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 | |||||
| AutG150160 | CCT8L2 | 22q11.1 | chaperonin containing TCP1, subunit 8 (theta)-like 2 | 2 | 0 | 1 |
| AutG10002 | NR2E3 | 15q23 | nuclear receptor subfamily 2, group E, member 3 | 2 | 4 | 1 |
| AutG503618 | DEFB104B | 8p23.1 | defensin, beta 104B | 2 | 1 | 1 |
| AutG2623 | GATA1 | Xp11.23 | GATA binding protein 1 (globin transcription factor 1) | 2 | 3 | 1 |
| AutG54962 | TIPIN | 15q22.31 | TIMELESS interacting protein | 2 | 1 | 1 |
| AutG100130418 | CECR7 | 22q11.1 | cat eye syndrome chromosome region, candidate 7 (non-protein coding) | 2 | 0 | 1 |
| AutG124935 | SLC43A2 | 17p13.3 | solute carrier family 43, member 2 | 2 | 0 | 1 |
| AutG55326 | AGPAT5 | 8p23.1 | 1-acylglycerol-3-phosphate O-acyltransferase 5 (lysophosphatidic acid acyltransferase, epsilon) | 2 | 3 | 1 |
| AutG23607 | CD2AP | 6p12.3 | CD2-associated protein | 2 | 0 | 1 |
| AutG115761 | ARL11 | 13q14.2 | ADP-ribosylation factor-like 11 | 2 | 0 | 1 |
| AutG729408 | GAGE2D | Xp11.23 not on reference assembly | G antigen 2D | 2 | 3 | 1 |
| AutG2245 | FGD1 | Xp11.22 | FYVE, RhoGEF and PH domain containing 1 | 3 | 1 | 1 |
| AutG83595 | SOX7 | 8p23.1 | SRY (sex determining region Y)-box 7 | 2 | 1 | 1 |
| AutG4752 | NEK3 | 13q14.3 | NIMA (never in mitosis gene a)-related kinase 3 | 2 | 0 | 1 |
| AutG51302 | CYP39A1 | 6p12.3 | cytochrome P450, family 39, subfamily A, polypeptide 1 | 2 | 0 | 1 |
| AutG65267 | WNK3 | Xp11.22 | WNK lysine deficient protein kinase 3 | 2 | 1 | 1 |
| AutG3127 | HLA-DRB5 | 6p21.32 | major histocompatibility complex, class II, DR beta 5 | 2 | 0 | 1 |
| AutG55140 | ELP3 | 8p21.1 | elongation protein 3 homolog (S. cerevisiae) | 2 | 0 | 1 |
| AutG129049 | SGSM1 | 22q11.23 | small G protein signaling modulator 1 | 3 | 1 | 1 |
| AutG221391 | OPN5 | 6p12.3 | opsin 5 | 2 | 0 | 1 |