Table 3. Validation frequencies of KLK8-KLK7 and S100A2 junctions.
Gene | Chromosome | Pos 1 | Pos 2 | Distance | RACE-Seq* | TCGA_tumor* | TCGA_normal* | CCLE* | Body map |
---|---|---|---|---|---|---|---|---|---|
KLK8-KLK7 | 19 | 51485170 | 51504353 | 19183 | 10/22 (45%) | 6/24 (25%) | 0/24 | 15/56 (27%) | 1/16† |
S100A2 | 1 | 153536357 | 153537981 | 1624 | 16/22 (73%) | 14/24 (58%) | 0/24 | 33/56 (59%) | 1/16† |
The novel junctions covering the read-through of KLK8 and KLK7 and the alternative 3′ splice site of S100A2 were discovered from the RACE-seq data. The junctions were validated by aligning all RACE-seq sequences and external data sets from the TCGA and the CCLE.
The number of reads for the junctions to be considered positive were >10, >=2 and >= 1 for the RACE-seq, CCLE and TCGA tumor/normal data sets, respectively.
From the Illumina Human body map data set, one read covering the KLK8-KLK7 read-through was identified in normal breast tissue, and 12 reads were found to cover the S100A2 alternative splice site in normal lung tissue.