{ "uniprot_canonical_ac": "Q969N2-1", "uniprot_ac": "Q969N2", "uniprot_id": "PIGT_HUMAN", "mass": { "chemical_mass": 65700.0, "monoisotopic_mass": 65700.0 }, "refseq": { "ac": "NP_001171657", "name": "GPI transamidase component PIG-T isoform 2 precursor", "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 an essential component of the multisubunit enzyme, GPI transamidase. GPI transamidase mediates GPI anchoring in the endoplasmic reticulum, by catalyzing the transfer of fully assembled GPI units to proteins. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171657" }, "gene_names": [ { "name": "PIGT", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q969N2", "id": "Q969N2" }, { "name": "CGI-06; MCAHS3; NDAP; PIG-T; PNH2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171657", "id": "NP_001171657" }, { "name": "CGI-06", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q969N2", "id": "Q969N2" }, { "name": "PIGT", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171657", "id": "NP_001171657" }, { "name": "PRO1379", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q969N2", "id": "Q969N2" }, { "name": "PSEC0163", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q969N2", "id": "Q969N2" } ], "protein_names": [ { "name": "GPI transamidase component PIG-T", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q969N2" }, { "name": "GPI transamidase component PIG-T isoform 2 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171657", "id": "NP_001171657" }, { "name": "Phosphatidylinositol-glycan biosynthesis class T protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q969N2" }, { "name": "neurotrophin-regulated neuronal development-associated protein; GPI transamidase subunit; GPI transamidase component PIG-T; phosphatidylinositol-glycan biosynthesis class T protein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171657", "id": "NP_001171657" } ], "function": [ { "annotation": "Bilateral anterior segment dysgenesis and peripheral avascular retina with tractional retinal detachment in an infant with multiple congenital anomalies-hypotony-seizures syndrome 3.", "evidence": [ { "database": "RefSeq", "id": "NP_001171657", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171657" }, { "database": "PubMed", "id": "33620284", "url": "https://glygen.org/publication/PubMed/33620284" } ] }, { "annotation": "Component of the GPI transamidase complex. Essential for transfer of GPI to proteins, particularly for formation of carbonyl intermediates.", "evidence": [ { "database": "UniProtKB", "id": "Q969N2", "url": "https://www.uniprot.org/uniprot/Q969N2#function" }, { "database": "PubMed", "id": "11483512", "url": "https://glygen.org/publication/PubMed/11483512" }, { "database": "PubMed", "id": "34576938", "url": "https://glygen.org/publication/PubMed/34576938" } ] }, { "annotation": "Evidence of the milder phenotypic spectrum of c.1582G>A PIGT variant: Delineation based on seven novel Polish patients.", "evidence": [ { "database": "RefSeq", "id": "NP_001171657", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171657" }, { "database": "PubMed", "id": "32725661", "url": "https://glygen.org/publication/PubMed/32725661" } ] }, { "annotation": "GPI8 and PIG-T form a functionally important intermolecular disulfide bridge", "evidence": [ { "database": "RefSeq", "id": "NP_001171657", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171657" }, { "database": "PubMed", "id": "12582175", "url": "https://glygen.org/publication/PubMed/12582175" } ] }, { "annotation": "PIGT-knockout HEK293 cells showed that p.(E237Q) results in a small reduction in the amount of CD59 anchored to the cell membrane.", "evidence": [ { "database": "RefSeq", "id": "NP_001171657", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171657" }, { "database": "PubMed", "id": "28327575", "url": "https://glygen.org/publication/PubMed/28327575" } ] }, { "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 an essential component of the multisubunit enzyme, GPI transamidase. GPI transamidase mediates GPI anchoring in the endoplasmic reticulum, by catalyzing the transfer of fully assembled GPI units to proteins. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012].", "evidence": [ { "database": "RefSeq", "id": "NP_001171657", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171657" } ] }, { "annotation": "Whole-exome sequencing revealed compound heterozygous mutations (c.250G > T, p.Glu84X and c.1096G > T, p.Gly366Trp) in PIGT (NM_015937.5), which were confirmed using Sanger sequencing. Thus inherited GPI anchor deficiency associated with these PIGT mutations was diagnosed", "evidence": [ { "database": "RefSeq", "id": "NP_001171657", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171657" }, { "database": "PubMed", "id": "28728837", "url": "https://glygen.org/publication/PubMed/28728837" } ] } ], "disease": [ { "disease_id": "DOID:0060284", "recommended_name": { "id": "DOID:0060284", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060284", "name": "paroxysmal nocturnal hemoglobinuria", "description": "An acquired hemolytic anemia that is characterized by abdominal pain, hematuria, esophageal dysmotility and thrombosis, has_material_basis_in defect in the cell membrane glycosyl phosphatidylinositols that protect red blood cells from the innate complement immune system." }, "synonyms": [ { "id": "MONDO:0010438", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010438", "name": "paroxysmal nocturnal hemoglobinuria 1", "description": "Any paroxysmal nocturnal hemoglobinuria in which the cause of the disease is a mutation in the PIGA gene." }, { "id": "MONDO:0010438", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010438", "name": "PIGA paroxysmal nocturnal hemoglobinuria", "description": "" }, { "id": "MONDO:0010438", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010438", "name": "pIgA paroxysmal nocturnal hemoglobinuria", "description": "" }, { "id": "MONDO:0010438", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010438", "name": "paroxysmal nocturnal hemoglobinuria 1", "description": "" }, { "id": "MONDO:0010438", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010438", "name": "paroxysmal nocturnal hemoglobinuria caused by mutation in PIGA", "description": "" }, { "id": "MONDO:0010438", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010438", "name": "paroxysmal nocturnal hemoglobinuria caused by mutation in pIgA", "description": "" }, { "id": "MONDO:0010438", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010438", "name": "paroxysmal nocturnal hemoglobinuria type 1", "description": "" }, { "id": "MONDO:0010438", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010438", "name": "paroxysmal nocturnal hemoglobinuria, somatic", "description": "" }, { "id": "MONDO:0010438", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010438", "name": "PNH1", "description": "" }, { "id": "MONDO:0014166", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014166", "name": "paroxysmal nocturnal hemoglobinuria 2", "description": "Any paroxysmal nocturnal hemoglobinuria in which the cause of the disease is a mutation in the PIGT gene." }, { "id": "MONDO:0014166", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014166", "name": "PIGT paroxysmal nocturnal hemoglobinuria", "description": "" }, { "id": "MONDO:0014166", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014166", "name": "paroxysmal nocturnal hemoglobinuria 2", "description": "" }, { "id": "MONDO:0014166", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014166", "name": "paroxysmal nocturnal hemoglobinuria 2, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0014166", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014166", "name": "paroxysmal nocturnal hemoglobinuria caused by mutation in PIGT", "description": "" }, { "id": "MONDO:0014166", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014166", "name": "paroxysmal nocturnal hemoglobinuria type 2", "description": "" }, { "id": "MONDO:0014166", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014166", "name": "PNH2", "description": "" }, { "id": "MIM:300818", "resource": "MIM", "url": "https://www.omim.org/entry/300818", "name": "Paroxysmal nocturnal hemoglobinuria 1", "description": "Paroxysmal nocturnal hemoglobinuria 1" }, { "id": "MIM:615399", "resource": "MIM", "url": "https://www.omim.org/entry/615399", "name": "Paroxysmal nocturnal hemoglobinuria 2", "description": "Paroxysmal nocturnal hemoglobinuria 2" } ], "evidence": [ { "id": "0014166", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014166" }, { "id": "615399", "database": "MIM", "url": "https://www.omim.org/entry/615399" } ] }, { "disease_id": "DOID:0080140", "recommended_name": { "id": "DOID:0080140", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080140", "name": "multiple congenital anomalies-hypotonia-seizures syndrome 3", "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 that has_material_basis_in homozygous or compound heterozygous mutation in the PIGT gene on chromosome 20q13." }, "synonyms": [ { "id": "DOID:0080140", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080140", "name": "M syndrome", "description": "" }, { "id": "DOID:0080140", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080140", "name": "light fixation seizure syndrome", "description": "" }, { "id": "MONDO:0014165", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014165", "name": "multiple congenital anomalies-hypotonia-seizures syndrome 3", "description": "A rare congenital disorder of glycosylation characterized by neonatal hypotonia, global development delay, developmental regress and severe to profound intellectual disability, infantile onset seizures that are initially associated with febrile episodes with subsequent transition to unprovoked seizures, impaired vision with esotropia and nystagmus, progressive cerebral and cerebellar atrophy, skeletal abnormalities (including brachycephaly, scoliosis, slender long bones, delayed bone age, pectus excavatum and osteopenia), inverted nipples and dysmorphic features including high and narrow forehead, frontal bossing, short nose, depressed nasal bridge, anteverted nares, high palate and wide open mouth consistent with facial hypotonia. Other features may include cardiac abnormalities (such as patent ductus arteriosus, atrial septal defects), urogenital abnormalities (such as nephrocalcinosis, urolithiasis), and low plasma concentration of alkaline