{ "bcoid": "GLY_000517", "title": "Human O-GlcNAc Glycosylation Sites (MCW)", "description": "The Human O-GlcNAc Glycosylation Sites (MCW) contains human (taxid:9606) O-GlcNAc modifications on Serine ...", "filename": "human_proteoform_glycosylation_sites_o_glcnac_mcw.csv", "filetype": "csv", "categories": { "species": "Homo sapiens", "molecule": "Proteoform", "tags": "O-GlcNAc Glycosylation Sites (MCW)", "file_type": "csv", "status": "Reviewed", "scope": "internal" }, "minitable": { "content": [ [ "A0A075B759-1...", "..." ], [ "A0A075B759-1...", "..." ] ], "headers": [ "uniprotkb_ca...", "glycosylatio..." ], "colwidth": [ "40%", "20%" ] }, "sampledata": { "type": "table", "data": [ [ { "type": "string", "label": "uniprotkb_canonical_ac" }, { "type": "string", "label": "glycosylation_site_uniprotkb" }, { "type": "string", "label": "amino_acid" }, { "type": "string", "label": "saccharide" }, { "type": "string", "label": "glycosylation_type" }, { "type": "string", "label": "xref_key" }, { "type": "string", "label": "xref_id" }, { "type": "string", "label": "src_xref_key" }, { "type": "string", "label": "src_xref_id" }, { "type": "string", "label": "o_glcnac_score" }, { "type": "string", "label": "sites_bonus" }, { "type": "string", "label": "disclaimer" }, { "type": "string", "label": "o_glcnac_sites" }, { "type": "string", "label": "column1" }, { "type": "string", "label": "number_of_references" }, { "type": "string", "label": "ms_based_lc_etd_hcd_cad_ms_ms" }, { "type": "string", "label": "labeling_enzymatic_&_metabolic" }, { "type": "string", "label": "ip_based" }, { "type": "string", "label": "lectin_based" }, { "type": "string", "label": "in_vitro_o_glcnacylation" }, { "type": "string", "label": "ogt_nanobody" }, { "type": "string", "label": "count_techniques" }, { "type": "string", "label": "notes" }, { "type": "string", "label": "eco_id" }, { "type": "string", "label": "carb_name" }, { "type": "string", "label": "glycosylation_subtype" }, { "type": "string", "label": "status" }, { "type": "string", "label": "uniprotkb_id" }, { "type": "string", "label": "gene_name" }, { "type": "string", "label": "recommended_name_full" }, { "type": "string", "label": "peptide" } ], [ "A0A075B759-1", "", "", "G49108TO", "O-linked", "protein_xref_oglcnac_db", "A0A075B759", "protein_xref_oglcnac_db", "A0A075B759", "3", "0", "0", "", "0", "1", "1", "1", "0", "0", "0", "0", "2", "", "ECO_0000269", "GlcNac", "O-GlcNAcylation", "reviewed", "PAL4E_HUMAN", "PPIAL4E", "Peptidyl-prolyl cis-trans isomerase A-like 4E", "" ], [ "A0A075B759-1", "", "", "G49108TO", "O-linked", "protein_xref_pubmed", "30444036", "protein_xref_oglcnac_db", "A0A075B759", "3", "0", "0", "", "0", "1", "1", "1", "0", "0", "0", "0", "2", "", "ECO_0000269", "GlcNac", "O-GlcNAcylation", "reviewed", "PAL4E_HUMAN", "PPIAL4E", "Peptidyl-prolyl cis-trans isomerase A-like 4E", "" ], [ "A0A0B4J2D5-1", "", "", "G49108TO", "O-linked", "protein_xref_oglcnac_db", "A0A0B4J2D5", "protein_xref_oglcnac_db", 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"protein_xref_oglcnac_db", "A0FGR8", "protein_xref_oglcnac_db", "A0FGR8", "20", "15", "0", "S758", "0", "3", "1", "1", "0", "0", "0", "0", "2", "", "ECO_0000269", "GlcNac", "O-GlcNAcylation", "reviewed", "ESYT2_HUMAN", "ESYT2", "Extended