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
ENST00000496768	[[161087875, 161087968], [161088593, 161088671], [161088923, 161089178], [161089298, 161089402], [161089608, 161089742], [161089896, 161090022]]	None
ENST00000368009	[[161087890, 161087968], [161088575, 161088671], [161088923, 161089178], [161089298, 161089402], [161089608, 161089742], [161089896, 161090022], [161090288, 161090857]]	[[161087966, 161087968], [161088575, 161088671], [161088923, 161089178], [161089298, 161089402], [161089608, 161089742], [161089896, 161090022], [161090288, 161090555]]
ENST00000479266	[[161087894, 161087968], [161088923, 161089178], [161089298, 161089402], [161089608, 161089742]]	None
ENST00000477684	[[161087901, 161087968], [161088923, 161089178], [161089298, 161089402], [161089614, 161089687]]	None
ENST00000486962	[[161087903, 161087999], [161088575, 161088671], [161088923, 161089178], [161089298, 161089401]]	None
ENST00000368007	[[161087906, 161088341], [161088923, 161089178], [161089298, 161089402], [161089608, 161089742], [161089896, 161090022], [161090288, 161090983]]	[[161088288, 161088341], [161088923, 161089178], [161089298, 161089402], [161089608, 161089742], [161089896, 161090022], [161090288, 161090555]]
ENST00000492411	[[161087907, 161088015], [161088575, 161088671], [161088923, 161089178], [161089298, 161089402], [161089608, 161089742], [161089896, 161090022]]	None
ENST00000392190	[[161087907, 161088015], [161088575, 161088671], [161088923, 161089178], [161089298, 161089402], [161089608, 161089742], [161089896, 161090022], [161090288, 161090983]]	[[161088933, 161089178], [161089298, 161089402], [161089608, 161089742], [161089896, 161090022], [161090288, 161090555]]
ENST00000368008	[[161087907, 161087968], [161088575, 161088671], [161088923, 161089178], [161089298, 161089402], [161089608, 161089742], [161089896, 161090022], [161093930, 161095235]]	[[161087966, 161087968], [161088575, 161088671], [161088923, 161089178], [161089298, 161089402], [161089608, 161089742], [161089896, 161090022], [161093930, 161093945]]
ENST00000473918	[[161087914, 161088029], [161088923, 161089031]]	None
ENST00000478277	[[161087929, 161088029], [161088575, 161088671], [161088923, 161089097]]	None
ENST00000496861	[[161088009, 161088671], [161088923, 161089178], [161089298, 161089402], [161089608, 161089742], [161089896, 161090022], [161090288, 161090358]]	None
ENST00000491497	[[161088170, 161088671], [161088923, 161089402], [161089608, 161089706]]	None
ENST00000485594	[[161088575, 161088671], [161088923, 161089178], [161089282, 161089402], [161089608, 161089742], [161089896, 161090022], [161090288, 161090594]]	None
ENST00000461376	[[161088697, 161089178], [161089298, 161089402], [161089608, 161089733]]	None
ENST00000479728	[[161092096, 161092128], [161093930, 161094601]]	None
NM_005600	[[161087861, 161087968], [161088575, 161088671], [161088923, 161089178], [161089298, 161089402], [161089608, 161089742], [161089896, 161090022], [161090288, 161090984]]	[[161087966, 161087968], [161088575, 161088671], [161088923, 161089178], [161089298, 161089402], [161089608, 161089742], [161089896, 161090022], [161090288, 161090555]]
NM_001185092	[[161087861, 161087968], [161088575, 161088671], [161088923, 161089178], [161089298, 161089402], [161089608, 161089742], [161089896, 161090022], [161093930, 161095235]]	[[161087966, 161087968], [161088575, 161088671], [161088923, 161089178], [161089298, 161089402], [161089608, 161089742], [161089896, 161090022], [161093930, 161093945]]
NM_001185093	[[161087906, 161088341], [161088923, 161089178], [161089298, 161089402], [161089608, 161089742], [161089896, 161090022], [161090288, 161090984]]	[[161088288, 161088341], [161088923, 161089178], [161089298, 161089402], [161089608, 161089742], [161089896, 161090022], [161090288, 161090555]]
NM_001185094	[[161087907, 161088015], [161088575, 161088671], [161088923, 161089178], [161089298, 161089402], [161089608, 161089742], [161089896, 161090022], [161090288, 161090984]]	[[161088933, 161089178], [161089298, 161089402], [161089608, 161089742], [161089896, 161090022], [161090288, 161090555]]

Promoter

Chrom	Start	End	Description
chr1	161087873	161087925	CAGE_peak_1_at_NIT1_5end
chr1	161088329	161088338	CAGE_peak_9_at_NIT1_5end
