Benchmark DataSet in AutismKB 2.0
- This dataset contains 46 genes.
- In AutismKB 1.0, the benchmark dataset was comprised of 21 non-syndromic autism-related genes from six review papers published before 2010. On comparison, AutismKB 2.0 used a more up-to-date benchmark dataset consisting of 46 non-syndromic autism-related genes recommended by SPARK (Simons Foundation Powering Autism Research for Knowledge)
| Gene ID | Gene Symbol | Band | Evidence Score | Total Score | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| GWAS | CNV | Linkage | Association | Expression | NGS de novo Mutation | NGS Mosaic SNV | NGS Other | Low-Scale Gene Studies | ||||
| AutG10295 | BCKDK | 16p11.2 | 0 | 2 | 0 | 0 | 0 | 0 | 0 | 1 | 1 | 22 |
| AutG10479 | SLC9A6 | Xq26.3 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 10 |
| AutG10787 | NCKAP1 | 2q32.1 | 0 | 1 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | 12 |
| AutG1106 | CHD2 | 15q26.1 | 0 | 1 | 1 | 0 | 0 | 3 | 0 | 1 | 1 | 52 |
| AutG139411 | PTCHD1 | Xp22.11 | 0 | 2 | 0 | 1 | 0 | 0 | 0 | 0 | 1 | 16 |
| AutG1654 | DDX3X | Xp11.4 | 0 | 1 | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 12 |
| AutG1826 | DSCAM | 21q22.2 | 0 | 1 | 0 | 0 | 0 | 1 | 1 | 1 | 0 | 21 |
| AutG1859 | DYRK1A | 21q22.13 | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 2 | 2 | 46 |
| AutG2033 | EP300 | 22q13.2 | 0 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 2 |
| AutG22941 | SHANK2 | 11q13.3-q13.4 | 0 | 1 | 0 | 0 | 0 | 0 | 0 | 1 | 1 | 20 |
| AutG22999 | RIMS1 | 6q13 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 12 |
| AutG23040 | MYT1L | 2p25.3 | 0 | 1 | 1 | 0 | 1 | 2 | 0 | 1 | 0 | 33 |
| AutG23126 | POGZ | 1q21.3 | 0 | 1 | 1 | 0 | 0 | 2 | 0 | 1 | 3 | 62 |
| AutG23389 | MED13L | 12q24.21 | 0 | 1 | 0 | 0 | 0 | 1 | 0 | 2 | 0 | 28 |
| AutG23394 | ADNP | 20q13.13 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
| AutG26040 | SETBP1 | 18q12.3 | 0 | 0 | 1 | 0 | 1 | 2 | 0 | 1 | 0 | 31 |
| AutG26053 | AUTS2 | 7q11.22 | 0 | 2 | 0 | 0 | 0 | 0 | 0 | 2 | 3 | 50 |
| AutG26058 | GIGYF2 | 2q37.1 | 0 | 1 | 0 | 0 | 0 | 3 | 0 | 1 | 0 | 40 |
| AutG26137 | ZBTB20 | 3q13.31 | 0 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 4 |
| AutG27245 | AHDC1 | 1p36.11-p35.3 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
| AutG287 | ANK2 | 4q25-q26 | 0 | 1 | 0 | 0 | 0 | 3 | 0 | 0 | 0 | 32 |
| AutG2904 | GRIN2B | 12p13.1 | 0 | 0 | 0 | 2 | 0 | 3 | 0 | 1 | 1 | 52 |
| AutG29072 | SETD2 | 3p21.31 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 | 18 |
| AutG29123 | ANKRD11 | 16q24.3 | 0 | 1 | 0 | 0 | 0 | 2 | 0 | 2 | 1 | 48 |
| AutG51111 | SUV420H1 | 11q13.2 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
| AutG51322 | WAC | 10p12.1 | 0 | 0 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 2 |
| AutG53335 | BCL11A | 2p16.1 | 0 | 1 | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 12 |
| AutG54413 | NLGN3 | Xq13.1 | 0 | 1 | 0 | 1 | 0 | 1 | 0 | 0 | 3 | 44 |
| AutG55209 | SETD5 | 3p25.3 | 0 | 0 | 1 | 0 | 0 | 2 | 0 | 0 | 0 | 22 |
| AutG55690 | PACS1 | 11q13.1-q13.2 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
| AutG55870 | ASH1L | 1q22 | 0 | 1 | 0 | 0 | 0 | 1 | 0 | 1 | 0 | 20 |
| AutG57492 | ARID1B | 6q25.3 | 0 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 12 |
| AutG57555 | NLGN2 | 17p13.1 | 0 | 0 | 1 | 0 | 0 | 2 | 0 | 0 | 0 | 22 |
| AutG57616 | TSHZ3 | 19q12 | 0 | 0 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 2 |
| AutG57680 | CHD8 | 14q11.2 | 0 | 2 | 0 | 0 | 0 | 3 | 0 | 2 | 1 | 60 |
| AutG6326 | SCN2A | 2q24.3 | 0 | 0 | 0 | 0 | 0 | 3 | 1 | 2 | 1 | 57 |
| AutG6529 | SLC6A1 | 3p25.3 | 0 | 0 | 1 | 0 | 0 | 3 | 0 | 0 | 0 | 32 |
| AutG6812 | STXBP1 | 9q34.11 | 0 | 1 | 0 | 0 | 3 | 2 | 0 | 1 | 0 | 33 |
| AutG7204 | TRIO | 5p15.2 | 0 | 1 | 0 | 0 | 0 | 1 | 0 | 0 | 1 | 22 |
| AutG79143 | MBOAT7 | 19q13.42 | 0 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 4 |
| AutG80816 | ASXL3 | 18q12.1 | 0 | 0 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 2 |
| AutG8831 | SYNGAP1 | 6p21.32 | 0 | 1 | 0 | 0 | 0 | 2 | 0 | 2 | 0 | 38 |
| AutG9320 | TRIP12 | 2q36.3 | 0 | 0 | 1 | 0 | 0 | 1 | 0 | 2 | 0 | 28 |
| AutG93627 | TBCK | 4q24 | 0 | 0 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | 12 |
| AutG9369 | NRXN3 | 14q24.3-q31.1 | 0 | 1 | 1 | 0 | 0 | 1 | 1 | 0 | 0 | 15 |
| AutG9379 | NRXN2 | 11q13.1 | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 0 | 1 | 12 |
SPARK Consortium. Electronic address: pfeliciano@simonsfoundation.org and SPARK Consortium (2018) SPARK: A US Cohort of 50,000 Families to Accelerate Autism Research, Neuron, 97, 488–493.(PMID: 29420931)