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
ENST00000360519	[[78799905, 78800013], [78805425, 78805767], [78807309, 78807449], [78810929, 78810971]]	[[78805430, 78805767], [78807309, 78807449], [78810929, 78810971]]
ENST00000388988	[[78799905, 78800013], [78805425, 78805767], [78807309, 78807449], [78819721, 78819905], [78825551, 78826012]]	[[78805430, 78805767], [78807309, 78807449], [78819721, 78819905], [78825551, 78826012]]
ENST00000408962	[[78799905, 78800013], [78805425, 78805767], [78807309, 78807449], [78819721, 78819905], [78829641, 78829714]]	[[78805430, 78805767], [78807309, 78807449], [78819721, 78819905], [78829641, 78829643]]
ENST00000566289	[[78799923, 78800013], [78805425, 78805767], [78807309, 78807449], [78810929, 78811115], [78819721, 78821143]]	[[78805430, 78805767], [78807309, 78807449], [78810929, 78810971]]
ENST00000566332	[[78799958, 78800013], [78805425, 78805767], [78807309, 78807449], [78819721, 78820606]]	[[78805430, 78805767], [78807309, 78807449], [78819721, 78819925]]
ENST00000569878	[[78805430, 78805767], [78807309, 78807449], [78819721, 78819905], [78825551, 78826012]]	[[78805430, 78805767], [78807309, 78807449], [78819721, 78819905], [78825551, 78826012]]
ENST00000563233	[[78805430, 78805767], [78807309, 78807449], [78819721, 78819905], [78829641, 78829713]]	[[78805430, 78805767], [78807309, 78807449], [78819721, 78819905], [78829641, 78829643]]
NM_001013619	[[78799905, 78800013], [78805425, 78805767], [78807309, 78807449], [78819721, 78819905], [78825551, 78828987]]	[[78805430, 78805767], [78807309, 78807449], [78819721, 78819905], [78825551, 78826012]]
NM_001083612	[[78799905, 78800013], [78805425, 78805767], [78807309, 78807449], [78819721, 78819905], [78829641, 78829715]]	[[78805430, 78805767], [78807309, 78807449], [78819721, 78819905], [78829641, 78829643]]

Promoter

Chrom	Start	End	Description
chr15	78799864	78799873	CAGE_peak_3_at_AGPHD1_5end
chr15	78799895	78799936	CAGE_peak_1_at_AGPHD1_5end
chr15	78799948	78799964	CAGE_peak_2_at_AGPHD1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr15	GH15I078539	78539505	78542505	2.03	[{'connected_gene': 'PSMA4', 'score': 564.77}, {'connected_gene': 'CHRNA5', 'score': 83.13}, {'connected_gene': 'HYKK', 'score': 12.3}, {'connected_gene': 'IREB2', 'score': 6.07}, {'connected_gene': 'GC15M078021', 'score': 0.1}]
chr15	GH15I078315	78315392	78317578	0.92	[{'connected_gene': 'IREB2', 'score': 32.08}, {'connected_gene': 'ENSG00000259562', 'score': 32.05}, {'connected_gene': 'WDR61', 'score': 22.65}, {'connected_gene': 'ENSG00000260988', 'score': 21.07}, {'connected_gene': 'CRABP1', 'score': 12.44}, {'connected_gene': 'ACSBG1', 'score': 10.18}, {'connected_gene': 'ENSG00000259322', 'score': 10.12}, {'connected_gene': 'HYKK', 'score': 9.79}, {'connected_gene': 'CHRNA5', 'score': 9.57}, {'connected_gene': 'DNAJA4', 'score': 8.93}, {'connected_gene': 'GC15P078331', 'score': 0.39}, {'connected_gene': 'GC15M078021', 'score': 0.05}]
chr15	GH15I078307	78307982	78308877	0.95	[{'connected_gene': 'IREB2', 'score': 22.25}, {'connected_gene': 'ENSG00000259562', 'score': 22.17}, {'connected_gene': 'HYKK', 'score': 19.21}, {'connected_gene': 'WDR61', 'score': 16.37}, {'connected_gene': 'CRABP1', 'score': 11.05}, {'connected_gene': 'ENSG00000260988', 'score': 10.15}, {'connected_gene': 'ENSG00000259322', 'score': 10.14}, {'connected_gene': 'GC15P078331', 'score': 0.34}, {'connected_gene': 'GC15M078021', 'score': 0.05}]
