BRCA2 alternate mRNA splicing events identified in phase Ia
| Phase Ia | ||||||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Alternate BRCA2 splice event | mRNA position | Coverage | Detection rate (%) | Evidence | QA | LEUs | PBMCs | PBLs | LCLs | BREAST |
| Δ2 | r.38_67del106 | 61 | 28 | Seq | Minor | 0/13 | 0/8 | 11/19 | 6/20 | 0/1 |
| Δ3 | r.68_316del249 | 102 | 97 | Seq | Predominant | 34/34 | 16/16 | 17/19 | 31/32 | 1/1 |
| Δ3,4 | r.68_425del359 | 85 | 51 | Seq | Minor | 13/31 | 8/16 | 7/17 | 15/20 | 0/1 |
| Δ3–7 | r.68_631del564 | 30 | 70 | Seq | Minor | not tested | 5/8 | 2/7 | 12/15 | Not tested |
| Δ4 | r.317_425del109 | 91 | 16 | Seq | Minor | 0/31 | 3/16 | 2/17 | 10/26 | 0/1 |
| Δ4–7 | r.317_631del315 | 52 | 63 | Seq | Minor | 5/20 | 7/8 | 6/7 | 15/16 | 0/1 |
| Δ5 | r.426_475del50 | 89 | 24 | Seq | Minor | 2/39 | 4/16 | 4/7 | 10/26 | 1/1 |
| Δ5,6 | r.426_516del91 | 97 | 3 | Inferred | Minor | 2/32 | 0/16 | 0/7 | 1/41 | 0/1 |
| Δ5–7 | r.426_631del206 | 104 | 31 | Seq | Minor | 3/39 | 8/16 | 5/7 | 15/41 | 1/1 |
| Δ6 | r.476_516del41 | 104 | 17 | Inferred | Minor | 17/39 | 0/16 | 0/7 | 0/41 | 1/1 |
| Δ6q,7 | r.478_631del154 | 108 | 100 | Seq | Predominant | 39/39 | 16/16 | 11/11 | 41/41 | 1/1 |
| Δ12 | r.6842_6937del96 | 36 | 83 | Seq | Predominant | 8/13 | 5/8 | 10/10 | 6/6 | 1/1 |
| Δ12,13 | r.6842_7007del166 | 33 | 3 | Inferred | Minor | 1/13 | 0/8 | 0/7 | 0/4 | 0/1 |
| Δ17 | r.7806_7976del171 | 95 | 8 | Seq | Minor | 034 | 0/16 | 0/24 | 7/20 | 1/1 |
| Δ17,18 | r.7806_8331del526 | 125 | 100 | Seq | Predominant | 44/44 | 16/16 | 26/26 | 38/38 | 1/1 |
| Δ18 | r.7977_8331del355 | 124 | 99 | Seq | Minor | 43/43 | 16/16 | 25/26 | 38/38 | 1/1 |
| Δ19 | r.8332_8487del156 | 101 | 34 | Seq | Minor | 1/34 | 5/16 | 9/22 | 18/29 | Not tested |
| Δ20 | r.8488_8632del145 | 79 | 20 | Seq | Minor | 2/19 | 2/16 | 3/20 | 8/23 | 1/1 |
| ▾20A | r.8632-r.8633ins8633–1327_8633-1264 | 83 | 47 | Seq | Minor | 4/21 | 7/16 | 3/20 | 25/25 | 0/1 |
| Δ22 | r.8755_8953del199 | 92 | 70 | Seq | Minor | 28/33 | 16/16 | 11/20 | 9/22 | 0/1 |
| Δ22,23p | r.8755_9004del250 | 86 | 63 | Seq | Minor | 27/33 | 15/16 | 3/18 | 9/19 | Not tested |
| Δ23p | r.8954_9004del51 | 87 | 14 | Inferred | Minor | 0/36 | 5/16 | 5/14 | 7/21 | Not tested |
mRNA positions (Human Genome Variation Society (HGVS) nomenclature), coverage (the number of times an alternate-splicing event was assessed, including multiple assessments of the same sample), detection rates (number of positives divided by the coverage) and methods are indicated.
Predominant alternate-splicing events are indicated in bold. Grey boxes indicate a positive detection for alternate-splicing event.
BREAST, breast tissue; LCL, lymphoblastoid cell lines; LEU, whole blood leucocytes; PBL, peripheral blood lymphocytes; PBMC, peripheral blood mononuclear cells; QA, qualitative abundance; seq, direct sequencing.