synaptotagmin-2", "TPSIA-S-DISLP" ], [ "A0FGR8-1", "758", "Ser", "G49108TO", "O-linked", "protein_xref_pubmed", "28411811", "protein_xref_oglcnac_db", "A0FGR8", "20", "15", "0", "S758", "0", "3", "1", "1", "0", "0", "0", "0", "2", "", "ECO_0000269", "GlcNac", "O-GlcNAcylation", "reviewed", "ESYT2_HUMAN", "ESYT2", "Extended synaptotagmin-2", "TPSIA-S-DISLP" ], [ "A0FGR8-1", "758", "Ser", "G49108TO", "O-linked", "protein_xref_oglcnac_db", "A0FGR8", "protein_xref_oglcnac_db", "A0FGR8", "20", "15", "0", "S758", "0", "3", "1", "1", "0", "0", "0", "0", "2", "", "ECO_0000269", "GlcNac", "O-GlcNAcylation", "reviewed", "ESYT2_HUMAN", "ESYT2", "Extended synaptotagmin-2", "TPSIA-S-DISLP" ], [ "A0FGR8-1", "758", "Ser", "G49108TO", "O-linked", 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"G49108TO", "O-linked", "protein_xref_pubmed", "28411811", "protein_xref_oglcnac_db", "A1E959", "2", "0", "0", "", "0", "1", "1", "0", "0", "0", "0", "0", "1", "", "ECO_0000269", "GlcNac", "O-GlcNAcylation", "reviewed", "ODAM_HUMAN", "ODAM", "Apin", "" ], [ "A1L020-1", "", "", "G49108TO", "O-linked", "protein_xref_oglcnac_db", "A1L020", "protein_xref_oglcnac_db", "A1L020", "3", "0", "0", "", "0", "1", "1", "1", "0", "0", "0", "0", "2", "", "ECO_0000269", "GlcNac", "O-GlcNAcylation", "reviewed", "MEX3A_HUMAN", "MEX3A", "RNA-binding protein MEX3A", "" ], [ "A1L020-1", "", "", "G49108TO", "O-linked", "protein_xref_pubmed", "23301498", "protein_xref_oglcnac_db", "A1L020", "3", "0", "0", "", "0", "1", "1", "1", "0", "0", "0", "0", "2", "", "ECO_0000269", "GlcNac", "O-GlcNAcylation", "reviewed", "MEX3A_HUMAN", "MEX3A", "RNA-binding protein MEX3A", "" ], [ "A1L0T0-1", "121", "Thr", "G49108TO", "O-linked", "protein_xref_oglcnac_db", "A1L0T0", "protein_xref_oglcnac_db", "A1L0T0", "18", "15", "0", "T121", "0", "1", "1", "1", "0", "0", "0", "0", "2", "", "ECO_0000269", "GlcNac", "O-GlcNAcylation", "reviewed", "HACL2_HUMAN", "ILVBL", "2-hydroxyacyl-CoA lyase 2", "GVAAV-T-AGPGL" ], [ "A1L0T0-1", "121", "Thr", "G49108TO", "O-linked", "protein_xref_pubmed", "29351928", "protein_xref_oglcnac_db", "A1L0T0", "18", "15", "0", "T121", "0", "1", "1", "1", "0", "0", "0", "0", "2", "", "ECO_0000269", "GlcNac", "O-GlcNAcylation", "reviewed", "HACL2_HUMAN", "ILVBL", "2-hydroxyacyl-CoA lyase 2", "GVAAV-T-AGPGL" ], [ "A1L188-1", "", "", "G49108TO", "O-linked", "protein_xref_oglcnac_db", "A1L188", "protein_xref_oglcnac_db", "A1L188", "3", "0", "0", "", "0", "1", "1", "1", "0", "0", "0", "0", "2", "", "ECO_0000269", "GlcNac", "O-GlcNAcylation", "reviewed", "NDUF8_HUMAN", "NDUFAF8", "NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 8", "" ], [ "A1L188-1", "", "", "G49108TO", "O-linked", "protein_xref_pubmed", "28510447", "protein_xref_oglcnac_db", "A1L188", "3", "0", "0", "", "0", "1", "1", "1", "0", "0", "0", "0", "2", "", "ECO_0000269", "GlcNac", "O-GlcNAcylation", "reviewed", "NDUF8_HUMAN", "NDUFAF8", "NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 8", "" ], [ "A1L4H1-1", "", "", "G49108TO", "O-linked", "protein_xref_oglcnac_db", "A1L4H1", "protein_xref_oglcnac_db", "A1L4H1", "2", "0", "0", "", "0", "1", "1", "0", "0", "0", "0", "0", "1", "", "ECO_0000269", "GlcNac", "O-GlcNAcylation", "reviewed", "SRCRL_HUMAN", "SSC5D", "Soluble