phosphatase." }, { "id": "MONDO:0014165", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014165", "name": "LFSS", "description": "" }, { "id": "MONDO:0014165", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014165", "name": "MCAHS type 3", "description": "" }, { "id": "MONDO:0014165", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014165", "name": "PIGT multiple congenital anomalies/dysmorphic syndrome-intellectual disability", "description": "" }, { "id": "MONDO:0014165", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014165", "name": "PIGT-CDG", "description": "" }, { "id": "MONDO:0014165", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014165", "name": "congenital disorder of glycosylation due to PIGT deficiency", "description": "" }, { "id": "MONDO:0014165", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014165", "name": "light fixation seizure syndrome", "description": "" }, { "id": "MONDO:0014165", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014165", "name": "multiple congenital anomalies-hypotonia-seizures syndrome 3", "description": "" }, { "id": "MONDO:0014165", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014165", "name": "multiple congenital anomalies-hypotonia-seizures syndrome type 3", "description": "" }, { "id": "MONDO:0014165", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014165", "name": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability caused by mutation in PIGT", "description": "" }, { "id": "MONDO:0014165", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014165", "name": "M syndrome", "description": "" }, { "id": "MONDO:0014165", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014165", "name": "MCAHS3", "description": "" }, { "id": "MONDO:0014165", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014165", "name": "glycosylphosphatidylinositol biosynthesis defect 7", "description": "" }, { "id": "MONDO:0014165", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014165", "name": "intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome", "description": "" }, { "id": "MONDO:0014165", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014165", "name": "multiple congenital anomalies-hypotonia-seizures syndrome 3", "description": "A rare congenital disorder of glycosylation characterized by neonatal hypotonia, global development delay, developmental regress and severe to profound intellectual disability, infantile onset seizures that are initially associated with febrile episodes with subsequent transition to unprovoked seizures, impaired vision with esotropia and nystagmus, progressive cerebral and cerebellar atrophy, skeletal abnormalities (including brachycephaly, scoliosis, slender long bones, delayed bone age, pectus excavatum and osteopenia), inverted nipples and dysmorphic features including high and narrow forehead, frontal bossing, short nose, depressed nasal bridge, anteverted nares, high palate and wide open mouth consistent with facial hypotonia. Other features may include cardiac abnormalities (such as patent ductus arteriosus, atrial septal defects), urogenital abnormalities (such as nephrocalcinosis, urolithiasis), and low plasma concentration of alkaline phosphatase." }, { "id": "MONDO:0014165", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014165", "name": "LFSS", "description": "" }, { "id": "MONDO:0014165", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014165", "name": "MCAHS type 3", "description": "" }, { "id": "MONDO:0014165", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014165", "name": "PIGT multiple congenital anomalies/dysmorphic syndrome-intellectual disability", "description": "" }, { "id": "MONDO:0014165", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014165", "name": "PIGT-CDG", "description": "" }, { "id": "MONDO:0014165", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014165", "name": "congenital disorder of glycosylation due to PIGT deficiency", "description": "" }, { "id": "MONDO:0014165", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014165", "name": "light fixation seizure syndrome", "description": "" }, { "id": "MONDO:0014165", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014165", "name": "multiple congenital anomalies-hypotonia-seizures syndrome 3", "description": "" }, { "id": "MONDO:0014165", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014165", "name": "multiple congenital anomalies-hypotonia-seizures syndrome type 3", "description": "" }, { "id": "MONDO:0014165", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014165", "name": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability caused by mutation in PIGT", "description": "" }, { "id": "MONDO:0014165", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014165", "name": "M syndrome", "description": "" }, { "id": "MONDO:0014165", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014165", "name": "MCAHS3", "description": "" }, { "id": "MONDO:0014165", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014165", "name": "glycosylphosphatidylinositol biosynthesis defect 7", "description": "" }, { "id": "MONDO:0014165", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014165", "name": "intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome", "description": "" }, { "id": "MIM:615398", "resource": "MIM", "url": "https://www.omim.org/entry/615398", "name": "Multiple congenital anomalies-hypotonia-seizures syndrome 3", "description": "Multiple congenital anomalies-hypotonia-seizures syndrome 3" } ], "evidence": [ { "id": "0014165", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014165" }, { "id": "615398", "database": "MIM", "url": "https://www.omim.org/entry/615398" }, { "id": "PIGT", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/PIGT/#!details" } ] } ], "snv": [ { "evidence": [ { "id": "rs754691323", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754691323" }, { "id": "rs754691323", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754691323" }, { "id": "rs754691323", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs754691323" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 146, "end_pos": 146, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DST->NST).", "chr_id": "20", "chr_pos": "45418922", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D146", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1600809309", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1600809309" }, { "id": "rs1600809309", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1600809309" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 166, "end_pos": 166, "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NDT->NDP).", "chr_id": "20", "chr_pos": "45419546", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T166", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs768114938", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768114938" }, { "id": "rs768114938", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768114938" }, { "id": "rs768114938", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs768114938#frequency_tab" }, { "id": "rs768114938", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768114938" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 257, "end_pos": 257, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DWS->NWS).", "chr_id": "20", "chr_pos": "45420223", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D257", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1005605617", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1005605617" }, { "id": "rs1005605617", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1005605617#frequency_tab" }, { "id": "rs1005605617", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1005605617" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 267, "end_pos": 267, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (TLT->NLT).", "chr_id": "20", "chr_pos": "45420565", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T267", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1377428697", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1377428697" }, { "id": "rs1377428697", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1377428697#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 276, "end_pos": 276, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SES->NES).", "chr_id": "20", "chr_pos": "45421455", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S276", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs758163445", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758163445" }, { "id": "rs758163445", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758163445" }, { "id": "rs758163445", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs758163445" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 291, "end_pos": 291, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NET->SET).", "chr_id": "20", "chr_pos": "45420643", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N291", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1158318050", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1158318050" }, { "id": "rs1158318050", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1158318050#frequency_tab" } ], 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"resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", 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"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, 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"https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q969N2" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { 