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
ENST00000368708	[[153533583, 153534067], [153536209, 153536363], [153537981, 153538341]]	[[153533914, 153534067], [153536209, 153536350]]
ENST00000487430	[[153533815, 153534067], [153536209, 153536709]]	[[153533914, 153534067], [153536209, 153536350]]
ENST00000497140	[[153533815, 153534067], [153536209, 153536329], [153537981, 153538306]]	[[153533914, 153534067], [153536209, 153536251]]
ENST00000368710	[[153533815, 153534067], [153536209, 153536363], [153540319, 153540366]]	[[153533914, 153534067], [153536209, 153536350]]
ENST00000368709	[[153533818, 153534067], [153536209, 153536363], [153539177, 153539231]]	[[153533914, 153534067], [153536209, 153536350]]
ENST00000368707	[[153533824, 153534067], [153535890, 153536012], [153536209, 153536363], [153537981, 153538018]]	[[153534042, 153534067], [153535890, 153536012], [153536209, 153536350]]
NM_005978	[[153533583, 153534067], [153536209, 153536363], [153537981, 153538306]]	[[153533914, 153534067], [153536209, 153536350]]

Promoter

Chrom	Start	End	Description
chr1	153536234	153536259	CAGE_peak_9_at_S100A2_5end
chr1	153536265	153536284	CAGE_peak_11_at_S100A2_5end
chr1	153536308	153536350	CAGE_peak_6_at_S100A2_5end
chr1	153537328	153537329	CAGE_peak_5_at_S100A2_5end
chr1	153538011	153538030	CAGE_peak_1_at_S100A2_5end
chr1	153538047	153538062	CAGE_peak_2_at_S100A2_5end
chr1	153538246	153538265	CAGE_peak_7_at_S100A2_5end
chr1	153538268	153538288	CAGE_peak_4_at_S100A2_5end
chr1	153538292	153538342	CAGE_peak_3_at_S100A2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I153553	153552846	153552936	0.24	[{'connected_gene': 'S100A14', 'score': 10.83}, {'connected_gene': 'S100A16', 'score': 10.83}, {'connected_gene': 'S100A1', 'score': 10.63}, {'connected_gene': 'CHTOP', 'score': 10.62}, {'connected_gene': 'S100A13', 'score': 10.62}, {'connected_gene': 'INTS3', 'score': 10.05}, {'connected_gene': 'ENSG00000233222', 'score': 10.04}, {'connected_gene': 'ENSG00000243613', 'score': 10.04}, {'connected_gene': 'ILF2', 'score': 9.85}, {'connected_gene': 'S100A7L2', 'score': 5.72}, {'connected_gene': 'S100A9', 'score': 2.1}, {'connected_gene': 'PGLYRP3', 'score': 2.03}, {'connected_gene': 'S100A4', 'score': 1.96}, {'connected_gene': 'S100A12', 'score': 1.46}, {'connected_gene': 'S100A2', 'score': 0.39}]
chr1	GH01I153572	153571645	153573832	1.41	[{'connected_gene': 'INTS3', 'score': 14.03}, {'connected_gene': 'ATP8B2', 'score': 12.97}, {'connected_gene': 'UBAP2L', 'score': 11.86}, {'connected_gene': 'S100A3', 'score': 10.46}, {'connected_gene': 'S100A9', 'score': 3.82}, {'connected_gene': 'S100A7L2', 'score': 2.65}, {'connected_gene': 'S100A12', 'score': 2.6}, {'connected_gene': 'S100A4', 'score': 1.89}, {'connected_gene': 'S100A2', 'score': 0.77}, {'connected_gene': 'PIR44602', 'score': 0.39}]
chr1	GH01I153578	153577167	153577352	0.45	[{'connected_gene': 'S100A3', 'score': 12.8}, {'connected_gene': 'S100A7L2', 'score': 11.13}, {'connected_gene': 'PGLYRP3', 'score': 3.66}, {'connected_gene': 'PIR44602', 'score': 0.44}, {'connected_gene': 'S100A2', 'score': 0.44}]
chr1	GH01I153552	153552973	153554763	1.07	[{'connected_gene': 'S100A3', 'score': 13.91}, {'connected_gene': 'CHTOP', 'score': 12.52}, {'connected_gene': 'S100A13', 'score': 12.35}, {'connected_gene': 'S100A16', 'score': 10.84}, {'connected_gene': 'S100A14', 'score': 10.83}, {'connected_gene': 'S100A1', 'score': 10.64}, {'connected_gene': 'INTS3', 'score': 10.05}, {'connected_gene': 'ENSG00000233222', 'score': 10.04}, {'connected_gene': 'ENSG00000243613', 'score': 10.04}, {'connected_gene': 'ILF2', 'score': 9.85}, {'connected_gene': 'S100A9', 'score': 8.74}, {'connected_gene': 'S100A12', 'score': 6.49}, {'connected_gene': 'S100A4', 'score': 3.78}, {'connected_gene': 'S100A8', 'score': 2.44}, {'connected_gene': 'S100A2', 'score': 0.39}]
