{"id":"W2615568708","doi":"10.1016/j.gene.2017.05.041","title":"Structural annotation of Beta-1,4- N -acetyl galactosaminyltransferase 1 (B4GALNT1) causing Hereditary Spastic Paraplegia 26","year":2017,"lang":"en","type":"article","venue":"Gene","topic":"Glycosylation and Glycoproteins Research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":9,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of Toronto","funders":"Higher Education Commission, Pakistan","keywords":"Biology; Hereditary spastic paraplegia; In silico; Gene; Transmembrane domain; Peptide sequence; Signal peptide; Transmembrane protein; Genetics; Missense mutation; Biochemistry; Mutant; Mutation; Receptor; Phenotype","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001337929,0.0009941141,0.000680771,0.0009623125,0.0004821605,0.0005023465,0.0006445853,0.000665234,0.002135786],"category_scores_gemma":[0.0002977756,0.0002584649,0.0009162329,0.000795943,0.0002223462,0.0001794571,0.000300801,0.0005738211,0.001344617],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0007708152,"about_ca_system_score_gemma":0.0007565024,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003233033,"about_ca_topic_score_gemma":0.002609575,"domain_scores_codex":[0.9998918,0.00001555713,0.00001686772,0.00003274804,0.00002559965,0.00001741753],"domain_scores_gemma":[0.9997765,0.00003670319,0.00006482481,0.00001883795,0.00003738418,0.00006568497],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.001382723,0.0001800649,0.002894841,0.0004712429,0.00004660666,0.005618501,0.0001971873,0.001977539,0.9752836,0.000562899,0.001474342,0.009910519],"study_design_scores_gemma":[0.0003073042,0.001130626,0.07828265,0.0001948604,0.0006466236,0.008986397,0.0005517693,0.02391084,0.8162844,0.001052858,0.06850568,0.0001460485],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9766377,0.001890746,0.009372936,0.0003830508,0.0002260621,0.0001374153,0.008759762,0.0004117315,0.002180549],"genre_scores_gemma":[0.9338126,0.001620091,0.02122848,0.000166247,0.00007468041,0.00008725197,0.03817632,0.0001663521,0.004668096],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003233033,"threshold_uncertainty_score":0.007144928,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02690283644459173,"score_gpt":0.2983507045360445,"score_spread":0.2714478680914527,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}