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
ENST00000291481	[[19366449, 19369017], [19369331, 19369664], [19371621, 19371984], [19372254, 19372372], [19373538, 19373605]]	[[19368625, 19369017], [19369331, 19369664], [19371621, 19371984], [19372254, 19372372], [19373538, 19373541]]
ENST00000592862	[[19369654, 19369664], [19371621, 19371984], [19372254, 19372492]]	None
NM_023002	[[19366449, 19369017], [19369331, 19369664], [19371621, 19371984], [19372254, 19372372], [19373538, 19373596]]	[[19368625, 19369017], [19369331, 19369664], [19371621, 19371984], [19372254, 19372372], [19373538, 19373541]]

Promoter

Chrom	Start	End	Description
chr19	19367894	19367904	CAGE_peak_8_at_HAPLN4_5end
chr19	19373580	19373591	CAGE_peak_4_at_HAPLN4_5end
chr19	19373601	19373619	CAGE_peak_2_at_HAPLN4_5end
chr19	19373625	19373636	CAGE_peak_5_at_HAPLN4_5end
chr19	19384028	19384041	CAGE_peak_3_at_TM6SF2_5end,CAGE_peak_6_at_HAPLN4_5end
chr19	19384045	19384052	CAGE_peak_12_at_HAPLN4_5end,CAGE_peak_4_at_TM6SF2_5end
chr19	19384055	19384121	CAGE_peak_1_at_HAPLN4_5end,CAGE_peak_1_at_TM6SF2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I019066	19066792	19068210	0.31	[{'connected_gene': 'TMEM161A', 'score': 21.15}, {'connected_gene': 'HAPLN4', 'score': 10.19}, {'connected_gene': 'SUGP2', 'score': 4.59}, {'connected_gene': 'SLC25A42', 'score': 0.77}, {'connected_gene': 'GC19P020250', 'score': 0.26}]
chr19	GH19I019112	19112875	19113541	0.77	[{'connected_gene': 'TMEM161A', 'score': 22.46}, {'connected_gene': 'SLC25A42', 'score': 12.43}, {'connected_gene': 'SUGP2', 'score': 12.03}, {'connected_gene': 'ARMC6', 'score': 12.03}, {'connected_gene': 'MEF2B', 'score': 11.82}, {'connected_gene': 'RFXANK', 'score': 11.78}, {'connected_gene': 'BORCS8', 'score': 11.78}, {'connected_gene': 'BORCS8-MEF2B', 'score': 11.78}, {'connected_gene': 'HAPLN4', 'score': 10.82}, {'connected_gene': 'GC19P020250', 'score': 0.44}, {'connected_gene': 'GC19M019131', 'score': 0.34}]
chr19	GH19I019110	19110401	19111000	0.52	[{'connected_gene': 'TMEM161A', 'score': 13.14}, {'connected_gene': 'SLC25A42', 'score': 12.43}, {'connected_gene': 'SUGP2', 'score': 12.03}, {'connected_gene': 'ARMC6', 'score': 12.03}, {'connected_gene': 'MEF2B', 'score': 11.82}, {'connected_gene': 'RFXANK', 'score': 11.77}, {'connected_gene': 'BORCS8-MEF2B', 'score': 11.77}, {'connected_gene': 'BORCS8', 'score': 11.77}, {'connected_gene': 'HAPLN4', 'score': 10.82}, {'connected_gene': 'GC19P020250', 'score': 0.77}, {'connected_gene': 'GC19M019131', 'score': 0.34}]
chr19	GH19I019039	19039120	19041227	0.96	[{'connected_gene': 'TMEM161A', 'score': 29.03}, {'connected_gene': 'SLC25A42', 'score': 12.81}, {'connected_gene': 'MEF2B', 'score': 10.58}, {'connected_gene': 'RFXANK', 'score': 10.57}, {'connected_gene': 'BORCS8-MEF2B', 'score': 10.57}, {'connected_gene': 'BORCS8', 'score': 10.57}, {'connected_gene': 'HOMER3', 'score': 10.51}, {'connected_gene': 'HAPLN4', 'score': 10.31}, {'connected_gene': 'ARMC6', 'score': 5.7}, {'connected_gene': 'SUGP2', 'score': 4.73}, {'connected_gene': 'GC19M019046', 'score': 0.44}]
