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
ENST00000367872	[[166958345, 166958721], [166958973, 166959066], [166960614, 166960714], [166961922, 166962078], [166963264, 166963306], [166973416, 166973541], [166974312, 166974367], [166974492, 166974634], [166985458, 166985521], [166987063, 166987196], [166990321, 166990397], [166990904, 166991451]]	[[166958589, 166958721], [166958973, 166959066], [166960614, 166960714], [166961922, 166962078], [166963264, 166963306], [166973416, 166973541], [166974312, 166974367], [166974492, 166974634], [166985458, 166985521], [166987063, 166987196], [166990321, 166990397], [166990904, 166991092]]
ENST00000367870	[[166958497, 166958721], [166960614, 166960714], [166961922, 166962078], [166963264, 166963306], [166973416, 166973541], [166974312, 166974367], [166974492, 166974634], [166985458, 166985521], [166987063, 166987196], [166990321, 166990397], [166990904, 166991414]]	[[166958589, 166958721], [166960614, 166960714], [166961922, 166962078], [166963264, 166963306], [166973416, 166973541], [166974312, 166974367], [166974492, 166974634], [166985458, 166985521], [166987063, 166987196], [166990321, 166990397], [166990904, 166991092]]
ENST00000447624	[[166958524, 166958721], [166960614, 166960714], [166961922, 166962078], [166963264, 166963306], [166973416, 166973541], [166974312, 166974367], [166974492, 166974634], [166985458, 166985521], [166987063, 166987196]]	[[166958589, 166958721], [166960614, 166960714], [166961922, 166962078], [166963264, 166963306], [166973416, 166973541], [166974312, 166974367], [166974492, 166974634], [166985458, 166985521], [166987063, 166987196]]
ENST00000491055	[[166959161, 166959934], [166960614, 166960714], [166961922, 166962078], [166963264, 166963306], [166973416, 166973541], [166974312, 166974367], [166974492, 166974634], [166981605, 166981748], [166985458, 166985521], [166987063, 166987196], [166990321, 166990397], [166990904, 166991451]]	None
ENST00000487826	[[166974312, 166974367], [166974492, 166974853]]	None
NM_001286378	[[166944818, 166944903], [166958637, 166958721], [166958973, 166959066], [166960614, 166960714], [166961922, 166962078], [166963264, 166963306], [166973416, 166973541], [166974312, 166974367], [166974492, 166974634], [166985458, 166985521], [166987063, 166987196], [166990321, 166990397], [166990904, 166991451]]	[[166959009, 166959066], [166960614, 166960714], [166961922, 166962078], [166963264, 166963306], [166973416, 166973541], [166974312, 166974367], [166974492, 166974634], [166985458, 166985521], [166987063, 166987196], [166990321, 166990397], [166990904, 166991092]]
NM_001286377	[[166958325, 166958721], [166960614, 166960714], [166961922, 166962078], [166963264, 166963306], [166973416, 166973541], [166974312, 166974367], [166974492, 166974634], [166985458, 166985521], [166987063, 166987196], [166990321, 166990397], [166990904, 166991451]]	[[166958589, 166958721], [166960614, 166960714], [166961922, 166962078], [166963264, 166963306], [166973416, 166973541], [166974312, 166974367], [166974492, 166974634], [166985458, 166985521], [166987063, 166987196], [166990321, 166990397], [166990904, 166991092]]
