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
ENST00000596132	[[7557861, 7557960], [7565691, 7566285], [7569006, 7569099]]	[[7565708, 7566285], [7569006, 7569099]]
ENST00000361664	[[7562444, 7562568], [7565691, 7566285], [7569006, 7569110], [7569196, 7569297], [7570209, 7570322], [7570402, 7570512], [7570849, 7571051], [7571941, 7572027], [7573091, 7573336]]	[[7565708, 7566285], [7569006, 7569110], [7569196, 7569297], [7570209, 7570322], [7570402, 7570512], [7570849, 7571051], [7571941, 7572027], [7573091, 7573316]]
ENST00000597207	[[7563812, 7563831], [7565691, 7566250]]	[[7565708, 7566250]]
ENST00000601176	[[7564527, 7564766], [7565691, 7566285]]	[[7565708, 7566285]]
ENST00000596524	[[7566158, 7566285], [7569006, 7569110], [7570284, 7570512], [7570849, 7570952]]	[[7566158, 7566285], [7569006, 7569110], [7570284, 7570326]]
ENST00000600112	[[7570405, 7570512], [7570849, 7571586]]	None
ENST00000601292	[[7571680, 7572027], [7573091, 7573333]]	None

Promoter

Chrom	Start	End	Description
chr19	7562431	7562448	CAGE_peak_10_at_C19orf45_5end
chr19	7562456	7562473	CAGE_peak_8_at_C19orf45_5end
chr19	7570269	7570273	CAGE_peak_13_at_C19orf45_5end
chr19	7570395	7570427	CAGE_peak_5_at_C19orf45_5end
chr19	7571606	7571617	CAGE_peak_7_at_C19orf45_5end
chr19	7571622	7571641	CAGE_peak_1_at_C19orf45_5end
chr19	7571797	7571812	CAGE_peak_3_at_C19orf45_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I007407	7407480	7407813	0.43	[{'connected_gene': 'PEX11G', 'score': 11.4}, {'connected_gene': 'TEX45', 'score': 11.4}, {'connected_gene': 'ENSG00000267852', 'score': 0.39}, {'connected_gene': 'ENSG00000268861', 'score': 0.34}, {'connected_gene': 'GC19P007434', 'score': 0.31}, {'connected_gene': 'ARHGEF18', 'score': 0.22}]
chr19	GH19I007498	7498755	7498893	0.33	[{'connected_gene': 'PEX11G', 'score': 550.77}, {'connected_gene': 'TEX45', 'score': 79.72}, {'connected_gene': 'PCP2', 'score': 48.15}, {'connected_gene': 'PNPLA6', 'score': 3.72}, {'connected_gene': 'EVI5L', 'score': 1.3}, {'connected_gene': 'ENSG00000267952', 'score': 0.44}]
chr19	GH19I007486	7486037	7486096	0.5	[{'connected_gene': 'PEX11G', 'score': 550.39}, {'connected_gene': 'TEX45', 'score': 0.44}, {'connected_gene': 'LOC100128573', 'score': 0.39}]
chr19	GH19I007487	7487973	7490246	1.97	[{'connected_gene': 'PEX11G', 'score': 574.19}, {'connected_gene': 'TEX45', 'score': 0.77}, {'connected_gene': 'LOC100128573', 'score': 0.37}]
chr19	GH19I007497	7497510	7497569	0.76	[{'connected_gene': 'PEX11G', 'score': 550.77}, {'connected_gene': 'TEX45', 'score': 550.77}, {'connected_gene': 'ENSG00000267952', 'score': 0.44}]
chr19	GH19I007499	7497440	7497499	0.76	[{'connected_gene': 'PEX11G', 'score': 550.77}, {'connected_gene': 'TEX45', 'score': 0.77}]
chr19	GH19I007482	7482367	7484552	1.22	[{'connected_gene': 'PEX11G', 'score': 49.33}, {'connected_gene': 'ARHGEF18', 'score': 7.59}, {'connected_gene': 'MCOLN1', 'score': 5.81}, {'connected_gene': 'EVI5L', 'score': 2.3}, {'connected_gene': 'STXBP2', 'score': 1.98}, {'connected_gene': 'PNPLA6', 'score': 1.94}, {'connected_gene': 'CD209', 'score': 1.53}, {'connected_gene': 'TEX45', 'score': 0.44}, {'connected_gene': 'LOC100128573', 'score': 0.39}]
chr19	GH19I007440	7440229	7441141	0.31	[{'connected_gene': 'PEX11G', 'score': 16.78}, {'connected_gene': 'ARHGEF18', 'score': 12.11}, {'connected_gene': 'TEX45', 'score': 11.78}, {'connected_gene': 'GC19M007438', 'score': 0.77}, {'connected_gene': 'GC19P007442', 'score': 0.77}, {'connected_gene': 'ENSG00000268861', 'score': 0.22}]
