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
ENST00000360472	[[160175126, 160175312], [160181332, 160181506], [160182899, 160183055], [160183211, 160185166]]	[[160181334, 160181506], [160182899, 160183055], [160183211, 160183276]]
ENST00000368077	[[160175169, 160175312], [160181332, 160181440], [160182899, 160183055], [160183211, 160183825]]	[[160181334, 160181440], [160182899, 160183055], [160183211, 160183276]]
ENST00000368076	[[160175210, 160175312], [160176922, 160177027], [160178253, 160178455], [160181332, 160181506], [160182899, 160183055], [160183211, 160185166]]	[[160178394, 160178455], [160181332, 160181506], [160182899, 160183055], [160183211, 160183276]]
ENST00000488858	[[160181076, 160181104], [160181332, 160181506], [160182899, 160183055], [160183211, 160183507]]	None
NR_123724	[[160175108, 160175312], [160182899, 160183055], [160183211, 160185166]]	None
NM_001297578	[[160175108, 160175312], [160181332, 160181440], [160182899, 160183055], [160183211, 160185166]]	[[160181334, 160181440], [160182899, 160183055], [160183211, 160183276]]
NM_003768	[[160175108, 160175312], [160181332, 160181506], [160182899, 160183055], [160183211, 160185166]]	[[160181334, 160181506], [160182899, 160183055], [160183211, 160183276]]
NM_001297577	[[160175108, 160175312], [160176922, 160177027], [160181332, 160181506], [160182899, 160183055], [160183211, 160185166]]	[[160181334, 160181506], [160182899, 160183055], [160183211, 160183276]]
NM_001297576	[[160175108, 160175312], [160176922, 160177027], [160178253, 160178455], [160181332, 160181506], [160182899, 160183055], [160183211, 160185166]]	[[160178394, 160178455], [160181332, 160181506], [160182899, 160183055], [160183211, 160183276]]

Promoter

Chrom	Start	End	Description
chr1	160175117	160175136	CAGE_peak_2_at_PEA15_5end
chr1	160175166	160175195	CAGE_peak_1_at_PEA15_5end
chr1	160175201	160175212	CAGE_peak_4_at_PEA15_5end
chr1	160181324	160181354	CAGE_peak_5_at_PEA15_5end
chr1	160181355	160181372	CAGE_peak_8_at_PEA15_5end
chr1	160181381	160181398	CAGE_peak_10_at_PEA15_5end
chr1	160181440	160181454	CAGE_peak_7_at_PEA15_5end
chr1	160183342	160183398	CAGE_peak_6_at_PEA15_5end
chr1	160183499	160183517	CAGE_peak_14_at_PEA15_5end
chr1	160183534	160183555	CAGE_peak_9_at_PEA15_5end
chr1	160183747	160183758	CAGE_peak_23_at_PEA15_5end
chr1	160183899	160183921	CAGE_peak_12_at_PEA15_5end
chr1	160183945	160183955	CAGE_peak_25_at_PEA15_5end
chr1	160183976	160184026	CAGE_peak_3_at_PEA15_5end
chr1	160184028	160184039	CAGE_peak_24_at_PEA15_5end
chr1	160184048	160184064	CAGE_peak_11_at_PEA15_5end
chr1	160184065	160184076	CAGE_peak_22_at_PEA15_5end
chr1	160184077	160184087	CAGE_peak_21_at_PEA15_5end
chr1	160184231	160184244	CAGE_peak_17_at_PEA15_5end
chr1	160184506	160184519	CAGE_peak_15_at_PEA15_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I160095	160095441	160103654	2.65	[{'connected_gene': 'IGSF8', 'score': 561.74}, {'connected_gene': 'ATP1A4', 'score': 15.64}, {'connected_gene': 'CASQ1', 'score': 11.06}, {'connected_gene': 'KCNJ10', 'score': 11.02}, {'connected_gene': 'PEA15', 'score': 10.44}, {'connected_gene': 'DCAF8', 'score': 10.43}, {'connected_gene': 'PEX19', 'score': 10.42}, {'connected_gene': 'PIGM', 'score': 9.93}, {'connected_gene': 'ENSG00000225279', 'score': 9.74}, {'connected_gene': 'ATP1A2', 'score': 2.2}, {'connected_gene': 'KCNJ9', 'score': 1.98}]
