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
ENST00000366816	[[226249551, 226249795], [226250435, 226250512], [226252029, 226252180], [226253356, 226253510], [226259051, 226259224]]	[[226252052, 226252180], [226253356, 226253510], [226259051, 226259180]]
ENST00000366815	[[226250378, 226250512], [226252029, 226252180], [226253356, 226253510], [226259051, 226259700]]	[[226252052, 226252180], [226253356, 226253510], [226259051, 226259180]]
ENST00000366814	[[226250414, 226250512], [226252029, 226252180], [226253356, 226254970]]	[[226252052, 226252180], [226253356, 226253600]]
ENST00000366813	[[226251677, 226252180], [226253356, 226253510], [226259051, 226259702]]	[[226252052, 226252180], [226253356, 226253510], [226259051, 226259180]]
NM_002107	[[226250407, 226250512], [226252029, 226252180], [226253356, 226253510], [226259051, 226259703]]	[[226252052, 226252180], [226253356, 226253510], [226259051, 226259180]]

Promoter

Chrom	Start	End	Description
chr17	73775848	73775868	CAGE_peak_1_at_H3F3A_5end,CAGE_peak_1_at_H3F3B_5end
chr1	226250405	226250427	CAGE_peak_1_at_H3F3AP4_5end,CAGE_peak_2_at_H3F3A_5end,CAGE_peak_2_at_H3F3B_5end
chr1	226251172	226251206	CAGE_peak_4_at_H3F3A_5end,CAGE_peak_6_at_H3F3B_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I225874	225874118	225884202	2.72	[{'connected_gene': 'TMEM63A', 'score': 566.63}, {'connected_gene': 'LEFTY2', 'score': 23.37}, {'connected_gene': 'ACBD3', 'score': 19.16}, {'connected_gene': 'PYCR2', 'score': 16.94}, {'connected_gene': 'LEFTY1', 'score': 12.6}, {'connected_gene': 'ENSG00000255835', 'score': 11.62}, {'connected_gene': 'ENSG00000248322', 'score': 11.59}, {'connected_gene': 'SDE2', 'score': 10.44}, {'connected_gene': 'H3F3A', 'score': 4.61}, {'connected_gene': 'ENSG00000242861', 'score': 0.29}]
chr1	GH01I225895	225895885	225900310	1.6	[{'connected_gene': 'TMEM63A', 'score': 20.11}, {'connected_gene': 'LEFTY1', 'score': 14.81}, {'connected_gene': 'LEFTY2', 'score': 9.04}, {'connected_gene': 'LBR', 'score': 7.36}, {'connected_gene': 'SDE2', 'score': 6.38}, {'connected_gene': 'H3F3A', 'score': 1.91}, {'connected_gene': 'ENSG00000255835', 'score': 0.31}]
chr1	GH01I226166	226166687	226169246	0.56	[{'connected_gene': 'MIXL1', 'score': 19.08}, {'connected_gene': 'ACBD3', 'score': 18.26}, {'connected_gene': 'ACBD3-AS1', 'score': 15.15}, {'connected_gene': 'LIN9', 'score': 10.56}, {'connected_gene': 'PARP1', 'score': 9.62}, {'connected_gene': 'RPL34P7', 'score': 7.51}, {'connected_gene': 'H3F3A', 'score': 6.49}, {'connected_gene': 'PYCR2', 'score': 5.16}, {'connected_gene': 'GC01P226137', 'score': 0.29}]
chr1	GH01I226181	226181343	226183615	1.51	[{'connected_gene': 'MIXL1', 'score': 10.09}, {'connected_gene': 'H3F3A', 'score': 9.76}, {'connected_gene': 'RPL34P7', 'score': 7.61}, {'connected_gene': 'LINC01703', 'score': 5.31}, {'connected_gene': 'ACBD3', 'score': 2.07}, {'connected_gene': 'SDE2', 'score': 1.67}, {'connected_gene': 'ACBD3-AS1', 'score': 0.29}]
