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
ENST00000367590	[[180601139, 180601406], [180651495, 180651547], [180756888, 180756990], [180772523, 180772747], [180775197, 180775347], [180775609, 180775693], [180780542, 180780624], [180793888, 180794079], [180794300, 180794480], [180804009, 180804181], [180805657, 180805852], [180832843, 180833010], [180842938, 180843078], [180849211, 180849433], [180853141, 180859387]]	[[180601337, 180601406], [180651495, 180651547], [180756888, 180756990], [180772523, 180772747], [180775197, 180775347], [180775609, 180775693], [180780542, 180780624], [180793888, 180794079], [180794300, 180794480], [180804009, 180804181], [180805657, 180805852], [180832843, 180833010], [180842938, 180843078], [180849211, 180849433], [180853141, 180853202]]
ENST00000367589	[[180601167, 180601406], [180651495, 180651547], [180756888, 180756990], [180772523, 180772747], [180775197, 180775347], [180775609, 180775693], [180780542, 180780624], [180793888, 180794079], [180794300, 180794480], [180804009, 180804181], [180832843, 180833010], [180842938, 180843078], [180849211, 180849433], [180853141, 180855262]]	[[180601337, 180601406], [180651495, 180651547], [180756888, 180756990], [180772523, 180772747], [180775197, 180775347], [180775609, 180775693], [180780542, 180780624], [180793888, 180794079], [180794300, 180794480], [180804009, 180804181], [180832843, 180833010], [180842938, 180843078], [180849211, 180849433], [180853141, 180853202]]
ENST00000498177	[[180805787, 180805852], [180832843, 180833010], [180842938, 180843191]]	None
ENST00000464817	[[180832899, 180833010], [180842938, 180843078], [180847110, 180847426]]	None
ENST00000467345	[[180856707, 180857047], [180857188, 180857584]]	None
NM_001328662	[[180601145, 180601406], [180651495, 180651547], [180756888, 180756990], [180772523, 180772747], [180775197, 180775347], [180775609, 180775693], [180780542, 180780624], [180793888, 180794079], [180794300, 180794480], [180804009, 180804181], [180805657, 180808004]]	[[180601337, 180601406], [180651495, 180651547], [180756888, 180756990], [180772523, 180772747], [180775197, 180775347], [180775609, 180775693], [180780542, 180780624], [180793888, 180794079], [180794300, 180794480], [180804009, 180804181], [180805657, 180805863]]
NR_137330	[[180601145, 180601406], [180651495, 180651547], [180756888, 180756990], [180772523, 180772747], [180775197, 180775347], [180775609, 180775693], [180780542, 180780624], [180793888, 180794079], [180794300, 180794480], [180832843, 180833010], [180842938, 180843078], [180849211, 180849433], [180853141, 180859415]]	None
NM_001135669	[[180601145, 180601406], [180651495, 180651547], [180756888, 180756990], [180772523, 180772747], [180775197, 180775347], [180775609, 180775693], [180780542, 180780624], [180793888, 180794079], [180794300, 180794480], [180804009, 180804181], [180832843, 180833010], [180842938, 180843078], [180849211, 180849433], [180853141, 180859415]]	[[180601337, 180601406], [180651495, 180651547], [180756888, 180756990], [180772523, 180772747], [180775197, 180775347], [180775609, 180775693], [180780542, 180780624], [180793888, 180794079], [180794300, 180794480], [180804009, 180804181], [180832843, 180833010], [180842938, 180843078], [180849211, 180849433], [180853141, 180853202]]
NM_004736	[[180601145, 180601406], [180651495, 180651547], [180756888, 180756990], [180772523, 180772747], [180775197, 180775347], [180775609, 180775693], [180780542, 180780624], [180793888, 180794079], [180794300, 180794480], [180804009, 180804181], [180805657, 180805852], [180832843, 180833010], [180842938, 180843078], [180849211, 180849433], [180853141, 180859415]]	[[180601337, 180601406], [180651495, 180651547], [180756888, 180756990], [180772523, 180772747], [180775197, 180775347], [180775609, 180775693], [180780542, 180780624], [180793888, 180794079], [180794300, 180794480], [180804009, 180804181], [180805657, 180805852], [180832843, 180833010], [180842938, 180843078], [180849211, 180849433], [180853141, 180853202]]

