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sfchen avatar sfchen commented on June 19, 2024

What's the fusion partner gene of this TCF3 fusion?

Please note that, GeneFuse only detects gene fusions that both two fusion genes are listed in the CSV file.

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nvolkovaGEL avatar nvolkovaGEL commented on June 19, 2024

Hi, the fusion partners were HLF in one sample and PBX1 in the other, these fusions were experimentally confirmed by FISH. Both HLF and PBX1 were included in the fusion file along with TCF3, with the transcripts covering expected fusion junctions:
grep HLF test_fusions.csv

HLF_NM_002126,chr17:55264959-55325187

grep PBX1 test_fusions.csv

PBX1_NM_002585,chr1:164559183-164851831

grep TCF3 test_fusions.csv

TCF3_NM_003200,chr19:1609291-1652615

And these are the expected breakpoints:
sample 1:

chr19:1617928 - chr1:164683443, 59 supporting reads, TCF3-PBX1

sample 2:

chr19:1617921 - chr17:55318881, 77 supporting reads, TCF3-HLF
chr19:1617932 - chr17:55318898, 66 supporting reads, TCF3-HLF

Is there any other reason why this may be happening? Any hard coded filters on the reads/regions? Many thanks in advance!

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renyongzhe avatar renyongzhe commented on June 19, 2024

Maybe reads contained breakpoint were filtered. In such a scenario which a mismatch occurred beside the breakpoint, all kmer contained the mismatch and the breakpoint would not be traced back to a genomic position and thus caused more mismatch and be filtered eventually.

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