WP4942 - 15q13.3 copy number variation syndrome - Homo sapiens

This pathway shows the genes deleted or duplicated in 15q13.3 copy number variation syndrome. The affected region is between 30,500,000-32,500,000 bp on Chromosome 15. The major genes in this region are OTUD7A and CHRNA7 which are known influencers of neuronal development and function. For several genes in this regio there are no exact functions known yet - e.g. the GOLGA gene group or the MTMR10 which is similar to phosphatidyl-inositol 3 phosphatases but without an active catalytic centre. The breakpoints 30,500,000-32,500,000 are from "15q13.3 Microdeletion", Bregje WM van Bon et al. in Gene reviews PMID: 20301295.