{ "bcoid": "GLY_000256", "title": "Human Protein Citations (RefSeq)", "description": "The Human Protein Citations (RefSeq) datasets contains human [taxid:9606] UniProtKB accessions mapped ...", "filename": "human_protein_citations_refseq.csv", "filetype": "csv", "categories": { "species": "Homo sapiens", "molecule": "Protein", "tags": "Protein Citations", "file_type": "csv", "status": "Reviewed", "scope": "internal" }, "minitable": { "content": [ [ "Q8TCY9-1...", "SP1 is a tra..." ], [ "Q7KZI7-1...", "High-Molecul..." ] ], "headers": [ "uniprotkb_ca...", "title..." ], "colwidth": [ "40%", "20%" ] }, "sampledata": { "type": "table", "data": [ [ { "type": "string", "label": "uniprotkb_canonical_ac" }, { "type": "string", "label": "title" }, { "type": "string", "label": "journal_name" }, { "type": "string", "label": "publication_date" }, { "type": "string", "label": "authors" }, { "type": "string", "label": "xref_key" }, { "type": "string", "label": "xref_id" }, { "type": "string", "label": "src_xref_key" }, { "type": "string", "label": "src_xref_id" } ], [ "Q8TCY9-1", "SP1 is a transcriptional regulator of URG-4/URGCP gene in hepatocytes.", "Molecular and cellular biochemistry", "2016 Dec", "Tokay E, Kockar F", "protein_xref_pubmed", "27766531", "protein_xref_refseq", "NP_001071131.1" ], [ "Q7KZI7-1", "High-Molecular-Weight Hyaluronan Is a Hippo Pathway Ligand Directing Cell Density-Dependent Growth Inhibition via PAR1b.", "Developmental cell", "2019 May 20", "Ooki T, Murata-Kamiya N, Takahashi-Kanemitsu A, Wu W, Hatakeyama M", "protein_xref_pubmed", "31080060", "protein_xref_refseq", "NP_001034558.2" ], [ "O14681-1", "Reduced expression of EI24 confers resistance to gefitinib through IGF-1R signaling in PC9 NSCLC cells.", "Lung cancer (Amsterdam, Netherlands)", "2015 Nov", "Choi JM, Jang JY, Choi YR, Kim HR, Cho BC, Lee HW", "protein_xref_pubmed", "26342551", "protein_xref_refseq", "NP_001277064.1" ], [ "P78352-1", "Ligand-dependent intra- and interdomain motions in the PDZ12 tandem regulate binding interfaces in postsynaptic density protein-95.", "FEBS letters", "2020 Mar", "Kovacs B, Zajacz-Epresi N, Gaspari Z", "protein_xref_pubmed", "31562775", "protein_xref_refseq", "NP_001122299.1" ], [ "Q17RY0-1", "CPEB1 or CPEB4 knockdown suppresses the TAK1 and Smad signalings in THP-1 macrophage-like cells and dermal fibroblasts.", "Archives of biochemistry and biophysics", "2020 Apr 15", "Cui HS, Joo SY, Cho YS, Kim JB, Seo CH", "protein_xref_pubmed", "32113875", "protein_xref_refseq", "NP_001295120.1" ], [ "P16619-1", "Differential recognition and scavenging of native and truncated macrophage-derived chemokine (macrophage-derived chemokine/CC chemokine ligand 22) by the D6 decoy receptor.", "Journal of immunology (Baltimore, Md. : 1950)", "2004 Apr 15", "Bonecchi R, Locati M, Galliera E, Vulcano M, Sironi M, Fra AM, Gobbi M, Vecchi A, Sozzani S, Haribabu B, Van Damme J, Mantovani A", "protein_xref_pubmed", "15067078", "protein_xref_refseq", "NP_001001437.2" ], [ "Q99439-1", "Lentivirus-mediated shRNA Targeting CNN2 Inhibits Hepatocarcinoma in Vitro and in Vivo.", "International journal of medical sciences", "2018", "Kang X, Wang F, Lan X, Li X, Zheng S, Lv Z, Zhuang