Skip to main content

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