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"A0A1W2PRL6-1", "url": "https://www.uniprot.org/uniprot/A0A1W2PRL6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1W2PRV7", "url": "https://www.uniprot.org/uniprot/A0A1W2PRV7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1W2PRV7-1", "url": "https://www.uniprot.org/uniprot/A0A1W2PRV7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1W2PRZ8", "url": "https://www.uniprot.org/uniprot/A0A1W2PRZ8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1W2PRZ8-1", "url": "https://www.uniprot.org/uniprot/A0A1W2PRZ8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1W2PSC5", "url": "https://www.uniprot.org/uniprot/A0A1W2PSC5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1W2PSC5-1", "url": "https://www.uniprot.org/uniprot/A0A1W2PSC5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "B7Z7C5", "url": "https://www.uniprot.org/uniprot/B7Z7C5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "B7Z7C5-1", "url": "https://www.uniprot.org/uniprot/B7Z7C5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7C2Y2", "url": "https://www.uniprot.org/uniprot/H7C2Y2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7C2Y2-1", "url": "https://www.uniprot.org/uniprot/H7C2Y2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q969N2", "url": "https://www.uniprot.org/uniprot/Q969N2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q969N2-1", "url": "https://www.uniprot.org/uniprot/Q969N2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q969N2-2", "url": "https://www.uniprot.org/uniprot/Q969N2-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q969N2-3", "url": "https://www.uniprot.org/uniprot/Q969N2-3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q969N2-4", "url": "https://www.uniprot.org/uniprot/Q969N2-4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q969N2-5", "url": "https://www.uniprot.org/uniprot/Q969N2-5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q969N2-6", "url": "https://www.uniprot.org/uniprot/Q969N2-6", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MAAAMPLALLVLLLLGPGGWCLAEPPRDSLREELVITPLPSGDVAATFQFRTRWDSELQREGVSHYRLFPKALGQLISKYSLRELHLSFTQGFWRTRYWGPPFLQAPSGAELWVWFQDTVTDVDKSWKELSNVLSGIFCASLNFIDSTNTVTPTASFKPLGLANDTDHYFLRYAVLPREVVCTENLTPWKKLLPCSSKAGLSVLLKADRLFHTSYHSQAVHIRPVCRNARCTSISWELRQTLSVVFDAFITGQGKKDWSLFRMFSRTLTEPCPLASESRVYVDITTYNQDNETLEVHPPPTTTYQDVILGTRKTYAIYDLLDTAMINNSRNLNIQLKWKRPPENEAPPVPFLHAQRYVSGYGLQKGELSTLLYNTHPYRAFPVLLLDTVPWYLRLYVHTLTITSKGKENKPSYIHYQPAQDRLQPHLLEMLIQLPANSVTKVSIQFERALLKWTEYTPDPNHGFYVSPSVLSALVPSMVAAKPVDWEESPLFNSLFPVSDGSNYFVRLYTEPLLVNLPTPDFSMPYNVICLTCTVVAVCYGSFYNLLTRTFHIEEPRTGGLAKRLANLIRRARGVPPL", "length": 578, "header": "sp|Q969N2-1|PIGT_HUMAN Isoform 1 of GPI transamidase component PIG-T OS=Homo sapiens OX=9606 GN=PIGT PE=1 SV=1 CANONICAL=Q969N2-1" }, "isoforms": [ { "isoform_ac": "A0A1W2PNP0-1", "url": "", "sequence": { "sequence": "LALLVLLLLGPGGWCLAEPPRDSLREELVITPLPSGDVAATFQFRTRWDSELQREGVSHYRLFPKALGQLISKYSLRELHLSFTQGFWRTRYWGPPFLQAPSGAELWVWFQDTVTEREGSPTPSWDCPDCGARGGVGSRRVIPISGMWIPRGQSPRPTPDRPLSPSDTDHYFLRYAVLPREVVCTENLTPWKKLLPCSSKAGLSVLLKADRLFHTSYHSQAVHIRPVCRNARCTSISWELRQTLSVVFDAFITGQGKKDWSLFRMFSRTLTEPCPLASESRVYVDITTYNQDNETLEVHPPPTTTYQDVILGTRKTYAIYDLLDTAMINNSRNLNIQLKWKRPPENEAPPVPFLHAQRYVSGYGLQKGELSTLLYNTHPYRAFPVLLLDTVPWYLRLYVHTLTITSKGKENKPSYIHYQPAQDRLQPHLLEMLIQLPANSVTKVSIQFERALLKWTEYTPDPNHGFYVSPSVLSALVPSMVAAKPVDWEESPLFNSLFPVSDGSNYFVRLYTEPLLVNLPTPDFSMPYNVICLTCTVVAVCYGSFYNLLTRTFHIEEPRTGGLAKRLANLIRRARGVPPL", "length": 580, "header": "tr|A0A1W2PNP0-1|PIGT_HUMAN Computationally mapped isoform of GPI transamidase component PIG-T OS=Homo sapiens OX=9606 GN=PIGT PE=1 SV=1 CANONICAL=Q969N2-1" }, "locus": { "chromosome": "20", "start_pos": 45425823, "end_pos": 45416175, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000640324.1", "url": "https://www.ensembl.org/id/ENST00000640324.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000491074.1", "url": "https://www.ensembl.org/id/ENSP00000491074.1" } ] } }, { "isoform_ac": "A0A1W2PNS2-1", "url": "", "sequence": { "sequence": "MAAAMPLALLVLLLLGPGGWCLAEPPRDSLREELVITPLPSGDVAATFQFRTRWDSELQREGVSHYRLFPKALGQLISKYSLRELHLSFTQGFWRTRYWGPPFLQAPSGAELWVWFQDTVTELVPLPDVLPNPHGALPPGFREPSLCGHHHLQPGQRDIRGAPTPDHYISGRHPRHSEDLCHL", "length": 183, "header": "tr|A0A1W2PNS2-1|PIGT_HUMAN Computationally mapped isoform of GPI transamidase component PIG-T OS=Homo sapiens OX=9606 GN=PIGT PE=1 SV=1 CANONICAL=Q969N2-1" }, "locus": { "chromosome": "20", "start_pos": 45420613, "end_pos": 45416157, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000639417.1", "url": "https://www.ensembl.org/id/ENST00000639417.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000491058.1", "url": "https://www.ensembl.org/id/ENSP00000491058.1" } ] } }, { "isoform_ac": "A0A1W2PNW9-1", "url": "", "sequence": { "sequence": "MAAAMPLALLVLLLLGPGGWCLAEPPRDSLREELVITPLPSGDVAATFQFRTRWDSELQREGVSHYRLFPKALGQLISKYSLRELHLSFTQGFWRTRYWGPPFLQAPSGAELWVWFQDTVTDVDKSWKELSNVLSGIFCASLNFIDSTNTVTPTASFKPLGLANDTDHYFLRYAVLPREVVCTENLTPWKKLLPCSSKAGLSVLLKADRLFHTSYHSQAVHIRPVCRHLLGAEADPVSCI", "length": 240, "header": "tr|A0A1W2PNW9-1|A0A1W2PNW9_HUMAN Computationally mapped isoform of Phosphatidylinositol glycan anchor biosynthesis class T OS=Homo sapiens OX=9606 GN=PIGT PE=1 SV=1 CANONICAL=Q969N2-1" }, "locus": { "chromosome": "20", "start_pos": 45420191, "end_pos": 45416157, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000640107.1", "url": "https://www.ensembl.org/id/ENST00000640107.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000491118.1", "url": "https://www.ensembl.org/id/ENSP00000491118.1" } ] } }, { "isoform_ac": "A0A1W2PNZ5-1", "url": "", "sequence": { "sequence": "MAAAMPLALLVLLLLGPGGWCLAEPPRDSLREELVITPLPSGDVAATFQFRTRWDSELQREGVSHYRLFPKALGQLISKYSLRELHLSFTQGFWRTRYWGPPFLQAPSGAELWVWFQDTVTEFSSQLWTLKEGAEVAPGQ", "length": 140, "header": "tr|A0A1W2PNZ5-1|PIGT_HUMAN Computationally mapped isoform of GPI transamidase component PIG-T OS=Homo sapiens OX=9606 GN=PIGT PE=1 SV=1 CANONICAL=Q969N2-1" }, "locus": { "chromosome": "20", "start_pos": 45418826, "end_pos": 45416157, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000638938.1", "url": "https://www.ensembl.org/id/ENST00000638938.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000491171.1", "url": "https://www.ensembl.org/id/ENSP00000491171.1" } ] } }, { "isoform_ac": "A0A1W2PP03-1", "url": "", "sequence": { "sequence": "MAAAMPLALLVLLLLGPGGWCLAEPPRDSLREELVITPLPSGDVAATFQFRTRWDSELQREGVSHYRLFPKALGQLISKYSLRELHLSFTQGFWRTRYWGPPFLQAPSGAELWVWFQDTVTEQASLCC", "length": 128, "header": "tr|A0A1W2PP03-1|PIGT_HUMAN Computationally mapped isoform of GPI transamidase component PIG-T OS=Homo sapiens OX=9606 GN=PIGT PE=1 SV=1 CANONICAL=Q969N2-1" }, "locus": { "chromosome": "20", "start_pos": 45419522, "end_pos": 45416157, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000638714.1", "url": "https://www.ensembl.org/id/ENST00000638714.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000491194.1", "url": "https://www.ensembl.org/id/ENSP00000491194.1" } ] } }, { "isoform_ac": "A0A1W2PP13-1", "url": "", "sequence": { "sequence": "MAAAMPLALLVLLLLGPGGWCLAEPPRDSLREELVITPLPSGDVAATFQFRTRWDSELQREGVSHYRLFPKALGQLISKYSLRELHLSFTQGFWRTRYWGPPFLQAPSGAELWVWFQDTVTDVDKSWKELSNVLSGIFCASLNFIDSTNTVTPTASFKPLGLANGLSVLLKADRLFHTSYHSQAVHIRPVCRNARCTSISWELRQTLSVVFDAFITGQGKKDWSLFRMFSRTLTEPCPLASESRVYVDITTYNQDNETLEVHPPPTTTYQDVILGTRKTYAIYDLLDTAMINNSRNLNIQLKWKRPPENEAPPVPFLHAQRYVSGYGLQKGELSTLLYNTHPYRAFPVLLLDTV", "length": 354, "header": "tr|A0A1W2PP13-1|PIGT_HUMAN Computationally mapped isoform of GPI transamidase component PIG-T OS=Homo sapiens OX=9606 GN=PIGT PE=1 SV=1 CANONICAL=Q969N2-1" }, "locus": { "chromosome": "20", "start_pos": 45421516, "end_pos": 45416157, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000638478.1", "url": "https://www.ensembl.org/id/ENST00000638478.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000491233.1", "url": "https://www.ensembl.org/id/ENSP00000491233.1" } ] } }, { "isoform_ac": "A0A1W2PP53-1", "url": "", "sequence": { "sequence": "MAAAMPLALLVLLLLGPGGWCLAEPPRDSLREELVITPLPSGDVAATFQFRTRWDSELQREGGLSVLLKADRLFHTSYHSQAVHIRPVCRNARCTSISWELRQTLSVVFDAFITGQGKKDWSLFRMFSRTLTEPCPLASESRVYVDITTYNQDNETLEVHPPPTTTYQDVILGTRKTYAIYDLLDTAMINNSRNLNIQLKWKRPPENEAPPVPFLHAQRYVSGYGLQKGELSTLLYNTHPYRAFPVLLLDTVPWYLRLYVHTLTITSKGKENKPSYIHYQPAQDRLQPHLLEMLIQLPANSVTKVSIQFERALLKWTEYTPDPNHGFYVSPSVLSALVPSMVAAKPVDWEESPLFNSLFPVSDGSNYFVRLYTEPLLVNLPTPDFSMPYNVICLTCTVVAVCYGSFYNLLTRTFHIEEPRTGGLAKRLANLIRRARGVPPL", "length": 441, "header": "tr|A0A1W2PP53-1|PIGT_HUMAN Computationally mapped isoform of GPI transamidase component PIG-T OS=Homo sapiens OX=9606 GN=PIGT PE=1 SV=1 CANONICAL=Q969N2-1" }, "locus": { "chromosome": "20", "start_pos": 45425823, "end_pos": 45416157, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000640210.1", "url": "https://www.ensembl.org/id/ENST00000640210.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000491164.1", "url": "https://www.ensembl.org/id/ENSP00000491164.1" } ] } }, { "isoform_ac": "A0A1W2PP57-1", "url": "", "sequence": { "sequence": "MAAAMPLALLVLLLLGPGGWCLAEPPRDSLREELVITPLPSGDVAATFQFRTRWDSELQREGVSHYRLFPKALGQLISKYSLRELHLSFTQGFWRTRYWGPPFLQAPSGAELWVWFQDTVTDVDKSWKELSNVLSGIFCASLNFIDSTNTVTPTASFKPLGLANDTDHYFLRYAVLPREVVCTENLTPWKKLLPCSSKAGLSVLLKADRLFHTSYHSQAVHIRPVCRNARCTSISWELRQTLSVVFDAFITGQGKKDWSLFRMFSRTLTEPCPLASESRVYVDITTYNQDNETLEVHPPPTTTYQDVILGTRKTYAIYDLLDTAMINNSRNLNIQLKWKRPPENEAPPVPFLHAQRYVSGYGLQKGELSTLLYNTHPYRAFPVLLLDTVPWYLRLYVHTLTITSKGKENKPSYIHYQPAQDRLQPHLLEMLIQLPANSVTKVSIQFERALLKWTEYTPDPNHGFYVSPSVLSALVPSMVAAKPVDWEESPLFNSL", "length": 495, "header": "tr|A0A1W2PP57-1|PIGT_HUMAN Computationally mapped isoform of GPI transamidase component PIG-T OS=Homo sapiens OX=9606 GN=PIGT PE=1 SV=1 CANONICAL=Q969N2-1" }, "locus": { "chromosome": "20", "start_pos": 45424580, "end_pos": 45416157, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000639499.1", "url": "https://www.ensembl.org/id/ENST00000639499.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000491170.1", "url": "https://www.ensembl.org/id/ENSP00000491170.1" } ] } }, { "isoform_ac": "A0A1W2PP91-1", "url": "", "sequence": { "sequence": "SHYRLFPKALGQLISKYSLRELHLSFTQGFWRTRYWGPPFLQAPSGAELWVWFQDTVTEFSSQLWTLKEGAEVAPGQ", "length": 77, "header": "tr|A0A1W2PP91-1|PIGT_HUMAN Computationally mapped isoform of GPI transamidase component PIG-T OS=Homo sapiens OX=9606 GN=PIGT PE=1 SV=1 CANONICAL=Q969N2-1" }, "locus": { "chromosome": "20", "start_pos": 45418826, "end_pos": 45416519, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000638710.1", "url": "https://www.ensembl.org/id/ENST00000638710.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000491406.1", "url": "https://www.ensembl.org/id/ENSP00000491406.1" } ] } }, { "isoform_ac": "A0A1W2PP98-1", "url": "", "sequence": { "sequence": "MAAAMPLALLVLLLLGPGGWCLAEPPRDSLREELVITPLPSGDVAATFQFRTRWDSELQREGVSHYRLFPKALGQLISKYSLRELHLSFTQGFWRTRYWGPPFLQAPSVWINLGRSSVMSSQGSSAPLSTSSTPPTQSLPLPPSNPWVWPMTLTTTFCAMLCCRGRWSAPKTSPPGRSSCPVVPRQASLCC", "length": 191, "header": "tr|A0A1W2PP98-1|PIGT_HUMAN Computationally mapped isoform of GPI transamidase component PIG-T OS=Homo sapiens OX=9606 GN=PIGT PE=1 SV=1 CANONICAL=Q969N2-1" }, "locus": { "chromosome": "20", "start_pos": 45419522, "end_pos": 45416157, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000638445.1", "url": "https://www.ensembl.org/id/ENST00000638445.