Y, Zhao Y, Zhou S", "protein_xref_pubmed", "29333089", "protein_xref_refseq", "NP_001290430.1" ], [ "P49721-1", "Microsequences of 145 proteins recorded in the two-dimensional gel protein database of normal human epidermal keratinocytes.", "Electrophoresis", "1992 Dec", "Rasmussen HH, van Damme J, Puype M, Gesser B, Celis JE, Vandekerckhove J", "protein_xref_pubmed", "1286667", "protein_xref_refseq", "NP_001186709.1" ], [ "Q12951-1", "Chromosomal localization of six human forkhead genes, freac-1 (FKHL5), -3 (FKHL7), -4 (FKHL8), -5 (FKHL9), -6 (FKHL10), and -8 (FKHL12).", "Genomics", "1995 Dec 10", "Larsson C, Hellqvist M, Pierrou S, White I, Enerback S, Carlsson P", "protein_xref_pubmed", "8825632", "protein_xref_refseq", "NP_036320.2" ], [ "P58417-1", "Structure and evolution of neurexophilin.", "The Journal of neuroscience : the official journal of the Society for Neuroscience", "1996 Jul 15", "Petrenko AG, Ullrich B, Missler M, Krasnoperov V, Rosahl TW, Sudhof TC", "protein_xref_pubmed", "8699246", "protein_xref_refseq", "NP_689958.1" ], [ "Q9NYJ8-1", "Associations between TAB2 Gene Polymorphisms and Epithelial Ovarian Cancer in a Chinese Population.", "Disease markers", "2019", "Huang X, Shen C, Zhang Y, Li Q, Li K, Wang Y, Song Y, Su M, Zhou B, Wang W", "protein_xref_pubmed", "31485280", "protein_xref_refseq", "NP_001278963.1" ], [ "P55008-1", "Iba-1-/CD68+ microglia are a prominent feature of age-associated deep subcortical white matter lesions.", "PloS one", "2019", "Waller R, Baxter L, Fillingham DJ, Coelho S, Pozo JM, Mozumder M, Frangi AF, Ince PG, Simpson JE, Highley JR", "protein_xref_pubmed", "30682074", "protein_xref_refseq", "NP_001305899.1" ], [ "Q5ZPR3-1", "Characterization of mouse and human B7-H3 genes.", "Journal of immunology (Baltimore, Md. : 1950)", "2002 Jun 15", "Sun M, Richards S, Prasad DV, Mai XM, Rudensky A, Dong C", "protein_xref_pubmed", "12055244", "protein_xref_refseq", "NP_001019907.1" ], [ "Q9ULJ6-1", "Upregulated circZMIZ1 promotes the proliferation of prostate cancer cells and is a valuable marker in plasma.", "Neoplasma", "2020 Jan", "Jiang H, Lv DJ, Song XL, Wang C, Yu YZ, Zhao SC", "protein_xref_pubmed", "31686520", "protein_xref_refseq", "NP_065071.1" ], [ "Q8N1I0-1", "Up-regulated cytotrophoblast DOCK4 contributes to over-invasion in placenta accreta spectrum.", "Proceedings of the National Academy of Sciences of the United States of America", "2020 Jul 7", "McNally L, Zhou Y, Robinson JF, Zhao G, Chen LM, Chen H, Kim MY, Kapidzic M, Gormley M, Hannibal R, Fisher SJ", "protein_xref_pubmed", "32576693", "protein_xref_refseq", "NP_055520.3" ], [ "P11473-1", "A single receptor identical with that from intestine/T47D cells mediates the action of 1,25-dihydroxyvitamin D-3 in HL-60 cells.", "Biochimica et biophysica acta", "1992 Aug 17", "Goto H, Chen KS, Prahl JM, DeLuca HF", "protein_xref_pubmed", "1324736", "protein_xref_refseq", "NP_000367.1" ], [ "Q96DM3-1", "Systematic Analysis of Human Cells Lacking ATG8 Proteins Uncovers Roles for GABARAPs and the CCZ1/MON1 Regulator C18orf8/RMC1 in Macroautophagic and Selective Autophagic Flux.", "Molecular and cellular biology", "2018 Jan 1", "Vaites LP, Paulo JA, Huttlin EL, Harper