Table 4.
CNVs of High Interest
| Gene Name | Cytoband | Approximate Size (kb) | Type | Individuals (n) | Novel to DGV | Validation Method | Gene Function |
|---|---|---|---|---|---|---|---|
| NT5C1B | 2p24.2 | 144 | Deletion | 2 | No | qPCR | Cytosolic 5′ nucleotidase |
| IMMT | 2p11.2 | 217 | Duplication | 2 | No | qPCR | Mitochondrial inner membrane protein |
| NPHP1 | 2q13 | 147 | Duplication | 2 | No | qPCR | Control of cell division, cell–cell and cell-matrix adhesion |
| No RefSeq genes | 5p15.33 | 60 | Duplication | 4 | Yes | qPCR | N/A |
| DMXL1, DTWD2 | 5p23.1 | 776 | Both | 2 | Yes | qPCR | DMXL1-WD domain containing; DTWD2 - no known function |
| CD5, CD6 | 11q12.2 | 145 | Duplication | 2 | Yes | qPCR | Glycoproteins involved in T-cell activation |
| C12orf56, TBK1, XPOT, RASSF3 | 12q14.2 | 486 | Duplication | 2 | Yes | aCGH | C12orf56, hypothetical protein; XPOT, tRNA exportin TBK1, Mediates NFKB activation RASSF3, Ras association domain containing protein |
| TULP3 | 12p13.33 | 20 | Deletion | 5 | Yes | qPCR | Retina expressed transcription factor |
| FAM27L | 17p11.2 | 482 | Duplication | 4 | No | qPCR | No known function |
| No RefSeq genes | 18p11.32 | 89 | Deletion | 3 | No | qPCR | N/A |
| PAK7 | 20p12 | 144 | Duplication | 2 | Yes | aCHG | Brain-expressed kinase involved in neurite growth |
Included are genes in CNV region, cytoband location, approximate size averaged across multiple programs and individuals, CNV type and the number of individuals with the given CNV, the presence or absence of the CNV in the database of genomic variants (Iafrate et al., 2004), method of validation (qPCR or aCGH), and the gene function. Exact breakpoints determined by each program in each individual are available in Supplementary Table S1 (http://www.iovs.org/lookup/suppl/doi:10.1167/iovs.10–5606-/DCSupplemental).