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
ENST00000361951	[[173793640, 173794494], [173795824, 173795924], [173797470, 173797537], [173799797, 173799899], [173800672, 173800768], [173802513, 173802637], [173803610, 173803657], [173806077, 173806184], [173807327, 173807397], [173808504, 173808684], [173810003, 173810111], [173814366, 173814429], [173819464, 173819617], [173822486, 173822705], [173822932, 173823043], [173825803, 173825879], [173826655, 173827684]]	[[173794367, 173794494], [173795824, 173795924], [173797470, 173797537], [173799797, 173799899], [173800672, 173800768], [173802513, 173802637], [173803610, 173803657], [173806077, 173806184], [173807327, 173807397], [173808504, 173808684], [173810003, 173810111], [173814366, 173814429], [173819464, 173819617], [173822486, 173822705], [173822932, 173823043], [173825803, 173825879], [173826655, 173826843]]
ENST00000239457	[[173793796, 173794494], [173795824, 173795924], [173797470, 173797537], [173799797, 173799899], [173800672, 173800768], [173802513, 173802637], [173803610, 173803657], [173806077, 173806184], [173807327, 173807397], [173808504, 173808684], [173810003, 173810111], [173814366, 173814429], [173819464, 173819617], [173822486, 173822705], [173825803, 173825879], [173826655, 173827682]]	[[173819527, 173819617], [173822486, 173822705], [173825803, 173825879], [173826655, 173826843]]
ENST00000471476	[[173810050, 173810111], [173814366, 173814429], [173819464, 173819617], [173822486, 173822705], [173825803, 173825879], [173826655, 173826976]]	None
ENST00000460076	[[173819507, 173819617], [173820973, 173821156]]	None
NM_018122	[[173793796, 173794494], [173795824, 173795924], [173797470, 173797537], [173799797, 173799899], [173800672, 173800768], [173802513, 173802637], [173803610, 173803657], [173806077, 173806184], [173807327, 173807397], [173808504, 173808684], [173810003, 173810111], [173814366, 173814429], [173819464, 173819617], [173822486, 173822705], [173822932, 173823043], [173825803, 173825879], [173826655, 173827682]]	[[173794367, 173794494], [173795824, 173795924], [173797470, 173797537], [173799797, 173799899], [173800672, 173800768], [173802513, 173802637], [173803610, 173803657], [173806077, 173806184], [173807327, 173807397], [173808504, 173808684], [173810003, 173810111], [173814366, 173814429], [173819464, 173819617], [173822486, 173822705], [173822932, 173823043], [173825803, 173825879], [173826655, 173826843]]

Promoter

Chrom	Start	End	Description
chr1	173793708	173793739	CAGE_peak_2_at_DARS2_5end
chr1	173793764	173793776	CAGE_peak_6_at_DARS2_5end
chr1	173793777	173793829	CAGE_peak_1_at_DARS2_5end
chr1	173793834	173793845	CAGE_peak_4_at_DARS2_5end
chr1	173793955	173793960	CAGE_peak_8_at_DARS2_5end
chr1	173794074	173794093	CAGE_peak_5_at_DARS2_5end
chr1	173794095	173794120	CAGE_peak_3_at_DARS2_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	GH01I173714	173714275	173716601	2.13	[{'connected_gene': 'KLHL20', 'score': 576.97}, {'connected_gene': 'RC3H1', 'score': 23.39}, {'connected_gene': 'DARS2', 'score': 18.06}, {'connected_gene': 'GAS5', 'score': 11.23}, {'connected_gene': 'GAS5-AS1', 'score': 10.16}, {'connected_gene': 'ANKRD45', 'score': 10.13}, {'connected_gene': 'RPS27P7', 'score': 0.31}]
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}]