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
ENST00000512608	[[5420776, 5420805], [5436530, 5436589], [5437192, 5437227], [5440007, 5440026], [5441224, 5441336], [5443280, 5443357], [5444401, 5444439], [5447539, 5447622], [5447833, 5447873], [5447953, 5448010], [5454664, 5454728]]	None
ENST00000296564	[[5422806, 5423112], [5436530, 5436589], [5437192, 5437227], [5440007, 5440026], [5441224, 5441336], [5443280, 5443357], [5444401, 5444439], [5447539, 5447622], [5447833, 5447873], [5447953, 5448010], [5454664, 5454751], [5457444, 5457854], [5460548, 5465339], [5466446, 5466615], [5468940, 5469101], [5473670, 5473861], [5476085, 5476192], [5486833, 5486932], [5489261, 5490347]]	[[5423028, 5423112], [5436530, 5436589], [5437192, 5437227], [5440007, 5440026], [5441224, 5441336], [5443280, 5443357], [5444401, 5444439], [5447539, 5447622], [5447833, 5447873], [5447953, 5448010], [5454664, 5454751], [5457444, 5457854], [5460548, 5465339], [5466446, 5466615], [5468940, 5469101], [5473670, 5473861], [5476085, 5476192], [5486833, 5486932], [5489261, 5489443]]
ENST00000505464	[[5422854, 5423112], [5436530, 5436589], [5437192, 5437949]]	None
NM_015325	[[5422785, 5423112], [5436530, 5436589], [5437192, 5437227], [5440007, 5440026], [5441224, 5441336], [5443280, 5443357], [5444401, 5444439], [5447539, 5447622], [5447833, 5447873], [5447953, 5448010], [5454664, 5454751], [5457444, 5457854], [5460548, 5465339], [5466446, 5466615], [5468940, 5469101], [5473670, 5473861], [5476085, 5476192], [5486833, 5486932], [5489261, 5490347]]	[[5423028, 5423112], [5436530, 5436589], [5437192, 5437227], [5440007, 5440026], [5441224, 5441336], [5443280, 5443357], [5444401, 5444439], [5447539, 5447622], [5447833, 5447873], [5447953, 5448010], [5454664, 5454751], [5457444, 5457854], [5460548, 5465339], [5466446, 5466615], [5468940, 5469101], [5473670, 5473861], [5476085, 5476192], [5486833, 5486932], [5489261, 5489443]]

Promoter

Chrom	Start	End	Description
chr5	5422778	5422841	CAGE_peak_1_at_KIAA0947_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr5	GH05I006376	6376998	6379465	2.01	[{'connected_gene': 'MED10', 'score': 556.48}, {'connected_gene': 'LINC02145', 'score': 37.04}, {'connected_gene': 'PAPD7', 'score': 22.73}, {'connected_gene': 'LINC02102', 'score': 16.73}, {'connected_gene': 'NSUN2', 'score': 12.98}, {'connected_gene': 'ICE1', 'score': 9.83}, {'connected_gene': 'LOC105374638', 'score': 0.44}]
chr5	GH05I005339	5339679	5341215	1.2	[{'connected_gene': 'LINC02145', 'score': 32.33}, {'connected_gene': 'ICE1', 'score': 30.61}, {'connected_gene': 'ALG3P1', 'score': 0.28}, {'connected_gene': 'ENSG00000250866', 'score': 0.1}]
chr5	GH05I005270	5270841	5273031	1.15	[{'connected_gene': 'ICE1', 'score': 54.42}, {'connected_gene': 'ENSG00000250866', 'score': 0.15}, {'connected_gene': 'ALG3P1', 'score': 0.15}, {'connected_gene': 'ADAMTS16', 'score': 0.12}]
chr5	GH05I005349	5349713	5352296	1.4	[{'connected_gene': 'ICE1', 'score': 11.15}, {'connected_gene': 'ALG3P1', 'score': 0.31}, {'connected_gene': 'ENSG00000250866', 'score': 0.09}]
chr5	GH05I005334	5334741	5337360	1.13	[{'connected_gene': 'ICE1', 'score': 13.32}, {'connected_gene': 'ALG3P1', 'score': 0.26}, {'connected_gene': 'ENSG00000250866', 'score': 0.1}]
chr5	GH05I006418	6418703	6420366	0.92	[{'connected_gene': 'ICE1', 'score': 28.32}, {'connected_gene': 'LINC02145', 'score': 21.82}, {'connected_gene': 'LINC02102', 'score': 19.74}, {'connected_gene': 'PAPD7', 'score': 9.85}, {'connected_gene': 'UBE2QL1', 'score': 0.37}, {'connected_gene': 'MED10', 'score': 0.26}]
chr5	GH05I006409	6408210	6409273	0.91	[{'connected_gene': 'ICE1', 'score': 14.22}, {'connected_gene': 'PAPD7', 'score': 12.69}, {'connected_gene': 'UBE2QL1', 'score': 0.31}, {'connected_gene': 'MED10', 'score': 0.29}]
chr5	GH05I005418	5418574	5424133	2.58	[{'connected_gene': 'ICE1', 'score': 552.54}, {'connected_gene': 'LOC101929200', 'score': 550.77}, {'connected_gene': 'LINC02145', 'score': 16.15}, {'connected_gene': 'ADAMTS16', 'score': 11.3}, {'connected_gene': 'CTD-2297D10.2', 'score': 11.3}]
chr5	GH05I005432	5432094	5432400	0.2	[{'connected_gene': 'ICE1', 'score': 0.39}, {'connected_gene': 'LOC101929200', 'score': 0.39}, {'connected_gene': 'PIR56563', 'score': 0.34}]
chr5	GH05I005136	5136088	5136237	0.91	[{'connected_gene': 'ICE1', 'score': 10.83}, {'connected_gene': 'CTD-2297D10.2', 'score': 0.77}, {'connected_gene': 'RN7SKP73', 'score': 0.39}]
chr5	GH05I005522	5522808	5523932	1.11	[{'connected_gene': 'ICE1', 'score': 13.72}, {'connected_gene': 'GC05M005473', 'score': 0.25}, {'connected_gene': 'GC05M005662', 'score': 0.11}]
chr5	GH05I005480	5480466	5481568	0.38	[{'connected_gene': 'GC05M005473', 'score': 0.44}, {'connected_gene': 'ICE1', 'score': 0.21}, {'connected_gene': 'GC05M005662', 'score': 0.09}]