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Fig. 9 | BMC Medical Genomics

Fig. 9

From: De novo assembly and characterization of breast cancer transcriptomes identifies large numbers of novel fusion-gene transcripts of potential functional significance

Fig. 9

Structure based functional classification of fusion transcripts. Fusion transcripts are represented by black and grey boxes; reference transcripts are represented by blue and green boxes where thick boxes represent exons, gaps represent introns and thin boxes represent the 5′ and 3′ UTRs. Functional classifications are established by comparing the reference genome alignment coordinates of chimeric transcript regions (5’UTR, coding regions or 3’UTR) of the reference transcripts involved in the fusion (spanned by the fusion transcript). a Fusion-protein- Fusion of protein coding sequences from two different annotated genes where open-reading frames remain intact; b 5′ UTR- Fusion of 5′ UTR from a gene or gene-desert region with protein coding region of another gene keeping the open-reading frame intact; c 3′ UTR – Fusion of a 5′ and protein coding region of a gene with the 3′ UTR of another gene or gene-desert region keeping the open-reading frame intact; d Cryptic splice-site- A novel splice-variant fusion where the breakpoint lies within a known intron. This group may include inter-genic and gene-desert-I fusions; e 3′ truncated-protein- Fusion transcript where the 5′ and coding (in frame) region of one gene is combined with an out-of-frame coding region of another gene or with the 3′ region of a gene-desert region; f Novel-RNA- Non-canonical chimeric transcript formation where the potential function of the transcript, if any, is unknown (e.g., 5’UTR-3’UTR fusions). This group also includes out-of-frame truncated fusion-protein transcripts

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