Table 2.
Expression of TOF CNV genes in the human right ventricular outflow tract.
| CNV# | Gene | Tag count |
|---|---|---|
| 1q21.1 | PRKAB2 | 8±3 |
| PDIA3P | 0 | |
| FM05 | 1± 1 | |
| CHD1L | 12 ±6 | |
| BCL9 | 11 ±4 | |
| ACP6 | 3±2 | |
| GJA5 | 8±4 | |
| 3p25.1 | RAF1 | 99 ±20 |
| TMEM40 | 1± 1 | |
| 7p21.3 | no genes | 0 |
| 22q11.2 | TBX1 | 2± 1 |
| 9q34.3 | NOTCH1 | 22 ±6 |
| 20p12.2 | JAG1 | 43 ±8 |
| 2p23.3 | ASXL2 | 23 ±5 |
| KIF3C | 4± 1 | |
| RAB10 | 70 ±24 | |
| 2p15 | BCL11A | 15 ± 4 |
| PAPOLG | 12 ±4 | |
| PEL | 2± 1 | |
| PUS10 | 0 | |
| PEX13 | 13 ±4 | |
| KIAA1841 | 10±4 | |
| AHSA2 | 30 ± 10 | |
| USP34 | 33 ± 15 | |
| SNORA70B | 0 | |
| XPOl | 40 ± 11 | |
| FAM161A | 0 | |
| CCT4 | 59 ± 15 | |
| 4q22.1 | PPM1K | 17±6 |
| 10q11.21 | no genes | 0 |
#
Abbreviations and definitions: CNV, cytogenetic location of TOF copy number variant identified in Table 1; Gene, name of reference gene within TOF CNV according to Build 36.1 of the human reference genome; Tag count, number of sense tags mapped to reference gene from four separate human right ventricular outflow tract mRNA expression libraries, expressed as mean ± standard deviation. For loci containing a known disease gene (bold) the expression profile for only that gene is shown.