chr1	GH01I225978	225978020	225978924	0.79	[{'connected_gene': 'LEFTY2', 'score': 12.36}, {'connected_gene': 'ENSG00000248322', 'score': 12.35}, {'connected_gene': 'ENSG00000255835', 'score': 12.32}, {'connected_gene': 'PYCR2', 'score': 12.32}, {'connected_gene': 'H3F3A', 'score': 8.34}, {'connected_gene': 'NDUFA3P3', 'score': 0.39}, {'connected_gene': 'SDE2', 'score': 0.34}, {'connected_gene': 'GC01M225948', 'score': 0.2}]
chr1	GH01I225776	225776129	225780367	2.12	[{'connected_gene': 'SRP9', 'score': 550.77}, {'connected_gene': 'ACBD3', 'score': 51.82}, {'connected_gene': 'ACBD3-AS1', 'score': 48.48}, {'connected_gene': 'LINC01703', 'score': 11.56}, {'connected_gene': 'LOC105373110', 'score': 10.74}, {'connected_gene': 'H3F3A', 'score': 10.69}, {'connected_gene': 'LEFTY1', 'score': 10.62}, {'connected_gene': 'LEFTY3', 'score': 7.44}, {'connected_gene': 'EPHX1', 'score': 5.68}]
chr1	GH01I226479	226479620	226479669	0.89	[{'connected_gene': 'ACBD3', 'score': 12.07}, {'connected_gene': 'H3F3A', 'score': 11.17}, {'connected_gene': 'STUM', 'score': 10.59}, {'connected_gene': 'PARP1', 'score': 10.42}, {'connected_gene': 'CDKN2AIPNLP1', 'score': 0.39}, {'connected_gene': 'RN7SKP165', 'score': 0.29}]
chr1	GH01I226152	226152066	226163387	0.6	[{'connected_gene': 'ACBD3', 'score': 21.15}, {'connected_gene': 'H3F3A', 'score': 15.33}, {'connected_gene': 'LIN9', 'score': 10.23}, {'connected_gene': 'MIXL1', 'score': 10.05}, {'connected_gene': 'RPL34P7', 'score': 7.46}, {'connected_gene': 'LINC01703', 'score': 5.41}, {'connected_gene': 'ACBD3-AS1', 'score': 0.44}, {'connected_gene': 'GC01P226137', 'score': 0.34}]
chr1	GH01I225650	225650400	225658956	2.55	[{'connected_gene': 'ENAH', 'score': 575.74}, {'connected_gene': 'ACBD3', 'score': 100.09}, {'connected_gene': 'ACBD3-AS1', 'score': 59.98}, {'connected_gene': 'LINC01703', 'score': 34.86}, {'connected_gene': 'LBR', 'score': 13.3}, {'connected_gene': 'LOC105373110', 'score': 10.75}, {'connected_gene': 'SDE2', 'score': 10.37}, {'connected_gene': 'ENSG00000272562', 'score': 9.98}, {'connected_gene': 'H3F3A', 'score': 9.86}]
chr1	GH01I225439	225439994	225443747	1.31	[{'connected_gene': 'LBR', 'score': 43.7}, {'connected_gene': 'ACBD3', 'score': 25.41}, {'connected_gene': 'ACBD3-AS1', 'score': 20.31}, {'connected_gene': 'LOC105373110', 'score': 10.99}, {'connected_gene': 'SDE2', 'score': 10.29}, {'connected_gene': 'H3F3A', 'score': 5.59}, {'connected_gene': 'ENAH', 'score': 4.76}, {'connected_gene': 'GC01M225252', 'score': 0.44}, {'connected_gene': 'ENSG00000282418', 'score': 0.34}]