JW", "protein_xref_pubmed", "29038162", "protein_xref_refseq", "NP_001305636.1" ], [ "Q8N1G0-1", "ZNF687 mutations are frequently found in pagetic patients from South Italy: implication in the pathogenesis of Paget's disease of bone.", "Clinical genetics", "2018 Jun", "Divisato G, Scotto di Carlo F, Petrillo N, Esposito T, Gianfrancesco F", "protein_xref_pubmed", "29493781", "protein_xref_refseq", "NP_001291692.1" ], [ "Q9UEE5-1", "A germline-specific class of small RNAs binds mammalian Piwi proteins.", "Nature", "2006 Jul 13", "Girard 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United States of America", "2020 May 5", "Tom I, Pham VC, Katschke KJ Jr, Li W, Liang WC, Gutierrez J, Ah Young A, Figueroa I, Eshghi ST, Lee CV, Kanodia J, Snipas SJ, Salvesen GS, Lai P, Honigberg L, van Lookeren Campagne M, Kirchhofer D, Baruch A, Lill JR", "protein_xref_pubmed", "32345717", "protein_xref_refseq", "NP_002766.1" ], [ "Q8WW38-1", "Transcriptional cofactors of the FOG family interact with GATA proteins by means of multiple zinc fingers.", "The EMBO journal", "1999 May 17", "Fox AH, Liew C, Holmes M, Kowalski K, Mackay J, Crossley M", "protein_xref_pubmed", "10329627", "protein_xref_refseq", "NP_036214.2" ], [ "P62942-1", "FKBP12 mediates necroptosis by initiating RIPK1-RIPK3-MLKL signal transduction in response to TNF receptor 1 ligation.", "Journal of cell science", "2019 May 20", "Wang Z, Feng J, Yu J, Chen G", "protein_xref_pubmed", "31028177", "protein_xref_refseq", "NP_001186715.1" ], [ "Q9BRZ2-1", "The ubiquitin ligase TRIM56 regulates innate immune responses to intracellular double-stranded DNA.", "Immunity", "2010 Nov 24", "Tsuchida T, Zou J, Saitoh T, Kumar H, Abe T, Matsuura Y, Kawai T, Akira S", "protein_xref_pubmed", "21074459", "protein_xref_refseq", "NP_112223.1" ], [ "A8K4G0-1", "Lipopolysaccharide-Induced CD300b Receptor Binding to Toll-like Receptor 4 Alters Signaling to Drive Cytokine Responses that Enhance Septic Shock.", "Immunity", "2016 Jun 21", "Voss OH, Murakami Y, Pena MY, Lee HN, Tian L, Margulies DH, Street JM, Yuen PS, Qi CF, Krzewski K, Coligan JE", "protein_xref_pubmed", "27261276", "protein_xref_refseq", "NP_777552.3" ], [ "Q8TD16-1", "The Genotypic and Phenotypic Spectrum of BICD2 Variants in Spinal Muscular Atrophy.", "Annals of neurology", "2020 Apr", "Koboldt DC, Waldrop MA, Wilson RK, Flanigan KM", "protein_xref_pubmed", "32057122", "protein_xref_refseq", "NP_001003800.1" ], [ "P59534-1", "Evaluation of the bitterness of green tea catechins by a cell-based assay with the human bitter taste receptor hTAS2R39.", 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Binding to IKKepsilon.", "Frontiers in cellular and infection microbiology", "2020", "Fang P, Fang L, Xia S, Ren J, Zhang J, Bai D, Zhou Y, Peng G, Zhao S, Xiao S", "protein_xref_pubmed", "32656094", "protein_xref_refseq", "NP_001180250.1" ], [ "O60741-1", "CCG repeats in cDNAs from human brain.", "Human genetics", "1998 Dec", "Kleiderlein JJ, Nisson PE, Jessee J, Li WB, Becker KG, Derby ML, Ross CA, Margolis RL", "protein_xref_pubmed", "9921901", "protein_xref_refseq", "NP_066550.2" ], [ "Q6P1N0-1", "The CC2D1A, a member of a new gene family with C2 domains, is