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
ENST00000274056	[[164445449, 164450198], [164466747, 164466895], [164506900, 164507081], [164534465, 164534545], [164621964, 164622015], [164775172, 164775330]]	[[164449899, 164450198], [164466747, 164466895], [164506900, 164507081], [164534465, 164534545], [164621964, 164622015], [164775172, 164775283]]
ENST00000503008	[[164445869, 164450198], [164466747, 164466895], [164506900, 164507081], [164534465, 164534545], [164621964, 164622015], [164775172, 164775321], [165032739, 165032814], [165304338, 165305202]]	[[164449899, 164450198], [164466747, 164466895], [164506900, 164507081], [164534465, 164534545], [164621964, 164622015], [164775172, 164775283]]
ENST00000514618	[[164448122, 164450198], [164466747, 164466895], [164506900, 164507081], [164533422, 164534190], [164534465, 164534545], [164621964, 164622015], [164775172, 164775321], [164909652, 164909861], [165032739, 165032814], [165305021, 165305187]]	[[164449899, 164450198], [164466747, 164466895], [164506900, 164507081], [164533422, 164534190], [164534465, 164534545], [164621964, 164622015], [164775172, 164775283]]
ENST00000507270	[[164506900, 164507081], [164534465, 164534545], [164621964, 164622015], [164775172, 164775321], [165032739, 165032814], [165305021, 165305141]]	[[164506900, 164507081], [164534465, 164534545], [164621964, 164622015], [164775172, 164775283]]
ENST00000510696	[[164534518, 164534545], [164621964, 164622015], [164909652, 164910073]]	None
ENST00000503104	[[164621987, 164622015], [164775172, 164775321], [164909652, 164909861], [165032739, 165032814], [165051138, 165051215], [165056571, 165056649]]	None
ENST00000339875	[[164448272, 164450198], [164466747, 164466895], [164506900, 164507081], [164534465, 164534686]]	[[164449899, 164450198], [164466747, 164466895], [164506900, 164507081], [164534465, 164534656]]
ENST00000510786	[[164449801, 164450198], [164466747, 164466895], [164477000, 164477125], [164506900, 164507081], [164534465, 164534665]]	[[164477062, 164477125], [164506900, 164507081], [164534465, 164534656]]
ENST00000508725	[[164909694, 164909861], [165032739, 165032814], [165155984, 165156068], [165304338, 165304669]]	None
ENST00000505391	[[164909697, 164909861], [165032739, 165032814], [165251081, 165251308], [165305021, 165305105]]	None
ENST00000515471	[[164909732, 164909861], [165032739, 165032814], [165304338, 165304718]]	None
ENST00000510075	[[164976328, 164976426], [165032739, 165032814], [165051138, 165051215], [165304338, 165304669]]	None
ENST00000512214	[[164504804, 164507081], [164533422, 164534057]]	None
ENST00000505517	[[164506743, 164507081], [164534465, 164534685]]	None
ENST00000511245	[[164533833, 164534190], [164534465, 164534662]]	None
NM_001166373	[[164445449, 164450198], [164466747, 164466895], [164506900, 164507081], [164534465, 164534545], [164621964, 164622015], [164775172, 164775321], [165032739, 165032814], [165304338, 165304407]]	[[164449899, 164450198], [164466747, 164466895], [164506900, 164507081], [164534465, 164534545], [164621964, 164622015], [164775172, 164775283]]
