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

Promoter

Chrom	Start	End	Description
chr16	50059125	50059180	CAGE_peak_1_at_TMEM188_5end
chr16	50059183	50059199	CAGE_peak_2_at_TMEM188_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr16	GH16I050262	50262741	50263032	0.57	[{'connected_gene': 'PAPD5', 'score': 11.2}, {'connected_gene': 'ENSG00000252526', 'score': 11.19}, {'connected_gene': 'BRD7', 'score': 10.85}, {'connected_gene': 'CNEP1R1', 'score': 10.67}, {'connected_gene': 'GC16P050277', 'score': 0.44}, {'connected_gene': 'ADCY7', 'score': 0.37}]
chr16	GH16I050151	50151808	50156359	2.08	[{'connected_gene': 'PAPD5', 'score': 550.77}, {'connected_gene': 'LOC101927250', 'score': 550.77}, {'connected_gene': 'HEATR3', 'score': 22.86}, {'connected_gene': 'SNX20', 'score': 11.66}, {'connected_gene': 'CNEP1R1', 'score': 10.71}, {'connected_gene': 'BRD7', 'score': 9.48}, {'connected_gene': 'GC16M050159', 'score': 0.29}]
chr16	GH16I050102	50102190	50104539	0.54	[{'connected_gene': 'HEATR3', 'score': 59.74}, {'connected_gene': 'ENSG00000252526', 'score': 11.39}, {'connected_gene': 'PAPD5', 'score': 11.39}, {'connected_gene': 'CNEP1R1', 'score': 10.72}, {'connected_gene': 'GC16P050105', 'score': 0.77}, {'connected_gene': 'RNY4P3', 'score': 0.44}, {'connected_gene': 'LOC101927250', 'score': 0.25}]
chr16	GH16I050201	50201557	50205606	1.07	[{'connected_gene': 'HEATR3', 'score': 23.77}, {'connected_gene': 'ENSG00000252526', 'score': 11.91}, {'connected_gene': 'PAPD5', 'score': 11.91}, {'connected_gene': 'CNEP1R1', 'score': 11.32}, {'connected_gene': 'BRD7', 'score': 10.54}, {'connected_gene': 'GC16M050159', 'score': 0.37}, {'connected_gene': 'ADCY7', 'score': 0.26}]
chr16	GH16I050207	50207420	50211062	1.05	[{'connected_gene': 'HEATR3', 'score': 26.68}, {'connected_gene': 'ENSG00000252526', 'score': 12.08}, {'connected_gene': 'PAPD5', 'score': 12.08}, {'connected_gene': 'CNEP1R1', 'score': 11.27}, {'connected_gene': 'BRD7', 'score': 10.97}, {'connected_gene': 'GC16M050159', 'score': 0.34}, {'connected_gene': 'ADCY7', 'score': 0.28}]
chr16	GH16I050037	50037401	50040399	1.16	[{'connected_gene': 'HEATR3', 'score': 26.67}, {'connected_gene': 'BRD7', 'score': 10.13}, {'connected_gene': 'CNEP1R1', 'score': 2.32}, {'connected_gene': 'ZNF423', 'score': 1.88}, {'connected_gene': 'GC16P050035', 'score': 0.77}, {'connected_gene': 'PIR40425', 'score': 0.77}, {'connected_gene': 'LOC100130602', 'score': 0.44}]
chr16	GH16I050156	50156650	50156799	0.43	[{'connected_gene': 'HEATR3', 'score': 11.02}, {'connected_gene': 'CNEP1R1', 'score': 10.27}, {'connected_gene': 'BRD7', 'score': 9.48}, {'connected_gene': 'PAPD5', 'score': 0.77}, {'connected_gene': 'LOC101927250', 'score': 0.77}, {'connected_gene': 'GC16M050159', 'score': 0.31}]