NM_032858	[[166958325, 166958721], [166958973, 166959066], [166960614, 166960714], [166961922, 166962078], [166963264, 166963306], [166973416, 166973541], [166974312, 166974367], [166974492, 166974634], [166985458, 166985521], [166987063, 166987196], [166990321, 166990397], [166990904, 166991451]]	[[166958589, 166958721], [166958973, 166959066], [166960614, 166960714], [166961922, 166962078], [166963264, 166963306], [166973416, 166973541], [166974312, 166974367], [166974492, 166974634], [166985458, 166985521], [166987063, 166987196], [166990321, 166990397], [166990904, 166991092]]

Promoter

Chrom	Start	End	Description
chr1	166958364	166958375	CAGE_peak_3_at_MAEL_5end
chr1	166958377	166958384	CAGE_peak_5_at_MAEL_5end
chr1	166958492	166958495	CAGE_peak_7_at_MAEL_5end
chr1	166958497	166958501	CAGE_peak_6_at_MAEL_5end
chr1	166958504	166958525	CAGE_peak_1_at_MAEL_5end
chr1	166958538	166958552	CAGE_peak_2_at_MAEL_5end
chr1	166958805	166958814	CAGE_peak_11_at_MAEL_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I166975	166975000	166976201	1.87	[{'connected_gene': 'MAEL', 'score': 585.99}, {'connected_gene': 'ILDR2', 'score': 550.39}, {'connected_gene': 'POU2F1', 'score': 11.02}, {'connected_gene': 'GC01P166981', 'score': 0.44}, {'connected_gene': 'GC01P166768', 'score': 0.08}]
chr1	GH01I166985	166985132	166985236	0.38	[{'connected_gene': 'MAEL', 'score': 18.48}, {'connected_gene': 'ILDR2', 'score': 2.45}, {'connected_gene': 'GC01P166981', 'score': 0.77}, {'connected_gene': 'GC01P166768', 'score': 0.08}]
chr1	GH01I166904	166904440	166907530	0.59	[{'connected_gene': 'MAEL', 'score': 23.96}, {'connected_gene': 'TADA1', 'score': 11.76}, {'connected_gene': 'LOC105371600', 'score': 11.42}, {'connected_gene': 'DUSP27', 'score': 10.36}, {'connected_gene': 'GPA33', 'score': 10.34}, {'connected_gene': 'ILDR2', 'score': 5.37}, {'connected_gene': 'GC01M166909', 'score': 0.37}, {'connected_gene': 'GC01P166768', 'score': 0.12}]
chr1	GH01I167016	167016401	167016600	0.38	[{'connected_gene': 'MAEL', 'score': 11.55}, {'connected_gene': 'LOC105371600', 'score': 11.26}, {'connected_gene': 'DUSP27', 'score': 9.94}, {'connected_gene': 'GPA33', 'score': 9.87}, {'connected_gene': 'RNA5SP65', 'score': 0.39}, {'connected_gene': 'GC01P166768', 'score': 0.07}]
chr1	GH01I167019	167019783	167020122	0.26	[{'connected_gene': 'MAEL', 'score': 18.21}, {'connected_gene': 'LOC105371600', 'score': 11.26}, {'connected_gene': 'DUSP27', 'score': 9.95}, {'connected_gene': 'GPA33', 'score': 9.87}, {'connected_gene': 'RNA5SP65', 'score': 0.39}, {'connected_gene': 'GC01P166768', 'score': 0.07}]
chr1	GH01I167043	167043601	167044813	1.07	[{'connected_gene': 'MAEL', 'score': 5.45}, {'connected_gene': 'LOC105371600', 'score': 0.44}, {'connected_gene': 'RNA5SP65', 'score': 0.28}]
chr1	GH01I167344	167344069	167344237	0.23	[{'connected_gene': 'POU2F1', 'score': 1.91}, {'connected_gene': 'MAEL', 'score': 1.25}, {'connected_gene': 'GC01P167371', 'score': 0.31}]
