Research Papers:

Identification of KANSARL as the first cancer predisposition fusion gene specific to the population of European ancestry origin

Jeff Xiwu Zhou _, Xiaoyan Yang, Shunbin Ning, Ling Wang, Kesheng Wang, Yanbin Zhang, Fenghua Yuan, Fengli Li, David D. Zhuo, Liren Tang and Degen Zhuo

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Oncotarget. 2017; 8:50594-50607. https://doi.org/10.18632/oncotarget.16385

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Jeff Xiwu Zhou1,*, Xiaoyan Yang2,*, Shunbin Ning3,*, Ling Wang3, Kesheng Wang4, Yanbin Zhang5, Fenghua Yuan5, Fengli Li1, David D. Zhuo2, Liren Tang2 and Degen Zhuo2

1Department of Medicine, School of Medicine, Ningbo University, Ningbo, China

2SplicingCodes.com, Biotailor Inc., Palmetto Bay, FL, USA

3Department of Internal Medicine, Quillen College of Medicine, East Tennessee State University, Johnson City, TN, USA

4Department of Biostatistics and Epidemiology, East Tennessee State University, Johnson City, TN, USA

5Department of Biochemistry and Molecular Biology, University of Miami, Miami, FL, USA

*These authors have contributed equally to this work

Correspondence to:

Degen Zhuo, email: [email protected]

Keywords: KANSARL, fusion gene, European ancestry origin, RNA-seq

Received: August 15, 2016    Accepted: February 20, 2017    Published: March 24, 2017


Gene fusion is one of the hallmarks of cancer. Recent advances in RNA-seq of cancer transcriptomes have facilitated the discovery of fusion transcripts. In this study, we report identification of a surprisingly large number of fusion transcripts, including six KANSARL (KANSL1-ARL17A) transcripts that resulted from the fusion between the KANSL1 and ARL17A genes using a RNA splicingcode model. Five of these six KANSARL fusion transcripts are novel. By systematic analysis of RNA-seq data of glioblastoma, prostate cancer, lung cancer, breast cancer, and lymphoma from different regions of the World, we have found that KANSARL fusion transcripts were rarely detected in the tumors of individuals from Asia or Africa. In contrast, they exist in 30 - 52% of the tumors from North Americans cancer patients. Analysis of CEPH/Utah Pedigree 1463 has revealed that KANSARL is a familially-inherited fusion gene. Further analysis of RNA-seq datasets of the 1000 Genome Project has indicated that KANSARL fusion gene is specific to 28.9% of the population of European ancestry origin. In summary, we demonstrated that KANSARL is the first cancer predisposition fusion gene associated with genetic backgrounds of European ancestry origin.

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