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
ENST00000368029	[[160914814, 160915082], [160917718, 160917822], [160919835, 160919956], [160920342, 160920501], [160920832, 160921080], [160922409, 160922523], [160924176, 160924240], [160924516, 160924589]]	[[160914929, 160915082], [160917718, 160917822], [160919835, 160919956], [160920342, 160920501], [160920832, 160921080], [160922409, 160922523], [160924176, 160924240], [160924516, 160924531]]
ENST00000494442	[[160914883, 160915082], [160917718, 160917822], [160919835, 160919956], [160920342, 160920802]]	None
ENST00000490489	[[160920342, 160920501], [160920832, 160921264]]	None
NM_080878	[[160914815, 160915082], [160917718, 160917822], [160919835, 160919956], [160920342, 160920501], [160920832, 160921080], [160922409, 160922523], [160924176, 160924240], [160924516, 160924589]]	[[160914929, 160915082], [160917718, 160917822], [160919835, 160919956], [160920342, 160920501], [160920832, 160921080], [160922409, 160922523], [160924176, 160924240], [160924516, 160924531]]

Promoter

Chrom	Start	End	Description
chr1	160921236	160921247	CAGE_peak_5_at_ITLN2_5end
chr1	160921248	160921264	CAGE_peak_2_at_ITLN2_5end
chr1	160924595	160924607	CAGE_peak_1_at_ITLN2_5end
chr1	160924623	160924635	CAGE_peak_3_at_ITLN2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I160972	160971700	160971860	0.68	[{'connected_gene': 'DEDD', 'score': 13.72}, {'connected_gene': 'B4GALT3', 'score': 13.15}, {'connected_gene': 'USP21', 'score': 12.74}, {'connected_gene': 'NCSTN', 'score': 12.37}, {'connected_gene': 'ATF6', 'score': 12.36}, {'connected_gene': 'DUSP12', 'score': 12.11}, {'connected_gene': 'LOC100287049', 'score': 11.55}, {'connected_gene': 'PPOX', 'score': 10.87}, {'connected_gene': 'ITLN2', 'score': 0.39}, {'connected_gene': 'PIR56289', 'score': 0.31}, {'connected_gene': 'GC01M160999', 'score': 0.31}]
chr1	GH01I160810	160810240	160812054	0.46	[{'connected_gene': 'SLAMF7', 'score': 10.95}, {'connected_gene': 'ITLN1', 'score': 10.56}, {'connected_gene': 'CD48', 'score': 10.26}, {'connected_gene': 'ENSG00000228863', 'score': 10.14}, {'connected_gene': 'SLAMF1', 'score': 9.99}, {'connected_gene': 'LOC105371471', 'score': 8.79}, {'connected_gene': 'ITLN2', 'score': 5.6}, {'connected_gene': 'PIR60624', 'score': 0.39}, {'connected_gene': 'LY9', 'score': 0.37}]
chr1	GH01I160817	160817741	160819762	0.2	[{'connected_gene': 'SLAMF7', 'score': 10.85}, {'connected_gene': 'ITLN1', 'score': 10.4}, {'connected_gene': 'SLAMF1', 'score': 10.02}, {'connected_gene': 'ITLN2', 'score': 5.83}, {'connected_gene': 'TSTD1', 'score': 4.66}, {'connected_gene': 'PIR60624', 'score': 0.44}, {'connected_gene': 'LY9', 'score': 0.34}]
chr1	GH01I160805	160805753	160807165	0.59	[{'connected_gene': 'SLAMF7', 'score': 10.96}, {'connected_gene': 'ITLN1', 'score': 10.55}, {'connected_gene': 'ENSG00000228863', 'score': 10.33}, {'connected_gene': 'SLAMF1', 'score': 10.0}, {'connected_gene': 'LOC105371471', 'score': 9.39}, {'connected_gene': 'CD244', 'score': 5.36}, {'connected_gene': 'ITLN2', 'score': 5.06}, {'connected_gene': 'TSTD1', 'score': 5.03}, {'connected_gene': 'LY9', 'score': 0.39}, {'connected_gene': 'PIR60624', 'score': 0.37}]
