ASD

1
readRDS("/storage11_7T/fuy/TADA-A/cell_WES/DNM/results/0511-all-rr.rds")
A data.table: 23 × 4
separate_logRRupper_boundlower_boundannota
<dbl><dbl><dbl><chr>
-1.000000 1.2069758-3.2069758miRNA.SNP.UTR pval < 0.05
-1.000000 0.1926188-2.1926188spidex: no nonsyn & stop gain & loss
-0.342154 2.6829561-3.3672642RADAR: top5% variants in the post-transcriptional regulome of RBP
-1.000000 2.8204961-4.8204960RADAR: top1%
-1.000000 3.5018739-5.5018738all RBP biding regions & RADAR top1%
1.599488 3.0837531 0.1152234hnRNPL binding regions
1.897444 2.1033770 1.6915119coding constraint >= 90
1.844203 2.2785397 1.4098657dbSNP.RBP-Var: likely to affcted RNA-bind, RNA 2nd structure
1.312018 1.6459882 0.9780486RNA modifications, including m6a, m1A, m5C, and etc.(filter_low_RMVar_hb)
2.483918 2.9038365 2.0639991deepsea: mix ago_adult_brain.BA4 & ago_adult_brain.Cingulate.gyrus
2.592861 3.0063684 2.1793531deepsea: mix elavl_Adult_brain.all_human_samples & elavl_Adult_brain.BA9_Alzheimer & elavl_Adult_brain.BA9
1.621601 1.8358553 1.40734581<= mpc score < 2
2.321405 2.5479509 2.0948598mpc score >= 2
2.600493 2.8280700 2.3729150interaction-disrupting: mutations annotated as interface residues and probably damaging by PolyPhen-2
1.757185 1.8924045 1.6219658pathogenic missense: primateAI_MVP_mix
1.773391 1.9670277 1.5797548spidex_lower10pct
1.997280 3.6649529 0.3296074spliceAI accept gain >= 0.05
2.800307 3.4769404 2.1236739spliceAI donnor gain >= 0.05
2.081598 2.5579298 1.6052671ptv in [0,0.5)
2.209710 2.9645287 1.4548916ptv in [0.5,0.995)
3.493791 3.7594861 3.2280951ptv in [0.995,1)
-1.000000-12.306234410.3062344spliceAI accept loss >= 0.05
0.365112 -0.5284987 1.2587227spliceAI donor loss >= 0.05

CHD

1
readRDS("/storage11_7T/fuy/TADA-A/CHD/rds/0512_all_annota_rr.rds")
A data.frame: 24 × 5
logRRlower_boundupper_boundidxannota
<dbl><dbl><dbl><dbl><chr>
-1.000000 3.298834 -5.29883368 1miRNA.SNP.UTR pval < 0.05
-1.00000027.517077-29.51707721 2RNAedit RBP-Var: likely to affected RNA-bind, RNA 2nd structure
1.687606 2.192012 1.18320074 3coding constraint >= 90
-1.000000 7.393399 -9.39339857 4RNA modifications, including m6a, m1A, m5C, and etc.(filter_low_RMVar_hb)
1.814882 2.339178 1.29058489 5RADAR: top5% variants in the post-transcriptional regulome of RBP
2.194627 2.734925 1.65432873 6dbSNP.RBP-Var: likely to affcted RNA-bind, RNA 2nd structure
-1.000000 3.287827 -5.28782647 7RBP-VarDB
-1.000000 4.715246 -6.71524547 8ribosnitch
-1.00000012.532978-14.53297803 9CLIPdb
2.430548 3.074458 1.7866371410deepsea: mix ago_adult_brain.BA4 & ago_adult_brain.Cingulate.gyrus
1.738795 3.155253 0.3223377611deepsea: mix elavl_Adult_brain.all_human_samples & elavl_Adult_brain.BA9_Alzheimer & elavl_Adult_brain.BA9
1.813293 2.139593 1.48699171121<= mpc score < 2
2.058641 2.554155 1.5631268313mpc score >= 2
2.307627 2.803729 1.8115246514interaction-disrupting: mutations annotated as interface residues and probably damaging by PolyPhen-2
2.035133 2.225165 1.8450998515pathogenic missense: primateAI_MVP_mix
2.030793 2.296126 1.7654596416spidex_lower10pct
2.944004 4.195226 1.6927819417spliceAI accept gain >= 0.05
2.472156 3.889113 1.0551986118spliceAI donnor gain >= 0.05
-1.00000017.383819-19.3838185019spliceAI accept loss >= 0.05
2.156331 4.376120 -0.0634571420spliceAI donor loss >= 0.05
2.283768 2.944003 1.6235342521ptv in [0,0.5)
3.039657 3.769662 2.3096524622ptv in [0.5,995)
3.701728 4.160876 3.2425800123ptv in [0.995,1)
-1.000000 6.713247 -8.7132467824hnRNPL RNA-binding