Predicts the onset of Alzheimer’s disease (AD) using deep learning-based Splice-AI

The Korea Brain Research Institute (KBRI, Chairman Suh Pann-ghill) announced that the research team led by Dr. Jae-Yeol Joo has discovered new coded splice variants and SNVs in the PLCg1 gene for models of AD disease for the first time using Splice-AI.

This search result is published in PNAS, A world-famous academic journal.

* (Title) Prediction of Alzheimer’s Disease gamma-1 SNV phospholipase through a deep learning approach to high throughput screening

The alternative splicing variant regulates gene expression and influences diverse phenotypes. In particular, genetic variants arising from RNA splicing are often found in individuals with neurodevelopmental disorders.

The research team revealed hidden splicing within the transcriptome to AD models via deep learning-based Splice-AI.

The 14 new alternative binding sites in the PLCg1 gene body, a key component of the signal transduction mechanism, were identified through deep learning.

In particular, Splice-AI analysis predicted a total of 14 binding sites in the human PLCg1 gene, minute delta scores and positions were analyzed and a new binding site identified in exon 26 of human PLCg1. (Exon 26 of the PLCg1 gene is 100% identical to exon 27 of the same gene in mice in terms of amino acid sequences).

* (Splicing) is a form of processing RNA that regulates gene expression through the medium of genetic information

* (PLCg1, phospholipase c gamma-1) is an essential protein involved in cell signal transmission and human cell growth and death

* (Exon) is a part of a gene that contains protein synthesis information

Abnormal RNA processing with SNV was identified in exon 27 of the PLCg1 gene within the brain of AD mouse models.

The research team revealed for the first time that SNV induces changes in the amino acids of proteins at exon 27. This region is very important for homeostasis because the mutated sequence is an evolutionarily conserved sequence by different species such as human, monkey, mouse, chicken, zebrafish and so on. Moreover, the nucleotide modification sites of Alzheimer’s disease were distributed in the histone modification region of the PLCg1 gene body during brain development.

Dr Joe stated, “Emerging variants of Coronavirus were reported in England in December 2020, and it is more transmissible than previously circulating viruses.

This altered coronavirus has a mutation and alteration of proteinaceous amino acids.

Our research will provide valuable information and techniques for various human diseases and through the convergence and use of brain research with artificial intelligence technology, which is the core of the fourth industrial revolution, to understand various diseases, including Alzheimer’s disease, we will be able to obtain important information for diagnosis and treatment strategy.


This research was supported by grants from the National Research Foundation of Korea, and the Core Research Program of the Korean Brain Research Institute (KBRI).

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