NM_017923	[[164445449, 164450198], [164466747, 164466895], [164506900, 164507081], [164534465, 164534776]]	[[164449899, 164450198], [164466747, 164466895], [164506900, 164507081], [164534465, 164534656]]

Promoter

Chrom	Start	End	Description
chr4	164534145	164534178	CAGE_peak_4_at_MARCH1_5end
chr4	164534657	164534701	CAGE_peak_1_at_MARCH1_5end
chr4	164909684	164909708	CAGE_peak_13_at_MARCH1_5end
chr4	164909713	164909733	CAGE_peak_10_at_MARCH1_5end
chr4	165056668	165056683	CAGE_peak_15_at_MARCH1_5end
chr4	165304401	165304415	CAGE_peak_6_at_MARCH1_5end
chr4	165304550	165304562	CAGE_peak_11_at_MARCH1_5end
chr4	165304578	165304589	CAGE_peak_7_at_MARCH1_5end
chr4	165304597	165304612	CAGE_peak_5_at_MARCH1_5end
chr4	165304614	165304693	CAGE_peak_3_at_MARCH1_5end
chr4	165305086	165305179	CAGE_peak_2_at_MARCH1_5end
chr4	165305289	165305300	CAGE_peak_19_at_MARCH1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr4	GH04I163571	163571051	163571276	0.22	[{'connected_gene': 'TKTL2', 'score': 10.35}, {'connected_gene': 'MARCH1', 'score': 6.15}, {'connected_gene': 'NAF1', 'score': 4.08}, {'connected_gene': 'ENSG00000273449', 'score': 0.26}, {'connected_gene': 'PIR37872', 'score': 0.07}]
chr4	GH04I163568	163568552	163569698	0.31	[{'connected_gene': 'TKTL2', 'score': 10.35}, {'connected_gene': 'ENSG00000273449', 'score': 0.28}, {'connected_gene': 'PIR37872', 'score': 0.07}, {'connected_gene': 'MARCH1', 'score': 0.03}]
chr4	GH04I163949	163949956	163950089	0.26	[{'connected_gene': 'YWHAQP4', 'score': 0.37}, {'connected_gene': 'GC04P164189', 'score': 0.07}, {'connected_gene': 'GC04M163839', 'score': 0.04}, {'connected_gene': 'MARCH1', 'score': 0.04}]
chr4	GH04I163543	163543051	163543198	0.26	[{'connected_gene': 'TMA16', 'score': 12.32}, {'connected_gene': 'TKTL2', 'score': 10.7}, {'connected_gene': 'MARCH1', 'score': 2.36}, {'connected_gene': 'NPY5R', 'score': 2.31}, {'connected_gene': 'NPY1R', 'score': 1.94}, {'connected_gene': 'ENSG00000273449', 'score': 0.39}, {'connected_gene': 'PIR37872', 'score': 0.06}]
chr4	GH04I163866	163866638	163867678	0.57	[{'connected_gene': 'TMA16', 'score': 12.56}, {'connected_gene': 'GC04M163825', 'score': 0.28}, {'connected_gene': 'YWHAQP4', 'score': 0.2}, {'connected_gene': 'MARCH1', 'score': 0.03}, {'connected_gene': 'GC04M163839', 'score': 0.03}]
chr4	GH04I163493	163493060	163496419	2.35	[{'connected_gene': 'TMA16', 'score': 553.1}, {'connected_gene': 'MARCH1', 'score': 47.28}, {'connected_gene': 'ENSG00000273449', 'score': 8.92}, {'connected_gene': 'TKTL2', 'score': 1.55}]
chr4	GH04I163607	163607009	163607198	0.77	[{'connected_gene': 'MARCH1', 'score': 2.8}, {'connected_gene': 'NAF1', 'score': 2.2}, {'connected_gene': 'ENSG00000273449', 'score': 0.18}, {'connected_gene': 'PIR37872', 'score': 0.08}]
chr4	GH04I163550	163550001	163550800	1.39	[{'connected_gene': 'MARCH1', 'score': 19.86}, {'connected_gene': 'TMA16', 'score': 12.37}, {'connected_gene': 'TKTL2', 'score': 10.59}, {'connected_gene': 'ENSG00000273449', 'score': 0.34}, {'connected_gene': 'PIR37872', 'score': 0.07}]
