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
ENST00000215095	[[31000576, 31004222], [31004450, 31004561], [31004667, 31004805], [31008003, 31008077], [31008271, 31008380], [31008822, 31008896], [31012248, 31012323], [31012414, 31012514], [31012849, 31012924], [31021687, 31021949]]	[[31004141, 31004222], [31004450, 31004561], [31004667, 31004805], [31008003, 31008077], [31008271, 31008380], [31008822, 31008896], [31012248, 31012323], [31012414, 31012514], [31012849, 31012924], [31021687, 31021717]]
ENST00000569638	[[31000578, 31004222], [31004450, 31004561], [31004667, 31004805], [31008003, 31008077], [31008271, 31008380], [31008822, 31008896], [31012248, 31012276]]	[[31004141, 31004222], [31004450, 31004561], [31004667, 31004805], [31008003, 31008077], [31008271, 31008380], [31008822, 31008896], [31012248, 31012276]]
ENST00000565419	[[31004028, 31004561], [31004667, 31004805], [31008003, 31008077], [31008271, 31008380], [31008822, 31008896], [31012248, 31012323], [31012414, 31012514], [31012849, 31012924], [31021687, 31021717]]	[[31004402, 31004561], [31004667, 31004805], [31008003, 31008077], [31008271, 31008380], [31008822, 31008896], [31012248, 31012323], [31012414, 31012514], [31012849, 31012924], [31021687, 31021717]]
ENST00000566211	[[31007519, 31008077], [31008271, 31008365]]	None
ENST00000561836	[[31012216, 31012323], [31012414, 31012514], [31012849, 31012924], [31021687, 31021823]]	None
NM_052874	[[31000576, 31004222], [31004450, 31004561], [31004667, 31004805], [31008003, 31008077], [31008271, 31008380], [31008822, 31008896], [31012248, 31012323], [31012414, 31012514], [31012849, 31012924], [31021687, 31021959]]	[[31004141, 31004222], [31004450, 31004561], [31004667, 31004805], [31008003, 31008077], [31008271, 31008380], [31008822, 31008896], [31012248, 31012323], [31012414, 31012514], [31012849, 31012924], [31021687, 31021717]]

Promoter

Chrom	Start	End	Description
chr16	31021773	31021781	CAGE_peak_4_at_STX1B_5end
chr16	31021916	31021920	CAGE_peak_3_at_STX1B_5end
chr16	31021921	31022044	CAGE_peak_1_at_STX1B_5end
chr16	31022196	31022218	CAGE_peak_2_at_STX1B_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr16	GH16I030995	30995820	30999995	1.55	[{'connected_gene': 'SETD1A', 'score': 38.5}, {'connected_gene': 'SRCAP', 'score': 38.23}, {'connected_gene': 'ENSG00000260267', 'score': 35.3}, {'connected_gene': 'C16orf58', 'score': 34.66}, {'connected_gene': 'ZNF747', 'score': 32.93}, {'connected_gene': 'BCL7C', 'score': 28.24}, {'connected_gene': 'SMG1P5', 'score': 26.91}, {'connected_gene': 'ZNF764', 'score': 26.69}, {'connected_gene': 'NPIPB13', 'score': 21.82}, {'connected_gene': 'ENSG00000260304', 'score': 21.06}, {'connected_gene': 'FUS', 'score': 20.85}, {'connected_gene': 'KAT8', 'score': 20.08}, {'connected_gene': 'FBRS', 'score': 17.72}, {'connected_gene': 'RNF40', 'score': 16.41}, {'connected_gene': 'ZNF646', 'score': 14.84}, {'connected_gene': 'ZNF785', 'score': 13.15}, {'connected_gene': 'ZNF720', 'score': 12.38}, {'connected_gene': 'ZNF689', 'score': 11.54}, {'connected_gene': 'PRR14', 'score': 11.54}, {'connected_gene': 'TGFB1I1', 'score': 11.29}, {'connected_gene': 'HSD3B7', 'score': 11.12}, {'connected_gene': 'ENSG00000262766', 'score': 11.11}, {'connected_gene': 'ZNF688', 'score': 10.68}, {'connected_gene': 'SLX1A', 'score': 10.58}, {'connected_gene': 'PPP4C', 'score': 9.68}, {'connected_gene': 'STX1B', 'score': 8.64}, {'connected_gene': 'LOC647086', 'score': 5.15}, {'connected_gene': 'GC16P031001', 'score': 0.77}, {'connected_gene': 'GC16P031002', 'score': 0.77}, {'connected_gene': 'ENSG00000279196', 'score': 0.44}]
