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
ENST00000321685	[[63997749, 63997791], [63997903, 63998412], [63999342, 63999436], [63999901, 64000086], [64000175, 64000337], [64001365, 64001452], [64001544, 64001753]]	[[63998326, 63998412], [63999342, 63999436], [63999901, 64000086], [64000175, 64000337], [64001365, 64001452], [64001544, 64001656]]
ENST00000355040	[[63998038, 63998412], [63999342, 63999436], [64001365, 64001656]]	[[63998326, 63998412], [63999342, 63999436], [64001365, 64001389]]
ENST00000536006	[[63998123, 63998412], [63998503, 63998619], [63999342, 63999436], [63999901, 64000086], [64000175, 64000184]]	[[63998326, 63998412], [63998503, 63998561]]
ENST00000321460	[[63998229, 63998412], [63999342, 63999436], [63999901, 64000086], [64000172, 64000337], [64001365, 64001753]]	[[63998326, 63998412], [63999342, 63999436], [63999901, 64000086], [64000172, 64000337], [64001365, 64001585]]
ENST00000537109	[[63999087, 64000086], [64000175, 64000516]]	None
ENST00000543685	[[63999272, 63999436], [63999901, 64000002]]	None
ENST00000543791	[[63999349, 63999436], [63999865, 64000086], [64000175, 64000356]]	None
ENST00000542376	[[63999349, 63999436], [63999901, 64000086], [64000175, 64000449]]	None
ENST00000535246	[[63999363, 63999436], [63999981, 64000086], [64000175, 64000337], [64001365, 64001452], [64001544, 64001619]]	[[63999363, 63999436], [63999981, 64000086], [64000175, 64000337], [64001365, 64001452], [64001544, 64001619]]
ENST00000538961	[[63999433, 63999436], [63999901, 64000086], [64000172, 64000518]]	None
ENST00000540945	[[64000963, 64001452], [64001544, 64001758]]	None
NM_005528	[[63997752, 63997791], [63997903, 63998412], [63999342, 63999436], [63999901, 64000086], [64000175, 64000337], [64001365, 64001452], [64001544, 64001753]]	[[63998326, 63998412], [63999342, 63999436], [63999901, 64000086], [64000175, 64000337], [64001365, 64001452], [64001544, 64001656]]
NM_001307981	[[63997903, 63998412], [63999342, 63999436], [63999901, 64000086], [64000175, 64000337], [64001365, 64001753]]	[[63998326, 63998412], [63999342, 63999436], [63999901, 64000086], [64000175, 64000337], [64001365, 64001585]]
NM_001307980	[[63997903, 63998412], [63999342, 63999436], [63999901, 64000086], [64000172, 64000337], [64001365, 64001753]]	[[63998326, 63998412], [63999342, 63999436], [63999901, 64000086], [64000172, 64000337], [64001365, 64001585]]

Promoter

Chrom	Start	End	Description
chr11	63997785	63997807	CAGE_peak_7_at_DNAJC4_5end
chr11	63997894	63997902	CAGE_peak_10_at_DNAJC4_5end
chr11	63997941	63997963	CAGE_peak_2_at_DNAJC4_5end
chr11	63998006	63998044	CAGE_peak_1_at_DNAJC4_5end
chr11	63998050	63998057	CAGE_peak_6_at_DNAJC4_5end
chr11	63998061	63998074	CAGE_peak_3_at_DNAJC4_5end
chr11	63998081	63998092	CAGE_peak_4_at_DNAJC4_5end
chr11	63998198	63998209	CAGE_peak_5_at_DNAJC4_5end
chr11	63998294	63998306	CAGE_peak_8_at_DNAJC4_5end
