Also in the signature were genes encoding the DNA glycosylase NEIL3, Fanconi Anemia factors (FANCD2, UBE2T), the ubiquitin protein ligase UBE3B, and two specialized DNA polymerases, POLM and POLQ, involved in the non-homologous end-joining (NHEJ) pathways of DSB repair. The gene discussed is UBE3B; the disease is anemia (phenotype).