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
ENST00000219204	[[57279009, 57279317], [57279991, 57280053], [57282448, 57282555], [57283678, 57283764], [57284322, 57284419], [57286077, 57287516]]	[[57279279, 57279317], [57279991, 57280053], [57282448, 57282555], [57283678, 57283764], [57284322, 57284419], [57286077, 57286179]]
ENST00000565794	[[57279170, 57279317], [57279966, 57280053]]	None
ENST00000562023	[[57279261, 57279317], [57279991, 57280053], [57283691, 57283764], [57284322, 57284419], [57286077, 57286336]]	[[57279279, 57279317], [57279991, 57280053], [57283691, 57283764], [57284322, 57284419], [57286077, 57286179]]
ENST00000563234	[[57279287, 57279317], [57279991, 57280053], [57282448, 57282555], [57283678, 57283764], [57284322, 57284419], [57286153, 57287187]]	[[57279287, 57279317], [57279991, 57280053], [57282448, 57282555], [57283678, 57283764], [57284322, 57284419], [57286153, 57286285]]
NM_012106	[[57279037, 57279317], [57279991, 57280053], [57282448, 57282555], [57283678, 57283764], [57284322, 57284419], [57286077, 57287545]]	[[57279279, 57279317], [57279991, 57280053], [57282448, 57282555], [57283678, 57283764], [57284322, 57284419], [57286077, 57286179]]

Promoter

Chrom	Start	End	Description
chr16	57279004	57279050	CAGE_peak_3_at_ARL2BP_5end
chr16	57279052	57279099	CAGE_peak_2_at_ARL2BP_5end
chr16	57279115	57279126	CAGE_peak_7_at_ARL2BP_5end
chr16	57279135	57279180	CAGE_peak_1_at_ARL2BP_5end
chr16	57279182	57279210	CAGE_peak_4_at_ARL2BP_5end
chr16	57279223	57279240	CAGE_peak_6_at_ARL2BP_5end
chr16	57279248	57279276	CAGE_peak_5_at_ARL2BP_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr16	GH16I056930	56930491	56940546	2.32	[{'connected_gene': 'HERPUD1', 'score': 559.75}, {'connected_gene': 'RSPRY1', 'score': 58.79}, {'connected_gene': 'NUDT21', 'score': 40.3}, {'connected_gene': 'NUP93', 'score': 36.46}, {'connected_gene': 'POLR2C', 'score': 21.24}, {'connected_gene': 'CETP', 'score': 11.83}, {'connected_gene': 'SLC12A3', 'score': 11.45}, {'connected_gene': 'LOC105371286', 'score': 11.14}, {'connected_gene': 'ENSG00000261270', 'score': 11.1}, {'connected_gene': 'NLRC5', 'score': 10.96}, {'connected_gene': 'ENSG00000272372', 'score': 10.75}, {'connected_gene': 'ARL2BP', 'score': 10.1}, {'connected_gene': 'FAM192A', 'score': 9.51}]
chr16	GH16I057626	57626369	57631200	1.96	[{'connected_gene': 'ADGRG1', 'score': 550.37}, {'connected_gene': 'RSPRY1', 'score': 140.37}, {'connected_gene': 'LOC101927556', 'score': 77.36}, {'connected_gene': 'POLR2C', 'score': 48.14}, {'connected_gene': 'NUP93', 'score': 45.78}, {'connected_gene': 'LOC105371286', 'score': 30.85}, {'connected_gene': 'SETD6', 'score': 22.65}, {'connected_gene': 'ADGRG3', 'score': 11.84}, {'connected_gene': 'CSNK2A2', 'score': 11.25}, {'connected_gene': 'CCDC102A', 'score': 10.29}, {'connected_gene': 'ARL2BP', 'score': 10.09}, {'connected_gene': 'CFAP20', 'score': 9.94}, {'connected_gene': 'CNGB1', 'score': 9.54}, {'connected_gene': 'NDRG4', 'score': 5.27}, {'connected_gene': 'CCDC113', 'score': 4.88}, {'connected_gene': 'ADGRG5', 'score': 4.64}, {'connected_gene': 'GC16M057629', 'score': 0.77}, {'connected_gene': 'ENSG00000261633', 'score': 0.77}]
chr16	GH16I057184	57184496	57189131	2.27	[{'connected_gene': 'RSPRY1', 'score': 573.78}, {'connected_gene': 'FAM192A', 'score': 571.47}, {'connected_gene': 'NUP93', 'score': 18.42}, {'connected_gene': 'PLLP', 'score': 16.23}, {'connected_gene': 'NUDT21', 'score': 9.76}, {'connected_gene': 'ARL2BP', 'score': 0.22}]
