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
ENST00000376572	[[11979647, 11980389], [11982692, 11983546], [11985261, 11986480]]	[[11980371, 11980389], [11982692, 11983546], [11985261, 11986294]]
ENST00000376576	[[11982231, 11983546], [11985261, 11986485]]	[[11982575, 11983546], [11985261, 11986294]]
NM_138346	[[11979644, 11980389], [11982692, 11983546], [11985261, 11986485]]	[[11980371, 11980389], [11982692, 11983546], [11985261, 11986294]]

Promoter

Chrom	Start	End	Description
chr1	11986442	11986502	CAGE_peak_1_at_KIAA2013_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I012033	12031616	12033052	0.57	[{'connected_gene': 'MFN2', 'score': 12.3}, {'connected_gene': 'TNFRSF8', 'score': 11.99}, {'connected_gene': 'KIAA2013', 'score': 11.3}, {'connected_gene': 'PLOD1', 'score': 11.04}, {'connected_gene': 'RN7SL649P', 'score': 0.77}, {'connected_gene': 'MIR6729', 'score': 0.77}, {'connected_gene': 'MIIP', 'score': 0.39}]
chr1	GH01I012034	12034201	12034800	0.86	[{'connected_gene': 'MFN2', 'score': 12.3}, {'connected_gene': 'KIAA2013', 'score': 10.99}, {'connected_gene': 'RN7SL649P', 'score': 0.77}, {'connected_gene': 'MIR6729', 'score': 0.44}]
chr1	GH01I012039	12039170	12041791	1.33	[{'connected_gene': 'MFN2', 'score': 8.41}, {'connected_gene': 'KIAA2013', 'score': 5.62}, {'connected_gene': 'GC01P012045', 'score': 0.77}, {'connected_gene': 'RN7SL649P', 'score': 0.77}]
chr1	GH01I011989	11989433	11991585	1.2	[{'connected_gene': 'MFN2', 'score': 72.86}, {'connected_gene': 'MIIP', 'score': 13.14}, {'connected_gene': 'PLOD1', 'score': 11.4}, {'connected_gene': 'KIAA2013', 'score': 11.29}, {'connected_gene': 'RNU5E-4P', 'score': 11.23}, {'connected_gene': 'RNU5E-1', 'score': 11.23}, {'connected_gene': 'NPPB', 'score': 3.73}, {'connected_gene': 'NPPA', 'score': 1.86}, {'connected_gene': 'ENSG00000270914', 'score': 0.31}]
chr1	GH01I011991	11991906	11993095	0.46	[{'connected_gene': 'MFN2', 'score': 69.4}, {'connected_gene': 'MIIP', 'score': 13.14}, {'connected_gene': 'PLOD1', 'score': 11.4}, {'connected_gene': 'KIAA2013', 'score': 11.29}, {'connected_gene': 'RNU5E-4P', 'score': 11.23}, {'connected_gene': 'RNU5E-1', 'score': 11.23}, {'connected_gene': 'ENSG00000270914', 'score': 0.34}]
chr1	GH01I011918	11918587	11919870	0.77	[{'connected_gene': 'MFN2', 'score': 18.28}, {'connected_gene': 'MIIP', 'score': 10.94}, {'connected_gene': 'NPPB', 'score': 10.82}, {'connected_gene': 'PLOD1', 'score': 5.66}, {'connected_gene': 'PIR39464', 'score': 0.44}, {'connected_gene': 'KIAA2013', 'score': 0.44}]
chr1	GH01I011978	11978437	11987026	2.78	[{'connected_gene': 'MFN2', 'score': 620.69}, {'connected_gene': 'ENSG00000226849', 'score': 21.95}, {'connected_gene': 'EXOSC10', 'score': 18.43}, {'connected_gene': 'MIIP', 'score': 18.04}, {'connected_gene': 'TNFRSF1B', 'score': 16.91}, {'connected_gene': 'PLOD1', 'score': 16.62}, {'connected_gene': 'CLCN6', 'score': 15.24}, {'connected_gene': 'TARDBP', 'score': 13.01}, {'connected_gene': 'KIAA2013', 'score': 11.56}, {'connected_gene': 'RNU5E-4P', 'score': 11.25}, {'connected_gene': 'RNU5E-1', 'score': 11.25}, {'connected_gene': 'NPPB', 'score': 10.29}, {'connected_gene': 'MTHFR', 'score': 7.41}, {'connected_gene': 'TNFRSF8', 'score': 6.4}, {'connected_gene': 'AGTRAP', 'score': 5.2}, {'connected_gene': 'FBXO6', 'score': 3.22}, {'connected_gene': 'ENSG00000270914', 'score': 0.29}]