chr11	63998366	63998375	CAGE_peak_9_at_DNAJC4_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr11	GH11I064722	64722649	64724198	1.95	[{'connected_gene': 'NRXN2', 'score': 550.77}, {'connected_gene': 'SSSCA1', 'score': 12.13}, {'connected_gene': 'SF1', 'score': 11.69}, {'connected_gene': 'ZNHIT2', 'score': 11.24}, {'connected_gene': 'POLA2', 'score': 11.19}, {'connected_gene': 'SCYL1', 'score': 11.16}, {'connected_gene': 'ENSG00000257086', 'score': 10.73}, {'connected_gene': 'PCNX3', 'score': 10.08}, {'connected_gene': 'DNAJC4', 'score': 9.68}, {'connected_gene': 'MEN1', 'score': 6.09}, {'connected_gene': 'RASGRP2', 'score': 0.34}]
chr11	GH11I065129	65129689	65136857	2.31	[{'connected_gene': 'SYVN1', 'score': 550.77}, {'connected_gene': 'SPDYC', 'score': 33.37}, {'connected_gene': 'LOC728975', 'score': 21.58}, {'connected_gene': 'SSSCA1', 'score': 12.15}, {'connected_gene': 'PGAM1P8', 'score': 12.05}, {'connected_gene': 'CAPN1', 'score': 12.03}, {'connected_gene': 'ZNHIT2', 'score': 11.56}, {'connected_gene': 'SF1', 'score': 11.52}, {'connected_gene': 'POLA2', 'score': 11.29}, {'connected_gene': 'SCYL1', 'score': 11.19}, {'connected_gene': 'EIF1AD', 'score': 11.18}, {'connected_gene': 'ENSG00000254501', 'score': 10.87}, {'connected_gene': 'TM7SF2', 'score': 10.87}, {'connected_gene': 'VPS51', 'score': 10.79}, {'connected_gene': 'ENSG00000257086', 'score': 10.71}, {'connected_gene': 'PCNX3', 'score': 10.09}, {'connected_gene': 'DNAJC4', 'score': 9.66}, {'connected_gene': 'MIR6751', 'score': 0.77}, {'connected_gene': 'PIR35768', 'score': 0.77}, {'connected_gene': 'GC11M065131', 'score': 0.77}]
chr11	GH11I064204	64204109	64205258	0.93	[{'connected_gene': 'FERMT3', 'score': 550.77}, {'connected_gene': 'TRPT1', 'score': 27.84}, {'connected_gene': 'NUDT22', 'score': 12.24}, {'connected_gene': 'DNAJC4', 'score': 12.21}, {'connected_gene': 'ENSG00000257086', 'score': 11.67}, {'connected_gene': 'PLCB3', 'score': 11.66}, {'connected_gene': 'MACROD1', 'score': 11.44}, {'connected_gene': 'GPR137', 'score': 11.34}, {'connected_gene': 'BAD', 'score': 11.31}, {'connected_gene': 'GC11M064182', 'score': 0.37}, {'connected_gene': 'STIP1', 'score': 0.37}]
chr11	GH11I064282	64282937	64286697	2.22	[{'connected_gene': 'BAD', 'score': 550.77}, {'connected_gene': 'GPR137', 'score': 550.37}, {'connected_gene': 'LOC102723878', 'score': 24.8}, {'connected_gene': 'SF1', 'score': 21.65}, {'connected_gene': 'TRMT112', 'score': 21.15}, {'connected_gene': 'POLA2', 'score': 19.77}, {'connected_gene': 'ZFPL1', 'score': 14.52}, {'connected_gene': 'ZNHIT2', 'score': 11.22}, {'connected_gene': 'PLCB3', 'score': 11.1}, {'connected_gene': 'ENSG00000257086', 'score': 10.96}, {'connected_gene': 'FAU', 'score': 10.31}, {'connected_gene': 'DNAJC4', 'score': 9.87}, {'connected_gene': 'NRXN2', 'score': 6.6}, {'connected_gene': 'FERMT3', 'score': 5.36}, {'connected_gene': 'KCNK4', 'score': 0.44}]
