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 | |||||
| AutG23765 | IL17RA | 22q11.1 | interleukin 17 receptor A | 2 | 0 | 1 |
| AutG640 | BLK | 8p23.1 | B lymphoid tyrosine kinase | 2 | 0 | 1 |
| AutG51132 | RLIM | Xq13.2 | ring finger protein, LIM domain interacting | 2 | 0 | 1 |
| AutG29775 | CARD10 | 22q13.1 | caspase recruitment domain family, member 10 | 2 | 0 | 1 |
| AutG6521 | SLC4A1 | 17q21.31 | solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group) | 2 | 0 | 1 |
| AutG1135 | CHRNA2 | 8p21.2 | cholinergic receptor, nicotinic, alpha 2 (neuronal) | 2 | 0 | 1 |
| AutG66036 | MTMR9 | 8p23.1 | myotubularin related protein 9 | 2 | 0 | 1 |
| AutG54476 | RNF216 | 7p22.1 | ring finger protein 216 | 2 | 1 | 1 |
| AutG8573 | CASK | Xp11.4 | calcium/calmodulin-dependent serine protein kinase (MAGUK family) | 2 | 1 | 1 |
| AutG8242 | KDM5C | Xp11.22 | lysine (K)-specific demethylase 5C | 3 | 0 | 1 |
| AutG85417 | CCNB3 | Xp11.22 | cyclin B3 | 2 | 3 | 1 |
| AutG23245 | ASTN2 | 9q33.1 | astrotactin 2 | 3 | 3 | 1 |
| AutG57509 | MTUS1 | 8p22 | microtubule associated tumor suppressor 1 | 2 | 2 | 1 |
| AutG10260 | DENND4A | 15q22.31 | DENN/MADD domain containing 4A | 2 | 1 | 1 |
| AutG390594 | KBTBD13 | 15q22.31 | kelch repeat and BTB (POZ) domain containing 13 | 2 | 2 | 1 |
| AutG79648 | MCPH1 | 8p23.1 | microcephalin 1 | 2 | 4 | 1 |
| AutG3956 | LGALS1 | 22q13.1 | lectin, galactoside-binding, soluble, 1 | 2 | 0 | 1 |
| AutG89801 | PPP1R3F | Xp11.23 | protein phosphatase 1, regulatory (inhibitor) subunit 3F | 2 | 3 | 1 |
| AutG10075 | HUWE1 | Xp11.22 | HECT, UBA and WWE domain containing 1 | 3 | 0 | 1 |
| AutG28952 | CCDC22 | Xp11.23 | coiled-coil domain containing 22 | 2 | 3 | 1 |