One hypothesis is the cancer-associated variants affect the entire length of the PRPF8 protein and so may affect different functions and/or interactions of PRPF8 than the RP-linked PRPF8 variants which are only found in the Jab1/MPN domain (Kurtovic-Kozaric et al., 2015; Ru°žičková and Staněk, 2017). The gene discussed is COPS5; the disease is cancer.