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
ENST00000586713	[[76866991, 76867088], [76869900, 76870001], [76897050, 76897339], [76897866, 76898008], [76899215, 76899297]]	[[76866991, 76867088]]
ENST00000322630	[[76886661, 76888541], [76897866, 76898008], [76899215, 76899283]]	[[76886719, 76888541], [76897866, 76897910]]
ENST00000590267	[[76888246, 76888602], [76897866, 76898008], [76899215, 76899299]]	None
ENST00000587052	[[76888350, 76888602], [76897866, 76898008], [76898749, 76898853], [76899215, 76899281]]	None
NM_001243541	[[76886661, 76888602], [76897866, 76898008], [76899215, 76899299]]	[[76886719, 76888411]]
NM_001243540	[[76886661, 76888541], [76897866, 76898008], [76899215, 76899299]]	[[76886719, 76888541], [76897866, 76897910]]

Promoter

Chrom	Start	End	Description
chr17	76899275	76899302	CAGE_peak_1_at_LOC100653515_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr17	GH17I078875	78875030	78877451	1.26	[{'connected_gene': 'TIMP2', 'score': 13.74}, {'connected_gene': 'USP36', 'score': 12.18}, {'connected_gene': 'PGS1', 'score': 5.28}, {'connected_gene': 'CANT1', 'score': 2.05}, {'connected_gene': 'CYTH1', 'score': 1.44}, {'connected_gene': 'PIR59444', 'score': 0.77}, {'connected_gene': 'GC17P078863', 'score': 0.39}, {'connected_gene': 'CEP295NL', 'score': 0.31}]
chr17	GH17I078878	78878137	78887293	1.7	[{'connected_gene': 'USP36', 'score': 19.1}, {'connected_gene': 'TIMP2', 'score': 13.75}, {'connected_gene': 'CYTH1', 'score': 6.21}, {'connected_gene': 'CANT1', 'score': 6.03}, {'connected_gene': 'ENGASE', 'score': 2.05}, {'connected_gene': 'PIR59444', 'score': 0.77}, {'connected_gene': 'ENSG00000279339', 'score': 0.39}, {'connected_gene': 'CEP295NL', 'score': 0.34}]
chr17	GH17I078910	78910166	78914200	1.12	[{'connected_gene': 'USP36', 'score': 20.4}, {'connected_gene': 'TNRC6C', 'score': 14.1}, {'connected_gene': 'ENSG00000267491', 'score': 10.96}, {'connected_gene': 'CEP295NL', 'score': 9.84}, {'connected_gene': 'PIR33852', 'score': 0.39}, {'connected_gene': 'TIMP2', 'score': 0.39}]
chr17	GH17I078932	78932459	78936912	1.73	[{'connected_gene': 'USP36', 'score': 17.63}, {'connected_gene': 'C1QTNF1', 'score': 10.0}, {'connected_gene': 'ENSG00000267491', 'score': 7.63}, {'connected_gene': 'CEP295NL', 'score': 6.11}, {'connected_gene': 'CANT1', 'score': 1.72}, {'connected_gene': 'TIMP2', 'score': 0.44}, {'connected_gene': 'GC17P078963', 'score': 0.31}]
chr17	GH17I078904	78904958	78906112	0.31	[{'connected_gene': 'USP36', 'score': 11.13}, {'connected_gene': 'ENSG00000267491', 'score': 11.06}, {'connected_gene': 'CEP295NL', 'score': 10.82}, {'connected_gene': 'PIR33852', 'score': 0.37}, {'connected_gene': 'TIMP2', 'score': 0.37}]
chr17	GH17I078873	78873177	78874521	1.3	[{'connected_gene': 'USP36', 'score': 13.08}, {'connected_gene': 'PIR59444', 'score': 0.44}, {'connected_gene': 'GC17P078863', 'score': 0.39}, {'connected_gene': 'CEP295NL', 'score': 0.31}, {'connected_gene': 'TIMP2', 'score': 0.23}]
