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
ENST00000416171	[[116850173, 116850353], [116864927, 116865035], [116875447, 116875514], [116878987, 116879751]]	[[116864976, 116865035], [116875447, 116875514], [116878987, 116879374]]
ENST00000368597	[[116850194, 116850353], [116864927, 116865035], [116878987, 116880031]]	[[116878987, 116879374]]
ENST00000452373	[[116850208, 116850298], [116864927, 116865035], [116878987, 116879357]]	[[116878987, 116879357]]
ENST00000405399	[[116850208, 116850353], [116864927, 116865035], [116875353, 116875514], [116878987, 116879738]]	[[116875385, 116875514], [116878987, 116879374]]
ENST00000368596	[[116874912, 116875514], [116878987, 116879738]]	[[116874956, 116875514], [116878987, 116879374]]

Promoter

Chrom	Start	End	Description
chr6	116850191	116850214	CAGE_peak_1_at_FAM26D_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	GH06I116381	116381427	116381699	0.63	[{'connected_gene': 'CBX3P9', 'score': 11.64}, {'connected_gene': 'CALHM6', 'score': 11.63}, {'connected_gene': 'KRT18P22', 'score': 11.63}, {'connected_gene': 'ENSG00000244158', 'score': 11.62}, {'connected_gene': 'CALHM4', 'score': 11.39}, {'connected_gene': 'ENSG00000234117', 'score': 11.04}, {'connected_gene': 'TRAPPC3L', 'score': 10.91}, {'connected_gene': 'PIR33476', 'score': 0.39}, {'connected_gene': 'PIR34878', 'score': 0.23}, {'connected_gene': 'DSE', 'score': 0.13}]
chr6	GH06I116382	116382263	116383426	0.63	[{'connected_gene': 'CBX3P9', 'score': 11.64}, {'connected_gene': 'CALHM6', 'score': 11.63}, {'connected_gene': 'KRT18P22', 'score': 11.63}, {'connected_gene': 'ENSG00000244158', 'score': 11.62}, {'connected_gene': 'CALHM4', 'score': 11.39}, {'connected_gene': 'ENSG00000234117', 'score': 11.05}, {'connected_gene': 'TRAPPC3L', 'score': 10.91}, {'connected_gene': 'PIR33476', 'score': 0.37}, {'connected_gene': 'PIR34878', 'score': 0.23}, {'connected_gene': 'DSE', 'score': 0.13}]
chr6	GH06I116403	116403649	116408100	1.24	[{'connected_gene': 'KRT18P22', 'score': 15.86}, {'connected_gene': 'CALHM4', 'score': 11.3}, {'connected_gene': 'CBX3P9', 'score': 11.08}, {'connected_gene': 'CALHM6', 'score': 11.05}, {'connected_gene': 'ENSG00000244158', 'score': 11.05}, {'connected_gene': 'ENSG00000234117', 'score': 10.48}, {'connected_gene': 'TRAPPC3L', 'score': 10.19}, {'connected_gene': 'DSE', 'score': 9.47}, {'connected_gene': 'PIR34878', 'score': 0.29}, {'connected_gene': 'PIR33476', 'score': 0.28}]
chr6	GH06I116409	116409528	116412601	1.39	[{'connected_gene': 'CALHM6', 'score': 20.89}, {'connected_gene': 'DSE', 'score': 13.07}, {'connected_gene': 'CBX3P9', 'score': 12.09}, {'connected_gene': 'KRT18P22', 'score': 12.08}, {'connected_gene': 'ENSG00000244158', 'score': 12.06}, {'connected_gene': 'CALHM4', 'score': 11.43}, {'connected_gene': 'ENSG00000234117', 'score': 10.8}, {'connected_gene': 'RWDD1', 'score': 5.15}, {'connected_gene': 'PIR34878', 'score': 0.31}, {'connected_gene': 'PIR33476', 'score': 0.26}]
chr6	GH06I116396	116396707	116399776	1.06	[{'connected_gene': 'CALHM6', 'score': 17.88}, {'connected_gene': 'CALHM4', 'score': 11.7}, {'connected_gene': 'CBX3P9', 'score': 11.62}, {'connected_gene': 'KRT18P22', 'score': 11.61}, {'connected_gene': 'ENSG00000244158', 'score': 11.61}, {'connected_gene': 'ENSG00000234117', 'score': 10.36}, {'connected_gene': 'TRAPPC3L', 'score': 10.22}, {'connected_gene': 'DSE', 'score': 7.2}, {'connected_gene': 'CALHM5', 'score': 4.19}, {'connected_gene': 'PIR33476', 'score': 0.29}, {'connected_gene': 'PIR34878', 'score': 0.28}]
