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
ENST00000261167	[[14939409, 14940432], [14941884, 14942067], [14943389, 14943683], [14944102, 14944204], [14946664, 14946856], [14947470, 14947670], [14947904, 14948038], [14949740, 14949937], [14952568, 14952662], [14953685, 14953717], [14954253, 14954362], [14956285, 14956474]]	[[14939998, 14940432], [14941884, 14942067], [14943389, 14943683], [14944102, 14944204], [14946664, 14946856], [14947470, 14947670], [14947904, 14948038], [14949740, 14949937], [14952568, 14952662], [14953685, 14953717], [14954253, 14954317]]
ENST00000535638	[[14943622, 14943683], [14944102, 14944204], [14946664, 14946856], [14949740, 14949937], [14952568, 14952662], [14953685, 14953717], [14954253, 14954362]]	[[14944198, 14944204], [14946664, 14946856], [14949740, 14949937], [14952568, 14952662], [14953685, 14953717], [14954253, 14954317]]
ENST00000544764	[[14952374, 14952662], [14953685, 14953717], [14954253, 14954362], [14956285, 14956420]]	None
ENST00000535328	[[14952599, 14952662], [14953685, 14953717], [14954253, 14954362], [14954811, 14954966], [14956285, 14956420]]	[[14952599, 14952662], [14953685, 14953717], [14954253, 14954317]]
ENST00000543316	[[14953933, 14954362], [14956285, 14956410]]	None
NM_016312	[[14939411, 14940432], [14941884, 14942067], [14943389, 14943683], [14944102, 14944204], [14946664, 14946856], [14947470, 14947670], [14947904, 14948038], [14949740, 14949937], [14952568, 14952662], [14953685, 14953717], [14954253, 14954362], [14956285, 14956401]]	[[14939998, 14940432], [14941884, 14942067], [14943389, 14943683], [14944102, 14944204], [14946664, 14946856], [14947470, 14947670], [14947904, 14948038], [14949740, 14949937], [14952568, 14952662], [14953685, 14953717], [14954253, 14954317]]

Promoter

Chrom	Start	End	Description
chr12	14946712	14946728	CAGE_peak_2_at_WBP11_5end
chr12	14946970	14946974	CAGE_peak_3_at_WBP11_5end
chr12	14956396	14956444	CAGE_peak_1_at_WBP11_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr12	GH12I014566	14566730	14569351	1.92	[{'connected_gene': 'PLBD1', 'score': 556.91}, {'connected_gene': 'PLBD1-AS1', 'score': 556.44}, {'connected_gene': 'GUCY2C', 'score': 19.49}, {'connected_gene': 'ATF7IP', 'score': 12.36}, {'connected_gene': 'ENSG00000261324', 'score': 11.24}, {'connected_gene': 'ENSG00000214772', 'score': 10.71}, {'connected_gene': 'WBP11', 'score': 10.53}, {'connected_gene': 'HIST4H4', 'score': 9.92}]
chr12	GH12I014772	14772863	14776654	2.1	[{'connected_gene': 'H2AFJ', 'score': 558.56}, {'connected_gene': 'GC12P014775', 'score': 550.77}, {'connected_gene': 'PIR36886', 'score': 550.77}, {'connected_gene': 'WBP11', 'score': 22.7}, {'connected_gene': 'C12orf60', 'score': 19.51}, {'connected_gene': 'ENSG00000261324', 'score': 15.35}, {'connected_gene': 'HIST4H4', 'score': 15.12}, {'connected_gene': 'ATF7IP', 'score': 13.91}, {'connected_gene': 'ERP27', 'score': 4.53}]
