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
ENST00000269397	[[77806954, 77809194], [77809444, 77809511], [77811635, 77811701], [77812809, 77812853], [77812981, 77813228]]	[[77807757, 77809194], [77809444, 77809511], [77811635, 77811701], [77812809, 77812853], [77812981, 77813050]]
ENST00000448310	[[77808842, 77809194], [77809444, 77809495], [77811635, 77811701], [77812809, 77812853], [77812981, 77813186]]	[[77809491, 77809495], [77811635, 77811701], [77812809, 77812853], [77812981, 77813050]]
ENST00000495122	[[77808941, 77809319], [77809444, 77809511], [77811635, 77811680]]	[[77809160, 77809319], [77809444, 77809511], [77811635, 77811680]]
ENST00000494546	[[77811544, 77811701], [77812809, 77812853], [77812981, 77813212]]	None
NM_003655	[[77806954, 77809194], [77809444, 77809511], [77811635, 77811701], [77812809, 77812853], [77812981, 77813213]]	[[77807757, 77809194], [77809444, 77809511], [77811635, 77811701], [77812809, 77812853], [77812981, 77813050]]

Promoter

Chrom	Start	End	Description
chr17	77813226	77813249	CAGE_peak_1_at_CBX4_5end
chr17	77813257	77813290	CAGE_peak_2_at_CBX4_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	GH17I079888	79888678	79889599	0.75	[{'connected_gene': 'CBX4', 'score': 11.64}, {'connected_gene': 'CBX2', 'score': 10.93}, {'connected_gene': 'ENGASE', 'score': 5.4}, {'connected_gene': 'GC17M079892', 'score': 0.77}, {'connected_gene': 'ENSG00000262343', 'score': 0.28}]
chr17	GH17I079960	79960684	79961708	0.56	[{'connected_gene': 'CBX4', 'score': 11.52}, {'connected_gene': 'CBX2', 'score': 10.96}, {'connected_gene': 'ENSG00000275516', 'score': 0.44}, {'connected_gene': 'GC17P079977', 'score': 0.37}, {'connected_gene': 'TBC1D16', 'score': 0.19}]
chr17	GH17I079965	79965484	79966408	0.2	[{'connected_gene': 'CBX4', 'score': 11.53}, {'connected_gene': 'CBX2', 'score': 10.96}, {'connected_gene': 'GC17P079977', 'score': 0.39}, {'connected_gene': 'ENSG00000275516', 'score': 0.39}, {'connected_gene': 'TBC1D16', 'score': 0.2}]
chr17	GH17I079874	79874482	79874631	0.56	[{'connected_gene': 'CBX4', 'score': 12.09}, {'connected_gene': 'CBX2', 'score': 11.15}, {'connected_gene': 'GC17M079892', 'score': 0.37}, {'connected_gene': 'ENSG00000262343', 'score': 0.34}]
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	GH17I079954	79954183	79955394	0.46	[{'connected_gene': 'CBX4', 'score': 11.29}, {'connected_gene': 'ENSG00000275516', 'score': 0.77}, {'connected_gene': 'GC17P079977', 'score': 0.34}, {'connected_gene': 'TBC1D16', 'score': 0.18}]
chr17	GH17I079943	79943580	79944803	0.43	[{'connected_gene': 'CBX4', 'score': 11.66}, {'connected_gene': 'PIR49167', 'score': 0.77}, {'connected_gene': 'GC17P079941', 'score': 0.77}, {'connected_gene': 'TBC1D16', 'score': 0.16}]
chr17	GH17I079944	79944813	79946235	0.31	[{'connected_gene': 'CBX4', 'score': 11.66}, {'connected_gene': 'CANT1', 'score': 4.64}, {'connected_gene': 'PIR49167', 'score': 0.77}, {'connected_gene': 'GC17P079941', 'score': 0.77}, {'connected_gene': 'TBC1D16', 'score': 0.16}]
chr17	GH17I079833	79833922	79834071	0.92	[{'connected_gene': 'CBX4', 'score': 0.44}, {'connected_gene': 'LINC01977', 'score': 0.39}]