chr1	GH01I012014	12014069	12015465	1.26	[{'connected_gene': 'MFN2', 'score': 41.45}, {'connected_gene': 'EXOSC10', 'score': 24.53}, {'connected_gene': 'MTOR', 'score': 19.76}, {'connected_gene': 'VPS13D', 'score': 12.53}, {'connected_gene': 'ENSG00000226849', 'score': 11.49}, {'connected_gene': 'ENSG00000271895', 'score': 10.21}, {'connected_gene': 'MIIP', 'score': 7.06}, {'connected_gene': 'KIAA2013', 'score': 5.85}, {'connected_gene': 'ENSG00000270914', 'score': 0.77}]
chr1	GH01I012032	12031504	12031533	0.59	[{'connected_gene': 'TNFRSF8', 'score': 11.85}, {'connected_gene': 'MFN2', 'score': 11.78}, {'connected_gene': 'KIAA2013', 'score': 11.3}, {'connected_gene': 'PLOD1', 'score': 10.81}, {'connected_gene': 'MIR6729', 'score': 0.77}, {'connected_gene': 'RN7SL649P', 'score': 0.44}, {'connected_gene': 'MIIP', 'score': 0.39}]
chr1	GH01I012031	12031384	12031493	0.62	[{'connected_gene': 'TNFRSF8', 'score': 11.85}, {'connected_gene': 'MFN2', 'score': 11.78}, {'connected_gene': 'KIAA2013', 'score': 11.3}, {'connected_gene': 'PLOD1', 'score': 10.81}, {'connected_gene': 'MIR6729', 'score': 0.77}, {'connected_gene': 'RN7SL649P', 'score': 0.44}, {'connected_gene': 'MIIP', 'score': 0.39}]
chr1	GH01I011924	11924377	11929016	2.44	[{'connected_gene': 'KIAA2013', 'score': 550.77}, {'connected_gene': 'MFN2', 'score': 19.99}, {'connected_gene': 'CLCN6', 'score': 10.77}, {'connected_gene': 'FBXO44', 'score': 10.31}, {'connected_gene': 'PLOD1', 'score': 8.39}, {'connected_gene': 'NPPA-AS1', 'score': 7.23}]
chr1	GH01I011930	11929077	11929341	0.51	[{'connected_gene': 'KIAA2013', 'score': 0.77}, {'connected_gene': 'PLOD1', 'score': 0.77}]
chr1	GH01I012018	12018670	12021069	2.04	[{'connected_gene': 'MIIP', 'score': 550.77}, {'connected_gene': 'UBIAD1', 'score': 27.44}, {'connected_gene': 'TNFRSF8', 'score': 12.1}, {'connected_gene': 'RNU6-777P', 'score': 11.37}, {'connected_gene': 'RPL23AP89', 'score': 11.36}, {'connected_gene': 'PLOD1', 'score': 10.86}, {'connected_gene': 'KIAA2013', 'score': 10.68}, {'connected_gene': 'LINC01647', 'score': 6.21}, {'connected_gene': 'NPPA-AS1', 'score': 5.03}, {'connected_gene': 'ENSG00000202461', 'score': 0.77}]
chr1	GH01I011885	11885471	11889433	1.03	[{'connected_gene': 'PLOD1', 'score': 23.57}, {'connected_gene': 'MFN2', 'score': 21.79}, {'connected_gene': 'MIIP', 'score': 15.8}, {'connected_gene': 'NPPB', 'score': 12.05}, {'connected_gene': 'KIAA2013', 'score': 12.0}, {'connected_gene': 'NPPA-AS1', 'score': 9.46}, {'connected_gene': 'LOC390997', 'score': 0.44}, {'connected_gene': 'RNU5E-1', 'score': 0.34}]
chr1	GH01I011879	11879965	11884055	1.83	[{'connected_gene': 'PLOD1', 'score': 18.36}, {'connected_gene': 'KIAA2013', 'score': 15.37}, {'connected_gene': 'NPPB', 'score': 13.97}, {'connected_gene': 'RNU5E-4P', 'score': 12.3}, {'connected_gene': 'RNU5E-1', 'score': 12.3}, {'connected_gene': 'NPPA-AS1', 'score': 10.84}, {'connected_gene': 'LOC102724659', 'score': 10.21}, {'connected_gene': 'C1orf167', 'score': 10.19}, {'connected_gene': 'LOC390997', 'score': 5.84}, {'connected_gene': 'ENSG00000226849', 'score': 4.4}, {'connected_gene': 'MFN2', 'score': 3.37}]
