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
ENST00000299601	[[52230221, 52230457], [52239488, 52239586], [52242004, 52242191], [52244040, 52244176], [52245325, 52245460], [52246677, 52246772], [52250938, 52251023], [52252095, 52252241], [52252835, 52252930], [52254585, 52254690], [52257945, 52258701], [52263884, 52264003]]	[[52230352, 52230457], [52239488, 52239586], [52242004, 52242191], [52244040, 52244176], [52245325, 52245460], [52246677, 52246772], [52250938, 52251023], [52252095, 52252241], [52252835, 52252930], [52254585, 52254690], [52257945, 52258701], [52263884, 52263942]]
ENST00000315141	[[52230223, 52230457], [52239488, 52239586], [52242004, 52242191], [52244040, 52244176], [52245325, 52245460], [52252095, 52252241], [52252835, 52252930], [52254585, 52254690], [52257945, 52258701], [52263884, 52263973]]	[[52230352, 52230457], [52239488, 52239586], [52242004, 52242191], [52244040, 52244176], [52245325, 52245460], [52252095, 52252241], [52252835, 52252930], [52254585, 52254690], [52257945, 52258701], [52263884, 52263942]]
ENST00000558949	[[52245411, 52245460], [52246677, 52247258]]	None
NM_001323903	[[52230221, 52230457], [52233697, 52233795], [52239488, 52239586], [52242004, 52242191], [52244040, 52244176], [52245325, 52245460], [52246677, 52246772], [52250938, 52251023], [52252095, 52252241], [52252835, 52252930], [52254585, 52254690], [52257945, 52258701], [52263884, 52263998]]	[[52230384, 52230457], [52233697, 52233795], [52239488, 52239586], [52242004, 52242191], [52244040, 52244176], [52245325, 52245460], [52246677, 52246772], [52250938, 52251023], [52252095, 52252241], [52252835, 52252930], [52254585, 52254690], [52257945, 52258701], [52263884, 52263942]]
NM_138792	[[52230221, 52230457], [52239488, 52239586], [52242004, 52242191], [52244040, 52244176], [52245325, 52245460], [52246677, 52246772], [52250938, 52251023], [52252095, 52252241], [52252835, 52252930], [52254585, 52254690], [52257945, 52258701], [52263884, 52263998]]	[[52230352, 52230457], [52239488, 52239586], [52242004, 52242191], [52244040, 52244176], [52245325, 52245460], [52246677, 52246772], [52250938, 52251023], [52252095, 52252241], [52252835, 52252930], [52254585, 52254690], [52257945, 52258701], [52263884, 52263942]]
NM_001323904	[[52230221, 52230453], [52239488, 52239586], [52242004, 52242191], [52244040, 52244176], [52245325, 52245460], [52246677, 52246772], [52250938, 52251023], [52252095, 52252241], [52252835, 52252930], [52254585, 52254690], [52257945, 52258701], [52263884, 52263998]]	[[52230384, 52230453], [52239488, 52239586], [52242004, 52242191], [52244040, 52244176], [52245325, 52245460], [52246677, 52246772], [52250938, 52251023], [52252095, 52252241], [52252835, 52252930], [52254585, 52254690], [52257945, 52258701], [52263884, 52263942]]
NM_001286430	[[52230221, 52230457], [52239488, 52239586], [52242004, 52242191], [52244040, 52244176], [52245325, 52245460], [52252095, 52252241], [52252835, 52252930], [52254585, 52254690], [52257945, 52258701], [52263884, 52263998]]	[[52230352, 52230457], [52239488, 52239586], [52242004, 52242191], [52244040, 52244176], [52245325, 52245460], [52252095, 52252241], [52252835, 52252930], [52254585, 52254690], [52257945, 52258701], [52263884, 52263942]]