chr16	GH16I050160	50160241	50161555	0.65	[{'connected_gene': 'HEATR3', 'score': 11.02}, {'connected_gene': 'CNEP1R1', 'score': 10.27}, {'connected_gene': 'BRD7', 'score': 10.01}, {'connected_gene': 'PAPD5', 'score': 0.44}, {'connected_gene': 'LOC101927250', 'score': 0.44}, {'connected_gene': 'GC16M050159', 'score': 0.34}]
chr16	GH16I050093	50093146	50094639	1.05	[{'connected_gene': 'HEATR3', 'score': 55.81}, {'connected_gene': 'CNEP1R1', 'score': 1.79}, {'connected_gene': 'ADCY7', 'score': 1.72}, {'connected_gene': 'GC16P050098', 'score': 0.77}, {'connected_gene': 'ENSG00000279356', 'score': 0.34}]
chr16	GH16I050280	50280460	50285305	1.48	[{'connected_gene': 'HEATR3', 'score': 4.55}, {'connected_gene': 'ADCY7', 'score': 4.15}, {'connected_gene': 'CYLD', 'score': 1.87}, {'connected_gene': 'PAPD5', 'score': 1.62}, {'connected_gene': 'NOD2', 'score': 1.43}, {'connected_gene': 'CNEP1R1', 'score': 1.38}, {'connected_gene': 'SNX20', 'score': 1.29}, {'connected_gene': 'GC16M050269', 'score': 0.77}, {'connected_gene': 'MIR6771', 'score': 0.44}, {'connected_gene': 'GC16P050277', 'score': 0.39}]
chr16	GH16I050300	50300980	50302383	0.52	[{'connected_gene': 'BRD7', 'score': 11.89}, {'connected_gene': 'CNEP1R1', 'score': 10.37}, {'connected_gene': 'HEATR3', 'score': 4.58}, {'connected_gene': 'MIR6771', 'score': 0.44}, {'connected_gene': 'GC16P050338', 'score': 0.28}, {'connected_gene': 'ADCY7', 'score': 0.22}]
chr16	GH16I050264	50263053	50263444	0.86	[{'connected_gene': 'BRD7', 'score': 21.55}, {'connected_gene': 'CNEP1R1', 'score': 10.19}, {'connected_gene': 'GC16P050277', 'score': 0.44}, {'connected_gene': 'ADCY7', 'score': 0.37}]
chr16	GH16I050296	50296322	50299042	0.8	[{'connected_gene': 'BRD7', 'score': 10.94}, {'connected_gene': 'CNEP1R1', 'score': 10.37}, {'connected_gene': 'ENSG00000260573', 'score': 5.46}, {'connected_gene': 'MIR6771', 'score': 0.44}, {'connected_gene': 'GC16P050338', 'score': 0.26}, {'connected_gene': 'ADCY7', 'score': 0.23}]
chr16	GH16I050228	50228167	50229207	0.71	[{'connected_gene': 'CNEP1R1', 'score': 11.07}, {'connected_gene': 'ENSG00000252526', 'score': 11.01}, {'connected_gene': 'PAPD5', 'score': 11.01}, {'connected_gene': 'HEATR3', 'score': 10.82}, {'connected_gene': 'BRD7', 'score': 10.79}, {'connected_gene': 'ADCY7', 'score': 0.37}, {'connected_gene': 'GC16M050159', 'score': 0.26}]
chr16	GH16I050024	50024478	50026557	2.06	[{'connected_gene': 'CNEP1R1', 'score': 550.77}, {'connected_gene': 'HEATR3', 'score': 21.04}, {'connected_gene': 'BRD7', 'score': 9.49}, {'connected_gene': 'GC16P050020', 'score': 0.77}, {'connected_gene': 'GC16P050035', 'score': 0.39}, {'connected_gene': 'PIR40425', 'score': 0.39}]
chr16	GH16I050374	50374790	50374959	0.87	[{'connected_gene': 'CNEP1R1', 'score': 10.05}, {'connected_gene': 'ENSG00000205414', 'score': 9.67}, {'connected_gene': 'BRD7', 'score': 0.44}, {'connected_gene': 'LINC02178', 'score': 0.34}]
