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
ENST00000377837	[[6472477, 6473342], [6479666, 6479762], [6479835, 6479903], [6484537, 6484730]]	[[6473252, 6473342], [6479666, 6479762], [6479835, 6479880]]
ENST00000377836	[[6473059, 6473342], [6479666, 6479762], [6479835, 6479963]]	[[6473252, 6473342], [6479666, 6479762], [6479835, 6479880]]
ENST00000471190	[[6473109, 6473342], [6476575, 6476691]]	None
ENST00000377834	[[6475291, 6479213], [6479300, 6479400], [6479666, 6479762], [6479835, 6479979]]	[[6478932, 6479213], [6479300, 6479400], [6479666, 6479762], [6479835, 6479880]]
ENST00000487437	[[6478473, 6479213], [6479666, 6479762], [6479835, 6479967]]	[[6479120, 6479213], [6479666, 6479762], [6479835, 6479880]]
ENST00000489730	[[6478908, 6479400], [6479666, 6479762], [6479835, 6479977]]	[[6479292, 6479400], [6479666, 6479762], [6479835, 6479880]]
NM_019089	[[6475291, 6479213], [6479300, 6479400], [6479666, 6479762], [6479835, 6479979]]	[[6478932, 6479213], [6479300, 6479400], [6479666, 6479762], [6479835, 6479880]]

Promoter

Chrom	Start	End	Description
chr1	6479968	6479986	CAGE_peak_1_at_HES2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I006404	6404761	6404910	0.98	[{'connected_gene': 'THAP3', 'score': 131.34}, {'connected_gene': 'NOL9', 'score': 113.68}, {'connected_gene': 'RPL22', 'score': 38.11}, {'connected_gene': 'CAMTA1-DT', 'score': 29.32}, {'connected_gene': 'LOC102724450', 'score': 22.73}, {'connected_gene': 'PHF13', 'score': 21.95}, {'connected_gene': 'ZBTB48', 'score': 21.48}, {'connected_gene': 'CAMTA1', 'score': 19.37}, {'connected_gene': 'NPHP4', 'score': 19.31}, {'connected_gene': 'GC01M006398', 'score': 0.44}, {'connected_gene': 'HES2', 'score': 0.37}]
chr1	GH01I006422	6422737	6425891	1.62	[{'connected_gene': 'ESPN', 'score': 579.78}, {'connected_gene': 'HES2', 'score': 550.77}, {'connected_gene': 'PHF13', 'score': 14.15}, {'connected_gene': 'NOL9', 'score': 11.85}, {'connected_gene': 'RNF207', 'score': 10.7}, {'connected_gene': 'LOC102724450', 'score': 10.7}, {'connected_gene': 'RPL22', 'score': 10.7}, {'connected_gene': 'THAP3', 'score': 10.37}, {'connected_gene': 'ACOT7', 'score': 6.48}, {'connected_gene': 'GC01M006398', 'score': 0.34}]
chr1	GH01I006412	6412832	6417164	1.12	[{'connected_gene': 'ESPN', 'score': 26.49}, {'connected_gene': 'RNF207', 'score': 19.47}, {'connected_gene': 'LINC00337', 'score': 11.71}, {'connected_gene': 'ICMT', 'score': 11.71}, {'connected_gene': 'HES3', 'score': 11.71}, {'connected_gene': 'PLEKHG5', 'score': 11.13}, {'connected_gene': 'LOC102724450', 'score': 10.81}, {'connected_gene': 'RPL22', 'score': 10.81}, {'connected_gene': 'CAMTA1', 'score': 10.81}, {'connected_gene': 'CHD5', 'score': 10.31}, {'connected_gene': 'ACOT7', 'score': 5.7}, {'connected_gene': 'HES2', 'score': 0.44}, {'connected_gene': 'GC01M006398', 'score': 0.37}]
chr1	GH01I006299	6299190	6303682	1.07	[{'connected_gene': 'ESPN', 'score': 18.97}, {'connected_gene': 'ACOT7', 'score': 5.85}, {'connected_gene': 'ZBTB48', 'score': 3.34}, {'connected_gene': 'PLEKHG5', 'score': 2.75}, {'connected_gene': 'GPR153', 'score': 2.15}, {'connected_gene': 'HES2', 'score': 2.06}, {'connected_gene': 'THAP3', 'score': 1.97}, {'connected_gene': 'NPHP4', 'score': 1.56}, {'connected_gene': 'GC01P006262', 'score': 0.26}, {'connected_gene': 'ENSG00000271746', 'score': 0.16}]
chr1	GH01I006418	6418498	6421697	1.46	[{'connected_gene': 'HES2', 'score': 550.77}, {'connected_gene': 'ESPN', 'score': 25.65}, {'connected_gene': 'RNF207', 'score': 10.73}, {'connected_gene': 'LOC102724450', 'score': 10.73}, {'connected_gene': 'RPL22', 'score': 10.73}, {'connected_gene': 'ACOT7', 'score': 6.18}, {'connected_gene': 'GC01M006398', 'score': 0.34}]