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
ENST00000520509	[[95891997, 95893973], [95894359, 95894517], [95895008, 95895120], [95897294, 95897429], [95897690, 95897786], [95900154, 95900301], [95902642, 95902778], [95905045, 95905197], [95906118, 95906172], [95906250, 95906347], [95906435, 95906475], [95908679, 95908906]]	[[95893859, 95893973], [95894359, 95894517], [95895008, 95895120], [95897294, 95897429], [95897690, 95897786], [95900154, 95900301], [95902642, 95902778], [95905045, 95905197], [95906118, 95906172], [95906250, 95906347], [95906435, 95906449]]
ENST00000308108	[[95892454, 95893973], [95894359, 95894517], [95895008, 95895120], [95897294, 95897429], [95897690, 95897786], [95900154, 95900301], [95902642, 95902778], [95905045, 95905197], [95906118, 95906172], [95906250, 95906347], [95906435, 95906475], [95907404, 95907484]]	[[95893859, 95893973], [95894359, 95894517], [95895008, 95895120], [95897294, 95897429], [95897690, 95897786], [95900154, 95900301], [95902642, 95902778], [95905045, 95905197], [95906118, 95906172], [95906250, 95906347], [95906435, 95906449]]
ENST00000396133	[[95893841, 95893997], [95894359, 95894517], [95895008, 95895120], [95897294, 95897429], [95897690, 95897786], [95900154, 95900301], [95902642, 95902778], [95905045, 95905197], [95906118, 95906172], [95906250, 95906347], [95906435, 95906475], [95907404, 95907482]]	[[95893973, 95893997], [95894359, 95894517], [95895008, 95895120], [95897294, 95897429], [95897690, 95897786], [95900154, 95900301], [95902642, 95902778], [95905045, 95905197], [95906118, 95906172], [95906250, 95906347], [95906435, 95906449]]
ENST00000524224	[[95895946, 95896149], [95897294, 95897429], [95897690, 95897786], [95900154, 95900301], [95902642, 95902686]]	[[95896113, 95896149], [95897294, 95897429], [95897690, 95897786], [95900154, 95900301], [95902642, 95902686]]
ENST00000523476	[[95897679, 95897786], [95900154, 95900301], [95902642, 95902778], [95905045, 95905197], [95905734, 95905818]]	None
ENST00000521809	[[95897690, 95897786], [95900154, 95900301], [95902642, 95902778], [95906118, 95906172], [95906250, 95906347], [95906435, 95906475], [95907404, 95907426]]	[[95902715, 95902778], [95906118, 95906172], [95906250, 95906347], [95906435, 95906449]]
ENST00000519889	[[95902740, 95902778], [95905045, 95905197], [95906118, 95906200], [95906250, 95906347], [95906435, 95906475], [95907404, 95907429]]	[[95906125, 95906200], [95906250, 95906347], [95906435, 95906449]]
ENST00000517487	[[95905882, 95906172], [95906250, 95906347], [95906435, 95906878]]	None
NM_057749	[[95892451, 95893973], [95894359, 95894517], [95895008, 95895120], [95897294, 95897429], [95897690, 95897786], [95900154, 95900301], [95902642, 95902778], [95905045, 95905197], [95906118, 95906172], [95906250, 95906347], [95906435, 95906475], [95907404, 95907482]]	[[95893859, 95893973], [95894359, 95894517], [95895008, 95895120], [95897294, 95897429], [95897690, 95897786], [95900154, 95900301], [95902642, 95902778], [95905045, 95905197], [95906118, 95906172], [95906250, 95906347], [95906435, 95906449]]

Promoter

Chrom	Start	End	Description
chr8	95907423	95907435	CAGE_peak_1_at_CCNE2_5end
chr8	95907842	95907853	CAGE_peak_7_at_CCNE2_5end
