Table 1.
HSPCs | AML | AML | NPM1mut | CBF | Splice factor mutation | ||||
---|---|---|---|---|---|---|---|---|---|
Subset | Healthy | All_dx | All_rl | NPM1 | t(8;21) | inv16 | U2AF1 | SF3B1 | SRSF2 |
Samples | 16 | 61 | 18 | 20 | 14 | 11 | 6 | 5 | 6* |
circRNAs | 6463 | 6834 | 9 052 | 6091 | 7202 | 7188 | |||
Derived from no. genes | 2949 | 3076 | 3 561 | 2932 | 3161 | 3125 | |||
Highly expressed genes | 7509 | 6681 | 13 039 | ||||||
Highly expressed genes expressing circRNAs, n (%) | 2091 (27.8) | 1842 (27.6) | 6 310 (48.4) | ||||||
circRNA abundance, median | 1.85 E-04 | 2.13 E-04 | 2.72 E-04 | 1.58 E-04 | 2.37 E-04 | 1.66 E-04 | |||
DE_linear | 4478 | 4763 | 5813 | 3625 | |||||
DE_circ | 82 | 119 | 130 | 56 | |||||
DE circRNA isoforms | 30 | 124 | 138 | 42 | |||||
DE_both | 38 | 57 | 63 | 10 | |||||
% of DE_circ | 46.3 | 47.9 | 48.5 | 23.8 |
DE, differentially expressed; DE_both, genes that differentially expressed circular and mRNA transcripts in AML vs healthy samples; DE_circ, genes that differentially expressed circRNAs in AML vs healthy samples but did not show differential expression of the parental gene; dx, diagnosis; rl, relapse.
One patient was double mutant for SF3B1 and SRSF2.