Table 1 Differentially expressed genes upon QPRT-KO with |log2FC| > 2.5
Gene | Chr | del268T vs eCtrl | ins395A vs eCtrl | WT vs eCtrl | SFARI score | ASD literature | |||
|---|---|---|---|---|---|---|---|---|---|
FDR | log2FC | FDR | log2FC | FDR | log2FC | ||||
COX17 | 3q13.33 | 3.33E−138 | − 5.94 | 1.78E−154 | − 5.63 | 0.30 | − 0.13 | / | / |
GUCA1A | 6p21.1 | 4.56E−41 | − 5.38 | 3.97E−46 | − 5.88 | 0.20 | 0.26 | / | / |
COX17P1 | 13q14.13 | 1.09E−84 | − 5.19 | 5.82E−93 | − 5.28 | 0.59 | − 0.11 | / | / |
VSTM2A | 7p11.2 | 1.81E−10 | − 5.00 | 6.36E−12 | − 5.28 | 0.61 | − 0.27 | / | / |
KCNQ3 | 8q24.22 | 5.77E−04 | − 4.76 | 1.25E03 | − 3.04 | 0.46 | 0.49 | 3 | Role for KCNQ3 in epilepsy and autism [75] |
CCK | 3p22.1 | 2.56E−04 | − 3.18 | 5.97E−05 | − 3.13 | 0.17 | 0.68 | / | Candidate gene for Asperger’s in a microdeletion case study [76] |
GABRB3 | 15q12 | 3.04E−43 | − 3.00 | 9.43E−54 | − 3.58 | 0.80 | 0.04 | 2 | CNV Chr15q11-13 implicated in ASD; polymorphisms associated with ASD [62, 77] |
BRINP1 | 9q33.1 | 8.93E−09 | − 2.92 | 2.09E−09 | − 2.85 | 0.20 | − 0.53 | / | −/− mice: autism-like behavior including reduced sociability and altered vocalization [78] |
LINC01760 | 1p21.3 | 1.02E−02 | 2.74 | 4.93E−03 | 2.62 | 0.95 | − 0.30 | / | / |
SNTG2 | 2p25.3 | 7.04E−04 | − 2.71 | 5.06E−07 | − 5.58 | 0.72 | 0.22 | 4 | Region linked with ID [64], associated with ASD [65]; interaction partner of neuroligins, interaction altered by ASD associated mutations [66] |
ARHGAP20 | 11q23.1 | 1.63E−09 | − 2.65 | 4.08E−15 | − 3.93 | 0.45 | − 0.30 | / | / |
SRRM4 | 12q24.23 | 1.29E−18 | − 2.61 | 2.25E−26 | − 3.40 | 0.54 | − 0.20 | / | −/+ mice: multiple autistic-like features [79] |