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	GH06I116561	116561201	116561711	0.83	[{'connected_gene': 'RSPH4A', 'score': 26.41}, {'connected_gene': 'CALHM6', 'score': 18.89}, {'connected_gene': 'CALHM4', 'score': 11.31}, {'connected_gene': 'ENSG00000234117', 'score': 10.47}, {'connected_gene': 'ENSG00000244158', 'score': 9.87}, {'connected_gene': 'KRT18P22', 'score': 9.86}, {'connected_gene': 'CBX3P9', 'score': 9.85}, {'connected_gene': 'RWDD1', 'score': 0.44}, {'connected_gene': 'TRAPPC3L', 'score': 0.37}]
chr6	GH06I116501	116501201	116501400	0.97	[{'connected_gene': 'RSPH4A', 'score': 14.54}, {'connected_gene': 'CALHM6', 'score': 13.38}, {'connected_gene': 'CALHM4', 'score': 10.69}, {'connected_gene': 'ENSG00000234117', 'score': 0.44}, {'connected_gene': 'CALHM5', 'score': 0.39}, {'connected_gene': 'TRAPPC3L', 'score': 0.26}]
chr6	GH06I116555	116555578	116559225	0.99	[{'connected_gene': 'RSPH4A', 'score': 25.88}, {'connected_gene': 'KPNA5', 'score': 20.55}, {'connected_gene': 'CALHM6', 'score': 19.4}, {'connected_gene': 'CALHM4', 'score': 11.5}, {'connected_gene': 'ENSG00000244158', 'score': 10.28}, {'connected_gene': 'KRT18P22', 'score': 10.28}, {'connected_gene': 'CBX3P9', 'score': 10.27}, {'connected_gene': 'ENSG00000234117', 'score': 9.76}, {'connected_gene': 'CALHM5', 'score': 9.21}, {'connected_gene': 'TRAPPC3L', 'score': 8.04}, {'connected_gene': 'RWDD1', 'score': 0.39}]
chr6	GH06I116562	116562392	116563253	0.8	[{'connected_gene': 'RSPH4A', 'score': 11.57}, {'connected_gene': 'CALHM4', 'score': 11.31}, {'connected_gene': 'ENSG00000234117', 'score': 10.46}, {'connected_gene': 'CALHM6', 'score': 8.7}, {'connected_gene': 'RWDD1', 'score': 0.44}, {'connected_gene': 'TRAPPC3L', 'score': 0.37}]
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	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	GH06I116564	116564801	116565600	0.31	[{'connected_gene': 'CALHM5', 'score': 11.7}, {'connected_gene': 'RSPH4A', 'score': 11.58}, {'connected_gene': 'CALHM4', 'score': 11.29}, {'connected_gene': 'ENSG00000234117', 'score': 10.46}, {'connected_gene': 'RWDD1', 'score': 0.44}, {'connected_gene': 'TRAPPC3L', 'score': 0.37}]
chr6	GH06I116510	116510958	116513533	1.87	[{'connected_gene': 'CALHM5', 'score': 563.08}, {'connected_gene': 'TRAPPC3L', 'score': 10.59}, {'connected_gene': 'CALHM6', 'score': 8.81}, {'connected_gene': 'RWDD1', 'score': 5.65}, {'connected_gene': 'CALHM4', 'score': 0.37}]
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	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	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	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	GH06I116268	116268201	116269000	1.1	[{'connected_gene': 'CALHM4', 'score': 11.62}, {'connected_gene': 'KPNA5', 'score': 11.13}, {'connected_gene': 'TRAPPC3L', 'score': 10.41}, {'connected_gene': 'CBX3P9', 'score': 10.3}, {'connected_gene': 'CALHM6', 'score': 10.3}, {'connected_gene': 'KRT18P22', 'score': 10.3}, {'connected_gene': 'ENSG00000244158', 'score': 10.29}, {'connected_gene': 'ENSG00000234117', 'score': 10.06}, {'connected_gene': 'ENSG00000237021', 'score': 6.23}, {'connected_gene': 'GC06P116262', 'score': 0.44}, {'connected_gene': 'PIR59102', 'score': 0.39}, {'connected_gene': 'DSE', 'score': 0.39}]
