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
ENST00000589721	[[4838397, 4838772], [4844952, 4845077], [4845715, 4845859], [4845948, 4846034], [4846190, 4846282]]	[[4845735, 4845859], [4845948, 4846034], [4846190, 4846232]]
ENST00000591004	[[4838413, 4838772], [4839940, 4840058], [4844952, 4845337]]	None
ENST00000589327	[[4838456, 4838580], [4838729, 4838772], [4844952, 4845077], [4845715, 4845859], [4845948, 4846049], [4846190, 4846282]]	[[4845735, 4845859], [4845948, 4846049], [4846190, 4846232]]
ENST00000588606	[[4845378, 4845450], [4845715, 4845859], [4845948, 4846034], [4846190, 4846282]]	[[4845735, 4845859], [4845948, 4846034], [4846190, 4846232]]
ENST00000586005	[[4845421, 4845450], [4845715, 4845859], [4845948, 4846049], [4846190, 4846282]]	[[4845735, 4845859], [4845948, 4846049], [4846190, 4846232]]
ENST00000591870	[[4845680, 4845859], [4845948, 4846034], [4846190, 4846280]]	[[4845735, 4845859], [4845948, 4846034], [4846190, 4846232]]
ENST00000588894	[[4845703, 4846312]]	None
ENST00000588500	[[4845703, 4845859], [4845948, 4846317]]	[[4845735, 4845859], [4845948, 4846232]]
ENST00000586440	[[4845713, 4845859], [4845948, 4846049], [4846190, 4846492]]	[[4845735, 4845859], [4845948, 4846049], [4846190, 4846232]]
NM_001253790	[[4838397, 4838772], [4844952, 4845077], [4845715, 4845859], [4845948, 4846034], [4846190, 4846492]]	[[4845735, 4845859], [4845948, 4846034], [4846190, 4846232]]
NM_001253791	[[4838456, 4838580], [4838729, 4838772], [4844952, 4845077], [4845715, 4845859], [4845948, 4846049], [4846190, 4846492]]	[[4845735, 4845859], [4845948, 4846049], [4846190, 4846232]]
NM_001253793	[[4845378, 4845450], [4845715, 4845859], [4845948, 4846034], [4846190, 4846492]]	[[4845735, 4845859], [4845948, 4846034], [4846190, 4846232]]
NM_001253794	[[4845378, 4845450], [4845715, 4845859], [4845948, 4846049], [4846190, 4846492]]	[[4845735, 4845859], [4845948, 4846049], [4846190, 4846232]]

Promoter

Chrom	Start	End	Description
chr16	4838371	4838389	CAGE_peak_3_at_LOC440335_5end
chr16	4838393	4838404	CAGE_peak_4_at_LOC440335_5end
chr16	4838412	4838420	CAGE_peak_5_at_LOC440335_5end
chr16	4845357	4845375	CAGE_peak_2_at_LOC440335_5end
chr16	4845382	4845412	CAGE_peak_1_at_LOC440335_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr16	GH16I004782	4782288	4782804	0.43	[{'connected_gene': 'SMIM22', 'score': 0.44}, {'connected_gene': 'SEPT12', 'score': 0.44}, {'connected_gene': 'ZNF500', 'score': 0.39}]
chr16	GH16I004794	4794800	4796163	1.09	[{'connected_gene': 'SMIM22', 'score': 560.78}, {'connected_gene': 'ENSG00000267077', 'score': 550.77}, {'connected_gene': 'GC16P004795', 'score': 550.77}, {'connected_gene': 'SEPT12', 'score': 16.08}]
chr16	GH16I004845	4845975	4849199	2.04	[{'connected_gene': 'UBN1', 'score': 558.9}, {'connected_gene': 'GLYR1', 'score': 555.56}, {'connected_gene': 'SEPT12', 'score': 12.74}, {'connected_gene': 'ROGDI', 'score': 12.62}, {'connected_gene': 'LOC102724927', 'score': 10.6}, {'connected_gene': 'ALG1', 'score': 10.54}, {'connected_gene': 'ENSG00000267077', 'score': 6.1}, {'connected_gene': 'SMIM22', 'score': 5.8}, {'connected_gene': 'PIR33451', 'score': 0.39}]
