{"id":"W2618972001","doi":"10.1101/141622","title":"Mutations in disordered regions cause disease by creating endocytosis motifs","year":2017,"lang":"en","type":"preprint","venue":"bioRxiv (Cold Spring Harbor Laboratory)","topic":"Cellular transport and secretion","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"University of Toronto","keywords":"Biology; Transmembrane protein; Endocytosis; Mutation; Cytosol; Signal transducing adaptor protein; GLUT1; Cell biology; Transport protein; Genetics; Transmembrane domain; Computational biology; Gene; Glucose transporter; Biochemistry; Receptor","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001249112,0.0003330275,0.0002116184,0.0003478843,0.000162871,0.0002323007,0.0001437692,0.0003131781,0.001369427],"category_scores_gemma":[0.0001660803,0.0001116456,0.0002331383,0.0001760498,0.0002361953,0.00009895409,0.0002657664,0.000292213,0.0005125495],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001870809,"about_ca_system_score_gemma":0.00009004911,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0004110268,"about_ca_topic_score_gemma":0.0004884222,"domain_scores_codex":[0.9998722,0.00001908992,0.00001768586,0.00003144059,0.00003618424,0.0000234279],"domain_scores_gemma":[0.9998648,0.00003875693,0.00004284665,0.00001493948,0.00001245721,0.00002619873],"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":[0.0001086066,0.00001702939,0.003193292,0.00003573549,0.00002036794,0.0009581078,0.00001731189,0.0001047606,0.9939542,0.0001156127,0.00008095552,0.001393832],"study_design_scores_gemma":[0.00001600832,0.0000807297,0.03205858,0.000009950356,0.00004764125,0.007399895,0.00005175128,0.001612568,0.955921,0.0001588917,0.002636119,0.000006957799],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9966174,0.0004189921,0.001581129,0.00007368953,0.00001982534,0.00001194055,0.0003763018,0.0000773768,0.0008233124],"genre_scores_gemma":[0.9975006,0.0001391618,0.001465378,0.00004583632,0.000006588088,0.000003419097,0.0003158772,0.00002116116,0.0005020842],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001369427,"threshold_uncertainty_score":0.004581153,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01353800811083797,"score_gpt":0.2291036729465752,"score_spread":0.2155656648357373,"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."}}