chr6	GH06I116528	116528127	116529894	1.29	[{'connected_gene': 'CALHM4', 'score': 550.77}, {'connected_gene': 'RSPH4A', 'score': 15.0}, {'connected_gene': 'ENSG00000237021', 'score': 12.01}, {'connected_gene': 'CALHM6', 'score': 9.24}, {'connected_gene': 'CALHM5', 'score': 7.4}, {'connected_gene': 'TRAPPC3L', 'score': 0.37}]
chr6	GH06I116375	116375530	116377225	0.43	[{'connected_gene': 'CALHM4', 'score': 11.18}, {'connected_gene': 'ENSG00000234117', 'score': 11.02}, {'connected_gene': 'PIR33476', 'score': 0.44}, {'connected_gene': 'PIR34878', 'score': 0.22}, {'connected_gene': 'DSE', 'score': 0.13}]
chr6	GH06I116352	116352286	116353556	0.89	[{'connected_gene': 'CALHM4', 'score': 10.9}, {'connected_gene': 'ENSG00000234117', 'score': 10.7}, {'connected_gene': 'ENSG00000237021', 'score': 5.6}, {'connected_gene': 'PIR33476', 'score': 0.39}, {'connected_gene': 'PIR51449', 'score': 0.19}, {'connected_gene': 'ENSG00000240050', 'score': 0.19}, {'connected_gene': 'GC06M116282', 'score': 0.19}, {'connected_gene': 'GC06M116283', 'score': 0.19}, {'connected_gene': 'DSE', 'score': 0.15}]
chr6	GH06I116287	116287778	116287927	0.6	[{'connected_gene': 'CALHM4', 'score': 12.28}, {'connected_gene': 'TRAPPC3L', 'score': 11.41}, {'connected_gene': 'CBX3P9', 'score': 10.65}, {'connected_gene': 'ENSG00000244158', 'score': 10.64}, {'connected_gene': 'CALHM6', 'score': 10.64}, {'connected_gene': 'KRT18P22', 'score': 10.64}, {'connected_gene': 'ENSG00000234117', 'score': 10.51}, {'connected_gene': 'PIR51449', 'score': 0.44}, {'connected_gene': 'ENSG00000240050', 'score': 0.44}, {'connected_gene': 'GC06M116282', 'score': 0.44}, {'connected_gene': 'GC06M116283', 'score': 0.44}, {'connected_gene': 'DSE', 'score': 0.29}, {'connected_gene': 'PIR33476', 'score': 0.18}]
chr6	GH06I116445	116445000	116445401	0.43	[{'connected_gene': 'CALHM4', 'score': 11.92}, {'connected_gene': 'ENSG00000234117', 'score': 11.05}, {'connected_gene': 'TRAPPC3L', 'score': 10.95}, {'connected_gene': 'PIR34878', 'score': 0.44}, {'connected_gene': 'CBX3P9', 'score': 0.44}]
chr6	GH06I116264	116264821	116265530	0.38	[{'connected_gene': 'CALHM4', 'score': 10.89}, {'connected_gene': 'ENSG00000234117', 'score': 10.64}, {'connected_gene': 'TRAPPC3L', 'score': 10.44}, {'connected_gene': 'RSPH4A', 'score': 4.4}, {'connected_gene': 'GC06P116262', 'score': 0.77}, {'connected_gene': 'DSE', 'score': 0.39}, {'connected_gene': 'PIR59102', 'score': 0.39}]
chr6	GH06I116536	116536200	116536601	0.88	[{'connected_gene': 'CALHM4', 'score': 0.44}, {'connected_gene': 'TRAPPC3L', 'score': 0.44}]
chr6	GH06I116539	116539698	116539757	0.5	[{'connected_gene': 'CALHM4', 'score': 550.39}, {'connected_gene': 'TRAPPC3L', 'score': 0.44}]
chr6	GH06I116545	116545601	116545800	0.88	[{'connected_gene': 'TRAPPC3L', 'score': 550.77}, {'connected_gene': 'CALHM6', 'score': 7.41}, {'connected_gene': 'CALHM4', 'score': 0.37}, {'connected_gene': 'RWDD1', 'score': 0.31}]
chr6	GH06I116425	116425946	116427758	0.2	[{'connected_gene': 'ENSG00000234117', 'score': 11.26}, {'connected_gene': 'CBX3P9', 'score': 11.2}, {'connected_gene': 'CALHM6', 'score': 11.18}, {'connected_gene': 'KRT18P22', 'score': 11.18}, {'connected_gene': 'ENSG00000244158', 'score': 11.17}, {'connected_gene': 'CALHM4', 'score': 10.81}, {'connected_gene': 'PIR34878', 'score': 0.44}, {'connected_gene': 'PIR33476', 'score': 0.22}, {'connected_gene': 'DSE', 'score': 0.09}]
chr6	GH06I116513	116513578	116513727	0.38	[{'connected_gene': 'ENSG00000234117', 'score': 11.62}, {'connected_gene': 'TRAPPC3L', 'score': 10.59}, {'connected_gene': 'CALHM5', 'score': 0.77}, {'connected_gene': 'CALHM4', 'score': 0.37}]