Variant type Phenotypes Total Case Control Others
AFND ALS A/M ADHD ASD BP CS CP CDH CHD DEE DD eoAD eoHM eoPD EE IS ID LGS MTLE-HS ASD or SCZ NTD OCD SCZ Sotos SISS TD Sibling non-PTB PTB Mh
De novo variants hit small genomic regions (DNMs) DNM hits protein coding regions All mutations 25 0 0 0 0 5 0 0 0 0 0 0 16 0 0 0 0 0 4 0 0 0 0 0 0 0 0 0 0 0 0 0 0
Non-symonymous Loss of function (LoF) Frameshift 6 0 0 0 0 3 0 0 0 0 0 0 3 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0
Nonsense 6 0 0 0 0 1 0 0 0 0 0 0 3 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0
Splice-site 3 0 0 0 0 0 0 0 0 0 0 0 3 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0
Missense 10 0 0 0 0 1 0 0 0 0 0 0 7 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0
Stop-gain 6 0 0 0 0 1 0 0 0 0 0 0 3 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0
Stop-loss 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0
Non-frameshit 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0
Synonymous SNV 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0
DNM hits non-coding regions All mutations 563 0 0 0 0 168 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 4 0 0 0 0 0 0 103 28 7 252 0
Intronic 219 0 0 0 0 71 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 33 18 1 95 0
UTR region 3 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 2 0
Up-/down-stream 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2 0
Intergenic 339 0 0 0 0 97 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 4 0 0 0 0 0 0 69 10 6 153 0
Non-coding RNA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0
De novo variants hit large genomic regions copy number variation (CNVs) Deletion 2 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0
Duplication 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0

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