Data Interpretation I type of aberrant splicing #120
Description
I am new with Fraser and I have trouble of full understanding the type of aberrant splicing I have.
I can see that there are splicing metrics quantifying alternative acceptors ( ψ5), alternative donors (ψ3) and splicing efficiencies (θ).
However, I cannot understad the exact type. After a lot of reading, I conclused to the bellow, but I would like to confirm that they are correct before using them in patients.
theta | Δ < 0 (strongly negative) | Reduced splicing efficiency | Full intron retention; severe splice site disruption
theta | Δ < 0 (mild/moderate) | Moderate decrease in efficiency | Partial intron retention; splice weakening; cryptic splice activation
theta | Δ > 0 | Increased splicing efficiency | Reduced intron retention; increased canonical splice usage
psi5 | Δ > 0 | Increased usage of specific acceptor | Cryptic/alternative acceptor activation; exon truncation or elongation
psi5 | Δ < 0 | Decreased usage of that acceptor | Reduced canonical acceptor usage; acceptor mutation; shift to alternative site
psi3 | Δ > 0 | Increased usage of specific donor | Cryptic/alternative donor activation; altered exon boundary
psi3 | Δ < 0 | Decreased usage of that donor | Reduced canonical donor usage; donor mutation; donor shift
psi (psi3/psi5) | Significant Δ, no theta change | Redistribution of junction usage | Pure splice site switch (no intron retention)
theta + psi | Both significant | Efficiency + site selection affected | Cryptic splice activation; exon elongation/truncation; partial intron retention
theta only | Significant Δ | Efficiency defect only | Classic intron retention; branch point mutation; splice failure