Table 1 Curated gene-sets description and gene number
From: Performance of case-control rare copy number variation annotation in classification of autism
Gene-set ID | Gene-set Description | Gene N# |
|---|---|---|
hi015 | Predicted haploinsufficiency (most inclusive) | 8862 |
hi035 | Predicted haploinsufficiency | 4136 |
hi055 | Predicted haploinsufficiency (most stringent) | 2214 |
ExpsNov_BrainFeAd_sp | Specific expression in human adult or fetal brain (Novartis Tissue Atlas) | 1285 |
Synapse_GrantFull | Post-synaptic density components | 1407 |
FMR1_Targets_Darnell | FMR1 targets (Darnell et al) | 840 |
FMR1_Targets_Ascano | FMR1 targets (Ascano et al) | 927 |
thrEXPR_log2rpkm | Expressed in brain (BrainSpan) | 13802 |
thr4.86_log2rpkm | Expressed in brain, very high (BrainSpan) | 4595 |
thr3.32_log2rpkm | Expressed in brain, high/medium (BrainSpan) | 4604 |
thr0.84_log2rpkm | Expressed in brain, medium/low (BrainSpan) | 4603 |
thr.MIN_log2rpkm | Not expressed in brain (BrainSpan) | 4600 |
PhHs_NervSys_ADX | Human nervous system phenotype (HPO), autosomal dominant or X-linked | 620 |
PhHs_NervSys_All | Human nervous system phenotype (HPO) | 784 |
PhHs_MindFun_ADX | Higher mental function phenotype (HPO), autosomal dominant or X-linked | 395 |
PhHs_MindFun_All | Higher mental function phenotype (HPO) | 687 |
MmHs_Neuro_All | Mouse neuro phenotype (MGI/MPO) | 3479 |
MmHs_Extend_All | Mouse developmental phenotype (MGI/MPO) | 4314 |
NeuroF_large | Neurobiological function, inclusive | 2601 |
NeuroF_small | Neurobiological function, stringent | 1088 |
Total | Total gene count | 18203 |