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
ENST00000261590	[[29078005, 29078259], [29098201, 29098237], [29099765, 29099900], [29100765, 29100927], [29101061, 29101206], [29102045, 29102212], [29104410, 29104548], [29104665, 29104851], [29110949, 29111215], [29115232, 29115375], [29116164, 29116392], [29118713, 29118941], [29121155, 29121277], [29122482, 29122815], [29125683, 29128971]]	[[29078214, 29078259], [29098201, 29098237], [29099765, 29099900], [29100765, 29100927], [29101061, 29101206], [29102045, 29102212], [29104410, 29104548], [29104665, 29104851], [29110949, 29111215], [29115232, 29115375], [29116164, 29116392], [29118713, 29118941], [29121155, 29121277], [29122482, 29122815], [29125683, 29126706]]
ENST00000585206	[[29078182, 29078259], [29098201, 29098237], [29099765, 29099900], [29100765, 29100927], [29101061, 29101206], [29102045, 29102571]]	[[29078214, 29078259], [29098201, 29098237], [29099765, 29099900], [29100765, 29100927], [29101061, 29101206], [29102045, 29102221]]
NM_001943	[[29077966, 29078259], [29098201, 29098237], [29099765, 29099900], [29100765, 29100927], [29101061, 29101206], [29102045, 29102212], [29104410, 29104548], [29104665, 29104851], [29110949, 29111215], [29115232, 29115375], [29116164, 29116392], [29118713, 29118941], [29121155, 29121277], [29122482, 29122815], [29125683, 29128971]]	[[29078214, 29078259], [29098201, 29098237], [29099765, 29099900], [29100765, 29100927], [29101061, 29101206], [29102045, 29102212], [29104410, 29104548], [29104665, 29104851], [29110949, 29111215], [29115232, 29115375], [29116164, 29116392], [29118713, 29118941], [29121155, 29121277], [29122482, 29122815], [29125683, 29126706]]

Promoter

Chrom	Start	End	Description
chr18	29077868	29077914	CAGE_peak_3_at_DSG2_5end
chr18	29077929	29077947	CAGE_peak_5_at_DSG2_5end
chr18	29077951	29077964	CAGE_peak_4_at_DSG2_5end
chr18	29077990	29078034	CAGE_peak_2_at_DSG2_5end
chr18	29078131	29078218	CAGE_peak_1_at_DSG2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr18	GH18I031563	31563619	31563950	0.51	[{'connected_gene': 'TTR', 'score': 14.88}, {'connected_gene': 'B4GALT6', 'score': 10.93}, {'connected_gene': 'DSG2', 'score': 6.05}, {'connected_gene': 'DSG2-AS1', 'score': 0.44}, {'connected_gene': 'GC18M031541', 'score': 0.22}]
chr18	GH18I031565	31565709	31567491	0.8	[{'connected_gene': 'TTR', 'score': 12.38}, {'connected_gene': 'B4GALT6', 'score': 11.22}, {'connected_gene': 'SLC25A52', 'score': 10.37}, {'connected_gene': 'TRAPPC8', 'score': 9.62}, {'connected_gene': 'DSG2', 'score': 8.19}, {'connected_gene': 'DSG2-AS1', 'score': 0.44}, {'connected_gene': 'GC18M031541', 'score': 0.22}]
chr18	GH18I031446	31446853	31456243	1.56	[{'connected_gene': 'DSG3', 'score': 564.18}, {'connected_gene': 'DSG1-AS1', 'score': 11.33}, {'connected_gene': 'DSG2', 'score': 7.92}, {'connected_gene': 'DSC3', 'score': 1.76}, {'connected_gene': 'ENSG00000266521', 'score': 0.25}]
chr18	GH18I031500	31500011	31500841	1.14	[{'connected_gene': 'DSG2', 'score': 0.77}, {'connected_gene': 'DSG2-AS1', 'score': 0.22}]
chr18	GH18I031555	31555978	31556167	0.69	[{'connected_gene': 'DSG2-AS1', 'score': 550.77}, {'connected_gene': 'B4GALT6', 'score': 11.31}, {'connected_gene': 'TRAPPC8', 'score': 10.34}, {'connected_gene': 'ENSG00000266521', 'score': 6.06}, {'connected_gene': 'DSG2', 'score': 0.22}, {'connected_gene': 'GC18M031541', 'score': 0.2}]
chr18	GH18I031549	31549018	31549824	0.46	[{'connected_gene': 'DSG2-AS1', 'score': 0.44}, {'connected_gene': 'DSG2', 'score': 0.23}, {'connected_gene': 'GC18M031541', 'score': 0.19}]
chr18	GH18I031509	31509651	31514649	1.65	[{'connected_gene': 'ENSG00000266521', 'score': 21.6}, {'connected_gene': 'B4GALT6', 'score': 4.27}, {'connected_gene': 'DSG2', 'score': 3.56}, {'connected_gene': 'DSC3', 'score': 2.98}, {'connected_gene': 'DSG1', 'score': 2.69}, {'connected_gene': 'DSC2', 'score': 1.28}, {'connected_gene': 'DSG2-AS1', 'score': 0.26}]
chr18	GH18I031497	31497231	31499983	2.15	[{'connected_gene': 'ENSG00000266521', 'score': 589.19}, {'connected_gene': 'DSG2', 'score': 550.77}, {'connected_gene': 'DSG2-AS1', 'score': 0.22}]
chr18	GH18I031202	31202220	31209381	1.7	[{'connected_gene': 'PIR46251', 'score': 550.77}, {'connected_gene': 'DSC2', 'score': 17.55}, {'connected_gene': 'RNF138', 'score': 10.24}, {'connected_gene': 'DSC1', 'score': 9.61}, {'connected_gene': 'DSC3', 'score': 6.81}, {'connected_gene': 'DSG1', 'score': 5.32}, {'connected_gene': 'DSG3', 'score': 2.51}, {'connected_gene': 'DSG2', 'score': 2.16}, {'connected_gene': 'LOC105372049', 'score': 0.34}]