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
ENST00000474872	[[7005936, 7006176], [7016846, 7017375]]	None
ENST00000442639	[[7005958, 7006176], [7023501, 7023663], [7027065, 7027184]]	[[7006034, 7006176], [7023501, 7023663], [7027065, 7027184]]
ENST00000382040	[[7017795, 7018277], [7023501, 7023663], [7027065, 7027295], [7030306, 7030456], [7033801, 7033834], [7035908, 7038370]]	[[7017931, 7018277], [7023501, 7023663], [7027065, 7027295], [7030306, 7030456], [7033801, 7033834], [7035908, 7036073]]
ENST00000489749	[[7018153, 7018277], [7023501, 7023961]]	None
ENST00000477834	[[7018924, 7019172], [7023501, 7023663], [7027065, 7027224]]	None
ENST00000541728	[[7018924, 7019172], [7023501, 7023663], [7027065, 7027295], [7030306, 7030456], [7033801, 7033834], [7035908, 7036440]]	[[7019147, 7019172], [7023501, 7023663], [7027065, 7027295], [7030306, 7030456], [7033801, 7033834], [7035908, 7036073]]
NM_080657	[[7017795, 7018277], [7023501, 7023663], [7027065, 7027295], [7030306, 7030456], [7033801, 7033834], [7035908, 7038363]]	[[7017931, 7018277], [7023501, 7023663], [7027065, 7027295], [7030306, 7030456], [7033801, 7033834], [7035908, 7036073]]

Promoter

Chrom	Start	End	Description
chr2	7005997	7006051	CAGE_peak_2_at_RSAD2_5end
chr2	7017899	7017914	CAGE_peak_1_at_RSAD2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr2	GH02I006886	6885170	6885267	0.2	[{'connected_gene': 'RNF144A', 'score': 11.98}, {'connected_gene': 'RNF144A-AS1', 'score': 11.98}, {'connected_gene': 'GC02P006897', 'score': 0.39}, {'connected_gene': 'RSAD2', 'score': 0.37}, {'connected_gene': 'CMPK2', 'score': 0.37}]
chr2	GH02I006883	6883242	6884582	0.75	[{'connected_gene': 'RNF144A', 'score': 11.98}, {'connected_gene': 'RNF144A-AS1', 'score': 11.98}, {'connected_gene': 'GC02P006897', 'score': 0.39}, {'connected_gene': 'RSAD2', 'score': 0.37}, {'connected_gene': 'CMPK2', 'score': 0.37}]
chr2	GH02I006879	6879705	6882279	1.31	[{'connected_gene': 'RNF144A', 'score': 11.5}, {'connected_gene': 'RNF144A-AS1', 'score': 11.5}, {'connected_gene': 'CMPK2', 'score': 0.39}, {'connected_gene': 'RSAD2', 'score': 0.37}, {'connected_gene': 'GC02P006897', 'score': 0.37}]
chr2	GH02I006885	6885381	6886894	1.05	[{'connected_gene': 'RSAD2', 'score': 12.1}, {'connected_gene': 'RNF144A', 'score': 11.98}, {'connected_gene': 'RNF144A-AS1', 'score': 11.98}, {'connected_gene': 'GC02P006897', 'score': 0.39}, {'connected_gene': 'CMPK2', 'score': 0.37}]
chr2	GH02I006946	6946781	6947040	0.72	[{'connected_gene': 'RSAD2', 'score': 19.54}, {'connected_gene': 'RNF144A', 'score': 11.71}, {'connected_gene': 'RNF144A-AS1', 'score': 11.71}, {'connected_gene': 'CMPK2', 'score': 9.42}, {'connected_gene': 'GC02M007018', 'score': 0.18}]
chr2	GH02I006887	6887278	6888501	1.13	[{'connected_gene': 'RSAD2', 'score': 12.1}, {'connected_gene': 'CMPK2', 'score': 12.1}, {'connected_gene': 'RNF144A', 'score': 12.0}, {'connected_gene': 'RNF144A-AS1', 'score': 11.98}, {'connected_gene': 'GC02P006897', 'score': 0.44}]
