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
ENST00000377924	[[38097726, 38097802], [38100185, 38101000]]	[[38097776, 38097802], [38100185, 38100987]]
NM_001195545	[[38097726, 38097802], [38100185, 38100987]]	[[38097776, 38097802], [38100185, 38100987]]

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	GH17I039916	39916192	39930545	2.58	[{'connected_gene': 'ORMDL3', 'score': 579.88}, {'connected_gene': 'GSDMB', 'score': 577.42}, {'connected_gene': 'GC17P039921', 'score': 550.77}, {'connected_gene': 'ENSG00000264968', 'score': 20.17}, {'connected_gene': 'MED1', 'score': 19.01}, {'connected_gene': 'SMARCE1', 'score': 14.65}, {'connected_gene': 'CDK12', 'score': 13.8}, {'connected_gene': 'GSDMA', 'score': 10.5}, {'connected_gene': 'IKZF3', 'score': 3.72}, {'connected_gene': 'ERBB2', 'score': 1.26}, {'connected_gene': 'LRRC3C', 'score': 0.77}]
chr17	GH17I039784	39784411	39789373	0.62	[{'connected_gene': 'ORMDL3', 'score': 31.75}, {'connected_gene': 'GSDMA', 'score': 16.41}, {'connected_gene': 'GSDMB', 'score': 14.46}, {'connected_gene': 'IKZF3', 'score': 11.75}, {'connected_gene': 'ZPBP2', 'score': 11.74}, {'connected_gene': 'MIEN1', 'score': 11.42}, {'connected_gene': 'LRRC3C', 'score': 10.65}, {'connected_gene': 'PGAP3', 'score': 10.28}, {'connected_gene': 'ERBB2', 'score': 10.28}, {'connected_gene': 'GC17P039774', 'score': 0.39}, {'connected_gene': 'GC17P039806', 'score': 0.37}]
chr17	GH17I039694	39694339	39697219	1.32	[{'connected_gene': 'PGAP3', 'score': 568.28}, {'connected_gene': 'MIEN1', 'score': 12.38}, {'connected_gene': 'GRB7', 'score': 11.65}, {'connected_gene': 'NEUROD2', 'score': 10.52}, {'connected_gene': 'ORMDL3', 'score': 9.9}, {'connected_gene': 'LRRC3C', 'score': 9.9}, {'connected_gene': 'ERBB2', 'score': 0.44}]
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	GH17I039847	39847516	39849377	0.66	[{'connected_gene': 'GSDMB', 'score': 38.26}, {'connected_gene': 'ORMDL3', 'score': 32.32}, {'connected_gene': 'LRRC3C', 'score': 10.92}, {'connected_gene': 'RPL39P4', 'score': 0.44}, {'connected_gene': 'IKZF3', 'score': 0.37}]
chr17	GH17I039852	39852130	39853260	0.89	[{'connected_gene': 'GSDMB', 'score': 17.47}, {'connected_gene': 'ORMDL3', 'score': 10.93}, {'connected_gene': 'LRRC3C', 'score': 10.92}, {'connected_gene': 'GSDMA', 'score': 6.03}, {'connected_gene': 'RPL39P4', 'score': 0.39}, {'connected_gene': 'IKZF3', 'score': 0.39}]
chr17	GH17I039824	39824985	39827377	0.31	[{'connected_gene': 'GSDMB', 'score': 25.27}, {'connected_gene': 'ORMDL3', 'score': 10.79}, {'connected_gene': 'LRRC3C', 'score': 10.79}, {'connected_gene': 'GSDMA', 'score': 5.92}, {'connected_gene': 'GC17P039815', 'score': 0.39}, {'connected_gene': 'KRT8P34', 'score': 0.39}, {'connected_gene': 'IKZF3', 'score': 0.28}]
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	GH17I039939	39939248	39940837	1.32	[{'connected_gene': 'GSDMA', 'score': 29.35}, {'connected_gene': 'CDK12', 'score': 20.67}, {'connected_gene': 'MED1', 'score': 17.45}, {'connected_gene': 'SMARCE1', 'score': 17.38}, {'connected_gene': 'MSL1', 'score': 12.62}, {'connected_gene': 'RPL19', 'score': 11.71}, {'connected_gene': 'RARA', 'score': 10.96}, {'connected_gene': 'IKZF3', 'score': 2.38}, {'connected_gene': 'GC17P039944', 'score': 0.77}, {'connected_gene': 'LRRC3C', 'score': 0.39}, {'connected_gene': 'ENSG00000264968', 'score': 0.39}]
chr17	GH17I039790	39790476	39796594	1.21	[{'connected_gene': 'GSDMA', 'score': 16.96}, {'connected_gene': 'IKZF3', 'score': 16.38}, {'connected_gene': 'GSDMB', 'score': 14.75}, {'connected_gene': 'LRRC3C', 'score': 12.46}, {'connected_gene': 'ZPBP2', 'score': 11.76}, {'connected_gene': 'GRB7', 'score': 11.05}, {'connected_gene': 'MIEN1', 'score': 11.04}, {'connected_gene': 'ORMDL3', 'score': 10.7}, {'connected_gene': 'PGAP3', 'score': 10.11}, {'connected_gene': 'ERBB2', 'score': 10.1}, {'connected_gene': 'MED24', 'score': 4.27}, {'connected_gene': 'GC17P039806', 'score': 0.39}, {'connected_gene': 'GC17P039774', 'score': 0.37}]
chr17	GH17I039842	39842971	39844294	0.69	[{'connected_gene': 'GSDMA', 'score': 16.22}, {'connected_gene': 'IKZF3', 'score': 12.33}, {'connected_gene': 'ZPBP2', 'score': 12.33}, {'connected_gene': 'ORMDL3', 'score': 10.68}, {'connected_gene': 'LRRC3C', 'score': 10.68}, {'connected_gene': 'GSDMB', 'score': 6.01}, {'connected_gene': 'RPL39P4', 'score': 0.77}]
chr17	GH17I039859	39859579	39869278	2.46	[{'connected_gene': 'ZPBP2', 'score': 550.77}, {'connected_gene': 'IKZF3', 'score': 550.77}, {'connected_gene': 'GSDMB', 'score': 40.18}, {'connected_gene': 'ORMDL3', 'score': 36.85}, {'connected_gene': 'MED24', 'score': 27.58}, {'connected_gene': 'GSDMA', 'score': 16.72}, {'connected_gene': 'TMEM99', 'score': 15.19}, {'connected_gene': 'LRRC3C', 'score': 11.81}, {'connected_gene': 'MSL1', 'score': 10.78}, {'connected_gene': 'MED1', 'score': 10.45}, {'connected_gene': 'PGAP3', 'score': 9.21}, {'connected_gene': 'PIR51928', 'score': 0.77}]