Table 2 Genic and regulatory features significantly contribute to predicting transcriptional consequences of CNVs.
From: Functional annotation of rare structural variation in the human brain
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 | |
