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
ENST00000485089	[[167399876, 167400250], [167400813, 167400983], [167402260, 167402296], [167403256, 167403303]]	None
ENST00000483825	[[167399876, 167400983], [167402260, 167402296], [167403256, 167404671], [167407806, 167407887], [167408580, 167408637], [167409900, 167410004], [167487644, 167487766]]	None
ENST00000362089	[[167399876, 167400983], [167402260, 167402296], [167403256, 167403313], [167404635, 167404671], [167407806, 167407887], [167408580, 167408637], [167409900, 167410004], [167487644, 167487775]]	[[167400917, 167400983], [167402260, 167402296], [167403256, 167403313], [167404635, 167404671], [167407806, 167407887], [167408580, 167408637], [167409900, 167410004], [167487644, 167487702]]
ENST00000392122	[[167399876, 167400983], [167402260, 167402296], [167403256, 167403313], [167404635, 167404668], [167407806, 167407887], [167408580, 167408637], [167409900, 167410004], [167487644, 167487847]]	[[167400917, 167400983], [167402260, 167402296], [167403256, 167403313], [167404635, 167404668], [167407806, 167407887], [167408580, 167408637], [167409900, 167410004], [167487644, 167487702]]
ENST00000476733	[[167400397, 167400983], [167402260, 167402296], [167403256, 167403313], [167404635, 167404671], [167407806, 167407887], [167408580, 167408858]]	None
ENST00000470379	[[167400409, 167400983], [167402260, 167402296], [167403256, 167403313], [167404635, 167404668], [167407806, 167407887], [167408580, 167408877]]	None
ENST00000479979	[[167409109, 167410004], [167487644, 167487847]]	None
NM_198053	[[167399876, 167400983], [167402260, 167402296], [167403256, 167403313], [167404635, 167404671], [167407806, 167407887], [167408580, 167408637], [167409900, 167410004], [167487644, 167487847]]	[[167400917, 167400983], [167402260, 167402296], [167403256, 167403313], [167404635, 167404671], [167407806, 167407887], [167408580, 167408637], [167409900, 167410004], [167487644, 167487702]]
NM_000734	[[167399876, 167400983], [167402260, 167402296], [167403256, 167403313], [167404635, 167404668], [167407806, 167407887], [167408580, 167408637], [167409900, 167410004], [167487644, 167487847]]	[[167400917, 167400983], [167402260, 167402296], [167403256, 167403313], [167404635, 167404668], [167407806, 167407887], [167408580, 167408637], [167409900, 167410004], [167487644, 167487702]]

Promoter

Chrom	Start	End	Description
chr1	167487758	167487792	CAGE_peak_1_at_CD247_5end
chr1	167487808	167487836	CAGE_peak_2_at_CD247_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I167626	167626530	167634599	2.53	[{'connected_gene': 'RCSD1', 'score': 569.81}, {'connected_gene': 'ENSG00000241666', 'score': 560.41}, {'connected_gene': 'MPZL1', 'score': 47.48}, {'connected_gene': 'DUTP6', 'score': 31.26}, {'connected_gene': 'CREG1', 'score': 11.26}, {'connected_gene': 'POU2F1', 'score': 3.25}, {'connected_gene': 'CD247', 'score': 1.27}]
chr1	GH01I167615	167615802	167619355	1.64	[{'connected_gene': 'RCSD1', 'score': 20.53}, {'connected_gene': 'CREG1', 'score': 10.78}, {'connected_gene': 'POU2F1', 'score': 2.16}, {'connected_gene': 'CD247', 'score': 1.93}, {'connected_gene': 'GC01P167591', 'score': 0.31}]
