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
ENST00000368799	[[152274650, 152287223], [152287794, 152287953], [152297664, 152297679]]	[[152275175, 152287223], [152287794, 152287932]]
NM_002016	[[152274650, 152287223], [152287794, 152287953], [152297664, 152297679]]	[[152275175, 152287223], [152287794, 152287932]]

Promoter

Chrom	Start	End	Description
chr1	152286909	152286919	CAGE_peak_2_at_FLG_5end
chr1	152287109	152287120	CAGE_peak_3_at_FLG_5end
chr1	152297708	152297722	CAGE_peak_1_at_FLG_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I151545	151545321	151550228	1.45	[{'connected_gene': 'MIR554', 'score': 550.77}, {'connected_gene': 'GC01P151546', 'score': 550.77}, {'connected_gene': 'TUFT1', 'score': 9.0}, {'connected_gene': 'FLG', 'score': 6.44}, {'connected_gene': 'TDRKH-AS1', 'score': 6.05}, {'connected_gene': 'LINGO4', 'score': 4.89}, {'connected_gene': 'RPS10P6', 'score': 0.44}, {'connected_gene': 'ENSG00000232536', 'score': 0.44}]
chr1	GH01I152392	152392945	152393094	0.89	[{'connected_gene': 'MRPL9', 'score': 28.86}, {'connected_gene': 'POGZ', 'score': 19.92}, {'connected_gene': 'RPS10P6', 'score': 11.79}, {'connected_gene': 'FLG2', 'score': 10.84}, {'connected_gene': 'HRNR', 'score': 9.88}, {'connected_gene': 'PSMB4', 'score': 9.88}, {'connected_gene': 'FLG', 'score': 9.8}, {'connected_gene': 'HMGN3P1', 'score': 0.44}, {'connected_gene': 'GC01P152378', 'score': 0.39}, {'connected_gene': 'FLG-AS1', 'score': 0.07}]
chr1	GH01I152070	152070976	152071834	0.79	[{'connected_gene': 'S100A11', 'score': 12.48}, {'connected_gene': 'TCHH', 'score': 11.67}, {'connected_gene': 'ENSG00000226716', 'score': 11.64}, {'connected_gene': 'PUDPP2', 'score': 11.54}, {'connected_gene': 'FLG', 'score': 9.77}, {'connected_gene': 'SPTLC1P4', 'score': 0.44}, {'connected_gene': 'LOC101927949', 'score': 0.34}]
chr1	GH01I151824	151824628	151833643	1.89	[{'connected_gene': 'RORC', 'score': 550.77}, {'connected_gene': 'ZNF687', 'score': 12.81}, {'connected_gene': 'PIP5K1A', 'score': 11.6}, {'connected_gene': 'SETDB1', 'score': 11.43}, {'connected_gene': 'LINGO4', 'score': 8.52}, {'connected_gene': 'FLG-AS1', 'score': 7.24}, {'connected_gene': 'THEM4', 'score': 5.13}, {'connected_gene': 'ENSG00000269621', 'score': 4.99}, {'connected_gene': 'FLG', 'score': 4.98}, {'connected_gene': 'OAZ3', 'score': 4.37}, {'connected_gene': 'GC01P151821', 'score': 0.44}]
chr1	GH01I151508	151508650	151517587	2.74	[{'connected_gene': 'CGN', 'score': 565.95}, {'connected_gene': 'ARNT', 'score': 18.45}, {'connected_gene': 'SETDB1', 'score': 17.38}, {'connected_gene': 'PI4KB', 'score': 13.55}, {'connected_gene': 'GOLPH3L', 'score': 13.14}, {'connected_gene': 'UBE2D3P3', 'score': 12.99}, {'connected_gene': 'CTSK', 'score': 12.04}, {'connected_gene': 'RPS10P6', 'score': 12.03}, {'connected_gene': 'ZNF687', 'score': 11.58}, {'connected_gene': 'PIP5K1A', 'score': 11.32}, {'connected_gene': 'MRPL9', 'score': 10.36}, {'connected_gene': 'GABPB2', 'score': 10.25}, {'connected_gene': 'PSMB4', 'score': 9.99}, {'connected_gene': 'RN7SL444P', 'score': 9.72}, {'connected_gene': 'FLG', 'score': 6.84}, {'connected_gene': 'C1orf56', 'score': 4.32}, {'connected_gene': 'TUFT1', 'score': 3.36}, {'connected_gene': 'C2CD4D', 'score': 1.82}, {'connected_gene': 'RORC', 'score': 1.75}, {'connected_gene': 'SELENBP1', 'score': 1.35}, {'connected_gene': 'ENSG00000252840', 'score': 0.39}]
