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
ENST00000445856	[[225997793, 225997871], [226016425, 226016613], [226019479, 226019660], [226026354, 226026474]]	[[226016430, 226016613], [226019479, 226019660], [226026354, 226026474]]
ENST00000272167	[[225997796, 225997871], [226016425, 226016613], [226019479, 226019660], [226026354, 226026582], [226026917, 226027047], [226027529, 226027738], [226030066, 226030175], [226032198, 226032324], [226032846, 226033260]]	[[226016430, 226016613], [226019479, 226019660], [226026354, 226026582], [226026917, 226027047], [226027529, 226027738], [226030066, 226030175], [226032198, 226032324], [226032846, 226033048]]
ENST00000448202	[[225997835, 225998317], [226016425, 226016613], [226019479, 226019660], [226026354, 226026398]]	[[226016430, 226016613], [226019479, 226019660], [226026354, 226026398]]
ENST00000366837	[[226013054, 226013245], [226016425, 226016613], [226019479, 226019660], [226026354, 226026582], [226026917, 226027047], [226027529, 226027738], [226030066, 226030175], [226032198, 226032324], [226032846, 226033260]]	[[226016430, 226016613], [226019479, 226019660], [226026354, 226026582], [226026917, 226027047], [226027529, 226027738], [226030066, 226030175], [226032198, 226032324], [226032846, 226033048]]
ENST00000467015	[[226016543, 226016613], [226019479, 226019864]]	None
NM_001136018	[[225997775, 225997871], [226016425, 226016613], [226019479, 226019660], [226026354, 226026582], [226026917, 226027047], [226027529, 226027738], [226030066, 226030175], [226032198, 226032324], [226032846, 226033264]]	[[226016430, 226016613], [226019479, 226019660], [226026354, 226026582], [226026917, 226027047], [226027529, 226027738], [226030066, 226030175], [226032198, 226032324], [226032846, 226033048]]
NM_001291163	[[225997835, 225998317], [226016425, 226016613], [226019479, 226019660], [226026354, 226026582], [226026917, 226027047], [226027529, 226027738], [226030066, 226030175], [226032198, 226032324], [226032846, 226033264]]	[[226016430, 226016613], [226019479, 226019660], [226026354, 226026582], [226026917, 226027047], [226027529, 226027738], [226030066, 226030175], [226032198, 226032324], [226032846, 226033048]]
NM_000120	[[226013001, 226013245], [226016425, 226016613], [226019479, 226019660], [226026354, 226026582], [226026917, 226027047], [226027529, 226027738], [226030066, 226030175], [226032198, 226032324], [226032846, 226033264]]	[[226016430, 226016613], [226019479, 226019660], [226026354, 226026582], [226026917, 226027047], [226027529, 226027738], [226030066, 226030175], [226032198, 226032324], [226032846, 226033048]]

Promoter

Chrom	Start	End	Description
chr1	225997791	225997802	CAGE_peak_2_at_EPHX1_5end
chr1	225997818	225997834	CAGE_peak_1_at_EPHX1_5end
chr1	226013021	226013032	CAGE_peak_5_at_EPHX1_5end
chr1	226013047	226013067	CAGE_peak_3_at_EPHX1_5end
chr1	226013093	226013102	CAGE_peak_9_at_EPHX1_5end
chr1	226016555	226016570	CAGE_peak_4_at_EPHX1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I225821	225820387	225821032	0.66	[{'connected_gene': 'TMEM63A', 'score': 11.72}, {'connected_gene': 'ENSG00000255835', 'score': 11.17}, {'connected_gene': 'PYCR2', 'score': 11.17}, {'connected_gene': 'ENSG00000248322', 'score': 11.14}, {'connected_gene': 'LEFTY2', 'score': 11.14}, {'connected_gene': 'LEFTY1', 'score': 10.78}, {'connected_gene': 'ITPKB', 'score': 4.23}, {'connected_gene': 'GC01P225813', 'score': 0.44}, {'connected_gene': 'EPHX1', 'score': 0.39}, {'connected_gene': 'ENSG00000242861', 'score': 0.31}]
chr1	GH01I225815	225815801	225819000	1.33	[{'connected_gene': 'TMEM63A', 'score': 11.72}, {'connected_gene': 'ENSG00000255835', 'score': 11.68}, {'connected_gene': 'PYCR2', 'score': 11.68}, {'connected_gene': 'ENSG00000248322', 'score': 11.66}, {'connected_gene': 'LEFTY2', 'score': 11.66}, {'connected_gene': 'LEFTY1', 'score': 10.96}, {'connected_gene': 'EPHX1', 'score': 8.56}, {'connected_gene': 'ITPKB', 'score': 4.87}, {'connected_gene': 'GC01P225813', 'score': 0.44}, {'connected_gene': 'ENSG00000242861', 'score': 0.31}]
