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
ENST00000300051	[[75145757, 75146419], [75146499, 75146611], [75146731, 75146822], [75147432, 75147560], [75147639, 75147768], [75147863, 75148132], [75148423, 75148583], [75148724, 75148866], [75149095, 75149237], [75149445, 75149558], [75150546, 75150665]]	[[75146253, 75146419], [75146499, 75146611], [75146731, 75146822], [75147432, 75147560], [75147639, 75147768], [75147863, 75148132], [75148423, 75148583], [75148724, 75148866], [75149095, 75149237], [75149445, 75149558], [75150546, 75150618]]
ENST00000450168	[[75145793, 75146419], [75146499, 75146611], [75146731, 75146822], [75147432, 75147560], [75147639, 75147768], [75147863, 75148063], [75148423, 75148583], [75148724, 75148866], [75149095, 75149237], [75149445, 75149558], [75150546, 75150669]]	[[75146253, 75146419], [75146499, 75146611], [75146731, 75146822], [75147432, 75147560], [75147639, 75147768], [75147863, 75148063], [75148423, 75148583], [75148724, 75148866], [75149095, 75149237], [75149445, 75149558], [75150546, 75150618]]
ENST00000568164	[[75148401, 75148583], [75148724, 75149237], [75149445, 75149490]]	None
ENST00000569876	[[75148423, 75148583], [75148724, 75148866], [75149095, 75149237], [75149445, 75149558], [75150509, 75150653]]	[[75150510, 75150618]]
NM_153486	[[75145757, 75146419], [75146499, 75146611], [75146731, 75146822], [75147432, 75147560], [75147639, 75147768], [75147863, 75148132], [75148423, 75148583], [75148724, 75148866], [75149095, 75149237], [75149445, 75149558], [75150546, 75150670]]	[[75146253, 75146419], [75146499, 75146611], [75146731, 75146822], [75147432, 75147560], [75147639, 75147768], [75147863, 75148132], [75148423, 75148583], [75148724, 75148866], [75149095, 75149237], [75149445, 75149558], [75150546, 75150618]]
NM_194436	[[75145757, 75146419], [75146499, 75146611], [75146731, 75146822], [75147432, 75147560], [75147639, 75147768], [75147863, 75148063], [75148423, 75148583], [75148724, 75148866], [75149095, 75149237], [75149445, 75149558], [75150546, 75150670]]	[[75146253, 75146419], [75146499, 75146611], [75146731, 75146822], [75147432, 75147560], [75147639, 75147768], [75147863, 75148063], [75148423, 75148583], [75148724, 75148866], [75149095, 75149237], [75149445, 75149558], [75150546, 75150618]]

Promoter

Chrom	Start	End	Description
chr16	75150620	75150634	CAGE_peak_3_at_LDHD_5end
chr16	75150636	75150660	CAGE_peak_2_at_LDHD_5end
chr16	75150665	75150699	CAGE_peak_1_at_LDHD_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr7	GH07I107856	107856459	107858512	0.83	[{'connected_gene': 'CBLL1', 'score': 33.64}, {'connected_gene': 'HBP1', 'score': 12.85}, {'connected_gene': 'RPL7P32', 'score': 12.42}, {'connected_gene': 'ENSG00000272072', 'score': 12.07}, {'connected_gene': 'LAMB1', 'score': 12.03}, {'connected_gene': 'COG5', 'score': 11.7}, {'connected_gene': 'PIGCP2', 'score': 11.69}, {'connected_gene': 'SLC26A3', 'score': 11.67}, {'connected_gene': 'LOC101927974', 'score': 11.34}, {'connected_gene': 'SLC26A4-AS1', 'score': 10.21}, {'connected_gene': 'SLC26A4', 'score': 10.21}, {'connected_gene': 'ENSG00000273055', 'score': 9.9}, {'connected_gene': 'DLD', 'score': 6.95}, {'connected_gene': 'LOC105375444', 'score': 0.39}, {'connected_gene': 'GC07M107805', 'score': 0.15}]
chr7	GH07I107932	107932014	107935901	1.09	[{'connected_gene': 'CBLL1', 'score': 15.98}, {'connected_gene': 'DLD', 'score': 7.45}, {'connected_gene': 'ENSG00000273055', 'score': 6.49}, {'connected_gene': 'NRCAM', 'score': 4.17}, {'connected_gene': 'LAMB1', 'score': 2.17}, {'connected_gene': 'GC07M107805', 'score': 0.31}]
chr16	GH16I074778	74778843	74778992	0.4	[{'connected_gene': 'FA2H', 'score': 7.77}, {'connected_gene': 'LDHD', 'score': 4.95}, {'connected_gene': 'LOC105371343', 'score': 0.21}]
chr16	GH16I075115	75115936	75117412	2.12	[{'connected_gene': 'LDHD', 'score': 550.77}, {'connected_gene': 'ZNRF1', 'score': 13.22}, {'connected_gene': 'ENSG00000247033', 'score': 0.44}]
chr7	GH07I107890	107890187	107892939	2.29	[{'connected_gene': 'DLD', 'score': 557.96}, {'connected_gene': 'CBLL1', 'score': 15.51}, {'connected_gene': 'THAP5', 'score': 10.34}, {'connected_gene': 'ENSG00000273055', 'score': 0.23}, {'connected_gene': 'GC07M107805', 'score': 0.19}]
