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
ENST00000420283	[[116571150, 116575261]]	[[116573926, 116575171]]
NM_021648	[[116571126, 116575261]]	[[116573926, 116575171]]

Promoter

Chrom	Start	End	Description
chr6	116573055	116573066	CAGE_peak_7_at_TSPYL4_5end
chr6	116573074	116573102	CAGE_peak_3_at_TSPYL4_5end
chr6	116574744	116574770	CAGE_peak_5_at_TSPYL4_5end
chr6	116575178	116575189	CAGE_peak_4_at_TSPYL4_5end
chr6	116575226	116575278	CAGE_peak_1_at_TSPYL4_5end
chr6	116575285	116575296	CAGE_peak_2_at_TSPYL4_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr6	GH06I116276	116276400	116281969	2.27	[{'connected_gene': 'TSPYL1', 'score': 561.6}, {'connected_gene': 'ENSG00000240050', 'score': 550.77}, {'connected_gene': 'PIR59102', 'score': 550.77}, {'connected_gene': 'DSE', 'score': 550.31}, {'connected_gene': 'CALHM6', 'score': 16.94}, {'connected_gene': 'TSPYL4', 'score': 13.4}, {'connected_gene': 'CALHM4', 'score': 12.28}, {'connected_gene': 'TRAPPC3L', 'score': 11.41}, {'connected_gene': 'KRT18P22', 'score': 10.64}, {'connected_gene': 'CBX3P9', 'score': 10.64}, {'connected_gene': 'ENSG00000244158', 'score': 10.64}, {'connected_gene': 'ENSG00000234117', 'score': 10.5}, {'connected_gene': 'ZUFSP', 'score': 10.09}, {'connected_gene': 'ENSG00000237021', 'score': 7.73}, {'connected_gene': 'GC06M116283', 'score': 0.77}, {'connected_gene': 'PIR51449', 'score': 0.77}, {'connected_gene': 'GC06M116282', 'score': 0.77}, {'connected_gene': 'GC06P116262', 'score': 0.37}]
chr6	GH06I116679	116679966	116683205	2.28	[{'connected_gene': 'KPNA5', 'score': 552.54}, {'connected_gene': 'GC06M116680', 'score': 550.77}, {'connected_gene': 'DSE', 'score': 15.19}, {'connected_gene': 'ENSG00000240050', 'score': 11.07}, {'connected_gene': 'RWDD1', 'score': 6.14}, {'connected_gene': 'ENSG00000237021', 'score': 5.34}, {'connected_gene': 'CALHM6', 'score': 5.12}, {'connected_gene': 'ZUFSP', 'score': 1.96}, {'connected_gene': 'TSPYL1', 'score': 1.61}, {'connected_gene': 'TSPYL4', 'score': 1.49}, {'connected_gene': 'FAM162B', 'score': 0.18}]
chr6	GH06I116228	116228945	116230024	1.11	[{'connected_gene': 'DSE', 'score': 19.51}, {'connected_gene': 'TSPYL4', 'score': 18.06}, {'connected_gene': 'KPNA5', 'score': 2.9}, {'connected_gene': 'TSPYL1', 'score': 2.72}, {'connected_gene': 'PIR35709', 'score': 0.77}, {'connected_gene': 'GC06P116233', 'score': 0.77}, {'connected_gene': 'GC06P116234', 'score': 0.77}, {'connected_gene': 'COL10A1', 'score': 0.39}, {'connected_gene': 'NT5DC1', 'score': 0.13}]
chr6	GH06I116210	116210498	116211376	0.59	[{'connected_gene': 'DSE', 'score': 11.56}, {'connected_gene': 'TSPYL4', 'score': 6.62}, {'connected_gene': 'COL10A1', 'score': 0.44}, {'connected_gene': 'GC06M116148', 'score': 0.44}, {'connected_gene': 'NT5DC1', 'score': 0.14}]
chr6	GH06I116369	116369458	116375327	2.13	[{'connected_gene': 'DSE', 'score': 576.69}, {'connected_gene': 'CALHM4', 'score': 11.17}, {'connected_gene': 'ENSG00000234117', 'score': 11.02}, {'connected_gene': 'ENSG00000240050', 'score': 8.7}, {'connected_gene': 'TSPYL4', 'score': 6.31}, {'connected_gene': 'FRK', 'score': 4.76}, {'connected_gene': 'RSPH4A', 'score': 4.29}, {'connected_gene': 'PIR33476', 'score': 0.77}, {'connected_gene': 'PIR34878', 'score': 0.21}]
chr6	GH06I116105	116105358	116107267	0.94	[{'connected_gene': 'TSPYL4', 'score': 9.42}, {'connected_gene': 'TSPYL1', 'score': 5.65}, {'connected_gene': 'NT5DC1', 'score': 0.44}, {'connected_gene': 'NIP7P3', 'score': 0.29}]
