PsyMuKB

Visualization of regulatory element with DNMs in transcripts

Visualization of de novo variants in transcripts

Visualization of original de novo CNV set

There is no corresponding data published yet, we will update it when such data available.

Transcripts

Transcript ID	Transcript exon region	Coding exon region
ENST00000296543	[[140222608, 140222985], [140255327, 140255412], [140258001, 140258106], [140262065, 140262223], [140263979, 140264114], [140265339, 140265493], [140270615, 140270735], [140272344, 140272440], [140272658, 140272765], [140275179, 140275252], [140278539, 140278709], [140280896, 140281049], [140281653, 140281782], [140282877, 140283091], [140291364, 140291558], [140297518, 140297627], [140299909, 140300008], [140305985, 140306132], [140307286, 140307384], [140309037, 140312536]]	[[140222931, 140222985], [140255327, 140255412], [140258001, 140258106], [140262065, 140262223], [140263979, 140264114], [140265339, 140265493], [140270615, 140270735], [140272344, 140272440], [140272658, 140272765], [140275179, 140275252], [140278539, 140278709], [140280896, 140281049], [140281653, 140281782], [140282877, 140283091], [140291364, 140291558], [140297518, 140297627], [140299909, 140300008], [140305985, 140306132], [140307286, 140307384], [140309037, 140309238]]
ENST00000398947	[[140222741, 140222985], [140255327, 140255412], [140258001, 140258106], [140262065, 140262223], [140263979, 140264114], [140265339, 140265493], [140270615, 140270735], [140272344, 140272440], [140272658, 140272765], [140275179, 140275252], [140278539, 140278709], [140280896, 140281049], [140281653, 140281782], [140282877, 140283091], [140291364, 140291558], [140297518, 140297627], [140299909, 140300008], [140305988, 140306132], [140307286, 140307384], [140309037, 140312522]]	[[140222931, 140222985], [140255327, 140255412], [140258001, 140258106], [140262065, 140262223], [140263979, 140264114], [140265339, 140265493], [140270615, 140270735], [140272344, 140272440], [140272658, 140272765], [140275179, 140275252], [140278539, 140278709], [140280896, 140281049], [140281653, 140281782], [140282877, 140283091], [140291364, 140291558], [140297518, 140297627], [140299909, 140300008], [140305988, 140306132], [140307286, 140307384], [140309037, 140309238]]
ENST00000482087	[[140223137, 140223335], [140255327, 140255412], [140258001, 140258106], [140262065, 140262227]]	None
ENST00000480277	[[140258026, 140258106], [140262065, 140262223], [140263979, 140264114], [140265339, 140265493], [140270615, 140270735], [140272344, 140272440], [140272658, 140272767]]	None
ENST00000468029	[[140272688, 140272765], [140275179, 140275252], [140277642, 140277737], [140278539, 140278709], [140280896, 140281011]]	None
ENST00000496716	[[140297530, 140297627], [140299909, 140300489]]	None
ENST00000485905	[[140305989, 140306132], [140307286, 140307701]]	None
ENST00000515576	[[140307321, 140307384], [140314744, 140314876], [140325551, 140325644], [140339019, 140341187]]	[[140314756, 140314876], [140325551, 140325644], [140339019, 140339103]]
NM_057175	[[140222675, 140222985], [140255327, 140255412], [140258001, 140258106], [140262065, 140262223], [140263979, 140264114], [140265339, 140265493], [140270615, 140270735], [140272344, 140272440], [140272658, 140272765], [140275179, 140275252], [140278539, 140278709], [140280896, 140281049], [140281653, 140281782], [140282877, 140283091], [140291364, 140291558], [140297518, 140297627], [140299909, 140300008], [140305985, 140306132], [140307286, 140307384], [140309037, 140311935]]	[[140222931, 140222985], [140255327, 140255412], [140258001, 140258106], [140262065, 140262223], [140263979, 140264114], [140265339, 140265493], [140270615, 140270735], [140272344, 140272440], [140272658, 140272765], [140275179, 140275252], [140278539, 140278709], [140280896, 140281049], [140281653, 140281782], [140282877, 140283091], [140291364, 140291558], [140297518, 140297627], [140299909, 140300008], [140305985, 140306132], [140307286, 140307384], [140309037, 140309238]]

