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Table 1 Recently mobile subfamilies (Q ≤ 1e-3) and their disease associations

From: Transposable elements that have recently been mobile in the human genome

Row number TE subfamily Avg. divergence (%) Human specific of instances True indel matches (pMEIs) Expected indel matches Fold enrichment FDR (Q-value) Disease pMEIa (germline) Tumour pMEIb (somatic)
1 AluY 3.1 1986 259 0.63 412 ~  0 7 28
2 AluYb8 1.3 2205 415 0.98 424 ~  0 14 22
3 AluYa5 0.9 3091 705 1.56 451 ~  0 25 35
4 L1HS 0.9 1180 142 0.68 210 5.4E-257 25 10,544
5 AluYb9 0.9 246 61 0.13 459 2.9E-126 5 23
6 AluYf4 2.1 274 53 0.12 446 2.8E-109   2
7 AluYg6 1.3 378 49 0.11 450 3.1E-101   4
8 AluYc 4.6 196 21 0.06 372 5.1E-42 4 5
9 AluYa8 1.6 111 19 0.04 496 1.0E-39   5
10 SVA_F 5.9 516 15 0.12 128 2.2E-24 6 11
11 AluYd8 1.1 152 11 0.03 321 1.9E-21   
12 AluYk12 1.2 73 10 0.02 413 2.7E-20   
13 AluYk11 1.8 71 9 0.03 319 1.5E-17   
14 L1PA2 1.8 2157 16 0.54 29 8.9E-17   
15 LTR5_Hs 2.2 142 9 0.04 223 1.6E-16   
16 SVA_E 5.0 191 8 0.04 198 2.3E-14 6 6
17 AluYh9 4.9 24 6 0.02 298 1.4E-11   1
18 SVA_D 4.1 980 7 0.20 35 7.0E-08   5
19 L1P1 3.6 266 3 0.04 71 3.9E-04   
20 AluYk4 4.3 34 2 0.00 496 5.6E-04   
  1. a Hancks, D. C., & Kazazian, H. H. (2016). Roles for retrotransposon insertions in human disease. Mobile DNA, 7(1), 9
  2. bRodriguez-Martin, B. et.al. (2020). Pan-cancer analysis of whole genomes identifies driver rearrangements promoted by LINE-1 retrotransposition. Nature Genetics, 52(3), 306–319