chr6	GH06I116363	116363401	116364400	0.58	[{'connected_gene': 'TSPYL4', 'score': 11.3}, {'connected_gene': 'CBX3P9', 'score': 10.84}, {'connected_gene': 'KRT18P22', 'score': 10.84}, {'connected_gene': 'CALHM6', 'score': 10.83}, {'connected_gene': 'ENSG00000244158', 'score': 10.83}, {'connected_gene': 'ENSG00000234117', 'score': 10.7}, {'connected_gene': 'TRAPPC3L', 'score': 10.64}, {'connected_gene': 'CALHM4', 'score': 10.41}, {'connected_gene': 'PIR33476', 'score': 0.77}, {'connected_gene': 'PIR51449', 'score': 0.18}, {'connected_gene': 'ENSG00000240050', 'score': 0.18}, {'connected_gene': 'GC06M116282', 'score': 0.18}, {'connected_gene': 'GC06M116283', 'score': 0.18}, {'connected_gene': 'DSE', 'score': 0.14}]
chr6	GH06I116250	116250613	116256466	2.05	[{'connected_gene': 'TSPYL4', 'score': 570.82}, {'connected_gene': 'DSE', 'score': 570.6}, {'connected_gene': 'ENSG00000237021', 'score': 550.77}, {'connected_gene': 'KPNA5', 'score': 20.98}, {'connected_gene': 'ENSG00000234117', 'score': 9.5}, {'connected_gene': 'TSPYL1', 'score': 7.2}, {'connected_gene': 'ENSG00000240050', 'score': 6.67}, {'connected_gene': 'RSPH4A', 'score': 4.57}, {'connected_gene': 'GC06M116250', 'score': 0.77}]
chr6	GH06I116271	116271863	116273867	0.43	[{'connected_gene': 'TSPYL4', 'score': 15.92}, {'connected_gene': 'CALHM4', 'score': 11.63}, {'connected_gene': 'TRAPPC3L', 'score': 10.93}, {'connected_gene': 'ENSG00000234117', 'score': 10.35}, {'connected_gene': 'CBX3P9', 'score': 10.3}, {'connected_gene': 'CALHM6', 'score': 10.3}, {'connected_gene': 'KRT18P22', 'score': 10.3}, {'connected_gene': 'ENSG00000244158', 'score': 10.3}, {'connected_gene': 'TSPYL1', 'score': 10.1}, {'connected_gene': 'PIR59102', 'score': 0.44}, {'connected_gene': 'GC06P116262', 'score': 0.39}, {'connected_gene': 'DSE', 'score': 0.37}]
chr6	GH06I116155	116155750	116155821	0.35	[{'connected_gene': 'TSPYL4', 'score': 1.41}, {'connected_gene': 'NIP7P3', 'score': 0.37}, {'connected_gene': 'GC06M116178', 'score': 0.34}, {'connected_gene': 'GC06M116148', 'score': 0.25}, {'connected_gene': 'NT5DC1', 'score': 0.23}, {'connected_gene': 'COL10A1', 'score': 0.21}]
chr6	GH06I116144	116144411	116145722	0.58	[{'connected_gene': 'TSPYL4', 'score': 4.88}, {'connected_gene': 'NIP7P3', 'score': 0.44}, {'connected_gene': 'GC06M116178', 'score': 0.29}, {'connected_gene': 'NT5DC1', 'score': 0.26}, {'connected_gene': 'COL10A1', 'score': 0.19}]
chr6	GH06I116314	116314801	116315201	0.31	[{'connected_gene': 'TSPYL4', 'score': 13.0}, {'connected_gene': 'TRAPPC3L', 'score': 11.0}, {'connected_gene': 'CALHM4', 'score': 10.78}, {'connected_gene': 'ENSG00000234117', 'score': 10.65}, {'connected_gene': 'PIR51449', 'score': 0.29}, {'connected_gene': 'ENSG00000240050', 'score': 0.29}, {'connected_gene': 'GC06M116282', 'score': 0.29}, {'connected_gene': 'GC06M116283', 'score': 0.29}, {'connected_gene': 'PIR33476', 'score': 0.23}, {'connected_gene': 'DSE', 'score': 0.21}]
chr6	GH06I116098	116098293	116103007	2.27	[{'connected_gene': 'NT5DC1', 'score': 564.45}, {'connected_gene': 'FRK', 'score': 550.77}, {'connected_gene': 'KPNA5', 'score': 43.72}, {'connected_gene': 'COL10A1', 'score': 11.09}, {'connected_gene': 'TSPYL4', 'score': 9.63}, {'connected_gene': 'GC06M116078', 'score': 0.34}]
chr6	GH06I116326	116326946	116328911	0.76	[{'connected_gene': 'ENSG00000237021', 'score': 6.39}, {'connected_gene': 'TSPYL4', 'score': 5.4}, {'connected_gene': 'PIR33476', 'score': 0.28}, {'connected_gene': 'PIR51449', 'score': 0.25}, {'connected_gene': 'ENSG00000240050', 'score': 0.25}, {'connected_gene': 'GC06M116282', 'score': 0.25}, {'connected_gene': 'GC06M116283', 'score': 0.25}, {'connected_gene': 'DSE', 'score': 0.19}]