chr19	GH19I007479	7479100	7481804	0.89	[{'connected_gene': 'PEX11G', 'score': 40.14}, {'connected_gene': 'LOC100128573', 'score': 0.44}, {'connected_gene': 'TEX45', 'score': 0.39}]
chr19	GH19I007493	7493489	7495694	1.15	[{'connected_gene': 'TEX45', 'score': 550.77}, {'connected_gene': 'PEX11G', 'score': 32.31}, {'connected_gene': 'TRIP10', 'score': 14.5}, {'connected_gene': 'ENSG00000269680', 'score': 11.37}, {'connected_gene': 'HNRNPM', 'score': 10.28}]
chr19	GH19I007397	7397375	7400083	1.1	[{'connected_gene': 'TEX45', 'score': 11.22}, {'connected_gene': 'PEX11G', 'score': 11.21}, {'connected_gene': 'NDUFA7', 'score': 4.55}, {'connected_gene': 'ENSG00000267852', 'score': 0.77}, {'connected_gene': 'ENSG00000268861', 'score': 0.37}, {'connected_gene': 'GC19P007434', 'score': 0.28}, {'connected_gene': 'ARHGEF18', 'score': 0.25}]
chr19	GH19I007491	7491802	7493399	0.86	[{'connected_gene': 'TEX45', 'score': 550.77}, {'connected_gene': 'PEX11G', 'score': 41.01}, {'connected_gene': 'HNRNPM', 'score': 10.28}, {'connected_gene': 'LOC100128573', 'score': 0.37}]
chr19	GH19I007410	7410081	7410366	0.49	[{'connected_gene': 'TEX45', 'score': 11.41}, {'connected_gene': 'PEX11G', 'score': 11.4}, {'connected_gene': 'ENSG00000267852', 'score': 0.37}, {'connected_gene': 'GC19P007434', 'score': 0.34}, {'connected_gene': 'ENSG00000268861', 'score': 0.31}, {'connected_gene': 'ARHGEF18', 'score': 0.21}]
chr19	GH19I007188	7188226	7189839	1.06	[{'connected_gene': 'ARHGEF18', 'score': 10.84}, {'connected_gene': 'PEX11G', 'score': 10.21}, {'connected_gene': 'TEX45', 'score': 10.21}, {'connected_gene': 'CAMSAP3', 'score': 10.05}, {'connected_gene': 'RETN', 'score': 4.95}, {'connected_gene': 'GC19P007214', 'score': 0.31}, {'connected_gene': 'GC19P007151', 'score': 0.28}, {'connected_gene': 'INSR', 'score': 0.14}]
chr19	GH19I007187	7187970	7188119	0.66	[{'connected_gene': 'ARHGEF18', 'score': 10.83}, {'connected_gene': 'PEX11G', 'score': 10.21}, {'connected_gene': 'TEX45', 'score': 10.21}, {'connected_gene': 'CAMSAP3', 'score': 10.05}, {'connected_gene': 'GC19P007214', 'score': 0.31}, {'connected_gene': 'GC19P007151', 'score': 0.28}, {'connected_gene': 'INSR', 'score': 0.14}]
chr19	GH19I007185	7185857	7187056	0.74	[{'connected_gene': 'ARHGEF18', 'score': 10.83}, {'connected_gene': 'TEX45', 'score': 10.21}, {'connected_gene': 'PEX11G', 'score': 10.21}, {'connected_gene': 'CAMSAP3', 'score': 10.05}, {'connected_gene': 'GC19P007214', 'score': 0.31}, {'connected_gene': 'GC19P007151', 'score': 0.28}, {'connected_gene': 'INSR', 'score': 0.14}]
chr19	GH19I007424	7424400	7427654	0.69	[{'connected_gene': 'ARHGEF18', 'score': 18.15}, {'connected_gene': 'TEX45', 'score': 17.52}, {'connected_gene': 'PEX11G', 'score': 16.88}, {'connected_gene': 'CAMSAP3', 'score': 10.6}, {'connected_gene': 'GC19P007434', 'score': 0.44}, {'connected_gene': 'ENSG00000267852', 'score': 0.29}, {'connected_gene': 'ENSG00000268861', 'score': 0.26}]
chr19	GH19I007427	7427750	7429468	0.43	[{'connected_gene': 'ARHGEF18', 'score': 17.79}, {'connected_gene': 'TEX45', 'score': 12.38}, {'connected_gene': 'PEX11G', 'score': 12.37}, {'connected_gene': 'CAMSAP3', 'score': 10.6}, {'connected_gene': 'GC19P007434', 'score': 0.44}, {'connected_gene': 'ENSG00000267852', 'score': 0.29}, {'connected_gene': 'ENSG00000268861', 'score': 0.25}]
