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 | |||||
| AutG1417 | CRYBB3 | 22q11.23 | crystallin, beta B3 | 3 | 1 | 1 |
| AutG100130717 | CECR4 | 22q11.1 | cat eye syndrome chromosome region, candidate 4 (non-protein coding) | 2 | 0 | 1 |
| AutG100124542 | SNORA11E | Xp11.22 | small nucleolar RNA, H/ACA box 11E | 2 | 3 | 1 |
| AutG9567 | GTPBP1 | 22q13.1 | GTP binding protein 1 | 2 | 0 | 1 |
| AutG9210 | BMP15 | Xp11.22 | bone morphogenetic protein 15 | 2 | 3 | 1 |
| AutG11015 | KDELR3 | 22q13.1 | KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 3 | 2 | 0 | 1 |
| AutG390648 | OR4F6 | 15q26.3 | olfactory receptor, family 4, subfamily F, member 6 | 2 | 2 | 1 |
| AutG203074 | PRSS55 | 8p23.1 | protease, serine, 55 | 2 | 1 | 1 |
| AutG50628 | GEMIN4 | 17p13.3 | gem (nuclear organelle) associated protein 4 | 2 | 1 | 1 |
| AutG10526 | IPO8 | 12p11.21 | importin 8 | 2 | 1 | 1 |
| AutG9617 | MTRF1 | 13q14.11 | mitochondrial translational release factor 1 | 2 | 1 | 1 |
| AutG79660 | PPP1R3B | 8p23.1 | protein phosphatase 1, regulatory (inhibitor) subunit 3B | 2 | 0 | 1 |
| AutG79917 | MAGIX | Xp11.23 | MAGI family member, X-linked | 2 | 3 | 1 |
| AutG91694 | LONRF1 | 8p23.1 | LON peptidase N-terminal domain and ring finger 1 | 2 | 1 | 1 |
| AutG55020 | TTC38 | 22q13.31 | tetratricopeptide repeat domain 38 | 3 | 2 | 1 |
| AutG653423 | SPAG11A | 8p23.1 | sperm associated antigen 11A | 2 | 0 | 1 |
| AutG129138 | ANKRD54 | 22q13.1 | ankyrin repeat domain 54 | 2 | 0 | 1 |
| AutG28227 | PPP2R3B | Xp22.3 and Yp11.3 | protein phosphatase 2, regulatory subunit B'', beta | 2 | 2 | 1 |
| AutG1671 | DEFA6 | 8p23.1 | defensin, alpha 6, Paneth cell-specific | 2 | 3 | 1 |
| AutG4242 | MFNG | 22q13.1 | MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase | 2 | 0 | 1 |