chr1	GH01I225820	225819635	225819683	0.43	[{'connected_gene': 'TMEM63A', 'score': 11.72}, {'connected_gene': 'ENSG00000255835', 'score': 11.17}, {'connected_gene': 'PYCR2', 'score': 11.17}, {'connected_gene': 'ENSG00000248322', 'score': 11.14}, {'connected_gene': 'LEFTY2', 'score': 11.14}, {'connected_gene': 'LEFTY1', 'score': 10.78}, {'connected_gene': 'EPHX1', 'score': 0.44}, {'connected_gene': 'GC01P225813', 'score': 0.44}, {'connected_gene': 'ENSG00000242861', 'score': 0.31}]
chr1	GH01I225819	225819801	225820000	0.51	[{'connected_gene': 'TMEM63A', 'score': 11.72}, {'connected_gene': 'ENSG00000255835', 'score': 11.17}, {'connected_gene': 'PYCR2', 'score': 11.17}, {'connected_gene': 'ENSG00000248322', 'score': 11.14}, {'connected_gene': 'LEFTY2', 'score': 11.14}, {'connected_gene': 'LEFTY1', 'score': 10.78}, {'connected_gene': 'EPHX1', 'score': 0.44}, {'connected_gene': 'GC01P225813', 'score': 0.44}, {'connected_gene': 'ENSG00000242861', 'score': 0.31}]
chr1	GH01I225837	225837864	225845225	0.64	[{'connected_gene': 'LEFTY2', 'score': 19.37}, {'connected_gene': 'PYCR2', 'score': 16.25}, {'connected_gene': 'ENSG00000255835', 'score': 10.83}, {'connected_gene': 'ENSG00000248322', 'score': 10.81}, {'connected_gene': 'LEFTY1', 'score': 9.31}, {'connected_gene': 'TMEM63A', 'score': 6.03}, {'connected_gene': 'ENAH', 'score': 4.55}, {'connected_gene': 'ENSG00000242861', 'score': 0.77}, {'connected_gene': 'EPHX1', 'score': 0.29}, {'connected_gene': 'GC01P225813', 'score': 0.29}]
chr1	GH01I225776	225776129	225780367	2.12	[{'connected_gene': 'SRP9', 'score': 550.77}, {'connected_gene': 'ACBD3', 'score': 51.82}, {'connected_gene': 'ACBD3-AS1', 'score': 48.48}, {'connected_gene': 'LINC01703', 'score': 11.56}, {'connected_gene': 'LOC105373110', 'score': 10.74}, {'connected_gene': 'H3F3A', 'score': 10.69}, {'connected_gene': 'LEFTY1', 'score': 10.62}, {'connected_gene': 'LEFTY3', 'score': 7.44}, {'connected_gene': 'EPHX1', 'score': 5.68}]
chr1	GH01I225831	225831445	225832022	0.31	[{'connected_gene': 'ENAH', 'score': 4.19}, {'connected_gene': 'ENSG00000242861', 'score': 0.39}, {'connected_gene': 'EPHX1', 'score': 0.34}, {'connected_gene': 'GC01P225813', 'score': 0.34}]
chr1	GH01I225828	225828567	225830146	0.43	[{'connected_gene': 'LEFTY3', 'score': 6.46}, {'connected_gene': 'EPHX1', 'score': 5.84}, {'connected_gene': 'GC01P225813', 'score': 0.37}, {'connected_gene': 'ENSG00000242861', 'score': 0.37}]
chr1	GH01I225822	225822719	225828026	2.11	[{'connected_gene': 'EPHX1', 'score': 590.62}, {'connected_gene': 'TMEM63A', 'score': 11.74}, {'connected_gene': 'LEFTY1', 'score': 11.43}, {'connected_gene': 'ENSG00000255835', 'score': 11.17}, {'connected_gene': 'PYCR2', 'score': 11.17}, {'connected_gene': 'ENSG00000248322', 'score': 11.15}, {'connected_gene': 'LEFTY2', 'score': 11.14}, {'connected_gene': 'LEFTY3', 'score': 6.53}, {'connected_gene': 'SRP9', 'score': 5.67}, {'connected_gene': 'GC01P225813', 'score': 0.39}, {'connected_gene': 'ENSG00000242861', 'score': 0.34}]
chr1	GH01I225809	225809499	225815179	2.46	[{'connected_gene': 'EPHX1', 'score': 555.68}, {'connected_gene': 'GC01P225813', 'score': 550.77}, {'connected_gene': 'ENSG00000255835', 'score': 11.67}, {'connected_gene': 'PYCR2', 'score': 11.67}, {'connected_gene': 'ENSG00000248322', 'score': 11.66}, {'connected_gene': 'LEFTY2', 'score': 11.66}, {'connected_gene': 'LEFTY3', 'score': 7.27}, {'connected_gene': 'SRP9', 'score': 5.45}, {'connected_gene': 'ITPKB', 'score': 4.1}, {'connected_gene': 'GC01P225812', 'score': 0.77}, {'connected_gene': 'GC01P225811', 'score': 0.77}, {'connected_gene': 'ENSG00000242861', 'score': 0.29}]
chr1	GH01I225835	225835860	225836386	0.63	[{'connected_gene': 'LEFTY1', 'score': 5.22}, {'connected_gene': 'ENSG00000242861', 'score': 0.39}, {'connected_gene': 'GC01P225813', 'score': 0.34}, {'connected_gene': 'EPHX1', 'score': 0.31}]
chr1	GH01I225845	225845420	225845569	0.63	[{'connected_gene': 'ENSG00000242861', 'score': 550.77}, {'connected_gene': 'ENSG00000255835', 'score': 10.84}, {'connected_gene': 'PYCR2', 'score': 10.84}, {'connected_gene': 'ENSG00000248322', 'score': 10.81}, {'connected_gene': 'LEFTY2', 'score': 10.81}, {'connected_gene': 'GC01P225813', 'score': 0.29}, {'connected_gene': 'TMEM63A', 'score': 0.28}, {'connected_gene': 'EPHX1', 'score': 0.28}]
chr1	GH01I225834	225834295	225835297	0.92	[{'connected_gene': 'ENSG00000242861', 'score': 0.39}, {'connected_gene': 'EPHX1', 'score': 0.34}, {'connected_gene': 'GC01P225813', 'score': 0.34}]