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

Promoter

Chrom	Start	End	Description
chr4	111543899	111543923	CAGE_peak_6_at_PITX2_5end
chr4	111544219	111544240	CAGE_peak_1_at_PITX2_5end
chr4	111544254	111544270	CAGE_peak_3_at_PITX2_5end
chr4	111558118	111558133	CAGE_peak_5_at_PITX2_5end
chr4	111558135	111558198	CAGE_peak_2_at_PITX2_5end
chr4	111558887	111558892	CAGE_peak_14_at_PITX2_5end
chr4	111563076	111563124	CAGE_peak_8_at_PITX2_5end
chr4	111563332	111563338	CAGE_peak_19_at_PITX2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr4	GH04I110613	110613969	110624237	1.94	[{'connected_gene': 'PITX2', 'score': 561.98}, {'connected_gene': 'ENSG00000250511', 'score': 9.49}, {'connected_gene': 'PANCR', 'score': 0.39}, {'connected_gene': 'GC04P110636', 'score': 0.37}]
chr4	GH04I110631	110631925	110632154	0.93	[{'connected_gene': 'PITX2', 'score': 5.15}, {'connected_gene': 'GC04P110636', 'score': 0.77}, {'connected_gene': 'PANCR', 'score': 0.34}]
chr4	GH04I110628	110628344	110628779	0.5	[{'connected_gene': 'PITX2', 'score': 4.92}, {'connected_gene': 'GC04P110636', 'score': 0.44}, {'connected_gene': 'PANCR', 'score': 0.34}]
chr4	GH04I110657	110657117	110657671	0.2	[{'connected_gene': 'PITX2', 'score': 0.37}, {'connected_gene': 'GC04P110698', 'score': 0.26}]
chr4	GH04I110643	110642167	110642226	0.61	[{'connected_gene': 'PITX2', 'score': 550.77}, {'connected_gene': 'GC04P110698', 'score': 0.22}]
chr4	GH04I110642	110642038	110642097	0.61	[{'connected_gene': 'PITX2', 'score': 550.77}, {'connected_gene': 'GC04P110636', 'score': 0.44}]
chr4	GH04I110633	110633028	110638140	1.72	[{'connected_gene': 'GC04P110636', 'score': 550.77}, {'connected_gene': 'PITX2', 'score': 550.44}, {'connected_gene': 'ENPEP', 'score': 5.42}, {'connected_gene': 'PANCR', 'score': 0.31}]

Transcript ID	Transcript exon region	Coding exon region
ENST00000306732	[[111538578, 111539844], [111542319, 111542525], [111543411, 111544259]]	[[111539280, 111539844], [111542319, 111542525], [111543411, 111543616]]
ENST00000394598	[[111538578, 111539844], [111542319, 111542525], [111553498, 111553636], [111554108, 111554164], [111557936, 111558176]]	[[111539280, 111539844], [111542319, 111542525], [111553498, 111553636], [111554108, 111554154]]
ENST00000355080	[[111538578, 111539844], [111542319, 111542525], [111554108, 111554164], [111557936, 111558508]]	[[111539280, 111539844], [111542319, 111542525], [111554108, 111554154]]
ENST00000354925	[[111538581, 111539844], [111542319, 111542525], [111553498, 111553636], [111554108, 111554164], [111555313, 111555547], [111557936, 111559310], [111563074, 111563162]]	[[111539280, 111539844], [111542319, 111542525], [111553498, 111553636], [111554108, 111554154]]
ENST00000394595	[[111538591, 111539844], [111553498, 111553636], [111554108, 111554164], [111557936, 111558182]]	[[111539503, 111539844], [111553498, 111553636], [111554108, 111554154]]
ENST00000511837	[[111539364, 111539844], [111542319, 111542525], [111553498, 111553636], [111554108, 111554164], [111563074, 111563279]]	[[111539364, 111539844], [111542319, 111542525], [111553498, 111553636], [111554108, 111554154]]
ENST00000511990	[[111539741, 111539844], [111542319, 111542525], [111554108, 111554164], [111563074, 111563172]]	[[111539741, 111539844], [111542319, 111542525], [111554108, 111554154]]
ENST00000557119	[[111541432, 111542525], [111543411, 111544207]]	[[111541935, 111542525], [111543411, 111543616]]
ENST00000607868	[[111538584, 111539982]]	None
ENST00000556049	[[111539620, 111539844], [111541155, 111541872]]	None
NM_000325	[[111538578, 111539844], [111542319, 111542525], [111543411, 111544254]]	[[111539280, 111539844], [111542319, 111542525], [111543411, 111543616]]
NM_001204397	[[111538578, 111539844], [111542319, 111542525], [111553498, 111553636], [111554108, 111554164], [111555313, 111555547], [111557936, 111559310], [111563074, 111563279]]	[[111539280, 111539844], [111542319, 111542525], [111553498, 111553636], [111554108, 111554154]]
NM_153426	[[111538578, 111539844], [111542319, 111542525], [111553498, 111553636], [111554108, 111554164], [111557936, 111559310], [111563074, 111563279]]	[[111539280, 111539844], [111542319, 111542525], [111553498, 111553636], [111554108, 111554154]]
NM_153427	[[111538578, 111539844], [111542319, 111542525], [111554108, 111554164], [111557936, 111559310], [111563074, 111563279]]	[[111539280, 111539844], [111542319, 111542525], [111554108, 111554154]]
NM_001204398	[[111538578, 111539844], [111542319, 111542525], [111553498, 111553636], [111554108, 111554164], [111563074, 111563279]]	[[111539280, 111539844], [111542319, 111542525], [111553498, 111553636], [111554108, 111554154]]
NM_001204399	[[111538578, 111539844], [111542319, 111542525], [111554108, 111554164], [111563074, 111563279]]	[[111539280, 111539844], [111542319, 111542525], [111554108, 111554154]]