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
ENST00000368564	[[117002349, 117002501], [117010482, 117010616], [117013217, 117013319], [117013455, 117013555], [117019866, 117019961], [117023181, 117023313], [117026234, 117026323], [117037381, 117037481], [117043288, 117043452], [117045459, 117045538], [117046913, 117047039], [117047657, 117047785], [117050725, 117050904], [117053298, 117056807]]	[[117002497, 117002501], [117010482, 117010616], [117013217, 117013319], [117013455, 117013555], [117019866, 117019961], [117023181, 117023313], [117026234, 117026323], [117037381, 117037481], [117043288, 117043452], [117045459, 117045538], [117046913, 117047039], [117047657, 117047785], [117050725, 117050904], [117053298, 117053486]]
ENST00000356348	[[117002366, 117002501], [117010482, 117010616], [117013217, 117013319], [117013455, 117013555], [117019866, 117019961], [117023181, 117023313], [117026234, 117026323], [117037381, 117037481], [117043288, 117043452], [117045459, 117045538], [117046913, 117047039], [117047657, 117047785], [117050725, 117050904], [117053298, 117053531], [117062668, 117063029]]	[[117002497, 117002501], [117010482, 117010616], [117013217, 117013319], [117013455, 117013555], [117019866, 117019961], [117023181, 117023313], [117026234, 117026323], [117037381, 117037481], [117043288, 117043452], [117045459, 117045538], [117046913, 117047039], [117047657, 117047785], [117050725, 117050904], [117053298, 117053486]]
ENST00000413340	[[117002349, 117002501], [117002609, 117002715], [117010482, 117010616], [117013217, 117013319], [117013455, 117013555], [117019866, 117019961]]	[[117010487, 117010616], [117013217, 117013319], [117013455, 117013555], [117019866, 117019961]]
ENST00000392517	[[117050725, 117050904], [117053298, 117053531], [117062668, 117063029]]	[[117050725, 117050904], [117053298, 117053486]]
NM_002269	[[117002366, 117002501], [117010482, 117010616], [117013217, 117013319], [117013455, 117013555], [117019866, 117019961], [117023181, 117023313], [117026234, 117026323], [117037381, 117037481], [117043288, 117043452], [117045459, 117045538], [117046913, 117047039], [117047657, 117047785], [117050725, 117050904], [117053298, 117053531], [117062668, 117063030]]	[[117002497, 117002501], [117010482, 117010616], [117013217, 117013319], [117013455, 117013555], [117019866, 117019961], [117023181, 117023313], [117026234, 117026323], [117037381, 117037481], [117043288, 117043452], [117045459, 117045538], [117046913, 117047039], [117047657, 117047785], [117050725, 117050904], [117053298, 117053486]]

Promoter

Chrom	Start	End	Description
chr6	117002319	117002324	CAGE_peak_4_at_KPNA5_5end
chr6	117002339	117002400	CAGE_peak_1_at_KPNA5_5end
chr6	117002413	117002420	CAGE_peak_2_at_KPNA5_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr6	GH06I117072	117072818	117072967	0.49	[{'connected_gene': 'KPNA5', 'score': 20.48}, {'connected_gene': 'GOPC', 'score': 10.77}, {'connected_gene': 'RNA5SP214', 'score': 0.39}, {'connected_gene': 'GC06M117235', 'score': 0.1}]
chr6	GH06I116679	116679966	116683205	2.28	[{'connected_gene': 'KPNA5', 'score': 552.54}, {'connected_gene': 'GC06M116680', 'score': 550.77}, {'connected_gene': 'DSE', 'score': 15.19}, {'connected_gene': 'ENSG00000240050', 'score': 11.07}, {'connected_gene': 'RWDD1', 'score': 6.14}, {'connected_gene': 'ENSG00000237021', 'score': 5.34}, {'connected_gene': 'CALHM6', 'score': 5.12}, {'connected_gene': 'ZUFSP', 'score': 1.96}, {'connected_gene': 'TSPYL1', 'score': 1.61}, {'connected_gene': 'TSPYL4', 'score': 1.49}, {'connected_gene': 'FAM162B', 'score': 0.18}]
chr6	GH06I116695	116695538	116695687	0.43	[{'connected_gene': 'KPNA5', 'score': 0.39}, {'connected_gene': 'GC06M116680', 'score': 0.39}, {'connected_gene': 'FAM162B', 'score': 0.19}]