chr1	GH01I166989	166989232	166989291	0.86	[{'connected_gene': 'ILDR2', 'score': 550.77}, {'connected_gene': 'MAEL', 'score': 550.39}, {'connected_gene': 'GC01P166993', 'score': 0.77}, {'connected_gene': 'GC01P166768', 'score': 0.07}]
chr1	GH01I166944	166944144	166945145	0.58	[{'connected_gene': 'ILDR2', 'score': 5.29}, {'connected_gene': 'GC01M166909', 'score': 0.34}, {'connected_gene': 'MAEL', 'score': 0.29}, {'connected_gene': 'GC01P166768', 'score': 0.1}]
chr1	GH01I166874	166874604	166877001	2.1	[{'connected_gene': 'TADA1', 'score': 561.75}, {'connected_gene': 'MAEL', 'score': 23.17}, {'connected_gene': 'LOC284685', 'score': 17.9}, {'connected_gene': 'MPZL1', 'score': 10.22}, {'connected_gene': 'ILDR2', 'score': 6.14}, {'connected_gene': 'DUTP6', 'score': 0.44}, {'connected_gene': 'GC01P166768', 'score': 0.14}]
chr1	GH01I166947	166947066	166948382	0.82	[{'connected_gene': 'LOC105371600', 'score': 10.42}, {'connected_gene': 'MAEL', 'score': 0.31}, {'connected_gene': 'GC01M166909', 'score': 0.31}, {'connected_gene': 'ILDR2', 'score': 0.26}, {'connected_gene': 'GC01P166768', 'score': 0.1}]
chr1	GH01I166949	166949683	166951086	0.43	[{'connected_gene': 'LOC105371600', 'score': 10.7}, {'connected_gene': 'GPA33', 'score': 9.14}, {'connected_gene': 'MAEL', 'score': 4.55}, {'connected_gene': 'GC01M166909', 'score': 0.31}, {'connected_gene': 'ILDR2', 'score': 0.28}, {'connected_gene': 'GC01P166768', 'score': 0.09}]
chr1	GH01I166952	166952524	166952673	0.54	[{'connected_gene': 'LOC105371600', 'score': 10.71}, {'connected_gene': 'GPA33', 'score': 9.14}, {'connected_gene': 'MAEL', 'score': 0.34}, {'connected_gene': 'GC01M166909', 'score': 0.29}, {'connected_gene': 'ILDR2', 'score': 0.28}, {'connected_gene': 'GC01P166768', 'score': 0.09}]
chr1	GH01I166925	166925024	166927027	0.76	[{'connected_gene': 'LOC105371600', 'score': 11.07}, {'connected_gene': 'GPA33', 'score': 9.7}, {'connected_gene': 'DUTP6', 'score': 6.36}, {'connected_gene': 'ILDR2', 'score': 2.34}, {'connected_gene': 'GC01M166909', 'score': 0.77}, {'connected_gene': 'MAEL', 'score': 0.25}, {'connected_gene': 'GC01P166768', 'score': 0.1}]
chr1	GH01I167066	167066485	167067200	1.2	[{'connected_gene': 'GPA33', 'score': 18.62}, {'connected_gene': 'DUSP27', 'score': 12.1}, {'connected_gene': 'POU2F1', 'score': 11.41}, {'connected_gene': 'ILDR2', 'score': 5.61}, {'connected_gene': 'MAEL', 'score': 4.93}, {'connected_gene': 'LOC105371600', 'score': 0.37}, {'connected_gene': 'LOC105371598', 'score': 0.34}]
chr1	GH01I167104	167104001	167106041	0.99	[{'connected_gene': 'LINC01363', 'score': 10.69}, {'connected_gene': 'LOC284685', 'score': 9.96}, {'connected_gene': 'DUSP27', 'score': 6.25}, {'connected_gene': 'GPA33', 'score': 5.85}, {'connected_gene': 'MAEL', 'score': 5.42}, {'connected_gene': 'GC01P167158', 'score': 0.23}]
chr1	GH01I167103	167103114	167103878	0.69	[{'connected_gene': 'LINC01363', 'score': 10.69}, {'connected_gene': 'GPA33', 'score': 5.97}, {'connected_gene': 'MAEL', 'score': 5.54}, {'connected_gene': 'DUSP27', 'score': 0.44}, {'connected_gene': 'GC01P167158', 'score': 0.23}]