Copy Number Variation Related Gene List
- We collected all the Copy Number Variants(CNVs) from related studies in the dataset. If the study gave the exact start and end point, we collected all the genes in the given region; if not, we deduced genomic region from the band, and collected all the genes in the band.
- According to the number of related studies, genes in the dataset are scored 3, 2, 1. If one gene have 2 or more relate studies, and each study has at least one exact region for this gene, the gene will be listed below. The higher the score, the more confident the gene is. (More information about the dataset)
| Gene ID | Gene Symbol | Band | Gene Name | #CNV studies | Score | |
|---|---|---|---|---|---|---|
| #Studies with exact region | #Studies with deduced region | |||||
| AutG29123 | ANKRD11 | 16q24.3 | ankyrin repeat domain 11 | 2 | 3 | 1 |
| AutG26047 | CNTNAP2 | 7q35-q36.1 | contactin associated protein-like 2 | 3 | 3 | 1 |
| AutG6792 | CDKL5 | Xp22.13 | cyclin-dependent kinase-like 5 | 2 | 1 | 1 |
| AutG438 | ASMT | Xp22.3 and Yp11.3 | acetylserotonin O-methyltransferase | 2 | 3 | 1 |
| AutG3123 | HLA-DRB1 | 6p21.32 | major histocompatibility complex, class II, DR beta 1 | 2 | 0 | 1 |
| AutG1814 | DRD3 | 3q13.31 | dopamine receptor D3 | 2 | 0 | 1 |
| AutG57553 | MICAL3 | 22q11.21 | microtubule associated monoxygenase, calponin and LIM domain containing 3 | 3 | 0 | 1 |
| AutG8216 | LZTR1 | 22q11.21 | leucine-zipper-like transcription regulator 1 | 3 | 7 | 1 |
| AutG5604 | MAP2K1 | 15q22.31 | mitogen-activated protein kinase kinase 1 | 2 | 1 | 1 |
| AutG4208 | MEF2C | 5q14.3 | myocyte enhancer factor 2C | 2 | 1 | 1 |
| AutG2626 | GATA4 | 8p23.1 | GATA binding protein 4 | 2 | 0 | 1 |
| AutG31 | ACACA | 17q12 | acetyl-CoA carboxylase alpha | 2 | 2 | 1 |
| AutG4643 | MYO1E | 15q22.2 | myosin IE | 2 | 2 | 1 |
| AutG7204 | TRIO | 5p15.2 | triple functional domain (PTPRF interacting) | 2 | 2 | 1 |
| AutG340533 | KIAA2022 | Xq13.3 | KIAA2022 | 3 | 0 | 1 |
| AutG10343 | PKDREJ | 22q13.31 | polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) | 3 | 2 | 1 |
| AutG60 | ACTB | 7p22.1 | actin, beta | 2 | 1 | 1 |
| AutG55777 | MBD5 | 2q23.2 | methyl-CpG binding domain protein 5 | 3 | 1 | 1 |
| AutG11141 | IL1RAPL1 | Xp21.3-p21.2 | interleukin 1 receptor accessory protein-like 1 | 2 | 1 | 1 |
| AutG22941 | SHANK2 | 11q13.3-q13.4 | SH3 and multiple ankyrin repeat domains 2 | 3 | 3 | 1 |