chr1	GH01I167469	167469387	167469885	0.44	[{'connected_gene': 'CD247', 'score': 14.88}, {'connected_gene': 'RCSD1', 'score': 2.17}, {'connected_gene': 'ENSG00000273160', 'score': 0.44}, {'connected_gene': 'LOC101928512', 'score': 0.39}]
chr1	GH01I167471	167471092	167506770	1.53	[{'connected_gene': 'CD247', 'score': 33.77}, {'connected_gene': 'MPZL1', 'score': 24.72}, {'connected_gene': 'DUTP6', 'score': 23.25}, {'connected_gene': 'AKR1D1P1', 'score': 12.2}, {'connected_gene': 'POU2F1', 'score': 10.63}, {'connected_gene': 'RCSD1', 'score': 4.42}, {'connected_gene': 'ENSG00000273160', 'score': 0.31}, {'connected_gene': 'LOC101928512', 'score': 0.29}]
chr1	GH01I167464	167464958	167465347	0.47	[{'connected_gene': 'CD247', 'score': 18.92}, {'connected_gene': 'CREG1', 'score': 11.32}, {'connected_gene': 'RCSD1', 'score': 3.69}, {'connected_gene': 'POU2F1', 'score': 1.27}, {'connected_gene': 'ENSG00000273160', 'score': 0.44}, {'connected_gene': 'LOC101928512', 'score': 0.39}]
chr1	GH01I167445	167445322	167459141	1.68	[{'connected_gene': 'CD247', 'score': 30.25}, {'connected_gene': 'AKR1D1P1', 'score': 11.41}, {'connected_gene': 'CREG1', 'score': 11.07}, {'connected_gene': 'GPA33', 'score': 9.7}, {'connected_gene': 'ENSG00000273160', 'score': 6.24}, {'connected_gene': 'RCSD1', 'score': 3.61}, {'connected_gene': 'POU2F1', 'score': 2.36}, {'connected_gene': 'LOC101928512', 'score': 0.77}, {'connected_gene': 'ENSG00000233411', 'score': 0.44}, {'connected_gene': 'ENSG00000272033', 'score': 0.19}]
chr1	GH01I167507	167507159	167519405	2.02	[{'connected_gene': 'CD247', 'score': 580.7}, {'connected_gene': 'GPA33', 'score': 9.9}, {'connected_gene': 'RCSD1', 'score': 5.24}, {'connected_gene': 'ENSG00000272033', 'score': 5.03}, {'connected_gene': 'CREG1', 'score': 4.67}, {'connected_gene': 'POU2F1', 'score': 1.68}, {'connected_gene': 'ENSG00000273160', 'score': 0.23}]
chr1	GH01I167426	167426665	167435004	1.37	[{'connected_gene': 'CD247', 'score': 8.44}, {'connected_gene': 'LOC101928512', 'score': 0.34}, {'connected_gene': 'ENSG00000272033', 'score': 0.23}, {'connected_gene': 'POU2F1', 'score': 0.08}]
chr1	GH01I167460	167460325	167463674	0.63	[{'connected_gene': 'CREG1', 'score': 10.98}, {'connected_gene': 'ENSG00000273160', 'score': 0.77}, {'connected_gene': 'LOC101928512', 'score': 0.44}, {'connected_gene': 'CD247', 'score': 0.22}]
chr1	GH01I167465	167465371	167466421	0.58	[{'connected_gene': 'CREG1', 'score': 11.32}, {'connected_gene': 'ENSG00000273160', 'score': 0.44}, {'connected_gene': 'LOC101928512', 'score': 0.39}, {'connected_gene': 'CD247', 'score': 0.23}]
chr1	GH01I167435	167435276	167443379	1.62	[{'connected_gene': 'DUTP6', 'score': 5.64}, {'connected_gene': 'LOC101928512', 'score': 0.37}, {'connected_gene': 'ENSG00000272033', 'score': 0.21}, {'connected_gene': 'CD247', 'score': 0.18}]
chr1	GH01I167468	167468407	167469160	0.2	[{'connected_gene': 'ENSG00000273160', 'score': 0.44}, {'connected_gene': 'LOC101928512', 'score': 0.39}, {'connected_gene': 'CD247', 'score': 0.25}]
chr1	GH01I167459	167459450	167460027	0.51	[{'connected_gene': 'ENSG00000233411', 'score': 550.77}, {'connected_gene': 'ENSG00000273160', 'score': 550.77}, {'connected_gene': 'LOC101928512', 'score': 0.77}, {'connected_gene': 'CD247', 'score': 0.22}]