Alzheimer’s diseases

We have analyzed the RNA-seq dataset of Alzheimer’s diseases from The Rockefeller University [1] and identified numbers of highly-recurrent fusion transcripts, which have been occasionally observed in glioblastomas patients. One of the most intriguing loci is at the chromosome 15q24. It has read-through fusion transcripts of SH3GL3|ADAMTSL3 and actively-inversion of ADAMTSL3|SH3GL3 if it is a somatic mutation, or alternative-spliced if it is germline-inherited. We have identified 17 ADAMTSL3|SH3GL3 isoforms.


Fusion Genes Type No. of Isoforms No. of Detected Samples (9 AD Patients)
5' Genes 3' Genes
ADAMTSL3 SH3GL3 INVERSION 17 9
SH3GL3 ADAMTSL3 READ_THR 2 9
ZNF528 ZNF880 INVERSION 1 8
DNAJC25-GNG10 UGCG READ_THR 1 7
MARCH2 HNRNPM READ_THR 3 7
SLC25A16 DNA2 READ_THR 3 7
CYTSB CCDC144C READ_THR 3 6
AFF3 RANBP2 INTRA_CHR 1 6
SNORD114-1_ MEG8_ INVERSION 8 6
ADAM9 ADAM32 READ_THR 1 6
SDHAP2 SDHAP3 INTER_CHR 3 6

[1] C. Scheckel, E. Drapeau, M. A. Frias, C. Y. Park, J. Fak, I. Zucker-Scharff, et al., "Regulatory consequences of neuronal ELAV-like protein binding to coding and non-coding RNAs in human brain," Elife, vol. 5, 2016.