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
ENST00000269385	[[77765930, 77769357], [77769855, 77769922], [77770048, 77770114], [77770295, 77770339], [77770728, 77770915]]	[[77768433, 77769357], [77769855, 77769922], [77770048, 77770114], [77770295, 77770339], [77770728, 77770797]]
ENST00000413392	[[77768847, 77769357], [77769855, 77769922], [77770048, 77770114], [77770295, 77770339], [77772040, 77772130]]	[[77768847, 77769357], [77769855, 77769922], [77770048, 77770114], [77770295, 77770339], [77772040, 77772079]]
ENST00000427800	[[77769002, 77769357], [77769855, 77769922], [77770048, 77770114], [77770295, 77770339], [77775199, 77775332]]	[[77769002, 77769357], [77769855, 77769922], [77770048, 77770114], [77770295, 77770333]]
ENST00000485449	[[77769192, 77769357], [77769855, 77769922], [77770048, 77770114], [77775199, 77775482]]	None
NM_020649	[[77768175, 77769357], [77769855, 77769922], [77770048, 77770114], [77770295, 77770339], [77770728, 77770915]]	[[77768433, 77769357], [77769855, 77769922], [77770048, 77770114], [77770295, 77770339], [77770728, 77770797]]

Promoter

Chrom	Start	End	Description
chr17	77770830	77770884	CAGE_peak_1_at_CBX8_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr17	GH17I079826	79826188	79826800	1.3	[{'connected_gene': 'EIF4A3', 'score': 17.31}, {'connected_gene': 'CBX8', 'score': 13.32}, {'connected_gene': 'SGSH', 'score': 10.01}, {'connected_gene': 'LINC01977', 'score': 0.77}, {'connected_gene': 'CBX4', 'score': 0.39}]
chr17	GH17I079984	79984528	79995585	2.3	[{'connected_gene': 'EIF4A3', 'score': 25.29}, {'connected_gene': 'CCDC40', 'score': 23.25}, {'connected_gene': 'ENGASE', 'score': 14.06}, {'connected_gene': 'CBX2', 'score': 13.73}, {'connected_gene': 'TBC1D16', 'score': 11.96}, {'connected_gene': 'LOC100294362', 'score': 11.2}, {'connected_gene': 'ENDOV', 'score': 10.82}, {'connected_gene': 'SGSH', 'score': 9.93}, {'connected_gene': 'CANT1', 'score': 9.69}, {'connected_gene': 'ENSG00000262580', 'score': 5.5}, {'connected_gene': 'CBX4', 'score': 3.89}, {'connected_gene': 'CBX8', 'score': 2.16}, {'connected_gene': 'GAA', 'score': 1.26}, {'connected_gene': 'RNF213', 'score': 1.14}, {'connected_gene': 'ENSG00000262172', 'score': 0.77}, {'connected_gene': 'GC17P079977', 'score': 0.39}]
chr17	GH17I079835	79835510	79847030	2.59	[{'connected_gene': 'CBX4', 'score': 550.77}, {'connected_gene': 'USP36', 'score': 19.6}, {'connected_gene': 'CCDC40', 'score': 11.62}, {'connected_gene': 'LOC100294362', 'score': 11.19}, {'connected_gene': 'ENDOV', 'score': 10.8}, {'connected_gene': 'CBX8', 'score': 5.01}, {'connected_gene': 'ENSG00000262343', 'score': 0.44}]
chr17	GH17I079830	79830457	79833869	1.4	[{'connected_gene': 'USP36', 'score': 20.3}, {'connected_gene': 'CCDC40', 'score': 11.62}, {'connected_gene': 'LOC100294362', 'score': 11.19}, {'connected_gene': 'ENDOV', 'score': 10.8}, {'connected_gene': 'CBX8', 'score': 5.38}, {'connected_gene': 'LINC01977', 'score': 0.44}, {'connected_gene': 'CBX4', 'score': 0.44}]
chr17	GH17I079808	79808561	79816578	1.82	[{'connected_gene': 'CBX8', 'score': 15.99}, {'connected_gene': 'EIF4A3', 'score': 15.49}, {'connected_gene': 'CBX2', 'score': 13.41}, {'connected_gene': 'CBX4', 'score': 12.04}, {'connected_gene': 'USP36', 'score': 10.16}, {'connected_gene': 'ENGASE', 'score': 9.73}, {'connected_gene': 'CCDC40', 'score': 4.97}, {'connected_gene': 'PIR54271', 'score': 0.77}, {'connected_gene': 'LOC102723961', 'score': 0.77}]
