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

Promoter

Chrom	Start	End	Description
chr19	19144386	19144457	CAGE_peak_1_at_ARMC6_5end
chr19	19144519	19144533	CAGE_peak_3_at_ARMC6_5end
chr19	19144666	19144730	CAGE_peak_2_at_ARMC6_5end
chr19	19162934	19162946	CAGE_peak_12_at_ARMC6_5end
chr19	19162949	19162960	CAGE_peak_15_at_ARMC6_5end
chr19	19162961	19162974	CAGE_peak_13_at_ARMC6_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I019031	19031842	19034910	2.35	[{'connected_gene': 'ARMC6', 'score': 553.37}, {'connected_gene': 'SUGP2', 'score': 552.67}, {'connected_gene': 'ATP13A1', 'score': 27.04}, {'connected_gene': 'TMEM161A', 'score': 26.67}, {'connected_gene': 'MEF2B', 'score': 20.44}, {'connected_gene': 'ENSG00000268030', 'score': 18.92}, {'connected_gene': 'NR2C2AP', 'score': 15.07}, {'connected_gene': 'ENSG00000268938', 'score': 13.86}, {'connected_gene': 'UPF1', 'score': 13.82}, {'connected_gene': 'ENSG00000269191', 'score': 12.52}, {'connected_gene': 'ENSG00000267481', 'score': 12.31}, {'connected_gene': 'MAU2', 'score': 11.93}, {'connected_gene': 'IQCN', 'score': 10.23}, {'connected_gene': 'RFXANK', 'score': 10.17}, {'connected_gene': 'BORCS8', 'score': 10.17}, {'connected_gene': 'BORCS8-MEF2B', 'score': 10.17}, {'connected_gene': 'SLC25A42', 'score': 8.83}, {'connected_gene': 'SUGP1', 'score': 1.99}, {'connected_gene': 'DDX49', 'score': 1.95}, {'connected_gene': 'GC19M018978', 'score': 0.23}]
chr19	GH19I019104	19104446	19106641	1.36	[{'connected_gene': 'TMEM161A', 'score': 19.49}, {'connected_gene': 'ARMC6', 'score': 7.79}, {'connected_gene': 'GC19P020250', 'score': 0.77}, {'connected_gene': 'SLC25A42', 'score': 0.26}]
chr19	GH19I018984	18984802	18986199	0.63	[{'connected_gene': 'TMEM161A', 'score': 9.51}, {'connected_gene': 'GC19M018978', 'score': 0.44}, {'connected_gene': 'ARMC6', 'score': 0.25}]
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	GH19I019020	19020858	19021949	0.38	[{'connected_gene': 'TMEM161A', 'score': 18.27}, {'connected_gene': 'SUGP2', 'score': 0.39}, {'connected_gene': 'ARMC6', 'score': 0.39}, {'connected_gene': 'GC19M018978', 'score': 0.26}]
chr19	GH19I019022	19022246	19023046	0.57	[{'connected_gene': 'TMEM161A', 'score': 16.47}, {'connected_gene': 'SUGP2', 'score': 0.39}, {'connected_gene': 'ARMC6', 'score': 0.39}, {'connected_gene': 'GC19M018978', 'score': 0.26}]
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	GH19I019094	19094135	19097871	0.93	[{'connected_gene': 'SLC25A42', 'score': 20.8}, {'connected_gene': 'TMEM161A', 'score': 16.37}, {'connected_gene': 'MEF2B', 'score': 10.82}, {'connected_gene': 'BORCS8', 'score': 10.78}, {'connected_gene': 'BORCS8-MEF2B', 'score': 10.78}, {'connected_gene': 'RFXANK', 'score': 10.78}, {'connected_gene': 'ARMC6', 'score': 4.99}, {'connected_gene': 'GC19P020250', 'score': 0.39}]
chr19	GH19I018995	18995396	18996601	0.7	[{'connected_gene': 'SUGP2', 'score': 16.78}, {'connected_gene': 'ARMC6', 'score': 11.9}, {'connected_gene': 'CERS1', 'score': 11.3}, {'connected_gene': 'GDF1', 'score': 11.3}, {'connected_gene': 'GC19M018978', 'score': 0.37}]