scavenger receptor cysteine-rich domain-containing protein SSC5D", "" ], [ "A1L4H1-1", "", "", "G49108TO", "O-linked", "protein_xref_pubmed", "28411811", "protein_xref_oglcnac_db", "A1L4H1", "2", "0", "0", "", "0", "1", "1", "0", "0", "0", "0", "0", "1", "", "ECO_0000269", "GlcNac", "O-GlcNAcylation", "reviewed", "SRCRL_HUMAN", "SSC5D", "Soluble scavenger receptor cysteine-rich domain-containing protein SSC5D", "" ], [ "A2A3N6-1", "", "", "G49108TO", "O-linked", "protein_xref_oglcnac_db", "A2A3N6", "protein_xref_oglcnac_db", "A2A3N6", "3", "0", "0", "", "0", "1", "1", "0", "1", "0", "0", "0", "2", "", "ECO_0000269", "GlcNac", "O-GlcNAcylation", "reviewed", "PIPSL_HUMAN", "PIPSL", "Putative PIP5K1A and PSMD4-like protein", "" ], [ "A2A3N6-1", "", "", "G49108TO", "O-linked", "protein_xref_pubmed", "20305658", "protein_xref_oglcnac_db", "A2A3N6", "3", "0", "0", "", "0", "1", "1", "0", "1", "0", "0", "0", "2", "", "ECO_0000269", "GlcNac", "O-GlcNAcylation", "reviewed", "PIPSL_HUMAN", "PIPSL", "Putative PIP5K1A and PSMD4-like protein", "" ], [ "A2RTX5-1", "", "", "G49108TO", "O-linked", "protein_xref_oglcnac_db", "A2RTX5", "protein_xref_oglcnac_db", "A2RTX5", "2", "0", "0", "", "0", "1", "1", "0", "0", "0", "0", "0", "1", "", "ECO_0000269", "GlcNac", "O-GlcNAcylation", "reviewed", "SYTC2_HUMAN", "TARS3", "Threonine--tRNA ligase 2, cytoplasmic", "" ], [ "A2RTX5-1", "", "", "G49108TO", "O-linked", "protein_xref_pubmed", "28411811", "protein_xref_oglcnac_db", "A2RTX5", "2", "0", "0", "", 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"", "ECO_0000269", "GlcNac", "O-GlcNAcylation", "reviewed", "SBNO1_HUMAN", "SBNO1", "Protein strawberry notch homolog 1", "KTPPV-T-TNRQT" ], [ "A3KN83-1", "112", "Thr", "G49108TO", "O-linked", "protein_xref_oglcnac_db", "A3KN83", "protein_xref_oglcnac_db", "A3KN83", "25", "15", "0", "T108/T112/T113/T126/T127/S129/T130/S133/S135/T138", "0", "7", "1", "1", "0", "0", "0", "1", "3", "", "ECO_0000269", "GlcNac", "O-GlcNAcylation", "reviewed", "SBNO1_HUMAN", "SBNO1", "Protein strawberry notch homolog 1", "KTPPV-T-TNRQT" ], [ "A3KN83-1", "112", "Thr", "G49108TO", "O-linked", "protein_xref_pubmed", "29351928", "protein_xref_oglcnac_db", "A3KN83", "25", "15", "0", "T108/T112/T113/T126/T127/S129/T130/S133/S135/T138", "0", "7", "1", "1", "0", "0", "0", "1", "3", "", "ECO_0000269", "GlcNac", "O-GlcNAcylation", "reviewed", "SBNO1_HUMAN", "SBNO1", "Protein strawberry notch homolog 1", "KTPPV-T-TNRQT" ], [ "A3KN83-1", "113", "Thr", "G49108TO", "O-linked", "protein_xref_oglcnac_db", "A3KN83", "protein_xref_oglcnac_db", "A3KN83", "25", "15", "0", "T108/T112/T113/T126/T127/S129/T130/S133/S135/T138", "0", "7", "1", "1", "0", "0", "0", "1", "3", "", "ECO_0000269", "GlcNac", "O-GlcNAcylation", "reviewed", "SBNO1_HUMAN", "SBNO1", "Protein strawberry notch homolog 1", "TPPVT-T-NRQTI" ], [ "A3KN83-1", "113", "Thr", "G49108TO", "O-linked", "protein_xref_pubmed", "20068230", "protein_xref_oglcnac_db", "A3KN83", "25", "15", "0", "T108/T112/T113/T126/T127/S129/T130/S133/S135/T138", "0", "7", "1", "1", "0", "0", "0", "1", "3", "", "ECO_0000269", "GlcNac", "O-GlcNAcylation", "reviewed", "SBNO1_HUMAN", "SBNO1", "Protein