Table 2.
Comparison of mutation profile between the gDNA and mRNA of the same single cell
| Germline SNVs |
Somatic SNVs |
p value |
|||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| in exome | in mRNA* | in exome | in mRNA* | Fisher’s exact test |
|||||||||
| Genotype | total | transcribed | v | v + w | w | Genotype | total | transcribed | m | m + w | w | ||
| MEF1 | v/w | 34 | 14 | 6 | 5 | 3 | m/w | 142 | 34 | 0 | 7 | 14 | 0.00143 |
| MEF2 | v/w | 66 | 22 | 1 | 9 | 4 | m/w | 169 | 57 | 0 | 7 | 30 | 0.00076 |
| MEF3 | v/w | 51 | 29 | 5 | 6 | 8 | m/w | 141 | 46 | 0 | 1 | 11 | 0.02182 |
| MEF4 | v/w | 46 | 15 | 2 | 5 | 5 | m/w | 129 | 21 | 0 | 1 | 11 | 0.03311 |
| MEF5 | v/w | 46 | 13 | 7 | 1 | 1 | m/w | 112 | 11 | 1 | 1 | 7 | 0.00601 |
| MEF6 | v/w | 47 | 17 | 6 | 5 | 3 | m/w | 83 | 15 | 0 | 3 | 7 | 0.02147 |
| MEF7 | v/w | 40 | 12 | 3 | 0 | 2 | m/w | 90 | 16 | 0 | 0 | 7 | 0.04545 |
| Total | – | 296 | 122 | 30 | 31 | 26 | – | 724 | 200 | 1 | 20 | 87 | 1.44×10−15 |
SNVs in exon/UTR region only; allelic-specific transcription was only performed for loci with >=10 mRNA reads Since germline SNVs are present in all cells, in the total number of gSNVs, the same gSNVs could be counted multiple times.
“v”: germline variant allele; “m:” somatic mutant allele; “w”: the wild type allele;
In genome, “v/w” and “m/w” stands for heterozygous germline variance and somatic mutation, respectively; “v/v” and “m/m” stands for homozygous germline variance and somatic mutation, respectively;
For mRNAs,”v” and “m” stands for mRNAs solely transcribed from the variant/mutant allele; “v+w” and “m+w” stands for mRNAs transcribed from both variant/mutant and wild type alleles. “w” stands for mRNAs solely transcribed from the wild type allele.