chr12	GH12I014389	14389968	14398234	1.58	[{'connected_gene': 'ATF7IP', 'score': 16.39}, {'connected_gene': 'RPL30P11', 'score': 12.29}, {'connected_gene': 'RNU6-491P', 'score': 11.68}, {'connected_gene': 'ENSG00000261324', 'score': 4.43}, {'connected_gene': 'WBP11', 'score': 1.68}, {'connected_gene': 'GC12P014389', 'score': 0.77}, {'connected_gene': 'GC12M014383', 'score': 0.77}]
chr12	GH12I014780	14780601	14780800	0.31	[{'connected_gene': 'WBP11', 'score': 12.57}, {'connected_gene': 'ART4', 'score': 10.61}, {'connected_gene': 'ENSG00000256339', 'score': 10.03}, {'connected_gene': 'SMCO3', 'score': 10.0}, {'connected_gene': 'PDE6H', 'score': 8.93}, {'connected_gene': 'C12orf60', 'score': 0.77}, {'connected_gene': 'GC12P014775', 'score': 0.44}, {'connected_gene': 'PIR36886', 'score': 0.44}]
chr12	GH12I014801	14801752	14804631	2.02	[{'connected_gene': 'WBP11', 'score': 593.47}, {'connected_gene': 'C12orf60', 'score': 575.18}, {'connected_gene': 'ATF7IP', 'score': 45.86}, {'connected_gene': 'ENSG00000261324', 'score': 11.43}, {'connected_gene': 'HIST4H4', 'score': 10.13}, {'connected_gene': 'H2AFJ', 'score': 5.43}, {'connected_gene': 'SMCO3', 'score': 0.39}, {'connected_gene': 'PIR58925', 'score': 0.37}]
chr12	GH12I014883	14883386	14886556	1.92	[{'connected_gene': 'MGP', 'score': 550.77}, {'connected_gene': 'ENSG00000256339', 'score': 36.62}, {'connected_gene': 'ERP27', 'score': 29.78}, {'connected_gene': 'PDE6H', 'score': 15.64}, {'connected_gene': 'ART4', 'score': 11.51}, {'connected_gene': 'SMCO3', 'score': 10.51}, {'connected_gene': 'ARHGDIB', 'score': 10.39}, {'connected_gene': 'HIST4H4', 'score': 10.36}, {'connected_gene': 'H2AFJ', 'score': 10.36}, {'connected_gene': 'WBP11', 'score': 10.14}, {'connected_gene': 'C12orf60', 'score': 10.11}, {'connected_gene': 'GC12M014862', 'score': 0.39}]
chr12	GH12I014980	14980773	14984199	0.99	[{'connected_gene': 'ART4', 'score': 11.22}, {'connected_gene': 'ENSG00000256339', 'score': 10.74}, {'connected_gene': 'ERP27', 'score': 10.2}, {'connected_gene': 'WBP11', 'score': 10.15}, {'connected_gene': 'C12orf60', 'score': 10.14}, {'connected_gene': 'HIST4H4', 'score': 9.94}, {'connected_gene': 'H2AFJ', 'score': 9.86}, {'connected_gene': 'SMCO3', 'score': 9.51}, {'connected_gene': 'ARHGDIB', 'score': 7.16}, {'connected_gene': 'PDE6H', 'score': 5.62}, {'connected_gene': 'GC12P014973', 'score': 0.44}, {'connected_gene': 'GC12P014974', 'score': 0.44}, {'connected_gene': 'LOC105369670', 'score': 0.44}]
chr12	GH12I015710	15710811	15714080	1.33	[{'connected_gene': 'SUPT16HP1', 'score': 65.94}, {'connected_gene': 'ENSG00000261324', 'score': 64.67}, {'connected_gene': 'HIST4H4', 'score': 59.34}, {'connected_gene': 'WBP11', 'score': 18.14}, {'connected_gene': 'RNU6-251P', 'score': 12.34}, {'connected_gene': 'EPS8', 'score': 12.18}, {'connected_gene': 'ENSG00000256564', 'score': 4.17}, {'connected_gene': 'GC12M015672', 'score': 0.26}, {'connected_gene': 'ENSG00000255565', 'score': 0.2}]
chr12	GH12I014945	14945763	14964864	2.65	[{'connected_gene': 'ARHGDIB', 'score': 572.66}, {'connected_gene': 'ERP27', 'score': 16.91}, {'connected_gene': 'PDE6H', 'score': 16.09}, {'connected_gene': 'WBP11', 'score': 12.28}, {'connected_gene': 'ART4', 'score': 11.35}, {'connected_gene': 'HIST4H4', 'score': 10.69}, {'connected_gene': 'H2AFJ', 'score': 10.69}, {'connected_gene': 'SMCO3', 'score': 10.41}, {'connected_gene': 'C12orf60', 'score': 10.32}, {'connected_gene': 'ENSG00000256339', 'score': 10.26}, {'connected_gene': 'MGP', 'score': 10.15}, {'connected_gene': 'PLBD1', 'score': 2.18}, {'connected_gene': 'LOC105369670', 'score': 0.29}]
chr12	GH12I014751	14751276	14752779	0.31	[{'connected_gene': 'GUCY2C', 'score': 22.85}, {'connected_gene': 'H2AFJ', 'score': 16.27}, {'connected_gene': 'SMCO3', 'score': 10.95}, {'connected_gene': 'C12orf60', 'score': 10.9}, {'connected_gene': 'WBP11', 'score': 10.84}, {'connected_gene': 'GC12M014736', 'score': 0.39}, {'connected_gene': 'LOC105369669', 'score': 0.37}, {'connected_gene': 'ENSG00000261324', 'score': 0.37}, {'connected_gene': 'ENSG00000214772', 'score': 0.17}]
chr12	GH12I014794	14794745	14795597	0.54	[{'connected_gene': 'C12orf60', 'score': 20.5}, {'connected_gene': 'WBP11', 'score': 0.44}, {'connected_gene': 'PIR58925', 'score': 0.44}]
chr12	GH12I014755	14755655	14757784	0.92	[{'connected_gene': 'C12orf60', 'score': 28.76}, {'connected_gene': 'GUCY2C', 'score': 11.02}, {'connected_gene': 'SMCO3', 'score': 10.96}, {'connected_gene': 'WBP11', 'score': 10.4}, {'connected_gene': 'ENSG00000261324', 'score': 0.39}, {'connected_gene': 'LOC105369669', 'score': 0.39}, {'connected_gene': 'GC12M014736', 'score': 0.37}, {'connected_gene': 'ENSG00000214772', 'score': 0.16}]
chr12	GH12I014976	14976696	14976969	0.59	[{'connected_gene': 'ERP27', 'score': 9.91}, {'connected_gene': 'ENSG00000256339', 'score': 9.77}, {'connected_gene': 'WBP11', 'score': 9.69}, {'connected_gene': 'C12orf60', 'score': 9.68}, {'connected_gene': 'MGP', 'score': 9.65}, {'connected_gene': 'SMCO3', 'score': 9.48}, {'connected_gene': 'PDE6H', 'score': 5.89}, {'connected_gene': 'PLBD1', 'score': 2.59}, {'connected_gene': 'GC12P014973', 'score': 0.77}, {'connected_gene': 'GC12P014974', 'score': 0.77}, {'connected_gene': 'LOC105369670', 'score': 0.39}]
chr12	GH12I014255	14255242	14262413	2.02	[{'connected_gene': 'ENSG00000261324', 'score': 67.92}, {'connected_gene': 'ATF7IP', 'score': 46.65}, {'connected_gene': 'HIST4H4', 'score': 43.46}, {'connected_gene': 'WBP11', 'score': 21.42}, {'connected_gene': 'RPL30P11', 'score': 12.89}, {'connected_gene': 'H2AFJ', 'score': 11.0}, {'connected_gene': 'PLBD1', 'score': 1.7}, {'connected_gene': 'GC12P014255', 'score': 0.77}, {'connected_gene': 'GNAI2P1', 'score': 0.77}, {'connected_gene': 'GC12M014297', 'score': 0.28}, {'connected_gene': 'PIR56629', 'score': 0.28}]
chr12	GH12I014427	14427405	14433109	0.62	[{'connected_gene': 'ENSG00000261324', 'score': 17.56}, {'connected_gene': 'HIST4H4', 'score': 14.4}, {'connected_gene': 'RPL30P11', 'score': 12.02}, {'connected_gene': 'ATF7IP', 'score': 12.02}, {'connected_gene': 'RNU6-491P', 'score': 11.84}, {'connected_gene': 'WBP11', 'score': 10.07}, {'connected_gene': 'ERP27', 'score': 4.98}, {'connected_gene': 'GC12M014410', 'score': 0.37}, {'connected_gene': 'PIR32265', 'score': 0.22}]