hotblack
Senior Member (Voting Rights)
That’s pretty much my understanding, although I’m only just learning this!
I’d add that in this case the enhancer is within the protein coding region of OLFM4 but enhancers needn’t be.
And it’s the products of RCOR1 and EP300 (transcription factors) that bind to the binding site, so as to affect transcription of OLFM4 in some way.
And the Genhancer info comes from different sources, some of it experimental but some computational, so these may be expected binding sites for a transcription factor.
But the upshot of all this is that, for something like SOX6 people ME/CFS are more likely to have changes to the SOX6 gene or how it is expressed, so some differences in the transcription factor it produces as well as differences in the binding sites of that transcription factor for other genes, which themselves may also have differences…. I think, is that right?
Getting a sense of what these changes are seems the big challenge of GWAS and biology in general. Is it the gene product structure itself which has changed? Or its level of expression? Of so is there more or less? And in what tissues?
So I’m interested in looking at all the locations of all the identified TFBS for all the promoters and enhancers for all the DecodeME genes and seeing if there are hits for them and what transcription factors are involved. It seems like any patterns here could give clues to pathways or mechanisms to someone who understands all this better, do other people think this is useful?
It’s a tiny subset too, all the data on expression, splicing, chromatin, etc. is something I’m trying to get my head around and seems like a huge area people dedicate careers to!
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