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. 2013 Sep 16;8(9):e74184. doi: 10.1371/journal.pone.0074184

Table 1. Validation set characteristics, based on data from discovery stage in this study, in addition to data from other gene expression profiling studies.

Entrez GeneID Gene Symbol Gene name Chromosomal location Fold change FDR Supporting evidence from other studies Function
539 ATP5O ATP synthase, H+ transporting, mitochondrial F1 complex, O subunit 21q22.1-q22.2 2.29 8.20E-04 [4,9,10] energy metabolism
6651 SON SON DNA binding protein 21q22.11 2.51 4.32E-02 [4,7,9] regulator of cell-cycle
6647 SOD1 superoxide dismutase 1, soluble 21q22.11 2.29 2.52E-05 [4,7,9,10,20] involved in ROS metabolism
6453 ITSN1 intersectin 1 (SH3 domain protein) 21q22.1-q22.2 2.11 1.79E-02 [3,7,10] actin assembly and trafficking
6612 SUMO3 SMT3 suppressor of mif two 3 homolog 3 21q22.11 2.53 4.33E-03 [3,4,9] involved in ROS metabolism
10950 BTG3 BTG family, member 3 21q21.2 2.14 4.51E-03 [3,4,7,9] role in neurogenesis
1827 RCAN1 regulator of calcineurin 1 21q22.12 2.33 4.58E-02 [3,7,9,10] role in neurogenesis
10600 USP16 ubiquitin specific peptidase 16 21q22.11 3.24 4.78E-03 [4,7,9] involved in ROS metabolism
3914 LAMB3 laminin, beta 3 1q32 0.16 5.79E-03 [7]* laminin is a basement membrane protein

FDR – stands for “false discovery rate”, proportion of anticipated false discoveries, according to Benjamini-Hochberg method of adjusting for multiple testing

*

Although LAMB3 was not identified in other studies, we incorporated it into our biomarker set, due to its marked and highly significant down-regulation in TS21 samples. Additionally, its down-regulation was not directly reported in [7], but it could nevertheless be detected in the same processed dataset in the Gene Expression Atlas (http://www.ebi.ac.uk/gxa/)