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
ENST00000485498	[[116956780, 116957042], [116966876, 116967421]]	None
ENST00000368576	[[116956780, 116957042], [116966876, 116967097], [116968621, 116968773], [116972734, 116972900], [116973166, 116973355], [116977846, 116978015], [116979965, 116980087], [116981898, 116982009], [116987796, 116988370], [116989728, 116989957]]	[[116956994, 116957042], [116966876, 116967097], [116968621, 116968773], [116972734, 116972900], [116973166, 116973355], [116977846, 116978015], [116979965, 116980087], [116981898, 116982009], [116987796, 116988355]]
ENST00000471919	[[116973166, 116973355], [116977846, 116978015], [116979965, 116980087], [116981395, 116981532], [116981898, 116982009], [116987796, 116988075], [116989728, 116989957]]	None
ENST00000368573	[[116973166, 116973355], [116979965, 116980087], [116981898, 116982009], [116987796, 116988370], [116989728, 116989957]]	[[116973304, 116973355], [116979965, 116980087], [116981898, 116982009], [116987796, 116988355]]

Promoter

Chrom	Start	End	Description
chr6	116989837	116989843	CAGE_peak_2_at_ZUFSP_5end
chr6	116989916	116989979	CAGE_peak_1_at_ZUFSP_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	GH06I116456	116456989	116457206	0.43	[{'connected_gene': 'KRT18P22', 'score': 550.77}, {'connected_gene': 'CALHM6', 'score': 36.03}, {'connected_gene': 'DSE', 'score': 3.16}, {'connected_gene': 'ZUFSP', 'score': 2.15}, {'connected_gene': 'CBX3P9', 'score': 0.77}]
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	GH06I116450	116450801	116451820	1.12	[{'connected_gene': 'CALHM6', 'score': 35.31}, {'connected_gene': 'ENSG00000234117', 'score': 11.48}, {'connected_gene': 'CALHM4', 'score': 11.14}, {'connected_gene': 'RSPH4A', 'score': 8.04}, {'connected_gene': 'DSE', 'score': 5.8}, {'connected_gene': 'ZUFSP', 'score': 2.35}, {'connected_gene': 'CBX3P9', 'score': 0.77}, {'connected_gene': 'PIR34878', 'score': 0.37}]
chr6	GH06I116446	116446123	116448407	1.1	[{'connected_gene': 'CALHM6', 'score': 25.71}, {'connected_gene': 'CALHM4', 'score': 11.83}, {'connected_gene': 'ENSG00000234117', 'score': 11.46}, {'connected_gene': 'DSE', 'score': 7.43}, {'connected_gene': 'ZUFSP', 'score': 2.73}, {'connected_gene': 'CBX3P9', 'score': 0.44}, {'connected_gene': 'PIR34878', 'score': 0.39}]
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	GH06I116615	116615801	116617009	1.93	[{'connected_gene': 'RSPH4A', 'score': 564.85}, {'connected_gene': 'ENSG00000240050', 'score': 24.53}, {'connected_gene': 'DSE', 'score': 12.6}, {'connected_gene': 'CBX3P9', 'score': 10.52}, {'connected_gene': 'RWDD1', 'score': 5.89}, {'connected_gene': 'GC06P116597', 'score': 0.37}, {'connected_gene': 'ZUFSP', 'score': 0.23}]
chr6	GH06I116630	116630856	116632826	0.95	[{'connected_gene': 'RSPH4A', 'score': 14.79}, {'connected_gene': 'TRAPPC3L', 'score': 11.01}, {'connected_gene': 'KPNA5', 'score': 10.62}, {'connected_gene': 'CALHM4', 'score': 10.28}, {'connected_gene': 'GC06P116597', 'score': 0.29}, {'connected_gene': 'ZUFSP', 'score': 0.28}]
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	GH06I116424	116424079	116424322	0.68	[{'connected_gene': 'DSE', 'score': 23.28}, {'connected_gene': 'CALHM6', 'score': 18.16}, {'connected_gene': 'CALHM4', 'score': 11.32}, {'connected_gene': 'CBX3P9', 'score': 10.87}, {'connected_gene': 'KRT18P22', 'score': 10.85}, {'connected_gene': 'ENSG00000244158', 'score': 10.84}, {'connected_gene': 'TRAPPC3L', 'score': 10.48}, {'connected_gene': 'ENSG00000234117', 'score': 10.32}, {'connected_gene': 'ZUFSP', 'score': 2.74}, {'connected_gene': 'PIR34878', 'score': 0.39}, {'connected_gene': 'PIR33476', 'score': 0.22}]
chr6	GH06I116665	116665596	116669407	2.25	[{'connected_gene': 'ZUFSP', 'score': 563.24}, {'connected_gene': 'CALHM5', 'score': 7.39}, {'connected_gene': 'KPNA5', 'score': 6.8}, {'connected_gene': 'RWDD1', 'score': 6.3}, {'connected_gene': 'DSE', 'score': 1.12}, {'connected_gene': 'GC06P116597', 'score': 0.2}]