chr16	GH16I030994	30994400	30994843	1.34	[{'connected_gene': 'KAT8', 'score': 18.92}, {'connected_gene': 'SETD1A', 'score': 18.19}, {'connected_gene': 'ENSG00000260267', 'score': 15.67}, {'connected_gene': 'BCL7C', 'score': 12.7}, {'connected_gene': 'ENSG00000260304', 'score': 12.38}, {'connected_gene': 'SMG1P5', 'score': 12.01}, {'connected_gene': 'SRCAP', 'score': 11.69}, {'connected_gene': 'ZNF747', 'score': 10.55}, {'connected_gene': 'ZNF768', 'score': 9.96}, {'connected_gene': 'ITGAX', 'score': 9.33}, {'connected_gene': 'STX4', 'score': 8.75}, {'connected_gene': 'ZNF646', 'score': 4.69}, {'connected_gene': 'ITGAM', 'score': 2.14}, {'connected_gene': 'ZNF668', 'score': 2.07}, {'connected_gene': 'FUS', 'score': 2.02}, {'connected_gene': 'GC16P031001', 'score': 0.44}, {'connected_gene': 'GC16P031002', 'score': 0.44}, {'connected_gene': 'ENSG00000279196', 'score': 0.44}, {'connected_gene': 'STX1B', 'score': 0.37}]
chr16	GH16I031025	31025601	31026400	1.02	[{'connected_gene': 'KAT8', 'score': 22.45}, {'connected_gene': 'SMG1P5', 'score': 15.26}, {'connected_gene': 'SRCAP', 'score': 14.81}, {'connected_gene': 'SETD1A', 'score': 14.32}, {'connected_gene': 'ENSG00000260267', 'score': 13.87}, {'connected_gene': 'ENSG00000260304', 'score': 12.81}, {'connected_gene': 'ZNF747', 'score': 11.75}, {'connected_gene': 'NPIPB13', 'score': 11.16}, {'connected_gene': 'FUS', 'score': 11.04}, {'connected_gene': 'BCL7C', 'score': 10.85}, {'connected_gene': 'ZNF764', 'score': 10.65}, {'connected_gene': 'TGFB1I1', 'score': 9.68}, {'connected_gene': 'STX4', 'score': 0.44}, {'connected_gene': 'STX1B', 'score': 0.37}]
chr16	GH16I031137	31137991	31143150	1.96	[{'connected_gene': 'KAT8', 'score': 21.74}, {'connected_gene': 'STX1B', 'score': 4.95}, {'connected_gene': 'ENSG00000260304', 'score': 4.77}, {'connected_gene': 'PRSS8', 'score': 0.77}, {'connected_gene': 'PRSS36', 'score': 0.44}]
chr16	GH16I030939	30939714	30943358	1.13	[{'connected_gene': 'HSD3B7', 'score': 41.09}, {'connected_gene': 'ZNF668', 'score': 22.48}, {'connected_gene': 'KAT8', 'score': 12.71}, {'connected_gene': 'SETD1A', 'score': 12.17}, {'connected_gene': 'ZNF646', 'score': 11.35}, {'connected_gene': 'MIR762', 'score': 11.33}, {'connected_gene': 'CTF1', 'score': 11.33}, {'connected_gene': 'BCL7C', 'score': 11.33}, {'connected_gene': 'CCDC189', 'score': 11.12}, {'connected_gene': 'RNF40', 'score': 11.12}, {'connected_gene': 'STX1B', 'score': 11.08}, {'connected_gene': 'STX4', 'score': 11.03}, {'connected_gene': 'FUS', 'score': 10.62}, {'connected_gene': 'SRCAP', 'score': 10.45}, {'connected_gene': 'PRSS36', 'score': 10.33}, {'connected_gene': 'SNORA30', 'score': 10.29}, {'connected_gene': 'ZNF720', 'score': 9.93}, {'connected_gene': 'PIR56097', 'score': 0.77}, {'connected_gene': 'FBXL19-AS1', 'score': 0.37}, {'connected_gene': 'FBXL19', 'score': 0.37}]
