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
ENST00000532404	[[50792758, 50793034], [50821993, 50822126], [50830905, 50831048], [50833245, 50833461], [50835794, 50835990], [50836783, 50836978], [50838669, 50838896]]	[[50792965, 50793034], [50821993, 50822126], [50830905, 50831048], [50833245, 50833461], [50835794, 50835990], [50836783, 50836978], [50838669, 50838722]]
ENST00000559105	[[50792995, 50793034], [50821993, 50822126], [50830905, 50831048], [50833245, 50833461], [50838669, 50838863]]	[[50833328, 50833461], [50838669, 50838722]]
ENST00000530218	[[50793082, 50793248], [50821993, 50822126], [50830905, 50831048], [50838669, 50838905]]	None
ENST00000529349	[[50805606, 50805709], [50821993, 50822126], [50824208, 50824424], [50830905, 50831033]]	[[50824294, 50824424], [50830905, 50831033]]
NM_203494	[[50792758, 50793034], [50821993, 50822126], [50830905, 50831048], [50833245, 50833461], [50835794, 50835990], [50836783, 50836978], [50838669, 50838902]]	[[50792965, 50793034], [50821993, 50822126], [50830905, 50831048], [50833245, 50833461], [50835794, 50835990], [50836783, 50836978], [50838669, 50838722]]

Promoter

Chrom	Start	End	Description
chr15	50838857	50838868	CAGE_peak_1_at_USP50_5end
chr15	50838888	50838892	CAGE_peak_2_at_USP50_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr15	GH15I050501	50501353	50501522	0.22	[{'connected_gene': 'USP50', 'score': 10.91}, {'connected_gene': 'USP8', 'score': 10.51}, {'connected_gene': 'TRPM7', 'score': 1.23}, {'connected_gene': 'ENSG00000259298', 'score': 0.77}, {'connected_gene': 'GC15P050544', 'score': 0.26}, {'connected_gene': 'GC15P050155', 'score': 0.05}]
chr15	GH15I050546	50546656	50546715	0.61	[{'connected_gene': 'USP50', 'score': 550.77}, {'connected_gene': 'GC15P050544', 'score': 0.77}, {'connected_gene': 'GC15P050155', 'score': 0.05}]
chr15	GH15I050523	50523724	50524161	0.2	[{'connected_gene': 'USP50', 'score': 21.71}, {'connected_gene': 'GC15P050544', 'score': 0.34}, {'connected_gene': 'ENSG00000259298', 'score': 0.31}, {'connected_gene': 'GC15P050155', 'score': 0.05}]
chr15	GH15I050598	50598208	50598254	0.34	[{'connected_gene': 'AP4E1', 'score': 11.28}, {'connected_gene': 'USP50', 'score': 11.24}, {'connected_gene': 'SPPL2A', 'score': 3.41}, {'connected_gene': 'USP8', 'score': 2.4}, {'connected_gene': 'TRPM7', 'score': 1.34}, {'connected_gene': 'GC15P050592', 'score': 0.44}, {'connected_gene': 'GC15P050610', 'score': 0.39}, {'connected_gene': 'GC15P050580', 'score': 0.37}]
chr15	GH15I050873	50873601	50874600	0.63	[{'connected_gene': 'AP4E1', 'score': 22.36}, {'connected_gene': 'RN7SL354P', 'score': 11.61}, {'connected_gene': 'TRPM7', 'score': 11.61}, {'connected_gene': 'USP50', 'score': 9.69}, {'connected_gene': 'SPPL2A', 'score': 9.64}, {'connected_gene': 'ENSG00000259306', 'score': 5.79}, {'connected_gene': 'GC15P050883', 'score': 0.44}, {'connected_gene': 'PIR42507', 'score': 0.39}, {'connected_gene': 'ENSG00000273674', 'score': 0.29}, {'connected_gene': 'GC15P050737', 'score': 0.12}]
chr15	GH15I050466	50466144	50467513	0.31	[{'connected_gene': 'RPS20P34', 'score': 550.77}, {'connected_gene': 'GC15P050467', 'score': 550.77}, {'connected_gene': 'USP8', 'score': 11.68}, {'connected_gene': 'USP50', 'score': 10.74}, {'connected_gene': 'SPPL2A', 'score': 5.44}, {'connected_gene': 'GC15P050469', 'score': 0.77}, {'connected_gene': 'GC15P050436', 'score': 0.29}, {'connected_gene': 'GC15P050433', 'score': 0.29}, {'connected_gene': 'GC15P050155', 'score': 0.06}]
chr15	GH15I050349	50349120	50357417	2.32	[{'connected_gene': 'GABPB1-AS1', 'score': 657.88}, {'connected_gene': 'GC15P050351', 'score': 550.77}, {'connected_gene': 'GABPB1', 'score': 550.77}, {'connected_gene': 'ENSG00000259715', 'score': 90.42}, {'connected_gene': 'USP8', 'score': 51.27}, {'connected_gene': 'GABPB1-IT1', 'score': 37.57}, {'connected_gene': 'ENSG00000259298', 'score': 26.01}, {'connected_gene': 'ENSG00000259618', 'score': 20.38}, {'connected_gene': 'TRPM7', 'score': 13.97}, {'connected_gene': 'RPS20P34', 'score': 12.42}, {'connected_gene': 'HDC', 'score': 10.41}, {'connected_gene': 'DTWD1', 'score': 10.26}, {'connected_gene': 'USP50', 'score': 9.86}, {'connected_gene': 'SLC27A2', 'score': 7.34}, {'connected_gene': 'GC15P050305', 'score': 0.25}, {'connected_gene': 'GC15P050155', 'score': 0.08}]
chr15	GH15I050542	50542904	50543053	0.74	[{'connected_gene': 'GC15P050544', 'score': 550.77}, {'connected_gene': 'USP8', 'score': 9.7}, {'connected_gene': 'RN7SL354P', 'score': 9.26}, {'connected_gene': 'TRPM7', 'score': 9.26}, {'connected_gene': 'SPPL2A', 'score': 7.62}, {'connected_gene': 'USP50', 'score': 0.77}, {'connected_gene': 'ENSG00000259298', 'score': 0.26}, {'connected_gene': 'GC15P050155', 'score': 0.05}]
chr15	GH15I050541	50541655	50542773	0.63	[{'connected_gene': 'GC15P050544', 'score': 550.77}, {'connected_gene': 'TRPM7', 'score': 14.64}, {'connected_gene': 'USP8', 'score': 9.7}, {'connected_gene': 'RN7SL354P', 'score': 9.26}, {'connected_gene': 'SPPL2A', 'score': 7.61}, {'connected_gene': 'USP50', 'score': 0.44}, {'connected_gene': 'ENSG00000259298', 'score': 0.26}, {'connected_gene': 'GC15P050155', 'score': 0.05}]
chr15	GH15I050358	50358911	50359277	0.7	[{'connected_gene': 'ENSG00000259715', 'score': 550.77}, {'connected_gene': 'MIR4712', 'score': 550.77}, {'connected_gene': 'USP8', 'score': 12.04}, {'connected_gene': 'USP50', 'score': 9.86}, {'connected_gene': 'GABPB1', 'score': 0.77}, {'connected_gene': 'GABPB1-AS1', 'score': 0.77}, {'connected_gene': 'GABPB1-IT1', 'score': 0.77}, {'connected_gene': 'GC15P050305', 'score': 0.23}, {'connected_gene': 'GC15P050155', 'score': 0.08}]