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
ENST00000360658	[[52255095, 52258328], [52259542, 52260179]]	[[52255232, 52258328], [52259542, 52259545]]
ENST00000597542	[[52255232, 52258328], [52263676, 52263798], [52263935, 52264086], [52264885, 52265011], [52265142, 52265247], [52265459, 52265555], [52265959, 52266138], [52269044, 52269122], [52273007, 52273183]]	[[52255232, 52258328], [52263676, 52263751]]
NM_017442	[[52255095, 52258328], [52259542, 52260179]]	[[52255232, 52258328], [52259542, 52259545]]

Promoter

Chrom	Start	End	Description
chr3	52259631	52259643	CAGE_peak_2_at_TLR9_5end
chr3	52259644	52259667	CAGE_peak_1_at_TLR9_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr3	GH03I052385	52385285	52385454	0.67	[{'connected_gene': 'BAP1', 'score': 12.71}, {'connected_gene': 'PHF7', 'score': 12.68}, {'connected_gene': 'GLYCTK-AS1', 'score': 11.18}, {'connected_gene': 'LOC101929054', 'score': 11.18}, {'connected_gene': 'TWF2', 'score': 11.18}, {'connected_gene': 'ENSG00000173366', 'score': 11.18}, {'connected_gene': 'MIR135A1', 'score': 11.18}, {'connected_gene': 'TLR9', 'score': 11.18}, {'connected_gene': 'WDR82', 'score': 11.17}, {'connected_gene': 'GLYCTK', 'score': 11.17}, {'connected_gene': 'SEMA3G', 'score': 10.71}, {'connected_gene': 'PPM1M', 'score': 10.39}, {'connected_gene': 'PPP2R5CP', 'score': 0.39}, {'connected_gene': 'PIR54826', 'score': 0.34}, {'connected_gene': 'DNAH1', 'score': 0.2}]
chr3	GH03I052222	52222001	52223053	0.4	[{'connected_gene': 'WDR82', 'score': 11.62}, {'connected_gene': 'PPM1M', 'score': 11.57}, {'connected_gene': 'GLYCTK', 'score': 11.45}, {'connected_gene': 'MIR135A1', 'score': 11.43}, {'connected_gene': 'GLYCTK-AS1', 'score': 11.42}, {'connected_gene': 'NT5DC2', 'score': 10.98}, {'connected_gene': 'DUSP7', 'score': 10.33}, {'connected_gene': 'TLR9', 'score': 0.77}, {'connected_gene': 'ENSG00000280003', 'score': 0.77}, {'connected_gene': 'ENSG00000173366', 'score': 0.44}]
chr3	GH03I052224	52224110	52227377	1.45	[{'connected_gene': 'TLR9', 'score': 550.77}, {'connected_gene': 'GLYCTK', 'score': 12.74}, {'connected_gene': 'PPM1M', 'score': 11.34}, {'connected_gene': 'PBRM1', 'score': 11.23}, {'connected_gene': 'RFT1', 'score': 4.45}, {'connected_gene': 'NEK4', 'score': 4.45}, {'connected_gene': 'ENSG00000173366', 'score': 0.44}, {'connected_gene': 'ENSG00000280003', 'score': 0.44}]
chr3	GH03I052168	52167524	52167694	0.31	[{'connected_gene': 'TLR9', 'score': 10.71}, {'connected_gene': 'ENSG00000173366', 'score': 10.7}, {'connected_gene': 'LOC101929054', 'score': 10.68}, {'connected_gene': 'TWF2', 'score': 10.68}, {'connected_gene': 'WDR82', 'score': 10.54}, {'connected_gene': 'DUSP7', 'score': 10.22}, {'connected_gene': 'POC1A', 'score': 0.39}, {'connected_gene': 'ALDOAP1', 'score': 0.31}]
