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
ENST00000225550	[[39577004, 39577238], [39577618, 39577839], [39578320, 39578446], [39578524, 39578686], [39579029, 39579186], [39580013, 39580096], [39580283, 39580775]]	[[39577129, 39577238], [39577618, 39577839], [39578320, 39578446], [39578524, 39578686], [39579029, 39579186], [39580013, 39580096], [39580283, 39580775]]
NM_003770	[[39576808, 39577238], [39577618, 39577839], [39578320, 39578446], [39578524, 39578686], [39579029, 39579186], [39580013, 39580096], [39580283, 39580822]]	[[39577129, 39577238], [39577618, 39577839], [39578320, 39578446], [39578524, 39578686], [39579029, 39579186], [39580013, 39580096], [39580283, 39580775]]

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr17	GH17I041424	41424575	41424634	0.5	[{'connected_gene': 'KRT37', 'score': 550.77}, {'connected_gene': 'KRT38', 'score': 0.37}, {'connected_gene': 'LOC100505782', 'score': 0.34}]
chr17	GH17I041440	41440906	41440965	0.5	[{'connected_gene': 'KRT38', 'score': 550.77}, {'connected_gene': 'KRT37', 'score': 0.37}]
chr17	GH17I041338	41338033	41343989	0.96	[{'connected_gene': 'KRT38', 'score': 20.57}, {'connected_gene': 'KRTAP16-1', 'score': 10.63}, {'connected_gene': 'KRTAP29-1', 'score': 10.61}, {'connected_gene': 'KRT31', 'score': 10.3}, {'connected_gene': 'LOC100505782', 'score': 10.28}, {'connected_gene': 'KRTAP17-1', 'score': 10.24}, {'connected_gene': 'KRTAP9-6', 'score': 10.09}, {'connected_gene': 'KRT37', 'score': 10.04}, {'connected_gene': 'ENSG00000234477', 'score': 9.95}, {'connected_gene': 'KRT32', 'score': 9.84}, {'connected_gene': 'RNU2-32P', 'score': 9.84}, {'connected_gene': 'KRTAP1-1', 'score': 9.82}, {'connected_gene': 'KRTAP1-3', 'score': 9.82}, {'connected_gene': 'KRTAP1-4', 'score': 9.81}, {'connected_gene': 'KRT40', 'score': 9.42}, {'connected_gene': 'KRT20', 'score': 9.39}, {'connected_gene': 'KRTAP2-5P', 'score': 9.36}, {'connected_gene': 'KRTAP2-4', 'score': 9.36}, {'connected_gene': 'KRT23', 'score': 8.62}, {'connected_gene': 'KRT36', 'score': 6.02}, {'connected_gene': 'ENSG00000108516', 'score': 0.44}, {'connected_gene': 'KRT33A', 'score': 0.44}]
chr17	GH17I041413	41413429	41413598	0.43	[{'connected_gene': 'KRT41P', 'score': 550.77}, {'connected_gene': 'KRT37', 'score': 0.39}, {'connected_gene': 'LOC100505782', 'score': 0.39}]
chr17	GH17I041352	41352992	41353325	0.66	[{'connected_gene': 'KRTAP2-1', 'score': 12.89}, {'connected_gene': 'KRTAP9-1', 'score': 9.33}, {'connected_gene': 'KRTAP2-2', 'score': 9.26}, {'connected_gene': 'KRTAP9-2', 'score': 8.89}, {'connected_gene': 'KRTAP9-9', 'score': 8.32}, {'connected_gene': 'KRT37', 'score': 4.16}, {'connected_gene': 'KRT40', 'score': 2.89}, {'connected_gene': 'KRTAP2-4', 'score': 1.96}, {'connected_gene': 'KRT35', 'score': 1.57}, {'connected_gene': 'KRT38', 'score': 1.52}, {'connected_gene': 'KRT33A', 'score': 0.77}, {'connected_gene': 'KRT33B', 'score': 0.37}]
