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
ENST00000356198	[[173768687, 173769657], [173772100, 173772643], [173775576, 173775714], [173776404, 173776656], [173780269, 173780444], [173793063, 173793157], [173793275, 173793460]]	[[173769585, 173769657], [173772100, 173772643], [173775576, 173775714], [173776404, 173776656], [173780269, 173780437]]
ENST00000345664	[[173768987, 173769657], [173772100, 173772643], [173776404, 173776656], [173780269, 173780444], [173793063, 173793270]]	[[173769585, 173769657], [173772100, 173772643], [173776404, 173776656], [173780269, 173780437]]
ENST00000367710	[[173768987, 173769657], [173772100, 173772643], [173776404, 173776656], [173780269, 173780444], [173793063, 173793157], [173793275, 173793312]]	[[173769585, 173769657], [173772100, 173772643], [173776404, 173776656], [173780269, 173780437]]
ENST00000496683	[[173769465, 173769657], [173772100, 173772643], [173775596, 173775714], [173776404, 173776656], [173780269, 173780444], [173793063, 173793269]]	None
ENST00000460816	[[173769549, 173769657], [173776404, 173776656], [173780269, 173780444], [173793063, 173793157], [173793275, 173793473]]	None
ENST00000484920	[[173772100, 173772643], [173776404, 173776448], [173780269, 173780444], [173793063, 173793157]]	None
ENST00000479159	[[173772583, 173772643], [173776404, 173776656], [173780269, 173780444], [173793063, 173793157], [173793699, 173793858]]	None
ENST00000493233	[[173780257, 173780444], [173793063, 173793283]]	None
ENST00000495275	[[173790946, 173793157], [173793349, 173793611]]	None
NM_001171182	[[173768687, 173769657], [173772100, 173772643], [173776404, 173776656], [173780269, 173780444], [173793063, 173793270]]	[[173769585, 173769657], [173772100, 173772643], [173776404, 173776656], [173780269, 173780437]]
NM_001127181	[[173768687, 173769657], [173772100, 173772643], [173775576, 173775714], [173776404, 173776656], [173780269, 173780444], [173793063, 173793157], [173793275, 173793777]]	[[173769585, 173769657], [173772100, 173772643], [173775576, 173775714], [173776404, 173776656], [173780269, 173780437]]
NM_033319	[[173768687, 173769657], [173772100, 173772643], [173776404, 173776656], [173780269, 173780444], [173793063, 173793157], [173793275, 173793777]]	[[173769585, 173769657], [173772100, 173772643], [173776404, 173776656], [173780269, 173780437]]

Promoter

Chrom	Start	End	Description
chr1	173793246	173793306	CAGE_peak_4_at_CENPL_5end
chr1	173793458	173793479	CAGE_peak_5_at_CENPL_5end
chr1	173793480	173793504	CAGE_peak_3_at_CENPL_5end
chr1	173793515	173793551	CAGE_peak_2_at_CENPL_5end
chr1	173793994	173794041	CAGE_peak_1_at_CENPL_5end
chr1	173794042	173794063	CAGE_peak_7_at_CENPL_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I173412	173412000	173416605	1.42	[{'connected_gene': 'CENPL', 'score': 10.89}, {'connected_gene': 'DARS2', 'score': 10.89}, {'connected_gene': 'PRDX6', 'score': 10.25}, {'connected_gene': 'KLHL20', 'score': 9.89}, {'connected_gene': 'ENSG00000224228', 'score': 9.88}, {'connected_gene': 'GC01M173428', 'score': 0.39}, {'connected_gene': 'LOC646870', 'score': 0.23}, {'connected_gene': 'LOC100506023', 'score': 0.21}]
