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
ENST00000266718	[[91496405, 91498096], [91501894, 91502777], [91505174, 91505608]]	[[91497941, 91498096], [91501894, 91502756]]
ENST00000548071	[[91497359, 91498096], [91501894, 91502060], [91505174, 91505263]]	None
ENST00000546642	[[91497915, 91498096], [91501894, 91502464], [91505174, 91505216]]	None
NM_002345	[[91497231, 91498096], [91501894, 91502777], [91505174, 91505542]]	[[91497941, 91498096], [91501894, 91502756]]

Promoter

Chrom	Start	End	Description
chr12	91502347	91502368	CAGE_peak_5_at_LUM_5end
chr12	91502618	91502636	CAGE_peak_7_at_LUM_5end
chr12	91502776	91502785	CAGE_peak_15_at_LUM_5end
chr12	91505206	91505228	CAGE_peak_2_at_LUM_5end
chr12	91505237	91505280	CAGE_peak_1_at_LUM_5end
chr12	91505283	91505299	CAGE_peak_3_at_LUM_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr12	GH12I090938	90938272	90939138	0.38	[{'connected_gene': 'LUM', 'score': 9.87}, {'connected_gene': 'PIR60013', 'score': 0.77}, {'connected_gene': 'CCER1', 'score': 0.37}, {'connected_gene': 'LINC00615', 'score': 0.34}]
chr12	GH12I090979	90978001	90978433	0.76	[{'connected_gene': 'LUM', 'score': 12.08}, {'connected_gene': 'CCER1', 'score': 0.34}, {'connected_gene': 'EPYC', 'score': 0.31}]
chr12	GH12I090980	90978574	90978633	0.38	[{'connected_gene': 'LUM', 'score': 12.08}, {'connected_gene': 'CCER1', 'score': 0.34}, {'connected_gene': 'EPYC', 'score': 0.31}]
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	GH12I091357	91357052	91358153	0.62	[{'connected_gene': 'LUM', 'score': 10.42}, {'connected_gene': 'DCN', 'score': 10.18}, {'connected_gene': 'GC12M091347', 'score': 0.44}, {'connected_gene': 'LOC105369898', 'score': 0.44}, {'connected_gene': 'LOC105369897', 'score': 0.29}]
chr12	GH12I091126	91126352	91128645	0.51	[{'connected_gene': 'LUM', 'score': 0.37}, {'connected_gene': 'DCN', 'score': 0.22}]
chr12	GH12I091184	91184797	91186912	0.66	[{'connected_gene': 'LUM', 'score': 10.19}, {'connected_gene': 'DCN', 'score': 0.77}, {'connected_gene': 'ENSG00000258148', 'score': 0.44}]
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	GH12I091215	91215396	91216496	0.46	[{'connected_gene': 'DCN', 'score': 11.2}, {'connected_gene': 'LUM', 'score': 10.19}, {'connected_gene': 'ENSG00000258148', 'score': 0.34}, {'connected_gene': 'LOC105369897', 'score': 0.14}]
chr12	GH12I091216	91216984	91217133	0.2	[{'connected_gene': 'DCN', 'score': 20.77}, {'connected_gene': 'LUM', 'score': 10.19}, {'connected_gene': 'ENSG00000258148', 'score': 0.34}, {'connected_gene': 'LOC105369897', 'score': 0.14}]
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	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}]