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. 2020 Jun 12;11:2990. doi: 10.1038/s41467-020-16736-1

Table 2.

Genic and regulatory features significantly contribute to predicting transcriptional consequences of CNVs.

CMC CMC_HBCC
CNV class Variable Beta SE T P Beta SE T P Beta SE T P
Deletions Exonic Proportion −1.7762 0.0664 −26.77 9.9E−158 −2.0563 0.0852 −24.12 1.8E−128 −1.5571 0.0939 −16.59 8.68E−62
Enhancer sum −0.0152 0.0083 −1.83 6.7E−02 −0.0093 0.0094 −0.99 3.2E−01 −0.0188 0.0112 −1.69 9.14E−02
Promoter proportion −0.1726 0.0589 −2.93 3.4E−03 −0.1719 0.0747 −2.30 2.1E−02 −0.0872 0.0843 −1.04 3.01E−01
SV Length −2.14E−07 1.46E-08 −14.70 6.9E−49 −1.92E−07 1.70E−08 −11.26 2.0E−29 −1.89E−07 3.42E−08 −5.53 3.19E−08
Within TAD −0.0090 0.0022 −4.03 5.7E−05 −0.0113 0.0031 −3.61 3.0E−04 −0.0046 0.0028 −1.65 9.83E−02
Duplications Exonic Proportion 0.7825 0.0352 22.22 3.0E−109 1.1285 0.0546 20.67 1.0E−94 0.5043 0.0442 11.42 3.43E−30
Enhancer sum −0.0157 0.0027 −5.77 8.1E−09 0.0015 0.0062 0.24 8.1E−01 −0.0164 0.0030 −5.42 5.84E−08
Promoter proportion 0.3735 0.0326 11.45 2.5E−30 0.3523 0.0509 6.92 4.5E−12 0.3438 0.0403 8.54 1.37E−17
SV Length 3.99E-07 2.60E-08 15.34 4.6E−53 4.07E−07 3.52E−08 11.58 5.3E−31 3.05E−07 3.68E−08 8.30 1.04E−16
Within TAD 0.0046 0.0036 1.26 2.1E−01 0.0072 0.0052 1.38 1.7E−01 0.0038 0.0045 0.86 3.89E−01

Coefficients of linear regression model to predict expression z-scores in deletions and duplications, across all samples and stratified by cohort.