chr1	GH01I153514	153514601	153516973	1.33	[{'connected_gene': 'S100A3', 'score': 10.07}, {'connected_gene': 'RN7SL44P', 'score': 8.43}, {'connected_gene': 'S100A2', 'score': 5.42}, {'connected_gene': 'S100A14', 'score': 4.52}, {'connected_gene': 'PGLYRP4', 'score': 2.0}, {'connected_gene': 'S100A6', 'score': 1.53}, {'connected_gene': 'S100A16', 'score': 1.49}, {'connected_gene': 'GC01M153500', 'score': 0.37}, {'connected_gene': 'ENSG00000238279', 'score': 0.37}]
chr1	GH01I153561	153561172	153569950	2.27	[{'connected_gene': 'S100A2', 'score': 552.94}, {'connected_gene': 'S100A6', 'score': 15.88}, {'connected_gene': 'S100A3', 'score': 15.05}, {'connected_gene': 'S100A5', 'score': 12.92}, {'connected_gene': 'ENSG00000238279', 'score': 12.87}, {'connected_gene': 'S100A16', 'score': 12.57}, {'connected_gene': 'S100A13', 'score': 12.27}, {'connected_gene': 'S100A14', 'score': 12.24}, {'connected_gene': 'SNAPIN', 'score': 10.36}, {'connected_gene': 'S100A1', 'score': 10.23}, {'connected_gene': 'CHTOP', 'score': 10.23}, {'connected_gene': 'NPR1', 'score': 9.68}, {'connected_gene': 'S100A9', 'score': 9.64}, {'connected_gene': 'PGLYRP4', 'score': 9.37}, {'connected_gene': 'INTS3', 'score': 9.33}, {'connected_gene': 'ENSG00000233222', 'score': 9.32}, {'connected_gene': 'ENSG00000243613', 'score': 9.32}, {'connected_gene': 'RNU6-160P', 'score': 9.16}, {'connected_gene': 'S100A4', 'score': 6.77}, {'connected_gene': 'S100A7L2', 'score': 2.46}, {'connected_gene': 'PGLYRP3', 'score': 1.35}]
chr1	GH01I153571	153571025	153571174	0.2	[{'connected_gene': 'S100A2', 'score': 0.77}, {'connected_gene': 'PIR44602', 'score': 0.39}]
chr1	GH01I153577	153577722	153579717	0.77	[{'connected_gene': 'S100A16', 'score': 11.49}, {'connected_gene': 'S100A14', 'score': 11.47}, {'connected_gene': 'S100A1', 'score': 11.29}, {'connected_gene': 'S100A13', 'score': 11.27}, {'connected_gene': 'CHTOP', 'score': 11.27}, {'connected_gene': 'S100A3', 'score': 10.59}, {'connected_gene': 'SNAPIN', 'score': 10.47}, {'connected_gene': 'ILF2', 'score': 10.27}, {'connected_gene': 'NPR1', 'score': 10.22}, {'connected_gene': 'ENSG00000233222', 'score': 9.93}, {'connected_gene': 'ENSG00000243613', 'score': 9.93}, {'connected_gene': 'INTS3', 'score': 9.83}, {'connected_gene': 'PGLYRP4', 'score': 9.3}, {'connected_gene': 'RNU6-160P', 'score': 9.07}, {'connected_gene': 'PIR44602', 'score': 0.44}, {'connected_gene': 'S100A2', 'score': 0.39}]
chr1	GH01I153606	153606662	153618256	2.74	[{'connected_gene': 'S100A16', 'score': 556.78}, {'connected_gene': 'S100A14', 'score': 553.15}, {'connected_gene': 'S100A1', 'score': 34.99}, {'connected_gene': 'SNAPIN', 'score': 10.72}, {'connected_gene': 'ILF2', 'score': 10.44}, {'connected_gene': 'ENSG00000233222', 'score': 9.39}, {'connected_gene': 'ENSG00000243613', 'score': 9.39}, {'connected_gene': 'INTS3', 'score': 9.23}, {'connected_gene': 'S100A13', 'score': 4.77}, {'connected_gene': 'ENSG00000272030', 'score': 4.4}, {'connected_gene': 'S100A6', 'score': 2.92}, {'connected_gene': 'S100A2', 'score': 2.76}, {'connected_gene': 'S100A7L2', 'score': 1.7}, {'connected_gene': 'PGLYRP4', 'score': 1.66}, {'connected_gene': 'PGLYRP3', 'score': 1.55}, {'connected_gene': 'S100A7A', 'score': 1.27}, {'connected_gene': 'GC01P153610', 'score': 0.44}, {'connected_gene': 'GC01M153608', 'score': 0.44}, {'connected_gene': 'GC01M153607', 'score': 0.44}]