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
ENST00000269878	[[16272178, 16272297], [16275528, 16275724], [16278947, 16279095], [16280440, 16280552], [16283972, 16284007], [16284235, 16284336]]	[[16272275, 16272297], [16275528, 16275724], [16278947, 16279095], [16280440, 16280552], [16283972, 16284007], [16284235, 16284286]]
ENST00000379859	[[16272225, 16272297], [16275528, 16275724], [16278947, 16279095], [16284235, 16284286]]	[[16272275, 16272297], [16275528, 16275724], [16278947, 16279095], [16284235, 16284286]]
ENST00000541493	[[16272225, 16272297], [16275528, 16275724], [16283972, 16284007], [16284235, 16284286]]	None
ENST00000597251	[[16272225, 16272297], [16275528, 16275724], [16278947, 16279095], [16280440, 16280533], [16283972, 16284007], [16284235, 16284286]]	[[16280481, 16280533], [16283972, 16284007], [16284235, 16284286]]
NM_054113	[[16272178, 16272297], [16275528, 16275724], [16278947, 16279095], [16280440, 16280552], [16283972, 16284007], [16284235, 16284336]]	[[16272275, 16272297], [16275528, 16275724], [16278947, 16279095], [16280440, 16280552], [16283972, 16284007], [16284235, 16284286]]
NM_001300922	[[16272178, 16272297], [16275528, 16275724], [16278947, 16279095], [16284235, 16284336]]	[[16272275, 16272297], [16275528, 16275724], [16278947, 16279095], [16284235, 16284286]]

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I016154	16154091	16154220	0.77	[{'connected_gene': 'AP1M1', 'score': 6.04}, {'connected_gene': 'ENSG00000269243', 'score': 0.39}, {'connected_gene': 'CIB3', 'score': 0.37}, {'connected_gene': 'HSH2D', 'score': 0.34}]
chr19	GH19I016162	16162978	16163613	0.6	[{'connected_gene': 'AP1M1', 'score': 6.27}, {'connected_gene': 'CIB3', 'score': 0.39}, {'connected_gene': 'ENSG00000269243', 'score': 0.34}]
chr19	GH19I016160	16160450	16162642	1.26	[{'connected_gene': 'AP1M1', 'score': 7.58}, {'connected_gene': 'KLF2', 'score': 6.24}, {'connected_gene': 'CIB3', 'score': 0.39}, {'connected_gene': 'ENSG00000269243', 'score': 0.34}]
chr19	GH19I016139	16139175	16148144	2.59	[{'connected_gene': 'HSH2D', 'score': 550.44}, {'connected_gene': 'RAB8A', 'score': 4.2}, {'connected_gene': 'EPS15L1', 'score': 1.63}, {'connected_gene': 'ENSG00000269243', 'score': 0.77}, {'connected_gene': 'CIB3', 'score': 0.31}]
chr19	GH19I016091	16091435	16099081	1.4	[{'connected_gene': 'HSH2D', 'score': 18.18}, {'connected_gene': 'CIB3', 'score': 12.07}, {'connected_gene': 'FAM32A', 'score': 12.05}, {'connected_gene': 'EPS15L1', 'score': 3.94}, {'connected_gene': 'RAB8A', 'score': 2.3}, {'connected_gene': 'ENSG00000267373', 'score': 0.44}, {'connected_gene': 'ENSG00000279198', 'score': 0.37}, {'connected_gene': 'TPM4', 'score': 0.31}]
chr19	GH19I016101	16101316	16102221	0.2	[{'connected_gene': 'TPM4', 'score': 12.95}, {'connected_gene': 'CIB3', 'score': 12.08}, {'connected_gene': 'FAM32A', 'score': 12.06}, {'connected_gene': 'AP1M1', 'score': 11.27}, {'connected_gene': 'ENSG00000267373', 'score': 0.77}, {'connected_gene': 'ENSG00000279198', 'score': 0.34}]
chr19	GH19I016168	16168149	16169772	1.31	[{'connected_gene': 'OR10H3', 'score': 10.14}, {'connected_gene': 'OR10H2', 'score': 9.36}, {'connected_gene': 'AP1M1', 'score': 6.32}, {'connected_gene': 'OR10H4', 'score': 5.33}, {'connected_gene': 'CIB3', 'score': 0.77}, {'connected_gene': 'GC19M016168', 'score': 0.44}, {'connected_gene': 'ENSG00000269243', 'score': 0.31}]
chr19	GH19I016172	16172411	16173973	1.28	[{'connected_gene': 'CIB3', 'score': 550.77}, {'connected_gene': 'GC19M016168', 'score': 550.77}, {'connected_gene': 'AP1M1', 'score': 8.74}, {'connected_gene': 'ENSG00000269243', 'score': 0.29}]
chr19	GH19I016155	16155144	16156359	0.89	[{'connected_gene': 'CIB3', 'score': 0.37}, {'connected_gene': 'ENSG00000269243', 'score': 0.37}, {'connected_gene': 'HSH2D', 'score': 0.34}]
chr19	GH19I016148	16148201	16151133	0.97	[{'connected_gene': 'CIB3', 'score': 13.84}, {'connected_gene': 'FAM32A', 'score': 13.78}, {'connected_gene': 'AP1M1', 'score': 6.86}, {'connected_gene': 'ENSG00000269243', 'score': 0.44}, {'connected_gene': 'HSH2D', 'score': 0.37}]
chr19	GH19I016153	16153731	16153880	0.8	[{'connected_gene': 'ENSG00000269243', 'score': 0.39}, {'connected_gene': 'CIB3', 'score': 0.37}, {'connected_gene': 'HSH2D', 'score': 0.37}]
