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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