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 | |||||
| AutG84861 | KLHL22 | 22q11.21 | kelch-like 22 (Drosophila) | 4 | 7 | 2 |
| AutG10587 | TXNRD2 | 22q11.21 | thioredoxin reductase 2 | 4 | 7 | 2 |
| AutG79680 | C22orf29 | 22q11.21 | chromosome 22 open reading frame 29 | 4 | 7 | 2 |
| AutG128977 | C22orf39 | 22q11.21 | chromosome 22 open reading frame 39 | 4 | 7 | 2 |
| AutG64976 | MRPL40 | 22q11.21 | mitochondrial ribosomal protein L40 | 4 | 7 | 2 |
| AutG26082 | DKFZP434L187 | 15q13.2 | - | 7 | 9 | 2 |
| AutG4948 | OCA2 | 15q12-q13.1 | oculocutaneous albinism II | 8 | 13 | 2 |
| AutG7625 | ZNF74 | 22q11.21 | zinc finger protein 74 | 4 | 7 | 2 |
| AutG54487 | DGCR8 | 22q11.21 | DiGeorge syndrome critical region gene 8 | 4 | 7 | 2 |
| AutG115509 | ZNF689 | 16p11.2 | zinc finger protein 689 | 4 | 0 | 2 |
| AutG78994 | PRR14 | 16p11.2 | proline rich 14 | 4 | 0 | 2 |
| AutG22928 | SEPHS2 | 16p11.2 | selenophosphate synthetase 2 | 4 | 0 | 2 |
| AutG390535 | GOLGA8E | 15q11.2 | golgin A8 family, member E | 8 | 7 | 2 |
| AutG56666 | PANX2 | 22q13.33 | pannexin 2 | 4 | 4 | 2 |
| AutG9739 | SETD1A | 16p11.2 | SET domain containing 1A | 4 | 0 | 2 |
| AutG112476 | PRRT2 | 16p11.2 | proline-rich transmembrane protein 2 | 5 | 10 | 2 |
| AutG1120 | CHKB | 22q13.33 | choline kinase beta | 4 | 4 | 2 |
| AutG112755 | STX1B | 16p11.2 | syntaxin 1B | 4 | 0 | 2 |
| AutG9344 | TAOK2 | 16p11.2 | TAO kinase 2 | 5 | 10 | 2 |
| AutG2952 | GSTT1 | 22q11.23 alternate reference locus | glutathione S-transferase theta 1 | 4 | 2 | 2 |