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000491297.1", "url": "https://www.ensembl.org/id/ENSP00000491297.1" } ] } }, { "isoform_ac": "A0A1W2PPC3-1", "url": "", "sequence": { "sequence": "MAAAMPLALLVLLLLGPGGWCLAEPPRDSLREELVITPLPSGDVAATFQFRTRWDSELQREGVSHYRLFPKALGQLISKYSLRELHLSFTQGFWRTRYWGPPFLQAPSGAELWVWFQDTVTDVDKSWKELSNVLSGIFCASLNFIDSTNTVTPTASFKPLGLANDTDHYFLRYAVLPREVVCTENLTPWKKLLPCSSKAGLSVLLKADRLFHTSYHSQAVHIRPVCRNARCTSISWELRQTLSVVFDAFITGQGKKDWSLFRMFSRTLTEPCPLASESRVYVDITTYNQDNETLEVHPPPTTTYQDVILGTRKTYAIYDLLDTAMINNSRNLNIQLKWKRPPENEAPPVPFLHAQRYVSGYGLQKGELSTLLYNTHPYRAFPVLLLDTVPWYLRLYVHTLTITSKGKENKPSYIHYQPAQDRLQPHLLEMLIQLPANSVTKVSIQFERALLKWTEYTPDPNHGFYVSPSVLSALVPSMVAAKPVDWEESPLFNSLLPWT", "length": 499, "header": "tr|A0A1W2PPC3-1|PIGT_HUMAN Computationally mapped isoform of GPI transamidase component PIG-T OS=Homo sapiens OX=9606 GN=PIGT PE=1 SV=1 CANONICAL=Q969N2-1" }, "locus": { "chromosome": "20", "start_pos": 45427434, "end_pos": 45416157, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000638612.1", "url": "https://www.ensembl.org/id/ENST00000638612.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000491458.1", "url": "https://www.ensembl.org/id/ENSP00000491458.1" } ] } }, { "isoform_ac": "A0A1W2PPI8-1", "url": "", "sequence": { "sequence": "MAAAMPLALLVLLLLGPGGWCLAEPPRDSLREELVITPLPSGDVAATFQFRTRWDSELQREGVSHYRLFPKALGQLISKYSLRELHLSFTQGFWRTRYWGPPFLQAPSGAELVDKSWKELSNVLSGIFCASLNFIDSTNTVTPTASFKPLGLANDTDHYFLRYAVLPREVVCTENLTPWKKLLPCSSKAGLSVLLKADRLFHTSYHSQAVHIRPVCRNARCTSISWELRQTLSVVFDAFITGQGKKDWSLFRMFSRTLTEPCPLASESRVYVDITTYNQDNETLEVHPPPTTTYQDVILGTRKTYAIYDLLDTA", "length": 314, "header": "tr|A0A1W2PPI8-1|PIGT_HUMAN Computationally mapped isoform of GPI transamidase component PIG-T OS=Homo sapiens OX=9606 GN=PIGT PE=1 SV=1 CANONICAL=Q969N2-1" }, "locus": { "chromosome": "20", "start_pos": 45420632, "end_pos": 45416157, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000638489.1", "url": "https://www.ensembl.org/id/ENST00000638489.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000491566.1", "url": "https://www.ensembl.org/id/ENSP00000491566.1" } ] } }, { "isoform_ac": "A0A1W2PPK4-1", "url": "", "sequence": { "sequence": "XYVSGYGLQKGELSTLLYNTHPYRAFPVLLLDTVPWYLRLYVHTLTITSKGKENKPSYIHYQPAQDRLQPHLLEMLIQLPANSVTKVSIQFERALLKWTEYTPDPNHGFYVSPSVLSALVPSMVAAKPVDWEESPLFNSLLPWT", "length": 144, "header": "tr|A0A1W2PPK4-1|PIGT_HUMAN Computationally mapped isoform of GPI transamidase component PIG-T OS=Homo sapiens OX=9606 GN=PIGT PE=1 SV=1 CANONICAL=Q969N2-1" }, "locus": { "chromosome": "20", "start_pos": 45427435, "end_pos": 45421416, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000638277.1", "url": "https://www.ensembl.org/id/ENST00000638277.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000491588.1", "url": "https://www.ensembl.org/id/ENSP00000491588.1" } ] } }, { "isoform_ac": "A0A1W2PPQ7-1", "url": "", "sequence": { "sequence": "MAAAMPLALLVLLLLGPGGWCLAEPPRDSLREELVITPLPSGDVAATFQFRTRWDSELQREGVSHYRLFPKALGQLISKYSLRELHLSFTQGFWRTRYWGPPFLQAPSVWINLGRSSVMSSQGSSAPLSTSSTPPTQSLPLPPSNPWVWPMAGLSVLLKADRLFHTSYHSQAVHIRPVCRNARCTSISWELRQTLSVVFDAFITGQGKKDWSLFRMFSRTLTEPCPLASESRVYVDITTYNQDNETLEVHPPPTTTYQDVILGTRKTYAIYDLLDTAMINNSRNLNIQLKWKRPPENEAPPVPFLHAQRYVSGYGLQKGELSTLLYNTHPYRAFPVLLLDTVPWYLRLYVHTLTITSKGKENKPSYIHYQPAQDRLQPHLLEMLIQLPANSVT", "length": 393, "header": "tr|A0A1W2PPQ7-1|PIGT_HUMAN Computationally mapped isoform of GPI transamidase component PIG-T OS=Homo sapiens OX=9606 GN=PIGT PE=1 SV=1 CANONICAL=Q969N2-1" }, "locus": { "chromosome": "20", "start_pos": 45424301, "end_pos": 45416157, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000639382.1", "url": "https://www.ensembl.org/id/ENST00000639382.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000491534.1", "url": "https://www.ensembl.org/id/ENSP00000491534.1" } ] } }, { "isoform_ac": "A0A1W2PPR6-1", "url": "", "sequence": { "sequence": "MAAAMPLALLVLLLLGPGGWCLAEPPRDSLREELVITPLPSGDVAATFQFRTRWDSELQREGVSHYRLFPKALGQLISKYSLRELHLSFTQGFWRTRYWGPPFLQAPSGAELWVWFQDTVTDVDKSWKELSNVLSGIFCASLNFIDSTNTVTPTASFKPLGLANDTDHYFLRYAVLPREVVCTENLTPWKKLLPCSSKAGLSVLLKADRLFHTSYHSQAVHIRPVCRNARCTSISWELRQTLSVVFDAFITGQGKKDWSLFRMFSRTLTEPCPLASESRVYVDITTYNQDNETLEVHPPPTTTYQDVILGTRKTYAIYDLLDTAMINNSRNLNIQLKWKRPPENEAPPVPFLHAQRYVSGYGLQKGELSTLLYNTHPYRAFPVLLLDTVPWYLRLYVHTLTITSKGKENKPSEDLSPEPGPQPALSCPLQVPQTLISQGYIHYQPAQDRLQPHLLEMLIQLPANSVTKVSIQFERALLKWTEYTPDPNHGFYVSPSVLSALVPSMVAAKPVDWEESPLFNSLFPVSDGSNYFVRLYTEPLLVNLPTPDFSMPYNVICLTCTVVAVCYGSFYNLLTRTFHIEEPRTGGLAKRLANLIRRARGVPPL", "length": 605, "header": "tr|A0A1W2PPR6-1|PIGT_HUMAN Computationally mapped isoform of GPI transamidase component PIG-T OS=Homo sapiens OX=9606 GN=PIGT PE=1 SV=2 CANONICAL=Q969N2-1" }, "locus": { "chromosome": "20", "start_pos": 45425823, "end_pos": 45416157, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000639292.2", "url": "https://www.ensembl.org/id/ENST00000639292.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000491678.2", "url": "https://www.ensembl.org/id/ENSP00000491678.2" } ] } }, { "isoform_ac": "A0A1W2PPS0-1", "url": "", "sequence": { "sequence": "MAAAMPLALLVLLLLGPGGWCLAEPPRDSLREELVITPLPSGDVAATFQFRTRWDSELQREGVSHYRLFPKALGQLISKYSLRELHLSFTQGFWRTRYWGPPFLQAPSGAELWVWFQDTVTDVDKSWKELSNVLSGIFCASLNFIDSTNTVTPTASFKPLGLANDTDHYFLRYAVLPREVVCTENLTPWKKLLPCSSKAGLSVLLKADRLFHTSYHSQAVHIRPVCRNARCTSISWELRQTLSVVFDAFITGQGKKDWSLFRMFSRTLTEPCPLASESRVYVDITTYNQDNETLEVHPPPTTTYQDVILGTRKTYAIYDLLDTAMINNSRNLNIQLKWKRPPENEAPPVPFLHAQRYVSGYGLQKGELSTLLYNTHPYRAFPVLLLDTVPWYLRLYVHTLTITSKGKENKPSYIHYQPAQDRLQPHLLEMLIQLPANSVTKVSIQFERALLKWTEYTPDPNHGFYVSPSVLSALVPSMVAAKPVDWEESPLFNSLEPVTCAALRC", "length": 505, "header": "tr|A0A1W2PPS0-1|PIGT_HUMAN Computationally mapped isoform of GPI transamidase component PIG-T OS=Homo sapiens OX=9606 GN=PIGT PE=1 SV=1 CANONICAL=Q969N2-1" }, "locus": { "chromosome": "20", "start_pos": 45448274, "end_pos": 45416157, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000638594.1", "url": "https://www.ensembl.org/id/ENST00000638594.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000491697.1", "url": "https://www.ensembl.org/id/ENSP00000491697.1" } ] } }, { "isoform_ac": "A0A1W2PPU8-1", "url": "", "sequence": { "sequence": "MAAAMPLALLVLLLLGPGGWCLAEPPRDSLREELVITPLPSGDVAATFQFRTRWDSELQREGVSHYRLFPKALGQLISKYSLRELHLSFTQGFWRTRYWGPPFLQAPSGAELWVWFQDTVTDVDKSWKELSNVLSGIFCASLNFIDSTNTVTPTASFKPLGLANDTDHYFLRYAVLPREVVCTENLTPWKKLLPCSSKGFSYLFPSPPGRPLCAAEGRSLVPHQLPLPGSAYPPCLQKCTLY", "length": 242, "header": "tr|A0A1W2PPU8-1|PIGT_HUMAN Computationally mapped isoform of GPI transamidase component PIG-T OS=Homo sapiens OX=9606 GN=PIGT PE=1 SV=1 CANONICAL=Q969N2-1" }, "locus": { "chromosome": "20", "start_pos": 45420149, "end_pos": 45416157, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000639932.1", "url": "https://www.ensembl.org/id/ENST00000639932.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000491600.1", "url": "https://www.ensembl.org/id/ENSP00000491600.1" } ] } }, { "isoform_ac": "A0A1W2PQ29-1", "url": "", "sequence": { "sequence": "MAAAMPLALLVLLLLGPGGWCLAEPPRDSLREELVITPLPSGDVAATFQFRTRWDSELQREGVSHYRLFPKALGQLISKYSLRELHLSFTQGFWRTRYWGPPFLQAPSGAELWVWFQDTVTDVDKSWKELSNVLSGIFCASLNFIDSTNTVTPTASFKPLGLANDTDHYFLRYAVLPREVVCTENLTPWKKLLPCSSKAGLSVLLKADRLFHTSYHSQAVHIRPVCRNARCTSISWELRQTLSVVFDAFITGQGKKDWSLFRMFSRTLTEPCPLASESRVYVDITTYNQPCLCVPRTTRH", "length": 300, "header": "tr|A0A1W2PQ29-1|PIGT_HUMAN Computationally mapped isoform of GPI transamidase component PIG-T OS=Homo sapiens OX=9606 GN=PIGT PE=1 SV=1 CANONICAL=Q969N2-1" }, "locus": { "chromosome": "20", "start_pos": 45420540, "end_pos": 45416157, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000640986.1", "url": "https://www.ensembl.org/id/ENST00000640986.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000491886.1", "url": "https://www.ensembl.org/id/ENSP00000491886.1" } ] } }, { "isoform_ac": "A0A1W2PQ50-1", "url": "", "sequence": { "sequence": "XWVWFQDTVTEH", "length": 12, "header": "tr|A0A1W2PQ50-1|PIGT_HUMAN Computationally mapped isoform of GPI transamidase component PIG-T OS=Homo sapiens OX=9606 GN=PIGT PE=1 SV=1 CANONICAL=Q969N2-1" }, "locus": { "chromosome": "20", "start_pos": 45419300, "end_pos": 45416665, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000638415.1", "url": "https://www.ensembl.org/id/ENST00000638415.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000491913.1", "url": "https://www.ensembl.org/id/ENSP00000491913.1" } ] } }, { "isoform_ac": "A0A1W2PQ52-1", "url": "", "sequence": { "sequence": "MAAAMPLALLVLLLLGPGGWCLAEPPRDSLREELVITPLPSGDVAATFQFRTRWDSELQREGVWINLGRSSVMSSQGSSAPLSTSSTPPTQSLPLPPSNPWVWPMAGLSVLLKADRLFHTSYHSQAVHIRPVCRNARCTSISWELRQTLSVVFDAFITGQGKKDWSLFRMFSRTLTEPCPLASESRVYVDITTYNQDNETLEVHPPPTTTYQDVILGTRKTYAIYDLLDTAMINNSRNLNIQLKWKRPPENEAPPVPFLHAQRYVSGYGLQKGELSTLLYNTHPYRAFPVLLLDTVPWYLRLYVHTLTITSKGKENKP", "length": 318, "header": "tr|A0A1W2PQ52-1|PIGT_HUMAN Computationally mapped isoform of GPI transamidase component PIG-T OS=Homo sapiens OX=9606 GN=PIGT PE=1 SV=1 CANONICAL=Q969N2-1" }, "locus": { "chromosome": "20", "start_pos": 45421582, "end_pos": 45416157, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000638353.1", "url": "https://www.ensembl.org/id/ENST00000638353.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000491538.1", "url": "https://www.ensembl.org/id/ENSP00000491538.1" } ] } }, { "isoform_ac": "A0A1W2PQI9-1", "url": "", "sequence": { "sequence": "MAAAMPLALLVLLLLGPGGWCLAEPPRDSLREELVITPLPSGDVAATFQFRTRWDSELQREGVWINLGRSSVMSSQGSSAPLSTSSTPPTQSLPLPPSNPWVWPMTLTTTFCAMLCCRGRWSAPKTSPPGRSSCPVVPRQASLCC", "length": 145, "header": "tr|A0A1W2PQI9-1|PIGT_HUMAN Computationally mapped isoform of GPI transamidase component PIG-T OS=Homo sapiens OX=9606 GN=PIGT PE=1 SV=1 CANONICAL=Q969N2-1" }, "locus": { "chromosome": "20", "start_pos": 45419522, "end_pos": 45416157, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000638671.1", "url": "https://www.ensembl.org/id/ENST00000638671.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000492875.1", "url": "https://www.ensembl.org/id/ENSP00000492875.1" } ] } }, { "isoform_ac": "A0A1W2PQL3-1", "url": "", "sequence": { "sequence": "MAAAMPLALLVLLLLGPGGWCLAEPPRDSLREELVITPLPSGDVAATFQFRTRWDSELQREGVSHYRLFPKALGQLISKYSLRELHLSFTQGFWRTRYWGPPFLQAPSGAELWVWFQDTVTDVDKSWKELSNVLSGIFCASLNFIDSTNTVTPTASFKPLGLANGRPLCAAEGRSLVPHQLPLPGSAYPPCLQKCTLY", "length": 198, "header": "tr|A0A1W2PQL3-1|PIGT_HUMAN Computationally mapped isoform of GPI transamidase component PIG-T OS=Homo sapiens OX=9606 GN=PIGT PE=1 SV=1 CANONICAL=Q969N2-1" }, "locus": { "chromosome": "20", "start_pos": 45420149, "end_pos": 45416157, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000639783.1", "url": "https://www.ensembl.org/id/ENST00000639783.