chr11	GH11I064267	64267086	64274313	1.82	[{'connected_gene': 'GPR137', 'score': 550.77}, {'connected_gene': 'ZFPL1', 'score': 34.68}, {'connected_gene': 'SF1', 'score': 32.9}, {'connected_gene': 'POLA2', 'score': 32.78}, {'connected_gene': 'PLCB3', 'score': 27.53}, {'connected_gene': 'TRMT112', 'score': 23.09}, {'connected_gene': 'DNAJC4', 'score': 21.3}, {'connected_gene': 'ENSG00000257086', 'score': 20.68}, {'connected_gene': 'FAU', 'score': 20.2}, {'connected_gene': 'LOC102723878', 'score': 19.24}, {'connected_gene': 'TRPT1', 'score': 17.08}, {'connected_gene': 'NAALADL1', 'score': 15.12}, {'connected_gene': 'NRXN2', 'score': 13.07}, {'connected_gene': 'KCNK4', 'score': 12.91}, {'connected_gene': 'SPINDOC', 'score': 12.7}, {'connected_gene': 'ATL3', 'score': 12.19}, {'connected_gene': 'ESRRA', 'score': 11.38}, {'connected_gene': 'ZNHIT2', 'score': 11.22}, {'connected_gene': 'RCOR2', 'score': 11.14}, {'connected_gene': 'PRDX5', 'score': 10.91}, {'connected_gene': 'PPP2R5B', 'score': 10.6}, {'connected_gene': 'C11orf95', 'score': 10.12}, {'connected_gene': 'ENSG00000231680', 'score': 9.23}, {'connected_gene': 'CCDC88B', 'score': 4.54}, {'connected_gene': 'GC11P064262', 'score': 0.44}, {'connected_gene': 'BAD', 'score': 0.39}]
chr11	GH11I064316	64316107	64320161	2.3	[{'connected_gene': 'TRMT112', 'score': 571.32}, {'connected_gene': 'PRDX5', 'score': 550.77}, {'connected_gene': 'PIR36303', 'score': 550.77}, {'connected_gene': 'SF1', 'score': 39.1}, {'connected_gene': 'POLA2', 'score': 35.65}, {'connected_gene': 'ZFPL1', 'score': 25.69}, {'connected_gene': 'ENSG00000257086', 'score': 23.16}, {'connected_gene': 'PLCB3', 'score': 11.79}, {'connected_gene': 'ZNHIT2', 'score': 11.22}, {'connected_gene': 'DNAJC4', 'score': 9.81}, {'connected_gene': 'ATG2A', 'score': 9.69}, {'connected_gene': 'ENSG00000231680', 'score': 9.11}, {'connected_gene': 'ESRRA', 'score': 0.39}]
chr11	GH11I065012	65012880	65015539	2.08	[{'connected_gene': 'ARL2', 'score': 550.77}, {'connected_gene': 'ARL2-SNX15', 'score': 550.77}, {'connected_gene': 'ENSG00000257086', 'score': 31.27}, {'connected_gene': 'EIF1AD', 'score': 30.95}, {'connected_gene': 'PCNX3', 'score': 25.06}, {'connected_gene': 'ZFPL1', 'score': 22.61}, {'connected_gene': 'SSSCA1', 'score': 21.4}, {'connected_gene': 'POLA2', 'score': 21.14}, {'connected_gene': 'SF1', 'score': 11.53}, {'connected_gene': 'ZNHIT2', 'score': 11.34}, {'connected_gene': 'SCYL1', 'score': 11.17}, {'connected_gene': 'VPS51', 'score': 11.01}, {'connected_gene': 'KAT5', 'score': 10.68}, {'connected_gene': 'FRMD8', 'score': 10.59}, {'connected_gene': 'SART1', 'score': 10.16}, {'connected_gene': 'MEN1', 'score': 9.94}, {'connected_gene': 'DNAJC4', 'score': 9.67}, {'connected_gene': 'SPDYC', 'score': 5.65}, {'connected_gene': 'MIR6879', 'score': 0.77}]
chr11	GH11I064231	64231689	64231838	0.38	[{'connected_gene': 'DNAJC4', 'score': 550.77}, {'connected_gene': 'PIR49361', 'score': 550.77}, {'connected_gene': 'TRPT1', 'score': 29.61}, {'connected_gene': 'ENSG00000256116', 'score': 0.77}]
chr11	GH11I064274	64274879	64277731	0.82	[{'connected_gene': 'LOC102723878', 'score': 22.76}, {'connected_gene': 'DNAJC4', 'score': 11.65}, {'connected_gene': 'ESRRA', 'score': 11.4}, {'connected_gene': 'PRDX5', 'score': 10.92}, {'connected_gene': 'TRMT112', 'score': 10.92}, {'connected_gene': 'ENSG00000231680', 'score': 9.18}, {'connected_gene': 'BAD', 'score': 0.44}, {'connected_gene': 'GPR137', 'score': 0.44}]
