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
ENST00000366641	[[231499496, 231502221], [231503314, 231503382], [231506307, 231506444], [231509725, 231509845], [231556743, 231560790]]	[[231502156, 231502221], [231503314, 231503382], [231506307, 231506444], [231509725, 231509845], [231556743, 231557634]]
ENST00000476717	[[231501885, 231502221], [231503314, 231503382], [231506307, 231506444], [231509725, 231509845], [231555921, 231556089]]	None
NM_022051	[[231499496, 231502221], [231503314, 231503382], [231506307, 231506444], [231509725, 231509845], [231556743, 231560790]]	[[231502156, 231502221], [231503314, 231503382], [231506307, 231506444], [231509725, 231509845], [231556743, 231557634]]

Promoter

Chrom	Start	End	Description
chr1	231556813	231556850	CAGE_peak_4_at_EGLN1_5end
chr1	231556892	231556911	CAGE_peak_7_at_EGLN1_5end
chr1	231557258	231557280	CAGE_peak_9_at_EGLN1_5end
chr1	231557409	231557418	CAGE_peak_23_at_EGLN1_5end
chr1	231558007	231558061	CAGE_peak_1_at_EGLN1_5end
chr1	231558071	231558082	CAGE_peak_2_at_EGLN1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I231333	231333800	231341097	2.29	[{'connected_gene': 'SPRTN', 'score': 567.65}, {'connected_gene': 'EXOC8', 'score': 550.77}, {'connected_gene': 'PIR33664', 'score': 550.77}, {'connected_gene': 'C1orf131', 'score': 12.82}, {'connected_gene': 'LINC00582', 'score': 10.38}, {'connected_gene': 'EGLN1', 'score': 10.16}, {'connected_gene': 'DISC1', 'score': 10.04}, {'connected_gene': 'GC01P231312', 'score': 0.31}]
chr1	GH01I231460	231460735	231460884	0.76	[{'connected_gene': 'SNRPD2P2', 'score': 0.37}, {'connected_gene': 'EGLN1', 'score': 0.28}]
chr1	GH01I231418	231418000	231423944	2.32	[{'connected_gene': 'EGLN1', 'score': 561.46}, {'connected_gene': 'SPRTN', 'score': 15.88}, {'connected_gene': 'COG2', 'score': 13.14}, {'connected_gene': 'C1orf131', 'score': 12.76}, {'connected_gene': 'PIR59803', 'score': 0.22}]
chr1	GH01I231393	231393211	231397206	1.34	[{'connected_gene': 'EGLN1', 'score': 20.43}, {'connected_gene': 'SPRTN', 'score': 18.67}, {'connected_gene': 'C1orf131', 'score': 15.83}, {'connected_gene': 'COG2', 'score': 10.84}, {'connected_gene': 'EXOC8', 'score': 10.4}, {'connected_gene': 'GNPAT', 'score': 4.84}, {'connected_gene': 'PIR59803', 'score': 0.31}]
chr1	GH01I231392	231392801	231393000	0.66	[{'connected_gene': 'EGLN1', 'score': 12.29}, {'connected_gene': 'SPRTN', 'score': 7.86}, {'connected_gene': 'PIR59803', 'score': 0.31}]
chr1	GH01I231407	231407116	231409023	1.19	[{'connected_gene': 'EGLN1', 'score': 11.04}, {'connected_gene': 'SPRTN', 'score': 7.22}, {'connected_gene': 'PIR59803', 'score': 0.26}]
chr1	GH01I231376	231376801	231377000	0.72	[{'connected_gene': 'EGLN1', 'score': 10.8}, {'connected_gene': 'TRIM67', 'score': 10.52}, {'connected_gene': 'LINC00582', 'score': 9.77}, {'connected_gene': 'DISC1', 'score': 9.58}, {'connected_gene': 'SPRTN', 'score': 7.92}, {'connected_gene': 'PIR59803', 'score': 0.39}]
