Table 2

pLI of cohesin genes shows mutation intolerance

pLIpLI >0.9
CohesinRAD210.99701Y
RAD21-AS1NANA
SMC1A1Y
SMC31Y
STAG11Y
STAG21Y
Cohesin
(Meiosis-only)
RAD21L14.5316×10–6N
REC85.5411×10–6N
SMC1B0.1041N
STAG38.7188×10–13N
Cohesin-supportCTCF0.99994Y
MAU21Y
NIPBL1Y
PDS5A1Y
PDS5B1Y
WAPL/WAPAL1Y
  • 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.