chr1	GH01I226545	226545322	226549001	1.95	[{'connected_gene': 'STUM', 'score': 554.9}, {'connected_gene': 'ACBD3-AS1', 'score': 14.18}, {'connected_gene': 'CDC42BPA', 'score': 10.74}, {'connected_gene': 'H3F3A', 'score': 9.79}, {'connected_gene': 'ACBD3', 'score': 9.73}, {'connected_gene': 'LOC105373116', 'score': 0.77}, {'connected_gene': 'GC01M226537', 'score': 0.34}]
chr1	GH01I226695	226695640	226699381	1.4	[{'connected_gene': 'ITPKB', 'score': 17.44}, {'connected_gene': 'H3F3A', 'score': 4.21}, {'connected_gene': 'PSEN2', 'score': 4.08}, {'connected_gene': 'LOC105373117', 'score': 0.77}, {'connected_gene': 'ITPKB-IT1', 'score': 0.34}]
chr1	GH01I226268	226268498	226269660	0.46	[{'connected_gene': 'H3F3A', 'score': 14.44}, {'connected_gene': 'MIXL1', 'score': 11.76}, {'connected_gene': 'LIN9', 'score': 11.5}, {'connected_gene': 'ACBD3-AS1', 'score': 11.28}, {'connected_gene': 'GC01P226285', 'score': 0.37}, {'connected_gene': 'GC01P226243', 'score': 0.31}]
chr1	GH01I226129	226129683	226130269	0.31	[{'connected_gene': 'H3F3A', 'score': 22.27}, {'connected_gene': 'MIXL1', 'score': 10.97}, {'connected_gene': 'LIN9', 'score': 9.9}, {'connected_gene': 'LINC01703', 'score': 4.67}, {'connected_gene': 'ENSG00000270598', 'score': 0.77}, {'connected_gene': 'GC01P226137', 'score': 0.44}]
chr1	GH01I225944	225944850	225946512	0.97	[{'connected_gene': 'H3F3A', 'score': 4.39}, {'connected_gene': 'LEFTY2', 'score': 0.77}, {'connected_gene': 'NDUFA3P3', 'score': 0.37}]
chr1	GH01I226131	226131731	226136352	1.27	[{'connected_gene': 'H3F3A', 'score': 19.13}, {'connected_gene': 'ACBD3', 'score': 12.41}, {'connected_gene': 'MIXL1', 'score': 11.1}, {'connected_gene': 'LIN9', 'score': 10.07}, {'connected_gene': 'LINC01703', 'score': 4.41}, {'connected_gene': 'GC01P226137', 'score': 0.77}, {'connected_gene': 'ENSG00000270598', 'score': 0.44}]
chr1	GH01I225990	225990607	225992042	0.63	[{'connected_gene': 'H3F3A', 'score': 5.25}, {'connected_gene': 'SDE2', 'score': 0.44}, {'connected_gene': 'NDUFA3P3', 'score': 0.31}, {'connected_gene': 'GC01M225948', 'score': 0.23}]
chr1	GH01I225987	225987660	225987809	0.69	[{'connected_gene': 'H3F3A', 'score': 11.83}, {'connected_gene': 'SDE2', 'score': 0.39}, {'connected_gene': 'NDUFA3P3', 'score': 0.34}, {'connected_gene': 'GC01M225948', 'score': 0.22}]
chr1	GH01I226948	226948725	226952400	0.72	[{'connected_gene': 'H3F3A', 'score': 11.04}, {'connected_gene': 'SDE2', 'score': 10.82}, {'connected_gene': 'ACBD3-AS1', 'score': 10.76}, {'connected_gene': 'ACBD3', 'score': 10.31}, {'connected_gene': 'PSEN2', 'score': 6.05}, {'connected_gene': 'CDC42BPA', 'score': 5.66}, {'connected_gene': 'ENSG00000228525', 'score': 0.44}, {'connected_gene': 'GC01M226920', 'score': 0.29}, {'connected_gene': 'GC01P226914', 'score': 0.28}, {'connected_gene': 'COQ8A', 'score': 0.23}]