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000491772.1", "url": "https://www.ensembl.org/id/ENSP00000491772.1" } ] } }, { "isoform_ac": "A0A1W2PQL9-1", "url": "", "sequence": { "sequence": "RWDSELQREGGLAASCGL", "length": 18, "header": "tr|A0A1W2PQL9-1|PIGT_HUMAN Computationally mapped isoform of GPI transamidase component PIG-T OS=Homo sapiens OX=9606 GN=PIGT PE=1 SV=1 CANONICAL=Q969N2-1" }, "locus": { "chromosome": "20", "start_pos": 45418794, "end_pos": 45416313, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000639194.1", "url": "https://www.ensembl.org/id/ENST00000639194.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000492210.1", "url": "https://www.ensembl.org/id/ENSP00000492210.1" } ] } }, { "isoform_ac": "A0A1W2PQY1-1", "url": "", "sequence": { "sequence": "YNQDNETLEVHPPPTTTYQDVILGTRKTYAIYDLLDTAMINNSRNLNIQLKWKRPPENEAPPVPFLHAQRYVSGYGLQKGELSTLLYNTHPYRAFPVLLLDTVPWYLRLYVHTLTITSKGKENKPSYIHYQPAQDRLQPHLLEMLIQLPANSVTKVSIQFERALLKWTEYTPDPNHGFYVSPSVLSALVPSMVAAKPVDWEESPLFNSLLPWT", "length": 213, "header": "tr|A0A1W2PQY1-1|PIGT_HUMAN Computationally mapped isoform of GPI transamidase component PIG-T OS=Homo sapiens OX=9606 GN=PIGT PE=1 SV=1 CANONICAL=Q969N2-1" }, "locus": { "chromosome": "20", "start_pos": 45427434, "end_pos": 45420421, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000638927.1", "url": "https://www.ensembl.org/id/ENST00000638927.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000492335.1", "url": "https://www.ensembl.org/id/ENSP00000492335.1" } ] } }, { "isoform_ac": "A0A1W2PR22-1", "url": "", "sequence": { "sequence": "MAAAMPLALLVLLLLGPGGWCLAEPPRDSLREELVITPLPSGDVAATFQFRTRWDSELQREGVSHYRLFPKALGQLISKYSLRELHLSFTQGFWRTRYWGPPFLQAPSGLAASCGL", "length": 116, "header": "tr|A0A1W2PR22-1|PIGT_HUMAN Computationally mapped isoform of GPI transamidase component PIG-T OS=Homo sapiens OX=9606 GN=PIGT PE=1 SV=1 CANONICAL=Q969N2-1" }, "locus": { "chromosome": "20", "start_pos": 45418794, "end_pos": 45416157, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000640108.1", "url": "https://www.ensembl.org/id/ENST00000640108.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000492007.1", "url": "https://www.ensembl.org/id/ENSP00000492007.1" } ] } }, { "isoform_ac": "A0A1W2PR34-1", "url": "", "sequence": { "sequence": "XLIQLPANSVTKVSIQFERALLKWTEYTPDPNHGFYVRWEHGPSLCFSVAHLSSAPLCPAW", "length": 61, "header": "tr|A0A1W2PR34-1|PIGT_HUMAN Computationally mapped isoform of GPI transamidase component PIG-T OS=Homo sapiens OX=9606 GN=PIGT PE=1 SV=1 CANONICAL=Q969N2-1" }, "locus": { "chromosome": "20", "start_pos": 45424531, "end_pos": 45424270, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000640123.1", "url": "https://www.ensembl.org/id/ENST00000640123.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000492417.1", "url": "https://www.ensembl.org/id/ENSP00000492417.1" } ] } }, { "isoform_ac": "A0A1W2PR70-1", "url": "", "sequence": { "sequence": "MAAAMPLALLVLLLLGPGGWCLAEPPRDSLREELVITPLPSGDVAATFQFRTRWDSELQREGDTDHYFLRYAVLPREVVCTENLTPWKKLLPCSSKASLCC", "length": 101, "header": "tr|A0A1W2PR70-1|PIGT_HUMAN Computationally mapped isoform of GPI transamidase component PIG-T OS=Homo sapiens OX=9606 GN=PIGT PE=1 SV=1 CANONICAL=Q969N2-1" }, "locus": { "chromosome": "20", "start_pos": 45419522, "end_pos": 45416157, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000639286.1", "url": "https://www.ensembl.org/id/ENST00000639286.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000492507.1", "url": "https://www.ensembl.org/id/ENSP00000492507.1" } ] } }, { "isoform_ac": "A0A1W2PR73-1", "url": "", "sequence": { "sequence": "MAAAMPLALLVLLLLGPGGWCLAEPPRDSLREELVITPLPSGDVAATFQFRTRWDSELQREGVSHYRLFPKALGQLISKYSLRELHLSFTQGFWRTRYWGPPFLQAPSGAELWVWFQDTVTDVDKSWKELSNVLSGIFCASLNFIDSTNTVTPTASFKPLGLANDTDHYFLRYAVLPREVVCTENLTPWKKLLPCSSKAGLSVLLKADRLFHTSYHSQAVHIRPVCRNARCTSISWELRQTLSVVFDAFITGQGKKDWSLFRMFSRTLTEPCPLASESRVYVDITTYNQDNETLEVHPPPTTTYQDVILGTRKTYAIYDLLDTAMINNSRNLNIQLKWKRPPENEAPPVPFLHAQRYVSGYGLQKGELSTLLYNTHPYRAFPVLLLDTVPWYLRLYVHTLTITSKGKENKPSYIHYQPAQDRLQPHLLEMLIQLPANSVTKVSIQFERALLKWTEYTPDPNHGFYVRFPVSDGSNYFVRLYTEPLLVNLPTPDFSMPYNVICLTCTVVAVCYGSFYNLLTRTFHIEEPRTGGLAKRLANLIRRARGVPPL", "length": 550, "header": "tr|A0A1W2PR73-1|PIGT_HUMAN Computationally mapped isoform of GPI transamidase component PIG-T OS=Homo sapiens OX=9606 GN=PIGT PE=1 SV=2 CANONICAL=Q969N2-1" }, "locus": { "chromosome": "20", "start_pos": 45425823, "end_pos": 45416157, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000638691.2", "url": "https://www.ensembl.org/id/ENST00000638691.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000492094.2", "url": "https://www.ensembl.org/id/ENSP00000492094.2" } ] } }, { "isoform_ac": "A0A1W2PR92-1", "url": "", "sequence": { "sequence": "MAAAMPLALLVLLLLGPGGWCLAEPPRDSLREELVITPLPSGDVAATFQFRTRWDSELQREGVSHYRLFPKALGQLISKYSLRELHLSFTQGFWRTRYWGPPFLQAPSGAELWVWFQDTVTDVDKSWKELSNVLSGIFCASLNFIDSTNTVTPTASFKPLGLANDTDHYFLRYAVLPREVVCTENLTPWKKLLPCSSKAGLSVLLKADRLFHTSYHSQAVHIRPVCRNARCTSISWELRQTLSVVFDAFITGQGKKDWSLFRMFSRTLTEPCPLASESRVYVDITTYNQDNETLEVHPPPTTTYQDVILGTRKTYAIYDLLDTAMINNSRNLNIQLKWKRPPENGYIHYQPAQDRLQPHLLEMLIQLPANSVTKVSIQFERALLKWTEYTPDPNHGFYVSPSVLSALVPSMVAAKPVDWEESPLFNSLLPWT", "length": 432, "header": "tr|A0A1W2PR92-1|PIGT_HUMAN Computationally mapped isoform of GPI transamidase component PIG-T OS=Homo sapiens OX=9606 GN=PIGT PE=1 SV=1 CANONICAL=Q969N2-1" }, "locus": { "chromosome": "20", "start_pos": 45427434, "end_pos": 45416157, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000640542.1", "url": "https://www.ensembl.org/id/ENST00000640542.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000492174.1", "url": "https://www.ensembl.org/id/ENSP00000492174.1" } ] } }, { "isoform_ac": "A0A1W2PRB4-1", "url": "", "sequence": { "sequence": "MAAAMPLALLVLLLLGPGGWCLAEPPRDSLREELVITPLPSGDVAATFQFRTRWDSELQREGGRPLCAAEGRSLVPHQLPLPGSAYPPCLQKCTLY", "length": 96, "header": "tr|A0A1W2PRB4-1|PIGT_HUMAN Computationally mapped isoform of GPI transamidase component PIG-T OS=Homo sapiens OX=9606 GN=PIGT PE=1 SV=1 CANONICAL=Q969N2-1" }, "locus": { "chromosome": "20", "start_pos": 45420149, "end_pos": 45416157, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000640175.1", "url": "https://www.ensembl.org/id/ENST00000640175.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000492418.1", "url": "https://www.ensembl.org/id/ENSP00000492418.1" } ] } }, { "isoform_ac": "A0A1W2PRG1-1", "url": "", "sequence": { "sequence": "MAAAMPLALLVLLLLGPGGWCLAEPPRDSLREELVITPLPSGDVAATFQFRTRWDSELQREGVSHYRLFPKALGQLISKYSLRELHLSFTQGFWRTRYWGPPFLQAPSGAELWVWFQDTVTDVDKSWKELSNVLSGIFCASLNFIDSTNTVTPTASFKPLGLANDTDHYFLRYAVLPREVVCTENLTPWKKLLPCSSKAGLSVLLKADRLFHTSYHSQAVHIRPVCRVSHGE", "length": 232, "header": "tr|A0A1W2PRG1-1|PIGT_HUMAN Computationally mapped isoform of GPI transamidase component PIG-T OS=Homo sapiens OX=9606 GN=PIGT PE=1 SV=1 CANONICAL=Q969N2-1" }, "locus": { "chromosome": "20", "start_pos": 45419605, "end_pos": 45416157, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000638383.1", "url": "https://www.ensembl.org/id/ENST00000638383.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000492295.1", "url": "https://www.ensembl.org/id/ENSP00000492295.1" } ] } }, { "isoform_ac": "A0A1W2PRH2-1", "url": "", "sequence": { "sequence": "MAAAMPLALLVLLLLGPGGWCLAEPPRDSLREELVITPLPSGDVAATFQFRTRWDSELQREGVSHYRLFPKALGQLISKYSLRELHLSFTQGFWRTRYWGPPFLQAPSGAELWVWFQDTVTEPLSPSDTDHYFLRYAVLPREVVCTENLTPWKKLLPCSSKAGLSVLLKADRLFHTSYHSQAVHIRPVCRNARCTSISWELRQTLSVVFDAFITGQGKKDWSLFRMFSRTLTEPCPLASESRVYVDITTYNQDNETLEVHPPPTTTYQDVILGTRKTYAIYDLLDTAMINNSRNLNIQLKWKRPPENEAPPVPFLH", "length": 316, "header": "tr|A0A1W2PRH2-1|PIGT_HUMAN Computationally mapped isoform of GPI transamidase component PIG-T OS=Homo sapiens OX=9606 GN=PIGT PE=1 SV=1 CANONICAL=Q969N2-1" }, "locus": { "chromosome": "20", "start_pos": 45421408, "end_pos": 45416157, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000639235.1", "url": "https://www.ensembl.org/id/ENST00000639235.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000492498.1", "url": "https://www.ensembl.org/id/ENSP00000492498.1" } ] } }, { "isoform_ac": "A0A1W2PRH8-1", "url": "", "sequence": { "sequence": "MAAAMPLALLVLLLLGPGGWCLAEPPRDSLREELVITPLPSGDVAATFQFRTRWDSELQREGVSHYRLFPKALGQLISKYSLRELHLSFTQGFWRTRYWGPPFLQAPSGAELWVWFQDTVTDVDKSWKELSNVLSGIFCASLNFIDSTNTVTPTASFKPLGLANDTDHYFLRYAVLPREVVCTENLTPWKKLLPCSSKASLCC", "length": 203, "header": "tr|A0A1W2PRH8-1|PIGT_HUMAN Computationally mapped isoform of GPI transamidase component PIG-T OS=Homo sapiens OX=9606 GN=PIGT PE=1 SV=1 CANONICAL=Q969N2-1" }, "locus": { "chromosome": "20", "start_pos": 45419522, "end_pos": 45416157, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000640272.1", "url": "https://www.ensembl.org/id/ENST00000640272.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000492270.1", "url": "https://www.ensembl.org/id/ENSP00000492270.1" } ] } }, { "isoform_ac": "A0A1W2PRL6-1", "url": "", "sequence": { "sequence": "MAAAMPLALLVLLLLGPGGWCLAEPPRDSLREELVITPLPSGDVAATFQFRTRWDSELQREGVWINLGRSSVMSSQGSSAPLSTSSTPPTQSLPLPPSNPWVWPMTLTTTFCAMLCCRGRWSAPKTSPPGRSSCPVVPRPLCAAEGRSLVPHQLPLPGSAYPPCLQKCTLY", "length": 171, "header": "tr|A0A1W2PRL6-1|PIGT_HUMAN Computationally mapped isoform of GPI transamidase component PIG-T OS=Homo sapiens OX=9606 GN=PIGT PE=1 SV=1 CANONICAL=Q969N2-1" }, "locus": { "chromosome": "20", "start_pos": 45420149, "end_pos": 45416157, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000639984.1", "url": "https://www.ensembl.org/id/ENST00000639984.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000492727.1", "url": "https://www.ensembl.org/id/ENSP00000492727.1" } ] } }, { "isoform_ac": "A0A1W2PRV7-1", "url": "", "sequence": { "sequence": "MAAAMPLALLVLLLLGPGGWCLAEPPRDSLREELVITPLPSGDVAATFQFRTRWDSELQREGVSHYRLFPKALGQLISKYSLRELHLSFTQGFWRTRYWGPPFLQAPSGAELWVWFQDTVTDVDKSWKELSNVLSGIFCASLNFIDSTNTVTPTASFKPLGLANDTDHYFLRYAVLPREVVCTENLTPWKKLLPCSSKAGLSVLLKADRLFHTSYHSQAVHIRPVCRNARCTSISWELRQTLSVVFDAFITGQGKKALRSVSQTGPSSGCSPEPSRSPAPWLQRAESMWTSPPTTSPAFVSPGQRDIRGAPTPDHYISGRHPRHSEDLCHL", "length": 331, "header": "tr|A0A1W2PRV7-1|A0A1W2PRV7_HUMAN Computationally mapped isoform of Phosphatidylinositol glycan anchor biosynthesis class T OS=Homo sapiens OX=9606 GN=PIGT PE=1 SV=1 CANONICAL=Q969N2-1" }, "locus": { "chromosome": "20", "start_pos": 45420613, "end_pos": 45416157, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000638387.1", "url": "https://www.ensembl.org/id/ENST00000638387.