chr1	GH01I160950	160949511	160949660	0.92	[{'connected_gene': 'ITLN1', 'score': 10.34}, {'connected_gene': 'LY9', 'score': 10.29}, {'connected_gene': 'SLAMF7', 'score': 10.04}, {'connected_gene': 'ENSG00000228863', 'score': 9.62}, {'connected_gene': 'ENSG00000232188', 'score': 5.37}, {'connected_gene': 'ITLN2', 'score': 0.44}, {'connected_gene': 'ENSG00000233691', 'score': 0.39}, {'connected_gene': 'LOC101928372', 'score': 0.37}]
chr1	GH01I160949	160949231	160949380	0.9	[{'connected_gene': 'ITLN1', 'score': 10.34}, {'connected_gene': 'LY9', 'score': 10.29}, {'connected_gene': 'SLAMF7', 'score': 10.04}, {'connected_gene': 'ENSG00000228863', 'score': 9.62}, {'connected_gene': 'ITLN2', 'score': 0.44}, {'connected_gene': 'ENSG00000233691', 'score': 0.39}, {'connected_gene': 'LOC101928372', 'score': 0.37}]
chr1	GH01I160946	160946797	160949199	0.81	[{'connected_gene': 'ITLN1', 'score': 10.34}, {'connected_gene': 'LY9', 'score': 10.29}, {'connected_gene': 'SLAMF7', 'score': 10.04}, {'connected_gene': 'ENSG00000228863', 'score': 9.62}, {'connected_gene': 'LOC101928372', 'score': 6.15}, {'connected_gene': 'CD244', 'score': 5.96}, {'connected_gene': 'ITLN2', 'score': 5.72}, {'connected_gene': 'ENSG00000233691', 'score': 0.39}]
chr1	GH01I160951	160951201	160952815	0.88	[{'connected_gene': 'ITLN1', 'score': 10.34}, {'connected_gene': 'LY9', 'score': 10.29}, {'connected_gene': 'SLAMF7', 'score': 10.04}, {'connected_gene': 'ENSG00000228863', 'score': 9.62}, {'connected_gene': 'ENSG00000232188', 'score': 5.52}, {'connected_gene': 'LOC101928372', 'score': 5.51}, {'connected_gene': 'ITLN2', 'score': 0.44}, {'connected_gene': 'ENSG00000233691', 'score': 0.37}]
chr1	GH01I160978	160978591	160978740	0.88	[{'connected_gene': 'PPOX', 'score': 10.67}, {'connected_gene': 'LY9', 'score': 10.6}, {'connected_gene': 'ITLN1', 'score': 10.6}, {'connected_gene': 'SLAMF7', 'score': 10.47}, {'connected_gene': 'SLAMF1', 'score': 10.0}, {'connected_gene': 'ENSG00000228863', 'score': 9.3}, {'connected_gene': 'PIR56289', 'score': 0.37}, {'connected_gene': 'GC01M160999', 'score': 0.37}, {'connected_gene': 'ITLN2', 'score': 0.34}]
chr1	GH01I160986	160986646	160988091	0.38	[{'connected_gene': 'F11R', 'score': 20.35}, {'connected_gene': 'ITLN2', 'score': 12.99}, {'connected_gene': 'ENSG00000232879', 'score': 11.64}, {'connected_gene': 'TSTD1', 'score': 11.62}, {'connected_gene': 'SLAMF7', 'score': 10.87}, {'connected_gene': 'KLHDC9', 'score': 10.84}, {'connected_gene': 'ITLN1', 'score': 10.74}, {'connected_gene': 'ARHGAP30', 'score': 10.73}, {'connected_gene': 'NECTIN4', 'score': 10.71}, {'connected_gene': 'LOC105371471', 'score': 10.71}, {'connected_gene': 'ENSG00000228863', 'score': 10.26}, {'connected_gene': 'LY9', 'score': 10.09}, {'connected_gene': 'DEDD', 'score': 10.07}, {'connected_gene': 'SLAMF1', 'score': 9.91}, {'connected_gene': 'PIR56289', 'score': 0.39}, {'connected_gene': 'GC01M160999', 'score': 0.39}]
