{"id":"W1980133351","doi":"10.1002/humu.21215","title":"Disruption of OTC promoter-enhancer interaction in a patient with symptoms of ornithine carbamoyltransferase deficiency","year":2010,"lang":"en","type":"article","venue":"Human Mutation","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":18,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of British Columbia","funders":"","keywords":"Enhancer; Biology; Promoter; Molecular biology; Genetics; Ornithine Carbamoyltransferase; Transcription factor; Reporter gene; Regulatory sequence; Transcription (linguistics); Untranslated region; Gene; Gene expression; Ornithine; Messenger RNA; Arginine; Amino acid","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":[0.00007285055,0.00007212873,0.00008758173,0.00006372855,0.0000197264,0.000004382242,0.00004521103,0.00005358316,0.00003824874],"category_scores_gemma":[0.00001494644,0.0000619027,0.00002483877,0.00007854898,0.00005302008,0.000006348344,0.000007992719,0.0000580352,5.751245e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000001972471,"about_ca_system_score_gemma":0.0000207799,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00008175721,"about_ca_topic_score_gemma":0.000778131,"domain_scores_codex":[0.9994401,0.00002637721,0.000208672,0.0001494391,0.00009984322,0.0000755529],"domain_scores_gemma":[0.9996635,0.000002655088,0.0001002131,0.0001345734,0.000081136,0.00001796228],"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":[0.00008875416,0.0001763872,0.004450097,0.00004968728,0.000007352466,9.215393e-7,0.0008225191,0.0002780727,0.977132,0.0001808188,0.000002340575,0.01681104],"study_design_scores_gemma":[0.001170243,0.001245483,0.1341564,0.00004180603,0.00003154507,0.00001434269,0.0005063333,0.0001426037,0.8621559,0.0001961134,0.0001799839,0.0001592464],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9978755,0.00005589762,0.001238343,0.00001036602,0.0000799297,0.0001956821,0.000007252158,0.000002809383,0.0005342162],"genre_scores_gemma":[0.9995499,0.00000600996,0.0002452887,0.000006217081,0.00001639911,0.00002123253,0.0001311331,0.000007993145,0.00001588736],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1297063,"threshold_uncertainty_score":0.2524319,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.00518225214367053,"score_gpt":0.2512028972452272,"score_spread":0.2460206451015566,"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."}}