chr4	GH04I163540	163540565	163542395	0.43	[{'connected_gene': 'MARCH1', 'score': 53.23}, {'connected_gene': 'TMA16', 'score': 12.32}, {'connected_gene': 'TKTL2', 'score': 10.7}, {'connected_gene': 'ENSG00000273449', 'score': 0.39}, {'connected_gene': 'PIR37872', 'score': 0.06}]
chr4	GH04I163535	163535774	163536756	0.51	[{'connected_gene': 'MARCH1', 'score': 47.68}, {'connected_gene': 'TMA16', 'score': 12.28}, {'connected_gene': 'TKTL2', 'score': 10.68}, {'connected_gene': 'ENSG00000273449', 'score': 0.44}, {'connected_gene': 'PIR37872', 'score': 0.06}]
chr4	GH04I163544	163544201	163545639	1.08	[{'connected_gene': 'MARCH1', 'score': 48.75}, {'connected_gene': 'TMA16', 'score': 12.31}, {'connected_gene': 'TKTL2', 'score': 10.57}, {'connected_gene': 'ENSG00000273449', 'score': 0.37}, {'connected_gene': 'PIR37872', 'score': 0.06}]
chr4	GH04I163622	163622201	163623200	0.65	[{'connected_gene': 'MARCH1', 'score': 7.75}, {'connected_gene': 'TMA16', 'score': 4.76}, {'connected_gene': 'ENSG00000273449', 'score': 0.16}, {'connected_gene': 'PIR37872', 'score': 0.08}]
chr4	GH04I164383	164383115	164384418	1.14	[{'connected_gene': 'MARCH1', 'score': 550.77}, {'connected_gene': 'GC04M163839', 'score': 0.26}, {'connected_gene': 'ANP32C', 'score': 0.09}]
chr4	GH04I163610	163610773	163614158	1.99	[{'connected_gene': 'MARCH1', 'score': 566.97}, {'connected_gene': 'ENSG00000273449', 'score': 0.18}, {'connected_gene': 'PIR37872', 'score': 0.08}]
chr4	GH04I163564	163564929	163564942	0.42	[{'connected_gene': 'MARCH1', 'score': 1.24}, {'connected_gene': 'ENSG00000273449', 'score': 0.28}, {'connected_gene': 'PIR37872', 'score': 0.07}]
chr4	GH04I163561	163561920	163564103	0.2	[{'connected_gene': 'MARCH1', 'score': 6.52}, {'connected_gene': 'ENSG00000273449', 'score': 0.29}, {'connected_gene': 'PIR37872', 'score': 0.07}]
chr4	GH04I163577	163577691	163579100	0.2	[{'connected_gene': 'MARCH1', 'score': 5.28}, {'connected_gene': 'ENSG00000273449', 'score': 0.25}, {'connected_gene': 'PIR37872', 'score': 0.07}]
chr4	GH04I164570	164570670	164574099	0.46	[{'connected_gene': 'MARCH1', 'score': 10.28}, {'connected_gene': 'ENSG00000251162', 'score': 0.31}, {'connected_gene': 'GC04M163839', 'score': 0.11}]
chr4	GH04I163662	163662482	163667400	1.17	[{'connected_gene': 'MARCH1', 'score': 4.1}, {'connected_gene': 'ENSG00000273449', 'score': 0.12}, {'connected_gene': 'PIR37872', 'score': 0.11}]
chr4	GH04I164439	164439704	164441188	0.49	[{'connected_gene': 'MARCH1', 'score': 10.6}, {'connected_gene': 'GC04M163839', 'score': 0.37}, {'connected_gene': 'ENSG00000251162', 'score': 0.1}]
chr4	GH04I163590	163590401	163593200	1.4	[{'connected_gene': 'MARCH1', 'score': 10.91}, {'connected_gene': 'ENSG00000273449', 'score': 0.21}, {'connected_gene': 'PIR37872', 'score': 0.07}]
chr4	GH04I163581	163581194	163583621	0.31	[{'connected_gene': 'MARCH1', 'score': 4.54}, {'connected_gene': 'ENSG00000273449', 'score': 0.23}, {'connected_gene': 'PIR37872', 'score': 0.07}]
chr4	GH04I163600	163600601	163601600	0.51	[{'connected_gene': 'MARCH1', 'score': 6.02}, {'connected_gene': 'ENSG00000273449', 'score': 0.19}, {'connected_gene': 'PIR37872', 'score': 0.08}]
chr4	GH04I164410	164410498	164410651	0.25	[{'connected_gene': 'MARCH1', 'score': 11.73}, {'connected_gene': 'GC04M163839', 'score': 0.39}]
