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Table 1 Genes and miRNAs significantly associated with the presence of trisomy 8

From: Constitutional trisomy 8 mosaicism as a model for epigenetic studies of aneuploidy

Gene/RNA symbols

Chr positiona

Function/process/componenta

Fold changeb

DES

2q35

Cytoskeleton

11.8762965

CHSY3

5q23.3

Transferase

2.6232108

EDNRA c

4q31.22

G-protein coupled receptor activity

2.55418755

CRYAB c

11q23.1

Small heat shock protein

2.3484328

KCTD20

6p21.31

Ion transport

2.33678525

SCRN1

7p14.3

Exocytosis

2.09512935

POPDC2

3q13.33

Membrane associated protein

2.0460034

LDB3

10q23.2

Cytoskeleton

2.0369906

ZNF185

Xq28

Protein-protein interactions

2.03330695

LRP12 c

8q22.3

Lipoprotein receptor related protein

1.936707

AGPAT6 c

8p11.21

Transferase

1.72648325

ENTPD4 c

8p21.2-21.3

Hydrolase

1.7125851

RAB3GAP2

1q41

Exocytosis

1.6605436

COX6C

8q22.2

Respiratory electron transport chain

1.63403665

TNFRSF10A

8p21.3

Apoptosis

1.6329978

MIR151

8q24.3

Post-transcriptional regulation

1.6319659

FNBP1

9q34.11

Protein binding

1.59805445

TNKS

8p23.1

Transferase

1.5799036

RAB2A

8q12.1

GTPase

1.5733374

SLC4A3

2q35

Ion transport

1.47450405

ELP3

8p21.1

Regulation of transcription

1.4660848

OSTM1

6q21

Osteoclast differentiation

1.4356524

DMPK

19q13.32

Kinase

1.4022396

PFN2

3q25.1

Cytoskeleton

1.3931477

SNORD115-32

15q11.2

Small nucleolar RNA

1.37446365

RPS6KA1

1p36.11

Kinase

1.34011185

INTS10

8p21.3

Small nuclear RNA processing

1.3153658

CASP4 d

11q22.3

Apoptosis

−1.45109678

ARRDC4

15q26.2-26.3

Signal transduction

−1.498037415

KITLG

12q21.32

Signal transduction

−1.66295902

CPXM2 d

10q26.13

Peptidase

−1.785911

MIR424

Xq26.3

Post-transcriptional regulation

−3.3616748

  1. aThe chromosome (Chr) positions are based on GRCh37 in Ensembl (http://www.ensembl.org), whereas the functions/processes/components are based on NCBI Gene (http://www.ncbi.nlm.nih.gov/gene); bcompared to the baseline expression in the dataset; coverexpression confirmed by quantitative real-time PCR [see Additional file 4: Figure S3].
  2. dunderexpression confirmed by quantitative real-time PCR [see Additional file 4: Figure S3]. miRNAs, microRNAs; NCBI, National Center for Biotechnology Information.