chr1	GH01I160993	160993600	160994000	0.54	[{'connected_gene': 'F11R', 'score': 6.55}, {'connected_gene': 'PIR56289', 'score': 0.77}, {'connected_gene': 'GC01M160999', 'score': 0.77}, {'connected_gene': 'ITLN2', 'score': 0.28}]
chr1	GH01I160989	160989782	160990987	1.42	[{'connected_gene': 'F11R', 'score': 19.94}, {'connected_gene': 'ENSG00000232879', 'score': 19.23}, {'connected_gene': 'DUSP12', 'score': 16.53}, {'connected_gene': 'USP21', 'score': 12.81}, {'connected_gene': 'TSTD1', 'score': 11.64}, {'connected_gene': 'SLAMF7', 'score': 10.27}, {'connected_gene': 'ENSG00000228863', 'score': 10.26}, {'connected_gene': 'SLAMF1', 'score': 9.91}, {'connected_gene': 'NIT1', 'score': 5.71}, {'connected_gene': 'PIR56289', 'score': 0.44}, {'connected_gene': 'GC01M160999', 'score': 0.44}, {'connected_gene': 'ITLN2', 'score': 0.29}]
chr1	GH01I160954	160954201	160954460	0.85	[{'connected_gene': 'ITLN2', 'score': 0.77}, {'connected_gene': 'ENSG00000233691', 'score': 0.37}]
chr1	GH01I160955	160954799	160954858	0.61	[{'connected_gene': 'ITLN2', 'score': 550.77}, {'connected_gene': 'ENSG00000233691', 'score': 0.37}]
chr1	GH01I160971	160971871	160972100	0.65	[{'connected_gene': 'TSTD1', 'score': 14.32}, {'connected_gene': 'F11R', 'score': 6.71}, {'connected_gene': 'ITLN2', 'score': 0.39}, {'connected_gene': 'PIR56289', 'score': 0.31}, {'connected_gene': 'GC01M160999', 'score': 0.31}]
chr1	GH01I160980	160980996	160982963	0.66	[{'connected_gene': 'TSTD1', 'score': 33.34}, {'connected_gene': 'LY9', 'score': 10.6}, {'connected_gene': 'ITLN1', 'score': 10.59}, {'connected_gene': 'SLAMF7', 'score': 10.47}, {'connected_gene': 'SLAMF1', 'score': 10.0}, {'connected_gene': 'ENSG00000228863', 'score': 9.3}, {'connected_gene': 'F11R', 'score': 8.44}, {'connected_gene': 'PIR56289', 'score': 0.37}, {'connected_gene': 'GC01M160999', 'score': 0.37}, {'connected_gene': 'ITLN2', 'score': 0.34}]
chr1	GH01I160935	160935600	160936001	0.38	[{'connected_gene': 'ENSG00000233691', 'score': 550.77}, {'connected_gene': 'ENSG00000232188', 'score': 550.77}, {'connected_gene': 'ITLN1', 'score': 10.65}, {'connected_gene': 'SLAMF1', 'score': 9.88}, {'connected_gene': 'LOC101928372', 'score': 0.77}, {'connected_gene': 'ITLN2', 'score': 0.34}]
chr1	GH01I160994	160994732	160998574	1.32	[{'connected_gene': 'PIR56289', 'score': 550.77}, {'connected_gene': 'PIR39820', 'score': 550.77}, {'connected_gene': 'GC01M160999', 'score': 550.77}, {'connected_gene': 'USP21', 'score': 12.84}, {'connected_gene': 'DUSP12', 'score': 12.47}, {'connected_gene': 'B4GALT3', 'score': 11.98}, {'connected_gene': 'NCSTN', 'score': 11.83}, {'connected_gene': 'PPOX', 'score': 11.59}, {'connected_gene': 'LOC100287049', 'score': 10.91}, {'connected_gene': 'COPA', 'score': 10.53}, {'connected_gene': 'ATF6', 'score': 10.37}, {'connected_gene': 'DEDD', 'score': 9.85}, {'connected_gene': 'F11R', 'score': 6.71}, {'connected_gene': 'ITLN2', 'score': 0.28}, {'connected_gene': 'ENSG00000270149', 'score': 0.26}]