Entering edit mode
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!