Entering edit mode
7.8 years ago
fetus0000
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20
Hello, and I have a question regarding GWAS catalog (https://www.ebi.ac.uk/gwas/ ). From this dataset, How can I distinguish those SNPs are in coding region or non-coding region?
I mean that Is it ok in general to understand that variants in "coding-region" is equal to variants in orange regions of the picture from: http://asia.ensembl.org/info/genome/variation/predicted_data.html?
(i.e. You guys refer to variants in coding regions as :synonymous, missense, inframe insertion, inframe deletion, stop gained, frameshift, coding sequence variant?)
Thanks in advance.
The variants are classified in GWAS catalog under the "Functional class" column and you have already found the help page for those classes. Is there an unanswered question here?
i am sorry, but i want to know the common sense of what you guys scientist call coding regions, is my understanding collect, you think?
From original post:
Ensembl glossary defines CDS/coding sequence as
Assuming you are not from a biology background, coding means that the DNA directly codes for a protein, essentially the DNA is transcribed and translated to protein.
(Ignoring the semantic discussion of "is UTR coding or not" for the sake of simplicity)
I'm new to this kind, and thank you very much for those answers. I really appreciate that. But I still don't clearly understand, a bit confused. I attached a picture of my thinking, is this correct, you think?
Variants in red box will have an effect (not always deleterious) on the encoded protein. The 4 effects above your red box would also be included in this class.
Thank you very much for your kind answer. I finally come to understand, but not fully, and from your view I might be asking a stupid question... The pic attached is I think correct in context of "variants that directly affect encoded protein".