Suggested Autism Candidate Gene List
- We used 46 non-syndromic genes from the SPARK (Simons Foundation Powering Autism Research for Knowledge) gene list(please see the webpage) as the benchmark dataset. We excluded the syndromic gene according to the known sydromic gene list collected in AutismKB1.0 recommended by professionals.
- Only the genes with total score larger than 16.
SPARK (Simons Foundation Powering Autism Research for Knowledge) - PMID: 29420931(SPARK: A US Cohort of 50,000 Families to Accelerate Autism Research, Neuron, 97, 488–493.)
| Gene ID | Gene Symbol | Band | Syndromic Autism | Evidence Score | Total Score | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| GWAS | CNV | Linkage | Association | Expression | NGS de novo Mutation | NGS Mosaic SNV | NGS Other | Low-Scale Gene Studies | |||||
| AutG55870 | ASH1L | 1q22 | No | 0 | 1 | 0 | 0 | 0 | 1 | 0 | 1 | 0 | 20 |
| AutG54584 | GNB1L | 22q11.21 | No | 1 | 2 | 1 | 0 | 0 | 0 | 0 | 0 | 1 | 20 |
| AutG283375 | SLC39A5 | 12q13.3 | No | 0 | 0 | 0 | 0 | 0 | 2 | 0 | 0 | 0 | 20 |
| AutG196385 | DNAH10 | 12q24.31 | No | 0 | 0 | 0 | 0 | 0 | 1 | 1 | 1 | 0 | 19 |
| AutG6262 | RYR2 | 1q43 | No | 1 | 1 | 1 | 0 | 1 | 1 | 0 | 0 | 0 | 19 |
| AutG2571 | GAD1 | 2q31.1 | No | 0 | 0 | 2 | 2 | 1 | 0 | 0 | 0 | 1 | 19 |
| AutG23191 | CYFIP1 | 15q11.2 | No | 0 | 3 | 0 | 1 | 1 | 0 | 0 | 0 | 1 | 19 |
| AutG8632 | DNAH17 | 17q25.3 | No | 0 | 0 | 0 | 0 | 0 | 1 | 1 | 1 | 0 | 19 |
| AutG152330 | CNTN4 | 3p26.3-p26.2 | No | 1 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | 1 | 18 |
| AutG145581 | LRFN5 | 14q21.1 | No | 2 | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 18 |
| AutG6734 | SRPR | 11q24.2 | No | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 | 0 | 18 |
| AutG29072 | SETD2 | 3p21.31 | No | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 | 18 |
| AutG64324 | NSD1 | 5q35.3 | Yes | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 | 0 | 18 |
| AutG404636 | FAM45A | 10q26.11 | No | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 | 0 | 18 |
| AutG8452 | CUL3 | 2q36.2 | No | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 | 18 |
| AutG5218 | CDK14 | 7q21.13 | No | 1 | 1 | 0 | 0 | 2 | 1 | 0 | 0 | 0 | 18 |
| AutG7248 | TSC1 | 9q34 | Yes | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 | 18 |
| AutG4629 | MYH11 | 16p13.11 | No | 1 | 1 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | 18 |
| AutG59341 | TRPV4 | 12q24.11 | No | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 | 0 | 18 |
| AutG4810 | NHS | Xp22.2-p22.13 | Yes | 0 | 1 | 0 | 0 | 0 | 0 | 0 | 2 | 0 | 18 |
| AutG55636 | CHD7 | 8q12.2 | Yes | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 | 0 | 18 |
| AutG3356 | HTR2A | 13q14.2 | No | 0 | 1 | 0 | 3 | 0 | 0 | 0 | 0 | 1 | 18 |
| AutG389549 | FEZF1 | 7q31.32 | No | 2 | 0 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | 18 |
| AutG4763 | NF1 | 17q11.2 | Yes | 0 | 1 | 2 | 2 | 0 | 0 | 0 | 1 | 0 | 18 |
| AutG27185 | DISC1 | 1q42.2 | No | 0 | 1 | 0 | 2 | 0 | 0 | 1 | 0 | 1 | 17 |