chr16	GH16I031007	31007001	31010238	0.92	[{'connected_gene': 'HSD3B7', 'score': 23.98}, {'connected_gene': 'TGFB1I1', 'score': 16.09}, {'connected_gene': 'BCL7C', 'score': 15.3}, {'connected_gene': 'SMG1P5', 'score': 14.66}, {'connected_gene': 'ENSG00000260267', 'score': 13.67}, {'connected_gene': 'SRCAP', 'score': 13.51}, {'connected_gene': 'ENSG00000260304', 'score': 13.43}, {'connected_gene': 'ZNF764', 'score': 11.73}, {'connected_gene': 'SETD1A', 'score': 11.39}, {'connected_gene': 'ZNF747', 'score': 10.28}, {'connected_gene': 'ORAI3', 'score': 9.96}, {'connected_gene': 'GDPD3', 'score': 9.94}, {'connected_gene': 'STX1B', 'score': 0.77}, {'connected_gene': 'GC16P031002', 'score': 0.44}, {'connected_gene': 'GC16P031001', 'score': 0.44}]
chr16	GH16I030746	30746806	30749401	2.05	[{'connected_gene': 'PHKG2', 'score': 550.77}, {'connected_gene': 'ZNF764', 'score': 9.62}, {'connected_gene': 'STX1B', 'score': 6.15}, {'connected_gene': 'ENSG00000260899', 'score': 0.44}]
chr16	GH16I031302	31302180	31302329	0.6	[{'connected_gene': 'PYCARD', 'score': 11.65}, {'connected_gene': 'PYDC1', 'score': 11.43}, {'connected_gene': 'FUS', 'score': 11.07}, {'connected_gene': 'STX4', 'score': 10.56}, {'connected_gene': 'STX1B', 'score': 10.55}, {'connected_gene': 'SETD1A', 'score': 10.29}, {'connected_gene': 'ITGAM', 'score': 0.26}, {'connected_gene': 'ITGAX', 'score': 0.23}]
chr16	GH16I031247	31247920	31249021	0.43	[{'connected_gene': 'PYDC1', 'score': 33.23}, {'connected_gene': 'TRIM72', 'score': 12.51}, {'connected_gene': 'PYCARD', 'score': 12.46}, {'connected_gene': 'FUS', 'score': 11.27}, {'connected_gene': 'PRSS36', 'score': 10.91}, {'connected_gene': 'STX4', 'score': 10.35}, {'connected_gene': 'STX1B', 'score': 10.29}, {'connected_gene': 'LOC730183', 'score': 4.29}, {'connected_gene': 'GC16P031244', 'score': 0.44}, {'connected_gene': 'ITGAM', 'score': 0.39}]
chr16	GH16I031404	31404146	31405309	1.06	[{'connected_gene': 'COX6A2', 'score': 12.93}, {'connected_gene': 'ARMC5', 'score': 11.09}, {'connected_gene': 'PRSS8', 'score': 11.08}, {'connected_gene': 'PRSS36', 'score': 11.05}, {'connected_gene': 'PYCARD', 'score': 10.54}, {'connected_gene': 'STX4', 'score': 10.18}, {'connected_gene': 'STX1B', 'score': 10.0}, {'connected_gene': 'ENSG00000260740', 'score': 9.61}, {'connected_gene': 'ENSG00000260757', 'score': 0.77}, {'connected_gene': 'ITGAD', 'score': 0.39}, {'connected_gene': 'ENSG00000277543', 'score': 0.34}]
chr16	GH16I031399	31399801	31400600	0.46	[{'connected_gene': 'COX6A2', 'score': 12.9}, {'connected_gene': 'PRSS8', 'score': 11.08}, {'connected_gene': 'ARMC5', 'score': 11.08}, {'connected_gene': 'PRSS36', 'score': 11.05}, {'connected_gene': 'PYCARD', 'score': 10.54}, {'connected_gene': 'STX4', 'score': 10.18}, {'connected_gene': 'STX1B', 'score': 10.0}, {'connected_gene': 'ENSG00000260740', 'score': 7.39}, {'connected_gene': 'ENSG00000260757', 'score': 0.77}, {'connected_gene': 'ITGAD', 'score': 0.44}, {'connected_gene': 'GC16P031393', 'score': 0.44}]
chr16	GH16I031010	31010400	31011001	1.52	[{'connected_gene': 'STX1B', 'score': 550.77}, {'connected_gene': 'HSD3B7', 'score': 23.24}, {'connected_gene': 'STX4', 'score': 0.34}]
chr16	GH16I031016	31016300	31016369	0.72	[{'connected_gene': 'STX1B', 'score': 0.44}, {'connected_gene': 'STX4', 'score': 0.37}]
chr16	GH16I031001	31001623	31004078	1.01	[{'connected_gene': 'GC16P031002', 'score': 550.77}, {'connected_gene': 'GC16P031001', 'score': 550.77}, {'connected_gene': 'KAT8', 'score': 19.64}, {'connected_gene': 'ZNF668', 'score': 11.94}, {'connected_gene': 'STX4', 'score': 11.66}, {'connected_gene': 'SETD1A', 'score': 11.65}, {'connected_gene': 'ZNF646', 'score': 11.48}, {'connected_gene': 'HSD3B7', 'score': 10.77}, {'connected_gene': 'PRSS36', 'score': 10.74}, {'connected_gene': 'PRSS8', 'score': 10.23}, {'connected_gene': 'FUS', 'score': 10.1}, {'connected_gene': 'STX1B', 'score': 0.44}]
