Nucleotide-Based Significance of Somatic Synonymous Mutations for Pan-Cancer

  • Yannan Bin
  • Xiaojuan Wang
  • Qizhi Zhu
  • Pengbo Wen
  • Junfeng XiaEmail author
Conference paper
Part of the Lecture Notes in Computer Science book series (LNCS, volume 10955)


Synonymous mutations have been identified to play important roles in cancer development. We investigated the characters of pathogenic and neutral somatic synonymous mutations identified by FATHMM across 15 cancer types from COSMIC. The comparisons of pathogenic synonymous mutations with neutral ones were performed with DNA-based characters to explore their functional mutations. Differences among pathogenic and neutral synonymous mutations are significant, for instance, pathogenic mutations were more conserved and with larger effect on splicing and translation. The function annotations of synonymous mutation were important mechanistic clues for downstream effects on gene and laid the groundwork for understanding the somatic synonymous mutations.


Pan-cancer Somatic Synonymous mutation DNA-based character 



The authors thank the members of our laboratory for their valuable discussions. This work has been supported by the grants from the National Natural Science Foundation of China (61672037 and 21601001), the Anhui Provincial Outstanding Young Talent Support Plan (No. gxyqZD2017005), the Young Wanjiang Scholar Program of Anhui Province and the Initial Foundation of Doctoral Scientific Research in Anhui University (J10113190035).


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Copyright information

© Springer International Publishing AG, part of Springer Nature 2018

Authors and Affiliations

  • Yannan Bin
    • 1
  • Xiaojuan Wang
    • 1
  • Qizhi Zhu
    • 1
  • Pengbo Wen
    • 1
  • Junfeng Xia
    • 1
    Email author
  1. 1.Institute of Physical Science and Information Technology, School of Computer Science and TechnologyAnhui UniversityHefeiChina

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