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
ENST00000222248	[[17982781, 17983485], [17984946, 17985012], [17985302, 17985354], [17985472, 17985540], [17986760, 17986915], [17988531, 17988672], [17988772, 17988902], [17991673, 17991762], [17992768, 17992881], [17992957, 17993028], [17994489, 17994576], [17994658, 17994855], [17999139, 17999264], [18001694, 18001810], [18004521, 18005983]]	[[17983128, 17983485], [17984946, 17985012], [17985302, 17985354], [17985472, 17985540], [17986760, 17986915], [17988531, 17988672], [17988772, 17988902], [17991673, 17991762], [17992768, 17992881], [17992957, 17993028], [17994489, 17994576], [17994658, 17994855], [17999139, 17999264], [18001694, 18001810], [18004521, 18004686]]
ENST00000597109	[[17992787, 17993028], [17994489, 17994576], [17994658, 17994855], [17999139, 17999187]]	None
NM_000453	[[17982781, 17983485], [17984946, 17985012], [17985302, 17985354], [17985472, 17985540], [17986760, 17986915], [17988531, 17988672], [17988772, 17988902], [17991673, 17991762], [17992768, 17992881], [17992957, 17993028], [17994489, 17994576], [17994658, 17994855], [17999139, 17999264], [18001694, 18001810], [18004521, 18005983]]	[[17983128, 17983485], [17984946, 17985012], [17985302, 17985354], [17985472, 17985540], [17986760, 17986915], [17988531, 17988672], [17988772, 17988902], [17991673, 17991762], [17992768, 17992881], [17992957, 17993028], [17994489, 17994576], [17994658, 17994855], [17999139, 17999264], [18001694, 18001810], [18004521, 18004686]]

Promoter

Chrom	Start	End	Description
chr19	17982747	17982760	CAGE_peak_1_at_SLC5A5_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I017871	17871896	17871955	0.89	[{'connected_gene': 'SLC5A5', 'score': 550.77}, {'connected_gene': 'ENSG00000279617', 'score': 550.77}, {'connected_gene': 'CCDC124', 'score': 0.21}]
chr19	GH19I017872	17872401	17872800	0.38	[{'connected_gene': 'SLC5A5', 'score': 550.77}, {'connected_gene': 'ENSG00000279617', 'score': 550.77}, {'connected_gene': 'CCDC124', 'score': 0.21}]
chr19	GH19I017869	17869392	17869541	0.2	[{'connected_gene': 'SLC5A5', 'score': 550.77}, {'connected_gene': 'GC19P020207', 'score': 0.44}, {'connected_gene': 'GC19P020083', 'score': 0.44}, {'connected_gene': 'PIR54406', 'score': 0.44}]
chr19	GH19I017870	17870392	17870541	0.77	[{'connected_gene': 'SLC5A5', 'score': 550.77}, {'connected_gene': 'ENSG00000279617', 'score': 550.77}, {'connected_gene': 'GC19P020207', 'score': 0.44}, {'connected_gene': 'GC19P020083', 'score': 0.44}, {'connected_gene': 'PIR54406', 'score': 0.44}]
chr19	GH19I017873	17873601	17874800	0.98	[{'connected_gene': 'RPL18A', 'score': 11.71}, {'connected_gene': 'SLC5A5', 'score': 0.77}, {'connected_gene': 'ENSG00000279617', 'score': 0.77}, {'connected_gene': 'CCDC124', 'score': 0.22}]