strawberry notch homolog 1", "TPPVT-T-NRQTI" ], [ "A3KN83-1", "113", "Thr", "G49108TO", "O-linked", "protein_xref_oglcnac_db", "A3KN83", "protein_xref_oglcnac_db", "A3KN83", "25", "15", "0", "T108/T112/T113/T126/T127/S129/T130/S133/S135/T138", "0", "7", "1", "1", "0", "0", "0", "1", "3", "", "ECO_0000269", "GlcNac", "O-GlcNAcylation", "reviewed", "SBNO1_HUMAN", "SBNO1", "Protein strawberry notch homolog 1", "TPPVT-T-NRQTI" ], [ "A3KN83-1", "113", "Thr", "G49108TO", "O-linked", "protein_xref_pubmed", "27655845", "protein_xref_oglcnac_db", "A3KN83", "25", "15", "0", "T108/T112/T113/T126/T127/S129/T130/S133/S135/T138", "0", "7", "1", "1", "0", "0", "0", "1", "3", "", "ECO_0000269", "GlcNac", "O-GlcNAcylation", "reviewed", "SBNO1_HUMAN", "SBNO1", "Protein strawberry notch homolog 1", "TPPVT-T-NRQTI" ] ] }, "readme": "Name\n - Human O-GlcNAc Glycosylation Sites (MCW)\n\nVersion\n - 1.11.2\n\nCreated on\n - 2020-07-09T13:50:43.000375\n\nModified on\n - 2021-02-22T19:26:46.446922\n\nCreated by\n - [jeetvora@gwu.edu], Rahi Navelkar [rsn13@gwu.edu], Robel Kahsay [rykahsay@gwu.edu], Karina Martinez [karinamartinez@gwu.edu], Amanda Bell [amandab2140@gwu.edu], Jonathon Keeney [keeneyjg@gwu.edu], Millicent Quartey [mquartey@email.gwu.edu]\n\nAuthors\n - Stephanie Olivier-Van Stichelen [solivier@mcw.edu], Eugenia Wulff-Fuentes [ewulff@mcw.edu], Rex R. Berendt [rberendt@mcw.edu], Logan Massman [lmassman@mcw.edu], Laura Danner [ldanner@mcw.edu]\n\nChecksum\n - \n\nUsability Domain\n - The Human O-GlcNAc Glycosylation Sites (MCW) contains human (taxid:9606) O-GlcNAc modifications on Serine and Threonine extracted from the publication and mapped to the UniProtKB canonical accession and fasta sequence. The GlyTouCan ID for the O-GlcNAc is G49108TO. The dataset also contains other information such as O-GlcNAc score, the count and the techniques used to determine the O-GlcNAc modification and the peptide sequence from the -5 to +5 postion of the modified residue. The dataset also containes disclaimer and notes where the position of sites in publication and in the fasta sequence varies.\n - The current dataset has 4997 proteins with O-GlcNAc modifications. Out of which 3262 proteins have no site information where as 1735 proteins have 6722 sites.\n - The dataset is contributed from The O-GlcNAc Database maintained by Stephanie Olivier's lab \n - Wulff-Fuentes E, Berendt RR, Massman L, Danner L, Malard F, Vora J, Kahsay R, and Olivier-Van Stichelen S, The Human O-GlcNAcome Database and Meta-Analysis. Scientific Data 8, 25 (2021) \n - QC check - The python script is used to process each protein entry of the database table and perform quality control (QC). In the QC checks, the reported UniProtKB accessions in the database are matched with the GlyGen\u2019s human protein master list of UniProtKB canonical accessions to ensure all of the proteins belong to human species. Next, the O-GlcNAc site data that contained the amino acid residue and its position are mapped to the GlyGen\u2019s fasta sequence for the corresponding human UniProtKB canonical proteins. The amino acid residues and positions that don't match with the fasta sequence of the canonical protein were flagged and excluded from the table. Similarly, the protein entries that don't have any site information are also excluded. The entries that passed all the quality control steps are exported as a final csv dataset file whereas the excluded entries are exported in a log file with the reasons for exclusion for further manual verification.