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
ENST00000272091	[[226170402, 226173224], [226175596, 226176089], [226178943, 226179064], [226180098, 226180268], [226180591, 226180703], [226182966, 226183084], [226186893, 226187032]]	[[226173002, 226173224], [226175596, 226176089], [226178943, 226179064], [226180098, 226180268], [226180591, 226180703], [226182966, 226183084], [226186893, 226187013]]
NM_152608	[[226170402, 226173224], [226175596, 226176089], [226178943, 226179064], [226180098, 226180268], [226180591, 226180703], [226182966, 226183084], [226186893, 226187066]]	[[226173002, 226173224], [226175596, 226176089], [226178943, 226179064], [226180098, 226180268], [226180591, 226180703], [226182966, 226183084], [226186893, 226187013]]

Promoter

Chrom	Start	End	Description
chr1	226187013	226187071	CAGE_peak_1_at_C1orf55_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	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	GH01I225976	225976000	225976401	1.14	[{'connected_gene': 'LEFTY2', 'score': 12.38}, {'connected_gene': 'ENSG00000248322', 'score': 12.36}, {'connected_gene': 'ENSG00000255835', 'score': 12.32}, {'connected_gene': 'PYCR2', 'score': 12.32}, {'connected_gene': 'NDUFA3P3', 'score': 0.39}, {'connected_gene': 'SDE2', 'score': 0.34}, {'connected_gene': 'GC01M225948', 'score': 0.2}]
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	GH01I226937	226937814	226942228	2.54	[{'connected_gene': 'COQ8A', 'score': 560.68}, {'connected_gene': 'CDC42BPA', 'score': 32.56}, {'connected_gene': 'ZNF678', 'score': 14.69}, {'connected_gene': 'ACBD3', 'score': 12.43}, {'connected_gene': 'SDE2', 'score': 11.7}, {'connected_gene': 'LINC01703', 'score': 11.53}, {'connected_gene': 'ENSG00000228525', 'score': 0.37}, {'connected_gene': 'GC01P226914', 'score': 0.31}, {'connected_gene': 'GC01M226920', 'score': 0.26}]
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	GH01I225424	225424124	225429641	2.56	[{'connected_gene': 'LBR', 'score': 571.22}, {'connected_gene': 'ACBD3', 'score': 47.49}, {'connected_gene': 'ACBD3-AS1', 'score': 31.86}, {'connected_gene': 'LINC01703', 'score': 25.14}, {'connected_gene': 'ENAH', 'score': 21.4}, {'connected_gene': 'WDR26', 'score': 20.08}, {'connected_gene': 'SDE2', 'score': 10.35}, {'connected_gene': 'ENSG00000272562', 'score': 9.96}, {'connected_gene': 'LOC105373110', 'score': 6.5}, {'connected_gene': 'GC01M225252', 'score': 0.44}, {'connected_gene': 'GC01M225093', 'score': 0.06}]
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	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	GH01I225921	225921796	225925481	2.3	[{'connected_gene': 'PYCR2', 'score': 576.74}, {'connected_gene': 'ENSG00000255835', 'score': 550.77}, {'connected_gene': 'MIR6741', 'score': 550.77}, {'connected_gene': 'ACBD3', 'score': 33.9}, {'connected_gene': 'ENAH', 'score': 12.24}, {'connected_gene': 'SDE2', 'score': 11.86}, {'connected_gene': 'LINC01703', 'score': 11.2}, {'connected_gene': 'ACBD3-AS1', 'score': 10.38}, {'connected_gene': 'LEFTY1', 'score': 6.81}]
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	GH01I226075	226075843	226076164	0.23	[{'connected_gene': 'SDE2', 'score': 13.37}, {'connected_gene': 'GC01P226072', 'score': 0.44}, {'connected_gene': 'LINC01703', 'score': 0.44}]
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	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	GH01I226042	226042757	226042895	0.42	[{'connected_gene': 'GC01M225948', 'score': 550.77}, {'connected_gene': 'SDE2', 'score': 6.66}, {'connected_gene': 'H3F3A', 'score': 5.31}]