chr3	GH03I052167	52167245	52167434	0.43	[{'connected_gene': 'TLR9', 'score': 10.71}, {'connected_gene': 'ENSG00000173366', 'score': 10.7}, {'connected_gene': 'LOC101929054', 'score': 10.68}, {'connected_gene': 'TWF2', 'score': 10.68}, {'connected_gene': 'WDR82', 'score': 10.54}, {'connected_gene': 'DUSP7', 'score': 10.22}, {'connected_gene': 'POC1A', 'score': 0.39}, {'connected_gene': 'ALDOAP1', 'score': 0.31}]
chr3	GH03I052202	52201428	52203740	0.83	[{'connected_gene': 'TLR9', 'score': 12.44}, {'connected_gene': 'ENSG00000173366', 'score': 12.41}, {'connected_gene': 'LOC101929054', 'score': 12.38}, {'connected_gene': 'TWF2', 'score': 12.38}, {'connected_gene': 'GLYCTK', 'score': 11.0}, {'connected_gene': 'WDR82', 'score': 11.0}, {'connected_gene': 'MIR135A1', 'score': 10.99}, {'connected_gene': 'GLYCTK-AS1', 'score': 10.98}, {'connected_gene': 'NT5DC2', 'score': 10.59}, {'connected_gene': 'DUSP7', 'score': 10.44}, {'connected_gene': 'PIR51375', 'score': 0.77}, {'connected_gene': 'GC03P052204', 'score': 0.77}, {'connected_gene': 'ALAS1', 'score': 0.77}]
chr3	GH03I052171	52171318	52172139	0.97	[{'connected_gene': 'TLR9', 'score': 10.46}, {'connected_gene': 'ENSG00000173366', 'score': 10.45}, {'connected_gene': 'LOC101929054', 'score': 10.43}, {'connected_gene': 'TWF2', 'score': 10.43}, {'connected_gene': 'GLYCTK-AS1', 'score': 10.26}, {'connected_gene': 'MIR135A1', 'score': 10.25}, {'connected_gene': 'PCBP4', 'score': 10.15}, {'connected_gene': 'WDR82', 'score': 9.66}, {'connected_gene': 'GLYCTK', 'score': 9.66}, {'connected_gene': 'GPR62', 'score': 9.47}, {'connected_gene': 'POC1A', 'score': 0.37}, {'connected_gene': 'ALDOAP1', 'score': 0.34}]
chr3	GH03I052339	52339600	52340001	1.08	[{'connected_gene': 'DNAH1', 'score': 12.44}, {'connected_gene': 'GLYCTK-AS1', 'score': 12.19}, {'connected_gene': 'MIR135A1', 'score': 12.17}, {'connected_gene': 'WDR82', 'score': 12.16}, {'connected_gene': 'GLYCTK', 'score': 12.16}, {'connected_gene': 'LOC101929054', 'score': 11.64}, {'connected_gene': 'TWF2', 'score': 11.64}, {'connected_gene': 'ENSG00000173366', 'score': 11.63}, {'connected_gene': 'TLR9', 'score': 11.62}, {'connected_gene': 'PPM1M', 'score': 11.38}, {'connected_gene': 'SEMA3G', 'score': 10.6}, {'connected_gene': 'PPP2R5CP', 'score': 0.29}]
chr3	GH03I052274	52274220	52291489	2.5	[{'connected_gene': 'GLYCTK', 'score': 568.52}, {'connected_gene': 'WDR82', 'score': 550.44}, {'connected_gene': 'LOC101929054', 'score': 28.2}, {'connected_gene': 'PPM1M', 'score': 28.18}, {'connected_gene': 'TWF2', 'score': 23.58}, {'connected_gene': 'ITIH4', 'score': 20.35}, {'connected_gene': 'PBRM1', 'score': 19.2}, {'connected_gene': 'ENSG00000173366', 'score': 11.39}, {'connected_gene': 'TLR9', 'score': 11.37}, {'connected_gene': 'SEMA3G', 'score': 10.74}, {'connected_gene': 'NT5DC2', 'score': 8.65}, {'connected_gene': 'RPL29', 'score': 4.61}, {'connected_gene': 'ITIH3', 'score': 4.47}, {'connected_gene': 'RFT1', 'score': 4.37}, {'connected_gene': 'NEK4', 'score': 4.18}, {'connected_gene': 'GC03P052278', 'score': 0.77}, {'connected_gene': 'GC03M052276', 'score': 0.44}, {'connected_gene': 'GC03M052275', 'score': 0.44}, {'connected_gene': 'GLYCTK-AS1', 'score': 0.37}]
