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
ENST00000439858	[[43735664, 43735756], [43736351, 43736464], [43737854, 43738010], [43738248, 43739673]]	[[43738393, 43739053]]
ENST00000432792	[[43735695, 43735756], [43736256, 43736464], [43737854, 43738010], [43738248, 43739673]]	[[43738393, 43739053]]
ENST00000442284	[[43735717, 43735756], [43736351, 43736491]]	None
ENST00000456751	[[43736616, 43736835], [43737854, 43738010], [43738248, 43738440]]	[[43738393, 43738440]]
NM_144626	[[43735664, 43735756], [43736351, 43736464], [43737854, 43738010], [43738248, 43739673]]	[[43738393, 43739053]]
NM_001320244	[[43735664, 43735756], [43736256, 43736464], [43737854, 43738010], [43738248, 43739673]]	[[43738393, 43739053]]

Promoter

Chrom	Start	End	Description
chr1	43735646	43735660	CAGE_peak_2_at_TMEM125_5end
chr1	43735678	43735691	CAGE_peak_5_at_TMEM125_5end
chr1	43736292	43736303	CAGE_peak_3_at_TMEM125_5end
chr1	43736324	43736409	CAGE_peak_1_at_TMEM125_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I043287	43287286	43289961	0.52	[{'connected_gene': 'MPL', 'score': 11.05}, {'connected_gene': 'CDC20', 'score': 10.7}, {'connected_gene': 'LOC105378687', 'score': 10.7}, {'connected_gene': 'ELOVL1', 'score': 10.69}, {'connected_gene': 'ENSG00000229431', 'score': 10.55}, {'connected_gene': 'MED8', 'score': 10.55}, {'connected_gene': 'SZT2', 'score': 10.34}, {'connected_gene': 'CFAP57', 'score': 9.92}, {'connected_gene': 'TMEM125', 'score': 6.29}, {'connected_gene': 'C1orf210', 'score': 0.77}, {'connected_gene': 'GC01P043301', 'score': 0.39}]
chr1	GH01I043283	43283703	43286890	1.66	[{'connected_gene': 'C1orf210', 'score': 558.77}, {'connected_gene': 'CFAP57', 'score': 20.97}, {'connected_gene': 'SZT2', 'score': 16.64}, {'connected_gene': 'MPL', 'score': 11.3}, {'connected_gene': 'ENSG00000229431', 'score': 10.75}, {'connected_gene': 'MED8', 'score': 10.75}, {'connected_gene': 'CDC20', 'score': 10.7}, {'connected_gene': 'LOC105378687', 'score': 10.7}, {'connected_gene': 'ELOVL1', 'score': 10.69}, {'connected_gene': 'TMEM125', 'score': 9.32}, {'connected_gene': 'EBNA1BP2', 'score': 0.39}]
chr1	GH01I043266	43266883	43268495	0.66	[{'connected_gene': 'CFAP57', 'score': 14.21}, {'connected_gene': 'TIE1', 'score': 11.11}, {'connected_gene': 'SZT2', 'score': 9.52}, {'connected_gene': 'TMEM125', 'score': 0.77}, {'connected_gene': 'EBNA1BP2', 'score': 0.77}, {'connected_gene': 'LOC105378685', 'score': 0.37}]
chr1	GH01I043255	43255853	43257820	0.63	[{'connected_gene': 'CFAP57', 'score': 11.01}, {'connected_gene': 'C1orf210', 'score': 8.53}, {'connected_gene': 'LOC101929592', 'score': 4.28}, {'connected_gene': 'LOC105378685', 'score': 0.44}, {'connected_gene': 'TMEM125', 'score': 0.39}, {'connected_gene': 'EBNA1BP2', 'score': 0.39}]