chr1	GH01I160203	160203962	160211585	2.19	[{'connected_gene': 'PEA15', 'score': 550.77}, {'connected_gene': 'LOC729867', 'score': 550.77}, {'connected_gene': 'NCSTN', 'score': 22.64}, {'connected_gene': 'LOC100287049', 'score': 10.96}, {'connected_gene': 'DCAF8', 'score': 10.96}, {'connected_gene': 'IGSF8', 'score': 10.52}, {'connected_gene': 'PIGM', 'score': 9.1}, {'connected_gene': 'COPA', 'score': 8.45}]
chr1	GH01I160250	160250630	160252660	0.94	[{'connected_gene': 'CASQ1', 'score': 11.35}, {'connected_gene': 'PEA15', 'score': 10.92}, {'connected_gene': 'ATP1A2', 'score': 10.6}, {'connected_gene': 'IGSF8', 'score': 10.56}, {'connected_gene': 'DCAF8', 'score': 0.39}, {'connected_gene': 'GC01P160261', 'score': 0.39}, {'connected_gene': 'ENSG00000258465', 'score': 0.29}, {'connected_gene': 'PIR40871', 'score': 0.28}]
chr1	GH01I160156	160156050	160157141	0.4	[{'connected_gene': 'CASQ1', 'score': 12.15}, {'connected_gene': 'ATP1A2', 'score': 11.64}, {'connected_gene': 'PEA15', 'score': 10.76}, {'connected_gene': 'IGSF8', 'score': 10.52}, {'connected_gene': 'PIGM', 'score': 8.81}, {'connected_gene': 'ATP1A4', 'score': 6.63}, {'connected_gene': 'GC01P160171', 'score': 0.37}]
chr1	GH01I160157	160157769	160158819	0.69	[{'connected_gene': 'CASQ1', 'score': 12.15}, {'connected_gene': 'ATP1A2', 'score': 11.64}, {'connected_gene': 'PEA15', 'score': 10.76}, {'connected_gene': 'IGSF8', 'score': 10.52}, {'connected_gene': 'PIGM', 'score': 8.81}, {'connected_gene': 'ATP1A4', 'score': 5.67}, {'connected_gene': 'GC01P160171', 'score': 0.39}]
chr1	GH01I160187	160187430	160194124	1.9	[{'connected_gene': 'CASQ1', 'score': 566.16}, {'connected_gene': 'USP21', 'score': 39.43}, {'connected_gene': 'LOC100287049', 'score': 31.12}, {'connected_gene': 'PPOX', 'score': 27.9}, {'connected_gene': 'LOC729867', 'score': 22.43}, {'connected_gene': 'NCSTN', 'score': 18.53}, {'connected_gene': 'SNHG28', 'score': 14.99}, {'connected_gene': 'RPSAP18', 'score': 12.38}, {'connected_gene': 'SLAMF8', 'score': 11.13}, {'connected_gene': 'B4GALT3', 'score': 10.65}, {'connected_gene': 'DEDD', 'score': 10.53}, {'connected_gene': 'DCAF8', 'score': 10.45}, {'connected_gene': 'ACKR1', 'score': 10.14}, {'connected_gene': 'CADM3-AS1', 'score': 9.82}, {'connected_gene': 'ATP1A4', 'score': 5.76}, {'connected_gene': 'CFAP45', 'score': 5.32}, {'connected_gene': 'COPA', 'score': 4.97}, {'connected_gene': 'PEA15', 'score': 0.39}]
chr1	GH01I160195	160195063	160198088	0.38	[{'connected_gene': 'CASQ1', 'score': 11.73}, {'connected_gene': 'NCSTN', 'score': 11.68}, {'connected_gene': 'PEA15', 'score': 0.44}]
chr1	GH01I160139	160139335	160142648	0.31	[{'connected_gene': 'ATP1A4', 'score': 19.17}, {'connected_gene': 'CASQ1', 'score': 17.25}, {'connected_gene': 'ATP1A2', 'score': 11.87}, {'connected_gene': 'DCAF8', 'score': 10.87}, {'connected_gene': 'IGSF8', 'score': 10.64}, {'connected_gene': 'LOC100287049', 'score': 10.39}, {'connected_gene': 'KCNJ10', 'score': 9.87}, {'connected_gene': 'PIGM', 'score': 9.74}, {'connected_gene': 'PEA15', 'score': 6.12}, {'connected_gene': 'GC01M160128', 'score': 0.39}]
chr1	GH01I160111	160111917	160118660	1.63	[{'connected_gene': 'ATP1A2', 'score': 560.0}, {'connected_gene': 'ATP1A4', 'score': 8.92}, {'connected_gene': 'IGSF8', 'score': 7.33}, {'connected_gene': 'KCNJ10', 'score': 4.75}, {'connected_gene': 'KCNJ9', 'score': 4.46}, {'connected_gene': 'PEA15', 'score': 2.38}]
chr1	GH01I160085	160085731	160087163	1.23	[{'connected_gene': 'ATP1A2', 'score': 15.59}, {'connected_gene': 'KCNJ9', 'score': 15.36}, {'connected_gene': 'PIGM', 'score': 10.43}, {'connected_gene': 'IGSF8', 'score': 8.21}, {'connected_gene': 'ATP1A4', 'score': 8.2}, {'connected_gene': 'KCNJ10', 'score': 4.63}, {'connected_gene': 'PEA15', 'score': 2.29}]