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000492873.1", "url": "https://www.ensembl.org/id/ENSP00000492873.1" } ] } }, { "isoform_ac": "A0A1W2PRZ8-1", "url": "", "sequence": { "sequence": "MAAAMPLALLVLLLLGPGGWCLAEPPRDSLREELVITPLPSGDVAATFQFRTRWDSELQREGVSHYRLFPKALGQLISKYSLRELHLSFTQGFWRTRYWGPPFLQAPSGAELWVWFQDTVTDVDKSWKELSNVLSGIFCASLNFIDSTNTVTPTASFKPLGLANDTDHYFLRYAVLPREVVCTENLTPWKKLLPCSSKAGLSVLLKADRLFHTSYHSQAVHIRPVCRNARCTSISWELRQTLSVVFDAFITGQGKKDWSLFRMFSRTLTEPCPLASESRVYVDITTYNQDNETLEVHPPPTTTYQDVILGTRKTYAIYDLLDTAMINNSRNLNIQLKWKRPPENEAPPVPFLHAQRYVSGYGLQKGELSTLLYNTHPYRAFPVLLLDTVPWYLRLLHPLPACPGPAATPPPGDADSAAGQLSHQGFHPV", "length": 429, "header": "tr|A0A1W2PRZ8-1|PIGT_HUMAN Computationally mapped isoform of GPI transamidase component PIG-T OS=Homo sapiens OX=9606 GN=PIGT PE=1 SV=1 CANONICAL=Q969N2-1" }, "locus": { "chromosome": "20", "start_pos": 45424318, "end_pos": 45416157, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000638978.1", "url": "https://www.ensembl.org/id/ENST00000638978.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000492743.1", "url": "https://www.ensembl.org/id/ENSP00000492743.1" } ] } }, { "isoform_ac": "A0A1W2PSC5-1", "url": "", "sequence": { "sequence": "XYAIYDLLDTAMINNSRNLNIQLKWKRPPENEAPPVPFLHAQRYVSGYGLQKGELSTLLYNTHPYRAFPVLLLDTVPWYLRLYVHTLTITSKGKENKPSEDLSPEPGPQPALSCPLQVPQTLISQGSS", "length": 128, "header": "tr|A0A1W2PSC5-1|PIGT_HUMAN Computationally mapped isoform of GPI transamidase component PIG-T OS=Homo sapiens OX=9606 GN=PIGT PE=1 SV=1 CANONICAL=Q969N2-1" }, "locus": { "chromosome": "20", "start_pos": 45421673, "end_pos": 45420601, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000639239.1", "url": "https://www.ensembl.org/id/ENST00000639239.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000492843.1", "url": "https://www.ensembl.org/id/ENSP00000492843.1" } ] } }, { "isoform_ac": "B7Z7C5-1", "url": "", "sequence": { "sequence": "MAAAMPLALLVLLLLGPGGWCLAEPPRDSLREELVITPLPSGDVAATFQFRTRWDSELQREGVSHYRLFPKALGQLISKYSLRELHLSFTQGFWRTRYWGPPFLQAPSGAELWVWFQDTVTEH", "length": 123, "header": "tr|B7Z7C5-1|PIGT_HUMAN Computationally mapped isoform of GPI transamidase component PIG-T OS=Homo sapiens OX=9606 GN=PIGT PE=1 SV=1 CANONICAL=Q969N2-1" }, "locus": { "chromosome": "20", "start_pos": 45419298, "end_pos": 45416157, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000455050.2", "url": "https://www.ensembl.org/id/ENST00000455050.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000407574.2", "url": "https://www.ensembl.org/id/ENSP00000407574.2" } ] } }, { "isoform_ac": "H7C2Y2-1", "url": "", "sequence": { "sequence": "MAAAMPLALLVLLLLGPGGWCLAEPPRDSLREELVITPLPSGDVAATFQFRTRWDSELQREGDTDHYFLRYAVLPREVVCTENLTPWKKLLPCSSKAGLSVLLKADRLFHTSYHSQAVHIRPVCRNARCTSISWELRQTLSVVFDAFITGQGKKDWSLFRMFSRTLTEPCPLASESRVYVDITTYNQDNETLEVHPPPTTTYQDVILGTRKTYAIYDLLDTAMINNSRNLNIQLKWKRPPENGYIHYQPAQDRLQPHLLEMLIQLPANSVTKVSI", "length": 275, "header": "tr|H7C2Y2-1|PIGT_HUMAN Computationally mapped isoform of GPI transamidase component PIG-T OS=Homo sapiens OX=9606 GN=PIGT PE=1 SV=2 CANONICAL=Q969N2-1" }, "locus": { "chromosome": "20", "start_pos": 45424313, "end_pos": 45416157, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000432270.2", "url": "https://www.ensembl.org/id/ENST00000432270.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000408354.2", "url": "https://www.ensembl.org/id/ENSP00000408354.2" } ] } }, { "isoform_ac": "Q969N2-1", "url": "", "sequence": { "sequence": "MAAAMPLALLVLLLLGPGGWCLAEPPRDSLREELVITPLPSGDVAATFQFRTRWDSELQREGVSHYRLFPKALGQLISKYSLRELHLSFTQGFWRTRYWGPPFLQAPSGAELWVWFQDTVTDVDKSWKELSNVLSGIFCASLNFIDSTNTVTPTASFKPLGLANDTDHYFLRYAVLPREVVCTENLTPWKKLLPCSSKAGLSVLLKADRLFHTSYHSQAVHIRPVCRNARCTSISWELRQTLSVVFDAFITGQGKKDWSLFRMFSRTLTEPCPLASESRVYVDITTYNQDNETLEVHPPPTTTYQDVILGTRKTYAIYDLLDTAMINNSRNLNIQLKWKRPPENEAPPVPFLHAQRYVSGYGLQKGELSTLLYNTHPYRAFPVLLLDTVPWYLRLYVHTLTITSKGKENKPSYIHYQPAQDRLQPHLLEMLIQLPANSVTKVSIQFERALLKWTEYTPDPNHGFYVSPSVLSALVPSMVAAKPVDWEESPLFNSLFPVSDGSNYFVRLYTEPLLVNLPTPDFSMPYNVICLTCTVVAVCYGSFYNLLTRTFHIEEPRTGGLAKRLANLIRRARGVPPL", "length": 578, "header": "sp|Q969N2-1|PIGT_HUMAN Isoform 1 of GPI transamidase component PIG-T OS=Homo sapiens OX=9606 GN=PIGT PE=1 SV=1 CANONICAL=Q969N2-1" }, "locus": { "chromosome": "20", "start_pos": 45425823, "end_pos": 45416157, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000279036.12", "url": "https://www.ensembl.org/id/ENST00000279036.12" }, { "database": "Ensembl Peptide", "id": "ENSP00000279036.6", "url": "https://www.ensembl.org/id/ENSP00000279036.6" } ] } }, { "isoform_ac": "Q969N2-2", "url": "", "sequence": { "sequence": "MAAAMPLALLVLLLLGPGGWCLAEPPRDSLREELVITPLPSGDVAATFQFRTRWDSELQREGDWSLFRMFSRTLTEPCPLASESRVYVDITTYNQDNETLEVHPPPTTTYQDVILGTRKTYAIYDLLDTAMINNSRNLNIQLKWKRPPENEAPPVPFLHAQRYVSGYGLQKGELSTLLYNTHPYRAFPVLLLDTVPWYLRLYVHTLTITSKGKENKPSYIHYQPAQDRLQPHLLEMLIQLPANSVTKVSIQFERALLKWTEYTPDPNHGFYVSPSVLSALVPSMVAAKPVDWEESPLFNSLFPVSDGSNYFVRLYTEPLLVNLPTPDFSMPYNVICLTCTVVAVCYGSFYNLLTRTFHIEEPRTGGLAKRLANLIRRARGVPPL", "length": 384, "header": "sp|Q969N2-2|PIGT_HUMAN Isoform 2 of GPI transamidase component PIG-T OS=Homo sapiens OX=9606 GN=PIGT PE=1 SV=1 CANONICAL=Q969N2-1" }, "locus": { "chromosome": "20", "start_pos": 45425823, "end_pos": 45416157, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000545755.3", "url": "https://www.ensembl.org/id/ENST00000545755.3" }, { "database": "Ensembl Peptide", "id": "ENSP00000443963.3", "url": "https://www.ensembl.org/id/ENSP00000443963.3" } ] } }, { "isoform_ac": "Q969N2-3", "url": "", "sequence": { "sequence": "MWIPRGQSPRPTPDRPLSPSDTDHYFLRYAVLPREVVCTENLTPWKKLLPCSSKAGLSVLLKADRLFHTSYHSQAVHIRPVCRNARCTSISWELRQTLSVVFDAFITGQGKKDWSLFRMFSRTLTEPCPLASESRVYVDITTYNQDNETLEVHPPPTTTYQDVILGTRKTYAIYDLLDTAMINNSRNLNIQLKWKRPPENGYIHYQPAQDRLQPHLLEMLIQLPANSVTKVSIQFERALLKWTEYTPDPNHGFYVSPSVLSALVPSMVAAKPVDWEESPLFNSLFPVSDGSNYFVRLYTEPLLVNLPTPDFSMPYNVICLTCTVVAVCYGSFYNLLTRTFHIEEPRTGGLAKRLANLIRRARGVPPL", "length": 367, "header": "sp|Q969N2-3|PIGT_HUMAN Isoform 3 of GPI transamidase component PIG-T OS=Homo sapiens OX=9606 GN=PIGT PE=1 SV=1 CANONICAL=Q969N2-1" }, "locus": {} }, { "isoform_ac": "Q969N2-4", "url": "", "sequence": { "sequence": "MAAAMPLALLVLLLLGPGGWCLAEPPRDSLREELVITPLPSGDVAATFQFRTRWDSELQREGDTDHYFLRYAVLPREVVCTENLTPWKKLLPCSSKAGLSVLLKADRLFHTSYHSQAVHIRPVCRNARCTSISWELRQTLSVVFDAFITGQGKKDWSLFRMFSRTLTEPCPLASESRVYVDITTYNQDNETLEVHPPPTTTYQDVILGTRKTYAIYDLLDTAMINNSRNLNIQLKWKRPPENEAPPVPFLHAQRYVSGYGLQKGELSTLLYNTHPYRAFPVLLLDTVPWYLRLYVHTLTITSKGKENKPSYIHYQPAQDRLQPHLLEMLIQLPANSVTKVSIQFERALLKWTEYTPDPNHGFYVSPSVLSALVPSMVAAKPVDWEESPLFNSLFPVSDGSNYFVRLYTEPLLVNLPTPDFSMPYNVICLTCTVVAVCYGSFYNLLTRTFHIEEPRTGGLAKRLANLIRRARGVPPL", "length": 476, "header": "sp|Q969N2-4|PIGT_HUMAN Isoform 4 of GPI transamidase component PIG-T OS=Homo sapiens OX=9606 GN=PIGT PE=1 SV=1 CANONICAL=Q969N2-1" }, "locus": { "chromosome": "20", "start_pos": 45425823, "end_pos": 45416157, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000279035.14", "url": "https://www.ensembl.org/id/ENST00000279035.14" }, { "database": "Ensembl Peptide", "id": "ENSP00000279035.8", "url": "https://www.ensembl.org/id/ENSP00000279035.8" } ] } }, { "isoform_ac": "Q969N2-5", "url": "", "sequence": { "sequence": "MAAAMPLALLVLLLLGPGGWCLAEPPRDSLREELVITPLPSGDVAATFQFRTRWDSELQREGVSHYRLFPKALGQLISKYSLRELHLSFTQGFWRTRYWGPPFLQAPSDTDHYFLRYAVLPREVVCTENLTPWKKLLPCSSKAGLSVLLKADRLFHTSYHSQAVHIRPVCRNARCTSISWELRQTLSVVFDAFITGQGKKDWSLFRMFSRTLTEPCPLASESRVYVDITTYNQDNETLEVHPPPTTTYQDVILGTRKTYAIYDLLDTAMINNSRNLNIQLKWKRPPENEAPPVPFLHAQRYVSGYGLQKGELSTLLYNTHPYRAFPVLLLDTVPWYLRLYVHTLTITSKGKENKPSYIHYQPAQDRLQPHLLEMLIQLPANSVTKVSIQFERALLKWTEYTPDPNHGFYVSPSVLSALVPSMVAAKPVDWEESPLFNSLFPVSDGSNYFVRLYTEPLLVNLPTPDFSMPYNVICLTCTVVAVCYGSFYNLLTRTFHIEEPRTGGLAKRLANLIRRARGVPPL", "length": 522, "header": "sp|Q969N2-5|PIGT_HUMAN Isoform 5 of GPI transamidase component PIG-T OS=Homo sapiens OX=9606 GN=PIGT PE=1 SV=1 CANONICAL=Q969N2-1" }, "locus": { "chromosome": "20", "start_pos": 45425823, "end_pos": 45416157, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000543458.7", "url": "https://www.ensembl.org/id/ENST00000543458.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000441577.1", "url": "https://www.ensembl.org/id/ENSP00000441577.1" } ] } }, { "isoform_ac": "Q969N2-6", "url": "", "sequence": { "sequence": "MAAAMPLALLVLLLLGPGGWCLAEPPRDSLREELVITPLPSGDVAATFQFRTRWDSELQREGVSHYRLFPKALGQLISKYSLRELHLSFTQGFWRTRYWGPPFLQAPSGAELWVWFQDTVTDVDKSWKELSNVLSGIFCASLNFIDSTNTVTPTASFKPLGLANDTDHYFLRYAVLPREVVCTENLTPWKKLLPCSSKAGLSVLLKADRLFHTSYHSQAVHIRPVCRNARCTSISWELRQTLSVVFDAFITGQGKKDWSLFRMFSRTLTEPCPLASESRVYVDITTYNQDNETLEVHPPPTTTYQDVILGTRKTYAIYDLLDTAMINNSRNLNIQLKWKRPPENGYIHYQPAQDRLQPHLLEMLIQLPANSVTKVSIQFERALLKWTEYTPDPNHGFYVSPSVLSALVPSMVAAKPVDWEESPLFNSLFPVSDGSNYFVRLYTEPLLVNLPTPDFSMPYNVICLTCTVVAVCYGSFYNLLTRTFHIEEPRTGGLAKRLANLIRRARGVPPL", "length": 511, "header": "sp|Q969N2-6|PIGT_HUMAN Isoform 6 of GPI transamidase component PIG-T OS=Homo sapiens OX=9606 GN=PIGT PE=1 SV=1 CANONICAL=Q969N2-1" }, "locus": { "chromosome": "20", "start_pos": 45425823, "end_pos": 45416157, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000372689.9", "url": "https://www.ensembl.org/id/ENST00000372689.