Table 1

Top thirty DS dosage effects on A) HSA21 and B) other chromosomes

A) Direct effects


Ensembl

HUGO

Score

Entropy

Chromo-some

Start

position

End

position

Band

CNV


ENSG00000154734

ADAMTS1

18.487

4.083

chr21

28208606

28217728

q21.3

ENSG00000159228

CBR1

17.518

4.509

chr21

37442239

37445464

q22.12

ENSG00000159140

SON

15.920

4.712

chr21

34914924

34949812

q22.11

ENSG00000142168

SOD1

15.817

4.372

chr21

33031935

33041244

q22.11

ENSG00000182670

TTC3L, TTC3

15.637

4.542

chr21

38445526

38575413

q22.13

ENSG00000142192

APP

15.489

4.412

chr21

27252861

27543446

q21.3

ENSG00000159128

IFNGR2

15.006

4.640

chr21

34757299

34851655

q22.11

ENSG00000182240

BACE2

14.156

4.140

chr21

42539728

42648524

q22.2

ENSG00000156256

USP16

13.713

4.378

chr21

30396950

30426809

q21.3

ENSG00000159131

GART

13.570

4.564

chr21

34870940

34915797

q22.11

ENSG00000157540

DYRK1A

13.163

4.405

chr21

38739236

38887680

q22.13

ENSG00000157557

ETS2

13.088

4.440

chr21

40177231

40196879

q22.2

ENSG00000159231

CBR3

12.185

3.954

chr21

37507210

37518864

q22.12

YES

ENSG00000159082

SYNJ1

11.880

4.284

chr21

33997269

34100359

q22.11

ENSG00000142188

TMEM50B

11.516

3.803

chr21

34804792

34853499

q22.11

YES

ENSG00000159110

IFNAR2

11.280

4.360

chr21

34602206

34656082

q22.11

ENSG00000157538

DSCR3

11.254

4.316

chr21

38591910

38640262

q22.13

ENSG00000157601

MX1

10.976

3.545

chr21

42792231

42831141

q22.3

ENSG00000159267

HLCS

10.764

4.183

chr21

38123493

38362536

q22.13

YES

ENSG00000159200

RCAN1

10.719

3.356

chr21

35885440

35987441

q22.12

ENSG00000159147

DONSON

10.435

4.295

chr21

34947783

34961014

q22.11

ENSG00000156261

CCT8

10.361

4.560

chr21

30428126

30446118

q21.3

ENSG00000183486

MX2

10.179

3.598

chr21

42733870

42781317

q22.3

ENSG00000154727

GABPA

9.936

4.032

chr21

27106881

27144771

q21.3

ENSG00000160200

CBS

9.284

3.907

chr21

44473301

44497053

q22.3

ENSG00000159216

RUNX1

9.129

3.783

chr21

36160098

37357047

q22.12

ENSG00000183527

PSMG1

8.903

3.733

chr21

40546695

40555777

q22.2

ENSG00000182093

WRB

8.837

4.149

chr21

40752170

40800454

q22.2

ENSG00000154736

ADAMTS5

8.746

4.221

chr21

28290231

28338832

q21.3

ENSG00000159197

KCNE2

8.654

3.660

chr21

35736323

35743440

q22.11

YES


B) Indirect effects


Ensembl

HUGO

Score

Entropy

Chromo-some

Start

position

End

position

Band

CNV


ENSG00000117289

TXNIP

8.790

3.281

chr1

145438469

145442635

q21.1

YES

ENSG00000133110

POSTN

8.301

2.437

chr13

38136722

38172981

q13.3

YES

ENSG00000118785

SPP1

7.232

3.159

chr4

88896802

88904563

q22.1

ENSG00000113140

SPARC

7.035

3.338

chr5

151040657

151066726

q33.1

ENSG00000125968

ID1

6.987

3.164

chr20

30193086

30194318

q11.21

ENSG00000136235

GPNMB

6.943

2.047

chr7

23275586

23314727

p15.3

ENSG00000171951

SCG2

6.747

2.950

chr2

224461658

224467221

q36.1

ENSG00000135821

GLUL

6.604

3.702

chr1

182350839

182361341

q25.3

ENSG00000123610

TNFAIP6

6.575

2.377

chr2

152214106

152236560

q23.3

ENSG00000118523

CTGF

6.567

2.996

chr6

132269316

132272513

q23.2

ENSG00000168209

DDIT4

6.477

3.318

chr10

74033678

74035794

q22.1

ENSG00000162407

PPAP2B

6.350

3.343

chr1

56960419

57110974

p32.2

ENSG00000038427

VCAN

6.240

2.958

chr5

82767284

82878122

q14.2

ENSG00000151491

EPS8

6.194

3.143

chr12

15773076

15942510

p12.3

ENSG00000189067

LITAF

6.185

3.255

chr16

11641582

11680806

p13.13

ENSG00000164692

COL1A2

6.148

2.852

chr7

94023873

94060544

q21.3

ENSG00000204388

HSPA1B

6.109

2.550

chr6

31795688

31798031

p21.33

ENSG00000162692

VCAM1

6.012

2.533

chr1

101185305

101204601

p21.2

ENSG00000154096

THY1

5.974

3.244

chr11

119288888

119293854

q23.3

ENSG00000135919

SERPINE2

5.904

3.048

chr2

224839765

224904036

q36.1

ENSG00000172201

ID4

5.887

3.037

chr6

19837617

19840915

p22.3

ENSG00000114315

HES1

5.884

2.874

chr3

193853934

193856521

q29

ENSG00000172893

DHCR7

5.883

3.441

chr11

71145457

71159477

q13.4

ENSG00000204262

COL5A2

5.857

3.174

chr2

189896622

190044605

q32.2

ENSG00000149257

SERPINH1

5.846

3.146

chr11

75273170

75283844

q13.5

ENSG00000176697

BDNF

5.805

2.416

chr11

27676440

27743605

p14.1

ENSG00000182551

ADI1

5.782

3.081

chr2

3501693

3523507

p25.3

ENSG00000079739

PGM1

5.661

3.251

chr1

64058947

64125916

p31.3

ENSG00000108821

COL1A1

5.527

3.004

chr17

48260650

48278993

q21.33

ENSG00000187498

COL4A1

5.514

3.396

chr13

110801318

110959496

q34


Vilardell et al. BMC Genomics 2011 12:229   doi:10.1186/1471-2164-12-229

Open Data