PLIN4 exon3 or exon5?

[elbayaliyev]

Dear STRchive,

Per description it is mentioned that VNTR located in exon3

This is an expanded variable number tandem repeat (VNTR) in the PLIN4 gene, located in exon 3. This repeat consists of a 99 bp motif which encodes 33 amino-acids within the perilipin-4 protein7 . Expansions of this 99 bp motif leads to insertion of multiple imperfect 33–amino acid repeats. These repetitive sequences are thought to contribute to abnormal protein aggregation and dysregulated autophagy seen in affected muscle tissue1 .

USCS shows this region as a exon5:

[Macayla-weiner]

All of the literature says exon 3. Is it possible that the repeat just spans multiple, so USC is showing the middle?

[wdecoster]

I agree with @elbayaliyev; it is consistently the 5th exon, and for some transcripts, the 6th. Which also indicates that writing which exon number it is is useless without specifying which transcript this is about. Possibly you could refer to the MANE annotation?