chr1	GH01I226021	226021175	226022349	0.38	[{'connected_gene': 'H3F3A', 'score': 25.64}, {'connected_gene': 'GC01M225948', 'score': 0.34}, {'connected_gene': 'SDE2', 'score': 0.34}]
chr1	GH01I226027	226027923	226030749	1.04	[{'connected_gene': 'H3F3A', 'score': 31.64}, {'connected_gene': 'SDE2', 'score': 14.22}, {'connected_gene': 'GC01M225948', 'score': 0.39}]
chr1	GH01I226033	226033201	226036691	1.22	[{'connected_gene': 'H3F3A', 'score': 38.62}, {'connected_gene': 'SDE2', 'score': 22.51}, {'connected_gene': 'GC01M225948', 'score': 0.44}]
chr1	GH01I226121	226121001	226126202	1.47	[{'connected_gene': 'H3F3A', 'score': 24.78}, {'connected_gene': 'ACBD3-AS1', 'score': 12.7}, {'connected_gene': 'MIXL1', 'score': 11.59}, {'connected_gene': 'SDE2', 'score': 10.91}, {'connected_gene': 'LIN9', 'score': 10.31}, {'connected_gene': 'LINC01703', 'score': 4.56}, {'connected_gene': 'ENSG00000270598', 'score': 0.77}, {'connected_gene': 'GC01P226093', 'score': 0.29}]
chr1	GH01I226117	226117854	226120057	0.56	[{'connected_gene': 'H3F3A', 'score': 17.85}, {'connected_gene': 'ACBD3-AS1', 'score': 12.67}, {'connected_gene': 'MIXL1', 'score': 11.28}, {'connected_gene': 'SDE2', 'score': 10.91}, {'connected_gene': 'ENSG00000270598', 'score': 0.44}, {'connected_gene': 'GC01P226093', 'score': 0.31}]
chr1	GH01I226060	226060513	226066089	2.31	[{'connected_gene': 'H3F3A', 'score': 574.08}, {'connected_gene': 'ENSG00000272562', 'score': 550.77}, {'connected_gene': 'ACBD3-AS1', 'score': 31.28}, {'connected_gene': 'SDE2', 'score': 23.45}, {'connected_gene': 'LOC105373110', 'score': 19.46}, {'connected_gene': 'LINC01703', 'score': 16.15}, {'connected_gene': 'ENAH', 'score': 10.94}, {'connected_gene': 'MIXL1', 'score': 10.74}, {'connected_gene': 'ACBD3', 'score': 10.41}, {'connected_gene': 'LBR', 'score': 9.79}, {'connected_gene': 'GC01P226072', 'score': 0.44}]
chr1	GH01I226108	226108634	226113006	1.79	[{'connected_gene': 'H3F3A', 'score': 18.23}, {'connected_gene': 'ENSG00000270598', 'score': 0.37}, {'connected_gene': 'GC01P226093', 'score': 0.37}]
chr1	GH01I226045	226045926	226047195	0.59	[{'connected_gene': 'H3F3A', 'score': 25.7}, {'connected_gene': 'GC01M225948', 'score': 0.77}]
chr1	GH01I226247	226247429	226247631	0.3	[{'connected_gene': 'LIN9', 'score': 6.47}, {'connected_gene': 'PARP1', 'score': 5.6}, {'connected_gene': 'PYCR2', 'score': 3.57}, {'connected_gene': 'SRP9', 'score': 2.88}, {'connected_gene': 'H3F3A', 'score': 1.33}, {'connected_gene': 'GC01P226243', 'score': 0.77}, {'connected_gene': 'GC01P226285', 'score': 0.28}]
chr1	GH01I225995	225995876	226004719	2.69	[{'connected_gene': 'SDE2', 'score': 571.01}, {'connected_gene': 'ACBD3', 'score': 77.83}, {'connected_gene': 'ACBD3-AS1', 'score': 48.05}, {'connected_gene': 'H3F3A', 'score': 26.35}, {'connected_gene': 'LINC01703', 'score': 15.99}, {'connected_gene': 'ENAH', 'score': 10.94}, {'connected_gene': 'LOC105373110', 'score': 10.86}, {'connected_gene': 'TMEM63A', 'score': 4.02}, {'connected_gene': 'GC01M225948', 'score': 0.26}]