chr19	GH19I019042	19042783	19043607	0.2	[{'connected_gene': 'MEF2B', 'score': 10.52}, {'connected_gene': 'RFXANK', 'score': 10.51}, {'connected_gene': 'BORCS8-MEF2B', 'score': 10.51}, {'connected_gene': 'BORCS8', 'score': 10.51}, {'connected_gene': 'HOMER3', 'score': 10.5}, {'connected_gene': 'SLC25A42', 'score': 8.87}, {'connected_gene': 'TMEM161A', 'score': 6.59}, {'connected_gene': 'GC19M019046', 'score': 0.44}, {'connected_gene': 'SUGP2', 'score': 0.44}, {'connected_gene': 'ARMC6', 'score': 0.44}]
chr19	GH19I019053	19053892	19054041	0.72	[{'connected_gene': 'PIR39711', 'score': 550.77}, {'connected_gene': 'ARMC6', 'score': 12.12}, {'connected_gene': 'MEF2B', 'score': 10.68}, {'connected_gene': 'BORCS8', 'score': 10.67}, {'connected_gene': 'BORCS8-MEF2B', 'score': 10.67}, {'connected_gene': 'RFXANK', 'score': 10.67}, {'connected_gene': 'SUGP2', 'score': 4.66}, {'connected_gene': 'GC19M019046', 'score': 0.44}]
chr19	GH19I018986	18986402	18987199	1.01	[{'connected_gene': 'GC19M018978', 'score': 0.44}, {'connected_gene': 'ARMC6', 'score': 0.25}]

Transcript ID	Transcript exon region	Coding exon region
ENST00000392335	[[19144383, 19144739], [19153519, 19153686], [19154800, 19154883], [19162430, 19163004], [19164960, 19165130], [19166073, 19166205], [19166599, 19166737], [19168224, 19168987]]	[[19153565, 19153686], [19154800, 19154883], [19162430, 19163004], [19164960, 19165130], [19166073, 19166205], [19166599, 19166737], [19168224, 19168437]]
ENST00000535612	[[19144386, 19144739], [19144939, 19145047], [19153519, 19153686], [19154800, 19154883], [19162430, 19163004], [19164960, 19165130], [19166073, 19166205], [19166599, 19166737], [19168224, 19168987]]	[[19145018, 19145047], [19153519, 19153686], [19154800, 19154883], [19162430, 19163004], [19164960, 19165130], [19166073, 19166205], [19166599, 19166737], [19168224, 19168437]]
ENST00000537263	[[19144393, 19144739], [19148360, 19148516], [19153519, 19153686], [19154800, 19154883], [19162430, 19162996]]	[[19153565, 19153686], [19154800, 19154883], [19162430, 19162996]]
ENST00000540707	[[19144411, 19144739], [19150130, 19150223], [19153519, 19153655]]	[[19153565, 19153655]]
ENST00000541725	[[19144418, 19144470], [19145000, 19145047], [19153519, 19153686], [19154800, 19154883], [19162430, 19162641]]	[[19145018, 19145047], [19153519, 19153686], [19154800, 19154883], [19162430, 19162641]]
ENST00000269932	[[19144418, 19144822], [19153519, 19153686], [19154800, 19154883], [19162430, 19163004], [19164960, 19165130], [19166073, 19166205], [19166599, 19166737], [19168224, 19168968]]	[[19153565, 19153686], [19154800, 19154883], [19162430, 19163004], [19164960, 19165130], [19166073, 19166205], [19166599, 19166737], [19168224, 19168437]]
ENST00000546344	[[19144421, 19144739], [19162430, 19163004], [19164960, 19165130], [19166073, 19166205], [19166599, 19166737], [19168224, 19168467], [19170071, 19170310]]	[[19162430, 19163004], [19164960, 19165130], [19166073, 19166205], [19166599, 19166737], [19168224, 19168437]]