chr3	GH03I052201	52201094	52201275	0.27	[{'connected_gene': 'GLYCTK', 'score': 12.77}, {'connected_gene': 'TLR9', 'score': 11.97}, {'connected_gene': 'ENSG00000173366', 'score': 11.92}, {'connected_gene': 'LOC101929054', 'score': 11.91}, {'connected_gene': 'TWF2', 'score': 11.91}, {'connected_gene': 'WDR82', 'score': 10.75}, {'connected_gene': 'MIR135A1', 'score': 10.35}, {'connected_gene': 'GLYCTK-AS1', 'score': 10.35}, {'connected_gene': 'PBRM1', 'score': 1.82}, {'connected_gene': 'DNAH1', 'score': 1.45}, {'connected_gene': 'PIR51375', 'score': 0.77}, {'connected_gene': 'GC03P052204', 'score': 0.77}, {'connected_gene': 'ALAS1', 'score': 0.77}]
chr3	GH03I052205	52205081	52205429	0.2	[{'connected_gene': 'PIR51375', 'score': 550.77}, {'connected_gene': 'GC03P052204', 'score': 550.77}, {'connected_gene': 'TLR9', 'score': 13.08}, {'connected_gene': 'ENSG00000173366', 'score': 13.05}, {'connected_gene': 'LOC101929054', 'score': 13.03}, {'connected_gene': 'TWF2', 'score': 13.03}, {'connected_gene': 'WDR82', 'score': 11.39}, {'connected_gene': 'PPM1M', 'score': 11.24}, {'connected_gene': 'GLYCTK', 'score': 11.12}, {'connected_gene': 'MIR135A1', 'score': 11.11}, {'connected_gene': 'GLYCTK-AS1', 'score': 11.1}, {'connected_gene': 'DUSP7', 'score': 10.41}, {'connected_gene': 'ALAS1', 'score': 0.44}, {'connected_gene': 'ENSG00000280003', 'score': 0.39}]
chr3	GH03I052204	52204109	52204624	0.65	[{'connected_gene': 'PIR51375', 'score': 550.77}, {'connected_gene': 'GC03P052204', 'score': 550.77}, {'connected_gene': 'TLR9', 'score': 12.44}, {'connected_gene': 'ENSG00000173366', 'score': 12.41}, {'connected_gene': 'LOC101929054', 'score': 12.4}, {'connected_gene': 'TWF2', 'score': 12.4}, {'connected_gene': 'WDR82', 'score': 11.01}, {'connected_gene': 'GLYCTK', 'score': 11.0}, {'connected_gene': 'MIR135A1', 'score': 11.0}, {'connected_gene': 'GLYCTK-AS1', 'score': 10.99}, {'connected_gene': 'DUSP7', 'score': 10.35}, {'connected_gene': 'ALAS1', 'score': 0.44}]
chr3	GH03I052258	52258327	52259656	0.49	[{'connected_gene': 'PIR44903', 'score': 550.77}, {'connected_gene': 'PPM1M', 'score': 16.95}, {'connected_gene': 'WDR82', 'score': 11.16}, {'connected_gene': 'GLYCTK', 'score': 11.16}, {'connected_gene': 'MIR135A1', 'score': 11.12}, {'connected_gene': 'GLYCTK-AS1', 'score': 11.11}, {'connected_gene': 'ENSG00000173366', 'score': 11.07}, {'connected_gene': 'TLR9', 'score': 11.06}, {'connected_gene': 'PIR61179', 'score': 0.77}, {'connected_gene': 'GC03M052258', 'score': 0.77}, {'connected_gene': 'GC03M052257', 'score': 0.77}]