Promoter

Chrom	Start	End	Description
chr15	52263937	52263990	CAGE_peak_1_at_LEO1_5end
chr15	52264084	52264096	CAGE_peak_2_at_LEO1_5end
chr15	52264112	52264119	CAGE_peak_3_at_LEO1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr15	GH15I051994	51994259	51996300	0.83	[{'connected_gene': 'MAPK6', 'score': 12.79}, {'connected_gene': 'LEO1', 'score': 11.86}, {'connected_gene': 'GNB5', 'score': 9.94}, {'connected_gene': 'ENSG00000259178', 'score': 4.87}, {'connected_gene': 'GC15P052002', 'score': 0.44}]
chr15	GH15I051993	51993124	51993273	0.71	[{'connected_gene': 'MAPK6', 'score': 12.79}, {'connected_gene': 'LEO1', 'score': 11.86}, {'connected_gene': 'GC15P052002', 'score': 0.44}]
chr15	GH15I051980	51980888	51983269	1.4	[{'connected_gene': 'LYSMD2', 'score': 19.04}, {'connected_gene': 'MAPK6', 'score': 12.65}, {'connected_gene': 'TMOD3', 'score': 11.39}, {'connected_gene': 'GNB5', 'score': 10.26}, {'connected_gene': 'ENSG00000259178', 'score': 6.82}, {'connected_gene': 'LEO1', 'score': 0.39}, {'connected_gene': 'GC15P052002', 'score': 0.34}]
chr15	GH15I051935	51935592	51936428	0.88	[{'connected_gene': 'LYSMD2', 'score': 20.86}, {'connected_gene': 'LEO1', 'score': 12.26}, {'connected_gene': 'TMOD3', 'score': 10.39}, {'connected_gene': 'GNB5', 'score': 9.65}, {'connected_gene': 'DMXL2', 'score': 4.31}, {'connected_gene': 'GC15P051928', 'score': 0.44}, {'connected_gene': 'LOC100422556', 'score': 0.44}, {'connected_gene': 'MAPK6', 'score': 0.37}]
chr15	GH15I051969	51969824	51972812	2.07	[{'connected_gene': 'LEO1', 'score': 550.77}, {'connected_gene': 'ENSG00000259935', 'score': 21.62}, {'connected_gene': 'LYSMD2', 'score': 20.31}, {'connected_gene': 'ENSG00000260618', 'score': 10.29}, {'connected_gene': 'ENSG00000259712', 'score': 9.77}, {'connected_gene': 'MAPK6', 'score': 0.37}]
chr15	GH15I051972	51972825	51973577	0.52	[{'connected_gene': 'LEO1', 'score': 550.77}, {'connected_gene': 'LYSMD2', 'score': 18.52}, {'connected_gene': 'MAPK6', 'score': 12.68}, {'connected_gene': 'GC15P052002', 'score': 0.31}]
chr15	GH15I051943	51943773	51943809	0.39	[{'connected_gene': 'LEO1', 'score': 11.52}, {'connected_gene': 'GNB5', 'score': 10.5}, {'connected_gene': 'MAPK6', 'score': 1.51}, {'connected_gene': 'DMXL2', 'score': 1.37}, {'connected_gene': 'LOC100422556', 'score': 0.39}, {'connected_gene': 'TMOD3', 'score': 0.14}]
chr15	GH15I052139	52139306	52140613	1.09	[{'connected_gene': 'LEO1', 'score': 11.58}, {'connected_gene': 'GNB5', 'score': 11.49}, {'connected_gene': 'ENSG00000259709', 'score': 9.58}, {'connected_gene': 'CERNA1', 'score': 4.62}, {'connected_gene': 'GC15P052163', 'score': 0.34}, {'connected_gene': 'GC15P052002', 'score': 0.12}]
chr15	GH15I052164	52164744	52164893	0.43	[{'connected_gene': 'GNB5', 'score': 12.2}, {'connected_gene': 'LEO1', 'score': 11.11}, {'connected_gene': 'MAPK6', 'score': 10.37}, {'connected_gene': 'CERNA1', 'score': 4.85}, {'connected_gene': 'ENSG00000206995', 'score': 0.77}]