chr19	GH19I019328	19328801	19329914	0.63	[{'connected_gene': 'GATAD2A', 'score': 13.86}, {'connected_gene': 'HAPLN4', 'score': 12.15}, {'connected_gene': 'SUGP2', 'score': 9.87}, {'connected_gene': 'SUGP1', 'score': 0.44}, {'connected_gene': 'MAU2', 'score': 0.44}, {'connected_gene': 'GC19M019332', 'score': 0.39}]
chr19	GH19I019816	19816918	19819550	0.43	[{'connected_gene': 'ZNF506', 'score': 16.51}, {'connected_gene': 'ATP13A1', 'score': 11.72}, {'connected_gene': 'ZNF101', 'score': 11.72}, {'connected_gene': 'HAPLN4', 'score': 5.62}, {'connected_gene': 'ENSG00000267581', 'score': 0.77}, {'connected_gene': 'ENSG00000267481', 'score': 0.31}, {'connected_gene': 'ZNF56', 'score': 0.26}]
chr19	GH19I019333	19333893	19335240	0.4	[{'connected_gene': 'HAPLN4', 'score': 12.04}, {'connected_gene': 'RFXANK', 'score': 11.24}, {'connected_gene': 'BORCS8-MEF2B', 'score': 11.24}, {'connected_gene': 'BORCS8', 'score': 11.24}, {'connected_gene': 'MEF2B', 'score': 11.23}, {'connected_gene': 'MAU2', 'score': 8.17}, {'connected_gene': 'YJEFN3', 'score': 4.58}, {'connected_gene': 'GC19M019332', 'score': 0.44}, {'connected_gene': 'SUGP1', 'score': 0.39}]
chr19	GH19I018961	18961446	18962400	0.85	[{'connected_gene': 'HAPLN4', 'score': 9.94}, {'connected_gene': 'ATP13A1', 'score': 5.5}, {'connected_gene': 'RN7SL70P', 'score': 0.77}, {'connected_gene': 'GC19M018978', 'score': 0.37}]
chr19	GH19I019260	19260376	19262588	0.92	[{'connected_gene': 'HAPLN4', 'score': 550.77}, {'connected_gene': 'NR2C2AP', 'score': 30.03}, {'connected_gene': 'ZNF90', 'score': 24.43}, {'connected_gene': 'ENSG00000268030', 'score': 24.27}, {'connected_gene': 'NDUFA13', 'score': 23.39}, {'connected_gene': 'ATP13A1', 'score': 16.6}, {'connected_gene': 'IQCN', 'score': 14.35}, {'connected_gene': 'MAU2', 'score': 14.34}, {'connected_gene': 'UPF1', 'score': 13.52}, {'connected_gene': 'ENSG00000267481', 'score': 11.48}, {'connected_gene': 'TMEM161A', 'score': 11.16}, {'connected_gene': 'ZNF93', 'score': 9.66}, {'connected_gene': 'ENSG00000280282', 'score': 0.44}, {'connected_gene': 'ENSG00000267629', 'score': 0.39}]
chr19	GH19I019262	19262794	19262853	0.73	[{'connected_gene': 'HAPLN4', 'score': 550.77}, {'connected_gene': 'ENSG00000267629', 'score': 0.39}]
chr19	GH19I019058	19058889	19066165	2.29	[{'connected_gene': 'SLC25A42', 'score': 559.3}, {'connected_gene': 'UPF1', 'score': 22.72}, {'connected_gene': 'ELL', 'score': 20.21}, {'connected_gene': 'ENSG00000268030', 'score': 17.79}, {'connected_gene': 'TMEM161A', 'score': 16.22}, {'connected_gene': 'NR2C2AP', 'score': 15.05}, {'connected_gene': 'ENSG00000268938', 'score': 13.68}, {'connected_gene': 'MAU2', 'score': 13.24}, {'connected_gene': 'ENSG00000269191', 'score': 13.23}, {'connected_gene': 'IQCN', 'score': 13.22}, {'connected_gene': 'UBA52', 'score': 10.61}, {'connected_gene': 'KXD1', 'score': 10.54}, {'connected_gene': 'MEF2B', 'score': 10.44}, {'connected_gene': 'HAPLN4', 'score': 10.19}, {'connected_gene': 'ATP13A1', 'score': 10.1}, {'connected_gene': 'SUGP2', 'score': 4.61}, {'connected_gene': 'PIR39711', 'score': 0.44}, {'connected_gene': 'ARMC6', 'score': 0.31}]