chr15	GH15I078464	78464823	78466534	0.2	[{'connected_gene': 'IREB2', 'score': 28.05}, {'connected_gene': 'HYKK', 'score': 11.72}, {'connected_gene': 'WDR61', 'score': 11.08}, {'connected_gene': 'CHRNA5', 'score': 10.62}, {'connected_gene': 'PSMA4', 'score': 9.4}, {'connected_gene': 'ENSG00000259474', 'score': 0.37}, {'connected_gene': 'GC15M078021', 'score': 0.07}]
chr15	GH15I078305	78305412	78307516	1.08	[{'connected_gene': 'CRABP1', 'score': 11.05}, {'connected_gene': 'IREB2', 'score': 10.36}, {'connected_gene': 'HYKK', 'score': 10.17}, {'connected_gene': 'WDR61', 'score': 8.03}, {'connected_gene': 'DNAJA4', 'score': 4.66}, {'connected_gene': 'GC15P078331', 'score': 0.34}, {'connected_gene': 'GC15M078021', 'score': 0.05}]
chr15	GH15I078397	78397019	78397208	0.67	[{'connected_gene': 'CRABP1', 'score': 11.33}, {'connected_gene': 'IREB2', 'score': 10.91}, {'connected_gene': 'HYKK', 'score': 10.83}, {'connected_gene': 'ENSG00000259413', 'score': 0.39}, {'connected_gene': 'RWDD1P1', 'score': 0.39}, {'connected_gene': 'LOC105370912', 'score': 0.34}, {'connected_gene': 'GC15M078021', 'score': 0.06}]
chr15	GH15I078394	78394839	78395776	0.71	[{'connected_gene': 'CRABP1', 'score': 11.71}, {'connected_gene': 'IREB2', 'score': 11.1}, {'connected_gene': 'HYKK', 'score': 10.83}, {'connected_gene': 'CIB2', 'score': 4.5}, {'connected_gene': 'ENSG00000259413', 'score': 0.39}, {'connected_gene': 'RWDD1P1', 'score': 0.39}, {'connected_gene': 'LOC105370912', 'score': 0.37}, {'connected_gene': 'GC15M078021', 'score': 0.06}]
chr15	GH15I078506	78506716	78508844	1.98	[{'connected_gene': 'HYKK', 'score': 550.77}, {'connected_gene': 'IREB2', 'score': 17.03}, {'connected_gene': 'PSMA4', 'score': 11.54}, {'connected_gene': 'ENSG00000279373', 'score': 0.31}, {'connected_gene': 'GC15M078021', 'score': 0.08}]
chr15	GH15I078564	78564707	78566946	1.93	[{'connected_gene': 'CHRNA5', 'score': 598.59}, {'connected_gene': 'PSMA4', 'score': 13.84}, {'connected_gene': 'IREB2', 'score': 13.14}, {'connected_gene': 'TBC1D2B', 'score': 10.96}, {'connected_gene': 'HYKK', 'score': 10.75}, {'connected_gene': 'MORF4L1', 'score': 9.42}, {'connected_gene': 'ADAMTS7', 'score': 9.41}, {'connected_gene': 'CRABP1', 'score': 9.36}, {'connected_gene': 'RASGRF1', 'score': 4.7}, {'connected_gene': 'ENSG00000261762', 'score': 0.31}, {'connected_gene': 'GC15M078021', 'score': 0.12}]
chr15	GH15I077604	77604137	77605200	1.12	[{'connected_gene': 'ENSG00000259562', 'score': 23.46}, {'connected_gene': 'IREB2', 'score': 23.02}, {'connected_gene': 'TBC1D2B', 'score': 14.9}, {'connected_gene': 'LINGO1', 'score': 12.49}, {'connected_gene': 'PSMA4', 'score': 10.68}, {'connected_gene': 'LOC101929457', 'score': 10.24}, {'connected_gene': 'WDR61', 'score': 10.1}, {'connected_gene': 'ENSG00000260988', 'score': 10.08}, {'connected_gene': 'ENSG00000259322', 'score': 9.8}, {'connected_gene': 'HYKK', 'score': 9.73}, {'connected_gene': 'PEAK1', 'score': 7.75}, {'connected_gene': 'GC15P077635', 'score': 0.29}, {'connected_gene': 'LOC105370906', 'score': 0.28}, {'connected_gene': 'PIR57145', 'score': 0.28}]
chr15	GH15I077621	77621539	77624270	1.14	[{'connected_gene': 'ENSG00000259562', 'score': 69.62}, {'connected_gene': 'IREB2', 'score': 49.98}, {'connected_gene': 'TBC1D2B', 'score': 40.45}, {'connected_gene': 'WDR61', 'score': 37.39}, {'connected_gene': 'HMG20A', 'score': 25.29}, {'connected_gene': 'ENSG00000259322', 'score': 22.52}, {'connected_gene': 'ENSG00000260988', 'score': 19.18}, {'connected_gene': 'PSMA4', 'score': 10.68}, {'connected_gene': 'HYKK', 'score': 10.58}, {'connected_gene': 'LOC645752', 'score': 7.59}, {'connected_gene': 'ENSG00000269951', 'score': 5.49}, {'connected_gene': 'GC15P077635', 'score': 0.39}, {'connected_gene': 'PIR57145', 'score': 0.23}, {'connected_gene': 'LINGO1', 'score': 0.08}]