Table 3 RNA expression patterns of coding and non-coding genes in the LD blocks of the most significant GWAS markers in mouse and human embryonic urogenital tissue.

From: A genome-wide association study with tissue transcriptomics identifies genetic drivers for classic bladder exstrophy

Mouse embryonic transcriptome data

Human embryonic transcriptome data

Marker

Gene

log2fc E10.5 vs. E12.5

log2fc E10.5 vs. 15.5

log2fc E12.5 vs. 15.5

Gene

log2fc 7 vs. 7-7.5

log2fc 7-7.5 vs. 7.5

log2fc 7 vs. 7.5

log2fc 7.5 vs. 8

log2fc 7 vs. 9

log2fc 8 vs. 9

rs1924557

LPHN2

−0.21

0.57

−1.16

LPHN2

0.16

−0.54

−0.38

0.09

−0.10

0.19

rs4745

EFNA1

−0.12

−0.76

−0.64

EFNA1

−0.25

−0.34

−0.58

0.00

−0.30

0.28

rs4745

SLC50A1

0.80

1.34

0.54

SLC50A1

0.03

0.07

0.10

−0.28

−0.18

0.00

rs4745

DPM3

0.06

0.86

0.81

DPM3

0.00

−1.72

−1.72

0.19

−0.52

1.00

rs4745

KRTCAP2

0.27

0.31

−0.04

KRTCAP2

−0.58

0.00

−0.58

0.58

−0.58

0.58

rs6874700

ISL1

−0.26

−5.01

−4.76

ISL1

−1.26

0.88

−0.38

−1.37

−1.48

0.28

11:119964758

TRIM29

1.90

1.10

−0.80

TRIM29

2.00

−1.26

0.74

0.00

1.87

1.14

rs10862001

SYT1

2.85

2.41

−0.44

SYT1

−0.25

1.04

0.79

−2.54

0.08

1.8

rs10862001

PAWR

−0.32

1.37

1.69

PAWR

0.70

0.55

1.25

−1.66

0.32

0.74

rs10853087

GOSR2

−0.16

−0.44

−0.28

GOSR2

−0.14

0.34

0.19

−0.19

−0.14

−0.14

Marker

Non-coding Gene

log2fc E10.5 vs. E12.5

log2fc E10.5 vs. 15.5

log2fc E12.5 vs. 15.5

Non-coding gene

log2fc 7 vs. 7–7.5

log2fc 7–7.5 vs. 7.5

log2fc 7 vs. 7.5

log2fc 7.5 vs. 8

log2fc 7 vs. 9

log2fc 8 vs. 9

rs6874700

HMGB1P47

n.e.

HMGB1P47

−2.00

0.00

−2.00

activated

−3.00

suppressed

rs6874700

ISL1−DT

n.e.

ISL1−DT

−1.38

0.85

−0.53

−1.8

−1.61

0.00

rs10853087

LINC01974

n.e.

LINC01974

  

n.e.

   

20:55165923

LINC01716

n.e.

LINC01716

  

n.e.

   
  1. Bold: differential expressed genes (log2fc <−1.5 or >1.5).
  2. log2fc log2 fold change, vs. versus, Chr. chromosome, n.e. not expressed. Differential expression defined with log2fc <−1,5 or >1,5.