Novel transcript, sense intronic to AMZ2

This locus represents a novel transcript identified within the intronic region of the AMZ2 gene on the sense strand. Novel transcripts are discovered using long-read RNA sequencing and transcriptome assembly tools such as Bambu, IsoQuant, and FLAIR, typically in large RNA-seq studies. These transcripts often lack annotation regarding protein-coding capability, biological function, and disease relevance. Many “novel” transcripts, particularly those intronic to known genes, can be artifacts of sequencing, represent uncharacterized lncRNAs, or be non-functional remnants of pervasive transcription. Currently, there is no evidence that this transcript encodes a protein or is involved in classic molecular pathways amenable to therapeutic targeting. Further validation and functional studies are required before its biological or clinical relevance can be established[1][3].