chr19	GH19I019259	19259819	19260045	0.85	[{'connected_gene': 'GDF1', 'score': 3.03}, {'connected_gene': 'NCAN', 'score': 1.69}, {'connected_gene': 'SUGP2', 'score': 1.37}, {'connected_gene': 'HAPLN4', 'score': 0.77}, {'connected_gene': 'ENSG00000280282', 'score': 0.77}, {'connected_gene': 'ENSG00000267629', 'score': 0.39}]
chr19	GH19I018893	18893193	18896401	2.16	[{'connected_gene': 'GDF1', 'score': 590.1}, {'connected_gene': 'CERS1', 'score': 550.77}, {'connected_gene': 'TMEM59L', 'score': 8.37}, {'connected_gene': 'CRTC1', 'score': 7.81}, {'connected_gene': 'HAPLN4', 'score': 5.64}, {'connected_gene': 'HOMER3', 'score': 5.27}, {'connected_gene': 'NCAN', 'score': 4.07}, {'connected_gene': 'SUGP2', 'score': 2.99}, {'connected_gene': 'KLHL26', 'score': 2.23}, {'connected_gene': 'SLC25A42', 'score': 1.39}, {'connected_gene': 'ENSG00000269694', 'score': 0.39}, {'connected_gene': 'GC19M018886', 'score': 0.39}]
chr19	GH19I018761	18761509	18765591	1.5	[{'connected_gene': 'COMP', 'score': 9.93}, {'connected_gene': 'CRLF1', 'score': 7.56}, {'connected_gene': 'TMEM59L', 'score': 6.06}, {'connected_gene': 'HAPLN4', 'score': 4.95}, {'connected_gene': 'KXD1', 'score': 4.33}, {'connected_gene': 'GC19P020256', 'score': 0.77}, {'connected_gene': 'GC19M018784', 'score': 0.34}, {'connected_gene': 'CRTC1', 'score': 0.18}]
chr19	GH19I019201	19201912	19204021	1.95	[{'connected_gene': 'NR2C2AP', 'score': 561.28}, {'connected_gene': 'ENSG00000267481', 'score': 16.81}, {'connected_gene': 'MAU2', 'score': 13.78}, {'connected_gene': 'ATP13A1', 'score': 12.93}, {'connected_gene': 'UPF1', 'score': 12.69}, {'connected_gene': 'ENSG00000268938', 'score': 12.64}, {'connected_gene': 'ENSG00000269191', 'score': 12.56}, {'connected_gene': 'ZNF90', 'score': 12.39}, {'connected_gene': 'ZNF14', 'score': 11.96}, {'connected_gene': 'ENSG00000268030', 'score': 11.95}, {'connected_gene': 'ZNF506', 'score': 11.73}, {'connected_gene': 'HAPLN4', 'score': 11.25}, {'connected_gene': 'IQCN', 'score': 10.92}, {'connected_gene': 'ZNF56', 'score': 10.57}, {'connected_gene': 'ZNF486', 'score': 9.76}, {'connected_gene': 'BORCS8-MEF2B', 'score': 0.39}, {'connected_gene': 'BORCS8', 'score': 0.39}]
chr19	GH19I019342	19342792	19342961	0.95	[{'connected_gene': 'GC19M019332', 'score': 550.77}, {'connected_gene': 'GATAD2A', 'score': 12.67}, {'connected_gene': 'HAPLN4', 'score': 11.55}, {'connected_gene': 'BORCS8', 'score': 11.33}, {'connected_gene': 'BORCS8-MEF2B', 'score': 11.33}, {'connected_gene': 'RFXANK', 'score': 11.33}, {'connected_gene': 'MEF2B', 'score': 11.32}, {'connected_gene': 'GC19P020252', 'score': 0.39}, {'connected_gene': 'MAU2', 'score': 0.34}]
chr19	GH19I019271	19271784	19274019	1.65	[{'connected_gene': 'ENSG00000267629', 'score': 550.77}, {'connected_gene': 'TM6SF2', 'score': 550.77}, {'connected_gene': 'NDUFA13', 'score': 23.39}, {'connected_gene': 'GATAD2A', 'score': 13.6}, {'connected_gene': 'MAU2', 'score': 9.38}, {'connected_gene': 'HAPLN4', 'score': 0.39}]