chr16	GH16I004818	4818521	4819171	0.38	[{'connected_gene': 'ZNF500', 'score': 25.72}, {'connected_gene': 'UBN1', 'score': 21.24}, {'connected_gene': 'CREBBP', 'score': 12.87}, {'connected_gene': 'GLYR1', 'score': 11.59}, {'connected_gene': 'SEPT12', 'score': 11.41}, {'connected_gene': 'NUDT16L1', 'score': 11.1}, {'connected_gene': 'PPL', 'score': 10.63}, {'connected_gene': 'SMIM22', 'score': 8.23}, {'connected_gene': 'GC16M004803', 'score': 0.39}, {'connected_gene': 'ENSG00000275056', 'score': 0.34}]
chr16	GH16I004765	4765346	4769579	2.39	[{'connected_gene': 'ZNF500', 'score': 561.9}, {'connected_gene': 'SEPT12', 'score': 13.35}, {'connected_gene': 'ROGDI', 'score': 12.24}, {'connected_gene': 'ANKS3', 'score': 12.19}, {'connected_gene': 'C16orf71', 'score': 12.19}, {'connected_gene': 'GLYR1', 'score': 10.69}, {'connected_gene': 'UBN1', 'score': 10.69}, {'connected_gene': 'SMIM22', 'score': 8.12}, {'connected_gene': 'SEC14L5', 'score': 1.92}, {'connected_gene': 'CDIP1', 'score': 1.28}, {'connected_gene': 'ENSG00000276096', 'score': 0.39}]
chr16	GH16I004824	4824377	4828217	0.52	[{'connected_gene': 'SEPT12', 'score': 24.9}, {'connected_gene': 'GLYR1', 'score': 12.4}, {'connected_gene': 'UBN1', 'score': 12.4}, {'connected_gene': 'SMIM22', 'score': 6.0}, {'connected_gene': 'ENSG00000267077', 'score': 6.0}, {'connected_gene': 'ENSG00000275056', 'score': 0.39}, {'connected_gene': 'GC16M004803', 'score': 0.34}]
chr16	GH16I004851	4851243	4853418	0.86	[{'connected_gene': 'SEPT12', 'score': 11.23}, {'connected_gene': 'PPL', 'score': 10.99}, {'connected_gene': 'ZNF500', 'score': 10.81}, {'connected_gene': 'NUDT16L1', 'score': 10.79}, {'connected_gene': 'SMIM22', 'score': 6.95}, {'connected_gene': 'ENSG00000267077', 'score': 5.96}, {'connected_gene': 'GLYR1', 'score': 0.77}, {'connected_gene': 'UBN1', 'score': 0.44}, {'connected_gene': 'PIR33451', 'score': 0.44}]
chr16	GH16I004828	4828219	4829804	0.38	[{'connected_gene': 'SEPT12', 'score': 24.09}, {'connected_gene': 'SMIM22', 'score': 6.05}, {'connected_gene': 'GLYR1', 'score': 5.5}, {'connected_gene': 'ENSG00000275056', 'score': 0.39}, {'connected_gene': 'GC16M004803', 'score': 0.34}]
chr16	GH16I004788	4788268	4789352	1.19	[{'connected_gene': 'SEPT12', 'score': 569.63}, {'connected_gene': 'SMIM22', 'score': 550.77}, {'connected_gene': 'ENSG00000267077', 'score': 10.67}, {'connected_gene': 'GC16P004795', 'score': 0.44}]
chr16	GH16I004813	4813131	4815519	0.46	[{'connected_gene': 'SEPT12', 'score': 25.63}, {'connected_gene': 'ZNF500', 'score': 11.88}, {'connected_gene': 'GLYR1', 'score': 11.69}, {'connected_gene': 'UBN1', 'score': 11.69}, {'connected_gene': 'SMIM22', 'score': 8.69}, {'connected_gene': 'GC16M004803', 'score': 0.44}, {'connected_gene': 'ENSG00000275056', 'score': 0.31}]
chr16	GH16I004867	4867085	4870714	0.69	[{'connected_gene': 'PIR48909', 'score': 550.77}, {'connected_gene': 'UBN1', 'score': 23.19}, {'connected_gene': 'SEPT12', 'score': 22.57}, {'connected_gene': 'ZNF500', 'score': 16.24}, {'connected_gene': 'GLYR1', 'score': 11.99}, {'connected_gene': 'NUDT16L1', 'score': 11.36}, {'connected_gene': 'PPL', 'score': 11.31}, {'connected_gene': 'SMIM22', 'score': 6.16}, {'connected_gene': 'ENSG00000267077', 'score': 5.94}, {'connected_gene': 'MGRN1', 'score': 5.46}, {'connected_gene': 'PIR31758', 'score': 0.44}, {'connected_gene': 'GC16P004860', 'score': 0.44}]