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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 (, whereas the functions/processes/components are based on NCBI 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.