chr8	95908902	95908927	CAGE_peak_3_at_CCNE2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr8	GH08I094941	94941411	94945013	0.94	[{'connected_gene': 'TP53INP1', 'score': 8.4}, {'connected_gene': 'CCNE2', 'score': 0.25}, {'connected_gene': 'NDUFAF6', 'score': 0.25}]
chr8	GH08I094945	94945473	94945622	0.87	[{'connected_gene': 'TP53INP1', 'score': 0.77}, {'connected_gene': 'CCNE2', 'score': 0.25}, {'connected_gene': 'NDUFAF6', 'score': 0.23}]
chr8	GH08I095020	95020401	95020600	0.63	[{'connected_gene': 'TP53INP1', 'score': 11.94}, {'connected_gene': 'ENSG00000253878', 'score': 11.94}, {'connected_gene': 'CCNE2', 'score': 11.12}, {'connected_gene': 'RNU6-1209P', 'score': 0.29}, {'connected_gene': 'GC08P094978', 'score': 0.26}, {'connected_gene': 'NDUFAF6', 'score': 0.13}]
chr8	GH08I094990	94990401	94991525	1.21	[{'connected_gene': 'TP53INP1', 'score': 11.26}, {'connected_gene': 'ENSG00000253878', 'score': 11.26}, {'connected_gene': 'CCNE2', 'score': 10.74}, {'connected_gene': 'RNU6-1209P', 'score': 10.33}, {'connected_gene': 'GC08P094978', 'score': 0.39}, {'connected_gene': 'NDUFAF6', 'score': 0.15}]
chr8	GH08I094946	94946965	94951642	2.22	[{'connected_gene': 'TP53INP1', 'score': 559.8}, {'connected_gene': 'ENSG00000253878', 'score': 550.77}, {'connected_gene': 'NDUFAF6', 'score': 6.79}, {'connected_gene': 'C8orf37', 'score': 4.52}, {'connected_gene': 'CCNE2', 'score': 0.23}]
chr8	GH08I094914	94914413	94914562	0.46	[{'connected_gene': 'CCNE2', 'score': 0.37}, {'connected_gene': 'NDUFAF6', 'score': 0.37}, {'connected_gene': 'TP53INP1', 'score': 0.29}]
chr8	GH08I094894	94894090	94897648	2.02	[{'connected_gene': 'CCNE2', 'score': 550.77}, {'connected_gene': 'NDUFAF6', 'score': 550.77}, {'connected_gene': 'INTS8', 'score': 34.51}, {'connected_gene': 'VIRMA', 'score': 13.46}, {'connected_gene': 'MIR3150BHG', 'score': 7.44}, {'connected_gene': 'TP53INP1', 'score': 6.69}]
chr8	GH08I095051	95051602	95052800	0.4	[{'connected_gene': 'PLEKHF2', 'score': 10.99}, {'connected_gene': 'CCNE2', 'score': 10.46}, {'connected_gene': 'INTS8', 'score': 5.56}, {'connected_gene': 'RNU6-1209P', 'score': 0.77}, {'connected_gene': 'GC08P094978', 'score': 0.19}, {'connected_gene': 'NDUFAF6', 'score': 0.1}]
chr8	GH08I094822	94822353	94825001	2.01	[{'connected_gene': 'INTS8', 'score': 561.99}, {'connected_gene': 'TP53INP1', 'score': 17.19}, {'connected_gene': 'CCNE2', 'score': 11.3}, {'connected_gene': 'ENSG00000254307', 'score': 11.16}, {'connected_gene': 'ENSG00000253878', 'score': 10.59}, {'connected_gene': 'ESRP1', 'score': 7.95}, {'connected_gene': 'NDUFAF6', 'score': 7.15}, {'connected_gene': 'ENSG00000272509', 'score': 0.21}]
chr8	GH08I094862	94862144	94863711	0.69	[{'connected_gene': 'INTS8', 'score': 23.13}, {'connected_gene': 'TP53INP1', 'score': 16.86}, {'connected_gene': 'CCNE2', 'score': 11.65}, {'connected_gene': 'ENSG00000253878', 'score': 10.63}, {'connected_gene': 'NDUFAF6', 'score': 8.15}, {'connected_gene': 'ENSG00000272509', 'score': 0.34}]
chr8	GH08I094814	94814236	94815523	0.43	[{'connected_gene': 'INTS8', 'score': 567.97}, {'connected_gene': 'ENSG00000254307', 'score': 12.27}, {'connected_gene': 'CCNE2', 'score': 11.49}, {'connected_gene': 'ENSG00000253878', 'score': 10.44}, {'connected_gene': 'TP53INP1', 'score': 10.44}, {'connected_gene': 'ENSG00000272509', 'score': 0.2}]