chr6	GH06I116568	116568754	116569400	0.63	[{'connected_gene': 'KPNA5', 'score': 11.18}, {'connected_gene': 'TRAPPC3L', 'score': 11.04}, {'connected_gene': 'ENSG00000234117', 'score': 9.78}, {'connected_gene': 'RWDD1', 'score': 0.77}]
chr6	GH06I116555	116555578	116559225	0.99	[{'connected_gene': 'RSPH4A', 'score': 25.88}, {'connected_gene': 'KPNA5', 'score': 20.55}, {'connected_gene': 'CALHM6', 'score': 19.4}, {'connected_gene': 'CALHM4', 'score': 11.5}, {'connected_gene': 'ENSG00000244158', 'score': 10.28}, {'connected_gene': 'KRT18P22', 'score': 10.28}, {'connected_gene': 'CBX3P9', 'score': 10.27}, {'connected_gene': 'ENSG00000234117', 'score': 9.76}, {'connected_gene': 'CALHM5', 'score': 9.21}, {'connected_gene': 'TRAPPC3L', 'score': 8.04}, {'connected_gene': 'RWDD1', 'score': 0.39}]
chr6	GH06I116630	116630856	116632826	0.95	[{'connected_gene': 'RSPH4A', 'score': 14.79}, {'connected_gene': 'TRAPPC3L', 'score': 11.01}, {'connected_gene': 'KPNA5', 'score': 10.62}, {'connected_gene': 'CALHM4', 'score': 10.28}, {'connected_gene': 'GC06P116597', 'score': 0.29}, {'connected_gene': 'ZUFSP', 'score': 0.28}]
chr6	GH06I116228	116228945	116230024	1.11	[{'connected_gene': 'DSE', 'score': 19.51}, {'connected_gene': 'TSPYL4', 'score': 18.06}, {'connected_gene': 'KPNA5', 'score': 2.9}, {'connected_gene': 'TSPYL1', 'score': 2.72}, {'connected_gene': 'PIR35709', 'score': 0.77}, {'connected_gene': 'GC06P116233', 'score': 0.77}, {'connected_gene': 'GC06P116234', 'score': 0.77}, {'connected_gene': 'COL10A1', 'score': 0.39}, {'connected_gene': 'NT5DC1', 'score': 0.13}]
chr6	GH06I117264	117264518	117271136	1.96	[{'connected_gene': 'VGLL2', 'score': 563.91}, {'connected_gene': 'KPNA5', 'score': 4.82}, {'connected_gene': 'LOC105377964', 'score': 0.77}, {'connected_gene': 'RN7SKP18', 'score': 0.29}]
chr6	GH06I116250	116250613	116256466	2.05	[{'connected_gene': 'TSPYL4', 'score': 570.82}, {'connected_gene': 'DSE', 'score': 570.6}, {'connected_gene': 'ENSG00000237021', 'score': 550.77}, {'connected_gene': 'KPNA5', 'score': 20.98}, {'connected_gene': 'ENSG00000234117', 'score': 9.5}, {'connected_gene': 'TSPYL1', 'score': 7.2}, {'connected_gene': 'ENSG00000240050', 'score': 6.67}, {'connected_gene': 'RSPH4A', 'score': 4.57}, {'connected_gene': 'GC06M116250', 'score': 0.77}]
chr6	GH06I116665	116665596	116669407	2.25	[{'connected_gene': 'ZUFSP', 'score': 563.24}, {'connected_gene': 'CALHM5', 'score': 7.39}, {'connected_gene': 'KPNA5', 'score': 6.8}, {'connected_gene': 'RWDD1', 'score': 6.3}, {'connected_gene': 'DSE', 'score': 1.12}, {'connected_gene': 'GC06P116597', 'score': 0.2}]
chr6	GH06I116268	116268201	116269000	1.1	[{'connected_gene': 'CALHM4', 'score': 11.62}, {'connected_gene': 'KPNA5', 'score': 11.13}, {'connected_gene': 'TRAPPC3L', 'score': 10.41}, {'connected_gene': 'CBX3P9', 'score': 10.3}, {'connected_gene': 'CALHM6', 'score': 10.3}, {'connected_gene': 'KRT18P22', 'score': 10.3}, {'connected_gene': 'ENSG00000244158', 'score': 10.29}, {'connected_gene': 'ENSG00000234117', 'score': 10.06}, {'connected_gene': 'ENSG00000237021', 'score': 6.23}, {'connected_gene': 'GC06P116262', 'score': 0.44}, {'connected_gene': 'PIR59102', 'score': 0.39}, {'connected_gene': 'DSE', 'score': 0.39}]
chr6	GH06I116098	116098293	116103007	2.27	[{'connected_gene': 'NT5DC1', 'score': 564.45}, {'connected_gene': 'FRK', 'score': 550.77}, {'connected_gene': 'KPNA5', 'score': 43.72}, {'connected_gene': 'COL10A1', 'score': 11.09}, {'connected_gene': 'TSPYL4', 'score': 9.63}, {'connected_gene': 'GC06M116078', 'score': 0.34}]
chr6	GH06I117300	117300118	117301317	0.43	[{'connected_gene': 'RN7SKP18', 'score': 550.77}, {'connected_gene': 'RN7SKP51', 'score': 550.77}, {'connected_gene': 'GOPC', 'score': 16.85}, {'connected_gene': 'KPNA5', 'score': 12.96}, {'connected_gene': 'VGLL2', 'score': 11.16}, {'connected_gene': 'DCBLD1', 'score': 4.65}, {'connected_gene': 'ROS1', 'score': 0.13}]