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Table 2 Imprinted control genes, expression threshold and analysis by our statistical ASE test on the Illumina array.

From: High-throughput analysis of candidate imprinted genes and allele-specific gene expression in the human term placenta

SNP ID

Gene

Chr

Average intensity across all samples

Total number of heterozygous samples (hets)

Hets showing ASE: p < 0.01 & |lfc|>0.585

Percentage of hets which show ASE

rs2075745

H19

11

14.01

12

12

100%

rs1860565

PEG3

19

13.63

9

9

100%

rs1802710

DLK1

14

13.57

15

14

93%

rs3730171

GNAS

20

13.54

1

0

0%†

rs2839702

H19

11

13.48

11

11

100%

rs998075

IGF2R

6

12.78

13

0

0%*

rs8100247

ZNF331

19

12.61

13

12

92%

rs9373409

PLAGL1

6

12.48

11

9

82%

rs13390

PHLDA2

11

12.33

2

2

100%

rs10863

MEST

7

12.32

4

4

100%

rs12982082

ZNF331

19

12.27

12

10

83%

rs13073

PEG10

7

12.09

11

10

91%

rs8386

GNAS

20

11.97

1

0

0%†

rs1055359

PEG3

19

11.8

10

10

100%

rs1003483

IGF2AS

11

11.32

8

7

88%

rs854541

PPP1R9A

7

11.2

13

0

0%

rs2285185

L3MBTL

20

10.97

10

1

10%

rs2171492

CPA4

7

10.57

12

0

0%

rs2071970

L3MBTL

20

10.51

11

0

0%

rs854524

PPP1R9A

7

10.41

10

0

0%

rs8234

KCNQ1

11

10.18

10

0

0%

rs1049846

PLAGL1

6

10.06

13

3

23%

rs1800504

GRB10

7

9.98

14

0

0%

rs3741208

IGF2AS

11

9.67

10

0

0%

rs367035

SLC22A18

11

9.09

13

0

0%

rs3816800

ATP10A

15

9.09

15

0

0%

rs1570070

IGF2R

6

9.06

0

0

0%

rs1800900

GNAS

20

8.86

9

2

22%

rs2066710

ATP10A

15

8.8

16

0

0%

  1. Imprinted genes tested on the array are listed alongside the exonic SNP used and the intensity obtained for the cDNA (average log2 fluorescence for the 23 placentas). The fore last column shows the number of heterozygous samples that are significant for ASE (p < 0.01) and that have a good probe hybridisation signal on the array (absolute log-fold change (lfc) >0.58). Examination of the last column (percentage of heterozygous placentas which exhibit statistically significant ASE) shows the difference for reliable detection of imprinting above or below the 11.25 average intensity threshold. *IGF2R is known to be biallelically expressed in human term placenta. †The two heterozygous GNAS placentas showed biallelic expression.