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
ENST00000371485	[[95256388, 95256680], [95259796, 95259991], [95262869, 95263145], [95266744, 95266813], [95275161, 95275312], [95276691, 95277005], [95278633, 95278705], [95279438, 95279564], [95287706, 95288849]]	[[95259808, 95259991], [95262869, 95263145], [95266744, 95266813], [95275161, 95275312], [95276691, 95277005], [95278633, 95278705], [95279438, 95279564], [95287706, 95287910]]
ENST00000445435	[[95266766, 95266813], [95275161, 95275312], [95276691, 95277005], [95278633, 95278868]]	[[95266766, 95266813], [95275161, 95275312], [95276691, 95277005], [95278633, 95278747]]
ENST00000496302	[[95276963, 95277005], [95278633, 95278705], [95279438, 95280034]]	None
NM_001127182	[[95256368, 95256538], [95259796, 95259991], [95262869, 95263145], [95266744, 95266813], [95275161, 95275312], [95276691, 95277005], [95278633, 95278705], [95279438, 95279564], [95287706, 95288849]]	[[95259808, 95259991], [95262869, 95263145], [95266744, 95266813], [95275161, 95275312], [95276691, 95277005], [95278633, 95278705], [95279438, 95279564], [95287706, 95287910]]
NM_018131	[[95256388, 95256680], [95259796, 95259991], [95262869, 95263145], [95266744, 95266813], [95275161, 95275312], [95276691, 95277005], [95278633, 95278705], [95279438, 95279564], [95287706, 95288849]]	[[95259808, 95259991], [95262869, 95263145], [95266744, 95266813], [95275161, 95275312], [95276691, 95277005], [95278633, 95278705], [95279438, 95279564], [95287706, 95287910]]

Promoter

Chrom	Start	End	Description
chr10	95256356	95256408	CAGE_peak_1_at_CEP55_5end
chr10	95256421	95256437	CAGE_peak_2_at_CEP55_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr10	GH10I093498	93498027	93498900	0.77	[{'connected_gene': 'CEP55', 'score': 561.72}, {'connected_gene': 'RPL17P34', 'score': 13.62}, {'connected_gene': 'PDE6C', 'score': 12.8}, {'connected_gene': 'NOC3L', 'score': 11.78}, {'connected_gene': 'RNA5SP323', 'score': 0.39}, {'connected_gene': 'GC10M093511', 'score': 0.39}]
chr10	GH10I093514	93514602	93516800	0.6	[{'connected_gene': 'CEP55', 'score': 19.2}, {'connected_gene': 'FFAR4', 'score': 10.88}, {'connected_gene': 'CYP26A1', 'score': 10.43}, {'connected_gene': 'RNA5SP323', 'score': 0.44}, {'connected_gene': 'GC10M093511', 'score': 0.44}, {'connected_gene': 'GC10M093549', 'score': 0.28}]
chr10	GH10I093494	93494564	93497706	2.21	[{'connected_gene': 'CEP55', 'score': 563.25}, {'connected_gene': 'ENSG00000273450', 'score': 11.4}, {'connected_gene': 'MYOF', 'score': 5.59}]
chr10	GH10I093363	93363801	93364600	0.4	[{'connected_gene': 'CYP26C1', 'score': 11.05}, {'connected_gene': 'ENSG00000226425', 'score': 11.05}, {'connected_gene': 'CEP55', 'score': 11.03}, {'connected_gene': 'GC10P093383', 'score': 0.37}, {'connected_gene': 'RPL17P34', 'score': 0.18}, {'connected_gene': 'MYOF', 'score': 0.13}]
chr10	GH10I093455	93455674	93484041	2.74	[{'connected_gene': 'MYOF', 'score': 574.53}, {'connected_gene': 'CEP55', 'score': 15.09}, {'connected_gene': 'PDE6C', 'score': 10.6}, {'connected_gene': 'GC10M093419', 'score': 0.44}, {'connected_gene': 'GC10M093427', 'score': 0.26}]
chr10	GH10I093415	93415317	93416410	0.43	[{'connected_gene': 'MYOF', 'score': 12.31}, {'connected_gene': 'CEP55', 'score': 11.44}, {'connected_gene': 'GC10M093427', 'score': 0.39}, {'connected_gene': 'GC10P093383', 'score': 0.29}]
chr10	GH10I093412	93412197	93414399	0.71	[{'connected_gene': 'MYOF', 'score': 12.31}, {'connected_gene': 'CEP55', 'score': 11.44}, {'connected_gene': 'GC10M093427', 'score': 0.39}, {'connected_gene': 'GC10P093383', 'score': 0.31}]
chr10	GH10I093488	93488744	93490270	0.4	[{'connected_gene': 'MYOF', 'score': 18.06}, {'connected_gene': 'CEP55', 'score': 0.44}]
chr10	GH10I093502	93502480	93503626	0.58	[{'connected_gene': 'MYOF', 'score': 12.93}, {'connected_gene': 'RNA5SP323', 'score': 0.44}, {'connected_gene': 'CEP55', 'score': 0.44}, {'connected_gene': 'GC10M093511', 'score': 0.44}]
chr10	GH10I093511	93511424	93511553	0.54	[{'connected_gene': 'RNA5SP323', 'score': 550.77}, {'connected_gene': 'GC10M093511', 'score': 550.77}, {'connected_gene': 'PDE6C', 'score': 11.81}, {'connected_gene': 'NOC3L', 'score': 10.5}, {'connected_gene': 'RPL17P34', 'score': 10.11}, {'connected_gene': 'CEP55', 'score': 0.39}, {'connected_gene': 'GC10M093549', 'score': 0.28}]