retrieve type translocation ,deletion, duplication with fusion RNA detection tools
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6 months ago
ieie ▴ 20

Hi,

I am checking the outputs for different gene fusion tools, more precisely, Star Fusion, FusionCatcher, Arriba and Dragen. I see that in the example output that Arriba provides, it predicts the type which provide the translocation, deletion, duplication, inversion prediction.

`#gene1 gene2   strand1(gene/fusion)    strand2(gene/fusion)    breakpoint1 breakpoint2 site1   site2   type    split_reads1    split_reads2    discordant_mates    coverage1   coverage2   confidence  reading_frame   tags    retained_protein_domains    closest_genomic_breakpoint1 closest_genomic_breakpoint2 gene_id1    gene_id2    transcript_id1  transcript_id2  direction1  direction2  filters fusion_transcript   peptide_sequence    read_identifiers 
BCR ABL1    +/+ +/+ 22:23632600 9:133729451 CDS/splice-site CDS/splice-site translocation   4   7   0   4   12  high    in-frame    Mitelman    Bcr-Abl_oncoprotein_oligomerisation_domain(100%),C2_domain(100%),PH_domain(100%),RhoGEF_domain(100%)|F-actin_binding(100%),Protein_kinase_domain(100%),SH2_domain(100%),SH3_domain(100%),Variant_SH3_domain(100%)   .   .   ENSG00000186716.15  ENSG00000097007.13  ENST00000305877.8   ENST00000372348.2   downstream  upstream    .   AGCTTCTCCCTGACATCCGTGGAGCTGCAGATGCTGACCAACTCGTGTGTGAAACTCCAGACTGTCCACAGCATTCCGCTGACCATCAATAAGGAAG___ATGATGAGTCTCCGGGGCTCTATGGGTTTCTGAATGTCATCGTCCACTCAGCCACTGGATTTAAGCAGAGTTCAA|AAGCCCTTCAGCGGCCAGTAGCATCTGACTTTGAGCCTCAGGGTCTGAGTGAAGCCGCTCGTTGGAACTCCAAGGAAAACCTTCTCGCTGGACCCAGTGAAAATGACCCCAACCTTTTCGTTGCACTGTATGATTTTGTGGCCAGTGGAGATAACACTCTAAGCATAACTAAAG___GTGAAAAGCTCCGGG    SFSLTSVELQMLTNSCVKLQTVHSIPLTINKEDDESPGLYGFLNVIVHSATGFKQSS|kALQRPVASDFEPQGLSEAARWNSKENLLAGPSENDPNLFVALYDFVASGDNTLSITKGEKLR   BCR-ABL1-10,BCR-ABL1-2,BCR-ABL1-24,BCR-ABL1-28,BCR-ABL1-58,BCR-ABL1-60,BCR-ABL1-76,BCR-ABL1-12,BCR-ABL1-18,BCR-ABL1-4,BCR-ABL1-66

I have checked example outputs from Star Fusion

#FusionName            JunctionReadCount  SpanningFragCount  LeftGene                         LeftLocalBreakpoint  LeftBreakpoint     RightGene                        RightLocalBreakpoint  RightBreakpoint    SpliceType                    LargeAnchorSupport  NumCounterFusionLeft  NumCounterFusionRight  FAR_left  FAR_right  LeftBreakDinuc  LeftBreakEntropy  RightBreakDinuc  RightBreakEntropy  
FFPMTHRA--AC090627.1       88                 97                 THRA^ENSG00000126351.8           11793                chr17:38243106:+   AC090627.1^ENSG00000235300.3     21568                 chr17:46371709:+   ONLY_REF_SPLICE               YES                 24                    0                      7.44      186.00     GT              1.8892            AG               1.9656             8.6326

and FusionCatcher

ene_1_symbol(5end_fusion_partner)   Gene_2_symbol(3end_fusion_partner)  Fusion_description  Counts_of_common_mapping_reads  Spanning_pairs  Spanning_unique_reads   Longest_anchor_found    Fusion_finding_method   Fusion_point_for_gene_1(5end_fusion_partner)    Fusion_point_for_gene_2(3end_fusion_partner)    Gene_1_id(5end_fusion_partner)  Gene_2_id(3end_fusion_partner)  Exon_1_id(5end_fusion_partner)  Exon_2_id(3end_fusion_partner)  Fusion_sequence Predicted_effect 
FGFR3   TACC3   known,adjacent,oncogene,cosmic,ticdb,tcga,cell_lines,18cancers,gliomas,chimerdb3kb,chimerdb3pub,chimerdb3seq,cancer,oesophagus,10K<gap<100K 0   820 66  43  BOWTIE+BLAT;BOWTIE+STAR 4:1806934:+ 4:1727977:+ ENSG00000068078 ENSG00000013810         AGCAGCTGGTGGAGGACCTGGACCGTGTCCTTACCGTGACGTCCACCGAC*ACAGAAGAGTGACACCCGCCTCTGAGACCCTAGAAGACCCTTGCAGGACA   in-frame

However, there is no such field and I am wondering whether there is a parameter in their code to get this value or if there is a way to annotate the fusion using the outputs. Could you help me on this? thanks a lot!

fusions fusioncatcher arriba star • 343 views
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