chr1	GH01I160104	160104001	160105312	0.78	[{'connected_gene': 'KCNJ9', 'score': 11.31}, {'connected_gene': 'CASQ1', 'score': 11.07}, {'connected_gene': 'PEA15', 'score': 10.44}, {'connected_gene': 'DCAF8', 'score': 10.44}, {'connected_gene': 'PEX19', 'score': 10.43}, {'connected_gene': 'PIGM', 'score': 9.92}, {'connected_gene': 'ATP1A4', 'score': 9.82}, {'connected_gene': 'ENSG00000225279', 'score': 9.72}, {'connected_gene': 'KCNJ10', 'score': 9.61}, {'connected_gene': 'IGSF8', 'score': 7.84}, {'connected_gene': 'ATP1A2', 'score': 0.39}]
chr1	GH01I160255	160255755	160256620	0.43	[{'connected_gene': 'NCSTN', 'score': 21.49}, {'connected_gene': 'CASQ1', 'score': 11.26}, {'connected_gene': 'PEA15', 'score': 10.9}, {'connected_gene': 'ATP1A2', 'score': 10.59}, {'connected_gene': 'IGSF8', 'score': 10.56}, {'connected_gene': 'DCAF8', 'score': 0.44}, {'connected_gene': 'GC01P160261', 'score': 0.44}, {'connected_gene': 'ENSG00000258465', 'score': 0.31}, {'connected_gene': 'PIR40871', 'score': 0.26}]
chr1	GH01I160254	160254853	160255710	0.2	[{'connected_gene': 'NCSTN', 'score': 29.37}, {'connected_gene': 'CASQ1', 'score': 11.27}, {'connected_gene': 'PEA15', 'score': 10.92}, {'connected_gene': 'ATP1A2', 'score': 10.6}, {'connected_gene': 'IGSF8', 'score': 10.56}, {'connected_gene': 'DCAF8', 'score': 0.44}, {'connected_gene': 'GC01P160261', 'score': 0.44}, {'connected_gene': 'ENSG00000258465', 'score': 0.31}, {'connected_gene': 'PIR40871', 'score': 0.26}]
chr1	GH01I160331	160331921	160333166	0.52	[{'connected_gene': 'NCSTN', 'score': 25.24}, {'connected_gene': 'NHLH1', 'score': 11.15}, {'connected_gene': 'PEA15', 'score': 10.28}, {'connected_gene': 'RNU4-42P', 'score': 10.15}, {'connected_gene': 'IGSF8', 'score': 9.54}, {'connected_gene': 'GC01M160326', 'score': 0.44}, {'connected_gene': 'ENSG00000202078', 'score': 0.44}, {'connected_gene': 'COPA', 'score': 0.39}]
chr1	GH01I160212	160212450	160212789	0.44	[{'connected_gene': 'PIR40871', 'score': 550.77}, {'connected_gene': 'CASQ1', 'score': 11.44}, {'connected_gene': 'NHLH1', 'score': 10.43}, {'connected_gene': 'RNU4-42P', 'score': 9.55}, {'connected_gene': 'LOC729867', 'score': 0.77}, {'connected_gene': 'PEA15', 'score': 0.44}]
chr1	GH01I160123	160123023	160129819	1.3	[{'connected_gene': 'GC01P160126', 'score': 550.77}, {'connected_gene': 'GC01P160125', 'score': 550.77}, {'connected_gene': 'ATP1A4', 'score': 61.58}, {'connected_gene': 'IGSF8', 'score': 15.94}, {'connected_gene': 'PEA15', 'score': 15.62}, {'connected_gene': 'CASQ1', 'score': 11.14}, {'connected_gene': 'KCNJ9', 'score': 10.25}, {'connected_gene': 'PIGM', 'score': 9.42}, {'connected_gene': 'ATP1A2', 'score': 7.23}, {'connected_gene': 'GC01M160128', 'score': 0.77}]
chr1	GH01I160324	160324357	160331793	0.59	[{'connected_gene': 'GC01M160326', 'score': 550.77}, {'connected_gene': 'ENSG00000202078', 'score': 550.77}, {'connected_gene': 'NCSTN', 'score': 34.49}, {'connected_gene': 'COPA', 'score': 16.96}, {'connected_gene': 'USP21', 'score': 13.47}, {'connected_gene': 'B4GALT3', 'score': 11.89}, {'connected_gene': 'PEX19', 'score': 11.28}, {'connected_gene': 'NHLH1', 'score': 11.25}, {'connected_gene': 'DCAF8', 'score': 11.16}, {'connected_gene': 'CASQ1', 'score': 11.01}, {'connected_gene': 'PPOX', 'score': 10.81}, {'connected_gene': 'PEA15', 'score': 10.54}, {'connected_gene': 'IGSF8', 'score': 10.33}, {'connected_gene': 'RNU4-42P', 'score': 10.28}, {'connected_gene': 'DEDD', 'score': 9.86}]