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
ENST00000264639	[[38137049, 38137443], [38140546, 38140737], [38142827, 38142965], [38144935, 38145072], [38145991, 38146182], [38146346, 38146450], [38151206, 38151321], [38151428, 38151548], [38151676, 38151780], [38152435, 38152591], [38153582, 38153633], [38153756, 38154213]]	[[38137223, 38137443], [38140546, 38140737], [38142827, 38142965], [38144935, 38145072], [38145991, 38146182], [38146346, 38146450], [38151206, 38151321], [38151428, 38151548], [38151676, 38151780], [38152435, 38152591], [38153582, 38153633], [38153756, 38153834]]
ENST00000415039	[[38137088, 38137343], [38140711, 38140737], [38142827, 38142965], [38144935, 38145072], [38145991, 38146182], [38146346, 38146450], [38151206, 38151321], [38151428, 38151548], [38151676, 38151780], [38152435, 38152591], [38152953, 38153046], [38153582, 38153633], [38153756, 38153864]]	[[38137223, 38137343], [38140711, 38140737], [38142827, 38142942]]
ENST00000541736	[[38137088, 38137343], [38140711, 38140737], [38142827, 38142965], [38144935, 38145072], [38145991, 38146182], [38146346, 38146450], [38151206, 38151321], [38151428, 38151548], [38151676, 38151780], [38152435, 38152591], [38152953, 38153046], [38153582, 38153633], [38153756, 38153864]]	[[38142830, 38142965], [38144935, 38145072], [38145991, 38146182], [38146346, 38146450], [38151206, 38151321], [38151428, 38151548], [38151676, 38151780], [38152435, 38152591], [38152953, 38152962]]
ENST00000540504	[[38142861, 38142965], [38144935, 38145072], [38145991, 38146046], [38154046, 38154208]]	[[38142861, 38142965], [38144935, 38145072], [38145991, 38146046], [38154046, 38154103]]
ENST00000580980	[[38142936, 38142965], [38144935, 38145072], [38145991, 38146405]]	None
ENST00000485835	[[38149250, 38151321], [38151428, 38151548], [38151676, 38152373]]	None
NM_002809	[[38137020, 38137443], [38140546, 38140737], [38142827, 38142965], [38144935, 38145072], [38145991, 38146182], [38146346, 38146450], [38151206, 38151321], [38151428, 38151548], [38151676, 38151780], [38152435, 38152591], [38153582, 38153633], [38153756, 38154213]]	[[38137223, 38137443], [38140546, 38140737], [38142827, 38142965], [38144935, 38145072], [38145991, 38146182], [38146346, 38146450], [38151206, 38151321], [38151428, 38151548], [38151676, 38151780], [38152435, 38152591], [38153582, 38153633], [38153756, 38153834]]

Promoter

Chrom	Start	End	Description
chr17	38137052	38137067	CAGE_peak_2_at_PSMD3_5end
chr17	38137073	38137124	CAGE_peak_1_at_PSMD3_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr17	GH17I040083	40083488	40085014	0.2	[{'connected_gene': 'MED24', 'score': 16.81}, {'connected_gene': 'THRA', 'score': 11.63}, {'connected_gene': 'MSL1', 'score': 11.58}, {'connected_gene': 'ORMDL3', 'score': 10.08}, {'connected_gene': 'LRRC3C', 'score': 10.08}, {'connected_gene': 'PSMD3', 'score': 9.63}, {'connected_gene': 'CDC6', 'score': 9.5}, {'connected_gene': 'GC17P040082', 'score': 0.77}, {'connected_gene': 'NR1D1', 'score': 0.37}]
chr17	GH17I040086	40086528	40086697	0.94	[{'connected_gene': 'MED24', 'score': 12.19}, {'connected_gene': 'THRA', 'score': 11.63}, {'connected_gene': 'MSL1', 'score': 11.58}, {'connected_gene': 'PSMD3', 'score': 10.67}, {'connected_gene': 'GSDMA', 'score': 10.48}, {'connected_gene': 'ORMDL3', 'score': 10.08}, {'connected_gene': 'LRRC3C', 'score': 10.08}, {'connected_gene': 'CDC6', 'score': 9.52}, {'connected_gene': 'GC17P040082', 'score': 0.77}, {'connected_gene': 'NR1D1', 'score': 0.39}]