chr17	GH17I079837	79835322	79835471	0.93	[{'connected_gene': 'CBX4', 'score': 0.77}, {'connected_gene': 'LINC01977', 'score': 0.39}]
chr17	GH17I079836	79835022	79835191	1.05	[{'connected_gene': 'CBX4', 'score': 0.77}, {'connected_gene': 'LINC01977', 'score': 0.39}]
chr17	GH17I079790	79789982	79790131	0.97	[{'connected_gene': 'CBX4', 'score': 11.75}, {'connected_gene': 'GC17P079785', 'score': 0.77}, {'connected_gene': 'ENSG00000262768', 'score': 0.39}]
chr17	GH17I079789	79789451	79789631	0.46	[{'connected_gene': 'CBX4', 'score': 11.75}, {'connected_gene': 'GC17P079785', 'score': 0.77}, {'connected_gene': 'ENSG00000262768', 'score': 0.39}]
chr17	GH17I079745	79745859	79748878	1.31	[{'connected_gene': 'CBX2', 'score': 12.35}, {'connected_gene': 'CBX4', 'score': 11.24}, {'connected_gene': 'ENPP7', 'score': 0.37}]
chr17	GH17I079834	79834622	79834771	0.88	[{'connected_gene': 'USP36', 'score': 15.71}, {'connected_gene': 'CBX4', 'score': 0.77}, {'connected_gene': 'LINC01977', 'score': 0.39}]
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	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	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	GH17I079996	79996188	79998467	1.11	[{'connected_gene': 'CCDC40', 'score': 6.69}, {'connected_gene': 'EIF4A3', 'score': 5.17}, {'connected_gene': 'ENGASE', 'score': 4.77}, {'connected_gene': 'RNF213', 'score': 4.57}, {'connected_gene': 'GAA', 'score': 3.46}, {'connected_gene': 'CBX4', 'score': 2.59}, {'connected_gene': 'SGSH', 'score': 2.54}, {'connected_gene': 'ENSG00000262172', 'score': 0.77}, {'connected_gene': 'PIR41919', 'score': 0.44}, {'connected_gene': 'TBC1D16', 'score': 0.28}]
chr17	GH17I079825	79825722	79825871	0.69	[{'connected_gene': 'LINC01977', 'score': 0.77}, {'connected_gene': 'CBX4', 'score': 0.39}]
chr17	GH17I079828	79828799	79829928	0.89	[{'connected_gene': 'LINC01977', 'score': 0.44}, {'connected_gene': 'CBX4', 'score': 0.39}]
chr17	GH17I079942	79942119	79943491	1.3	[{'connected_gene': 'GC17P079941', 'score': 550.77}, {'connected_gene': 'CBX4', 'score': 11.66}, {'connected_gene': 'SGSH', 'score': 5.04}, {'connected_gene': 'PIR49167', 'score': 0.44}, {'connected_gene': 'TBC1D16', 'score': 0.16}]
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	GH17I079947	79947038	79948095	0.4	[{'connected_gene': 'PIR49167', 'score': 550.77}, {'connected_gene': 'CBX4', 'score': 11.66}, {'connected_gene': 'GC17P079941', 'score': 0.44}, {'connected_gene': 'TBC1D16', 'score': 0.17}]
chr17	GH17I079892	79892562	79892731	0.6	[{'connected_gene': 'GC17M079892', 'score': 550.77}, {'connected_gene': 'CBX4', 'score': 11.83}, {'connected_gene': 'ENSG00000262343', 'score': 0.26}]
chr17	GH17I079948	79948470	79953634	1.62	[{'connected_gene': 'ENSG00000275516', 'score': 550.77}, {'connected_gene': 'TBC1D16', 'score': 550.18}, {'connected_gene': 'LOC100294362', 'score': 14.26}, {'connected_gene': 'ENDOV', 'score': 12.97}, {'connected_gene': 'CBX4', 'score': 11.3}, {'connected_gene': 'CBX2', 'score': 11.27}, {'connected_gene': 'CCDC40', 'score': 10.63}, {'connected_gene': 'PIR49167', 'score': 0.77}, {'connected_gene': 'GC17P079941', 'score': 0.44}]