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000361774.4", "url": "https://www.ensembl.org/id/ENSP00000361774.4" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 164, "start_aa": "Asn", "end_pos": 164, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn164", "evidence": [ { "id": "Q969N2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q969N2#ptm_processing" }, { "id": "19159218", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19159218" }, { "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": 291, "start_aa": "Asn", "end_pos": 291, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn291", "evidence": [ { "id": "Q969N2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q969N2#ptm_processing" } ] }, { "glytoucan_ac": "G02815KT", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 327, "start_aa": "Asn", "end_pos": 327, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn327", "evidence": [ { "id": "Q969N2@N327", "database": "GPTwiki", "url": "https://edwardslab.bmcb.georgetown.edu/gptwiki/Q969N2@N327" } ] }, { "glytoucan_ac": "G06110VR", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 327, "start_aa": "Asn", "end_pos": 327, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn327", "evidence": [ { "id": "1286", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1286" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G39188ZX", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 327, "start_aa": "Asn", "end_pos": 327, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn327", "evidence": [ { "id": "1286", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1286" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G41247ZX", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 327, "start_aa": "Asn", "end_pos": 327, "end_aa": "Asn", "residue": "Asn", 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"https://www.uniprot.org/uniprot/Q969N2" }, { "database": "Reactome", "id": "R-HSA-162791", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-162791" } ], "reference": [ { "type": "PubMed", "id": "11483512", "url": "https://glygen.org/publication/PubMed/11483512" } ] }, { "title": "Two subunits of glycosylphosphatidylinositol transamidase, GPI8 and PIG-T, form a functionally important intermolecular disulfide bridge.", "journal": "J. Biol. Chem.", "date": "2003", "authors": "Ohishi K, Nagamune K, Maeda Y, Kinoshita T", "evidence": [ { "database": "UniProtKB", "id": "Q969N2", "url": "https://www.uniprot.org/uniprot/Q969N2" }, { "database": "RefSeq", "id": "NP_001171657", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171657" } ], "reference": [ { "type": "PubMed", "id": "12582175", "url": "https://glygen.org/publication/PubMed/12582175" } ] }, { "title": "Human PIG-U and yeast Cdc91p are the fifth subunit of GPI transamidase that attaches GPI-anchors to proteins.", "journal": "Molecular biology of the cell", "date": "2003", "authors": "Hong Y, Ohishi K, Kang JY, Tanaka S, Inoue N, Nishimura J, Maeda Y, Kinoshita T", "evidence": [ { "database": "Reactome", "id": "R-HSA-162791", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-162791" } ], "reference": [ { "type": "PubMed", "id": "12802054", "url": "https://glygen.org/publication/PubMed/12802054" } ] }, { "title": "The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment.", "journal": "Genome Res.", "date": "2003", "authors": "Clark HF, Gurney AL, Abaya E, Baker K, Baldwin D, Brush J, Chen J, Chow B, Chui C, Crowley C, Currell B, Deuel B, Dowd P, Eaton D, Foster J, Grimaldi C, Gu Q, Hass PE, Heldens S, Huang A, Kim HS, Klimowski L, Jin Y, Johnson S, Lee J, Lewis L, Liao D, Mark M, Robbie E, Sanchez C, Schoenfeld J, Seshagiri S, Simmons L, Singh J, Smith V, Stinson J, Vagts A, Vandlen R, Watanabe C, Wieand D, Woods K, Xie MH, Yansura D, Yi S, Yu G, Yuan J, Zhang M, Zhang Z, Goddard A, Wood WI, Godowski P, Gray A", "evidence": [ { "database": "UniProtKB", "id": "Q969N2", "url": "https://www.uniprot.org/uniprot/Q969N2" } ], "reference": [ { "type": "PubMed", "id": "12975309", "url": "https://glygen.org/publication/PubMed/12975309" } ] }, { "title": "Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries.", "journal": "DNA Res.", "date": "2005", "authors": "Otsuki T, Ota T, Nishikawa T, Hayashi K, Suzuki Y, Yamamoto J, Wakamatsu A, Kimura K, Sakamoto K, Hatano N, Kawai Y, Ishii S, Saito K, Kojima S, Sugiyama T, Ono T, Okano K, Yoshikawa Y, Aotsuka S, Sasaki N, Hattori A, Okumura K, Nagai K, Sugano S, Isogai T", "evidence": [ { "database": "UniProtKB", "id": "Q969N2", "url": "https://www.uniprot.org/uniprot/Q969N2" } ], "reference": [ { "type": "PubMed", "id": "16303743", "url": "https://glygen.org/publication/PubMed/16303743" } ] }, { "title": "Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.", "journal": "Journal of proteome research", "date": "2009", "authors": "Chen R, Jiang X, Sun D, Han G, Wang F, Ye M, Wang L, Zou H", "evidence": [ { "database": "UniProtKB", "id": "Q969N2", "url": "https://www.uniprot.org/uniprot/Q969N2#ptm_processing" }, { "database": "UniProtKB", "id": "Q969N2", "url": "https://www.uniprot.org/uniprot/Q969N2" } ], "reference": [ { "type": "PubMed", "id": "19159218", "url": "https://glygen.org/publication/PubMed/19159218" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "iPTMnet", "id": "Q969N2-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q969N2-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT.", "journal": "J. Med. Genet.", "date": "2013", "authors": "Kvarnung M, Nilsson D, Lindstrand A, Korenke GC, Chiang SC, Blennow E, Bergmann M, Stodberg T, Makitie O, Anderlid BM, Bryceson YT, Nordenskjold M, Nordgren A", "evidence": [ { "database": "UniProtKB", "id": "Q969N2", "url": "https://www.uniprot.org/uniprot/Q969N2" } ], "reference": [ { "type": "PubMed", "id": "23636107", "url": "https://glygen.org/publication/PubMed/23636107" } ] }, { "title": "A case of paroxysmal nocturnal hemoglobinuria caused by a germline mutation and a somatic mutation in PIGT.", "journal": "Blood", "date": "2013", "authors": "Krawitz PM, Hochsmann B, Murakami Y, Teubner B, Kruger U, Klopocki E, Neitzel H, Hoellein A, Schneider C, Parkhomchuk D, Hecht J, Robinson PN, Mundlos S, Kinoshita T, Schrezenmeier H", "evidence": [ { "database": "UniProtKB", "id": "Q969N2", "url": "https://www.uniprot.org/uniprot/Q969N2" } ], "reference": [ { "type": "PubMed", "id": "23733340", "url": "https://glygen.org/publication/PubMed/23733340" } ] }, { "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": "Novel compound heterozygous PIGT mutations caused multiple congenital anomalies-hypotonia-seizures syndrome 3.", "journal": "Neurogenetics", "date": "2014", "authors": "Nakashima Mitsuko, Kashii Hirofumi, Murakami Yoshiko, Kato Mitsuhiro, Tsurusaki Yoshinori, Miyake Noriko, Kubota Masaya, Kinoshita Taroh, Saitsu Hirotomo, Matsumoto Naomichi", "evidence": [ { "database": "UniProtKB", "id": "Q969N2", "url": "https://www.uniprot.org/uniprot/Q969N2" } ], "reference": [ { "type": "PubMed", "id": "24906948", "url": "https://glygen.org/publication/PubMed/24906948" } ] }, { "title": "Expanding the clinical and molecular characteristics of PIGT-CDG, a disorder of glycosylphosphatidylinositol anchors.", "journal": "Mol. Genet. Metab.", "date": "2015", "authors": "Lam Christina, Golas Gretchen A, Davids Mariska, Huizing Marjan, Kane Megan S, Krasnewich Donna M, Malicdan May Christine V, Adams David R, Markello Thomas C, Zein Wadih M, Gropman Andrea L, Lodish Maya B, Stratakis Constantine A, Maric Irina, Rosenzweig Sergio D, Baker Eva H, Ferreira Carlos R, Danylchuk Noelle R, Kahler Stephen, Garnica Adolfo D, Bradley Schaefer G, Boerkoel Cornelius F, Gahl William A, Wolfe Lynne A", "evidence": [ { "database": "UniProtKB", "id": "Q969N2", "url": "https://www.uniprot.org/uniprot/Q969N2" } ], "reference": [ { "type": "PubMed", "id": "25943031", "url": "https://glygen.org/publication/PubMed/25943031" } ] }, { "title": "Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders.", "journal": "Eur. J. Hum. Genet.", "date": "2017", "authors": "Pagnamenta AT, Murakami Y, Taylor JM, Anzilotti C, Howard MF, Miller V, Johnson DS, Tadros S, Mansour S, Temple IK, Firth R, Rosser E, Harrison RE, Kerr B, Popitsch N, Kinoshita T, Taylor JC, Kini U", "evidence": [ { "database": "UniProtKB", "id": "Q969N2", "url": "https://www.uniprot.org/uniprot/Q969N2" }, { "database": "RefSeq", "id": "NP_001171657", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171657" } ], "reference": [ { "type": "PubMed", "id": "28327575", "url": "https://glygen.org/publication/PubMed/28327575" } ] }, { "title": "Epileptic apnea in a patient with inherited glycosylphosphatidylinositol anchor deficiency and PIGT mutations.", "journal": "Brain Dev.", "date": "2018", "authors": "Kohashi K, Ishiyama A, Yuasa S, Tanaka T, Miya K, Adachi Y, Sato N, Saitsu H, Ohba C, Matsumoto N, Murakami Y, Kinoshita T, Sugai K, Sasaki M", "evidence": [ { "database": "UniProtKB", "id": "Q969N2", "url": "https://www.uniprot.org/uniprot/Q969N2" }, { "database": "RefSeq", "id": "NP_001171657", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171657" } ], "reference": [ { "type": "PubMed", "id": "28728837", "url": "https://glygen.org/publication/PubMed/28728837" } ] }, { "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": "UniCarbKB", "id": "Q969N2", "url": "" }, { "database": "GlyConnect", "id": "1286", "url": "https://glyconnect.expasy.org/browser/proteins/1286" } ], "reference": [ { "type": "PubMed", "id": "29741879", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "title": "Homozygous PIGT Mutation Lead to Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3.", "journal": "Front. Genet.", "date": "2018", "authors": "Yang Li, Peng Jing, Yin Xiao-Meng, Pang Nan, Chen Chen, Wu Teng-Hui, Zou Xiao-Min, Yin Fei", "evidence": [ { "database": "UniProtKB", "id": "Q969N2", "url": "https://www.uniprot.org/uniprot/Q969N2" } ], "reference": [ { "type": "PubMed", "id": "29868109", "url": "https://glygen.org/publication/PubMed/29868109" } ] }, { "title": "Case report of a child bearing a novel deleterious splicing variant in PIGT.", "journal": "Medicine (Baltimore)", "date": "2019", "authors": "Mason Samantha, Castilla-Vallmanya Laura, James Con, Andrews P Ian, Balcells Susana, Grinberg Daniel, Kirk Edwin P, Urreizti Roser", "evidence": [ { "database": "UniProtKB", "id": "Q969N2", "url": "https://www.uniprot.org/uniprot/Q969N2" } ], "reference": [ { "type": "PubMed", "id": "30813157", "url": "https://glygen.org/publication/PubMed/30813157" } ] }, { "title": "PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristics.", "journal": "Genet. Med.", "date": "2019", "authors": "Bayat Allan, Knaus Alexej, Juul Annika Wollenberg, Dukic Dejan, Gardella Elena, Charzewska Agnieszka, Clement Emma, Hjalgrim Helle, Hoffman-Zacharska Dorota, Horn Denise, Horton Rachel, Hurst Jane A, Josifova Dragana, Larsen Line H G, Lascelles Karine, Obersztyn Ewa, Pagnamenta Alistair, Pal Deb K, Pendziwiat Manuela, Ryten Mina, Taylor Jenny, Vogt Julie, Weber Yvonne, Krawitz Peter M, Helbig Ingo, Kini Usha, M\u00f8ller Rikke S,", "evidence": [ { "database": "UniProtKB", "id": "Q969N2", "url": "https://www.uniprot.org/uniprot/Q969N2" } ], "reference": [ { "type": "PubMed", "id": "30976099", "url": "https://glygen.org/publication/PubMed/30976099" } ] }, { "title": "Analyzing clinical and genetic characteristics of a cohort with multiple congenital anomalies-hypotonia-seizures syndrome (MCAHS).", "journal": "Orphanet J. Rare Dis.", "date": "2020", "authors": "Jiao Xianru, Xue Jiao, Gong Pan, Bao Xinhua, Wu Ye, Zhang Yuehua, Jiang Yuwu, Yang Zhixian", "evidence": [ { "database": "UniProtKB", "id": "Q969N2", "url": "https://www.uniprot.org/uniprot/Q969N2" } ], "reference": [ { "type": "PubMed", "id": "32220244", "url": "https://glygen.org/publication/PubMed/32220244" } ] }, { "title": "Molecular