Table 2 The 38 SDV from the Var.GWAS dataset validated using Vex-seq

From: Functional impact of splicing variants in the elaboration of complex traits in cattle

Chr

Position

rsID

REF

ALT

Gene symbol

Breeda

F(ALT)b

ΔPSI(H)

ΔPSI(M)

7

19984038

rs133242826

G

A

PIAS4

CHA

0.205

30.4

49.4

4

76710798

rs385063917

T

A

PPIA

NOR

0.113

N.S.

35.4

3

15041705

rs109482780

C

A

MSTO1

HOL

0.629

N.S.

18.0

5

91787772

rs135835897

C

A

PIK3C2G

MON

0.086

N.S.

16.0

18

44900183

rs136188475

A

G

WTIP

HOL

0.146

10.5

N.S.

3

15541059

rs135598974

T

C

ADAM15

HOL / MON

0.044 / 0.015

8.6

9.4

7

17999133

rs477089248

G

A

DENND1C

CHA

0.143

N.S.

8.7

3

16482608

rs135482846

T

A

CRTC2

HOL

0.126

6.0

10.2

14

687854

rs135457327

G

A

MROH1

NOR

0.066

7.4

N.S.

14

610004

rs134725785

G

A

DGAT1

NOR

0.068

7.0

N.S.

6

85424552

rs137349211

C

T

CSN1S1

NOR

0.290

N.S.

6.5

6

85537562

rs108967182

C

T

CSN1S2

MON / NOR

0.682 / 0.726

6.4

N.S.

15

77122984

rs109702869

T

C

ACP2

CHA

0.647

5.2

N.S.

20

33456383

rs133343716

C

T

MROH2B

HOL

0.305

N.S.

−6.1

14

446321

rs450686754

C

T

PPP1R16A

NOR

0.095

N.S.

−6.4

6

85428068

rs133474041

G

A

CSN1S1

NOR

0.295

N.S.

-6.8

6

85199301

rs208961079

C

T

SULT1B1

NOR

0.181

8.7

−24.4

6

83318905

rs209655753

G

A

STAP1

NOR

0.189

−8.1

N.S.

5

119386807

rs379016630

G

T

IL17REL

MON

0.143

−7.3

−9.6

2

1268402

rs382712574

G

A

TUBGCP5

CHA

0.101

−8.5

N.S.

6

36314103

rs110299924

G

A

HERC6

HOL

0.012

−7.0

−10.7

14

64187085

rs210809388

A

G

SPAG1

HOL

0.607

−8.9

N.S.

6

85468855

rs109381664

G

A

HSTN

HOL

0.353

N.S.

−9.0

11

103405870

rs133821799

G

T

CAMSAP1

HOL

0.708

−5.9

−12.3

14

1107890

rs458188308

C

T

PYCR3

HOL

0.075

N.S.

−11.1

20

32759553

rs208833611

C

T

OXCT1

HOL

0.693

N.S.

−11.5

6

85534747

rs110808655

T

C

CSN1S2

HOL

0.360

−12.3

N.S.

14

3033158

rs208093012

T

G

PTK2

MON

0.024

N.S.

−13.5

14

1044777

rs110323635

G

A

MAPK15

HOL / MON

0.538 / 0.270

−15.1

−11.8

18

44773142

rs41881032

G

A

GARRE1

HOL

0.829

N.S.

−15.2

14

1042664

rs473875358

G

A

MAPK15

NOR

0.034

−16.2

−15.0

6

36313547

rs110574592

G

T

HERC6

HOL

0.011

−24.6

−13.1

25

1684457

rs462748617

G

T

RAB26

CHA

0.079

−18.9

−20.1

19

61806013

rs383537478

C

T

ARSG

NOR

0.182

N.S.

−20.2

15

77368805

rs136792188

C

T

PTPMT1

CHA

0.405

N.A.

−25.4

14

1042682

rs109948623

A

G

MAPK15

HOL

0.524

−48.5

−21.5

14

1007601

rs110502044

G

A

IQANK1

HOL

0.273

−34.9

−43.9

19

40038954

rs133000623

T

C

STARD3

HOL

0.133

−41.3

−39.6

  1. Only significant ΔPSI values are indicated (FDR <0.01).
  2. NS not significant, NA not available, H HEK293T, M MAC-T.
  3. aCorresponds to the breed in which an association between the SDV and one or more phenotypes was measured.
  4. bCorresponds to the frequency of the alternative allele in this breed.