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
ENST00000348931	[[38024416, 38024659], [38024801, 38024867], [38026946, 38027072], [38027716, 38027878], [38028522, 38028741], [38029296, 38029379], [38031506, 38031687], [38032934, 38033397]]	[[38024607, 38024659], [38024801, 38024867], [38026946, 38027072], [38027716, 38027878], [38028522, 38028741], [38029296, 38029379], [38031506, 38031687], [38032934, 38033062]]
ENST00000583811	[[38024468, 38024659], [38028522, 38028741], [38029296, 38029379], [38031506, 38031687], [38032934, 38033055]]	[[38024607, 38024659], [38028522, 38028741], [38029296, 38029379], [38031506, 38031687], [38032934, 38033055]]
ENST00000584588	[[38024468, 38024659], [38024801, 38024867], [38026946, 38027072], [38027716, 38027878], [38029296, 38029379], [38031506, 38031687], [38032934, 38033402]]	[[38024607, 38024659], [38024801, 38024867], [38026946, 38027072], [38027716, 38027878], [38029296, 38029379], [38031506, 38031687], [38032934, 38033062]]
ENST00000377940	[[38024468, 38024659], [38026946, 38027072], [38027716, 38027878], [38028522, 38028741], [38029296, 38029379], [38031506, 38031687], [38032934, 38034149]]	[[38024607, 38024659], [38026946, 38027072], [38027716, 38027878], [38028522, 38028741], [38029296, 38029379], [38031506, 38031687], [38032934, 38033062]]
NM_198844	[[38024454, 38024659], [38026946, 38027072], [38027716, 38027878], [38028522, 38028741], [38029296, 38029379], [38031506, 38031687], [38032934, 38034149]]	[[38024607, 38024659], [38026946, 38027072], [38027716, 38027878], [38028522, 38028741], [38029296, 38029379], [38031506, 38031687], [38032934, 38033062]]
NM_199321	[[38024454, 38024659], [38024801, 38024867], [38026946, 38027072], [38027716, 38027878], [38028522, 38028741], [38029296, 38029379], [38031506, 38031687], [38032934, 38034149]]	[[38024607, 38024659], [38024801, 38024867], [38026946, 38027072], [38027716, 38027878], [38028522, 38028741], [38029296, 38029379], [38031506, 38031687], [38032934, 38033062]]

Promoter

Chrom	Start	End	Description
chr17	38024449	38024478	CAGE_peak_1_at_ZPBP2_5end
chr17	38024486	38024489	CAGE_peak_4_at_ZPBP2_5end
chr17	38024491	38024508	CAGE_peak_2_at_ZPBP2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
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	GH17I040306	40306131	40328919	2.72	[{'connected_gene': 'RARA', 'score': 590.34}, {'connected_gene': 'MED1', 'score': 174.74}, {'connected_gene': 'SMARCE1', 'score': 131.66}, {'connected_gene': 'SNORD124', 'score': 126.51}, {'connected_gene': 'CDK12', 'score': 120.93}, {'connected_gene': 'MED24', 'score': 72.11}, {'connected_gene': 'MSL1', 'score': 52.0}, {'connected_gene': 'TMEM99', 'score': 23.68}, {'connected_gene': 'CDC6', 'score': 11.42}, {'connected_gene': 'WIPF2', 'score': 11.12}, {'connected_gene': 'PGAP3', 'score': 10.8}, {'connected_gene': 'TOP2A', 'score': 10.68}, {'connected_gene': 'ENSG00000264968', 'score': 10.29}, {'connected_gene': 'IGFBP4', 'score': 10.16}, {'connected_gene': 'STARD3', 'score': 9.9}, {'connected_gene': 'ENSG00000266208', 'score': 9.52}, {'connected_gene': 'IKZF3', 'score': 9.28}, {'connected_gene': 'KRTAP9-7', 'score': 5.67}, {'connected_gene': 'CCR7', 'score': 4.6}, {'connected_gene': 'RAPGEFL1', 'score': 4.15}, {'connected_gene': 'CASC3', 'score': 2.85}, {'connected_gene': 'ZPBP2', 'score': 1.4}, {'connected_gene': 'GC17P040322', 'score': 0.77}, {'connected_gene': 'GC17M040321', 'score': 0.77}, {'connected_gene': 'GC17M040319', 'score': 0.77}, {'connected_gene': 'GC17M040320', 'score': 0.77}, {'connected_gene': 'LOC105371934', 'score': 0.44}]
chr17	GH17I039799	39798370	39798448	0.42	[{'connected_gene': 'GRB7', 'score': 10.96}, {'connected_gene': 'MIEN1', 'score': 10.95}, {'connected_gene': 'PGAP3', 'score': 10.11}, {'connected_gene': 'ERBB2', 'score': 10.09}, {'connected_gene': 'GSDMA', 'score': 9.75}, {'connected_gene': 'IKZF3', 'score': 2.88}, {'connected_gene': 'ZPBP2', 'score': 1.36}, {'connected_gene': 'GSDMB', 'score': 1.29}, {'connected_gene': 'GC17P039806', 'score': 0.44}, {'connected_gene': 'GC17P039774', 'score': 0.34}]
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}]
chr17	GH17I039870	39870402	39872245	0.38	[{'connected_gene': 'GC17P039873', 'score': 550.77}, {'connected_gene': 'PIR34549', 'score': 550.77}, {'connected_gene': 'ORMDL3', 'score': 25.81}, {'connected_gene': 'RAPGEFL1', 'score': 8.94}, {'connected_gene': 'GSDMA', 'score': 7.36}, {'connected_gene': 'ZPBP2', 'score': 0.77}]