chr1	GH01I011929	11929546	11931945	1.58	[{'connected_gene': 'PLOD1', 'score': 8.77}, {'connected_gene': 'KIAA2013', 'score': 0.77}]
chr1	GH01I011920	11920519	11921584	0.49	[{'connected_gene': 'PLOD1', 'score': 6.03}, {'connected_gene': 'PIR39464', 'score': 0.44}, {'connected_gene': 'KIAA2013', 'score': 0.44}]
chr1	GH01I011856	11856431	11857480	0.38	[{'connected_gene': 'NPPB', 'score': 550.77}, {'connected_gene': 'NPPA-AS1', 'score': 22.09}, {'connected_gene': 'RNU5E-4P', 'score': 11.38}, {'connected_gene': 'RNU5E-1', 'score': 11.38}, {'connected_gene': 'LOC102724659', 'score': 10.76}, {'connected_gene': 'C1orf167', 'score': 10.73}, {'connected_gene': 'KIAA2013', 'score': 10.62}, {'connected_gene': 'MFN2', 'score': 10.38}, {'connected_gene': 'NPPA', 'score': 0.44}]
chr1	GH01I011872	11872160	11875814	0.56	[{'connected_gene': 'RNU5E-1', 'score': 12.16}, {'connected_gene': 'RNU5E-4P', 'score': 12.14}, {'connected_gene': 'NPPA-AS1', 'score': 12.1}, {'connected_gene': 'MFN2', 'score': 11.04}, {'connected_gene': 'PLOD1', 'score': 11.0}, {'connected_gene': 'KIAA2013', 'score': 10.8}, {'connected_gene': 'LOC102724659', 'score': 10.55}, {'connected_gene': 'C1orf167', 'score': 10.53}, {'connected_gene': 'MTHFR', 'score': 9.63}, {'connected_gene': 'LOC390997', 'score': 7.46}, {'connected_gene': 'CLCN6', 'score': 5.19}, {'connected_gene': 'NPPB', 'score': 0.37}]
chr1	GH01I011910	11910664	11910953	0.77	[{'connected_gene': 'RNU5E-4P', 'score': 550.77}, {'connected_gene': 'KIAA2013', 'score': 5.59}, {'connected_gene': 'PIR39464', 'score': 0.77}]
chr1	GH01I011907	11907231	11910363	2.15	[{'connected_gene': 'RNU5E-4P', 'score': 550.77}, {'connected_gene': 'RNU5E-1', 'score': 550.77}, {'connected_gene': 'TARDBP', 'score': 57.49}, {'connected_gene': 'UBIAD1', 'score': 53.62}, {'connected_gene': 'ENSG00000226849', 'score': 41.84}, {'connected_gene': 'CLCN6', 'score': 16.17}, {'connected_gene': 'VPS13D', 'score': 12.6}, {'connected_gene': 'SNORA59A', 'score': 12.39}, {'connected_gene': 'MFN2', 'score': 10.93}, {'connected_gene': 'EXOSC10', 'score': 10.87}, {'connected_gene': 'DHRS3', 'score': 10.44}, {'connected_gene': 'ENSG00000271895', 'score': 10.01}, {'connected_gene': 'NPPA-AS1', 'score': 9.43}, {'connected_gene': 'PLOD1', 'score': 8.05}, {'connected_gene': 'KIAA2013', 'score': 7.32}, {'connected_gene': 'MTHFR', 'score': 1.73}, {'connected_gene': 'MIIP', 'score': 1.3}]
chr1	GH01I011868	11868422	11869146	0.31	[{'connected_gene': 'NPPA-AS1', 'score': 12.17}, {'connected_gene': 'RNU5E-1', 'score': 11.83}, {'connected_gene': 'RNU5E-4P', 'score': 11.82}, {'connected_gene': 'KIAA2013', 'score': 10.56}, {'connected_gene': 'MTHFR', 'score': 10.49}, {'connected_gene': 'LOC390997', 'score': 0.44}, {'connected_gene': 'NPPB', 'score': 0.44}]
chr1	GH01I011813	11813672	11816065	0.92	[{'connected_gene': 'NPPA-AS1', 'score': 22.01}, {'connected_gene': 'CLCN6', 'score': 19.08}, {'connected_gene': 'NPPB', 'score': 11.04}, {'connected_gene': 'PLOD1', 'score': 10.65}, {'connected_gene': 'KIAA2013', 'score': 10.5}, {'connected_gene': 'MTHFR', 'score': 8.83}]