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
ENST00000368608	[[116597740, 116601066]]	[[116599679, 116600993]]
NM_003309	[[116596021, 116601280]]	[[116599679, 116600993]]

Promoter

Chrom	Start	End	Description
chr6	116599069	116599070	CAGE_peak_2_at_TSPYL1_5end
chr6	116600493	116600510	CAGE_peak_3_at_TSPYL1_5end
chr6	116601000	116601011	CAGE_peak_4_at_TSPYL1_5end
chr6	116601044	116601106	CAGE_peak_1_at_TSPYL1_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	GH06I116323	116323998	116324127	0.38	[{'connected_gene': 'TSPYL1', 'score': 11.27}, {'connected_gene': 'PIR33476', 'score': 0.26}, {'connected_gene': 'PIR51449', 'score': 0.26}, {'connected_gene': 'GC06M116283', 'score': 0.26}, {'connected_gene': 'GC06M116282', 'score': 0.26}, {'connected_gene': 'ENSG00000240050', 'score': 0.26}, {'connected_gene': 'DSE', 'score': 0.2}]
chr6	GH06I116461	116461418	116465890	2.17	[{'connected_gene': 'CALHM6', 'score': 591.71}, {'connected_gene': 'ENSG00000244158', 'score': 550.77}, {'connected_gene': 'DSE', 'score': 17.73}, {'connected_gene': 'ENSG00000234117', 'score': 13.13}, {'connected_gene': 'TRAPPC3L', 'score': 10.73}, {'connected_gene': 'RWDD1', 'score': 7.73}, {'connected_gene': 'TSPYL1', 'score': 5.86}, {'connected_gene': 'ZUFSP', 'score': 2.58}]
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	GH06I116384	116384602	116394310	1.61	[{'connected_gene': 'DSE', 'score': 27.88}, {'connected_gene': 'CALHM6', 'score': 24.21}, {'connected_gene': 'CALHM4', 'score': 11.7}, {'connected_gene': 'CBX3P9', 'score': 11.66}, {'connected_gene': 'KRT18P22', 'score': 11.65}, {'connected_gene': 'ENSG00000244158', 'score': 11.64}, {'connected_gene': 'ENSG00000234117', 'score': 11.05}, {'connected_gene': 'TRAPPC3L', 'score': 10.92}, {'connected_gene': 'ENSG00000240050', 'score': 6.28}, {'connected_gene': 'TSPYL1', 'score': 5.83}, {'connected_gene': 'CALHM5', 'score': 4.03}, {'connected_gene': 'ZUFSP', 'score': 2.59}, {'connected_gene': 'PIR33476', 'score': 0.34}, {'connected_gene': 'PIR34878', 'score': 0.25}]
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	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	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	GH06I116418	116418778	116419849	0.58	[{'connected_gene': 'CALHM4', 'score': 11.33}, {'connected_gene': 'CBX3P9', 'score': 11.3}, {'connected_gene': 'KRT18P22', 'score': 11.28}, {'connected_gene': 'CALHM6', 'score': 11.27}, {'connected_gene': 'ENSG00000244158', 'score': 11.27}, {'connected_gene': 'DSE', 'score': 10.72}, {'connected_gene': 'ENSG00000234117', 'score': 10.71}, {'connected_gene': 'TSPYL1', 'score': 5.17}, {'connected_gene': 'PIR34878', 'score': 0.37}, {'connected_gene': 'PIR33476', 'score': 0.23}]
chr6	GH06I116249	116249601	116249800	0.31	[{'connected_gene': 'GC06M116250', 'score': 550.77}, {'connected_gene': 'ENSG00000234117', 'score': 9.5}, {'connected_gene': 'TSPYL1', 'score': 6.49}, {'connected_gene': 'ENSG00000236326', 'score': 0.77}]
chr6	GH06I116365	116365576	116366890	0.4	[{'connected_gene': 'PIR33476', 'score': 550.77}, {'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': 'TRAPPC3L', 'score': 10.64}, {'connected_gene': 'ENSG00000234117', 'score': 10.52}, {'connected_gene': 'TSPYL1', 'score': 9.69}, {'connected_gene': 'PIR51449', 'score': 0.18}, {'connected_gene': 'GC06M116282', 'score': 0.18}, {'connected_gene': 'GC06M116283', 'score': 0.18}, {'connected_gene': 'ENSG00000240050', 'score': 0.17}, {'connected_gene': 'DSE', 'score': 0.14}]