chr16	GH16I050372	50372270	50373928	0.89	[{'connected_gene': 'CNEP1R1', 'score': 10.05}, {'connected_gene': 'ENSG00000205414', 'score': 9.67}, {'connected_gene': 'BRD7', 'score': 0.77}, {'connected_gene': 'LINC02178', 'score': 0.34}]
chr16	GH16I049957	49957510	49958384	0.49	[{'connected_gene': 'CNEP1R1', 'score': 11.49}, {'connected_gene': 'ENSG00000283365', 'score': 0.39}, {'connected_gene': 'RPL34P29', 'score': 0.34}]
chr16	GH16I049882	49882980	49887620	0.87	[{'connected_gene': 'ZNF423', 'score': 11.66}, {'connected_gene': 'CNEP1R1', 'score': 10.19}, {'connected_gene': 'GC16M049886', 'score': 0.44}]
chr16	GH16I050263	50263790	50269590	2.47	[{'connected_gene': 'ADCY7', 'score': 552.93}, {'connected_gene': 'PAPD5', 'score': 19.33}, {'connected_gene': 'CNEP1R1', 'score': 11.83}, {'connected_gene': 'BRD7', 'score': 10.84}, {'connected_gene': 'NKD1', 'score': 5.22}, {'connected_gene': 'CYLD', 'score': 3.41}, {'connected_gene': 'GC16P050277', 'score': 0.77}]
chr16	GH16I050214	50214050	50214199	0.69	[{'connected_gene': 'ENSG00000252526', 'score': 11.5}, {'connected_gene': 'PAPD5', 'score': 11.5}, {'connected_gene': 'HEATR3', 'score': 11.18}, {'connected_gene': 'BRD7', 'score': 11.02}, {'connected_gene': 'CNEP1R1', 'score': 10.78}, {'connected_gene': 'GC16M050159', 'score': 0.31}, {'connected_gene': 'ADCY7', 'score': 0.29}]
chr16	GH16I050206	50206601	50206800	0.2	[{'connected_gene': 'ENSG00000252526', 'score': 11.91}, {'connected_gene': 'PAPD5', 'score': 11.91}, {'connected_gene': 'HEATR3', 'score': 11.5}, {'connected_gene': 'CNEP1R1', 'score': 11.26}, {'connected_gene': 'BRD7', 'score': 10.54}, {'connected_gene': 'GC16M050159', 'score': 0.34}, {'connected_gene': 'ADCY7', 'score': 0.28}]
chr16	GH16I050034	50034763	50036676	0.86	[{'connected_gene': 'GC16P050035', 'score': 550.77}, {'connected_gene': 'PIR40425', 'score': 550.77}, {'connected_gene': 'HEATR3', 'score': 49.9}, {'connected_gene': 'CNEP1R1', 'score': 0.39}, {'connected_gene': 'LOC100130602', 'score': 0.39}]
chr16	GH16I050554	50554798	50556809	0.31	[{'connected_gene': 'ENSG00000260029', 'score': 550.77}, {'connected_gene': 'ENSG00000278909', 'score': 550.77}, {'connected_gene': 'ENSG00000205414', 'score': 10.85}, {'connected_gene': 'BRD7', 'score': 10.04}, {'connected_gene': 'CNEP1R1', 'score': 9.24}, {'connected_gene': 'NKD1', 'score': 0.44}, {'connected_gene': 'PIR48968', 'score': 0.31}]
chr16	GH16I050021	50021630	50021779	0.46	[{'connected_gene': 'GC16P050020', 'score': 550.77}, {'connected_gene': 'CNEP1R1', 'score': 0.77}]

Transcript ID	Transcript exon region	Coding exon region
ENST00000458059	[[50058320, 50059251], [50059561, 50059612], [50060306, 50060378], [50063635, 50063709], [50067307, 50067417], [50068012, 50068067], [50069327, 50070999]]	[[50059226, 50059251], [50059561, 50059612], [50060306, 50060378], [50063635, 50063709], [50067307, 50067417], [50068012, 50068067], [50069327, 50069369]]
