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
ENST00000542034	[[226411318, 226411775], [226413183, 226413565]]	[[226411382, 226411775], [226413183, 226413513]]
ENST00000366810	[[226411318, 226411775], [226413207, 226414755]]	[[226411382, 226411775], [226413207, 226413513]]
ENST00000557734	[[226413203, 226413348], [226413451, 226414090]]	None
NM_031944	[[226411318, 226411775], [226413207, 226414756]]	[[226411382, 226411775], [226413207, 226413513]]
NM_001282402	[[226411318, 226411775], [226413183, 226414756]]	[[226411382, 226411775], [226413183, 226413513]]

Promoter

Chrom	Start	End	Description
chr1	226411208	226411223	CAGE_peak_2_at_MIXL1_5end
chr1	226411361	226411366	CAGE_peak_1_at_MIXL1_5end
chr1	226411644	226411666	CAGE_peak_3_at_MIXL1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
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	GH01I226255	226255306	226255486	0.22	[{'connected_gene': 'MIXL1', 'score': 12.06}, {'connected_gene': 'LIN9', 'score': 11.42}, {'connected_gene': 'PARP1', 'score': 9.99}, {'connected_gene': 'GC01P226243', 'score': 0.39}, {'connected_gene': 'GC01P226285', 'score': 0.31}]
chr1	GH01I226173	226173528	226173681	0.35	[{'connected_gene': 'MIXL1', 'score': 21.06}, {'connected_gene': 'ACBD3-AS1', 'score': 12.75}, {'connected_gene': 'LIN9', 'score': 10.57}, {'connected_gene': 'PARP1', 'score': 9.62}, {'connected_gene': 'ACBD3', 'score': 0.39}]
chr1	GH01I226201	226201090	226201204	0.53	[{'connected_gene': 'MIXL1', 'score': 12.74}, {'connected_gene': 'ACBD3-AS1', 'score': 11.45}, {'connected_gene': 'LIN9', 'score': 10.59}, {'connected_gene': 'PARP1', 'score': 10.03}, {'connected_gene': 'LEFTY1', 'score': 1.69}, {'connected_gene': 'GC01M226196', 'score': 0.77}, {'connected_gene': 'LOC101927247', 'score': 0.39}]
chr1	GH01I226222	226222700	226224398	1.83	[{'connected_gene': 'MIXL1', 'score': 560.84}, {'connected_gene': 'GC01M226196', 'score': 0.31}]
chr1	GH01I226219	226219908	226221169	0.57	[{'connected_gene': 'MIXL1', 'score': 8.47}, {'connected_gene': 'GC01M226196', 'score': 0.34}]
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	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	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	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	GH01I226365	226365400	226365476	0.31	[{'connected_gene': 'LIN9', 'score': 11.0}, {'connected_gene': 'PARP1', 'score': 10.9}, {'connected_gene': 'ACBD3-AS1', 'score': 10.88}, {'connected_gene': 'MIXL1', 'score': 10.86}, {'connected_gene': 'LOC101060016', 'score': 0.29}]
chr1	GH01I226364	226364108	226365084	0.57	[{'connected_gene': 'LIN9', 'score': 11.01}, {'connected_gene': 'PARP1', 'score': 10.9}, {'connected_gene': 'ACBD3-AS1', 'score': 10.88}, {'connected_gene': 'MIXL1', 'score': 10.86}, {'connected_gene': 'LOC101060016', 'score': 0.29}]
chr1	GH01I226402	226402301	226408949	2.34	[{'connected_gene': 'PARP1', 'score': 564.29}, {'connected_gene': 'CDC42BPA', 'score': 16.73}, {'connected_gene': 'ACBD3-AS1', 'score': 11.83}, {'connected_gene': 'LINC01703', 'score': 11.56}, {'connected_gene': 'STUM', 'score': 10.14}, {'connected_gene': 'MIXL1', 'score': 10.04}, {'connected_gene': 'ACBD3', 'score': 9.73}, {'connected_gene': 'PSEN2', 'score': 3.54}, {'connected_gene': 'LOC101060016', 'score': 0.19}]
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	GH01I226272	226272080	226274336	1.04	[{'connected_gene': 'ACBD3-AS1', 'score': 22.38}, {'connected_gene': 'MIXL1', 'score': 22.34}, {'connected_gene': 'ACBD3', 'score': 22.23}, {'connected_gene': 'LIN9', 'score': 11.58}, {'connected_gene': 'GC01P226285', 'score': 0.39}, {'connected_gene': 'GC01P226243', '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	GH01I226348	226348876	226351596	1.04	[{'connected_gene': 'ACBD3-AS1', 'score': 22.92}, {'connected_gene': 'ACBD3', 'score': 22.45}, {'connected_gene': 'LIN9', 'score': 11.8}, {'connected_gene': 'PARP1', 'score': 11.2}, {'connected_gene': 'MIXL1', 'score': 11.13}, {'connected_gene': 'LOC101060016', 'score': 0.37}]
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	GH01I226197	226197080	226197229	0.77	[{'connected_gene': 'GC01M226196', 'score': 550.77}, {'connected_gene': 'MIXL1', 'score': 12.71}, {'connected_gene': 'ACBD3-AS1', 'score': 11.47}, {'connected_gene': 'LIN9', 'score': 10.58}, {'connected_gene': 'PARP1', 'score': 9.9}, {'connected_gene': 'LOC101927247', 'score': 0.39}]
chr1	GH01I226210	226210620	226210769	0.49	[{'connected_gene': 'GC01M226196', 'score': 0.39}, {'connected_gene': 'MIXL1', 'score': 0.39}, {'connected_gene': 'LOC101927247', 'score': 0.34}]
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}]