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
ENST00000367807	[[169337207, 169337580], [169338710, 169338788], [169345777, 169346621]]	[[169338760, 169338788], [169345777, 169346274]]
ENST00000367808	[[169337207, 169337580], [169338710, 169338788], [169345777, 169346217], [169347567, 169347767], [169349718, 169349847], [169351299, 169351519], [169356234, 169357543]]	[[169338760, 169338788], [169345777, 169346217], [169347567, 169347767], [169349718, 169349847], [169351299, 169351519], [169356234, 169356420]]
ENST00000329281	[[169337207, 169337580], [169338710, 169338788], [169345777, 169346217], [169347567, 169347767], [169349718, 169349847], [169351299, 169351519], [169356234, 169356447], [169365131, 169365778]]	[[169338760, 169338788], [169345777, 169346217], [169347567, 169347767], [169349718, 169349847], [169351299, 169351519], [169356234, 169356420]]
ENST00000420531	[[169337209, 169337580], [169338719, 169338788], [169345777, 169346132]]	[[169338760, 169338788], [169345777, 169346132]]
ENST00000426663	[[169337474, 169337600], [169338710, 169338788], [169345777, 169346217], [169347567, 169347767], [169349718, 169349800]]	[[169338760, 169338788], [169345777, 169346217], [169347567, 169347767], [169349718, 169349800]]
NM_001320972	[[169337116, 169337580], [169338710, 169338788], [169345777, 169346621]]	[[169338760, 169338788], [169345777, 169346274]]
NM_001320973	[[169337116, 169337580], [169338710, 169338788], [169345777, 169346217], [169347567, 169347767], [169349718, 169349847], [169351299, 169351519], [169356234, 169357543]]	[[169338760, 169338788], [169345777, 169346217], [169347567, 169347767], [169349718, 169349847], [169351299, 169351519], [169356234, 169356420]]
NM_003666	[[169337116, 169337580], [169338710, 169338788], [169345777, 169346217], [169347567, 169347767], [169349718, 169349847], [169351299, 169351519], [169356234, 169356447], [169365131, 169365782]]	[[169338760, 169338788], [169345777, 169346217], [169347567, 169347767], [169349718, 169349847], [169351299, 169351519], [169356234, 169356420]]

Promoter

Chrom	Start	End	Description
chr1	169337172	169337250	CAGE_peak_2_at_BLZF1_5end
chr1	169337412	169337497	CAGE_peak_1_at_BLZF1_5end
chr1	169337511	169337522	CAGE_peak_3_at_BLZF1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I169889	169889465	169895007	2.59	[{'connected_gene': 'SCYL3', 'score': 574.38}, {'connected_gene': 'METTL18', 'score': 51.72}, {'connected_gene': 'C1orf112', 'score': 25.15}, {'connected_gene': 'KIFAP3', 'score': 17.0}, {'connected_gene': 'BLZF1', 'score': 11.6}, {'connected_gene': 'RN7SL333P', 'score': 11.48}, {'connected_gene': 'GC01M169872', 'score': 0.77}]
chr1	GH01I169089	169089753	169096440	0.69	[{'connected_gene': 'SCYL3', 'score': 14.03}, {'connected_gene': 'C1orf112', 'score': 11.94}, {'connected_gene': 'RN7SL333P', 'score': 11.31}, {'connected_gene': 'METTL18', 'score': 11.03}, {'connected_gene': 'BLZF1', 'score': 10.33}, {'connected_gene': 'SELP', 'score': 10.01}, {'connected_gene': 'LINC00970', 'score': 0.44}, {'connected_gene': 'LOC101928596', 'score': 0.39}]
chr1	GH01I169362	169362412	169369565	2.47	[{'connected_gene': 'NME7', 'score': 579.09}, {'connected_gene': 'BLZF1', 'score': 550.77}, {'connected_gene': 'C1orf112', 'score': 23.76}, {'connected_gene': 'CCDC181', 'score': 19.63}, {'connected_gene': 'METTL18', 'score': 10.35}, {'connected_gene': 'ENSG00000235575', 'score': 0.22}]
chr1	GH01I169371	169371543	169371692	0.57	[{'connected_gene': 'NME7', 'score': 0.77}, {'connected_gene': 'BLZF1', 'score': 0.77}, {'connected_gene': 'LOC105371605', 'score': 0.77}]
chr1	GH01I169326	169326316	169327646	0.96	[{'connected_gene': 'NME7', 'score': 31.21}, {'connected_gene': 'CCDC181', 'score': 13.33}, {'connected_gene': 'ATP1B1', 'score': 10.08}, {'connected_gene': 'LOC101928596', 'score': 10.08}, {'connected_gene': 'ENSG00000235575', 'score': 0.37}, {'connected_gene': 'BLZF1', 'score': 0.26}]
chr1	GH01I169494	169494972	169495832	0.69	[{'connected_gene': 'NME7', 'score': 12.0}, {'connected_gene': 'CCDC181', 'score': 10.65}, {'connected_gene': 'SLC19A2', 'score': 4.92}, {'connected_gene': 'BLZF1', 'score': 3.05}, {'connected_gene': 'GC01P169489', 'score': 0.44}, {'connected_gene': 'GC01P169565', 'score': 0.19}]
chr1	GH01I169341	169341023	169341132	0.2	[{'connected_gene': 'NME7', 'score': 11.97}, {'connected_gene': 'ENSG00000235575', 'score': 11.95}, {'connected_gene': 'ATP1B1', 'score': 11.13}, {'connected_gene': 'LOC101928596', 'score': 11.13}, {'connected_gene': 'BLZF1', 'score': 0.31}]
chr1	GH01I169584	169584601	169587000	1.6	[{'connected_gene': 'F5', 'score': 556.07}, {'connected_gene': 'SCYL3', 'score': 4.15}, {'connected_gene': 'BLZF1', 'score': 2.72}, {'connected_gene': 'SLC19A2', 'score': 2.61}, {'connected_gene': 'GC01P169565', 'score': 0.34}]
chr1	GH01I169338	169338442	169339026	0.75	[{'connected_gene': 'ENSG00000235575', 'score': 11.97}, {'connected_gene': 'NME7', 'score': 11.97}, {'connected_gene': 'ATP1B1', 'score': 11.14}, {'connected_gene': 'LOC101928596', 'score': 11.13}, {'connected_gene': 'BLZF1', 'score': 0.31}]
chr1	GH01I169311	169311804	169312932	1.17	[{'connected_gene': 'ENSG00000235575', 'score': 550.77}, {'connected_gene': 'NME7', 'score': 36.41}, {'connected_gene': 'KIFAP3', 'score': 10.09}, {'connected_gene': 'BLZF1', 'score': 0.22}]