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

Promoter

Chrom	Start	End	Description
chr19	571277	571325	CAGE_peak_3_at_BSG_5end
chr19	571340	571366	CAGE_peak_6_at_BSG_5end
chr19	571370	571380	CAGE_peak_11_at_BSG_5end
chr19	571515	571536	CAGE_peak_5_at_BSG_5end
chr19	572543	572579	CAGE_peak_2_at_BSG_5end
chr19	572587	572605	CAGE_peak_1_at_BSG_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I000514	514041	515170	0.62	[{'connected_gene': 'BSG', 'score': 11.77}, {'connected_gene': 'TPGS1', 'score': 0.44}, {'connected_gene': 'LOC105372232', 'score': 0.44}, {'connected_gene': 'CDC34', 'score': 0.37}]
chr19	GH19I000823	823464	823960	1.19	[{'connected_gene': 'AZU1', 'score': 573.21}, {'connected_gene': 'PLPPR3', 'score': 562.97}, {'connected_gene': 'GC19P000823', 'score': 550.77}, {'connected_gene': 'PRTN3', 'score': 12.42}, {'connected_gene': 'ELANE', 'score': 8.01}, {'connected_gene': 'PRSS57', 'score': 3.1}, {'connected_gene': 'BSG', 'score': 1.9}, {'connected_gene': 'PTBP1', 'score': 1.69}]
chr19	GH19I000516	516541	519840	1.34	[{'connected_gene': 'DAZAP1', 'score': 16.4}, {'connected_gene': 'TMEM259', 'score': 15.98}, {'connected_gene': 'CFD', 'score': 14.79}, {'connected_gene': 'MIER2', 'score': 12.5}, {'connected_gene': 'PTBP1', 'score': 11.95}, {'connected_gene': 'BSG', 'score': 11.78}, {'connected_gene': 'MED16', 'score': 11.44}, {'connected_gene': 'ENSG00000267317', 'score': 11.29}, {'connected_gene': 'RNF126', 'score': 10.62}, {'connected_gene': 'GRIN3B', 'score': 10.53}, {'connected_gene': 'MIDN', 'score': 10.38}, {'connected_gene': 'CNN2', 'score': 9.81}, {'connected_gene': 'TPGS1', 'score': 6.52}, {'connected_gene': 'LOC105372232', 'score': 0.39}, {'connected_gene': 'CDC34', 'score': 0.39}]
chr19	GH19I000867	867005	867400	0.69	[{'connected_gene': 'CFD', 'score': 22.93}, {'connected_gene': 'MED16', 'score': 8.78}, {'connected_gene': 'ODF3L2', 'score': 4.95}, {'connected_gene': 'ATP5F1D', 'score': 4.34}, {'connected_gene': 'GPX4', 'score': 4.21}, {'connected_gene': 'TPGS1', 'score': 3.69}, {'connected_gene': 'CNN2', 'score': 2.75}, {'connected_gene': 'POLRMT', 'score': 2.16}, {'connected_gene': 'BSG', 'score': 1.73}, {'connected_gene': 'C19orf24', 'score': 1.17}, {'connected_gene': 'PIR33777', 'score': 0.44}]
chr19	GH19I000569	569647	577000	2.77	[{'connected_gene': 'LOC105372233', 'score': 579.92}, {'connected_gene': 'BSG', 'score': 560.69}, {'connected_gene': 'GC19P000572', 'score': 550.77}, {'connected_gene': 'GC19P000573', 'score': 550.77}, {'connected_gene': 'TMEM259', 'score': 20.94}, {'connected_gene': 'DAZAP1', 'score': 15.58}, {'connected_gene': 'PTBP1', 'score': 15.38}, {'connected_gene': 'ENSG00000267317', 'score': 14.63}, {'connected_gene': 'SBNO2', 'score': 11.99}, {'connected_gene': 'MED16', 'score': 11.83}, {'connected_gene': 'MIDN', 'score': 11.16}, {'connected_gene': 'GRIN3B', 'score': 10.95}, {'connected_gene': 'ARID3A', 'score': 10.93}, {'connected_gene': 'CDC34', 'score': 2.83}, {'connected_gene': 'R3HDM4', 'score': 2.07}, {'connected_gene': 'ODF3L2', 'score': 1.75}, {'connected_gene': 'GC19P000583', 'score': 0.44}]
chr19	GH19I000566	566001	568400	1.12	[{'connected_gene': 'LOC105372233', 'score': 25.91}, {'connected_gene': 'POLRMT', 'score': 12.32}, {'connected_gene': 'FGF22', 'score': 12.31}, {'connected_gene': 'BSG', 'score': 6.14}, {'connected_gene': 'PIR53036', 'score': 0.77}]
chr19	GH19I000778	778481	779755	1.54	[{'connected_gene': 'GC19P000784', 'score': 550.77}, {'connected_gene': 'MIDN', 'score': 5.92}, {'connected_gene': 'BSG', 'score': 1.35}, {'connected_gene': 'GPX4', 'score': 1.25}, {'connected_gene': 'CNN2', 'score': 1.24}, {'connected_gene': 'GC19P000771', 'score': 0.44}]
chr19	GH19I000588	588201	588430	1.08	[{'connected_gene': 'GC19P000591', 'score': 550.77}, {'connected_gene': 'GC19P000592', 'score': 550.77}, {'connected_gene': 'HCN2', 'score': 550.77}, {'connected_gene': 'BSG', 'score': 9.5}, {'connected_gene': 'CDC34', 'score': 6.33}, {'connected_gene': 'GC19M000583', 'score': 0.77}]