ENST00000389134	[[50059144, 50059251], [50059561, 50059612], [50060306, 50060378], [50067307, 50067417], [50068012, 50068067], [50069327, 50069511]]	[[50059226, 50059251], [50059561, 50059612], [50060306, 50060378], [50067307, 50067354]]
ENST00000568890	[[50059165, 50059251], [50060306, 50060378], [50067307, 50067417], [50068012, 50068067], [50069327, 50070996]]	[[50059226, 50059251], [50060306, 50060378], [50067307, 50067354]]
ENST00000427478	[[50059172, 50059251], [50060306, 50060378], [50063635, 50063709], [50067307, 50067417], [50068012, 50068067], [50069327, 50070988]]	[[50059226, 50059251], [50060306, 50060378], [50063635, 50063709], [50067307, 50067417], [50068012, 50068067], [50069327, 50069369]]
ENST00000562576	[[50059181, 50059251], [50060306, 50060378], [50063635, 50063709], [50067307, 50067417], [50068017, 50068067], [50069327, 50069607]]	[[50059226, 50059251], [50060306, 50060378], [50063635, 50063709], [50067307, 50067417], [50068017, 50068063]]
ENST00000565457	[[50059190, 50059251], [50060306, 50060378], [50063635, 50063709], [50067307, 50067417], [50068012, 50068067], [50069327, 50070086], [50070378, 50070991]]	[[50059226, 50059251], [50060306, 50060378], [50063635, 50063709], [50067307, 50067417], [50068012, 50068067], [50069327, 50069369]]
ENST00000565556	[[50059430, 50059612], [50060306, 50060378], [50063635, 50063709], [50067307, 50067417], [50068012, 50068067], [50069327, 50070541]]	[[50060377, 50060378], [50063635, 50063709], [50067307, 50067417], [50068012, 50068067], [50069327, 50069369]]
ENST00000567712	[[50059151, 50059256], [50059345, 50059695]]	None
ENST00000569647	[[50059172, 50059251], [50059561, 50059612], [50060306, 50060378], [50060609, 50060770]]	None
ENST00000566482	[[50059174, 50059251], [50060306, 50060378], [50067307, 50067417], [50068012, 50068579]]	[[50059226, 50059251], [50060306, 50060378], [50067307, 50067354]]
ENST00000566093	[[50060070, 50060378], [50063635, 50063709], [50067307, 50067417], [50068012, 50068067]]	[[50060377, 50060378], [50063635, 50063709], [50067307, 50067417], [50068012, 50068067]]
NR_104043	[[50059116, 50059251], [50060306, 50060378], [50067307, 50067417], [50068012, 50068067], [50069327, 50070999]]	None
NM_001281789	[[50059116, 50059251], [50060306, 50060378], [50063635, 50063709], [50067307, 50067417], [50068012, 50068067], [50069327, 50070999]]	[[50059226, 50059251], [50060306, 50060378], [50063635, 50063709], [50067307, 50067417], [50068012, 50068067], [50069327, 50069369]]
NR_104042	[[50059116, 50059251], [50059561, 50059612], [50060306, 50060378], [50067307, 50067417], [50068012, 50068067], [50069327, 50070999]]	None
NM_153261	[[50059116, 50059251], [50059561, 50059612], [50060306, 50060378], [50063635, 50063709], [50067307, 50067417], [50068012, 50068067], [50069327, 50070999]]	[[50059226, 50059251], [50059561, 50059612], [50060306, 50060378], [50063635, 50063709], [50067307, 50067417], [50068012, 50068067], [50069327, 50069369]]