\n - DISCLAIMER - For each entry, an O-GlcNAc score was attributed to each O-GlcNAcylated protein, reflecting the confidence in the protein\u2019s O-GlcNAcylation identification. The score combined the number of articles and techniques used and the availability of some O-GlcNAcylation sites. Interestingly, a total of 2,237 proteins had an O-GlcNAc score of 3 or under, meaning that (1) no sites were identified, (2) only one technique was used, and (3) 1-2 articles were associated with the entry. Often identified from large-scale proteomics studies, at least an extra-validation step would be highly recommended to confirm their O-GlcNAcylation.\n - The log file - https://data.glygen.org/ln2data/releases/data/v-1.11.2/logs/human_proteoform_glycosylation_sites_o_glcnac_mcw.log contains the entries that were excluded from the output file along with the reason for exclusion.\n - The orginal unprocessed dataset in excel format can be found at https://figshare.com/articles/The_human_O-GlcNAcome_database/12443495/4\n\nDescription Domain\n Keywords\n - O-GlcNAc\n\n Pipeline Steps\n - Step-1: The script maps the UniProtKB accesions to the UniProtKB Canonical accessions and also checks the position and amino acid of O-GlcNAc modified residue against UniProtKB Canonical sequences. The script that processes this dataset matches the amino acid and position with the latest release fasta file as a QC check to eliminate the incorrect entries. The script also adds the -5 and +5 amino acids from the modified residue in the peptide field.\n\nExecution Domain\n Scripts - https://github.com/glygener/glygen-backend-integration/blob/master/pipeline/integrator/make-proteoform-dataset.py\n\n\n Software Prerequisites\n Name: Python\n Version: 2.7.5\n URI: https://www.python.org/download/releases/2.7.5/\n\nI/O Domain\n Input Subdomain\n Name: human_o-glcnacome_mcw.csv\n URI: https://data.glygen.org/ln2data/releases/data/v-1.11.2/source/human_o-glcnacome_mcw.csv\n Name: human_protein_masterlist.csv\n URI: https://data.glygen.org/ln2data/releases/data/v-1.11.2/reviewed/human_protein_masterlist.csv\n Name: human_protein_allsequences.fasta\n URI: https://data.glygen.org/ln2data/releases/data/v-1.11.2/reviewed/human_protein_allsequences.fasta\n Output Subdomain\n Name: human_proteoform_glycosylation_sites_o_glcnac_mcw.csv\n URI: https://data.glygen.org/ln2data/releases/data/v-1.11.2/reviewed/human_proteoform_glycosylation_sites_o_glcnac_mcw.csv\n Name: human_proteoform_glycosylation_sites_o_glcnac_mcw.log\n URI: https://data.glygen.org/ln2data/releases/data/v-1.11.2/logs/human_proteoform_glycosylation_sites_o_glcnac_mcw.log\n Name: human_proteoform_glycosylation_sites_o_glcnac_mcw.stat.csv\n URI: https://data.glygen.org/ln2data/releases/data/v-1.11.2/reviewed/human_proteoform_glycosylation_sites_o_glcnac_mcw.stat.csv\n\nFields\n