{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001426199,0.0001359221,0.00015043,0.0000471699,0.0002463063,0.00005159426,0.0002015347,0.0001174424,0.0001051004],"category_scores_gemma":[0.0001118017,0.0001301337,0.0000844145,0.00003968363,0.0001407344,0.00001290002,0.00007347859,0.00008941029,0.00001065871],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001053683,"about_ca_system_score_gemma":0.00008774432,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001467488,"about_ca_topic_score_gemma":0.0001171007,"domain_scores_codex":[0.9990051,0.00004766424,0.000208818,0.0002722221,0.0002239604,0.0002422542],"domain_scores_gemma":[0.9990627,0.00000832975,0.0001053791,0.0005760823,0.0001528591,0.00009463458],"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":[0.0001278065,0.00001715266,0.004458033,0.00003391274,0.00004326666,0.00001499352,0.00004288791,0.0001970535,0.9912184,0.00002745976,0.0003248898,0.003494184],"study_design_scores_gemma":[0.0008045377,0.0002467076,0.07310332,0.00001358053,0.00001820597,0.00003524687,0.00002865861,0.0006125218,0.9236327,0.00005110431,0.001280074,0.000173374],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9962327,0.0003006184,0.002317555,0.0002424896,0.000217903,0.0002101473,0.00006203786,0.00001109164,0.0004054969],"genre_scores_gemma":[0.9981101,0.00004537869,0.00101821,0.00003655319,0.00029864,0.00001069314,0.000189997,0.0000237305,0.0002667465],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.06864529,"threshold_uncertainty_score":0.5306698,"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."}}