chr17	GH17I078901	78901358	78902295	0.38	[{'connected_gene': 'CEP295NL', 'score': 560.83}, {'connected_gene': 'ENSG00000267491', 'score': 560.26}, {'connected_gene': 'TMC8', 'score': 5.06}, {'connected_gene': 'GC17P078899', 'score': 0.77}, {'connected_gene': 'TIMP2', 'score': 0.34}]
chr17	GH17I078919	78919846	78926564	2.39	[{'connected_gene': 'PIR33852', 'score': 550.77}, {'connected_gene': 'TIMP2', 'score': 550.77}, {'connected_gene': 'ENSG00000267491', 'score': 9.89}, {'connected_gene': 'CANT1', 'score': 8.89}, {'connected_gene': 'CEP295NL', 'score': 5.75}, {'connected_gene': 'CYTH1', 'score': 2.23}]
chr17	GH17I078894	78894879	78901139	1.03	[{'connected_gene': 'GC17P078899', 'score': 550.77}, {'connected_gene': 'ENSG00000279339', 'score': 550.77}, {'connected_gene': 'USP36', 'score': 13.18}, {'connected_gene': 'CEP295NL', 'score': 10.94}, {'connected_gene': 'ENSG00000267491', 'score': 10.05}, {'connected_gene': 'ENGASE', 'score': 5.59}, {'connected_gene': 'TIMP2', 'score': 0.31}]
chr17	GH17I078870	78870033	78871567	0.38	[{'connected_gene': 'GC17P078863', 'score': 0.44}, {'connected_gene': 'PIR59444', 'score': 0.44}, {'connected_gene': 'CEP295NL', 'score': 0.29}, {'connected_gene': 'TIMP2', 'score': 0.23}]
chr17	GH17I078929	78929614	78930634	0.38	[{'connected_gene': 'ENSG00000267491', 'score': 6.8}, {'connected_gene': 'CEP295NL', 'score': 5.71}, {'connected_gene': 'TIMP2', 'score': 0.77}, {'connected_gene': 'GC17P078963', 'score': 0.29}]
chr17	GH17I078893	78893259	78893382	0.83	[{'connected_gene': 'ENSG00000279339', 'score': 0.77}, {'connected_gene': 'CEP295NL', 'score': 0.44}, {'connected_gene': 'PIR59444', 'score': 0.39}, {'connected_gene': 'TIMP2', 'score': 0.29}]
chr17	GH17I078872	78872659	78872748	0.88	[{'connected_gene': 'GC17P078863', 'score': 0.44}, {'connected_gene': 'PIR59444', 'score': 0.44}, {'connected_gene': 'CEP295NL', 'score': 0.29}, {'connected_gene': 'TIMP2', 'score': 0.23}]
chr17	GH17I078871	78871710	78872565	0.68	[{'connected_gene': 'GC17P078863', 'score': 0.44}, {'connected_gene': 'PIR59444', 'score': 0.44}, {'connected_gene': 'CEP295NL', 'score': 0.29}, {'connected_gene': 'TIMP2', 'score': 0.23}]
chr17	GH17I078888	78888427	78893200	1.12	[{'connected_gene': 'ENSG00000279339', 'score': 0.44}, {'connected_gene': 'CEP295NL', 'score': 0.39}, {'connected_gene': 'PIR59444', 'score': 0.39}, {'connected_gene': 'TIMP2', 'score': 0.29}]
chr17	GH17I078895	78894191	78894382	0.2	[{'connected_gene': 'ENSG00000279339', 'score': 0.77}, {'connected_gene': 'CEP295NL', 'score': 0.44}, {'connected_gene': 'PIR59444', 'score': 0.39}, {'connected_gene': 'TIMP2', 'score': 0.29}]
chr17	GH17I078902	78902693	78903852	1.39	[{'connected_gene': 'ENSG00000267491', 'score': 559.64}, {'connected_gene': 'CEP295NL', 'score': 550.77}, {'connected_gene': 'TMC8', 'score': 5.28}, {'connected_gene': 'GC17P078899', 'score': 0.77}, {'connected_gene': 'PIR33852', 'score': 0.34}, {'connected_gene': 'TIMP2', 'score': 0.34}]