Name: \"uniprotkb_canonical_ac\"\n Description: \"\"\n Unique Values: \"16\"\n Name: \"motif_start\"\n Description: \"\"\n Unique Values: \"23\"\n Name: \"filter_flags\"\n Description: \"Filter tags/flags assigned to the mutation entries that have passed the mutation filter criteria\"\n Unique Values: \"19\"\n Name: \"sift_prediction\"\n Description: \"The SIFT qualitative prediction is derived from this score such that substitutions with a score < 0.05 are called 'deleterious' and all others are called 'tolerated\"\n Unique Values: \"3\"\n Name: \"somatic_status\"\n Description: \"The status of the variant whether it is germline (somatic status =0) or somatic (somatic status =1) variant\"\n Unique Values: \"1\"\n Name: \"chr_pos\"\n Description: \"Chromosome Position of a gene\"\n Unique Values: \"19\"\n Name: \"chr_id\"\n Description: \"\"\n Unique Values: \"10\"\n Name: \"dbsnp_id\"\n Description: \"\"A reference SNP ID number\"\n Unique Values: \"19\"\n Name: \"evidence_ECO:0000313\"\n Description: \"A type of evidence that is imported information used in an automatic assertion\"\n Unique Values: \"1\"\n Name: \"xref_id\"\n Description: \"ID of the X-ref\"\n Unique Values: \"19\"\n Name: \"mim_id\"\n Description: \"Disease ID from the OMIM database\"\n Unique Values: \"1\"\n Name: \"description\"\n Description: \"\"\n Unique Values: \"1\"\n Name: \"begin_aa_pos\"\n Description: \"Start position of the amino acid in the sequence of a protein in UniProtKB\"\n Unique Values: \"18\"\n Name: \"cytogenic_band\"\n Description: \"One of the subregions of a chromosome visible microscopically after special staining\"\n Unique Values: \"14\"\n Name: \"aa_pos\"\n Description: \"Position of the amino acid in canonical sequence of protein in the UniProtKB database\"\n Unique Values: \"18\"\n Name: \"ref_aa\"\n Description: \"Reference amino acid residue\"\n Unique Values: \"9\"\n Name: \"sift_score\"\n Description: \"SIFT predicts whether an amino acid substitution is likely to affect protein function based on sequence homology and the physico-chemical similarity between the alternate amino acids. The data we provide for each amino acid substitution is a score and a qualitative prediction (either 'tolerated' or 'deleterious'). The score is the normalized probability that the amino acid change is tolerated so scores nearer zero are more likely to be deleterious. The qualitative prediction is derived from this score such that substitutions with a score < 0.05 are called 'deleterious' and all others are called 'tolerated\"\n Unique Values: \"10\"\n Name: \"alt_motif\"\n Description: \"Altered motif\"\n Unique Values: \"24\"\n Name: \"disease_xrefs\"\n Description: \"\"\n Unique Values: \"1\"\n Name: \"polyphen_score\"\n Description: \"The score assigned to a amino acid substitution by a tool called as PolyPhen (=Polymorphism Phenotyping) which predicts possible impact of an amino acid substitution on the structure and function of a human protein using straightforward physical and comparative considerations. The PolyPhen score ranges from 0.0 (tolerated) to 1.0 (deleterious). Variants with scores of 0.0 are predicted to be benign. Values