chr17	GH17I040857	40857129	40857400	0.99	[{'connected_gene': 'THRA', 'score': 15.83}, {'connected_gene': 'ENSG00000259623', 'score': 12.29}, {'connected_gene': 'KRT20', 'score': 11.23}, {'connected_gene': 'KRT28', 'score': 10.63}, {'connected_gene': 'KRT222', 'score': 10.33}, {'connected_gene': 'KRTAP1-5', 'score': 9.82}, {'connected_gene': 'KRT37', 'score': 9.41}, {'connected_gene': 'KRTAP1-4', 'score': 9.23}, {'connected_gene': 'LOC100505782', 'score': 9.0}, {'connected_gene': 'KRT31', 'score': 9.0}, {'connected_gene': 'GC17P040954', 'score': 0.44}, {'connected_gene': 'ENSG00000265359', 'score': 0.44}, {'connected_gene': 'KRT12', 'score': 0.44}, {'connected_gene': 'LOC105371777', 'score': 0.44}]
chr17	GH17I041414	41414948	41421905	1.1	[{'connected_gene': 'KRT34', 'score': 37.98}, {'connected_gene': 'KRT32', 'score': 17.5}, {'connected_gene': 'KRT38', 'score': 8.95}, {'connected_gene': 'KRT36', 'score': 6.99}, {'connected_gene': 'KRT31', 'score': 6.63}, {'connected_gene': 'KRT37', 'score': 0.44}, {'connected_gene': 'KRT41P', 'score': 0.44}, {'connected_gene': 'LOC100505782', 'score': 0.37}]
chr17	GH17I041620	41620949	41627446	1.63	[{'connected_gene': 'KRT17', 'score': 554.56}, {'connected_gene': 'GC17M041622', 'score': 550.77}, {'connected_gene': 'GC17M041625', 'score': 550.77}, {'connected_gene': 'KRT9', 'score': 16.59}, {'connected_gene': 'KRT15', 'score': 13.38}, {'connected_gene': 'KRT14', 'score': 12.71}, {'connected_gene': 'KRT19', 'score': 12.27}, {'connected_gene': 'KRT40', 'score': 9.78}, {'connected_gene': 'ENSG00000234477', 'score': 9.37}, {'connected_gene': 'KRT37', 'score': 9.35}, {'connected_gene': 'KRT16', 'score': 7.62}, {'connected_gene': 'KRT36', 'score': 5.04}, {'connected_gene': 'JUP', 'score': 4.69}, {'connected_gene': 'CNP', 'score': 4.3}, {'connected_gene': 'RAB5C', 'score': 3.96}, {'connected_gene': 'KRT13', 'score': 1.59}, {'connected_gene': 'KRT42P', 'score': 0.37}]
chr17	GH17I041631	41631018	41632265	0.43	[{'connected_gene': 'KRT14', 'score': 11.26}, {'connected_gene': 'KRT9', 'score': 11.18}, {'connected_gene': 'KRT40', 'score': 9.78}, {'connected_gene': 'KRT37', 'score': 9.41}, {'connected_gene': 'KRT17', 'score': 0.44}, {'connected_gene': 'KRT42P', 'score': 0.44}]
chr17	GH17I041629	41629992	41630826	0.59	[{'connected_gene': 'KRT14', 'score': 11.26}, {'connected_gene': 'KRT9', 'score': 11.18}, {'connected_gene': 'KRT40', 'score': 9.78}, {'connected_gene': 'KRT37', 'score': 9.09}, {'connected_gene': 'KRT17', 'score': 0.44}, {'connected_gene': 'KRT42P', 'score': 0.44}]
