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
ENST00000316048	[[14957583, 14959630], [14967059, 14967116]]	[[14958936, 14959614]]
NM_001013698	[[14957583, 14959630], [14967059, 14967116]]	[[14958936, 14959614]]

Promoter

Chrom	Start	End	Description
chr12	14967095	14967123	CAGE_peak_1_at_C12orf69_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
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	GH12I014814	14814172	14814231	0.5	[{'connected_gene': 'SMCO3', 'score': 550.77}, {'connected_gene': 'GC12P014829', 'score': 0.37}, {'connected_gene': 'C12orf60', 'score': 0.31}]
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	GH12I014999	14999507	14999684	0.38	[{'connected_gene': 'ART4', 'score': 11.73}, {'connected_gene': 'PDE6H', 'score': 11.34}, {'connected_gene': 'ENSG00000256339', 'score': 11.12}, {'connected_gene': 'ARHGDIB', 'score': 11.11}, {'connected_gene': 'ERP27', 'score': 10.53}, {'connected_gene': 'SMCO3', 'score': 10.49}, {'connected_gene': 'C12orf60', 'score': 9.95}, {'connected_gene': 'MGP', 'score': 9.69}, {'connected_gene': 'LINC01489', 'score': 0.77}, {'connected_gene': 'LOC105369670', 'score': 0.44}]
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	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	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	GH12I014896	14896047	14897378	0.91	[{'connected_gene': 'ERP27', 'score': 43.47}, {'connected_gene': 'ART4', 'score': 11.36}, {'connected_gene': 'SMCO3', 'score': 10.16}, {'connected_gene': 'ENSG00000256339', 'score': 10.16}, {'connected_gene': 'PDE6H', 'score': 9.63}, {'connected_gene': 'GC12M014889', 'score': 0.44}, {'connected_gene': 'GC12M014903', 'score': 0.39}, {'connected_gene': 'C12orf60', 'score': 0.14}]
chr12	GH12I014892	14892472	14894388	0.58	[{'connected_gene': 'ERP27', 'score': 39.58}, {'connected_gene': 'ART4', 'score': 12.24}, {'connected_gene': 'ENSG00000256339', 'score': 9.93}, {'connected_gene': 'SMCO3', 'score': 9.9}, {'connected_gene': 'GC12M014889', 'score': 0.77}, {'connected_gene': 'GC12M014903', 'score': 0.39}, {'connected_gene': 'C12orf60', 'score': 0.14}]
chr12	GH12I015001	15001687	15002394	0.31	[{'connected_gene': 'LINC01489', 'score': 550.77}, {'connected_gene': 'ART4', 'score': 12.04}, {'connected_gene': 'PDE6H', 'score': 10.92}, {'connected_gene': 'ENSG00000256339', 'score': 10.71}, {'connected_gene': 'ARHGDIB', 'score': 10.63}, {'connected_gene': 'SMCO3', 'score': 10.28}, {'connected_gene': 'H2AFJ', 'score': 10.16}, {'connected_gene': 'HIST4H4', 'score': 10.16}, {'connected_gene': 'MGP', 'score': 10.11}, {'connected_gene': 'C12orf60', 'score': 10.1}, {'connected_gene': 'GC12M015095', 'score': 0.16}]
chr12	GH12I015000	15000087	15000236	0.31	[{'connected_gene': 'LINC01489', 'score': 550.77}, {'connected_gene': 'ART4', 'score': 11.73}, {'connected_gene': 'PDE6H', 'score': 11.34}, {'connected_gene': 'ENSG00000256339', 'score': 11.12}, {'connected_gene': 'ARHGDIB', 'score': 11.11}, {'connected_gene': 'ERP27', 'score': 10.53}, {'connected_gene': 'SMCO3', 'score': 10.49}, {'connected_gene': 'C12orf60', 'score': 9.95}, {'connected_gene': 'MGP', 'score': 9.69}, {'connected_gene': 'LOC105369670', 'score': 0.39}]
chr12	GH12I014840	14840628	14844210	1.89	[{'connected_gene': 'ENSG00000256339', 'score': 575.24}, {'connected_gene': 'ART4', 'score': 553.73}, {'connected_gene': 'GC12M014843', 'score': 550.77}, {'connected_gene': 'GC12M014844', 'score': 550.77}, {'connected_gene': 'ERP27', 'score': 30.38}, {'connected_gene': 'H2AFJ', 'score': 4.07}, {'connected_gene': 'SMCO3', 'score': 2.03}, {'connected_gene': 'C12orf60', 'score': 0.22}]
chr12	GH12I014741	14741223	14742093	0.76	[{'connected_gene': 'GC12M014736', 'score': 550.77}, {'connected_gene': 'HIST4H4', 'score': 11.54}, {'connected_gene': 'C12orf60', 'score': 10.55}, {'connected_gene': 'SMCO3', 'score': 10.48}, {'connected_gene': 'H2AFJ', 'score': 5.06}, {'connected_gene': 'ENSG00000261324', 'score': 0.31}, {'connected_gene': 'LOC105369669', 'score': 0.31}, {'connected_gene': 'ENSG00000214772', 'score': 0.18}]