chr16	GH16I057076	57076568	57077903	0.38	[{'connected_gene': 'FAM192A', 'score': 10.99}, {'connected_gene': 'RSPRY1', 'score': 10.99}, {'connected_gene': 'ARL2BP', 'score': 10.87}, {'connected_gene': 'ENSG00000260145', 'score': 0.37}, {'connected_gene': 'ENSG00000260148', 'score': 0.37}, {'connected_gene': 'NLRC5', 'score': 0.17}]
chr16	GH16I057306	57306505	57308408	0.46	[{'connected_gene': 'CCL22', 'score': 12.04}, {'connected_gene': 'CX3CL1', 'score': 12.01}, {'connected_gene': 'PLLP', 'score': 11.72}, {'connected_gene': 'ARL2BP', 'score': 10.39}, {'connected_gene': 'ENSG00000261114', 'score': 5.94}, {'connected_gene': 'TRL-CAG2-2', 'score': 0.44}, {'connected_gene': 'RPL23AP91', 'score': 0.39}, {'connected_gene': 'GC16M057308', 'score': 0.18}]
chr16	GH16I057303	57303574	57305811	1.35	[{'connected_gene': 'CCL22', 'score': 12.04}, {'connected_gene': 'CX3CL1', 'score': 12.01}, {'connected_gene': 'PLLP', 'score': 11.72}, {'connected_gene': 'ARL2BP', 'score': 10.68}, {'connected_gene': 'TRL-CAG2-2', 'score': 0.77}, {'connected_gene': 'RPL23AP91', 'score': 0.37}]
chr16	GH16I057431	57431908	57433416	0.52	[{'connected_gene': 'CIAPIN1', 'score': 16.67}, {'connected_gene': 'DOK4', 'score': 11.85}, {'connected_gene': 'POLR2C', 'score': 11.48}, {'connected_gene': 'ARL2BP', 'score': 9.66}, {'connected_gene': 'GC16P057430', 'score': 0.77}, {'connected_gene': 'GC16P057442', 'score': 0.44}]
chr16	GH16I057416	57416107	57419785	1.18	[{'connected_gene': 'CIAPIN1', 'score': 15.43}, {'connected_gene': 'NUDT21', 'score': 12.22}, {'connected_gene': 'CX3CL1', 'score': 11.84}, {'connected_gene': 'CCL22', 'score': 11.81}, {'connected_gene': 'PLLP', 'score': 11.76}, {'connected_gene': 'POLR2C', 'score': 11.37}, {'connected_gene': 'ARL2BP', 'score': 10.87}, {'connected_gene': 'GC16P057430', 'score': 0.39}, {'connected_gene': 'CCL17', 'score': 0.34}]
chr16	GH16I057434	57434069	57434218	0.2	[{'connected_gene': 'DOK4', 'score': 11.85}, {'connected_gene': 'POLR2C', 'score': 11.84}, {'connected_gene': 'CX3CL1', 'score': 10.84}, {'connected_gene': 'CCL22', 'score': 10.81}, {'connected_gene': 'ARL2BP', 'score': 10.08}, {'connected_gene': 'GC16P057430', 'score': 0.77}, {'connected_gene': 'GC16P057442', 'score': 0.44}, {'connected_gene': 'CIAPIN1', 'score': 0.39}]
chr16	GH16I057251	57251640	57254723	0.89	[{'connected_gene': 'PLLP', 'score': 27.96}, {'connected_gene': 'RSPRY1', 'score': 17.01}, {'connected_gene': 'LOC101927556', 'score': 11.56}, {'connected_gene': 'CSNK2A2', 'score': 11.25}, {'connected_gene': 'NUP93', 'score': 11.03}, {'connected_gene': 'ARL2BP', 'score': 0.44}, {'connected_gene': 'ENSG00000260038', 'score': 0.44}]
chr16	GH16I057235	57235534	57236340	0.76	[{'connected_gene': 'PLLP', 'score': 27.64}, {'connected_gene': 'FAM192A', 'score': 11.53}, {'connected_gene': 'RSPRY1', 'score': 11.53}, {'connected_gene': 'CCL22', 'score': 10.74}, {'connected_gene': 'CX3CL1', 'score': 10.73}, {'connected_gene': 'ARL2BP', 'score': 0.44}]
chr16	GH16I057234	57234890	57235475	0.38	[{'connected_gene': 'PLLP', 'score': 11.65}, {'connected_gene': 'FAM192A', 'score': 11.53}, {'connected_gene': 'RSPRY1', 'score': 11.53}, {'connected_gene': 'CCL22', 'score': 10.74}, {'connected_gene': 'CX3CL1', 'score': 10.73}, {'connected_gene': 'ARL2BP', 'score': 0.44}]
