Open komalsrathi opened 5 years ago
Thanks for bringing up this issue. I will take a look at this later tonight/tomorrow!
Hi @murphycj
Did you get a chance to go over this? Thank you!
Sorry for the belated reply. I was on vacation.
I've been looking at your case, and I see two issues here:
I used the coordinates and nearby sequences you provided for your fusion to manually compare with what's on Ensembl:
Gene | Relative exon number | Your results (Gencode) | Ensembl |
---|---|---|---|
CHMP1A | Exon -3 | GCTTGGTCGGTTCGATCGCCGCCGGGACCTGACACCGCCCGGAGTTGGCGTCCCTTCTCCCTCTCCGAGTGCTGCTCCTGTCATTGTGGCCATGGACG | GGCGACCCCGGAAGTCCCCGCCGGGTGCAGCTTGGTCGGTTCGATCGCCGCCGGGACCTGACACCGCCCGGAGTTGGCGTCCCTTCTCCCTCTCCGAGTGCTGCTCCTGTCATTGTGGCCATGGACG |
CHMP1A | Exon -2 | ATACCCTGTTCCAGTTGAAG | ATACCCTGTTCCAGTTGAAG |
CHMP1A | Exon -1 | TTCACGGCGAAGCAGCTGGAGAAGCTGGCCAAGAAGGCGGAGAAGGACTCCAAGGCGGAGCAGGCCAAAGTGAAGAAG | TTCACGGCGAAGCAGCTGGAGAAGCTGGCCAAGAAGGCGGAGAAGGACTCCAAGGCGGAGCAGGCCAAAGTGAAGAAG |
DPEP1 | Exon +1 | TCTCTTCGTCTGTCAAGTAGAAGTCATGGATGTACCTACTTTACGACAGTCCTGCTGTGAGCACAAAGGTACCAGCCACTCAGATCACCCTCGGATCAAG | GCAGAGTGGCTCCTCACAGCCTGAAGCTCATCCTTCTGCACGGGCCAGCCAGGCCAGCACAGAGGCACCAGGGCAGCAGTGCACACAGGTCCCCGGGGACCCCACCATGTGGAGCGGATGGTGGCTGTGGCCCCTTGTGGCCGTCTGCACTGCAGACTTCTTTCGGGACGAGGCAGAGAGGATCATGAGGGACTCCCCTGTCATTGATGG |
DPEP1 | Exon +2 | CTCTGTCTCCCAGAACCACACAGAAGCCCCATCCACAGCCAACATGCAGACGCCACCGTGGCCATTTCGGATGATACCACTTCTGCACAGGCAGCCACAGGCAATGCGGACCTACCCACGCCCCCCACACACAGATCATCGCAG | GCACAATGACCTCCCCTGGCAGCTGCTGGATATGTTCAACAACCGGCTGCAGGACGAGAGGGCCAACCTGACCACCTTGGCCGGCACACACACCAACATCCCCAAGCTGAGGGCCGGCTTTGTGGGAGGCCAG |
As you can see the CHMP1A portion that I pulled from Ensembl matches what you got, but the DPEP1 portion does not. According to your fusion, the junction position for DPEP1 is 89625844, which lands somewhere in the intron between the first two exons. Hence, the DEPEP1 portion of this fusion will include the full exon 2 and onward in the cDNA.
Let me know if I am misunderstanding something.
@murphycj I think definitely 1 is an issue. For 2, are you looking at Ensembl 90?
Hi,
I have Arriba fusion caller results (run with Gencode v27 equivalent to Ensembl 90) and wanted to test the following
out-of-frame
fusion:gene1 | gene2 | strand1(gene/fusion) | strand2(gene/fusion) | breakpoint1 | breakpoint2 | site1 | site2 | type | direction1 | direction2 | split_reads1 | split_reads2 | discordant_mates | coverage1 | coverage2 | confidence | closest_genomic_breakpoint1 | closest_genomic_breakpoint2 | filters | fusion_transcript | reading_frame | peptide_sequence | read_identifiers | sample_name
-- | -- | -- | -- | -- | -- | -- | -- | -- | -- | -- | -- | -- | -- | -- | -- | -- | -- | -- | -- | -- | -- | -- | -- | -- CHMP1A | DPEP1 | -/- | +/- | 16:89651569 | 16:89625844 | splice-site | intron | deletion/read-through/5'-5' | upstream | downstream | 7 | 6 | 1 | 118 | 36 | high | . | . | duplicates(4),low_entropy(1) | GCTTGGTCGGTTCGATCGCCGCCGGGACCTGACACCGCCCGGAGTTGGCGTCCCTTCTCCCTCTCCGAGTGCTGCTCCTGTCATTGTGGCCATGGACGATACCCTGTTCCAGTTGAAGTTCACGGCGAAGCAGCTGGAGAAGCTGGCCAAGAAGGCGGAGAAGGACTCCAAGGCGGAGCAGGCCAAAGTGAAGAAG|TCTCTTCGTCTGTCAAGTAGAAGTCATGGATGTACCTACTTTACGACAGTCCTGCTGTGAGCACAAAGGTACCAGCCACTCAGATCACCCTCGGATCAAG___CTCTGTCTCCCAGAACCACACAGAAGCCCCATCCACAGCCAACATGCAGACGCCACCGTGGCCATTTCGGATGATACCACTTCTGCACAGGCAGCCACAGGCAATGCGGACCTACCCACGCCCCCCACACACAGATCATCGCAG | out-of-frame | MDDTLFQLKFTAKQLEKLAKKAEKDSKAEQAKVKK|slrlssrshgctyfttvll* | . | 0062396f-103a-4c25-bfdc-a746782768d9
I ran agfusion like this:
I got quite the opposite result from agfusion, predicting it to be an in-frame fusion:
I am not sure why that is happening, any ideas/suggestions would be much appreciated.