involved in autosomal recessive non-syndromic mental retardation.", "Journal of medical genetics", "2006 Mar", "Basel-Vanagaite L, Attia R, Yahav M, Ferland RJ, Anteki L, Walsh CA, Olender T, Straussberg R, Magal N, Taub E, Drasinover V, Alkelai A, Bercovich D, Rechavi G, Simon AJ, Shohat M", "protein_xref_pubmed", "16033914", "protein_xref_refseq", "NP_060191.3" ], [ "Q8WTX7-1", "Transmembrane 4 L Six Family Member 5 Senses 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Molecular cell research", "2019 May", "Zhang J, Zhang K, Qi L, Hu Q, Shen Z, Liu B, Deng J, Zhang C, Zhang Y", "protein_xref_pubmed", "30771381", "protein_xref_refseq", "NP_001290040.1" ], [ "P23515-1", "Alterations in oligodendrocyte proteins, calcium homeostasis and new potential markers in schizophrenia anterior temporal lobe are revealed by shotgun proteome analysis.", "Journal of neural transmission (Vienna, Austria : 1996)", "2009 Mar", "Martins-de-Souza D, Gattaz WF, Schmitt A, Rewerts C, Marangoni S, Novello JC, Maccarrone G, Turck CW, Dias-Neto E", "protein_xref_pubmed", "19034380", "protein_xref_refseq", "NP_002535.3" ], [ "Q7Z5L4-1", "Spata19 is critical for sperm mitochondrial function and male fertility.", "Molecular reproduction and development", "2015 Nov", "Mi Y, Shi Z, Li J", "protein_xref_pubmed", "26265198", "protein_xref_refseq", "NP_001278921.1" ], [ "Q9NQS1-1", "Expression of granulosa cell microRNAs, AVEN and ATRX are associated with human blastocyst development.", "Molecular reproduction and development", "2018 Nov", "O'Doherty AM, O'Brien YM, Browne JA, Wingfield M, O'Shea LC", "protein_xref_pubmed", "29693772", "protein_xref_refseq", "NP_065104.1" ], [ "Q9HCT0-1", "Highly efficient production of functional recombinant human fibroblast growth factor 22 in E. coli and its protective effects on H2O2-lesioned L02cells.", "Protein expression and purification", "2018 Dec", "Yang H, Tian H, Cheng J, Zheng J, Wang D, Sun C, Fernig D, Chen T, Gong W, Wang S, Li X, Jiang C", "protein_xref_pubmed", "29627393", "protein_xref_refseq", "NP_065688.1" ], [ "P85299-1", "Proteome-wide analysis of phospho-regulated PDZ domain interactions.", "Molecular systems biology", "2018 Aug 20", "Sundell GN, Arnold R, Ali M, Naksukpaiboon P, Orts J, Guntert P, Chi CN, Ivarsson Y", "protein_xref_pubmed", "30126976", "protein_xref_refseq", "NP_001017528.1" ], [ "Q9NX24-1", "Cryo-EM structure of substrate-bound human telomerase holoenzyme.", "Nature", "2018 May", "Nguyen THD, Tam J, Wu RA, Greber BJ, Toso D, Nogales E, Collins K", "protein_xref_pubmed", "29695869", "protein_xref_refseq", "NP_001030005.1" ], [ "Q9NPP4-1", "Identification of Ipaf, a human caspase-1-activating protein related to Apaf-1.", "The Journal of biological chemistry", "2001 Jul 27", "Poyet JL, Srinivasula SM, Tnani M, Razmara M, Fernandes-Alnemri T, Alnemri ES", "protein_xref_pubmed", "11390368", "protein_xref_refseq", "NP_001186067.1" ], [ "Q12934-1", "Molecular and structural analysis of genetic variations in congenital cataract.", "Molecular vision", "2013", "Kumar M, Agarwal T, Kaur P, Kumar M, Khokhar S, Dada R", "protein_xref_pubmed", "24319337", "protein_xref_refseq", "NP_001155177.1" ], [ "Q96S59-1", "Scaffolding