Transcript ID	Transcript exon region	Coding exon region
ENST00000346916	[[571296, 571579], [580378, 580461], [580645, 580782], [581314, 581591], [582305, 582330], [582513, 582582], [582749, 583493]]	[[571547, 571579], [580378, 580461], [580645, 580782], [581314, 581591], [582305, 582330], [582513, 582577]]
ENST00000545507	[[571304, 571579], [579499, 579656], [580378, 580461], [580645, 580782], [581314, 581591], [582305, 582330], [582513, 582582], [582749, 583493]]	[[580433, 580461], [580645, 580782], [581314, 581591], [582305, 582330], [582513, 582577]]
ENST00000333511	[[572564, 572701], [577773, 578121], [579499, 579656], [580378, 580461], [580645, 580782], [581314, 581591], [582305, 582330], [582513, 582582], [582749, 583490]]	[[572634, 572701], [577773, 578121], [579499, 579656], [580378, 580461], [580645, 580782], [581314, 581591], [582305, 582330], [582513, 582577]]
ENST00000576925	[[572571, 572701], [579499, 579979]]	None
ENST00000573216	[[572571, 572701], [579523, 579656], [580378, 580461], [580645, 580782], [581314, 581376]]	[[572634, 572701], [579523, 579656], [580378, 580461], [580645, 580782], [581314, 581376]]
ENST00000353555	[[572577, 572701], [579499, 579656], [580378, 580461], [580645, 580782], [581314, 581591], [582305, 582330], [582513, 582582], [582749, 583493]]	[[572634, 572701], [579499, 579656], [580378, 580461], [580645, 580782], [581314, 581591], [582305, 582330], [582513, 582577]]
ENST00000590218	[[572595, 572701], [577773, 578212]]	None
ENST00000572899	[[572595, 572701], [579499, 579656], [580378, 580695]]	None
ENST00000573784	[[575046, 575140], [579499, 579656], [580378, 580461], [580645, 580782], [581314, 581402]]	[[580433, 580461], [580645, 580782], [581314, 581402]]
ENST00000574970	[[575051, 575140], [577773, 578121], [579499, 579629]]	None
ENST00000576984	[[575220, 575386], [579499, 579656], [580378, 580461], [580645, 580775]]	[[580433, 580461], [580645, 580775]]
ENST00000571735	[[578847, 579656], [580378, 580461], [580645, 580782], [581314, 581591], [582305, 582330], [582513, 582582], [582749, 583492]]	None
NM_198591	[[571276, 571579], [580378, 580461], [580645, 580782], [581314, 581591], [582305, 582330], [582513, 582582], [582749, 583493]]	[[571547, 571579], [580378, 580461], [580645, 580782], [581314, 581591], [582305, 582330], [582513, 582577]]
NM_198590	[[571276, 571579], [579499, 579656], [580378, 580461], [580645, 580782], [581314, 581591], [582305, 582330], [582513, 582582], [582749, 583493]]	[[580433, 580461], [580645, 580782], [581314, 581591], [582305, 582330], [582513, 582577]]
NM_001322243	[[572453, 572701], [579499, 579656], [580378, 580461], [580645, 580782], [581314, 581591], [582305, 582330], [582513, 582578], [582749, 583493]]	[[572634, 572701], [579499, 579656], [580378, 580461], [580645, 580782], [581314, 581591], [582305, 582330]]
NM_198589	[[572453, 572701], [579499, 579656], [580378, 580461], [580645, 580782], [581314, 581591], [582305, 582330], [582513, 582582], [582749, 583493]]	[[572634, 572701], [579499, 579656], [580378, 580461], [580645, 580782], [581314, 581591], [582305, 582330], [582513, 582577]]
NM_001728	[[572453, 572701], [577773, 578121], [579499, 579656], [580378, 580461], [580645, 580782], [581314, 581591], [582305, 582330], [582513, 582582], [582749, 583493]]	[[572634, 572701], [577773, 578121], [579499, 579656], [580378, 580461], [580645, 580782], [581314, 581591], [582305, 582330], [582513, 582577]]