chr4	GH04I164203	164203427	164205478	0.76	[{'connected_gene': 'ANP32C', 'score': 0.44}, {'connected_gene': 'MARCH1', 'score': 0.1}, {'connected_gene': 'GC04M163839', 'score': 0.08}]
chr4	GH04I163859	163859261	163859384	0.22	[{'connected_gene': 'GC04M163825', 'score': 0.31}, {'connected_gene': 'YWHAQP4', 'score': 0.19}, {'connected_gene': 'MARCH1', 'score': 0.03}, {'connected_gene': 'GC04M163839', 'score': 0.03}]
chr4	GH04I163528	163528033	163529942	0.2	[{'connected_gene': 'ENSG00000273449', 'score': 550.77}, {'connected_gene': 'MARCH1', 'score': 48.78}, {'connected_gene': 'TKTL2', 'score': 10.87}, {'connected_gene': 'TMA16', 'score': 5.6}]
chr4	GH04I163674	163674201	163674800	0.31	[{'connected_gene': 'PIR37872', 'score': 0.12}, {'connected_gene': 'ENSG00000273449', 'score': 0.11}, {'connected_gene': 'MARCH1', 'score': 0.03}]
chr4	GH04I163810	163810909	163811058	0.59	[{'connected_gene': 'PIR37872', 'score': 0.77}, {'connected_gene': 'ENSG00000273449', 'score': 0.06}, {'connected_gene': 'MARCH1', 'score': 0.03}]
chr4	GH04I163681	163681329	163681458	0.46	[{'connected_gene': 'PIR37872', 'score': 0.12}, {'connected_gene': 'ENSG00000273449', 'score': 0.1}, {'connected_gene': 'MARCH1', 'score': 0.03}]
chr4	GH04I163587	163587929	163588078	0.92	[{'connected_gene': 'ENSG00000273449', 'score': 0.22}, {'connected_gene': 'PIR37872', 'score': 0.07}, {'connected_gene': 'MARCH1', 'score': 0.03}]
chr4	GH04I163557	163557201	163559730	0.78	[{'connected_gene': 'ENSG00000273449', 'score': 0.31}, {'connected_gene': 'PIR37872', 'score': 0.07}, {'connected_gene': 'MARCH1', 'score': 0.03}]
chr4	GH04I163621	163621601	163622000	0.4	[{'connected_gene': 'ENSG00000273449', 'score': 0.16}, {'connected_gene': 'PIR37872', 'score': 0.08}, {'connected_gene': 'MARCH1', 'score': 0.03}]
chr4	GH04I163605	163604001	163604200	0.51	[{'connected_gene': 'ENSG00000273449', 'score': 0.19}, {'connected_gene': 'PIR37872', 'score': 0.08}, {'connected_gene': 'MARCH1', 'score': 0.03}]
chr4	GH04I163701	163701609	163702753	0.66	[{'connected_gene': 'PIR37872', 'score': 0.14}, {'connected_gene': 'ENSG00000273449', 'score': 0.09}, {'connected_gene': 'MARCH1', 'score': 0.03}]
chr4	GH04I163693	163693189	163695198	0.63	[{'connected_gene': 'PIR37872', 'score': 0.13}, {'connected_gene': 'ENSG00000273449', 'score': 0.1}, {'connected_gene': 'MARCH1', 'score': 0.03}]
chr4	GH04I163767	163767095	163767292	0.22	[{'connected_gene': 'PIR37872', 'score': 0.25}, {'connected_gene': 'ENSG00000273449', 'score': 0.07}, {'connected_gene': 'MARCH1', 'score': 0.03}]
chr4	GH04I163595	163595555	163596400	0.4	[{'connected_gene': 'ENSG00000273449', 'score': 0.2}, {'connected_gene': 'PIR37872', 'score': 0.08}, {'connected_gene': 'MARCH1', 'score': 0.02}]
chr4	GH04I163604	163604401	163604600	0.4	[{'connected_gene': 'ENSG00000273449', 'score': 0.19}, {'connected_gene': 'PIR37872', 'score': 0.08}, {'connected_gene': 'MARCH1', 'score': 0.03}]
chr4	GH04I163819	163819849	163820081	0.22	[{'connected_gene': 'PIR37872', 'score': 0.44}, {'connected_gene': 'RN7SKP105', 'score': 0.44}, {'connected_gene': 'MARCH1', 'score': 0.03}]