diagnosis in recessive pediatric neurogenetic disease can help reduce disease recurrence in families.", "journal": "BMC Med. Genomics", "date": "2020", "authors": "Issa Mahmoud Y, Chechlacz Zinayida, Stanley Valentina, George Renee D, McEvoy-Venneri Jennifer, Belandres Denice, Elbendary Hasnaa M, Gaber Khaled R, Nabil Ahmed, Abdel-Hamid Mohamed S, Zaki Maha S, Gleeson Joseph G", "evidence": [ { "database": "UniProtKB", "id": "Q969N2", "url": "https://www.uniprot.org/uniprot/Q969N2" } ], "reference": [ { "type": "PubMed", "id": "32404165", "url": "https://glygen.org/publication/PubMed/32404165" } ] }, { "title": "Evidence of the milder phenotypic spectrum of c.1582G>A PIGT variant: Delineation based on seven novel Polish patients.", "journal": "Clin. Genet.", "date": "2020", "authors": "Jezela-Stanek A, Szczepanik E, Mierzewska H, Rydzanicz M, Rutkowska K, Knaus A, Smigiel R, Stepniak I, Markiewicz MG, Boniel S, Krawitz P, Ploski R", "evidence": [ { "database": "UniProtKB", "id": "Q969N2", "url": "https://www.uniprot.org/uniprot/Q969N2" }, { "database": "RefSeq", "id": "NP_001171657", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171657" } ], "reference": [ { "type": "PubMed", "id": "32725661", "url": "https://glygen.org/publication/PubMed/32725661" } ] }, { "title": "Bilateral anterior segment dysgenesis and peripheral avascular retina with tractional retinal detachment in an infant with multiple congenital anomalies-hypotony-seizures syndrome 3.", "journal": "Ophthalmic genetics", "date": "2021", "authors": "Wu F, Goldenberg PC, Mukai S", "evidence": [ { "database": "RefSeq", "id": "NP_001171657", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171657" } ], "reference": [ { "type": "PubMed", "id": "33620284", "url": "https://glygen.org/publication/PubMed/33620284" } ] }, { "title": "Deep-Phenotyping the Less Severe Spectrum of PIGT Deficiency and Linking the Gene to Myoclonic Atonic Seizures.", "journal": "Front. Genet.", "date": "2021", "authors": "Bayat Allan, Pendziwiat Manuela, Obersztyn Ewa, Goldenberg Paula, Zacher Pia, D\u00f6ring Jan Henje, Syrbe Steffen, Begtrup Amber, Borovikov Artem, Sharkov Artem, Karasi\u0144ska Aneta, Gi\u017cewska Maria, Mitchell Wendy, Morava Eva, M\u00f8ller Rikke S, Rubboli Guido", "evidence": [ { "database": "UniProtKB", "id": "Q969N2", "url": "https://www.uniprot.org/uniprot/Q969N2" } ], "reference": [ { "type": "PubMed", "id": "34046058", "url": "https://glygen.org/publication/PubMed/34046058" } ] }, { "title": "Compound Heterozygous PIGT Mutations in Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome: First Case in Korea and Characterization by Persistent Hypophosphatasia.", "journal": "Ann. Clin. Lab. Sci.", "date": "2021", "authors": "Hur Yun Jung, Lee Bo Lyun, Chung Woo Yeong, Yu Shinae, Jun Kyung Ran, Oh Seung Hwan", "evidence": [ { "database": "UniProtKB", "id": "Q969N2", "url": "https://www.uniprot.org/uniprot/Q969N2" } ], "reference": [ { "type": "PubMed", "id": "34162574", "url": "https://glygen.org/publication/PubMed/34162574" } ] }, { "title": "Truncation of the TPR domain of OGT alters substrate and glycosite selection.", "journal": "Analytical and bioanalytical chemistry", "date": "2021", "authors": "Ramirez DH, Yang B, D'Souza AK, Shen D, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q969N2", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q969N2" } ], "reference": [ { "type": "PubMed", "id": "34725712", "url": "https://glygen.org/publication/PubMed/34725712" } ] }, { "title": "Case report: Functional analysis of the p.Arg507Trp variant of the PIGT gene supporting the moderate epilepsy phenotype of mutations in the C-terminal region.", "journal": "Front. Neurol.", "date": "2023", "authors": "Ben Ayed Ikhlas, Jallouli Olfa, Murakami Yoshiko, Souissi Amal, Mallouli Salma, Bouzid Amal, Kamoun Fatma, Elloumi Ines, Frikha Fakher, Tlili Abdelaziz, Weckhuysen Sarah, Kinoshita Taroh, Triki Chahnez Charfi, Masmoudi Saber", "evidence": [ { "database": "UniProtKB", "id": "Q969N2", "url": "https://www.uniprot.org/uniprot/Q969N2" } ], "reference": [ { "type": "PubMed", "id": "36970549", "url": "https://glygen.org/publication/PubMed/36970549" } ] }, { "title": "The affected gene underlying the class K glycosylphosphatidylinositol (GPI) surface protein defect codes for the GPI transamidase.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1997", "authors": "Yu J, Nagarajan S, Knez JJ, Udenfriend S, Chen R, Medof ME", "evidence": [ { "database": "Reactome", "id": "R-HSA-162791", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-162791" } ], "reference": [ { "type": "PubMed", "id": "9356492", "url": "https://glygen.org/publication/PubMed/9356492" } ] } ], "pathway": [ { "id": "hsa:51604", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:51604", "resource": "KEGG Pathway" }, { "id": "R-HSA-162791", "name": "Attachment of GPI anchor to uPAR", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-162791", "resource": "Reactome", "description": "Attachment of GPI anchor to uPAR" } ], "orthologs": [ { "uniprot_canonical_ac": "A0A8I6GIH3-1", "protein_name": "Phosphatidylinositol glycan anchor biosynthesis, class T", "gene_name": "Pigt", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MAAAMPLGLSLLLLVLVGQGCCGRVEGPRDSLREELVITPLPSGDVAATFQFRTRWDSDLQREGVSHYRLFPKALGQLISKYSLRELHLSFTQGFWRTRYWGPPFLQAPSGAELWVWFQDTVTDVDKSWKELSNVLSGIFCASLNFIDSTNTVTPTASFKPLGLANDTDHYFLRYAVLPREVVCTENLTPWKKLLPCSSKAGLSVLLKADRLFHTSYHSQAVHIRPICRNAHCTSISWELRQTLSVVFDAFITGQGKKDWSLFRMFSRTLTEACPLASQSLVYVDITGYSQDNETLEVSPPPTSTYQDVILGTRKTYAVYDLFDTAMINNSRNLNIQLKWKRPPDNEALPVPFLHAQRYVSGYGLQKGELSTLLYNSHPYRAFPVLLLDAVPWYLRLYVHTLTITSKGKDNKPIGQTPQILHTDGLVESLFPIETSQAISTICIALNILILQAPTEQLSYIHYQPAQDRQQPHLLEMLIQLPANSVTKVSIQFERALLKWTEYTPDPNHGFYVSPSVLSALVPSMVAAKPVDWEESPLFNTLFPVSDGSSYFVRLYTEPLLVNLPTPDFSMPYNVICLTCTVVAVCYGSFYNLLTRTFHIEEPKSGGLAKRLANLIRRARGVPPL", "length": 625 }, "evidence": [ { "id": "45234858", "url": "http://www.informatics.jax.org/homology/45234858", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "P38875-1", "protein_name": "GPI transamidase component GPI16", "gene_name": "GPI16", "tax_id": 559292, "organism": "Saccharomyces cerevisiae S288C", "sequence": { "sequence": "MILTLAYFMLGTLLLGVFAEDTVSQIGINDSLWYPYDEALVLKPLPNNDLLLSFAFQLQSEPFDPAVSSMSYDAYEHYTTFPRAIPPLLESTATRQFHLRFTRGFWDALSWGQLPHAGKEAGASGVELWSQVQAMDQEQAFHNWKKLSNSLSGLFCSSLNFIDESRTTFPRRSYASDIGAPLFNSTEKLYLMRASLPNEPICTENLTPFIKLLPTRGKSGLTSLLDGHKLFDSLWNSISLDIATICSEDEDALCHYEMDARIEMVTHVPSALARGERPIPKPLDGNTLRCDTDKPFDSYQCFPLPEPSQTHFKLSQLFARPINNGNLFANRPTRICAEVDRSTWTAFLSVDDTIFSTHDNCFDLSNDQNEGGSGYDFILESTDTTKVTPIVPVPIHVSRSLTGNGQDRGGMRIVFHNDNDTPVKLIYFESLPWFMRVYLSSLQITSTTSPQLQENDIILDKYYLQAADRKRPGHLEFTMLIPANTDIVMTYQFDKALLQFAEYPPDANHGFEIDAAVITVLSLESSSSLYEMRTSTLLLSLSTPDFSMPYNVIILTSTIMGLIFGMLYNLMVKRMVTVEEADKITLQSGLKYKLLKLKEKFLGKKKTKTD", "length": 610 }, "evidence": [ { "id": "Q969N2", "url": "https://omabrowser.org/oma/group/Q969N2/", "database": "OMA" } ], "common_name": "Yeast" }, { "uniprot_canonical_ac": "Q8BXQ2-1", "protein_name": "GPI transamidase component PIG-T", "gene_name": "Pigt", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MAAAMPLGLPLRLLVLLLVGRGCCGCAEGPRDSLREELVITPLPSGDVAATFQFRTRWDSDLQREGVSHYRLFPKALGQLISKYSLRELHLSFTQGFWRTRYWGPPFLQAPSGAELWVWFQDTVTDVDKSWRELSNVLSGIFCASLNFIDATNTVTPTASFKPLGLANDTDDYFLRYAVLPREVVCTENLTPWKKLLPCSSKAGLSVLLKADRLFHTSYHSQAVHIRPICRNAHCTSISWELRQTLSVVFDAFITGQGKKDWSLFRMFSRTLTEACPLASQSLVYVDITGYSQDNETLEVSPPPTSTYQDVILGTRKTYAVYDLFDTAMINNSRNLNIQLKWKRPPDNEALPVPFLHAQRYVSGYGLQKGELSTLLYNSHPYRAFPVLLLDVVPWYLRLYVHTLTITSKGKENKPSYIHYQPAQDRQQPHLLEMLIQLPANSVTKVSIQFERALLKWTEYTPDPNHGFYVSPSVLSALVPSVVAAKPVDWEGSPLFNTLFPVSDGSSYFVRLYTEPLLVNLPTPDFSMPYNVICLTCTVVAVCYGSFYNLLTRTFHIEEPKSGGLAKRLANLIRRARGVPPL", "length": 582 }, "evidence": [ { "id": "45234858", "url": "http://www.informatics.jax.org/homology/45234858", "database": "MGI" }, { "id": "Q969N2", "url": "https://omabrowser.org/oma/group/Q969N2/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Biological Process", "total": 3, "go_terms": [ { "name": "attachment of GPI anchor to protein", "id": "GO:0016255", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016255", "evidence": [ { "database": "UniProtKB", "id": "Q969N2", "url": "https://www.uniprot.org/uniprot/Q969N2" } ], "pmid": "" }, { "name": "neuron apoptotic process", "id": "GO:0051402", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051402", "evidence": [ { "database": "UniProtKB", "id": "Q969N2", "url": "https://www.uniprot.org/uniprot/Q969N2" } ], "pmid": "" }, { "name": "neuron differentiation", "id": "GO:0030182", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030182", "evidence": [ { "database": "UniProtKB", "id": "Q969N2", "url": "https://www.uniprot.org/uniprot/Q969N2" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 4, "go_terms": [ { "name": "GPI-anchor transamidase complex", "id": "GO:0042765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042765", "evidence": [ { "database": "UniProtKB", "id": "Q969N2", "url": "https://www.uniprot.org/uniprot/Q969N2" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q969N2", "url": "https://www.uniprot.org/uniprot/Q969N2" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q969N2", "url": "https://www.uniprot.org/uniprot/Q969N2" } ], "pmid": "" }, { "name": "cytoplasmic vesicle", "id": "GO:0031410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031410", "evidence": [ { "database": "UniProtKB", "id": "Q969N2", "url": "https://www.uniprot.org/uniprot/Q969N2" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 164, "end_pos": 166, "annotation": "n_glycosylation_sequon" }, { "start_pos": 185, "end_pos": 187, "annotation": "n_glycosylation_sequon" }, { "start_pos": 291, "end_pos": 293, "annotation": "n_glycosylation_sequon" }, { "start_pos": 327, "end_pos": 329, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 9 }, { "field": "total_sites", "count": 5 }, { "field": "n_linked_glycans", "count": 4 }, { "field": "n_linked_glycan_sites", "count": 5 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "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": 5 }, { "field": "total_sites", "count": 2 }, { "field": "n_linked_glycans", "count": 4 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "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": 2 }, { "field": "total_sites", "count": 2 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", 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