the sixth step of GPI synthesis, a phosphoethanolamine group is transferred from phosphatidylethanolamine onto the first mannose of the GPI precursor. The human protein that catalyzes this reaction was first identified because it could complement a yeast mutant strain defective for GPI synthesis (Gaynor et al. 1999); its specific function in phosphoethanolamine transfer is inferred from functional studies of the homologous mouse protein (Hong et al. 1999). The reaction is annotated here with phosphatidylethanolamine as the donor of the phosphoethanolamine group on the basis of studies in yeast (Imhof et al. 2000).", "cellular_location": "endoplasmic reticulum membrane", "input_participant_list": [ "R-ALL-8855659" ], "output_participant_list": [ "R-ALL-8855663" ], "enzyme_list": [ "O95427-1" ], "evidence": [ { "id": "R-HSA-162798", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-162798" } ] } ], "reaction_participants": [ { "participant_id": "R-ALL-8855659", "participant_name": "mannose (a1-4) glucosaminyl-acyl-PI [integral component of lumenal side of endoplasmic reticulum membrane]", "crossref": [ { "id": "53056", "database": "ChEBI", "url": "" }, { "id": "53056", "database": "ChEBI", "url": "" }, { "id": "53056", "database": "ChEBI", "url": "" }, { "id": "53056", "database": "ChEBI", "url": "" }, { "id": "53056", "database": "ChEBI", "url": "" }, { "id": "53056", "database": "ChEBI", "url": "" }, { "id": "53056", "database": "ChEBI", "url": "" } ] }, { "participant_id": "R-ALL-8855663", "participant_name": "(ethanolamineP) mannose (a1-4) glucosaminyl-acyl-PI [integral component of lumenal side of endoplasmic reticulum membrane]", "crossref": [ { "id": "63563", "database": "ChEBI", "url": "" }, { "id": "63563", "database": "ChEBI", "url": "" }, { "id": "63563", "database": "ChEBI", "url": "" }, { "id": "63563", "database": "ChEBI", "url": "" }, { "id": "63563", "database": "ChEBI", "url": "" }, { "id": "63563", "database": "ChEBI", "url": "" }, { "id": "63563", "database": "ChEBI", "url": "" } ] } ], "reaction_enzymes": [ { "uniprot_ac": "O95427", "gene_name": "PIGN", "activity": [ { "ec_number": "2.-.-.-", "activity": "", "evidence": [ { "id": "O95427", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O95427" } ] } ] } ], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "sequence_features": { "n_linked_sites": [ 128, 191, 192, 350 ], "o_linked_sites": [], "snv_sites": [ 67, 69, 86, 130, 170, 241, 352, 616, 761, 772, 805, 891 ], "glycation_sites": [], "phosphorylation_sites": [], "sequon_annotation_sites": [ { "start_pos": 128, "end_pos": 130 }, { "start_pos": 192, "end_pos": 194 }, { "start_pos": 350, "end_pos": 352 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 5 }, { "field": "total_sites", "count": 4 }, { "field": "n_linked_glycans", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 5 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 3 }, { "field": "total_sites", "count": 3 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 3 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 13 }, { "field": "total_sites", "count": 12 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 4 }, { "field": "total_sites", "count": 3 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 9 }, { "field": "total_sites", "count": 9 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 22 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }