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
ENST00000306317	[[22004337, 22006490], [22009001, 22009166], [22009343, 22009513], [22011480, 22011552], [22011654, 22011726], [22012072, 22012144], [22012904, 22012976], [22013849, 22014345]]	[[22005672, 22006490], [22009001, 22009166], [22009343, 22009513], [22011480, 22011552], [22011654, 22011726], [22012072, 22012144], [22012904, 22012976], [22013849, 22014055]]
ENST00000424267	[[22004342, 22006490], [22009001, 22009166], [22009343, 22009513], [22011480, 22011552], [22012072, 22012144], [22012904, 22012976], [22013849, 22014264]]	[[22005672, 22006490], [22009001, 22009166], [22009343, 22009513], [22011480, 22011552], [22012072, 22012144], [22012904, 22012976], [22013849, 22014055]]
ENST00000520124	[[22004342, 22006490], [22009001, 22009166], [22009343, 22009513], [22011480, 22011552], [22011654, 22013022], [22013849, 22014346]]	None
ENST00000517694	[[22009050, 22009166], [22009343, 22009513], [22011480, 22011552], [22011654, 22011726], [22012072, 22012144], [22012904, 22012976], [22014508, 22014597]]	[[22009050, 22009166], [22009343, 22009513], [22011480, 22011552], [22011654, 22011726], [22012072, 22012144], [22012904, 22012976], [22014508, 22014597]]
ENST00000518365	[[22009404, 22009513], [22011480, 22011552], [22011654, 22011726], [22012072, 22012144], [22012904, 22013022], [22013849, 22014190]]	[[22011717, 22011726], [22012072, 22012144], [22012904, 22013022], [22013849, 22014055]]
NM_139278	[[22004342, 22006490], [22009001, 22009166], [22009343, 22009513], [22011480, 22011552], [22011654, 22011726], [22012072, 22012144], [22012904, 22012976], [22013849, 22014344]]	[[22005672, 22006490], [22009001, 22009166], [22009343, 22009513], [22011480, 22011552], [22011654, 22011726], [22012072, 22012144], [22012904, 22012976], [22013849, 22014055]]

Promoter

Chrom	Start	End	Description
chr8	22014185	22014194	CAGE_peak_3_at_LGI3_5end
chr8	22014255	22014266	CAGE_peak_2_at_LGI3_5end
chr8	22014298	22014326	CAGE_peak_1_at_LGI3_5end
chr8	22014339	22014342	CAGE_peak_4_at_LGI3_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr8	GH08I022202	22202827	22206671	0.96	[{'connected_gene': 'PHYHIP', 'score': 11.62}, {'connected_gene': 'POLR3D', 'score': 11.57}, {'connected_gene': 'MIR320A', 'score': 11.57}, {'connected_gene': 'BMP1', 'score': 11.52}, {'connected_gene': 'SFTPC', 'score': 11.51}, {'connected_gene': 'LGI3', 'score': 10.76}, {'connected_gene': 'NPM2', 'score': 10.09}, {'connected_gene': 'LOC105379319', 'score': 0.39}]
chr8	GH08I022146	22146242	22147501	0.69	[{'connected_gene': 'REEP4', 'score': 9.35}, {'connected_gene': 'SORBS3', 'score': 5.35}, {'connected_gene': 'LGI3', 'score': 0.39}, {'connected_gene': 'SFTPC', 'score': 0.39}]
chr8	GH08I022376	22376844	22377533	0.31	[{'connected_gene': 'POLR3D', 'score': 11.16}, {'connected_gene': 'MIR320A', 'score': 11.16}, {'connected_gene': 'PHYHIP', 'score': 11.15}, {'connected_gene': 'LOC100507071', 'score': 10.82}, {'connected_gene': 'PIWIL2', 'score': 10.82}, {'connected_gene': 'RNU6-336P', 'score': 10.73}, {'connected_gene': 'PPP3CC', 'score': 10.72}, {'connected_gene': 'LGI3', 'score': 10.26}, {'connected_gene': 'SFTPC', 'score': 10.26}, {'connected_gene': 'ENSG00000253616', 'score': 5.24}, {'connected_gene': 'GC08M022352', 'score': 0.77}, {'connected_gene': 'SLC39A14', 'score': 0.44}, {'connected_gene': 'RPL21P77', 'score': 0.39}]
chr8	GH08I022161	22161749	22161808	0.7	[{'connected_gene': 'SFTPC', 'score': 550.77}, {'connected_gene': 'LGI3', 'score': 0.77}, {'connected_gene': 'BMP1', 'score': 0.77}]
chr8	GH08I022377	22377715	22380933	0.49	[{'connected_gene': 'PIWIL2', 'score': 19.3}, {'connected_gene': 'POLR3D', 'score': 11.16}, {'connected_gene': 'MIR320A', 'score': 11.16}, {'connected_gene': 'PHYHIP', 'score': 11.15}, {'connected_gene': 'LOC100507071', 'score': 10.82}, {'connected_gene': 'RNU6-336P', 'score': 10.73}, {'connected_gene': 'PPP3CC', 'score': 10.72}, {'connected_gene': 'LGI3', 'score': 10.26}, {'connected_gene': 'SFTPC', 'score': 10.26}, {'connected_gene': 'GC08M022352', 'score': 0.44}, {'connected_gene': 'RPL21P77', 'score': 0.39}, {'connected_gene': 'SLC39A14', 'score': 0.39}]
chr8	GH08I022214	22214816	22217221	0.6	[{'connected_gene': 'PIWIL2', 'score': 18.61}, {'connected_gene': 'POLR3D', 'score': 13.11}, {'connected_gene': 'MIR320A', 'score': 13.11}, {'connected_gene': 'SFTPC', 'score': 11.28}, {'connected_gene': 'LOC100507071', 'score': 11.16}, {'connected_gene': 'LGI3', 'score': 10.71}, {'connected_gene': 'PHYHIP', 'score': 0.37}, {'connected_gene': 'LOC105379319', 'score': 0.34}]
chr8	GH08I022009	22009601	22011400	1.53	[{'connected_gene': 'GFRA2', 'score': 7.41}, {'connected_gene': 'NPM2', 'score': 3.65}, {'connected_gene': 'PHYHIP', 'score': 2.75}, {'connected_gene': 'DMTN', 'score': 2.54}, {'connected_gene': 'LGI3', 'score': 2.02}, {'connected_gene': 'PIR59461', 'score': 0.44}, {'connected_gene': 'GC08P022006', 'score': 0.44}]
chr8	GH08I022182	22182688	22182837	0.31	[{'connected_gene': 'LGI3', 'score': 11.6}, {'connected_gene': 'SFTPC', 'score': 11.6}, {'connected_gene': 'FGF17', 'score': 10.24}, {'connected_gene': 'NPM2', 'score': 10.24}, {'connected_gene': 'LOC100507071', 'score': 10.15}, {'connected_gene': 'PIWIL2', 'score': 10.15}, {'connected_gene': 'LOC101929237', 'score': 8.76}, {'connected_gene': 'LOC105379319', 'score': 0.44}, {'connected_gene': 'ENSG00000177725', 'score': 0.39}, {'connected_gene': 'BMP1', 'score': 0.37}]
chr8	GH08I022155	22155643	22157200	1.59	[{'connected_gene': 'LGI3', 'score': 550.77}, {'connected_gene': 'SFTPC', 'score': 550.77}, {'connected_gene': 'REEP4', 'score': 0.39}]
chr8	GH08I022177	22177355	22180171	1	[{'connected_gene': 'LGI3', 'score': 11.31}, {'connected_gene': 'SFTPC', 'score': 11.31}, {'connected_gene': 'XPO7', 'score': 10.94}, {'connected_gene': 'NPM2', 'score': 10.37}, {'connected_gene': 'FGF17', 'score': 10.25}, {'connected_gene': 'LOC100507071', 'score': 10.14}, {'connected_gene': 'PIWIL2', 'score': 10.14}, {'connected_gene': 'CCAR2', 'score': 10.1}, {'connected_gene': 'BMP1', 'score': 8.89}, {'connected_gene': 'LOC101929237', 'score': 8.76}, {'connected_gene': 'ENSG00000177725', 'score': 0.44}, {'connected_gene': 'LOC105379319', 'score': 0.39}]
chr8	GH08I022545	22545169	22555197	2.47	[{'connected_gene': 'SORBS3', 'score': 561.85}, {'connected_gene': 'GC08M022549', 'score': 550.77}, {'connected_gene': 'PPP3CC', 'score': 18.51}, {'connected_gene': 'RNU6-336P', 'score': 11.58}, {'connected_gene': 'PDLIM2', 'score': 11.45}, {'connected_gene': 'ENSG00000248235', 'score': 11.42}, {'connected_gene': 'CCAR2', 'score': 11.01}, {'connected_gene': 'ENSG00000253200', 'score': 10.18}, {'connected_gene': 'XPO7', 'score': 10.03}, {'connected_gene': 'SLC39A14', 'score': 6.09}, {'connected_gene': 'LGI3', 'score': 3.29}, {'connected_gene': 'DMTN', 'score': 2.33}, {'connected_gene': 'PHYHIP', 'score': 2.3}, {'connected_gene': 'EGR3', 'score': 1.44}, {'connected_gene': 'RHOBTB2', 'score': 1.31}, {'connected_gene': 'ENSG00000251034', 'score': 0.77}]
chr8	GH08I022373	22373434	22375435	0.52	[{'connected_gene': 'GC08M022352', 'score': 550.77}, {'connected_gene': 'PPP3CC', 'score': 18.96}, {'connected_gene': 'POLR3D', 'score': 11.17}, {'connected_gene': 'MIR320A', 'score': 11.17}, {'connected_gene': 'PHYHIP', 'score': 11.15}, {'connected_gene': 'LOC100507071', 'score': 10.82}, {'connected_gene': 'PIWIL2', 'score': 10.82}, {'connected_gene': 'RNU6-336P', 'score': 10.73}, {'connected_gene': 'LGI3', 'score': 10.27}, {'connected_gene': 'SFTPC', 'score': 10.27}, {'connected_gene': 'SLC39A14', 'score': 0.44}, {'connected_gene': 'RPL21P77', 'score': 0.37}]
chr8	GH08I021922	21922850	21922999	0.31	[{'connected_gene': 'GC08P021924', 'score': 550.77}, {'connected_gene': 'NPM2', 'score': 11.26}, {'connected_gene': 'FGF17', 'score': 11.24}, {'connected_gene': 'SFTPC', 'score': 9.93}, {'connected_gene': 'LGI3', 'score': 9.52}, {'connected_gene': 'XPO7', 'score': 0.77}]