15q13.3 copy number variation syndrome

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.

本路径展示了在15q13.3拷贝数变异综合征中发生删除或重复的基因。受影响的区域位于第15号染色体上的30,500,000至32,500,000碱基对之间。该区域的主要基因包括OTUD7A和CHRNA7，它们是已知影响神经元发育和功能的因素。对于该区域的一些基因，其确切功能尚不明确——例如GOLGA基因群或MTMR10，后者与磷脂酰肌醇3磷酸酶相似，但缺乏活性催化中心。30,500,000至32,500,000碱基对的断裂点来源于'Bregje WM van Bon等人在《Gene reviews》中的'15q13.3 Microdeletion'，PMID: 20301295。