Identification of ATP9A-NFATC2 gene fusion transcript in Behcet's disease, a subtype of uveitis.

ABSTRACT:

Purpose

Fusion transcripts have been reported as biomarkers for several diseases; however, a fusion gene has not been reported in ophthalmic disease. To the best of our knowledge, the discovery of fusion transcript in Behcet's disease (BD), a noninfectious uveitis, is reported for the first time. We generated complete transcript data for BD subtape and discovered fusion transcripts specific to BD patients.

Methods

We sequenced total RNA from peripheral blood mononuclear cells isolated from clinically characterized BD patients and controls and generated BAM files, which served as input data for predicting fusion transcripts. We used Arriba, a computational tool for the detection of fusion transcripts. Arriba is fast and accurate for the identification of gene fusions from RNA

SUBMITTER: Haridas K 

PROVIDER: S-EPMC12947091 | biostudies-literature | 2026 Feb

REPOSITORIES: biostudies-literature