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
ENST00000285814	[[122484520, 122485488], [122485863, 122485932], [122486052, 122486112], [122488468, 122488680], [122489671, 122489780], [122493188, 122493326], [122494321, 122494499]]	[[122485299, 122485488], [122485863, 122485932], [122486052, 122486112], [122488468, 122488680], [122489671, 122489780], [122493188, 122493326], [122494321, 122494426]]
ENST00000423105	[[122484922, 122485488], [122485863, 122485932], [122488468, 122488519]]	[[122485299, 122485488], [122485863, 122485932], [122488468, 122488519]]
ENST00000481978	[[122485251, 122485488], [122485863, 122485932], [122486052, 122486112], [122488468, 122488765]]	None
ENST00000498570	[[122485306, 122485488], [122485863, 122485932], [122486052, 122486175]]	None
ENST00000447132	[[122485372, 122485488], [122485863, 122485932], [122486052, 122486112], [122488468, 122488680], [122489671, 122489780], [122493188, 122493381]]	[[122485372, 122485488], [122485863, 122485932], [122486052, 122486112], [122488468, 122488680], [122489671, 122489708]]
ENST00000451734	[[122486082, 122486112], [122488468, 122488680], [122489671, 122489780], [122493188, 122493230], [122494321, 122494487]]	[[122486082, 122486112], [122488468, 122488680], [122489671, 122489780], [122493188, 122493230], [122494321, 122494426]]
ENST00000477693	[[122487958, 122488680], [122489671, 122489780], [122493188, 122493326], [122494321, 122494448]]	None
NM_032390	[[122484520, 122485488], [122485863, 122485932], [122486052, 122486112], [122488468, 122488680], [122489671, 122489780], [122493188, 122493326], [122494321, 122494503]]	[[122485299, 122485488], [122485863, 122485932], [122486052, 122486112], [122488468, 122488680], [122489671, 122489780], [122493188, 122493326], [122494321, 122494426]]

Promoter

Chrom	Start	End	Description
chr2	122494320	122494337	CAGE_peak_4_at_MKI67IP_5end
chr2	122494439	122494459	CAGE_peak_1_at_MKI67IP_5end
chr2	122494462	122494477	CAGE_peak_2_at_MKI67IP_5end
chr2	122494493	122494509	CAGE_peak_3_at_MKI67IP_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr2	GH02I121476	121476126	121477180	0.83	[{'connected_gene': 'TSN', 'score': 10.46}, {'connected_gene': 'NIFK', 'score': 10.46}, {'connected_gene': 'ENSG00000265451', 'score': 0.23}, {'connected_gene': 'GC02M121346', 'score': 0.19}, {'connected_gene': 'CLASP1', 'score': 0.09}]
chr2	GH02I121399	121399837	121400722	0.31	[{'connected_gene': 'TSN', 'score': 10.78}, {'connected_gene': 'NIFK', 'score': 10.78}, {'connected_gene': 'LINC01823', 'score': 6.94}, {'connected_gene': 'GC02M121346', 'score': 0.77}, {'connected_gene': 'GC02M121365', 'score': 0.29}, {'connected_gene': 'CLASP1', 'score': 0.07}]
chr2	GH02I121735	121735142	121739069	2	[{'connected_gene': 'TSN', 'score': 550.77}, {'connected_gene': 'NIFK', 'score': 550.77}, {'connected_gene': 'LINC01823', 'score': 9.71}, {'connected_gene': 'ENSG00000270798', 'score': 0.44}]
chr2	GH02I121706	121706734	121709234	1.02	[{'connected_gene': 'NPM1P32', 'score': 550.77}, {'connected_gene': 'TSN', 'score': 11.81}, {'connected_gene': 'NIFK', 'score': 11.81}, {'connected_gene': 'ENSG00000279721', 'score': 0.37}, {'connected_gene': 'NIFK-AS1', 'score': 0.22}]
chr2	GH02I121710	121710202	121710315	0.22	[{'connected_gene': 'NPM1P32', 'score': 550.77}, {'connected_gene': 'TSN', 'score': 11.81}, {'connected_gene': 'NIFK', 'score': 11.81}, {'connected_gene': 'NIFK-AS1', 'score': 0.21}]
chr2	GH02I121721	121721525	121723623	1.21	[{'connected_gene': 'CLASP1', 'score': 13.21}, {'connected_gene': 'RNU4ATAC', 'score': 13.1}, {'connected_gene': 'NPM1P32', 'score': 0.39}, {'connected_gene': 'NIFK', 'score': 0.39}, {'connected_gene': 'NIFK-AS1', 'score': 0.19}]
chr2	GH02I121718	121718601	121719200	0.83	[{'connected_gene': 'CLASP1', 'score': 13.22}, {'connected_gene': 'RNU4ATAC', 'score': 13.1}, {'connected_gene': 'NPM1P32', 'score': 0.44}, {'connected_gene': 'NIFK', 'score': 0.37}, {'connected_gene': 'NIFK-AS1', 'score': 0.2}]
chr2	GH02I121524	121524431	121533647	2.04	[{'connected_gene': 'ENSG00000265451', 'score': 550.77}, {'connected_gene': 'RNU4ATAC', 'score': 550.77}, {'connected_gene': 'GC02P121532', 'score': 550.77}, {'connected_gene': 'TSN', 'score': 10.56}, {'connected_gene': 'NIFK', 'score': 10.56}, {'connected_gene': 'LINC01823', 'score': 6.23}, {'connected_gene': 'CLASP1', 'score': 4.79}, {'connected_gene': 'GC02M121346', 'score': 0.13}]