Promoter

Chrom	Start	End	Description
chr1	180601139	180601180	CAGE_peak_1_at_XPR1_5end
chr1	180601188	180601207	CAGE_peak_2_at_XPR1_5end
chr1	180601215	180601233	CAGE_peak_4_at_XPR1_5end
chr1	180601251	180601278	CAGE_peak_3_at_XPR1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I180631	180631186	180633634	2.04	[{'connected_gene': 'XPR1', 'score': 550.77}, {'connected_gene': 'CEP350', 'score': 11.39}, {'connected_gene': 'LHX4', 'score': 10.53}, {'connected_gene': 'GC01P180759', 'score': 0.13}]
chr1	GH01I180570	180570745	180572759	1	[{'connected_gene': 'XPR1', 'score': 11.02}, {'connected_gene': 'LHX4', 'score': 7.25}, {'connected_gene': 'OVAAL', 'score': 0.39}]
chr1	GH01I180562	180562371	180563857	1.1	[{'connected_gene': 'XPR1', 'score': 11.63}, {'connected_gene': 'ACBD6', 'score': 10.03}, {'connected_gene': 'LHX4', 'score': 4.49}, {'connected_gene': 'OVAAL', 'score': 0.77}]
chr1	GH01I180579	180579594	180581099	0.72	[{'connected_gene': 'XPR1', 'score': 11.74}, {'connected_gene': 'ACBD6', 'score': 9.67}, {'connected_gene': 'LHX4', 'score': 6.76}, {'connected_gene': 'OVAAL', 'score': 0.34}]
chr1	GH01I180542	180542201	180543001	0.54	[{'connected_gene': 'XPR1', 'score': 10.68}, {'connected_gene': 'ACBD6', 'score': 10.38}, {'connected_gene': 'LHX4', 'score': 5.44}, {'connected_gene': 'GC01P180539', 'score': 0.77}, {'connected_gene': 'OVAAL', 'score': 0.37}]
chr1	GH01I180521	180521165	180523682	1.08	[{'connected_gene': 'XPR1', 'score': 11.15}, {'connected_gene': 'ACBD6', 'score': 10.28}, {'connected_gene': 'GC01M180738', 'score': 0.77}, {'connected_gene': 'ENSG00000206905', 'score': 0.77}, {'connected_gene': 'GC01P180535', 'score': 0.39}]
chr1	GH01I180615	180615625	180615794	0.2	[{'connected_gene': 'XPR1', 'score': 0.37}, {'connected_gene': 'OVAAL', 'score': 0.22}]
chr1	GH01I180593	180593407	180593560	0.22	[{'connected_gene': 'XPR1', 'score': 11.49}, {'connected_gene': 'OVAAL', 'score': 0.29}]
chr1	GH01I180614	180614499	180615248	0.38	[{'connected_gene': 'XPR1', 'score': 0.37}, {'connected_gene': 'OVAAL', 'score': 0.22}]
chr1	GH01I180616	180616025	180616666	0.2	[{'connected_gene': 'XPR1', 'score': 0.37}, {'connected_gene': 'OVAAL', 'score': 0.22}]
chr1	GH01I180598	180598251	180599361	0.59	[{'connected_gene': 'XPR1', 'score': 12.01}, {'connected_gene': 'OVAAL', 'score': 0.28}]
chr1	GH01I180854	180854152	180855174	0.81	[{'connected_gene': 'XPR1', 'score': 10.4}, {'connected_gene': 'GC01M180874', 'score': 0.37}, {'connected_gene': 'ENSG00000283575', 'score': 0.15}]
chr1	GH01I180918	180918959	180919604	0.38	[{'connected_gene': 'LHX4', 'score': 13.31}, {'connected_gene': 'ENSG00000243155', 'score': 11.09}, {'connected_gene': 'XPR1', 'score': 10.27}, {'connected_gene': 'MR1', 'score': 10.12}, {'connected_gene': 'IER5', 'score': 10.05}, {'connected_gene': 'KIAA1614', 'score': 0.44}, {'connected_gene': 'GC01P180946', 'score': 0.31}]
chr1	GH01I180515	180515270	180516926	1.08	[{'connected_gene': 'LHX4', 'score': 10.55}, {'connected_gene': 'XPR1', 'score': 10.49}, {'connected_gene': 'ENSG00000243155', 'score': 9.89}, {'connected_gene': 'LOC105371638', 'score': 9.66}, {'connected_gene': 'KIAA1614', 'score': 9.66}, {'connected_gene': 'ACBD6', 'score': 9.43}, {'connected_gene': 'GC01M180738', 'score': 0.77}, {'connected_gene': 'ENSG00000206905', 'score': 0.77}]
