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
ENST00000585421	[[76849058, 76851946], [76853603, 76853728], [76866979, 76867088], [76869900, 76870001], [76870110, 76870232]]	[[76851748, 76851946], [76853603, 76853728], [76866979, 76867088]]
ENST00000536189	[[76849058, 76851946], [76853603, 76853728], [76866979, 76867088], [76869900, 76870001], [76918291, 76918483]]	[[76851748, 76851946], [76853603, 76853728], [76866979, 76867088]]
ENST00000262768	[[76849058, 76851946], [76853603, 76853728], [76866979, 76867088], [76869900, 76870001], [76921040, 76921469]]	[[76851748, 76851946], [76853603, 76853728], [76866979, 76867088], [76869900, 76870001], [76921040, 76921170]]
ENST00000586057	[[76849062, 76851946], [76853603, 76853728], [76866979, 76867088], [76869900, 76870171]]	[[76851748, 76851946], [76853603, 76853728], [76866979, 76867088]]
ENST00000592761	[[76851623, 76851946], [76852045, 76853728], [76866979, 76867088], [76869900, 76870218]]	[[76853507, 76853728], [76866979, 76867088]]
NM_003255	[[76849058, 76851946], [76853603, 76853728], [76866979, 76867088], [76869900, 76870001], [76921040, 76921472]]	[[76851748, 76851946], [76853603, 76853728], [76866979, 76867088], [76869900, 76870001], [76921040, 76921170]]

Promoter

Chrom	Start	End	Description
chr17	76850216	76850253	CAGE_peak_8_at_TIMP2_5end
chr17	76850381	76850397	CAGE_peak_3_at_TIMP2_5end
chr17	76850613	76850641	CAGE_peak_5_at_TIMP2_5end
chr17	76850688	76850705	CAGE_peak_9_at_TIMP2_5end
chr17	76850731	76850752	CAGE_peak_12_at_TIMP2_5end
chr17	76850998	76851023	CAGE_peak_7_at_TIMP2_5end
chr17	76851179	76851237	CAGE_peak_2_at_TIMP2_5end
chr17	76851239	76851259	CAGE_peak_4_at_TIMP2_5end
chr17	76851266	76851308	CAGE_peak_6_at_TIMP2_5end
chr17	76851343	76851364	CAGE_peak_11_at_TIMP2_5end
chr17	76869985	76870007	CAGE_peak_16_at_TIMP2_5end
chr17	76870102	76870114	CAGE_peak_35_at_TIMP2_5end
chr17	76870126	76870201	CAGE_peak_10_at_TIMP2_5end
chr17	76870222	76870242	CAGE_peak_15_at_TIMP2_5end
chr17	76921459	76921478	CAGE_peak_1_at_TIMP2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr17	GH17I078954	78954844	78955118	0.55	[{'connected_gene': 'TK1', 'score': 5.29}, {'connected_gene': 'CYTH1', 'score': 1.5}, {'connected_gene': 'GC17P078963', 'score': 0.44}, {'connected_gene': 'TIMP2', 'score': 0.31}]
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	GH17I078958	78958238	78959358	0.93	[{'connected_gene': 'LGALS3BP', 'score': 12.99}, {'connected_gene': 'USP36', 'score': 12.26}, {'connected_gene': 'GC17P078963', 'score': 0.77}, {'connected_gene': 'TIMP2', 'score': 0.29}]
chr17	GH17I078852	78852627	78853608	0.85	[{'connected_gene': 'CANT1', 'score': 10.51}, {'connected_gene': 'RNU6-638P', 'score': 9.63}, {'connected_gene': 'ENSG00000267601', 'score': 0.77}, {'connected_gene': 'RPL9P29', 'score': 0.44}, {'connected_gene': 'TIMP2', 'score': 0.19}]
chr17	GH17I078939	78939421	78941117	0.84	[{'connected_gene': 'C1QTNF1', 'score': 10.01}, {'connected_gene': 'TIMP2', 'score': 0.39}, {'connected_gene': 'GC17P078963', 'score': 0.34}]
chr17	GH17I078946	78946481	78948617	1.16	[{'connected_gene': 'RNU6-638P', 'score': 9.28}, {'connected_gene': 'ENSG00000267491', 'score': 5.37}, {'connected_gene': 'GC17P078963', 'score': 0.39}, {'connected_gene': 'TIMP2', 'score': 0.34}]