chr19	GH19I016040	16040461	16042000	1.03	[{'connected_gene': 'GC19P020200', 'score': 550.77}, {'connected_gene': 'GC19P020003', 'score': 550.77}, {'connected_gene': 'GC19P019991', 'score': 550.77}, {'connected_gene': 'PIR43139', 'score': 550.77}, {'connected_gene': 'GC19P020107', 'score': 550.77}, {'connected_gene': 'GC19P020051', 'score': 550.77}, {'connected_gene': 'GC19P019999', 'score': 550.77}, {'connected_gene': 'GC19P020066', 'score': 550.77}, {'connected_gene': 'GC19P020002', 'score': 550.77}, {'connected_gene': 'PIR50480', 'score': 550.77}, {'connected_gene': 'GC19P020064', 'score': 550.77}, {'connected_gene': 'PIR56721', 'score': 550.77}, {'connected_gene': 'GC19P020089', 'score': 550.77}, {'connected_gene': 'PIR55179', 'score': 550.77}, {'connected_gene': 'PIR40826', 'score': 550.77}, {'connected_gene': 'GC19P020171', 'score': 550.77}, {'connected_gene': 'PIR46894', 'score': 550.77}, {'connected_gene': 'PIR62552', 'score': 550.77}, {'connected_gene': 'GC19P020177', 'score': 550.77}, {'connected_gene': 'GC19P020205', 'score': 550.77}, {'connected_gene': 'GC19P020028', 'score': 550.77}, {'connected_gene': 'GC19P020027', 'score': 550.77}, {'connected_gene': 'PIR31653', 'score': 550.77}, {'connected_gene': 'GC19P019935', 'score': 550.77}, {'connected_gene': 'PIR57771', 'score': 550.77}, {'connected_gene': 'PIR41477', 'score': 550.77}, {'connected_gene': 'PIR36207', 'score': 550.77}, {'connected_gene': 'GC19P020218', 'score': 550.77}, {'connected_gene': 'PIR58392', 'score': 550.77}, {'connected_gene': 'GC19P019886', 'score': 550.77}, {'connected_gene': 'PIR51994', 'score': 550.77}, {'connected_gene': 'GC19P020044', 'score': 550.77}, {'connected_gene': 'PIR53395', 'score': 550.77}, {'connected_gene': 'PIR51467', 'score': 550.77}, {'connected_gene': 'GC19P020005', 'score': 550.77}, {'connected_gene': 'GC19P019966', 'score': 550.77}, {'connected_gene': 'PIR57305', 'score': 550.77}, {'connected_gene': 'GC19P020138', 'score': 550.77}, {'connected_gene': 'GC19P020160', 'score': 550.77}, {'connected_gene': 'GC19P019895', 'score': 550.77}, {'connected_gene': 'GC19P019989', 'score': 550.77}, {'connected_gene': 'PIR36547', 'score': 550.77}, {'connected_gene': 'PIR54487', 'score': 550.77}, {'connected_gene': 'GC19P020112', 'score': 550.77}, {'connected_gene': 'PIR36365', 'score': 550.77}, {'connected_gene': 'GC19P019982', 'score': 550.77}, {'connected_gene': 'GC19P020183', 'score': 550.77}, {'connected_gene': 'PIR42646', 'score': 550.77}, {'connected_gene': 'PIR34603', 'score': 550.77}, {'connected_gene': 'PIR34872', 'score': 550.77}, {'connected_gene': 'GC19P020161', 'score': 550.77}, {'connected_gene': 'GC19P019932', 'score': 550.77}, {'connected_gene': 'PIR40891', 'score': 550.77}, {'connected_gene': 'PIR54694', 'score': 550.77}, {'connected_gene': 'PIR38270', 'score': 550.77}, {'connected_gene': 'GC19P020021', 'score': 550.77}, {'connected_gene': 'PIR36485', 'score': 550.77}, {'connected_gene': 'PIR52874', 'score': 550.77}, {'connected_gene': 'PIR34291', 'score': 550.77}, {'connected_gene': 'PIR51955', 'score': 550.77}, {'connected_gene': 'GC19P020128', 'score': 550.77}, {'connected_gene': 'GC19P020088', 'score': 550.77}, {'connected_gene': 'PIR62405', 'score': 550.77}, {'connected_gene': 'GC19P019885', 'score': 550.77}, {'connected_gene': 'GC19P020166', 'score': 550.77}, {'connected_gene': 'GC19P019952', 'score': 550.77}, {'connected_gene': 'PIR40315', 'score': 550.77}, {'connected_gene': 'GC19P020020', 'score': 550.77}, {'connected_gene': 'PIR49346', 'score': 550.77}, {'connected_gene': 'GC19P020032', 'score': 550.77}, {'connected_gene': 'PIR50815', 'score': 550.77}, {'connected_gene': 'CIB3', 'score': 11.84}, {'connected_gene': 'FAM32A', 'score': 11.84}, {'connected_gene': 'SNX33P1', 'score': 11.51}, {'connected_gene': 'AP1M1', 'score': 11.31}, {'connected_gene': 'OR10H4', 'score': 10.52}, {'connected_gene': 'OR10H5', 'score': 9.53}, {'connected_gene': 'LINC00905', 'score': 6.44}, {'connected_gene': 'GC19P020273', 'score': 0.77}, {'connected_gene': 'OR1AB1P', 'score': 0.39}, {'connected_gene': 'PIRC97', 'score': 0.26}]
chr19	GH19I016351	16351207	16351856	1.29	[{'connected_gene': 'ENSG00000277825', 'score': 550.77}, {'connected_gene': 'KLF2', 'score': 12.54}, {'connected_gene': 'EPS15L1', 'score': 10.11}, {'connected_gene': 'CIB3', 'score': 1.64}, {'connected_gene': 'GC19M016221', 'score': 0.07}]