chr16	GH16I057190	57190490	57195999	1.13	[{'connected_gene': 'PLLP', 'score': 25.65}, {'connected_gene': 'FAM192A', 'score': 21.13}, {'connected_gene': 'ARL2BP', 'score': 10.97}, {'connected_gene': 'RSPRY1', 'score': 0.44}]
chr16	GH16I057248	57248886	57250249	0.2	[{'connected_gene': 'PLLP', 'score': 17.27}, {'connected_gene': 'ARL2BP', 'score': 0.77}, {'connected_gene': 'ENSG00000260038', 'score': 0.77}]
chr16	GH16I057244	57244082	57246394	2.25	[{'connected_gene': 'ARL2BP', 'score': 550.77}, {'connected_gene': 'ENSG00000276663', 'score': 550.77}, {'connected_gene': 'RSPRY1', 'score': 31.87}, {'connected_gene': 'PLLP', 'score': 18.39}, {'connected_gene': 'CSNK2A2', 'score': 12.02}, {'connected_gene': 'FAM192A', 'score': 11.07}]
chr16	GH16I057213	57213005	57214428	0.2	[{'connected_gene': 'ARL2BP', 'score': 12.26}, {'connected_gene': 'FAM192A', 'score': 11.09}, {'connected_gene': 'RSPRY1', 'score': 11.09}, {'connected_gene': 'PLLP', 'score': 8.57}]
chr16	GH16I057243	57243905	57243958	0.51	[{'connected_gene': 'ARL2BP', 'score': 550.77}, {'connected_gene': 'FAM192A', 'score': 0.22}]
chr16	GH16I057297	57297051	57297723	0.43	[{'connected_gene': 'ARL2BP', 'score': 11.65}, {'connected_gene': 'CCL22', 'score': 11.35}, {'connected_gene': 'CX3CL1', 'score': 11.32}, {'connected_gene': 'CIAPIN1', 'score': 10.86}, {'connected_gene': 'COQ9', 'score': 10.86}, {'connected_gene': 'POLR2C', 'score': 10.49}, {'connected_gene': 'MT1F', 'score': 5.21}, {'connected_gene': 'TRL-CAG2-1', 'score': 0.77}, {'connected_gene': 'PLLP', 'score': 0.39}]
chr16	GH16I057292	57292401	57293312	0.93	[{'connected_gene': 'ARL2BP', 'score': 11.66}, {'connected_gene': 'TRL-CAG2-1', 'score': 0.44}, {'connected_gene': 'PLLP', 'score': 0.44}]
chr16	GH16I057299	57297929	57298502	1	[{'connected_gene': 'TRL-CAG2-1', 'score': 550.77}, {'connected_gene': 'ARL2BP', 'score': 11.65}, {'connected_gene': 'CCL22', 'score': 11.35}, {'connected_gene': 'CX3CL1', 'score': 11.33}, {'connected_gene': 'CIAPIN1', 'score': 10.87}, {'connected_gene': 'COQ9', 'score': 10.87}, {'connected_gene': 'POLR2C', 'score': 10.49}, {'connected_gene': 'PLLP', 'score': 0.39}]
chr16	GH16I057298	57298675	57301483	1.52	[{'connected_gene': 'TRL-CAG2-2', 'score': 550.77}, {'connected_gene': 'TRL-CAG2-1', 'score': 550.77}, {'connected_gene': 'RSPRY1', 'score': 26.99}, {'connected_gene': 'POLR2C', 'score': 22.24}, {'connected_gene': 'FAM192A', 'score': 14.45}, {'connected_gene': 'CSNK2A2', 'score': 12.03}, {'connected_gene': 'CCL22', 'score': 11.83}, {'connected_gene': 'CX3CL1', 'score': 11.8}, {'connected_gene': 'ARL2BP', 'score': 11.65}, {'connected_gene': 'CIAPIN1', 'score': 10.87}, {'connected_gene': 'COQ9', 'score': 10.87}, {'connected_gene': 'NUDT21', 'score': 10.59}, {'connected_gene': 'LOC101927556', 'score': 9.73}, {'connected_gene': 'PLLP', 'score': 6.74}, {'connected_gene': 'MT1F', 'score': 5.12}, {'connected_gene': 'GINS3', 'score': 4.98}]
chr16	GH16I057141	57141226	57146281	1.21	[{'connected_gene': 'ENSG00000279019', 'score': 550.77}, {'connected_gene': 'ENSG00000279803', 'score': 550.77}, {'connected_gene': 'FAM192A', 'score': 27.32}, {'connected_gene': 'PLLP', 'score': 16.1}, {'connected_gene': 'RSPRY1', 'score': 10.83}, {'connected_gene': 'ARL2BP', 'score': 10.45}, {'connected_gene': 'BBS2', 'score': 5.05}, {'connected_gene': 'CPNE2', 'score': 0.23}]