chr11	GH11I064232	64232929	64232971	0.31	[{'connected_gene': 'PIR49361', 'score': 550.77}, {'connected_gene': 'VEGFB', 'score': 550.77}, {'connected_gene': 'ENSG00000256116', 'score': 550.77}, {'connected_gene': 'TRPT1', 'score': 17.64}, {'connected_gene': 'DNAJC4', 'score': 0.77}]
chr11	GH11I064233	64233001	64233200	0.38	[{'connected_gene': 'PIR49361', 'score': 550.77}, {'connected_gene': 'VEGFB', 'score': 550.77}, {'connected_gene': 'ENSG00000256116', 'score': 550.77}, {'connected_gene': 'TRPT1', 'score': 17.65}, {'connected_gene': 'DNAJC4', 'score': 0.77}]
chr11	GH11I064234	64233545	64236245	2.1	[{'connected_gene': 'PIR49361', 'score': 550.77}, {'connected_gene': 'VEGFB', 'score': 550.77}, {'connected_gene': 'ENSG00000256116', 'score': 550.77}, {'connected_gene': 'DNAJC4', 'score': 0.77}, {'connected_gene': 'PIR60417', 'score': 0.77}]
chr11	GH11I064229	64229185	64231401	1.97	[{'connected_gene': 'GC11P064229', 'score': 550.77}, {'connected_gene': 'DNAJC4', 'score': 550.77}, {'connected_gene': 'SF1', 'score': 24.98}, {'connected_gene': 'ZFPL1', 'score': 14.95}, {'connected_gene': 'PLCB3', 'score': 13.68}, {'connected_gene': 'ATG2A', 'score': 12.15}, {'connected_gene': 'NAALADL1', 'score': 11.57}, {'connected_gene': 'SYVN1', 'score': 10.69}, {'connected_gene': 'VPS51', 'score': 9.77}, {'connected_gene': 'ENSG00000256116', 'score': 6.16}, {'connected_gene': 'NUDT22', 'score': 0.77}, {'connected_gene': 'PIR49361', 'score': 0.77}]
chr11	GH11I063973	63973889	63976879	2.08	[{'connected_gene': 'ENSG00000256100', 'score': 550.77}, {'connected_gene': 'COX8A', 'score': 550.77}, {'connected_gene': 'SF1', 'score': 41.6}, {'connected_gene': 'PLCB3', 'score': 21.43}, {'connected_gene': 'TRMT112', 'score': 12.23}, {'connected_gene': 'ATG2A', 'score': 11.08}, {'connected_gene': 'ENSG00000257086', 'score': 10.75}, {'connected_gene': 'OTUB1', 'score': 10.33}, {'connected_gene': 'DNAJC4', 'score': 9.71}, {'connected_gene': 'NAA40', 'score': 4.51}, {'connected_gene': 'GC11P063911', 'score': 0.2}, {'connected_gene': 'GC11P063909', 'score': 0.2}]
chr11	GH11I064183	64183481	64187865	2.33	[{'connected_gene': 'GC11M064182', 'score': 550.77}, {'connected_gene': 'STIP1', 'score': 550.77}, {'connected_gene': 'TRPT1', 'score': 24.67}, {'connected_gene': 'ENSG00000257086', 'score': 21.53}, {'connected_gene': 'IMMP1LP1', 'score': 13.74}, {'connected_gene': 'FERMT3', 'score': 13.36}, {'connected_gene': 'SF1', 'score': 11.49}, {'connected_gene': 'C11orf95', 'score': 11.35}, {'connected_gene': 'ZNHIT2', 'score': 11.22}, {'connected_gene': 'PLCB3', 'score': 10.84}, {'connected_gene': 'ENSG00000256341', 'score': 10.34}, {'connected_gene': 'DNAJC4', 'score': 9.9}, {'connected_gene': 'NAA40', 'score': 9.75}, {'connected_gene': 'ZFPL1', 'score': 9.73}, {'connected_gene': 'VEGFB', 'score': 7.97}, {'connected_gene': 'ENSG00000256116', 'score': 5.65}, {'connected_gene': 'OTUB1', 'score': 2.03}, {'connected_gene': 'CCDC88B', 'score': 1.86}]