chr19	GH19I007439	7439709	7439768	0.5	[{'connected_gene': 'ARHGEF18', 'score': 562.11}, {'connected_gene': 'GC19M007438', 'score': 550.77}, {'connected_gene': 'TEX45', 'score': 11.78}, {'connected_gene': 'PEX11G', 'score': 11.77}, {'connected_gene': 'GC19P007442', 'score': 0.77}, {'connected_gene': 'ENSG00000268861', 'score': 0.22}]
chr19	GH19I007501	7501000	7501601	1.35	[{'connected_gene': 'ELAVL1', 'score': 11.81}, {'connected_gene': 'PEX11G', 'score': 5.9}, {'connected_gene': 'ENSG00000267952', 'score': 0.44}, {'connected_gene': 'TEX45', 'score': 0.44}]
chr19	GH19I007514	7514483	7517326	1.91	[{'connected_gene': 'ZNF358', 'score': 550.77}, {'connected_gene': 'HNRNPM', 'score': 26.85}, {'connected_gene': 'XAB2', 'score': 19.45}, {'connected_gene': 'ZNF557', 'score': 18.27}, {'connected_gene': 'ELAVL1', 'score': 16.05}, {'connected_gene': 'TRIP10', 'score': 14.5}, {'connected_gene': 'ZNF414', 'score': 13.16}, {'connected_gene': 'MAP2K7', 'score': 12.57}, {'connected_gene': 'ENSG00000269680', 'score': 11.37}, {'connected_gene': 'SH2D3A', 'score': 6.31}, {'connected_gene': 'PEX11G', 'score': 5.99}, {'connected_gene': 'LOC105372261', 'score': 0.44}, {'connected_gene': 'GC19M007510', 'score': 0.44}, {'connected_gene': 'MCOLN1', 'score': 0.44}, {'connected_gene': 'ENSG00000267952', 'score': 0.44}, {'connected_gene': 'TEX45', 'score': 0.34}]
chr19	GH19I007807	7807388	7808297	0.8	[{'connected_gene': 'TRAPPC5', 'score': 11.86}, {'connected_gene': 'MCEMP1', 'score': 11.85}, {'connected_gene': 'RPL21P129', 'score': 11.66}, {'connected_gene': 'CD209', 'score': 11.64}, {'connected_gene': 'CLEC4G', 'score': 11.62}, {'connected_gene': 'TEX45', 'score': 10.43}, {'connected_gene': 'PEX11G', 'score': 10.43}, {'connected_gene': 'EXOSC3P2', 'score': 0.44}, {'connected_gene': 'CLEC4GP1', 'score': 0.34}]
chr19	GH19I007512	7512375	7513305	0.63	[{'connected_gene': 'PNPLA6', 'score': 12.22}, {'connected_gene': 'ARHGEF18', 'score': 11.16}, {'connected_gene': 'PEX11G', 'score': 6.15}, {'connected_gene': 'ELAVL1', 'score': 5.25}, {'connected_gene': 'ZNF358', 'score': 0.77}, {'connected_gene': 'ENSG00000267952', 'score': 0.44}, {'connected_gene': 'GC19M007510', 'score': 0.39}, {'connected_gene': 'TEX45', 'score': 0.37}]
chr19	GH19I007507	7507800	7508401	0.94	[{'connected_gene': 'ENSG00000267952', 'score': 550.77}, {'connected_gene': 'PEX11G', 'score': 6.04}, {'connected_gene': 'ZNF358', 'score': 0.44}, {'connected_gene': 'TEX45', 'score': 0.37}]
chr19	GH19I007505	7505279	7507199	1.19	[{'connected_gene': 'ENSG00000267952', 'score': 550.77}, {'connected_gene': 'HNRNPM', 'score': 59.99}, {'connected_gene': 'ZNF557', 'score': 49.45}, {'connected_gene': 'ELAVL1', 'score': 43.57}, {'connected_gene': 'XAB2', 'score': 38.24}, {'connected_gene': 'MAP2K7', 'score': 11.09}, {'connected_gene': 'GPR108', 'score': 10.27}, {'connected_gene': 'PEX11G', 'score': 6.11}, {'connected_gene': 'TEX45', 'score': 0.39}]
chr19	GH19I007394	7394145	7396986	1.95	[{'connected_gene': 'ENSG00000267852', 'score': 550.77}, {'connected_gene': 'ARHGEF18', 'score': 550.25}, {'connected_gene': 'TEX45', 'score': 11.21}, {'connected_gene': 'PEX11G', 'score': 11.21}, {'connected_gene': 'NDUFA7', 'score': 4.55}, {'connected_gene': 'ENSG00000268861', 'score': 0.39}, {'connected_gene': 'GC19P007434', 'score': 0.28}]