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
ENST00000264651	[[38854242, 38854592], [38854789, 38854902], [38855695, 38855913], [38856249, 38856375], [38856473, 38856635], [38857391, 38857548], [38858102, 38858185], [38859330, 38860002]]	[[38854488, 38854592], [38854789, 38854902], [38855695, 38855913], [38856249, 38856375], [38856473, 38856635], [38857391, 38857548], [38858102, 38858185], [38859330, 38859945]]
NM_019016	[[38854242, 38854592], [38854789, 38854902], [38855695, 38855913], [38856249, 38856375], [38856473, 38856635], [38857391, 38857548], [38858102, 38858185], [38859330, 38860002]]	[[38854488, 38854592], [38854789, 38854902], [38855695, 38855913], [38856249, 38856375], [38856473, 38856635], [38857391, 38857548], [38858102, 38858185], [38859330, 38859945]]

Promoter

Chrom	Start	End	Description
chr17	38859483	38859500	CAGE_peak_2_at_KRT24_5end
chr17	38859520	38859529	CAGE_peak_3_at_KRT24_5end
chr17	38859618	38859626	CAGE_peak_7_at_KRT24_5end
chr17	38859632	38859640	CAGE_peak_8_at_KRT24_5end
chr17	38859653	38859658	CAGE_peak_10_at_KRT24_5end
chr17	38859668	38859679	CAGE_peak_4_at_KRT24_5end
chr17	38859704	38859712	CAGE_peak_5_at_KRT24_5end
chr17	38859741	38859749	CAGE_peak_6_at_KRT24_5end
chr17	38859996	38860010	CAGE_peak_1_at_KRT24_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr17	GH17I040088	40088142	40102552	2.8	[{'connected_gene': 'NR1D1', 'score': 552.12}, {'connected_gene': 'CDK12', 'score': 55.71}, {'connected_gene': 'MED1', 'score': 46.52}, {'connected_gene': 'SMARCE1', 'score': 43.23}, {'connected_gene': 'MSL1', 'score': 35.27}, {'connected_gene': 'MED24', 'score': 18.58}, {'connected_gene': 'GSDMA', 'score': 15.4}, {'connected_gene': 'CCR7', 'score': 11.95}, {'connected_gene': 'THRA', 'score': 11.48}, {'connected_gene': 'RPL19', 'score': 10.62}, {'connected_gene': 'SNORD124', 'score': 10.61}, {'connected_gene': 'STARD3', 'score': 10.52}, {'connected_gene': 'TOP2A', 'score': 9.99}, {'connected_gene': 'ENSG00000266208', 'score': 5.99}, {'connected_gene': 'RARA', 'score': 5.19}, {'connected_gene': 'PGAP3', 'score': 5.02}, {'connected_gene': 'KRT24', 'score': 4.11}, {'connected_gene': 'GRB7', 'score': 2.16}, {'connected_gene': 'WIPF2', 'score': 1.49}, {'connected_gene': 'GC17P040082', 'score': 0.39}]
chr17	GH17I040478	40478436	40502480	2.24	[{'connected_gene': 'TNS4', 'score': 557.7}, {'connected_gene': 'SNORD124', 'score': 36.8}, {'connected_gene': 'SMARCE1', 'score': 21.15}, {'connected_gene': 'MED24', 'score': 20.14}, {'connected_gene': 'IGFBP4', 'score': 15.8}, {'connected_gene': 'KRT10', 'score': 12.49}, {'connected_gene': 'RPL23AP75', 'score': 11.48}, {'connected_gene': 'TOP2A', 'score': 10.93}, {'connected_gene': 'RAPGEFL1', 'score': 7.1}, {'connected_gene': 'CDC6', 'score': 4.77}, {'connected_gene': 'ORMDL3', 'score': 4.69}, {'connected_gene': 'WIPF2', 'score': 4.15}, {'connected_gene': 'THRA', 'score': 3.32}, {'connected_gene': 'KRT222', 'score': 2.7}, {'connected_gene': 'KRT24', 'score': 2.15}, {'connected_gene': 'MSL1', 'score': 1.92}, {'connected_gene': 'GJD3', 'score': 1.29}, {'connected_gene': 'GC17P040488', 'score': 0.77}]
chr17	GH17I040515	40515282	40524858	1.67	[{'connected_gene': 'TOP2A', 'score': 12.88}, {'connected_gene': 'CDC6', 'score': 11.96}, {'connected_gene': 'CCR7', 'score': 11.32}, {'connected_gene': 'IGFBP4', 'score': 11.27}, {'connected_gene': 'RPL23AP75', 'score': 11.26}, {'connected_gene': 'GJD3', 'score': 11.23}, {'connected_gene': 'RARA', 'score': 9.78}, {'connected_gene': 'SMARCE1', 'score': 5.95}, {'connected_gene': 'PPIAP54', 'score': 4.74}, {'connected_gene': 'TNS4', 'score': 4.38}, {'connected_gene': 'KRT24', 'score': 3.49}, {'connected_gene': 'TMEM99', 'score': 1.83}, {'connected_gene': 'LOC105371773', 'score': 0.77}, {'connected_gene': 'ENSG00000266088', 'score': 0.77}, {'connected_gene': 'LOC101059954', 'score': 0.77}]
chr17	GH17I040660	40660849	40661219	0.22	[{'connected_gene': 'SMARCE1', 'score': 23.71}, {'connected_gene': 'KRT24', 'score': 22.1}, {'connected_gene': 'KRT222', 'score': 0.77}, {'connected_gene': 'ENSG00000264058', 'score': 0.77}]
chr17	GH17I040703	40703742	40703801	0.5	[{'connected_gene': 'KRT24', 'score': 550.77}, {'connected_gene': 'KRT223P', 'score': 0.37}]
chr17	GH17I040707	40707518	40708949	0.67	[{'connected_gene': 'KRT24', 'score': 36.16}, {'connected_gene': 'KRT27', 'score': 10.24}, {'connected_gene': 'KRT222', 'score': 10.2}, {'connected_gene': 'SMARCE1', 'score': 10.16}, {'connected_gene': 'KRT37', 'score': 9.14}, {'connected_gene': 'KRT223P', 'score': 0.39}]
chr17	GH17I040726	40726970	40728820	0.72	[{'connected_gene': 'KRT24', 'score': 11.96}, {'connected_gene': 'TMEM99', 'score': 10.93}, {'connected_gene': 'KRT28', 'score': 9.87}, {'connected_gene': 'KRT222', 'score': 9.51}, {'connected_gene': 'SMARCE1', 'score': 9.49}, {'connected_gene': 'KRT37', 'score': 9.03}, {'connected_gene': 'KRT223P', 'score': 0.44}, {'connected_gene': 'KRT25', 'score': 0.31}]
chr17	GH17I040702	40702389	40702538	0.49	[{'connected_gene': 'KRT24', 'score': 550.77}, {'connected_gene': 'ENSG00000224244', 'score': 0.39}]
chr17	GH17I040696	40696469	40697558	0.59	[{'connected_gene': 'ENSG00000224244', 'score': 0.44}, {'connected_gene': 'KRT24', 'score': 0.44}, {'connected_gene': 'LOC105371775', 'score': 0.44}]
chr17	GH17I040694	40694709	40694858	0.65	[{'connected_gene': 'ENSG00000224244', 'score': 0.44}, {'connected_gene': 'KRT24', 'score': 0.44}, {'connected_gene': 'LOC105371775', 'score': 0.44}]