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 | |||||
| AutG26053 | AUTS2 | 7q11.22 | autism susceptibility candidate 2 | 7 | 4 | 2 |
| AutG7249 | TSC2 | 16p13.3 | tuberous sclerosis 2 | 4 | 0 | 2 |
| AutG5595 | MAPK3 | 16p11.2 | mitogen-activated protein kinase 3 | 5 | 10 | 2 |
| AutG1756 | DMD | Xp21.2-p21.1 | dystrophin | 4 | 4 | 2 |
| AutG321 | APBA2 | 15q13.1 | amyloid beta (A4) precursor protein-binding, family A, member 2 | 8 | 12 | 2 |
| AutG7337 | UBE3A | 15q11.2 | ubiquitin protein ligase E3A | 8 | 12 | 2 |
| AutG10295 | BCKDK | 16p11.2 | branched chain ketoacid dehydrogenase kinase | 4 | 0 | 2 |
| AutG54584 | GNB1L | 22q11.21 | guanine nucleotide binding protein (G protein), beta polypeptide 1-like | 4 | 7 | 2 |
| AutG8220 | DGCR14 | 22q11.21|22q11.2 | DiGeorge syndrome critical region gene 14 | 4 | 6 | 2 |
| AutG23617 | TSSK2 | 22q11.21 | testis-specific serine kinase 2 | 4 | 6 | 2 |
| AutG139411 | PTCHD1 | Xp22.11 | patched domain containing 1 | 4 | 2 | 2 |
| AutG22909 | FAN1 | 15q13.3 | FANCD2/FANCI-associated nuclease 1 | 8 | 12 | 2 |
| AutG23523 | CABIN1 | 22q11.23 | calcineurin binding protein 1 | 4 | 3 | 2 |
| AutG9620 | CELSR1 | 22q13.31 | cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) | 4 | 4 | 2 |
| AutG10847 | SRCAP | 16p11.2 | Snf2-related CREBBP activator protein | 5 | 0 | 2 |
| AutG9824 | ARHGAP11A | 15q13.3 | Rho GTPase activating protein 11A | 7 | 4 | 2 |
| AutG64319 | FBRS | 16p11.2 | fibrosin | 4 | 0 | 2 |
| AutG80305 | TRABD | 22q13.33 | TraB domain containing | 5 | 4 | 2 |
| AutG8940 | TOP3B | 22q11.22 | topoisomerase (DNA) III beta | 4 | 4 | 2 |
| AutG9701 | PPP6R2 | 22q13.33 | protein phosphatase 6, regulatory subunit 2 | 4 | 4 | 2 |