Supplementary Figure 2A. A. ZMYM6-variant missing Exon 2 C. ZMYM6-variant missing Exon 4 B. ZMYM6-variant missing Exon 5 D. ZMYM6-variant missing Exons.

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Supplementary Figure 2A. A. ZMYM6-variant missing Exon 2 C. ZMYM6-variant missing Exon 4 B. ZMYM6-variant missing Exon 5 D. ZMYM6-variant missing Exons 4 & 5 Exon 6Exon 3 Exon 6Exon 4 Exon 5Exon 3 Exon 1 E. TRAP150-variant missing Exon 4 Exon 3Exon 5 A G A A G G A G C A T C G A A A C T C G A T A T T G A G A C A TT A T T G A C T C G C T G A G G T A T T C T Exon 15Exon 17 F. CYFIP1-E16 (variant 1 missing Exon 16) C A C T C A G A A A C G C T

Supplementary Figure 2S. Novel alternatively spliced isoforms. A. Sequence confirmation of six novel splice junctions identified for CYFIP1, ZMYM6, and TRAP150. Multiple ZMYM6 variants were detected using a forward primer located in exon 1 and a reverse primer in exon 6. This RT-PCR assay detected five alternatively spliced variants (exon 2 missing, exon 4 missing, exons 2 & 4 missing, exons 2 & 5 missing, and exons 2 & 4 & 5 missing). Two new splice variants were also detected for the TRAP150 (missing exon 4) and CYFIP1 (missing exon 16) genes. Electropherograms show exon junction sequences representing the observed novel alternatively spliced isoforms for ZMYM6 (A-D) ZMYM6, (E) CYFIP1 (missing exon 16), and (F) TRAP150 (missing exon 4).

Probe ID-Exon array Exon Suppl. Figure 2B.

Supplementary Figure 2S. Novel alternatively spliced isoforms. B. Alternatively spliced variants of CYFIP1, ZMYM6, and TRAP150 identified by RT-PCR and DNA sequencing. Probe set and start codon locations are labeled for the schematic representation of each gene variant. This illustration summarizes how follow up RT-PCR experiments on selected differentially expressed exons resulted in the identification of alternatively spliced isoforms.