You can view bar graphs that
illustrate intragenic exon rearrangements in Ion Reporter™ Software.
RNA Exon Variant
graphs show exon variant read counts normalized to the wild-type. Specific exons and exon
variants are shown along the X-axis. In wild-type assays shown along the x-axis, entries are
labeled with a gene ID followed by a sequence of adjacent exons. For example, wild-type exons
six and seven of the epidermal growth factor receptor gene is represented as EFGR.E6E7. The
Y‑axis represents the read counts for each variant, normalized to the wild type.
Example analysis where an RNA exon 2–7 deletion occurred in the EFGR gene.
Normalized read counts for the EFGR variant that contains the intragenic fusion
(EGFR-EGFR.E1E8.DelPositive.2) are higher relative to the normalized read counts for
a wild type EFGR assay (EFGR.E6E7).
Example analysis where exon-skipping (i.e., exon deletion) of exon 14 in the MET
gene was detected. Normalized read counts for the variant representative of the
exon-skip event (MET‑MET.M13M15.1) are higher relative to the MET wild-type assays
(for example, MET.M13M14M15.ENST00000397752.WT and
MET.M17M18M19M20.ENST00000397752.WT).
