Table 2.
pLI of cohesin genes shows mutation intolerance
| pLI | pLI >0.9 | ||
| Cohesin | RAD21 | 0.99701 | Y |
| RAD21-AS1 | NA | NA | |
| SMC1A | 1 | Y | |
| SMC3 | 1 | Y | |
| STAG1 | 1 | Y | |
| STAG2 | 1 | Y | |
| Cohesin (Meiosis-only) |
RAD21L1 | 4.5316×10–6 | N |
| REC8 | 5.5411×10–6 | N | |
| SMC1B | 0.1041 | N | |
| STAG3 | 8.7188×10–13 | N | |
| Cohesin-support | CTCF | 0.99994 | Y |
| MAU2 | 1 | Y | |
| NIPBL | 1 | Y | |
| PDS5A | 1 | Y | |
| PDS5B | 1 | Y | |
| WAPL/WAPAL | 1 | Y |
The main set of genes comprising cohesin and cohesin-support are all pLI>0.9. However, the subset of cohesin genes specific to meiosis are not pLI.
pLI, loss-of-function intolerance.