chr16	GH16I031005	31005801	31006400	0.49	[{'connected_gene': 'ENSG00000260911', 'score': 22.67}, {'connected_gene': 'HSD3B7', 'score': 11.36}, {'connected_gene': 'GC16P031002', 'score': 0.77}, {'connected_gene': 'GC16P031001', 'score': 0.77}, {'connected_gene': 'STX1B', 'score': 0.77}]
chr16	GH16I031063	31063131	31066969	1.5	[{'connected_gene': 'PIR50865', 'score': 550.77}, {'connected_gene': 'ENSG00000261124', 'score': 550.77}, {'connected_gene': 'PIR62408', 'score': 550.77}, {'connected_gene': 'PIR48497', 'score': 550.77}, {'connected_gene': 'ZNF668', 'score': 550.44}, {'connected_gene': 'KAT8', 'score': 20.9}, {'connected_gene': 'ENSG00000260911', 'score': 19.68}, {'connected_gene': 'HSD3B7', 'score': 10.15}, {'connected_gene': 'STX1B', 'score': 10.09}]
chr16	GH16I031385	31385840	31385989	0.43	[{'connected_gene': 'GC16M031380', 'score': 550.77}, {'connected_gene': 'ITGAX', 'score': 11.91}, {'connected_gene': 'PYCARD', 'score': 11.53}, {'connected_gene': 'COX6A2', 'score': 11.52}, {'connected_gene': 'HSD3B7', 'score': 10.76}, {'connected_gene': 'SETD1A', 'score': 10.76}, {'connected_gene': 'PRSS36', 'score': 10.7}, {'connected_gene': 'STX4', 'score': 10.31}, {'connected_gene': 'STX1B', 'score': 10.27}, {'connected_gene': 'ITGAD', 'score': 0.44}]
chr16	GH16I031386	31386167	31387101	0.93	[{'connected_gene': 'GC16M031380', 'score': 550.77}, {'connected_gene': 'ITGAX', 'score': 11.91}, {'connected_gene': 'PYCARD', 'score': 11.53}, {'connected_gene': 'COX6A2', 'score': 11.52}, {'connected_gene': 'HSD3B7', 'score': 10.76}, {'connected_gene': 'SETD1A', 'score': 10.76}, {'connected_gene': 'PRSS36', 'score': 10.7}, {'connected_gene': 'STX4', 'score': 10.31}, {'connected_gene': 'STX1B', 'score': 10.27}, {'connected_gene': 'ENSG00000260740', 'score': 10.18}, {'connected_gene': 'CLUHP3', 'score': 3.94}, {'connected_gene': 'ITGAD', 'score': 0.44}]
chr16	GH16I030758	30758471	30759778	0.43	[{'connected_gene': 'GC16P030758', 'score': 550.77}, {'connected_gene': 'ZNF629', 'score': 12.14}, {'connected_gene': 'SNORA30', 'score': 11.83}, {'connected_gene': 'SRCAP', 'score': 11.79}, {'connected_gene': 'RNU6-1043P', 'score': 11.44}, {'connected_gene': 'BCL7C', 'score': 10.47}, {'connected_gene': 'CTF1', 'score': 10.47}, {'connected_gene': 'MIR762', 'score': 10.47}, {'connected_gene': 'STX1B', 'score': 7.56}, {'connected_gene': 'ENSG00000260911', 'score': 6.63}, {'connected_gene': 'RNF40', 'score': 0.77}, {'connected_gene': 'CCDC189', 'score': 0.77}, {'connected_gene': 'PHKG2', 'score': 0.39}]
chr16	GH16I031002	31001001	31001200	0.31	[{'connected_gene': 'GC16P031002', 'score': 550.77}, {'connected_gene': 'GC16P031001', 'score': 550.77}, {'connected_gene': 'STX1B', 'score': 0.44}, {'connected_gene': 'ENSG00000279196', 'score': 0.39}]
chr16	GH16I031041	31041540	31042950	0.76	[{'connected_gene': 'ENSG00000260911', 'score': 550.77}, {'connected_gene': 'LOC101928762', 'score': 550.77}, {'connected_gene': 'HSD3B7', 'score': 23.05}, {'connected_gene': 'KAT8', 'score': 22.58}, {'connected_gene': 'STX1B', 'score': 10.83}, {'connected_gene': 'STX4', 'score': 0.44}]