closer to 1.0 are more confidently predicted to be deleterious\"\n Unique Values: \"1\"\n Name: \"polyphen_prediction\"\n Description: \"\"The PolyPhen prediction values are - greater than 0.908 - \"\"Probably Damaging\"\"; greater than 0.446 and less than or equal to 0.908 - \"\"Possibly Damaging\"\"; less than or equal to 0.446 - \"\"Benign\"\"\"\n Unique Values: \"1\"\n Name: \"is_known_glycoprotein\"\n Description: \"Yes or no flag to denote if a protein is experimentally proven glycoprotein\"\n Unique Values: \"1\"\n Name: \"alt_nt\"\n Description: \"Alternative nucleotide\"\n Unique Values: \"1\"\n Name: \"protein_name\"\n Description: \"Protein name in the UniProtKB\"\n Unique Values: \"16\"\n Name: \"disease_evidence_ECO:0000313\"\n Description: \"The evidence that could be a PMID or a ClinVar ID that associates disease with the variant\"\n Unique Values: \"1\"\n Name: \"effect\"\n Description: \"The effect on glycosylation or N-sequon due to variation at site of glycosylated amino acid.\"\n Unique Values: \"3\"\n Name: \"end_aa_pos\"\n Description: \"End position of the amino acid in the sequence of a protein in UniProtKB\"\n Unique Values: \"18\"\n Name: \"mutation_type\"\n Description: \"Denotes whether mutation was reported with reference to amino acid or nucleotide\"\n Unique Values: \"1\"\n Name: \"disease_description\"\n Description: \"The disease description and/or definition \"\n Unique Values: \"1\"\n Name: \"do_id\"\n Description: \"Disease Ontology identifier\"\n Unique Values: \"1\"\n Name: \"evidence_ECO:0000269\"\n Description: \"A type of experimental evidence that is used in a manual assertion. Usually the values are PMIDs\"\n Unique Values: \"1\"\n Name: \"ref_nt\"\n Description: \"Reference nucleotide\"\n Unique Values: \"4\"\n Name: \"disease\"\n Description: \"The disease name for the cell line\"\n Unique Values: \"1\"\n Name: \"alt_aa\"\n Description: \"Altered amino acid residue\"\n Unique Values: \"10\"\n Name: \"cosmic_id\"\n Description: \"Legacy mutation identifier (COSM) in Catalogue of Somatic Mutations in Cancer (COSMIC) represents existing COSM mutation identifiers. This identifier remains the same between different assemblies (GRCh37 and GRCh38). All the COSM ids at the same genomic location have been collapsed into one representative COSM id. These ids are maintained to help track existing mutations\"\n Unique Values: \"1\"\n Name: \"ref_motif\"\n Description: \"Reference motif\"\n Unique Values: \"20\"\n Name: \"xref_key\"\n Description: \"Source key associated to the xref_id\"\n Unique Values: \"2\"\n Name: \"minor_allelic_frequency\"\n Description: \"\"\n Unique Values: \"1\"\n Name: \"gene_name\"\n Description: \"\"Official gene name/symbol assigned to the gene. Human gene name/symbol are approved by the HUGO Gene Nomenclature Committee (HGNC) and mouse gene name are approved by the Mouse Genome Informatics (MGI)\"\n Unique Values: \"17\"\n Name: \"disease_evidence_ECO:0000269\"\n Description: \"The PMID evidence for the association of the disease with the variant.\"\n Unique Values: \"1\"", "downloadurl": "/ln2data/releases/data/v-1.11.2/reviewed/human_proteoform_glycosylation_sites_o_glcnac_mcw.csv" }