chr1	GH01I173847	173847795	173848131	0.22	[{'connected_gene': 'CENPL', 'score': 11.44}, {'connected_gene': 'DARS2', 'score': 11.44}, {'connected_gene': 'GC01P173858', 'score': 0.39}]
chr1	GH01I173861	173861623	173871896	2.14	[{'connected_gene': 'ZBTB37', 'score': 579.4}, {'connected_gene': 'GC01M174036', 'score': 550.77}, {'connected_gene': 'GC01M174029', 'score': 550.77}, {'connected_gene': 'SNORD80', 'score': 550.77}, {'connected_gene': 'SNORD44', 'score': 550.77}, {'connected_gene': 'GC01M174027', 'score': 550.77}, {'connected_gene': 'SNORD77', 'score': 550.77}, {'connected_gene': 'GC01M174033', 'score': 550.77}, {'connected_gene': 'SNORD74', 'score': 550.77}, {'connected_gene': 'GC01M174030', 'score': 550.77}, {'connected_gene': 'GC01M174035', 'score': 550.77}, {'connected_gene': 'GC01M174026', 'score': 550.77}, {'connected_gene': 'SNORD78', 'score': 550.77}, {'connected_gene': 'SNORD76', 'score': 550.77}, {'connected_gene': 'GC01M174034', 'score': 550.77}, {'connected_gene': 'SNORD75', 'score': 550.77}, {'connected_gene': 'GC01M174031', 'score': 550.77}, {'connected_gene': 'GC01M174038', 'score': 550.77}, {'connected_gene': 'SNORD79', 'score': 550.77}, {'connected_gene': 'RC3H1', 'score': 48.37}, {'connected_gene': 'KLHL20', 'score': 34.98}, {'connected_gene': 'DARS2', 'score': 30.46}, {'connected_gene': 'CENPL', 'score': 21.96}, {'connected_gene': 'GAS5', 'score': 20.32}, {'connected_gene': 'GAS5-AS1', 'score': 18.55}, {'connected_gene': 'ANKRD45', 'score': 13.25}, {'connected_gene': 'SERPINC1', 'score': 11.38}, {'connected_gene': 'RNA5SP67', 'score': 11.38}, {'connected_gene': 'LOC101928673', 'score': 10.81}, {'connected_gene': 'RABGAP1L', 'score': 8.16}, {'connected_gene': 'SNORD47', 'score': 0.77}, {'connected_gene': 'SNORD81', 'score': 0.77}, {'connected_gene': 'GC01M174039', 'score': 0.77}, {'connected_gene': 'GC01M174032', 'score': 0.77}, {'connected_gene': 'GC01M174028', 'score': 0.77}, {'connected_gene': 'GC01M174040', 'score': 0.77}, {'connected_gene': 'GC01P173858', 'score': 0.44}]
chr1	GH01I173852	173852090	173853994	0.66	[{'connected_gene': 'DARS2', 'score': 32.74}, {'connected_gene': 'CENPL', 'score': 11.49}, {'connected_gene': 'GAS5', 'score': 8.03}, {'connected_gene': 'GC01P173858', 'score': 0.44}]
chr1	GH01I173823	173823015	173826053	2.11	[{'connected_gene': 'DARS2', 'score': 577.41}, {'connected_gene': 'CENPL', 'score': 550.77}, {'connected_gene': 'RC3H1', 'score': 26.03}, {'connected_gene': 'KLHL20', 'score': 10.17}, {'connected_gene': 'ZBTB37', 'score': 10.02}, {'connected_gene': 'GAS5', 'score': 7.93}]
chr1	GH01I174019	174018601	174019000	0.43	[{'connected_gene': 'SERPINC1', 'score': 25.17}, {'connected_gene': 'CENPL', 'score': 23.6}, {'connected_gene': 'RABGAP1L', 'score': 19.08}, {'connected_gene': 'RNA5SP67', 'score': 10.77}, {'connected_gene': 'DARS2', 'score': 10.37}, {'connected_gene': 'RC3H1', 'score': 0.77}, {'connected_gene': 'RC3H1-IT1', 'score': 0.77}]