chr15	GH15I052005	52005578	52009856	1.61	[{'connected_gene': 'GNB5', 'score': 14.94}, {'connected_gene': 'LEO1', 'score': 11.34}, {'connected_gene': 'MIR4713HG', 'score': 3.97}, {'connected_gene': 'GC15P052002', 'score': 0.77}, {'connected_gene': 'ENSG00000274528', 'score': 0.39}, {'connected_gene': 'MAPK6', 'score': 0.22}]
chr15	GH15I052066	52066938	52070331	1.01	[{'connected_gene': 'BCL2L10', 'score': 12.08}, {'connected_gene': 'MAPK6', 'score': 11.81}, {'connected_gene': 'LEO1', 'score': 11.18}, {'connected_gene': 'GNB5', 'score': 10.66}, {'connected_gene': 'LYSMD2', 'score': 6.65}, {'connected_gene': 'ENSG00000259178', 'score': 5.13}, {'connected_gene': 'ENSG00000259398', 'score': 0.29}, {'connected_gene': 'ENSG00000259712', 'score': 0.29}, {'connected_gene': 'GC15P052002', 'score': 0.2}]
chr15	GH15I052178	52178438	52181227	1.93	[{'connected_gene': 'CERNA1', 'score': 569.22}, {'connected_gene': 'GNB5', 'score': 560.06}, {'connected_gene': 'LEO1', 'score': 10.38}, {'connected_gene': 'ENSG00000259709', 'score': 5.55}, {'connected_gene': 'TMOD3', 'score': 4.3}, {'connected_gene': 'ENSG00000206995', 'score': 0.37}]
chr15	GH15I052092	52092558	52096798	1.48	[{'connected_gene': 'GC15P052096', 'score': 550.77}, {'connected_gene': 'RPS13P8', 'score': 550.77}, {'connected_gene': 'MAPK6', 'score': 16.46}, {'connected_gene': 'LEO1', 'score': 10.57}, {'connected_gene': 'GNB5', 'score': 10.44}, {'connected_gene': 'ENSG00000259178', 'score': 10.32}, {'connected_gene': 'LYSMD2', 'score': 7.4}, {'connected_gene': 'ENSG00000259709', 'score': 7.16}, {'connected_gene': 'MYO5C', 'score': 5.28}, {'connected_gene': 'DMXL2', 'score': 4.73}, {'connected_gene': 'ENSG00000259241', 'score': 3.97}, {'connected_gene': 'ENSG00000259712', 'score': 0.44}, {'connected_gene': 'GC15P052002', 'score': 0.16}]
chr15	GH15I052010	52010544	52012404	1.23	[{'connected_gene': 'ENSG00000259935', 'score': 13.43}, {'connected_gene': 'ENSG00000260618', 'score': 12.58}, {'connected_gene': 'FAM214A', 'score': 11.76}, {'connected_gene': 'ENSG00000259712', 'score': 11.3}, {'connected_gene': 'LEO1', 'score': 10.96}, {'connected_gene': 'GNB5', 'score': 10.17}, {'connected_gene': 'MYO5C', 'score': 10.03}, {'connected_gene': 'ENSG00000259438', 'score': 0.44}, {'connected_gene': 'GC15P052002', 'score': 0.44}, {'connected_gene': 'ENSG00000274528', 'score': 0.44}, {'connected_gene': 'MAPK6', 'score': 0.22}]
chr15	GH15I052163	52163684	52163833	0.46	[{'connected_gene': 'GC15P052163', 'score': 550.77}, {'connected_gene': 'ENSG00000206995', 'score': 550.77}, {'connected_gene': 'GNB5', 'score': 12.2}, {'connected_gene': 'LEO1', 'score': 11.11}, {'connected_gene': 'MAPK6', 'score': 10.37}, {'connected_gene': 'CERNA1', 'score': 0.37}]
chr15	GH15I052161	52161644	52163469	0.38	[{'connected_gene': 'GC15P052163', 'score': 550.77}, {'connected_gene': 'ENSG00000206995', 'score': 550.77}, {'connected_gene': 'GNB5', 'score': 18.78}, {'connected_gene': 'CERNA1', 'score': 11.73}, {'connected_gene': 'LEO1', 'score': 11.11}, {'connected_gene': 'MAPK6', 'score': 10.37}, {'connected_gene': 'ENSG00000259709', 'score': 0.28}]