chr1	GH01I231512	231512150	231513109	0.98	[{'connected_gene': 'EGLN1', 'score': 11.1}, {'connected_gene': 'DISC1', 'score': 9.75}, {'connected_gene': 'GC01P231515', 'score': 0.77}, {'connected_gene': 'GC01M231493', 'score': 0.37}]
chr1	GH01I231373	231373866	231374219	0.31	[{'connected_gene': 'EGLN1', 'score': 11.14}, {'connected_gene': 'DISC1', 'score': 10.15}, {'connected_gene': 'PIR59803', 'score': 0.44}]
chr1	GH01I231370	231370445	231370823	0.2	[{'connected_gene': 'EGLN1', 'score': 11.67}, {'connected_gene': 'LINC00582', 'score': 10.45}, {'connected_gene': 'SPRTN', 'score': 7.93}, {'connected_gene': 'PIR59803', 'score': 0.44}]
chr1	GH01I231351	231351223	231352878	0.51	[{'connected_gene': 'EGLN1', 'score': 19.67}, {'connected_gene': 'LINC00582', 'score': 10.63}, {'connected_gene': 'DISC1', 'score': 10.3}, {'connected_gene': 'SPRTN', 'score': 9.06}, {'connected_gene': 'PIR59803', 'score': 0.39}, {'connected_gene': 'EXOC8', 'score': 0.39}, {'connected_gene': 'GC01P231312', 'score': 0.28}]
chr1	GH01I231384	231384908	231385822	0.7	[{'connected_gene': 'EGLN1', 'score': 12.2}, {'connected_gene': 'LINC00582', 'score': 10.15}, {'connected_gene': 'DISC1', 'score': 9.88}, {'connected_gene': 'SPRTN', 'score': 8.07}, {'connected_gene': 'PIR59803', 'score': 0.37}]
chr1	GH01I231387	231387669	231389000	1.16	[{'connected_gene': 'EGLN1', 'score': 12.2}, {'connected_gene': 'LINC00582', 'score': 10.15}, {'connected_gene': 'DISC1', 'score': 9.88}, {'connected_gene': 'SPRTN', 'score': 8.52}, {'connected_gene': 'PIR59803', 'score': 0.34}]
chr1	GH01I231409	231409210	231409719	0.43	[{'connected_gene': 'EGLN1', 'score': 0.37}, {'connected_gene': 'PIR59803', 'score': 0.26}]
chr1	GH01I231405	231405601	231405800	0.2	[{'connected_gene': 'EGLN1', 'score': 0.37}, {'connected_gene': 'PIR59803', 'score': 0.26}]
chr1	GH01I231406	231406080	231406609	0.2	[{'connected_gene': 'EGLN1', 'score': 11.03}, {'connected_gene': 'PIR59803', 'score': 0.26}]
chr1	GH01I231414	231414801	231415000	0.89	[{'connected_gene': 'EGLN1', 'score': 0.39}, {'connected_gene': 'PIR59803', 'score': 0.25}]
chr1	GH01I231410	231410200	231410401	0.66	[{'connected_gene': 'EGLN1', 'score': 11.09}, {'connected_gene': 'PIR59803', 'score': 0.26}]
chr1	GH01I231599	231599691	231602307	0.82	[{'connected_gene': 'DISC1', 'score': 21.75}, {'connected_gene': 'TSNAX', 'score': 10.81}, {'connected_gene': 'ENSG00000233461', 'score': 10.81}, {'connected_gene': 'EGLN1', 'score': 10.21}, {'connected_gene': 'GC01P231590', 'score': 0.39}, {'connected_gene': 'GC01P231591', 'score': 0.39}, {'connected_gene': 'LINC00582', 'score': 0.39}, {'connected_gene': 'TSNAX-DISC1', 'score': 0.19}, {'connected_gene': 'GC01P231515', 'score': 0.17}]