chr1	GH01I226032	226032161	226032509	0.4	[{'connected_gene': 'SDE2', 'score': 20.76}, {'connected_gene': 'H3F3A', 'score': 19.78}, {'connected_gene': 'GC01M225948', 'score': 0.39}]
chr1	GH01I226097	226097578	226098588	0.77	[{'connected_gene': 'ACBD3-AS1', 'score': 10.79}, {'connected_gene': 'MIXL1', 'score': 10.26}, {'connected_gene': 'ACBD3', 'score': 10.11}, {'connected_gene': 'H3F3A', 'score': 4.93}, {'connected_gene': 'GC01P226093', 'score': 0.77}, {'connected_gene': 'ENSG00000270598', 'score': 0.31}]
chr1	GH01I226100	226100201	226101400	1.51	[{'connected_gene': 'ACBD3-AS1', 'score': 10.79}, {'connected_gene': 'MIXL1', 'score': 10.25}, {'connected_gene': 'H3F3A', 'score': 3.48}, {'connected_gene': 'SDE2', 'score': 1.79}, {'connected_gene': 'GC01P226093', 'score': 0.44}, {'connected_gene': 'ENSG00000270598', 'score': 0.31}]
chr1	GH01I226228	226228419	226228918	0.63	[{'connected_gene': 'ACBD3-AS1', 'score': 11.24}, {'connected_gene': 'LIN9', 'score': 10.75}, {'connected_gene': 'PARP1', 'score': 10.02}, {'connected_gene': 'H3F3A', 'score': 5.11}, {'connected_gene': 'GC01P226231', 'score': 0.77}, {'connected_gene': 'MIXL1', 'score': 0.44}]
chr1	GH01I226082	226082739	226084232	1.52	[{'connected_gene': 'LINC01703', 'score': 550.77}, {'connected_gene': 'H3F3A', 'score': 55.64}, {'connected_gene': 'ACBD3-AS1', 'score': 32.31}, {'connected_gene': 'ACBD3', 'score': 23.33}, {'connected_gene': 'SDE2', 'score': 12.16}, {'connected_gene': 'GC01P226072', 'score': 0.39}]
chr1	GH01I226126	226126797	226129474	1.61	[{'connected_gene': 'ENSG00000270598', 'score': 550.77}, {'connected_gene': 'H3F3A', 'score': 22.21}, {'connected_gene': 'LIN9', 'score': 11.2}, {'connected_gene': 'MIXL1', 'score': 10.96}, {'connected_gene': 'ACBD3', 'score': 5.38}, {'connected_gene': 'PARP1', 'score': 1.74}, {'connected_gene': 'PYCR2', 'score': 1.42}, {'connected_gene': 'GC01P226137', 'score': 0.44}]
chr1	GH01I226327	226327701	226328780	0.59	[{'connected_gene': 'GC01M226326', 'score': 550.77}, {'connected_gene': 'H3F3A', 'score': 5.46}, {'connected_gene': 'LOC101060016', 'score': 0.44}]
chr1	GH01I226307	226307799	226311069	2.08	[{'connected_gene': 'GC01M226306', 'score': 550.77}, {'connected_gene': 'LIN9', 'score': 550.77}, {'connected_gene': 'ACBD3-AS1', 'score': 23.3}, {'connected_gene': 'H3F3A', 'score': 23.05}, {'connected_gene': 'LOC105373110', 'score': 19.68}, {'connected_gene': 'ENAH', 'score': 12.2}, {'connected_gene': 'LINC01703', 'score': 11.18}, {'connected_gene': 'ACBD3', 'score': 9.8}]
chr1	GH01I226042	226042757	226042895	0.42	[{'connected_gene': 'GC01M225948', 'score': 550.77}, {'connected_gene': 'SDE2', 'score': 6.66}, {'connected_gene': 'H3F3A', 'score': 5.31}]