chr1	GH01I152412	152412731	152413709	0.2	[{'connected_gene': 'CRNN', 'score': 550.77}, {'connected_gene': 'FLG2', 'score': 9.99}, {'connected_gene': 'FLG', 'score': 9.01}, {'connected_gene': 'GC01P152408', 'score': 0.77}, {'connected_gene': 'FLG-AS1', 'score': 0.07}]
chr1	GH01I152188	152188425	152189801	1.29	[{'connected_gene': 'FLG-AS1', 'score': 29.22}, {'connected_gene': 'HRNR', 'score': 18.25}, {'connected_gene': 'FLG', 'score': 13.28}, {'connected_gene': 'PIR41917', 'score': 0.77}, {'connected_gene': 'PUDPP2', 'score': 0.44}]
chr1	GH01I152182	152182240	152184155	0.76	[{'connected_gene': 'THEM5', 'score': 5.0}, {'connected_gene': 'FLG', 'score': 4.33}, {'connected_gene': 'PIR41917', 'score': 0.44}, {'connected_gene': 'PUDPP2', 'score': 0.39}, {'connected_gene': 'FLG-AS1', 'score': 0.37}]
chr1	GH01I152446	152446218	152451632	0.38	[{'connected_gene': 'FLG', 'score': 17.39}, {'connected_gene': 'S100A11', 'score': 14.89}, {'connected_gene': 'CRNN', 'score': 13.2}, {'connected_gene': 'FLG2', 'score': 10.28}, {'connected_gene': 'HRNR', 'score': 10.1}, {'connected_gene': 'FLG-AS1', 'score': 5.23}, {'connected_gene': 'PIR42758', 'score': 0.31}, {'connected_gene': 'LCE5A', 'score': 0.21}]
chr1	GH01I152426	152426925	152428489	0.31	[{'connected_gene': 'FLG', 'score': 15.98}, {'connected_gene': 'CRNN', 'score': 13.12}, {'connected_gene': 'FLG2', 'score': 10.66}, {'connected_gene': 'HRNR', 'score': 9.83}, {'connected_gene': 'RPTN', 'score': 9.71}, {'connected_gene': 'PIR42758', 'score': 0.44}, {'connected_gene': 'LCE5A', 'score': 0.18}, {'connected_gene': 'FLG-AS1', 'score': 0.07}]
chr1	GH01I152409	152409438	152412682	0.31	[{'connected_gene': 'FLG', 'score': 15.09}, {'connected_gene': 'CRNN', 'score': 11.14}, {'connected_gene': 'FLG2', 'score': 9.99}, {'connected_gene': 'FLG-AS1', 'score': 6.18}, {'connected_gene': 'GC01P152408', 'score': 0.77}]
chr1	GH01I152436	152436852	152439397	0.2	[{'connected_gene': 'FLG', 'score': 16.2}, {'connected_gene': 'CRNN', 'score': 13.22}, {'connected_gene': 'PIR42758', 'score': 0.37}, {'connected_gene': 'LCE5A', 'score': 0.19}, {'connected_gene': 'FLG-AS1', 'score': 0.06}]
chr1	GH01I152325	152325229	152325288	0.5	[{'connected_gene': 'FLG', 'score': 550.77}, {'connected_gene': 'PIR56353', 'score': 0.29}, {'connected_gene': 'FLG-AS1', 'score': 0.1}]
chr1	GH01I152417	152417723	152420776	0.31	[{'connected_gene': 'PIR42758', 'score': 550.77}, {'connected_gene': 'CRNN', 'score': 13.35}, {'connected_gene': 'FLG', 'score': 6.35}, {'connected_gene': 'FLG-AS1', 'score': 0.07}]
chr1	GH01I152229	152229005	152229114	0.31	[{'connected_gene': 'ENSG00000236427', 'score': 11.21}, {'connected_gene': 'FLG', 'score': 9.97}, {'connected_gene': 'TCHH', 'score': 9.79}, {'connected_gene': 'FLG2', 'score': 9.62}, {'connected_gene': 'HRNR', 'score': 0.77}, {'connected_gene': 'FLG-AS1', 'score': 0.21}, {'connected_gene': 'PIR46233', 'score': 0.19}]