Promoter

Chrom	Start	End	Description
chr4	140222640	140222696	CAGE_peak_1_at_NAA15_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr4	GH04I139357	139357840	139358206	0.28	[{'connected_gene': 'MGARP', 'score': 17.64}, {'connected_gene': 'H3F3AP6', 'score': 4.52}, {'connected_gene': 'GC04P139370', 'score': 0.39}, {'connected_gene': 'RNU6-1214P', 'score': 0.28}, {'connected_gene': 'NAA15', 'score': 0.22}]
chr4	GH04I139323	139323401	139324200	0.46	[{'connected_gene': 'RAB33B', 'score': 17.28}, {'connected_gene': 'NAA15', 'score': 12.17}, {'connected_gene': 'NDUFC1', 'score': 12.17}, {'connected_gene': 'MGARP', 'score': 11.24}, {'connected_gene': 'H3F3AP6', 'score': 4.46}, {'connected_gene': 'RNU6-1214P', 'score': 0.44}, {'connected_gene': 'GC04P139370', 'score': 0.25}]
chr4	GH04I139366	139366763	139367975	0.38	[{'connected_gene': 'RAB33B', 'score': 17.31}, {'connected_gene': 'GC04P139370', 'score': 0.77}, {'connected_gene': 'RNU6-1214P', 'score': 0.25}, {'connected_gene': 'NAA15', 'score': 0.2}]
chr4	GH04I139418	139418334	139420650	0.77	[{'connected_gene': 'RAB33B', 'score': 33.91}, {'connected_gene': 'GC04P139422', 'score': 0.77}, {'connected_gene': 'LOC105377449', 'score': 0.44}, {'connected_gene': 'LOC101927451', 'score': 0.29}, {'connected_gene': 'ENSG00000273247', 'score': 0.29}, {'connected_gene': 'NAA15', 'score': 0.13}]
chr4	GH04I139312	139312402	139317250	1.39	[{'connected_gene': 'NDUFC1', 'score': 19.16}, {'connected_gene': 'MGARP', 'score': 17.06}, {'connected_gene': 'RAB33B', 'score': 7.47}, {'connected_gene': 'H3F3AP6', 'score': 4.46}, {'connected_gene': 'ELF2', 'score': 2.51}, {'connected_gene': 'GC04P139319', 'score': 0.77}, {'connected_gene': 'NAA15', 'score': 0.39}]
chr4	GH04I139294	139294702	139296807	2.27	[{'connected_gene': 'NDUFC1', 'score': 570.2}, {'connected_gene': 'GC04P139295', 'score': 550.77}, {'connected_gene': 'RAB33B', 'score': 15.1}, {'connected_gene': 'RNU6-1074P', 'score': 11.9}, {'connected_gene': 'ELF2', 'score': 11.25}, {'connected_gene': 'RNU6-1214P', 'score': 11.22}, {'connected_gene': 'NAA15', 'score': 0.44}]
chr4	GH04I139299	139299422	139303705	2.28	[{'connected_gene': 'NDUFC1', 'score': 570.82}, {'connected_gene': 'NAA15', 'score': 550.77}, {'connected_gene': 'RAB33B', 'score': 15.36}, {'connected_gene': 'MAML3', 'score': 11.8}, {'connected_gene': 'RNU6-1074P', 'score': 11.02}, {'connected_gene': 'MGARP', 'score': 10.89}, {'connected_gene': 'GC04P139295', 'score': 0.44}]
chr4	GH04I139409	139409998	139410326	0.37	[{'connected_gene': 'NDUFC1', 'score': 16.99}, {'connected_gene': 'LOC105377449', 'score': 0.77}, {'connected_gene': 'GC04P139370', 'score': 0.28}, {'connected_gene': 'NAA15', 'score': 0.14}]