chr1	GH01I173924	173924911	173927275	0.72	[{'connected_gene': 'ANKRD45', 'score': 15.42}, {'connected_gene': 'GAS5', 'score': 15.29}, {'connected_gene': 'SERPINC1', 'score': 14.91}, {'connected_gene': 'ZBTB37', 'score': 11.17}, {'connected_gene': 'SNORD81', 'score': 11.15}, {'connected_gene': 'CENPL', 'score': 10.36}, {'connected_gene': 'DARS2', 'score': 10.36}, {'connected_gene': 'KLHL20', 'score': 9.42}, {'connected_gene': 'RNA5SP67', 'score': 0.44}, {'connected_gene': 'GC01M174041', 'score': 0.39}]
chr1	GH01I173409	173409084	173411714	1.47	[{'connected_gene': 'KLHL20', 'score': 11.15}, {'connected_gene': 'CENPL', 'score': 10.62}, {'connected_gene': 'DARS2', 'score': 10.62}, {'connected_gene': 'PRDX6', 'score': 10.25}, {'connected_gene': 'ENSG00000224228', 'score': 9.88}, {'connected_gene': 'TNFSF4', 'score': 2.17}, {'connected_gene': 'GC01M173428', 'score': 0.37}, {'connected_gene': 'LOC646870', 'score': 0.25}, {'connected_gene': 'LOC100506023', 'score': 0.2}]
chr1	GH01I173417	173417272	173418983	0.92	[{'connected_gene': 'PRDX6', 'score': 15.08}, {'connected_gene': 'CENPL', 'score': 11.19}, {'connected_gene': 'DARS2', 'score': 11.19}, {'connected_gene': 'GC01M173428', 'score': 0.39}, {'connected_gene': 'LOC101928673', 'score': 0.26}, {'connected_gene': 'LOC646870', 'score': 0.23}, {'connected_gene': 'LOC100506023', 'score': 0.22}]
chr1	GH01I173420	173420139	173421071	1.25	[{'connected_gene': 'PRDX6', 'score': 21.41}, {'connected_gene': 'RC3H1', 'score': 15.38}, {'connected_gene': 'CENPL', 'score': 11.54}, {'connected_gene': 'DARS2', 'score': 11.54}, {'connected_gene': 'LOC101928673', 'score': 11.03}, {'connected_gene': 'KLHL20', 'score': 10.06}, {'connected_gene': 'GC01M173428', 'score': 0.44}, {'connected_gene': 'LOC100506023', 'score': 0.22}, {'connected_gene': 'LOC646870', 'score': 0.22}]
chr1	GH01I173473	173473273	173480369	2.37	[{'connected_gene': 'PRDX6', 'score': 564.85}, {'connected_gene': 'LOC100506023', 'score': 550.77}, {'connected_gene': 'KLHL20', 'score': 34.56}, {'connected_gene': 'GAS5', 'score': 22.09}, {'connected_gene': 'GAS5-AS1', 'score': 20.87}, {'connected_gene': 'CENPL', 'score': 9.74}, {'connected_gene': 'DARS2', 'score': 9.74}, {'connected_gene': 'LOC101928673', 'score': 0.37}]
chr1	GH01I174018	174018001	174018400	0.46	[{'connected_gene': 'RC3H1-IT1', 'score': 550.77}, {'connected_gene': 'SERPINC1', 'score': 25.19}, {'connected_gene': 'CENPL', 'score': 23.6}, {'connected_gene': 'DARS2', 'score': 14.78}, {'connected_gene': 'RNA5SP67', 'score': 10.77}, {'connected_gene': 'RC3H1', 'score': 0.77}]
chr1	GH01I174017	174017401	174017600	0.52	[{'connected_gene': 'RC3H1-IT1', 'score': 550.77}, {'connected_gene': 'RNA5SP67', 'score': 10.77}, {'connected_gene': 'SERPINC1', 'score': 10.77}, {'connected_gene': 'CENPL', 'score': 10.37}, {'connected_gene': 'DARS2', 'score': 10.37}, {'connected_gene': 'RC3H1', 'score': 0.77}]