protein RanBPM and its interactions in diverse signaling pathways in health and disease.", "Discovery medicine", "2018 Apr", "Das S, Haq S, Ramakrishna S", "protein_xref_pubmed", "29723489", "protein_xref_refseq", "NP_005484.2" ], [ "Q6PRD7-1", "Cementum protein 1 (CEMP1) induces a cementoblastic phenotype and reduces osteoblastic differentiation in periodontal ligament cells.", "Journal of cellular physiology", "2012 Feb", "Komaki M, Iwasaki K, Arzate H, Narayanan AS, Izumi Y, Morita I", "protein_xref_pubmed", "21465469", "protein_xref_refseq", "NP_001041677.1" ], [ "Q5DT21-1", "Expression and regulation of murine SPINK12, a potential orthologue of human LEKTI2.", "Experimental dermatology", "2011 Nov", "Reiss K, Meyer-Hoffert U, Fischer J, Sperrhacke M, Wu Z, Dimitrieva O, Krenek P, Suchanova S, Buryova H, Brauer R, Sedlacek R", "protein_xref_pubmed", "21899598", "protein_xref_refseq", "NP_001035523.1" ], [ "Q8IYT3-1", "Replication of previous genome-wide association studies of bone mineral density in premenopausal American women.", "Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research", "2010 Aug", "Ichikawa S, Koller DL, Padgett LR, Lai D, Hui SL, Peacock M, Foroud T, Econs MJ", "protein_xref_pubmed", "20200978", "protein_xref_refseq", "NP_079335.2" ], [ "Q96KK5-1", "MHC class II-associated proteins in B-cell exosomes and potential functional implications for exosome biogenesis.", "Immunology and cell biology", "2010 Nov-Dec", "Buschow SI, van Balkom BW, Aalberts M, Heck AJ, Wauben M, Stoorvogel W", "protein_xref_pubmed", "20458337", "protein_xref_refseq", "NP_542163.1" ], [ "Q8TF76-1", "A kinase-dependent role for Haspin in antagonizing Wapl and protecting mitotic centromere cohesion.", "EMBO reports", "2018 Jan", "Liang C, Chen Q, Yi Q, Zhang M, Yan H, Zhang B, Zhou L, Zhang Z, Qi F, Ye S, Wang F", "protein_xref_pubmed", "29138236", "protein_xref_refseq", "NP_114171.2" ], [ "P20366-1", "Plasma Neurokinin A Levels Predict Survival in Well-Differentiated Neuroendocrine Tumors of the Small Bowel.", "Pancreas", "2018 Aug", "Woltering EA, Voros BA, Thiagarajan R, Beyer DT, Ramirez RA, Wang YZ, Mamikunian G, Boudreaux JP", "protein_xref_pubmed", "29939909", "protein_xref_refseq", "NP_003173.1" ], [ "Q9H205-1", "Genomic analysis of orthologous mouse and human olfactory receptor loci.", "Proceedings of the National Academy of Sciences of the United States of America", "2001 Jun 19", "Lane RP, Cutforth T, Young J, Athanasiou M, Friedman C, Rowen L, Evans G, Axel R, Hood L, Trask BJ", "protein_xref_pubmed", "11416212", "protein_xref_refseq", "NP_001004489.1" ], [ "Q9H2Y9-1", "Specific expression of OATPs in primary small cell lung cancer (SCLC) cells as novel biomarkers for diagnosis and therapy.", "Cancer letters", "2015 Jan 28", "Brenner S, Klameth L, Riha J, Scholm M, Hamilton G, Bajna E, Ausch C, Reiner A, Jager W, Thalhammer T, Buxhofer-Ausch V", "protein_xref_pubmed", "25301452", "protein_xref_refseq", "NP_001139480.1" ], [ "Q9GZX5-1", "Functional Evaluation of ZNF350 Missense Genetic Variants Associated with Breast Cancer Susceptibility.", "DNA and cell biology", "2018 Jun", "Zhang N, Lu Y, Liu X, Yu D, Lv Z, Yang