chr4	GH04I139040	139039785	139040019	0.39	[{'connected_gene': 'NOCT', 'score': 13.85}, {'connected_gene': 'LOC105377448', 'score': 11.7}, {'connected_gene': 'MGARP', 'score': 10.59}, {'connected_gene': 'NAA15', 'score': 1.3}, {'connected_gene': 'RNU6-531P', 'score': 0.37}, {'connected_gene': 'ELF2', 'score': 0.12}]
chr4	GH04I139400	139400251	139400565	0.37	[{'connected_gene': 'ELF2', 'score': 2.35}, {'connected_gene': 'RAB33B', 'score': 2.33}, {'connected_gene': 'NAA15', 'score': 1.93}, {'connected_gene': 'LOC105377449', 'score': 0.39}, {'connected_gene': 'GC04P139370', 'score': 0.31}]
chr4	GH04I139081	139081527	139085966	2.44	[{'connected_gene': 'ELF2', 'score': 633.26}, {'connected_gene': 'NAA15', 'score': 27.16}, {'connected_gene': 'NOCT', 'score': 12.61}, {'connected_gene': 'ENSG00000273247', 'score': 12.48}, {'connected_gene': 'LOC105377448', 'score': 11.29}, {'connected_gene': 'MGARP', 'score': 11.23}, {'connected_gene': 'RAB33B', 'score': 6.91}, {'connected_gene': 'H3F3AP6', 'score': 5.87}, {'connected_gene': 'GC04P139099', 'score': 0.37}, {'connected_gene': 'RNU6-531P', 'score': 0.31}]
chr4	GH04I138650	138650352	138651914	0.63	[{'connected_gene': 'ELF2', 'score': 15.31}, {'connected_gene': 'NAA15', 'score': 10.66}, {'connected_gene': 'ENSG00000250977', 'score': 0.39}, {'connected_gene': 'GC04M138565', 'score': 0.18}]
chr4	GH04I139298	139298801	139299000	0.54	[{'connected_gene': 'RNU6-1074P', 'score': 11.02}, {'connected_gene': 'NAA15', 'score': 0.77}, {'connected_gene': 'GC04P139295', 'score': 0.77}, {'connected_gene': 'NDUFC1', 'score': 0.77}]
chr4	GH04I139413	139413536	139413804	0.25	[{'connected_gene': 'LOC105377449', 'score': 550.77}, {'connected_gene': 'RAB33B', 'score': 20.61}, {'connected_gene': 'ELF2', 'score': 1.34}, {'connected_gene': 'GC04P139422', 'score': 0.44}, {'connected_gene': 'LOC101927451', 'score': 0.26}, {'connected_gene': 'ENSG00000273247', 'score': 0.26}, {'connected_gene': 'NAA15', 'score': 0.14}]
chr4	GH04I139550	139550846	139561998	2.64	[{'connected_gene': 'ENSG00000272717', 'score': 550.77}, {'connected_gene': 'SETD7', 'score': 550.23}, {'connected_gene': 'ELF2', 'score': 14.78}, {'connected_gene': 'NAA15', 'score': 13.64}, {'connected_gene': 'MAML3', 'score': 12.83}, {'connected_gene': 'ELMOD2', 'score': 10.29}, {'connected_gene': 'NDUFC1', 'score': 4.55}, {'connected_gene': 'FTH1P24', 'score': 0.39}]
chr4	GH04I139296	139296960	139297367	0.92	[{'connected_gene': 'GC04P139295', 'score': 550.77}, {'connected_gene': 'NDUFC1', 'score': 20.09}, {'connected_gene': 'RNU6-1074P', 'score': 11.02}, {'connected_gene': 'NAA15', 'score': 0.77}]
chr4	GH04I139388	139388988	139389203	0.63	[{'connected_gene': 'GC04P139370', 'score': 0.37}, {'connected_gene': 'LOC105377449', 'score': 0.34}, {'connected_gene': 'NAA15', 'score': 0.17}]
chr4	GH04I139371	139371472	139371752	0.43	[{'connected_gene': 'GC04P139370', 'score': 550.77}, {'connected_gene': 'LOC105377449', 'score': 0.26}, {'connected_gene': 'NAA15', 'score': 0.19}]