chr1	GH01I043273	43273656	43275115	1.12	[{'connected_gene': 'CFAP57', 'score': 10.74}, {'connected_gene': 'TMEM125', 'score': 0.77}, {'connected_gene': 'EBNA1BP2', 'score': 0.77}, {'connected_gene': 'C1orf210', 'score': 0.39}]
chr1	GH01I043240	43239051	43240118	0.64	[{'connected_gene': 'TMEM125', 'score': 12.1}, {'connected_gene': 'ELOVL1', 'score': 11.86}, {'connected_gene': 'CDC20', 'score': 11.86}, {'connected_gene': 'LOC105378687', 'score': 11.86}, {'connected_gene': 'MPL', 'score': 11.13}, {'connected_gene': 'ENSG00000229431', 'score': 11.12}, {'connected_gene': 'MED8', 'score': 11.11}, {'connected_gene': 'SZT2', 'score': 11.07}, {'connected_gene': 'SZT2-AS1', 'score': 11.03}, {'connected_gene': 'HYI', 'score': 11.03}, {'connected_gene': 'HYI-AS1', 'score': 11.03}, {'connected_gene': 'C1orf210', 'score': 8.36}, {'connected_gene': 'LOC105378685', 'score': 0.39}, {'connected_gene': 'GC01P043207', 'score': 0.29}, {'connected_gene': 'EBNA1BP2', 'score': 0.29}, {'connected_gene': 'CFAP57', 'score': 0.2}]
chr1	GH01I043239	43238400	43238600	0.8	[{'connected_gene': 'TMEM125', 'score': 12.1}, {'connected_gene': 'ELOVL1', 'score': 11.86}, {'connected_gene': 'CDC20', 'score': 11.86}, {'connected_gene': 'LOC105378687', 'score': 11.86}, {'connected_gene': 'ENSG00000229431', 'score': 11.12}, {'connected_gene': 'MED8', 'score': 11.11}, {'connected_gene': 'SZT2', 'score': 11.07}, {'connected_gene': 'HYI-AS1', 'score': 11.03}, {'connected_gene': 'HYI', 'score': 11.03}, {'connected_gene': 'SZT2-AS1', 'score': 11.03}, {'connected_gene': 'LOC105378685', 'score': 0.39}, {'connected_gene': 'EBNA1BP2', 'score': 0.29}, {'connected_gene': 'GC01P043207', 'score': 0.29}, {'connected_gene': 'CFAP57', 'score': 0.2}]
chr1	GH01I043272	43272227	43272286	0.81	[{'connected_gene': 'TMEM125', 'score': 550.77}, {'connected_gene': 'EBNA1BP2', 'score': 550.77}, {'connected_gene': 'C1orf210', 'score': 0.39}]
chr1	GH01I043270	43269642	43271715	1.94	[{'connected_gene': 'TMEM125', 'score': 550.77}, {'connected_gene': 'EBNA1BP2', 'score': 550.77}, {'connected_gene': 'CFAP57', 'score': 10.92}, {'connected_gene': 'C1orf210', 'score': 8.05}, {'connected_gene': 'KDM4A-AS1', 'score': 6.1}]
chr1	GH01I043269	43269115	43269405	0.31	[{'connected_gene': 'TMEM125', 'score': 550.77}, {'connected_gene': 'EBNA1BP2', 'score': 550.77}, {'connected_gene': 'LOC105378685', 'score': 0.37}]
chr1	GH01I043276	43276305	43277603	0.91	[{'connected_gene': 'TMEM125', 'score': 9.82}, {'connected_gene': 'LOC101929592', 'score': 4.83}, {'connected_gene': 'C1orf210', 'score': 0.44}, {'connected_gene': 'EBNA1BP2', 'score': 0.44}]
chr1	GH01I043253	43253841	43254673	0.31	[{'connected_gene': 'LOC105378685', 'score': 0.77}, {'connected_gene': 'TMEM125', 'score': 0.37}, {'connected_gene': 'EBNA1BP2', 'score': 0.37}, {'connected_gene': 'CFAP57', 'score': 0.18}]