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Figure 6: BTK splice variants in B cell precursor leukemia
PH TH SH3 SH2 Kinase Full-length 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 Exon 18 D33 bp PH TH SH3 SH2 Kinase 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 D33 bp exon 18 PH TH SH3 SH2 Kinase DExon 14 Exon 13 D62 bp Exon 15 D77 bp Ins 8 bp 1 2 3 4 5 6 7 8 9 10 11 12 15 16 17 18 19 Stop D62 bp exon 13 D77 bp exon 15 Ins 8 bp PH TH SH3 SH2 Kinase DExon 15a 1 2 3 4 5 6 7 8 9 10 11 12 13 14 16 17 18 19 Stop DExon 16b PH TH SH3 SH2 Kinase 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 17 18 19 Stop DExons 14-15 Exon 14 D41 bp PH TH SH3 SH2 Kinase 1 2 3 4 5 6 7 8 9 10 11 12 13 14 16 17 18 19 D41 bp exon 14 Stop PH TH SH3 SH2 Kinase DExons 15-16b 1 2 3 4 5 6 7 8 9 10 11 12 13 14 17 18 19 DExons 16-17 Exon 15 D119 bp Exon 18 D136 bp PH TH SH3 SH2 Kinase 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 18 19 Stop D119 bp exon 15 D136 bp exon 18
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Figure 6, continued: BTK splice variants in B cell precursor leukemia
PH TH SH3 SH2 Kinase DExons 14-16 1 2 3 4 5 6 7 8 9 10 11 12 13 17 18 19 Stop DExons 15-17 Exon 14 D18 bp Ins 1 bp Exon 18 D34 bp PH TH SH3 SH2 Kinase 1 2 3 4 5 6 7 8 9 10 11 12 13 14 18 19 Stop D18 bp exon 14 Ins 1 bp D34 bp exon 18 PH TH SH3 SH2 Kinase DExons 14-17 1 2 3 4 5 6 7 8 9 10 11 12 13 18 19 DExons 15-18 Exon 14 D79 bp Ins 3 bp Exon 19 D24 bp PH TH SH3 SH2 Kinase 1 2 3 4 5 6 7 8 9 10 11 12 13 14 19 Stop D79 bp exon 14 Ins 3 bp D24 bp exon 19 DExons 13-17 Exon 12 D12 bp Exon 18 D92 bp PH TH SH3 SH2 Kinase 1 2 3 4 5 6 7 8 9 10 11 12 18 19 D13 bp exon 12 D92 bp exon 18 DExons 13-18 Ins 106 bp Intron 18 PH TH SH3 SH2 Intron K. Kinase 1 2 3 4 5 6 7 8 9 10 11 12 Intron 18 19 D2,084 bp D1,045 bp PH TH SH2 SH3 1 2 3 4 5 6 7 8 9 10 11 13 19 Kinase D31 bp exon 12 D22 bp exon 13 D212 bp exon 19 Stop DExons 14-18 Exon 12 D31 bp Exon 13 D22 bp Exon 19 D212 bp 12
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Legend to supplementary Figure 1:
Legend to supplementary Figure 1: BTK splice variants in B cell precursor leukemia BTK isoform expression was analyzed by RT-PCR in 29 cases of B cell precursor leukemia carrying BCR-ABL1, E2A-PBX1, MLL-AF4, TEL-AML1 or TEL-PDGFRB gene rearrangements. 14 aberrant BTK isoforms could be identified in addition to full-length BTK. None of these BTK isoforms carry a functional kinase domain resulting from the usage of regular or cryptic splice sites leading to large deletion and/or the generation of pre-terminal translation-stops. Protein domains (top) and mRNA exons (bottom) are depicted. Untranslated regions are indicated by hatched boxes. Sequence data of all splice variants is available from EMBL/GenBank under accession numbers (pending).
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