Is it possible for a genetic locus to be "in" a gene but not within the bounds of any transcript?
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9.4 years ago

I'm wondering, from the point of view of an annotation library like Ensembl, does it make any sense for a locus to be inside a gene but not inside any transcript?

ensembl • 2.3k views
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9.4 years ago

The definition of the term gene is quite broad:

Gene: http://www.sequenceontology.org/browser/current_svn/term/SO:0000704

A region (or regions) that includes all of the sequence elements necessary to encode a functional transcript. A gene may include regulatory regions, transcribed regions and/or other functional sequence regions.

Transcript: http://www.sequenceontology.org/browser/current_svn/term/SO:0000673

An RNA synthesized on a DNA or RNA template by an RNA polymerase.

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The inclusion of regulatory regions seems, I think, different from how Ensembl defines genes. It's also confusingly vague: would you include all eQTLs as part of a gene?

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The key point there is the wording that says "may include" but does not have to. I found that different communities interpret the specification quite differently. For example annotations for bacterial genomes will follow different standards than those for mouse etc

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