All final results are stored in this directory:
$ cd /out_directory/final_fusion_genes/sample-ID_or_patient-ID/
Column_NO. Descriptions
1 up stream fusion gene (5' partner)
2 chromosome of up stream fusion partner
3 strand of up stream fusion partner
4 genome junction position of up stream fusion partner
5 location of up stream fusion partner's junction point
6 down stream fusion gene (3' partner)
7 chromosome of down stream fusion partner
8 strand of down stream fusion partner
9 genome junction position of down stream fusion partner
10 location of down stream fusion partner's junction point
11 number of span-reads (details in sample-ID.final.Span_reads)
12 number of junc-reads (details in sample-ID.final.Junc_reads)
13 classification of fusions
14 whether down stream fusion partner is frame-shift or in-frame-shift
Column_NO. Descriptions
1 up stream gene (5' partner)
2 up stream transcript isoform
3 chromosome of up stream fusion partner
4 strand of up stream fusion partner
5 transcript junction position of up stream fusion partner
6 genome junction position of up stream fusion partner
7 location of up stream fusion partner's junction point
8 down stream gene (3' partner)
9 down stream transcript isoform
10 chromosome of down stream fusion partner
11 strand of down stream fusion partner
12 transcript junction position of down stream fusion partner
13 genome junction position of down stream fusion partner
14 location of down stream fusion partner's junction point
15 number of span-reads (details in sample-ID.final.Span_reads)
16 number of junc-reads (details in sample-ID.final.Junc_reads)
17 classification of fusions
18 whether down fusion partner is frame-shift or in-frame-shift
19 type of up stream fusion isoforms
20 type of down stream fusion isoforms
21 the area where up stream juction point locates
22 the area where down stream juction point locates
23 whether the up stream isoform has the start codon (in database)
24 whether the up stream isoform has the stop codon (in database)
25 whether the down stream isoform has the start codon (in database)
26 whether the down stream isoform has the stop codon (in database)
27 whether the fusion structure has the stop codon
28 the information of fusion peptide chain
In For_RT-PCR_validation directory
a. sample-ID_or_patient-ID.trans.fused.seq.for.RT-PCR
This text file contains the bilateral segment around junction point of each fusion transcript. It
is corresponding to the sample-ID_or_patient-ID.final.Fusion.specific.for.trans file. The up
stream segment is separated with the down stream segment with vertical line '|'. The segments are
very useful for users to construct the primers for their further RT-PCR validation experiments
of concerned fusion events. It has been proved useful and correct by several fusion research
projects in BGI.
Format:
Column_NO. Descriptions
1 fusion event specific for genes
2 fusion event specific for transcript isoforms
3 bilateral fusion segments separated by '|'
In For_peptides_analysis directory
a. sample-ID_or_patient-ID.trans.fusion.peptide.chain
This text file contains the predicted fusion peptide chains corresponding to all fusion
transcripts that are annotated as 'inframe-shift' in sample-ID_or_patient-ID.final.
Fusion.specific.for.trans file. You can use the peptide chain string to study the domain
regions in iprscan website.
Format:
Column_NO. Descriptions
1 fusion event specific for transcript isoforms
2 whole fusion segment
3 fusion peptide chain string
In figures directory
a. fusions_expression sub-directory
This sub-directory contains the so-called 'SOAPfuse fusion figure' (svg/png) of each fusion
events. This figure merges the old fusion figure and gene expression figure (in v1.22), clearly
showing the transcript junction point, genome junction point and supporting reads alignment. It
is useful for users to select the interesting fusion events.
Set config parameter 'PA_s09_draw_fusion_expression_svg' as 'yes', and enjoy this figure.
click here for more information about SOAPfuse fusion figure.
click here to see one instance of TMPRSS2-ERG from one prostate cancer sample.
click here to see one instance of somatic KIF5B-RET from one lung cancer patient.
Note:
'SOAPfuse fusion figure' is totally designed and achieved by Wenlong Jia in BGI. We will
apply for a patent for this figure.
b. landscape_of_fusions sub-directory
This sub-directory contains the so-called 'SOAPfuse 3D landscape figure of fusion' (svg/png)
of concerned sample/patient. This figure displays all detected fusion events in 3D pillar array.
Fusion events are shown with SOAPfuse-score, Fusion-type, inframe-shift-or-not,
fused-at-exon-edge-or-not and whether-is-somatic (in somatic running mode). It is also useful
for users to select the interesting fusion events.
click here for more information about SOAPfuse 3D landscape figure of fusion.
click here to see one instance of one prostate cancer sample harboring TMPRSS2-ERG.
click here to see one instance of one lung cancer patient harboring somatic KIF5B-RET.
Note:
'SOAPfuse 3D landscape figure of fusion' is also totally designed and achieved by Wenlong Jia
in BGI. Using 3D scale to display bioinformatic value distribution is common, but to our knowledge,
this is the first time that it is used in the fusion gene research.