so the deletion only partially affects exon 16, and then the intron after. The predictCoding function reports:
REFCODON: CAGGACATTCAAGGAGGGAAAGCAGCCCCTGCTGAAGCTCTGGGAATCCCGGAT (= QDIQGGKAAPAEALGIPD)
VARCODON: CGT (= R; GT from extending into the intron?)
CDSLOC: 2186-2188
The sequence of each exon listed above is:
15: GCACGGAGAAAAGCGGCTACAGAAGAAGCAGAAAAACAAAAGAAAGAAGAAATAAAAGCTTTACAAGGGCAGCTGGCAGCACTGAAAGAAATTCAGGCTGAAGTTCAG
16: GAAAAAGAAAGTGATGCTGTGAAGCCAAAGAATCAGG [AGG = revcomp of variant end]
^ refcodon start
17: ACATTCAAGGAGGGAAAGCAGCCCCTGCTGAAGCTCTGGGAATCCCGGATGAGCACTATCTAGATAA
refcodon end ^ (but this exon should not be altered)
So this looks like VariantAnnotation incorrectly extends the REFCODON from one exon to the next, while the VARCODON extens into the (deleted part of the) intron?
Using:
VariantAnnotation_1.49.1
txdb = AnnotationHub::AnnotationHub()[["AH100643"]]
(UCSC seq styles)genome = BSgenome.Hsapiens.NCBI.GRCh38::BSgenome.Hsapiens.NCBI.GRCh38
(UCSC seq styles)I've got the following variant:
This overlaps transcript
ENST00000378230
, which has the following exons:so the deletion only partially affects exon 16, and then the intron after. The
predictCoding
function reports:The sequence of each exon listed above is:
So this looks like
VariantAnnotation
incorrectly extends theREFCODON
from one exon to the next, while theVARCODON
extens into the (deleted part of the) intron?