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Table 1 Most consistently dysregulated chromosome 21 genes based on their p-values from ANOVA and after 5% false discovery rate cut-off

From: Primary and secondary transcriptional effects in the developing human Down syndrome brain and heart

Gene name

Accession number

Chromosome number

p value (ANOVA)

Cerebrum

Cerebellum

Astrocyte

Heart

    

Control

TS21

Control

TS21

Control

TS21

Control

TS21

Pituitary tumor-transforming 1 interacting protein (PTTG1IP)

NM_004339

21

1.50E-07

582.6

888.1

830.9

1176.9

2355.5

3896.0

1153.0

2003.5

ATP synthase, H+ transporting, mitochondrial F1 complex, O subunit (ATP5O)

NM_001697

21

5.11E-07

1509.0

2553.5

1331.5

2327.1

1552.9

2086.3

2375.0

4002.1

SH3 domain binding glutamic acid-rich protein (SH3BGR)

NM_007341

21

7.12E-07

20.5

44.5

21.2

48.4

38.2

130.2

606.8

1937.5

ATP synthase, H+ transporting, mitochondrial F0 complex, subunit F6 (ATP5J)

NM_001685

21

2.47E-06

624.4

1148.8

723.1

1013.6

881.3

1331.5

916.4

2046.7

Down syndrome critical region gene 3 (DSCR3)

NM_006052

21

1.44E-05

51.7

94.3

49.8

92.6

49.7

169.0

72.9

71.1

Chromosome 21 segment HS21C048, zinc finger protein 294 (ZNF294)

NM_015565

21

3.39E-05

165.7

283.0

161.6

228.9

78.6

127.8

107.5

178.0

Superoxide dismutase 1 (SOD1)

NM_000454

21

5.62E-05

1176.2

2493.4

1816.7

2860.4

2482.7

3853.6

1789.7

3110.8

ATP synthase, H+ transporting, mitochondrial F1 complex, O subunit (ATP5O)

NM_001697

21

6.94E-05

203.7

335.9

219.1

342.7

124.5

258.4

342.4

521.4

Cystatin B (stefin B) (CSTB)

NM_000100

21

7.75E-05

412

695.0

584.6

868.9

855.1

1007.3

797.4

1034.7

Phosphofructokinase, liver (PFKL)

BC006422

21

1.93E-04

411

476.9

255.8

492.1

247.3

397.9

390.0

433.1

Pyridoxal (pyridoxine, vitamin B6) kinase (PDXK)

NM_003681

21

2.82E-04

50.3

137.4

70.1

149.4

118.4

261.6

96.6

139.3

Collagen, type VI, alpha 1 (COL6A1)

AA292373

21

5.04E-04

559.4

963.1

1019

1417

573.7

834.4

3003.5

4177.7

Transmembrane protein 1 (TMEM1)

U61500

21

5.25E-04

68.4

83.6

45.0

90.8

34.5

88.5

6.6

62.8

Ubiquitin specific protease 16 (USP16)

NM_006447

21

5.33E-04

189.8

318.8

223.1

306.5

272.5

513.4

180.0

320

SMT3 suppressor of mif two 3 homolog 1 (yeast) (SMT3H1)

NM_006936

21

6.27E-04

704.0

1181.5

823.4

1233.1

698.7

1092.9

484.6

676.5

SON DNA binding protein (SON)

X63071

21

7.28E-04

701.5

975.7

807.4

870.3

781.2

1181.3

761.7

924.7

Mitochondrial ribosomal protein L39 (MRPL39)

NM_017446

21

7.48E-04

195.2

281.5

256.7

266.2

250.6

310.1

274.1

385.9

Interferon gamma receptor 2 (IFNGR2)

NM_005534

21

8.16E-04

553.5

754.3

507.5

692.0

881.2

1307.9

639.5

811.15

Human homolog of ES1 (zebrafish) protein (C21orf33)

D86062

21

1.02E-03

175.5

260.5

163.5

280.1

190.0

202.1

188.4

374.7

Chaperonin containing TCP1, subunit 8 (theta) (CCT8)

NM_006585

21

1.45E-03

1098

1520.4

743.6

956.3

619.0

1200.8

615.1

1089.8

Chromosome 21 open reading frame 108 (C21orf108)

AI803485

21

1.53E-03

52.5

101.9

61.9

91.8

60.7

105.4

25.6

71.3

Tryptophan rich basic protein (WRB)

NM_004627

21

2.18E-03

759.6

1439.2

926.4

1182.4

728.6

1336.5

291.9

566.5

SMT3 suppressor of mif two 3 homolog 1 (yeast) (SMT3H1)

BG338532

21

3.15E-03

204.0

274.6

186.6

294.2

252.2

352.2

157.3

263.7

HMT1 hnRNP methyl-transferase-like 1 (HRMT1L1)

NM_001535

21

3.62E-03

670.0

920.5

584.2

843.2

489.1

471.6

363.0

525.2

Human homolog of ES1 (zebrafish) protein (C21orf33)

NM_004649

21

4.00E-03

491.8

818.2

589.7

918.9

455.9

665.6

713.3

1039.4

Stress 70 protein chaperone, microsome-associated, 60 kDa (STCH)

AI718418

21

4.43E-03

276.2

477.5

289

308.5

418.2

738.6

59.0

111.4

  1. The average expression values are for the probe sets corresponding to the genes (from MAS5 software). Two genes (ATP5O and C21orf33) each have two probe sets on this list. TS21, trisomy 21.