chr1	GH01I231683	231683801	231684001	0.38	[{'connected_gene': 'DISC1', 'score': 11.61}, {'connected_gene': 'LINC00582', 'score': 10.42}, {'connected_gene': 'EGLN1', 'score': 9.42}, {'connected_gene': 'GC01P231693', 'score': 0.44}, {'connected_gene': 'RNU5A-5P', 'score': 0.39}, {'connected_gene': 'TSNAX-DISC1', 'score': 0.1}]
chr1	GH01I231684	231684535	231684684	0.31	[{'connected_gene': 'DISC1', 'score': 11.61}, {'connected_gene': 'LINC00582', 'score': 10.42}, {'connected_gene': 'EGLN1', 'score': 9.42}, {'connected_gene': 'GC01P231693', 'score': 0.44}, {'connected_gene': 'RNU5A-5P', 'score': 0.39}, {'connected_gene': 'TSNAX-DISC1', 'score': 0.1}]
chr1	GH01I231389	231389431	231391713	0.92	[{'connected_gene': 'C1orf131', 'score': 14.37}, {'connected_gene': 'EGLN1', 'score': 12.29}, {'connected_gene': 'COG2', 'score': 10.49}, {'connected_gene': 'SPRTN', 'score': 7.87}, {'connected_gene': 'PIR59803', 'score': 0.31}]
chr1	GH01I231603	231603551	231604764	1.08	[{'connected_gene': 'C1orf131', 'score': 25.93}, {'connected_gene': 'DISC1', 'score': 17.38}, {'connected_gene': 'EGLN1', 'score': 10.3}, {'connected_gene': 'COG2', 'score': 9.83}, {'connected_gene': 'GNPAT', 'score': 9.79}, {'connected_gene': 'SPRTN', 'score': 4.86}, {'connected_gene': 'LINC00582', 'score': 0.44}, {'connected_gene': 'GC01P231590', 'score': 0.39}, {'connected_gene': 'GC01P231591', 'score': 0.39}, {'connected_gene': 'TSNAX-DISC1', 'score': 0.18}]
chr1	GH01I231585	231585002	231585315	0.39	[{'connected_gene': 'LINC00582', 'score': 11.71}, {'connected_gene': 'EGLN1', 'score': 11.33}, {'connected_gene': 'DISC1', 'score': 7.34}, {'connected_gene': 'TSNAX', 'score': 2.71}, {'connected_gene': 'GC01P231590', 'score': 0.44}, {'connected_gene': 'GC01P231591', 'score': 0.44}, {'connected_gene': 'TSNAX-DISC1', 'score': 0.22}, {'connected_gene': 'GC01P231515', 'score': 0.2}]
chr1	GH01I231583	231583938	231584719	0.85	[{'connected_gene': 'LINC00582', 'score': 11.71}, {'connected_gene': 'EGLN1', 'score': 11.33}, {'connected_gene': 'GC01P231590', 'score': 0.44}, {'connected_gene': 'GC01P231591', 'score': 0.44}, {'connected_gene': 'TSNAX-DISC1', 'score': 0.22}, {'connected_gene': 'TSNAX', 'score': 0.22}, {'connected_gene': 'GC01P231515', 'score': 0.2}]
chr1	GH01I231366	231366118	231366680	0.2	[{'connected_gene': 'PIR59803', 'score': 550.77}, {'connected_gene': 'EGLN1', 'score': 11.66}, {'connected_gene': 'LINC00582', 'score': 10.45}, {'connected_gene': 'SPRTN', 'score': 7.33}]
chr1	GH01I231590	231590715	231590724	0.67	[{'connected_gene': 'GC01P231590', 'score': 550.77}, {'connected_gene': 'GC01P231591', 'score': 550.77}, {'connected_gene': 'LINC00582', 'score': 11.74}, {'connected_gene': 'EGLN1', 'score': 11.33}, {'connected_gene': 'TSNAX-DISC1', 'score': 0.21}, {'connected_gene': 'GC01P231515', 'score': 0.18}]