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 | |||||
| AutG6598 | SMARCB1 | 22q11.23 | SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 | 3 | 3 | 1 |
| AutG8383 | OR1A1 | 17p13.3 | olfactory receptor, family 1, subfamily A, member 1 | 2 | 1 | 1 |
| AutG613 | BCR | 22q11.23 | breakpoint cluster region | 3 | 2 | 1 |
| AutG6758 | SSX5 | Xp11.23 | synovial sarcoma, X breakpoint 5 | 3 | 0 | 1 |
| AutG8226 | HDHD1 | Xp22.32 | haloacid dehalogenase-like hydrolase domain containing 1 | 2 | 3 | 1 |
| AutG54471 | SMCR7L | 22q13 | Smith-Magenis syndrome chromosome region, candidate 7-like | 2 | 0 | 1 |
| AutG123264 | OSTBETA | 15q22.31 | - | 2 | 2 | 1 |
| AutG339674 | LOC339674 | 22q13.2 | - | 3 | 0 | 1 |
| AutG150372 | NFAM1 | 22q13.2 | NFAT activating protein with ITAM motif 1 | 3 | 2 | 1 |
| AutG7621 | ZNF70 | 22q11.23 | zinc finger protein 70 | 3 | 3 | 1 |
| AutG758 | MPPED1 | 22q13.2 | metallophosphoesterase domain containing 1 | 3 | 1 | 1 |
| AutG29800 | ZDHHC1 | 16q22.1 | zinc finger, DHHC-type containing 1 | 2 | 0 | 1 |
| AutG79893 | GGNBP2 | 17q12 | gametogenetin binding protein 2 | 2 | 2 | 1 |
| AutG3955 | LFNG | 7p22.3 | LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase | 2 | 1 | 1 |
| AutG252969 | NEIL2 | 8p23.1 | nei endonuclease VIII-like 2 (E. coli) | 2 | 0 | 1 |
| AutG7965 | AIMP2 | 7p22.1 | aminoacyl tRNA synthetase complex-interacting multifunctional protein 2 | 2 | 1 | 1 |
| AutG1669 | DEFA4 | 8p23.1 | defensin, alpha 4, corticostatin | 2 | 3 | 1 |
| AutG1874 | E2F4 | 16q22.1 | E2F transcription factor 4, p107/p130-binding | 2 | 0 | 1 |
| AutG222611 | GPR111 | 6p12.3 | G protein-coupled receptor 111 | 2 | 0 | 1 |
| AutG51400 | PPME1 | 11q13.4 | protein phosphatase methylesterase 1 | 3 | 0 | 1 |