chr17	GH17I079800	79800292	79802101	1.18	[{'connected_gene': 'CBX8', 'score': 550.77}, {'connected_gene': 'ENSG00000262768', 'score': 550.77}, {'connected_gene': 'EIF4A3', 'score': 15.69}, {'connected_gene': 'USP36', 'score': 11.69}, {'connected_gene': 'ENGASE', 'score': 10.72}, {'connected_gene': 'SGSH', 'score': 9.9}, {'connected_gene': 'CANT1', 'score': 9.69}]
chr17	GH17I079792	79792131	79795372	1.2	[{'connected_gene': 'CBX8', 'score': 21.27}, {'connected_gene': 'CBX4', 'score': 11.77}, {'connected_gene': 'ENSG00000262768', 'score': 0.44}, {'connected_gene': 'GC17P079785', 'score': 0.44}]
chr17	GH17I079804	79804095	79804902	1.43	[{'connected_gene': 'CBX8', 'score': 27.29}, {'connected_gene': 'CBX2', 'score': 4.91}, {'connected_gene': 'CBX4', 'score': 1.38}, {'connected_gene': 'PIR54271', 'score': 0.39}]
chr17	GH17I079757	79757042	79757408	0.39	[{'connected_gene': 'CBX8', 'score': 13.4}, {'connected_gene': 'CBX2', 'score': 2.06}, {'connected_gene': 'ENPP7', 'score': 0.31}]
chr17	GH17I079796	79796011	79798111	2.24	[{'connected_gene': 'CBX8', 'score': 557.22}, {'connected_gene': 'USP36', 'score': 17.41}, {'connected_gene': 'CBX4', 'score': 11.23}, {'connected_gene': 'ENSG00000262768', 'score': 0.77}, {'connected_gene': 'GC17P079785', 'score': 0.39}]
chr17	GH17I079802	79802711	79803099	1.3	[{'connected_gene': 'CBX8', 'score': 550.77}, {'connected_gene': 'CCDC40', 'score': 1.18}, {'connected_gene': 'PIR54271', 'score': 0.39}]
chr17	GH17I079219	79219328	79221529	1.13	[{'connected_gene': 'CBX8', 'score': 4.92}, {'connected_gene': 'RBFOX3', 'score': 2.03}, {'connected_gene': 'PIR62880', 'score': 0.39}, {'connected_gene': 'GC17M079268', 'score': 0.23}]
chr17	GH17I079801	79799942	79800011	0.76	[{'connected_gene': 'CBX8', 'score': 550.77}, {'connected_gene': 'ENSG00000262768', 'score': 550.77}, {'connected_gene': 'GC17P079785', 'score': 0.39}]
chr17	GH17I079803	79803961	79803993	0.66	[{'connected_gene': 'CBX8', 'score': 0.77}, {'connected_gene': 'PIR54271', 'score': 0.39}]
chr17	GH17I079805	79803668	79803909	0.72	[{'connected_gene': 'CBX8', 'score': 0.77}, {'connected_gene': 'PIR54271', 'score': 0.39}]
chr17	GH17I080218	80218289	80222793	2.01	[{'connected_gene': 'SLC26A11', 'score': 571.22}, {'connected_gene': 'SGSH', 'score': 550.77}, {'connected_gene': 'ENSG00000262580', 'score': 24.5}, {'connected_gene': 'CARD14', 'score': 12.33}, {'connected_gene': 'CBX8', 'score': 10.08}, {'connected_gene': 'GC17P080181', 'score': 0.28}]
chr17	GH17I079798	79798922	79799071	0.59	[{'connected_gene': 'ENSG00000262768', 'score': 550.77}, {'connected_gene': 'CBX4', 'score': 11.23}, {'connected_gene': 'CBX8', 'score': 0.77}, {'connected_gene': 'GC17P079785', 'score': 0.39}]
chr17	GH17I079799	79798402	79798911	0.9	[{'connected_gene': 'ENSG00000262768', 'score': 550.77}, {'connected_gene': 'CBX4', 'score': 11.23}, {'connected_gene': 'CBX8', 'score': 0.77}, {'connected_gene': 'GC17P079785', 'score': 0.39}]
chr17	GH17I079849	79849492	79852110	1.1	[{'connected_gene': 'ENSG00000262343', 'score': 550.77}, {'connected_gene': 'CBX8', 'score': 5.63}, {'connected_gene': 'GC17M079892', 'score': 0.26}]
chr17	GH17I080453	80453301	80458286	2.05	[{'connected_gene': 'ENSG00000260369', 'score': 550.77}, {'connected_gene': 'CEP131', 'score': 22.43}, {'connected_gene': 'TEPSIN', 'score': 13.64}, {'connected_gene': 'TBC1D16', 'score': 11.47}, {'connected_gene': 'LOC105371925', 'score': 10.61}, {'connected_gene': 'CBX8', 'score': 10.07}, {'connected_gene': 'NPTX1', 'score': 6.54}, {'connected_gene': 'EIF4A3', 'score': 6.4}, {'connected_gene': 'SGSH', 'score': 4.38}, {'connected_gene': 'GAA', 'score': 2.02}, {'connected_gene': 'SLC26A11', 'score': 1.18}, {'connected_gene': 'ENSG00000279273', 'score': 0.44}]