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
ENST00000266719	[[91444267, 91445295], [91449172, 91450066], [91451520, 91451760]]	[[91445122, 91445295], [91449172, 91450058]]
NM_007035	[[91444267, 91445295], [91449172, 91450066], [91451520, 91452131]]	[[91445122, 91445295], [91449172, 91450058]]

Promoter

Chrom	Start	End	Description
chr12	91451547	91451586	CAGE_peak_3_at_KERA_5end
chr12	91451645	91451650	CAGE_peak_8_at_KERA_5end
chr12	91451664	91451673	CAGE_peak_5_at_KERA_5end
chr12	91451681	91451706	CAGE_peak_1_at_KERA_5end
chr12	91451707	91451716	CAGE_peak_6_at_KERA_5end
chr12	91451725	91451736	CAGE_peak_4_at_KERA_5end
chr12	91451758	91451763	CAGE_peak_7_at_KERA_5end
chr12	91451794	91451806	CAGE_peak_2_at_KERA_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr12	GH12I091137	91137887	91143694	1.4	[{'connected_gene': 'LUM', 'score': 11.4}, {'connected_gene': 'DCN', 'score': 11.32}, {'connected_gene': 'KERA', 'score': 10.58}, {'connected_gene': 'LOC105369897', 'score': 6.67}]
chr12	GH12I091108	91108590	91112465	1.97	[{'connected_gene': 'LUM', 'score': 550.77}, {'connected_gene': 'KERA', 'score': 6.94}, {'connected_gene': 'GC12P091066', 'score': 0.25}]
chr12	GH12I091073	91073496	91075155	0.58	[{'connected_gene': 'LUM', 'score': 10.55}, {'connected_gene': 'KERA', 'score': 5.85}, {'connected_gene': 'GC12P091066', 'score': 0.44}]
chr12	GH12I091009	91009424	91009573	0.72	[{'connected_gene': 'EPYC', 'score': 550.77}, {'connected_gene': 'KERA', 'score': 10.32}]
chr12	GH12I091175	91175010	91184708	2.03	[{'connected_gene': 'DCN', 'score': 550.77}, {'connected_gene': 'KERA', 'score': 14.63}, {'connected_gene': 'LUM', 'score': 10.22}, {'connected_gene': 'LOC105369897', 'score': 7.09}]
chr12	GH12I091122	91122481	91124846	0.31	[{'connected_gene': 'DCN', 'score': 11.49}, {'connected_gene': 'KERA', 'score': 10.53}, {'connected_gene': 'LUM', 'score': 0.39}]
chr12	GH12I090986	90986764	90987975	0.31	[{'connected_gene': 'KERA', 'score': 16.68}, {'connected_gene': 'LUM', 'score': 10.86}, {'connected_gene': 'EPYC', 'score': 0.34}, {'connected_gene': 'CCER1', 'score': 0.29}]
chr12	GH12I090989	90989787	90990836	0.31	[{'connected_gene': 'KERA', 'score': 11.14}, {'connected_gene': 'LUM', 'score': 10.8}, {'connected_gene': 'EPYC', 'score': 0.37}, {'connected_gene': 'CCER1', 'score': 0.28}]
chr12	GH12I090978	90978656	90981300	0.31	[{'connected_gene': 'KERA', 'score': 16.29}, {'connected_gene': 'LUM', 'score': 11.65}, {'connected_gene': 'EPYC', 'score': 11.29}, {'connected_gene': 'CCER1', 'score': 0.34}]
chr12	GH12I091132	91132786	91134645	0.51	[{'connected_gene': 'KERA', 'score': 5.55}, {'connected_gene': 'LUM', 'score': 0.34}, {'connected_gene': 'DCN', 'score': 0.25}]
chr12	GH12I091100	91100214	91100609	0.2	[{'connected_gene': 'KERA', 'score': 15.4}, {'connected_gene': 'EPYC', 'score': 10.34}, {'connected_gene': 'LUM', 'score': 0.39}, {'connected_gene': 'GC12P091066', 'score': 0.28}]
chr12	GH12I091098	91098239	91100133	1	[{'connected_gene': 'KERA', 'score': 18.69}, {'connected_gene': 'EPYC', 'score': 10.82}, {'connected_gene': 'LUM', 'score': 0.39}, {'connected_gene': 'GC12P091066', 'score': 0.29}]
chr12	GH12I091036	91036623	91038661	0.2	[{'connected_gene': 'KERA', 'score': 11.56}, {'connected_gene': 'EPYC', 'score': 11.47}, {'connected_gene': 'DCN', 'score': 9.73}]
chr12	GH12I091023	91023444	91023593	0.43	[{'connected_gene': 'KERA', 'score': 11.48}, {'connected_gene': 'EPYC', 'score': 0.37}]
chr12	GH12I091053	91053210	91058397	1.08	[{'connected_gene': 'KERA', 'score': 556.34}, {'connected_gene': 'EPYC', 'score': 0.25}]
chr12	GH12I091017	91017209	91018061	0.2	[{'connected_gene': 'KERA', 'score': 18.1}, {'connected_gene': 'EPYC', 'score': 0.44}]
chr12	GH12I091171	91171407	91174103	0.51	[{'connected_gene': 'KERA', 'score': 15.14}, {'connected_gene': 'LOC105369897', 'score': 7.07}, {'connected_gene': 'DCN', 'score': 0.39}, {'connected_gene': 'LUM', 'score': 0.21}]
chr12	GH12I091058	91058680	91060541	0.4	[{'connected_gene': 'KERA', 'score': 556.13}, {'connected_gene': 'GC12P091066', 'score': 0.44}]
chr12	GH12I091325	91325432	91328990	0.8	[{'connected_gene': 'LOC105369897', 'score': 558.74}, {'connected_gene': 'KERA', 'score': 9.65}, {'connected_gene': 'GC12M091347', 'score': 0.34}, {'connected_gene': 'LOC105369898', 'score': 0.28}]