arriba
arriba copied to clipboard
possibly incorrect determination of the frame
We have a fusion called SCP2-NTRK1 and we are curious as to why the fusion is being called as out of frame. The nt sequence as reported by arriba is as follows:
ATAATTTAGGCATTGGAGGAGCTGTGGTTGTAACACTCTACAAGATGGGTTTTCCGGAAGCCGCCAG___TTCTTTTAGAACTCATCAAATTGAAGCTGTTCCAACCAGCTCTGCAAGTGATGGATTTAAGGCAAATCTTGTTTTTAAGGAGATTGAGAAGAAACTTGAAGAG___TCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCGTGCCTCAGCCTCCCGAGTAGCTGGCATTACAGGCACGTGCCACCACACCCAG|GACGGAGAAACAAGTTTGGGATCAACC___GCCCGGCTGTGCTGGCTCCAGAGGATGGGCTGGCCATGTCCCTGCATTTCATGACATTGGGTGGCAGCTCCCTGTCCCCCACCGAGGGCAAAGGCTCTGGGCTCCAAGGCCACATCATCGAGAACCCACAATACTTCAGTGATGCCTGTGAGGGGCTATGCTGGG...CAAGGGCAGGGACGA...___GTGTTCACCACATCAAGCGC
The sequence between the breakpoint |
the last ___
before it is actually intron sequence (site1 == intron and site2 == CDS). The aa sequence that arriba predicts is as follows:
NLGIGGAVVVTLYKMGFPEAASSFRTHQIEAVPTSSASDGFKANLVFKEIEKKLEEsrsvtqagvqwrdlgslqppppgfkrfsclslpsswhyrhvpphp|grrnkfginrpavlapedglamslhfmtlggsslsptegkgsglqghiienpqyfsdaceglcw
we are a bit confused because the protein sequence after the breakpoint looks to be in-frame. so i'm just wondering what about this causes arriba to say it is out-of-frame.
by the way, we are using 2.3.0