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
ENST00000233710	[[211052662, 211053778], [211057527, 211057614], [211059934, 211060062], [211068054, 211068168], [211069304, 211069406], [211070355, 211070520], [211074919, 211074986], [211081070, 211081235], [211082688, 211082826], [211085370, 211085526], [211089910, 211090215]]	[[211053684, 211053778], [211057527, 211057614], [211059934, 211060062], [211068054, 211068168], [211069304, 211069406], [211070355, 211070520], [211074919, 211074986], [211081070, 211081235], [211082688, 211082826], [211085370, 211085526], [211089910, 211089987]]
ENST00000482502	[[211074312, 211074986], [211081070, 211081443]]	None
ENST00000498120	[[211082198, 211082826], [211085370, 211085526], [211089910, 211090171]]	None
ENST00000482523	[[211082788, 211082826], [211085370, 211085526], [211089038, 211089573]]	None
NM_001608	[[211052713, 211053778], [211057527, 211057614], [211059934, 211060062], [211068054, 211068168], [211069304, 211069406], [211070355, 211070520], [211074919, 211074986], [211081070, 211081235], [211082688, 211082826], [211085370, 211085526], [211089910, 211090215]]	[[211053684, 211053778], [211057527, 211057614], [211059934, 211060062], [211068054, 211068168], [211069304, 211069406], [211070355, 211070520], [211074919, 211074986], [211081070, 211081235], [211082688, 211082826], [211085370, 211085526], [211089910, 211089987]]

Promoter

Chrom	Start	End	Description
chr2	211090039	211090059	CAGE_peak_3_at_ACADL_5end
chr2	211090073	211090085	CAGE_peak_4_at_ACADL_5end
chr2	211090089	211090121	CAGE_peak_1_at_ACADL_5end
chr2	211090139	211090150	CAGE_peak_5_at_ACADL_5end
chr2	211090162	211090179	CAGE_peak_2_at_ACADL_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr2	GH02I210189	210189917	210190026	0.54	[{'connected_gene': 'RPE', 'score': 11.1}, {'connected_gene': 'ENSG00000279317', 'score': 0.37}, {'connected_gene': 'ACADL', 'score': 0.28}]
chr2	GH02I210195	210195201	210195600	0.65	[{'connected_gene': 'RPE', 'score': 15.96}, {'connected_gene': 'KANSL1L', 'score': 11.78}, {'connected_gene': 'ACADL', 'score': 10.75}, {'connected_gene': 'ENSG00000279317', 'score': 0.34}]
chr2	GH02I210177	210177593	210178466	0.49	[{'connected_gene': 'MYL1', 'score': 4.86}, {'connected_gene': 'ENSG00000279317', 'score': 0.44}, {'connected_gene': 'ACADL', 'score': 0.25}]
chr2	GH02I209960	209960052	209961373	0.62	[{'connected_gene': 'ACADL', 'score': 9.86}, {'connected_gene': 'RPE', 'score': 0.26}, {'connected_gene': 'GC02M209861', 'score': 0.17}, {'connected_gene': 'UNC80', 'score': 0.09}]
chr2	GH02I209988	209988201	209988400	0.75	[{'connected_gene': 'ACADL', 'score': 10.46}, {'connected_gene': 'RPE', 'score': 0.39}, {'connected_gene': 'GC02M209962', 'score': 0.29}, {'connected_gene': 'GC02M209861', 'score': 0.13}, {'connected_gene': 'UNC80', 'score': 0.08}]
chr2	GH02I210070	210070893	210071219	0.22	[{'connected_gene': 'ACADL', 'score': 1.43}, {'connected_gene': 'KANSL1L', 'score': 1.29}, {'connected_gene': 'GC02P210074', 'score': 0.77}, {'connected_gene': 'LOC101928020', 'score': 0.26}]
chr2	GH02I210224	210224598	210225993	1.83	[{'connected_gene': 'ACADL', 'score': 550.77}, {'connected_gene': 'ENSG00000279317', 'score': 0.23}]
chr2	GH02I210221	210221896	210222881	0.54	[{'connected_gene': 'ACADL', 'score': 0.77}, {'connected_gene': 'ENSG00000279317', 'score': 0.23}]
chr2	GH02I210544	210544307	210550666	1.38	[{'connected_gene': 'CPS1', 'score': 19.38}, {'connected_gene': 'ACADL', 'score': 1.29}, {'connected_gene': 'GC02M210562', 'score': 0.34}]
chr2	GH02I210558	210558847	210559030	0.64	[{'connected_gene': 'CPS1', 'score': 22.17}, {'connected_gene': 'ACADL', 'score': 3.65}, {'connected_gene': 'GC02M210562', 'score': 0.39}]
chr2	GH02I210560	210560210	210563679	1	[{'connected_gene': 'CPS1', 'score': 30.2}, {'connected_gene': 'ACADL', 'score': 4.09}, {'connected_gene': 'GC02M210562', 'score': 0.44}]
chr2	GH02I210532	210532559	210534667	0.31	[{'connected_gene': 'CPS1', 'score': 11.65}, {'connected_gene': 'ACADL', 'score': 9.64}, {'connected_gene': 'GC02M210562', 'score': 0.28}]
chr2	GH02I210181	210181077	210182493	0.79	[{'connected_gene': 'MAP2', 'score': 3.86}, {'connected_gene': 'ENSG00000279317', 'score': 0.39}, {'connected_gene': 'ACADL', 'score': 0.26}]