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
ENST00000310942	[[77751930, 77752106], [77752182, 77752226], [77753160, 77753226], [77755494, 77755600], [77757530, 77761782]]	[[77752034, 77752106], [77752182, 77752226], [77753160, 77753226], [77755494, 77755600], [77757530, 77758841]]
ENST00000571484	[[77751961, 77752106], [77752182, 77752226], [77753160, 77753538]]	None
ENST00000269399	[[77751992, 77752106], [77752182, 77752226], [77753160, 77753226], [77755494, 77756331]]	[[77752034, 77752106], [77752182, 77752226], [77753160, 77753226], [77755494, 77755948]]
NM_032647	[[77751976, 77752106], [77752182, 77752226], [77753160, 77753226], [77755494, 77756331]]	[[77752034, 77752106], [77752182, 77752226], [77753160, 77753226], [77755494, 77755948]]
NM_005189	[[77751976, 77752106], [77752182, 77752226], [77753160, 77753226], [77755494, 77755600], [77757530, 77761449]]	[[77752034, 77752106], [77752182, 77752226], [77753160, 77753226], [77755494, 77755600], [77757530, 77758841]]

Promoter

Chrom	Start	End	Description
chr17	77751933	77752014	CAGE_peak_1_at_CBX2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
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	GH17I080068	80068338	80072096	1.13	[{'connected_gene': 'EIF4A3', 'score': 26.37}, {'connected_gene': 'GAA', 'score': 25.87}, {'connected_gene': 'CCDC40', 'score': 20.41}, {'connected_gene': 'TBC1D16', 'score': 12.58}, {'connected_gene': 'CBX2', 'score': 9.87}, {'connected_gene': 'MIR1268B', 'score': 0.31}, {'connected_gene': 'GC17P080040', 'score': 0.31}]
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	GH17I079745	79745859	79748878	1.31	[{'connected_gene': 'CBX2', 'score': 12.35}, {'connected_gene': 'CBX4', 'score': 11.24}, {'connected_gene': 'ENPP7', 'score': 0.37}]
chr17	GH17I079982	79981021	79981812	0.2	[{'connected_gene': 'CBX2', 'score': 11.96}, {'connected_gene': 'GC17P079977', 'score': 0.77}, {'connected_gene': 'ENSG00000262172', 'score': 0.39}, {'connected_gene': 'TBC1D16', 'score': 0.23}]
chr17	GH17I079979	79979845	79980160	0.31	[{'connected_gene': 'CBX2', 'score': 11.96}, {'connected_gene': 'GC17P079977', 'score': 0.77}, {'connected_gene': 'ENSG00000262172', 'score': 0.39}, {'connected_gene': 'TBC1D16', 'score': 0.22}]
chr17	GH17I079981	79981838	79982571	0.4	[{'connected_gene': 'CBX2', 'score': 11.95}, {'connected_gene': 'GC17P079977', 'score': 0.44}, {'connected_gene': 'ENSG00000262172', 'score': 0.39}, {'connected_gene': 'TBC1D16', 'score': 0.23}]
chr17	GH17I079665	79665040	79665749	0.57	[{'connected_gene': 'CBX2', 'score': 9.23}, {'connected_gene': 'LOC101929831', 'score': 0.44}, {'connected_gene': 'MIR4739', 'score': 0.26}]
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	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	GH17I079746	79745702	79745851	0.76	[{'connected_gene': 'ENPP7', 'score': 0.39}, {'connected_gene': 'CBX2', 'score': 0.29}]
chr17	GH17I079739	79739068	79745031	1.38	[{'connected_gene': 'ENPP7', 'score': 8.33}, {'connected_gene': 'CBX2', 'score': 0.28}]
chr17	GH17I079730	79730134	79734006	1.8	[{'connected_gene': 'ENPP7', 'score': 565.79}, {'connected_gene': 'GC17P079727', 'score': 0.77}, {'connected_gene': 'CBX2', 'score': 0.25}]
chr17	GH17I079737	79737294	79738479	0.57	[{'connected_gene': 'ENPP7', 'score': 0.44}, {'connected_gene': 'CBX2', 'score': 0.28}]
chr17	GH17I079923	79923139	79934231	1.62	[{'connected_gene': 'LINC01979', 'score': 557.95}, {'connected_gene': 'TBC1D16', 'score': 8.46}, {'connected_gene': 'CBX2', 'score': 4.68}, {'connected_gene': 'GC17M079934', 'score': 0.44}, {'connected_gene': 'PIR34246', 'score': 0.44}, {'connected_gene': 'LINC01978', 'score': 0.44}]
chr17	GH17I079776	79776353	79779584	2.04	[{'connected_gene': 'GC17M079773', 'score': 550.77}, {'connected_gene': 'CBX2', 'score': 550.77}, {'connected_gene': 'USP36', 'score': 19.6}, {'connected_gene': 'GC17P079785', 'score': 0.44}]
chr17	GH17I079977	79977317	79979379	0.69	[{'connected_gene': 'GC17P079977', 'score': 550.77}, {'connected_gene': 'CBX2', 'score': 11.96}, {'connected_gene': 'ENSG00000262172', 'score': 0.39}, {'connected_gene': 'TBC1D16', 'score': 0.22}]
chr17	GH17I079786	79786788	79787311	0.57	[{'connected_gene': 'GC17P079785', 'score': 550.77}, {'connected_gene': 'CBX2', 'score': 0.44}, {'connected_gene': 'ENSG00000262768', 'score': 0.39}]
chr17	GH17I079779	79779702	79779871	0.6	[{'connected_gene': 'GC17M079773', 'score': 550.77}, {'connected_gene': 'CBX2', 'score': 0.77}, {'connected_gene': 'GC17P079785', 'score': 0.44}]
chr17	GH17I079782	79782001	79782200	0.2	[{'connected_gene': 'GC17M079773', 'score': 0.77}, {'connected_gene': 'CBX2', 'score': 0.77}, {'connected_gene': 'GC17P079785', 'score': 0.77}]
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}]