Figure 1.
AML sample list and RNAseq data collection.
A. A total of 45 AML samples were used for the analysis, including 29 normal karyotype AML, 8 abnormal karyotype AML and 8 AML without karyotype information. B. RNAseq data collected from the 45 AML cases.
Figure 2.
Fusion transcript information.
A. Fusion transcripts identified in different types of AML. B. Validated fusion transcripts identified in normal karyotype AML.
Figure 3.
The fusion is formed between upstream gene NFATC3 and downstream gene PLA2G15 in 3′-5′ tail to head orientation. In this fusion, amino acid V (GTC) is shared at the fusion point (G from NFATC3 and TC from PLA2G15). A. Wild-type NFATC3 protein sequence; B. Wild-type PLA2G15 protein sequence; C. NFATC3-PLA2G15 fusion protein sequences. The bold V residue marks the fusion junction.
Figure 4.
Validation of sense and antisense fusion transcripts by strand-specific RT-PCR.
A. Summary for RNA samples from 8 myeloid cell lines. B. CIITA-DEXI sense and antisense fusion transcripts detected in myeloid cell lines and AML samples. +: positive control with beta-actin; -: netative control without RNA templates.
Figure 5.
A. Summary of the results from 11 fusion candidates. B. Size distribution of the amplified genomic DNA fragments.
Figure 6.
A. CIITA-involved protein-protein interaction network. B. Mapping and validation of CIITA-DEXI fusion. Three CIITA-DEXI fusions were detected. In the fusion, CIITA preserved the coding exone till the stop codon but losed its 3′ untranslated region. This fusion was detected by 23 paired-end RNAseq sequences and validated by Sanger sequencing.