chr17	GH17I041505	41505602	41505661	0.7	[{'connected_gene': 'KRT13', 'score': 550.77}, {'connected_gene': 'KRT37', 'score': 9.36}, {'connected_gene': 'ENSG00000229732', 'score': 0.77}]
chr17	GH17I040908	40908603	40917347	1.68	[{'connected_gene': 'KRT23', 'score': 18.92}, {'connected_gene': 'KRTAP3-2', 'score': 15.5}, {'connected_gene': 'MSL1', 'score': 11.03}, {'connected_gene': 'KRT20', 'score': 10.7}, {'connected_gene': 'TMEM99', 'score': 10.03}, {'connected_gene': 'KRT37', 'score': 9.73}, {'connected_gene': 'KRT28', 'score': 9.65}, {'connected_gene': 'KRT40', 'score': 9.55}, {'connected_gene': 'LOC100505782', 'score': 9.3}, {'connected_gene': 'KRT31', 'score': 9.29}, {'connected_gene': 'KRT38', 'score': 9.04}, {'connected_gene': 'KRT19', 'score': 4.71}, {'connected_gene': 'KRTAP1-5', 'score': 3.88}, {'connected_gene': 'KRTAP1-1', 'score': 3.26}, {'connected_gene': 'IGFBP4', 'score': 1.73}, {'connected_gene': 'GC17P040955', 'score': 0.44}, {'connected_gene': 'LOC105371777', 'score': 0.21}]
chr17	GH17I040900	40900290	40905306	1.42	[{'connected_gene': 'KRT23', 'score': 14.48}, {'connected_gene': 'SNORD124', 'score': 12.38}, {'connected_gene': 'KRT12', 'score': 10.98}, {'connected_gene': 'TMEM99', 'score': 10.06}, {'connected_gene': 'KRT28', 'score': 9.87}, {'connected_gene': 'KRTAP3-2', 'score': 9.77}, {'connected_gene': 'KRT40', 'score': 9.73}, {'connected_gene': 'KRT37', 'score': 9.68}, {'connected_gene': 'KRT38', 'score': 9.3}, {'connected_gene': 'KRT26', 'score': 9.14}, {'connected_gene': 'KRTAP3-1', 'score': 8.61}, {'connected_gene': 'GC17P040955', 'score': 0.37}, {'connected_gene': 'KRT20', 'score': 0.37}, {'connected_gene': 'LOC105371777', 'score': 0.23}]
chr17	GH17I040707	40707518	40708949	0.67	[{'connected_gene': 'KRT24', 'score': 36.16}, {'connected_gene': 'KRT27', 'score': 10.24}, {'connected_gene': 'KRT222', 'score': 10.2}, {'connected_gene': 'SMARCE1', 'score': 10.16}, {'connected_gene': 'KRT37', 'score': 9.14}, {'connected_gene': 'KRT223P', 'score': 0.39}]
chr17	GH17I040726	40726970	40728820	0.72	[{'connected_gene': 'KRT24', 'score': 11.96}, {'connected_gene': 'TMEM99', 'score': 10.93}, {'connected_gene': 'KRT28', 'score': 9.87}, {'connected_gene': 'KRT222', 'score': 9.51}, {'connected_gene': 'SMARCE1', 'score': 9.49}, {'connected_gene': 'KRT37', 'score': 9.03}, {'connected_gene': 'KRT223P', 'score': 0.44}, {'connected_gene': 'KRT25', 'score': 0.31}]
chr17	GH17I041084	41084101	41084160	0.73	[{'connected_gene': 'KRTAP4-7', 'score': 550.77}, {'connected_gene': 'KRTAP1-5', 'score': 11.1}, {'connected_gene': 'KRTAP1-1', 'score': 10.98}, {'connected_gene': 'KRTAP1-3', 'score': 10.97}, {'connected_gene': 'KRTAP1-4', 'score': 10.95}, {'connected_gene': 'KRTAP2-3', 'score': 10.92}, {'connected_gene': 'KRTAP4-4', 'score': 10.21}, {'connected_gene': 'KRTAP4-3', 'score': 10.2}, {'connected_gene': 'KRTAP4-5', 'score': 9.91}, {'connected_gene': 'KRT37', 'score': 9.58}, {'connected_gene': 'KRTAP3-2', 'score': 9.42}, {'connected_gene': 'KRT31', 'score': 8.78}, {'connected_gene': 'LOC100505782', 'score': 8.78}, {'connected_gene': 'GC17M041060', 'score': 0.44}]