chr1	161088360	161088369	CAGE_peak_7_at_NIT1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I161181	161181277	161188841	1.55	[{'connected_gene': 'B4GALT3', 'score': 12.21}, {'connected_gene': 'ADAMTS4', 'score': 8.6}, {'connected_gene': 'SLAMF7', 'score': 7.4}, {'connected_gene': 'PPOX', 'score': 6.88}, {'connected_gene': 'NIT1', 'score': 6.84}, {'connected_gene': 'FCER1G', 'score': 4.69}, {'connected_gene': 'CD48', 'score': 3.93}, {'connected_gene': 'ARHGAP30', 'score': 3.86}, {'connected_gene': 'CD244', 'score': 2.86}, {'connected_gene': 'FCGR3A', 'score': 2.69}, {'connected_gene': 'HSPA6', 'score': 1.82}, {'connected_gene': 'USF1', 'score': 1.7}, {'connected_gene': 'FCGR2A', 'score': 1.59}, {'connected_gene': 'LY9', 'score': 1.15}, {'connected_gene': 'NDUFS2', 'score': 0.39}]
chr1	GH01I161171	161171600	161174140	0.56	[{'connected_gene': 'B4GALT3', 'score': 9.97}, {'connected_gene': 'NIT1', 'score': 6.04}, {'connected_gene': 'NDUFS2', 'score': 5.58}, {'connected_gene': 'PPOX', 'score': 0.44}]
chr1	GH01I161175	161175290	161178489	2.28	[{'connected_gene': 'B4GALT3', 'score': 550.77}, {'connected_gene': 'USP21', 'score': 21.44}, {'connected_gene': 'LOC100287049', 'score': 19.51}, {'connected_gene': 'DUSP12', 'score': 14.86}, {'connected_gene': 'NIT1', 'score': 6.96}, {'connected_gene': 'PPOX', 'score': 0.39}]
chr1	GH01I161111	161111401	161111800	0.2	[{'connected_gene': 'PFDN2', 'score': 0.44}, {'connected_gene': 'NIT1', 'score': 0.44}, {'connected_gene': 'PIR38957', 'score': 0.39}, {'connected_gene': 'GC01P161100', 'score': 0.39}]
chr1	GH01I160989	160989782	160990987	1.42	[{'connected_gene': 'F11R', 'score': 19.94}, {'connected_gene': 'ENSG00000232879', 'score': 19.23}, {'connected_gene': 'DUSP12', 'score': 16.53}, {'connected_gene': 'USP21', 'score': 12.81}, {'connected_gene': 'TSTD1', 'score': 11.64}, {'connected_gene': 'SLAMF7', 'score': 10.27}, {'connected_gene': 'ENSG00000228863', 'score': 10.26}, {'connected_gene': 'SLAMF1', 'score': 9.91}, {'connected_gene': 'NIT1', 'score': 5.71}, {'connected_gene': 'PIR56289', 'score': 0.44}, {'connected_gene': 'GC01M160999', 'score': 0.44}, {'connected_gene': 'ITLN2', 'score': 0.29}]
chr1	GH01I161180	161180204	161180887	0.63	[{'connected_gene': 'NIT1', 'score': 6.96}, {'connected_gene': 'B4GALT3', 'score': 0.77}, {'connected_gene': 'NDUFS2', 'score': 0.37}]
chr1	GH01I161113	161113988	161122541	2.5	[{'connected_gene': 'NIT1', 'score': 560.03}, {'connected_gene': 'PFDN2', 'score': 550.77}, {'connected_gene': 'PIR38070', 'score': 550.77}, {'connected_gene': 'RPSAP18', 'score': 14.02}, {'connected_gene': 'DUSP12', 'score': 11.42}, {'connected_gene': 'B4GALT3', 'score': 10.1}, {'connected_gene': 'OLFML2B', 'score': 9.68}, {'connected_gene': 'F11R', 'score': 8.7}, {'connected_gene': 'HSPA6', 'score': 5.79}, {'connected_gene': 'PIR41247', 'score': 0.77}, {'connected_gene': 'PIR51486', 'score': 0.77}, {'connected_gene': 'DEDD', 'score': 0.39}]
chr1	GH01I161196	161196057	161204083	2.59	[{'connected_gene': 'NDUFS2', 'score': 561.69}, {'connected_gene': 'ADAMTS4', 'score': 560.36}, {'connected_gene': 'DUSP12', 'score': 27.96}, {'connected_gene': 'B4GALT3', 'score': 20.76}, {'connected_gene': 'USP21', 'score': 20.46}, {'connected_gene': 'PPOX', 'score': 19.03}, {'connected_gene': 'LOC100287049', 'score': 12.36}, {'connected_gene': 'DCAF8', 'score': 9.78}, {'connected_gene': 'NIT1', 'score': 7.21}, {'connected_gene': 'TOMM40L', 'score': 6.45}, {'connected_gene': 'PCP4L1', 'score': 2.51}, {'connected_gene': 'FCER1G', 'score': 0.37}]
chr1	GH01I161158	161158063	161162932	2.02	[{'connected_gene': 'USP21', 'score': 550.77}, {'connected_gene': 'ENSG00000224985', 'score': 550.77}, {'connected_gene': 'NIT1', 'score': 7.86}, {'connected_gene': 'TSTD1', 'score': 5.4}, {'connected_gene': 'PPOX', 'score': 0.44}, {'connected_gene': 'UFC1', 'score': 0.44}]
chr1	GH01I161096	161096224	161099132	2.12	[{'connected_gene': 'KLHDC9', 'score': 567.8}, {'connected_gene': 'USP21', 'score': 157.92}, {'connected_gene': 'DUSP12', 'score': 145.37}, {'connected_gene': 'PPOX', 'score': 88.24}, {'connected_gene': 'LOC100287049', 'score': 78.15}, {'connected_gene': 'DEDD', 'score': 68.19}, {'connected_gene': 'NCSTN', 'score': 52.13}, {'connected_gene': 'RPSAP18', 'score': 45.98}, {'connected_gene': 'LOC148430', 'score': 39.75}, {'connected_gene': 'DCAF8', 'score': 38.23}, {'connected_gene': 'B4GALT3', 'score': 36.38}, {'connected_gene': 'ATF6', 'score': 32.82}, {'connected_gene': 'COPA', 'score': 27.97}, {'connected_gene': 'LOC729867', 'score': 13.88}, {'connected_gene': 'LY9', 'score': 10.47}, {'connected_gene': 'SLAMF6', 'score': 10.28}, {'connected_gene': 'FCER1G', 'score': 7.13}, {'connected_gene': 'NDUFS2', 'score': 6.32}, {'connected_gene': 'NIT1', 'score': 5.5}, {'connected_gene': 'NECTIN4', 'score': 0.44}]