Table 1. Human CNVs, candidate (bold) and control genes, and their respective Drosophila orthologues.
| CNV Identity | Chr | Start | End | CNV Type | Human Candidate genes | Drosophila Orthologues of candidate genes | Figure |
|---|---|---|---|---|---|---|---|
| 11079_chr3_loss_197208363_l | 3 | 197208363 | 198838422 | Loss | Phosphate Cytidylyltransferase 1, Choline, Alpha (PCYT1A) | fsn | 3 |
| Discs large 1 (DLG1) | Discs large (dlg) | 3 | |||||
| p21-activated kinase 2 (PAK2) | p21-activated kinases (Pak) | 3 | |||||
| LOC220729 | CG5359 | 3 | |||||
| 12289_chr5_loss_11403621_l | 5 | 11403621 | 11493124 | Loss | catenin delta 2 (CTNND2) | p10 catenin (p120ctn) | 2 |
| 1946_301_chr9_gain_138505259 | 9 | 138505259 | 139336068 | Gain | Notch1 | Notch (N) | 2 |
| 12235_chr9_gain_129907917_l | 9 | 129907917 | 130512360 | Gain | Dynamin-1 (DNM1) | dynamin/shibire (shib) | 5 |
| Prostaglandin E Synthase 2 (PTGES2) | su(p) | 5 | |||||
| SWI5 Recombination Repair Homolog (SWI5) | CG14104 | 5 | |||||
| alpha-Spectrin (SPTAN1) | alpha-Spectrin (a-spec) | 5 | |||||
| 12239_chr22_loss_17249508_l | 22 | 17249508 | 18693261 | Loss | T-box 1 (TBX1) | optomotor-blind-related-gene-1 (orbg-1) | 4 |
| Guanine nucleotide-binding protein subunit beta-like protein 1 (GNB1L) | CG13192 | 4 | |||||
| histone cell cycle regulator (HIRA) | hira | 4 | |||||
| solute carrier family 25 (SLC25A1) | sea | 4 | |||||
| Zinc finger, DHHC-type containing 8 (ZDHHC8) | CG34449 | 4 | |||||
| George syndrome critical region gene 8 (DGCR8) | partner of drosha (pasha) | 4 | |||||
| Septin 5 (SEPT5) | Septin 4 (Sept4) | 4 | |||||
| 12691.p1_chr16_loss_68529466_s | 16 | 68529466 | 71494580 | Loss | VAC14 | CG5608 | S1 |
| PH domain and leucine rich repeat protein phosphatase-like (PHLPPL) | PH domain leucine-rich repeat protein phosphatase | S1 | |||||
| Splicing factor 3B subunit 3 (SF3B3) | CG13900 | S1 | |||||
| Calbindin 2 (CALB2) | Calbindin 53E (cbn) | S1 | |||||
| tyrosine aminotransferase (TAT) | CG5608 | S1 | |||||
| C-type lectin domain family 18, member C (CLEC18C) | CG3626 | S1 | |||||
| AP1G1 adaptor-related protein complex 1, gamma 1 subunit (AP1G1) | AP-1γ | S1 | |||||
| Dihydroorotate dehydrogenase (DHODH) | Dihydroorotate dehydrogenase (dhod) | S1 |
CNVs were selected from previous studies that identified de novo or rare CNVs in the genomes of individuals with ASD (see Methods). CNVs post-fixed “_1” were taken from the study by Levy et al. [28], CNVs post-fixed “_s” were taken from the study by Sanders et al.[29], while the CNV 1946_301_chr9_gain_138505259 was taken from the AGP study [5]. The candidate and control genes were among those genes affected by the given CNV: The protein products of the candidate genes interacted in a previously identified network of interacting proteins associated with neural functioning, while the control genes’ protein products are expressed embryonically and neuronally.