chr17	GH17I041557	41557145	41557543	0.22	[{'connected_gene': 'GC17M041544', 'score': 550.77}, {'connected_gene': 'KRTAP9-2', 'score': 21.61}, {'connected_gene': 'KRTAP9-1', 'score': 12.68}, {'connected_gene': 'KRTAP9-9', 'score': 11.79}, {'connected_gene': 'KRT16', 'score': 7.03}, {'connected_gene': 'KRT37', 'score': 4.05}, {'connected_gene': 'KRTAP2-4', 'score': 2.3}, {'connected_gene': 'KRT38', 'score': 2.26}, {'connected_gene': 'KRT35', 'score': 1.97}, {'connected_gene': 'KRT9', 'score': 0.39}]
chr17	GH17I041499	41499613	41500932	1.52	[{'connected_gene': 'ENSG00000229732', 'score': 550.77}, {'connected_gene': 'KRTAP2-1', 'score': 7.15}, {'connected_gene': 'KRTAP9-2', 'score': 5.39}, {'connected_gene': 'KRT38', 'score': 5.38}, {'connected_gene': 'KRTAP2-2', 'score': 5.25}, {'connected_gene': 'KRTAP9-1', 'score': 5.17}, {'connected_gene': 'KRTAP9-9', 'score': 4.78}, {'connected_gene': 'KRT34', 'score': 4.16}, {'connected_gene': 'KRT37', 'score': 2.64}, {'connected_gene': 'KRTAP2-4', 'score': 1.58}, {'connected_gene': 'KRT36', 'score': 0.44}]
chr17	GH17I041534	41534567	41539918	1.26	[{'connected_gene': 'ENSG00000267758', 'score': 13.96}, {'connected_gene': 'SMARCE1', 'score': 12.9}, {'connected_gene': 'KRT36', 'score': 10.58}, {'connected_gene': 'STAT5A', 'score': 10.55}, {'connected_gene': 'KRT35', 'score': 10.53}, {'connected_gene': 'GHDC', 'score': 10.37}, {'connected_gene': 'NAGLU', 'score': 10.16}, {'connected_gene': 'KRT31', 'score': 9.85}, {'connected_gene': 'LOC100505782', 'score': 9.85}, {'connected_gene': 'KRT19', 'score': 6.56}, {'connected_gene': 'KRTAP2-1', 'score': 6.27}, {'connected_gene': 'KRTAP2-2', 'score': 4.82}, {'connected_gene': 'KRTAP9-1', 'score': 4.79}, {'connected_gene': 'KRTAP9-2', 'score': 4.34}, {'connected_gene': 'KRTAP9-9', 'score': 4.24}, {'connected_gene': 'KRT37', 'score': 1.9}, {'connected_gene': 'LINC00974', 'score': 0.37}]
chr17	GH17I041333	41333787	41335553	0.51	[{'connected_gene': 'ENSG00000108516', 'score': 550.77}, {'connected_gene': 'KRT34', 'score': 36.98}, {'connected_gene': 'KRTAP29-1', 'score': 11.12}, {'connected_gene': 'KRT31', 'score': 10.35}, {'connected_gene': 'LOC100505782', 'score': 10.35}, {'connected_gene': 'KRT37', 'score': 9.72}, {'connected_gene': 'ENSG00000234477', 'score': 9.55}, {'connected_gene': 'KRT40', 'score': 9.36}, {'connected_gene': 'KRT33A', 'score': 0.37}]