M", "protein_xref_pubmed", "29653063", "protein_xref_refseq", "NP_067645.3" ], [ "Q04864-1", "Selection of optimal kappa B/Rel DNA-binding motifs: interaction of both subunits of NF-kappa B with DNA is required for transcriptional activation.", "Molecular and cellular biology", "1992 Oct", "Kunsch C, Ruben SM, Rosen CA", "protein_xref_pubmed", "1406630", "protein_xref_refseq", "NP_001278675.1" ], [ "P78410-1", "The cluster of BTN genes in the extended major histocompatibility complex.", "Genomics", "2001 Feb 1", "Rhodes DA, Stammers M, Malcherek G, Beck S, Trowsdale J", "protein_xref_pubmed", "11170752", "protein_xref_refseq", "NP_001184175.1" ], [ "Q13319-1", "Hyper-phosphorylation of Rb S249 together with CDK5R2/p39 overexpression are associated with impaired cell adhesion and epithelial-to-mesenchymal transition: Implications as a potential lung cancer grading and staging biomarker.", "PloS one", "2018", "Perez-Morales J, Mejias-Morales D, Rivera-Rivera S, Gonzalez-Flores J, Gonzalez-Loperena M, Cordero-Baez FY, Pedreira-Garcia WM, Chardon-Colon C, Caban-Rivera J, Cress WD, Gordian ER, Munoz-Antonia T, Cabrera-Rios M, Isidro A, Coppola D, Rosa M, Boyle TA, Izumi V, Koomen JM, Santiago-Cardona PG", "protein_xref_pubmed", "30452490", "protein_xref_refseq", "NP_003927.1" ] ] }, "readme": "Name\n - Human Protein Citations (RefSeq)\n\nVersion\n - 1.11.2\n\nCreated on\n - 2019-09-06T14:06:38.983152\n\nModified on\n - 2022-01-19T13:30:40.606530\n\nCreated by\n - Jeet Vora [jeetvora@gwu.edu], Rahi Navelkar [rsn13@gwu.edu], Robel Kahsay [rykahsay@gwu.edu], Xavier Holmes [xavierh@email.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 - Not Applicable []\n\nChecksum\n - \n\nUsability Domain\n - The Human Protein Citations (RefSeq) datasets contains human [taxid:9606] UniProtKB accessions mapped to publication information (PMID, title, journal name, publication, date, authors of corresponding RefSeq accessions). The dataset is derived from NCBI RefSeq Release 96, September 9, 2019. If you use this dataset please provide proper attribution to NCBI RefSeq and GlyGen. \n\nDescription Domain\n Keywords\n - PMID\n - journal\n - citations\n - authors\n - RefSeq\n - PubMed\n\n Pipeline Steps\n - Step-1: The script parses the NCBI RefSeq gpff files to extract the publication information. The script also maps RefSeq accessions to the UniProtKB Canonical accessions. \n\nExecution Domain\n Scripts - https://github.com/GW-HIVE/glygen-backend-integration/blob/master/pipeline/integrator/make-protein-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: refseq_protein_all_9606.gpff\n URI: https://data.glygen.org/ln2data/releases/data/v-1.11.2/source/refseq_protein_all_9606.gpff\n Name: human_protein_xref_refseq.csv\n URI: https://data.glygen.org/ln2data/releases/data/v-1.11.2/reviewed/human_protein_xref_refseq.csv\n Output Subdomain\n Name: human_protein_citations_refseq.csv\n URI: http://data.glygen.org/ln2data/releases/data/v-1.11.2/reviewed/human_protein_citations_refseq.csv\n Name: human_protein_citations_refseq.stat.csv\n URI: http://data.glygen.org/ln2data/releases/data/v-1.11.2/reviewed/human_protein_citations_refseq.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_protein_citations_refseq.csv" }