ENST00000540792	[[19144422, 19144739], [19144939, 19145047], [19153524, 19153686], [19154800, 19154883], [19162430, 19162711]]	[[19153565, 19153686], [19154800, 19154883], [19162430, 19162711]]
ENST00000536098	[[19144429, 19144739], [19153524, 19153686], [19154800, 19154883], [19162430, 19162438]]	[[19153565, 19153686], [19154800, 19154883], [19162430, 19162438]]
ENST00000541898	[[19144443, 19144822], [19153524, 19153686], [19154800, 19154883], [19162430, 19163004]]	[[19153565, 19153686], [19154800, 19154883], [19162430, 19163004]]
ENST00000539985	[[19144448, 19144739], [19144939, 19145047], [19148360, 19148516], [19153519, 19153686], [19154800, 19154883], [19162430, 19162877]]	[[19145018, 19145047], [19148360, 19148475]]
ENST00000543877	[[19144472, 19144739], [19144939, 19145047], [19150130, 19150223], [19153519, 19153588]]	[[19145018, 19145047], [19150130, 19150223], [19153519, 19153588]]
ENST00000545091	[[19144631, 19144739], [19153519, 19153686], [19162430, 19163004], [19164960, 19165130], [19166073, 19166133]]	[[19153565, 19153686], [19162430, 19162441]]
ENST00000535288	[[19144669, 19144822], [19162430, 19162899]]	[[19162430, 19162899]]
ENST00000538663	[[19144720, 19144822], [19150130, 19150223], [19153519, 19153686], [19154800, 19154883], [19162430, 19162537]]	[[19153565, 19153686], [19154800, 19154883], [19162430, 19162537]]
ENST00000392336	[[19144911, 19145047], [19153519, 19153686], [19154800, 19154883], [19162430, 19163004], [19164960, 19165130], [19166073, 19166205], [19166599, 19166737], [19168224, 19168690]]	[[19145018, 19145047], [19153519, 19153686], [19154800, 19154883], [19162430, 19163004], [19164960, 19165130], [19166073, 19166205], [19166599, 19166737], [19168224, 19168437]]
ENST00000535758	[[19145009, 19145047], [19151498, 19151601], [19153519, 19153686], [19154800, 19154883], [19162430, 19162544]]	[[19145018, 19145047], [19151498, 19151601], [19153519, 19153600]]
ENST00000535478	[[19165039, 19165130], [19166073, 19166205], [19168224, 19168763]]	[[19165039, 19165130], [19166073, 19166205], [19168224, 19168437]]
ENST00000535795	[[19165117, 19165130], [19166073, 19166205], [19166599, 19166786], [19168224, 19168944]]	[[19165117, 19165130], [19166073, 19166205], [19166599, 19166786], [19168224, 19168304]]
ENST00000540634	[[19166706, 19166737], [19168224, 19168467], [19170074, 19170563]]	[[19166706, 19166737], [19168224, 19168437]]
NM_033415	[[19144386, 19144739], [19153519, 19153686], [19154800, 19154883], [19162430, 19163004], [19164960, 19165130], [19166073, 19166205], [19166599, 19166737], [19168224, 19168987]]	[[19153565, 19153686], [19154800, 19154883], [19162430, 19163004], [19164960, 19165130], [19166073, 19166205], [19166599, 19166737], [19168224, 19168437]]
NM_001199196	[[19144386, 19144739], [19144939, 19145047], [19153519, 19153686], [19154800, 19154883], [19162430, 19163004], [19164960, 19165130], [19166073, 19166205], [19166599, 19166737], [19168224, 19168987]]	[[19145018, 19145047], [19153519, 19153686], [19154800, 19154883], [19162430, 19163004], [19164960, 19165130], [19166073, 19166205], [19166599, 19166737], [19168224, 19168437]]