chr17	GH17I041649	41649756	41659535	1.64	[{'connected_gene': 'ENSG00000267758', 'score': 25.24}, {'connected_gene': 'JUP', 'score': 20.78}, {'connected_gene': 'HSD17B1', 'score': 20.59}, {'connected_gene': 'DHX58', 'score': 19.59}, {'connected_gene': 'GHDC', 'score': 19.26}, {'connected_gene': 'ENSG00000259623', 'score': 16.31}, {'connected_gene': 'KRT14', 'score': 16.17}, {'connected_gene': 'CNP', 'score': 13.3}, {'connected_gene': 'PSMC3IP', 'score': 13.05}, {'connected_gene': 'RETREG3', 'score': 12.93}, {'connected_gene': 'KRT37', 'score': 11.39}, {'connected_gene': 'HSD17B1P1', 'score': 11.02}, {'connected_gene': 'NT5C3B', 'score': 10.96}, {'connected_gene': 'STAT5A', 'score': 10.55}, {'connected_gene': 'COASY', 'score': 10.46}, {'connected_gene': 'NAGLU', 'score': 10.16}, {'connected_gene': 'KAT2A', 'score': 9.79}, {'connected_gene': 'ENSG00000236194', 'score': 6.49}, {'connected_gene': 'KRT17', 'score': 6.03}, {'connected_gene': 'KRT16', 'score': 5.84}, {'connected_gene': 'HAP1', 'score': 5.52}, {'connected_gene': 'KRT42P', 'score': 5.49}, {'connected_gene': 'C17orf113', 'score': 5.42}, {'connected_gene': 'KRT19', 'score': 4.84}, {'connected_gene': 'KRT15', 'score': 2.41}, {'connected_gene': 'KRT9', 'score': 2.02}, {'connected_gene': 'KRT36', 'score': 1.7}, {'connected_gene': 'ENSG00000278954', 'score': 0.39}]
chr17	GH17I040848	40848621	40855486	1.15	[{'connected_gene': 'GC17P040954', 'score': 550.77}, {'connected_gene': 'ENSG00000265359', 'score': 550.77}, {'connected_gene': 'TMEM99', 'score': 32.44}, {'connected_gene': 'KRT20', 'score': 10.9}, {'connected_gene': 'KRT28', 'score': 10.64}, {'connected_gene': 'ENSG00000234477', 'score': 10.0}, {'connected_gene': 'KRT37', 'score': 9.65}, {'connected_gene': 'LOC100505782', 'score': 9.15}, {'connected_gene': 'KRT31', 'score': 9.15}, {'connected_gene': 'MED24', 'score': 6.06}, {'connected_gene': 'LOC105371777', 'score': 0.77}]
chr17	GH17I041336	41336169	41336318	0.31	[{'connected_gene': 'ENSG00000108516', 'score': 550.77}, {'connected_gene': 'KRTAP29-1', 'score': 10.48}, {'connected_gene': 'KRTAP16-1', 'score': 10.37}, {'connected_gene': 'KRTAP17-1', 'score': 10.27}, {'connected_gene': 'KRTAP9-6', 'score': 10.1}, {'connected_gene': 'KRT31', 'score': 10.04}, {'connected_gene': 'KRT37', 'score': 10.03}, {'connected_gene': 'LOC100505782', 'score': 10.03}, {'connected_gene': 'ENSG00000234477', 'score': 9.95}, {'connected_gene': 'KRT32', 'score': 9.83}, {'connected_gene': 'RNU2-32P', 'score': 9.83}, {'connected_gene': 'KRTAP1-1', 'score': 9.82}, {'connected_gene': 'KRTAP1-4', 'score': 9.82}, {'connected_gene': 'KRTAP1-3', 'score': 9.81}, {'connected_gene': 'KRT40', 'score': 9.42}, {'connected_gene': 'KRTAP2-5P', 'score': 9.37}, {'connected_gene': 'KRTAP2-4', 'score': 9.36}, {'connected_gene': 'KRT33A', 'score': 0.39}]