{"id":"W4388854209","doi":"10.1038/s41598-023-46673-0","title":"Neuronal transcription of autism gene PTCHD1 is regulated by a conserved downstream enhancer sequence","year":2023,"lang":"en","type":"article","venue":"Scientific Reports","topic":"Hedgehog Signaling Pathway Studies","field":"Biochemistry, Genetics and Molecular Biology","cited_by":6,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children; University of Toronto; Centre for Addiction and Mental Health","funders":"Autism Science Foundation; Canadian Institutes of Health Research; Hospital for Sick Children; Autism Speaks","keywords":"Enhancer; Gene; Downstream (manufacturing); Transcription (linguistics); Conserved sequence; Biology; Sequence (biology); Computational biology; Genetics; Regulatory sequence; Transcription factor; Cell biology; Base sequence","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0006327131,0.0001463768,0.0001746952,0.00008045592,0.0001629802,0.00003986309,0.0001227674,0.000110192,0.00004548612],"category_scores_gemma":[0.00008735269,0.0001419219,0.0001158824,0.0004500892,0.0004049803,0.000006145193,0.00006398032,0.00005811812,0.00001601823],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001311415,"about_ca_system_score_gemma":0.000160111,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00003675551,"about_ca_topic_score_gemma":0.00001199943,"domain_scores_codex":[0.9981638,0.00005059922,0.0004371408,0.0007321103,0.0003287871,0.0002875683],"domain_scores_gemma":[0.998951,0.000007576894,0.0002077542,0.0006032164,0.0001553503,0.0000751181],"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":[0.00001184433,0.0000279401,0.0004667093,0.00002174527,0.00003724122,0.00004521501,0.0001861438,0.00003644911,0.9533048,0.000003272668,0.04542495,0.0004337539],"study_design_scores_gemma":[0.0001272195,0.00006091795,0.001132341,0.0000223413,0.00001709793,0.00004934952,0.00002861758,0.00007743314,0.9778497,0.0003574247,0.02013881,0.0001387772],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9968792,0.0004320841,0.0001439735,0.0002744427,0.001791742,0.000186533,0.00006643125,0.0000503126,0.0001753209],"genre_scores_gemma":[0.9933487,0.00004468027,0.0001186338,0.00005217965,0.00002965841,0.00002224181,0.0004604176,0.0000167116,0.005906815],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.02528613,"threshold_uncertainty_score":0.5787407,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02600784326238744,"score_gpt":0.2648405604919208,"score_spread":0.2388327172295333,"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."}}