chr8	GH08I094927	94927837	94931017	0.59	[{'connected_gene': 'INTS8', 'score': 15.08}, {'connected_gene': 'ENSG00000253878', 'score': 12.79}, {'connected_gene': 'CCNE2', 'score': 12.43}, {'connected_gene': 'NDUFAF6', 'score': 12.32}, {'connected_gene': 'ENSG00000254307', 'score': 11.29}, {'connected_gene': 'MIR3150BHG', 'score': 7.93}, {'connected_gene': 'TP53INP1', 'score': 0.37}]
chr8	GH08I094904	94904492	94908047	1.11	[{'connected_gene': 'INTS8', 'score': 63.97}, {'connected_gene': 'VIRMA', 'score': 32.67}, {'connected_gene': 'TP53INP1', 'score': 19.04}, {'connected_gene': 'ENSG00000253878', 'score': 10.99}, {'connected_gene': 'NDUFAF6', 'score': 6.54}, {'connected_gene': 'CCNE2', 'score': 0.44}]
chr8	GH08I095024	95024011	95026352	2.07	[{'connected_gene': 'NDUFAF6', 'score': 550.13}, {'connected_gene': 'TP53INP1', 'score': 18.05}, {'connected_gene': 'MIR3150BHG', 'score': 14.99}, {'connected_gene': 'ENSG00000253878', 'score': 12.22}, {'connected_gene': 'VIRMA', 'score': 11.98}, {'connected_gene': 'CCNE2', 'score': 11.64}, {'connected_gene': 'RNU6-1209P', 'score': 11.12}, {'connected_gene': 'ENSG00000254307', 'score': 10.58}, {'connected_gene': 'INTS8', 'score': 10.07}, {'connected_gene': 'GC08P094978', 'score': 0.25}]
chr8	GH08I094934	94934922	94937595	0.43	[{'connected_gene': 'NDUFAF6', 'score': 7.27}, {'connected_gene': 'INTS8', 'score': 6.89}, {'connected_gene': 'TP53INP1', 'score': 6.12}, {'connected_gene': 'CCNE2', 'score': 0.28}]
chr8	GH08I095010	95010737	95011237	0.31	[{'connected_gene': 'MIR3150BHG', 'score': 14.09}, {'connected_gene': 'ENSG00000253878', 'score': 12.02}, {'connected_gene': 'TP53INP1', 'score': 12.02}, {'connected_gene': 'CCNE2', 'score': 11.88}, {'connected_gene': 'NDUFAF6', 'score': 11.88}, {'connected_gene': 'RAD54B', 'score': 9.34}, {'connected_gene': 'GC08P094978', 'score': 0.29}, {'connected_gene': 'RNU6-1209P', 'score': 0.26}]
chr8	GH08I095021	95020613	95020762	0.59	[{'connected_gene': 'MIR3150BHG', 'score': 15.18}, {'connected_gene': 'TP53INP1', 'score': 11.94}, {'connected_gene': 'ENSG00000253878', 'score': 11.94}, {'connected_gene': 'CCNE2', 'score': 11.12}, {'connected_gene': 'RNU6-1209P', 'score': 0.29}, {'connected_gene': 'GC08P094978', 'score': 0.26}, {'connected_gene': 'NDUFAF6', 'score': 0.13}]
chr8	GH08I095023	95023560	95023736	0.2	[{'connected_gene': 'MIR3150BHG', 'score': 13.88}, {'connected_gene': 'TP53INP1', 'score': 12.23}, {'connected_gene': 'ENSG00000253878', 'score': 12.23}, {'connected_gene': 'CCNE2', 'score': 11.64}, {'connected_gene': 'RNU6-1209P', 'score': 11.12}, {'connected_gene': 'ENSG00000254307', 'score': 10.58}, {'connected_gene': 'GC08P094978', 'score': 0.25}, {'connected_gene': 'NDUFAF6', 'score': 0.13}]
chr8	GH08I094833	94833082	94833891	0.2	[{'connected_gene': 'ENSG00000254307', 'score': 11.85}, {'connected_gene': 'CCNE2', 'score': 11.33}, {'connected_gene': 'TP53INP1', 'score': 9.88}, {'connected_gene': 'ENSG00000253878', 'score': 9.88}, {'connected_gene': 'INTS8', 'score': 8.37}, {'connected_gene': 'ENSG00000272509', 'score': 0.23}]
chr8	GH08I095223	95223053	95227552	1.38	[{'connected_gene': 'ENSG00000254248', 'score': 11.33}, {'connected_gene': 'PLEKHF2', 'score': 11.1}, {'connected_gene': 'CCNE2', 'score': 10.31}, {'connected_gene': 'C8orf37', 'score': 5.46}, {'connected_gene': 'LINC01298', 'score': 0.44}, {'connected_gene': 'C8orf37-AS1', 'score': 0.34}, {'connected_gene': 'TRS-AGA2-5', 'score': 0.26}]