Table 3.
Splice event | Deletion/Inclusion | Size (bp) | Position | Observed in KIR genes | Result | |
---|---|---|---|---|---|---|
High coverage | Alt. 5′ ss | Deletion | 209 | End exon 4 | 3DL20 | Out-frame; Stopcodon introduced |
Alt. 3′ ss + Alt. 5′ ss | Deletion | 48 | In exon 5 | 3DL05, 3DL08, 3DS02 | In-frame; Missing 16 AA in the beginning of the D2 domain | |
Exon skipping | Deletion | 345 | Exons 5 + 6 | 3DL20 | Missing the D2 domain and stem region | |
Additional families | Alt. 3′ ss + Alt. 5′ ss | Deletion | 97 | In exon 4 | 3DL02, 3DSw08, 3DSw09 | Out-frame; Stopcodon introduced |
Alt. 3′ ss | Deletion | 79 | Start exon 5 | 3DL10A/3DL08, 3DL11 | Out-frame; Stopcodon introduced. 3DL11*009: ORF restored in cytoplasmic tail | |
Alt. 3′ ss + Alt. 5′ ss | Deletion | 112 | Parts exons 4 + 5 | 3DL07, 3DL11 | Out-frame; Stopcodon introduced | |
Exon skipping | Deletion | 645 | Exons 4 + 5+ 6 | 3DL05, 3DL20 | Missing D1 and D2 domains, and stem region |
Three additional splice events were confirmed (≥10 PacBio reads, or confirmed in two macaques). Also, the alternative splicing profiles of three additional families, consisting of 25 rhesus macaques in total, were characterized. Only a single splice event was identified that was not observed in the main dataset, whereas three previously observed, but not confirmed, splicing events (italics) were confirmed by the additional rhesus macaque families.