chr7	GH07I107937	107937112	107941499	0.96	[{'connected_gene': 'DLD', 'score': 6.95}, {'connected_gene': 'ENSG00000273055', 'score': 0.77}, {'connected_gene': 'GC07M107805', 'score': 0.34}, {'connected_gene': 'LAMB1', 'score': 0.21}]
chr7	GH07I107913	107913962	107914179	0.79	[{'connected_gene': 'DLD', 'score': 2.69}, {'connected_gene': 'ENSG00000273055', 'score': 0.31}, {'connected_gene': 'GC07M107805', 'score': 0.25}]
chr7	GH07I107907	107907601	107908417	0.63	[{'connected_gene': 'DLD', 'score': 0.37}, {'connected_gene': 'ENSG00000273055', 'score': 0.29}, {'connected_gene': 'GC07M107805', 'score': 0.23}]
chr7	GH07I107920	107920572	107920961	0.87	[{'connected_gene': 'DLD', 'score': 7.16}, {'connected_gene': 'ENSG00000273055', 'score': 0.34}, {'connected_gene': 'GC07M107805', 'score': 0.26}]
chr7	GH07I107850	107850324	107851635	0.2	[{'connected_gene': 'SLC26A3', 'score': 26.13}, {'connected_gene': 'LOC101927974', 'score': 11.9}, {'connected_gene': 'CBLL1', 'score': 11.9}, {'connected_gene': 'PIGCP2', 'score': 11.31}, {'connected_gene': 'DLD', 'score': 5.43}, {'connected_gene': 'LOC105375444', 'score': 0.37}, {'connected_gene': 'GC07M107805', 'score': 0.14}]
chr7	GH07I107875	107875319	107876425	0.83	[{'connected_gene': 'LOC105375445', 'score': 550.77}, {'connected_gene': 'CBLL1', 'score': 29.92}, {'connected_gene': 'LOC101927974', 'score': 12.67}, {'connected_gene': 'DLD', 'score': 7.29}, {'connected_gene': 'GC07M107805', 'score': 0.17}]
chr7	GH07I107874	107874696	107874905	0.82	[{'connected_gene': 'LOC105375445', 'score': 550.77}, {'connected_gene': 'LOC101927974', 'score': 12.67}, {'connected_gene': 'CBLL1', 'score': 12.67}, {'connected_gene': 'DLD', 'score': 6.69}, {'connected_gene': 'GC07M107805', 'score': 0.17}]
chr7	GH07I107876	107876853	107878415	0.49	[{'connected_gene': 'LOC101927974', 'score': 12.67}, {'connected_gene': 'CBLL1', 'score': 12.67}, {'connected_gene': 'GPR22', 'score': 10.4}, {'connected_gene': 'NRCAM', 'score': 4.21}, {'connected_gene': 'LOC105375445', 'score': 0.77}, {'connected_gene': 'DLD', 'score': 0.39}, {'connected_gene': 'GC07M107805', 'score': 0.18}]
chr7	GH07I107859	107859498	107861956	0.65	[{'connected_gene': 'PIGCP2', 'score': 11.67}, {'connected_gene': 'SLC26A3', 'score': 11.66}, {'connected_gene': 'DLD', 'score': 6.91}, {'connected_gene': 'LOC105375444', 'score': 0.39}, {'connected_gene': 'GC07M107805', 'score': 0.15}]
chr7	GH07I107839	107839261	107839756	0.46	[{'connected_gene': 'PIGCP2', 'score': 11.64}, {'connected_gene': 'SLC26A3', 'score': 11.63}, {'connected_gene': 'DLD', 'score': 5.24}, {'connected_gene': 'LOC105375444', 'score': 0.29}, {'connected_gene': 'GC07M107805', 'score': 0.13}]
chr16	GH16I075104	75104629	75114028	1.43	[{'connected_gene': 'ENSG00000247033', 'score': 550.77}, {'connected_gene': 'ZNRF1', 'score': 19.33}, {'connected_gene': 'WDR59', 'score': 5.33}, {'connected_gene': 'LDHD', 'score': 0.44}]
chr7	GH07I107945	107945121	107954596	1.91	[{'connected_gene': 'GC07M107948', 'score': 550.77}, {'connected_gene': 'LAMB4', 'score': 10.36}, {'connected_gene': 'ENSG00000273055', 'score': 7.02}, {'connected_gene': 'DLD', 'score': 6.68}, {'connected_gene': 'CBLL1', 'score': 5.87}, {'connected_gene': 'SLC26A3', 'score': 5.65}, {'connected_gene': 'GC07M107805', 'score': 0.39}, {'connected_gene': 'LAMB1', 'score': 0.23}]
chr7	GH07I107928	107927343	107927621	0.26	[{'connected_gene': 'ENSG00000273055', 'score': 5.91}, {'connected_gene': 'GC07M107805', 'score': 0.29}, {'connected_gene': 'DLD', 'score': 0.28}, {'connected_gene': 'LAMB1', 'score': 0.18}]
chr7	GH07I107927	107927066	107927123	0.42	[{'connected_gene': 'ENSG00000273055', 'score': 0.37}, {'connected_gene': 'DLD', 'score': 0.28}, {'connected_gene': 'GC07M107805', 'score': 0.28}, {'connected_gene': 'LAMB1', 'score': 0.18}]
chr7	GH07I107879	107879496	107879645	0.84	[{'connected_gene': 'ENSG00000272854', 'score': 15.98}, {'connected_gene': 'THAP5', 'score': 13.05}, {'connected_gene': 'CBLL1', 'score': 11.91}, {'connected_gene': 'LOC101927974', 'score': 11.91}, {'connected_gene': 'DLD', 'score': 6.5}, {'connected_gene': 'LOC105375445', 'score': 0.44}, {'connected_gene': 'GC07M107805', 'score': 0.18}]
chr16	GH16I075118	75118481	75119268	0.59	[{'connected_gene': 'ENSG00000261058', 'score': 550.77}, {'connected_gene': 'ZFP1', 'score': 6.21}, {'connected_gene': 'LDHD', 'score': 0.77}]