chr17	GH17I040031	40031267	40033629	0.77	[{'connected_gene': 'MED24', 'score': 58.87}, {'connected_gene': 'GSDMA', 'score': 26.77}, {'connected_gene': 'THRA', 'score': 11.74}, {'connected_gene': 'PSMD3', 'score': 11.45}, {'connected_gene': 'RAPGEFL1', 'score': 11.08}, {'connected_gene': 'ORMDL3', 'score': 10.03}, {'connected_gene': 'LRRC3C', 'score': 10.03}, {'connected_gene': 'CDC6', 'score': 9.5}, {'connected_gene': 'SNORD124', 'score': 0.77}, {'connected_gene': 'GC17P040059', 'score': 0.31}]
chr17	GH17I040061	40061890	40076700	2.95	[{'connected_gene': 'THRA', 'score': 554.9}, {'connected_gene': 'GC17P040067', 'score': 550.77}, {'connected_gene': 'MED1', 'score': 33.4}, {'connected_gene': 'MED24', 'score': 31.76}, {'connected_gene': 'SMARCE1', 'score': 31.34}, {'connected_gene': 'MSL1', 'score': 28.13}, {'connected_gene': 'GSDMA', 'score': 20.29}, {'connected_gene': 'CDK12', 'score': 16.77}, {'connected_gene': 'RAPGEFL1', 'score': 10.71}, {'connected_gene': 'PSMD3', 'score': 10.61}, {'connected_gene': 'RPL19', 'score': 10.48}, {'connected_gene': 'TCAP', 'score': 8.67}, {'connected_gene': 'ORMDL3', 'score': 5.17}, {'connected_gene': 'GSDMB', 'score': 3.76}, {'connected_gene': 'NR1D1', 'score': 3.17}, {'connected_gene': 'PPP1R1B', 'score': 1.54}, {'connected_gene': 'NEUROD2', 'score': 1.27}, {'connected_gene': 'GC17P040059', 'score': 0.39}, {'connected_gene': 'GC17P040082', 'score': 0.39}]
chr17	GH17I039978	39978450	39982491	2.14	[{'connected_gene': 'PSMD3', 'score': 550.77}, {'connected_gene': 'MED1', 'score': 71.91}, {'connected_gene': 'CDK12', 'score': 67.65}, {'connected_gene': 'SMARCE1', 'score': 58.43}, {'connected_gene': 'GSDMA', 'score': 50.68}, {'connected_gene': 'MSL1', 'score': 22.14}, {'connected_gene': 'MED24', 'score': 21.58}, {'connected_gene': 'SNORD124', 'score': 14.45}, {'connected_gene': 'ORMDL3', 'score': 11.69}, {'connected_gene': 'LRRC3C', 'score': 11.69}, {'connected_gene': 'GSDMB', 'score': 10.71}, {'connected_gene': 'TMEM99', 'score': 10.28}, {'connected_gene': 'RPL19', 'score': 10.22}, {'connected_gene': 'STARD3', 'score': 9.92}, {'connected_gene': 'RARA', 'score': 9.8}, {'connected_gene': 'GC17M039978', 'score': 0.44}]
chr17	GH17I040077	40077451	40077698	0.2	[{'connected_gene': 'MSL1', 'score': 10.95}, {'connected_gene': 'PSMD3', 'score': 10.59}, {'connected_gene': 'GC17P040082', 'score': 0.77}, {'connected_gene': 'GC17P040067', 'score': 0.39}, {'connected_gene': 'THRA', 'score': 0.37}]
chr17	GH17I039972	39972168	39972710	0.86	[{'connected_gene': 'GSDMA', 'score': 53.46}, {'connected_gene': 'MED24', 'score': 7.36}, {'connected_gene': 'PSMD3', 'score': 0.44}]
chr17	GH17I039958	39958548	39959493	1.11	[{'connected_gene': 'GSDMA', 'score': 28.42}, {'connected_gene': 'PSMD3', 'score': 16.1}, {'connected_gene': 'ORMDL3', 'score': 12.23}, {'connected_gene': 'LRRC3C', 'score': 12.23}, {'connected_gene': 'GSDMB', 'score': 10.54}]
chr17	GH17I039962	39962955	39963014	0.68	[{'connected_gene': 'GSDMA', 'score': 578.61}, {'connected_gene': 'PSMD3', 'score': 0.37}]
chr17	GH17I039969	39969913	39970661	0.31	[{'connected_gene': 'GSDMA', 'score': 39.23}, {'connected_gene': 'PSMD3', 'score': 0.39}]
chr17	GH17I039963	39963948	39964135	0.7	[{'connected_gene': 'GSDMA', 'score': 550.39}, {'connected_gene': 'PSMD3', 'score': 0.37}]
chr17	GH17I039966	39966742	39968177	0.58	[{'connected_gene': 'GSDMA', 'score': 37.02}, {'connected_gene': 'PSMD3', 'score': 0.39}]
chr17	GH17I039952	39952368	39953960	1.4	[{'connected_gene': 'GSDMA', 'score': 580.47}, {'connected_gene': 'GSDMB', 'score': 12.37}, {'connected_gene': 'PSMD3', 'score': 11.59}, {'connected_gene': 'GC17M039945', 'score': 0.44}]