chr17	GH17I078284	78284111	78285754	0.8	[{'connected_gene': 'LINC01993', 'score': 6.22}, {'connected_gene': 'TIMP2', 'score': 5.58}, {'connected_gene': 'LOC105371912', 'score': 0.29}]
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	GH17I078861	78861041	78863449	1.63	[{'connected_gene': 'GC17P078863', 'score': 550.77}, {'connected_gene': 'PGS1', 'score': 4.64}, {'connected_gene': 'USP36', 'score': 3.23}, {'connected_gene': 'CYTH1', 'score': 2.55}, {'connected_gene': 'ENGASE', 'score': 2.53}, {'connected_gene': 'ENSG00000267601', 'score': 0.44}, {'connected_gene': 'TIMP2', 'score': 0.21}]
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	GH17I078927	78927202	78927957	0.2	[{'connected_gene': 'ENSG00000267491', 'score': 6.68}, {'connected_gene': 'TIMP2', 'score': 0.77}, {'connected_gene': 'GC17P078963', 'score': 0.29}]
chr17	GH17I078854	78854436	78856844	0.78	[{'connected_gene': 'ENSG00000267601', 'score': 550.77}, {'connected_gene': 'GC17P078863', 'score': 0.44}, {'connected_gene': 'TIMP2', 'score': 0.2}]
chr17	GH17I078957	78957179	78957328	0.4	[{'connected_gene': 'GC17P078963', 'score': 0.44}, {'connected_gene': 'TIMP2', 'score': 0.29}]
chr17	GH17I078951	78951304	78954569	0.8	[{'connected_gene': 'GC17P078963', 'score': 0.44}, {'connected_gene': 'TIMP2', 'score': 0.31}]
chr17	GH17I078865	78865602	78866999	1.29	[{'connected_gene': 'GC17P078863', 'score': 0.77}, {'connected_gene': 'PIR59444', 'score': 0.39}, {'connected_gene': 'TIMP2', 'score': 0.22}]
chr17	GH17I078867	78867139	78869157	0.51	[{'connected_gene': 'GC17P078863', 'score': 0.77}, {'connected_gene': 'PIR59444', 'score': 0.39}, {'connected_gene': 'TIMP2', 'score': 0.22}]
chr17	GH17I078928	78928082	78928725	0.43	[{'connected_gene': 'ENSG00000267491', 'score': 6.81}, {'connected_gene': 'TIMP2', 'score': 0.77}, {'connected_gene': 'GC17P078963', 'score': 0.29}]
chr17	GH17I078960	78960769	78963806	1.31	[{'connected_gene': 'GC17P078963', 'score': 550.77}, {'connected_gene': 'TIMP2', 'score': 0.28}]
chr17	GH17I078930	78929130	78929370	0.2	[{'connected_gene': 'ENSG00000267491', 'score': 9.05}, {'connected_gene': 'TIMP2', 'score': 0.77}, {'connected_gene': 'GC17P078963', 'score': 0.29}]
chr17	GH17I078908	78908475	78909107	0.66	[{'connected_gene': 'ENSG00000267491', 'score': 11.36}, {'connected_gene': 'PIR33852', 'score': 0.37}, {'connected_gene': 'TIMP2', 'score': 0.37}]
chr17	GH17I078955	78955942	78957035	0.58	[{'connected_gene': 'GC17P078963', 'score': 0.44}, {'connected_gene': 'TIMP2', 'score': 0.29}]
chr17	GH17I078914	78914750	78919511	1.2	[{'connected_gene': 'ENSG00000267491', 'score': 9.95}, {'connected_gene': 'USP36', 'score': 6.65}, {'connected_gene': 'CANT1', 'score': 6.33}, {'connected_gene': 'CYTH1', 'score': 2.44}, {'connected_gene': 'PIR33852', 'score': 0.44}, {'connected_gene': 'TIMP2', 'score': 0.44}]
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	GH17I078855	78854119	78854268	0.84	[{'connected_gene': 'ENSG00000267601', 'score': 550.77}, {'connected_gene': 'CANT1', 'score': 10.51}, {'connected_gene': 'RNU6-638P', 'score': 9.63}, {'connected_gene': 'RPL9P29', 'score': 0.44}, {'connected_gene': 'TIMP2', 'score': 0.19}]
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}]