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
ENST00000453363	[[61972274, 61972579], [61973434, 61973595], [61973861, 61974013]]	[[61972381, 61972579], [61973434, 61973595], [61973861, 61973871]]
ENST00000316193	[[61972277, 61972579], [61972832, 61972997], [61973090, 61973210], [61973434, 61973595], [61973861, 61974013]]	[[61972381, 61972579], [61972832, 61972997], [61973090, 61973210], [61973434, 61973595], [61973861, 61973871]]
ENST00000329882	[[61972286, 61972997], [61973090, 61973210], [61973434, 61973595], [61973861, 61973942]]	[[61972517, 61972997], [61973090, 61973210], [61973434, 61973595], [61973861, 61973871]]
ENST00000558284	[[61972290, 61972997], [61973090, 61973969]]	None
ENST00000558661	[[61973190, 61973595], [61973861, 61974021]]	None
NM_001317	[[61972267, 61972579], [61972832, 61972997], [61973090, 61973210], [61973434, 61973595], [61973861, 61974021]]	[[61972381, 61972579], [61972832, 61972997], [61973090, 61973210], [61973434, 61973595], [61973861, 61973871]]

Promoter

Chrom	Start	End	Description
chr17	61972373	61972412	CAGE_peak_2_at_CSH1_5end
chr17	61973889	61973921	CAGE_peak_1_at_CSH1_5end
chr17	61973929	61973936	CAGE_peak_3_at_CSH1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr17	GH17I063896	63896562	63896621	0.5	[{'connected_gene': 'CSH1', 'score': 550.77}, {'connected_gene': 'ENSG00000259533', 'score': 0.39}]