{"id":"W4200186188","doi":"10.1101/2021.12.07.21266342","title":"De novo variants in the <i>PSMC3</i> proteasome AAA-ATPase subunit gene cause neurodevelopmental disorders associated with type I interferonopathies","year":2021,"lang":"en","type":"preprint","venue":"medRxiv","topic":"Ubiquitin and proteasome pathways","field":"Biochemistry, Genetics and Molecular Biology","cited_by":3,"is_retracted":false,"has_abstract":true,"ca_institutions":"Children's Hospital of Eastern Ontario; Women and Children’s Health Research Institute; University of Ottawa; University of Alberta; Université Laval; McGill University Health Centre","funders":"National Institutes of Health; Simons Foundation; Deutsche Forschungsgemeinschaft; Austrian Science Fund; E-Rare; Simons Foundation Autism Research Initiative; Howard Hughes Medical Institute","keywords":"Proteasome; Biology; AAA proteins; Ubiquitin; Proteostasis; Innate immune system; Protein subunit; Genetics; Protein degradation; Unfolded protein response; Cell biology; Gene; ATPase; Immune system; Biochemistry","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":[0.0001377186,0.0007205132,0.0002130851,0.0005385913,0.0002865662,0.0002109906,0.0001989986,0.000567854,0.002678414],"category_scores_gemma":[0.0003995638,0.0001105165,0.000314587,0.0002792059,0.0004161296,0.0001100169,0.0002832248,0.0004157771,0.0003796378],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002225031,"about_ca_system_score_gemma":0.0001375474,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0007616327,"about_ca_topic_score_gemma":0.0006524589,"domain_scores_codex":[0.9998579,0.00001745797,0.00002197739,0.00004115306,0.00003990076,0.00002163035],"domain_scores_gemma":[0.9997789,0.00006116183,0.00008487586,0.00001782192,0.00001721346,0.00004004261],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.001370943,0.0001278617,0.133838,0.0001304747,0.0002911622,0.07521728,0.0005245201,0.0006150139,0.7706611,0.001341705,0.001362075,0.01451984],"study_design_scores_gemma":[0.0001354732,0.0005129433,0.4555872,0.00007247322,0.0003742959,0.169311,0.0004259629,0.002178983,0.3596175,0.001353723,0.01038814,0.00004235913],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9957066,0.000370751,0.002025654,0.0001208241,0.0000415994,0.00001546675,0.0006991177,0.00008654676,0.0009334018],"genre_scores_gemma":[0.998036,0.0001194645,0.0007417268,0.00004106024,0.00002534655,0.000005685462,0.0003240869,0.00002310855,0.0006836135],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002678414,"threshold_uncertainty_score":0.008960247,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01984970572426168,"score_gpt":0.2393116561243414,"score_spread":0.2194619504000797,"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."}}