chr1	GH01I180573	180573909	180575204	0.68	[{'connected_gene': 'LHX4', 'score': 6.41}, {'connected_gene': 'OVAAL', 'score': 0.37}, {'connected_gene': 'XPR1', 'score': 0.22}]
chr1	GH01I180841	180841836	180842813	0.43	[{'connected_gene': 'ACBD6', 'score': 10.13}, {'connected_gene': 'GC01M180874', 'score': 0.29}, {'connected_gene': 'ENSG00000283575', 'score': 0.18}, {'connected_gene': 'XPR1', 'score': 0.08}]
chr1	GH01I180842	180842926	180843197	0.31	[{'connected_gene': 'ACBD6', 'score': 10.12}, {'connected_gene': 'GC01M180874', 'score': 0.29}, {'connected_gene': 'ENSG00000283575', 'score': 0.18}, {'connected_gene': 'XPR1', 'score': 0.08}]
chr1	GH01I180584	180584794	180587494	1.47	[{'connected_gene': 'ACBD6', 'score': 18.55}, {'connected_gene': 'LHX4', 'score': 17.42}, {'connected_gene': 'XPR1', 'score': 11.76}, {'connected_gene': 'CEP350', 'score': 10.13}, {'connected_gene': 'MR1', 'score': 2.04}, {'connected_gene': 'OVAAL', 'score': 0.31}]
chr1	GH01I180560	180560929	180561748	0.43	[{'connected_gene': 'ACBD6', 'score': 10.28}, {'connected_gene': 'OVAAL', 'score': 0.77}, {'connected_gene': 'XPR1', 'score': 0.19}]
chr1	GH01I180609	180609639	180612807	1.44	[{'connected_gene': 'KIAA1614', 'score': 4.82}, {'connected_gene': 'IER5', 'score': 2.26}, {'connected_gene': 'XPR1', 'score': 0.34}, {'connected_gene': 'OVAAL', 'score': 0.23}]
chr1	GH01I181098	181098881	181107032	1.83	[{'connected_gene': 'MR1', 'score': 11.31}, {'connected_gene': 'LHX4', 'score': 9.84}, {'connected_gene': 'IER5', 'score': 2.64}, {'connected_gene': 'XPR1', 'score': 1.29}, {'connected_gene': 'GC01M181116', 'score': 0.39}, {'connected_gene': 'GC01M181092', 'score': 0.39}]
chr1	GH01I180575	180575465	180575501	0.2	[{'connected_gene': 'OVAAL', 'score': 0.37}, {'connected_gene': 'XPR1', 'score': 0.22}]
chr1	GH01I180881	180881801	180882400	1.06	[{'connected_gene': 'LOC105371638', 'score': 12.29}, {'connected_gene': 'KIAA1614', 'score': 12.24}, {'connected_gene': 'ENSG00000243155', 'score': 11.13}, {'connected_gene': 'IER5', 'score': 11.05}, {'connected_gene': 'MR1', 'score': 10.09}, {'connected_gene': 'GC01M180874', 'score': 0.44}, {'connected_gene': 'XPR1', 'score': 0.07}]
chr1	GH01I180858	180858001	180858400	0.2	[{'connected_gene': 'GC01M180874', 'score': 0.37}, {'connected_gene': 'ENSG00000283575', 'score': 0.15}, {'connected_gene': 'XPR1', 'score': 0.07}]
chr1	GH01I180836	180836555	180837651	0.49	[{'connected_gene': 'GC01M180874', 'score': 0.28}, {'connected_gene': 'ENSG00000283575', 'score': 0.18}, {'connected_gene': 'XPR1', 'score': 0.08}]
chr1	GH01I180863	180863201	180863600	0.85	[{'connected_gene': 'ENSG00000243155', 'score': 10.02}, {'connected_gene': 'GC01M180874', 'score': 0.39}, {'connected_gene': 'ENSG00000283575', 'score': 0.15}, {'connected_gene': 'XPR1', 'score': 0.07}]
chr1	GH01I180921	180921967	180924511	1.16	[{'connected_gene': 'ENSG00000243155', 'score': 11.1}, {'connected_gene': 'LHX4', 'score': 10.68}, {'connected_gene': 'XPR1', 'score': 10.27}, {'connected_gene': 'MR1', 'score': 10.12}, {'connected_gene': 'IER5', 'score': 10.05}, {'connected_gene': 'KIAA1614', 'score': 9.29}, {'connected_gene': 'GC01P180946', 'score': 0.34}]
chr1	GH01I180540	180540446	180541360	0.38	[{'connected_gene': 'GC01P180539', 'score': 550.77}, {'connected_gene': 'ACBD6', 'score': 15.42}, {'connected_gene': 'XPR1', 'score': 10.81}, {'connected_gene': 'LHX4', 'score': 5.87}, {'connected_gene': 'OVAAL', 'score': 0.37}]
chr1	GH01I180519	180519668	180520634	0.49	[{'connected_gene': 'GC01M180738', 'score': 550.77}, {'connected_gene': 'ENSG00000206905', 'score': 550.77}, {'connected_gene': 'ACBD6', 'score': 17.51}, {'connected_gene': 'XPR1', 'score': 10.85}, {'connected_gene': 'GC01P180535', 'score': 0.39}]