chr2	GH02I006888	6888602	6888709	0.43	[{'connected_gene': 'RSAD2', 'score': 12.1}, {'connected_gene': 'CMPK2', 'score': 12.1}, {'connected_gene': 'RNF144A', 'score': 12.0}, {'connected_gene': 'RNF144A-AS1', 'score': 11.98}, {'connected_gene': 'GC02P006897', 'score': 0.44}]
chr2	GH02I006889	6887089	6887177	0.2	[{'connected_gene': 'RSAD2', 'score': 12.1}, {'connected_gene': 'CMPK2', 'score': 12.1}, {'connected_gene': 'RNF144A', 'score': 11.98}, {'connected_gene': 'RNF144A-AS1', 'score': 11.98}, {'connected_gene': 'GC02P006897', 'score': 0.39}]
chr2	GH02I006908	6908469	6911595	1.35	[{'connected_gene': 'RSAD2', 'score': 11.44}, {'connected_gene': 'CMPK2', 'score': 11.44}, {'connected_gene': 'ENSG00000271947', 'score': 9.13}, {'connected_gene': 'RNF144A', 'score': 0.44}]
chr2	GH02I006857	6857003	6857349	0.65	[{'connected_gene': 'RSAD2', 'score': 13.37}, {'connected_gene': 'CMPK2', 'score': 12.07}, {'connected_gene': 'NRIR', 'score': 0.37}]
chr2	GH02I006858	6858291	6858688	0.61	[{'connected_gene': 'RSAD2', 'score': 19.95}, {'connected_gene': 'CMPK2', 'score': 16.25}, {'connected_gene': 'NRIR', 'score': 0.37}]
chr2	GH02I006864	6864325	6867119	2.18	[{'connected_gene': 'RSAD2', 'score': 550.77}, {'connected_gene': 'CMPK2', 'score': 550.77}, {'connected_gene': 'NRIR', 'score': 0.31}]
chr2	GH02I007242	7242401	7243400	0.71	[{'connected_gene': 'RSAD2', 'score': 14.19}, {'connected_gene': 'CMPK2', 'score': 7.37}, {'connected_gene': 'GC02P007246', 'score': 0.77}, {'connected_gene': 'GC02M007162', 'score': 0.18}]
chr2	GH02I006872	6872456	6872683	0.38	[{'connected_gene': 'RSAD2', 'score': 28.48}, {'connected_gene': 'CMPK2', 'score': 11.41}, {'connected_gene': 'GC02P006897', 'score': 0.34}]
chr2	GH02I006876	6876838	6878841	1.9	[{'connected_gene': 'RSAD2', 'score': 550.39}, {'connected_gene': 'NRIR', 'score': 11.16}, {'connected_gene': 'CMPK2', 'score': 0.39}, {'connected_gene': 'GC02P006897', 'score': 0.37}]
chr2	GH02I006855	6855334	6856232	0.49	[{'connected_gene': 'LINC00487', 'score': 5.97}, {'connected_gene': 'RSAD2', 'score': 0.39}, {'connected_gene': 'CMPK2', 'score': 0.39}, {'connected_gene': 'NRIR', 'score': 0.37}]
chr2	GH02I006853	6853902	6854515	0.31	[{'connected_gene': 'NRIR', 'score': 0.39}, {'connected_gene': 'RSAD2', 'score': 0.39}, {'connected_gene': 'CMPK2', 'score': 0.39}]
chr2	GH02I006851	6851850	6852789	0.2	[{'connected_gene': 'NRIR', 'score': 0.39}, {'connected_gene': 'RSAD2', 'score': 0.39}, {'connected_gene': 'CMPK2', 'score': 0.39}]
chr2	GH02I006875	6875817	6876456	0.2	[{'connected_gene': 'NRIR', 'score': 11.16}, {'connected_gene': 'CMPK2', 'score': 0.44}, {'connected_gene': 'RSAD2', 'score': 0.39}, {'connected_gene': 'GC02P006897', 'score': 0.34}]
chr2	GH02I006896	6896415	6897457	0.6	[{'connected_gene': 'GC02P006897', 'score': 550.77}, {'connected_gene': 'RSAD2', 'score': 11.14}, {'connected_gene': 'CMPK2', 'score': 11.14}]