This example shows findings from an assessment of a sequence rearrangement with the purpose of determining the characteristics of a fusion event between the BRD4 and MYO10 genes. The identifier for the genome reference used to generate the reported result is shown in GFGENREF.
Based on the description of this example, it seems that the "predicted in-frame indicator" within row 5 is pointing to BRD4, where GFTSTDTL = 'REARRANGEMENT GENE 1'.
Would it be possible to indicate within the SDTM dataset that GFTSTDTL = 'PREDICTED IN-FRAME INDICATOR' is pointing to the gene specified in "rearrangement gene 1"? (that "rearrangement gene 1" is almost the anchor gene?)
Same comment for GFTSTDTL = 'REARRANGEMENT TYPE' of "truncation".
Row 1:
Shows the predicted impact on expression of the BRD4 and MYO10 genes caused by sequence rearrangement.
Row 2:
Shows the first gene, BRD4, involved in the fusion event. The designation (name or number) of the chromosome or contig on which the variant appears is shown in GFCHROM.The published symbol for the gene of interest is shown in GFSYM. The description of the type of genomic entity that is represented by the published symbol in GFSYM is shown in GFSYMTYP as GENE WITH PROTEIN PRODUCT. The location within a sequence for the observed value in GFORRES is shown in GFGENLOC.
Row 3:
Shows the second gene, MYO10, involved in the fusion event. The designation (name or number) of the chromosome or contig on which the variant appears is shown in GFCHROM.The published symbol for the gene of interest is shown in GFSYM. The description of the type of genomic entity that is represented by the published symbol in GFSYM is shown in GFSYMTYP as GENE WITH PROTEIN PRODUCT. The location within a sequence for the observed value in GFORRES is shown in GFGENLOC.
Row 4:
Shows the characterization or classification of the structural changes to the genes as a consequence of the sequence rearrangement BRD4 and MYO10 genes.
Row 5:
Shows the predicted effect of the sequence rearrangement on the original reading frame of the BRD4 gene.
An indication as to whether the genomic variation product retains the original reading frame, as inferred from the coding sequence.
Row 6:
Shows the read depth, the total number of times thelocus of the fusion event was sequenced.