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
ENST00000487588	[[99777889, 99778131], [99786012, 99786073], [99786999, 99787115], [99787805, 99787868]]	None
ENST00000422537	[[99778409, 99778681], [99785834, 99785933], [99786012, 99786073], [99786999, 99787115], [99787805, 99787892], [99787972, 99788109], [99790377, 99790479], [99797293, 99797390]]	[[99785837, 99785933], [99786012, 99786073], [99786999, 99787115], [99787805, 99787892], [99787972, 99788109], [99790377, 99790479], [99797293, 99797390]]
ENST00000464685	[[99785725, 99786073], [99786999, 99787115], [99787805, 99790479], [99797293, 99797425]]	None
ENST00000289359	[[99785725, 99785933], [99786012, 99786073], [99786999, 99787115], [99787805, 99787892], [99787972, 99788109], [99790377, 99790479], [99797293, 99797521]]	[[99785837, 99785933], [99786012, 99786073], [99786999, 99787115], [99787805, 99787892], [99787972, 99788109], [99790377, 99790479], [99797293, 99797444]]
ENST00000483721	[[99785728, 99786073], [99786999, 99787368]]	None
ENST00000409107	[[99785907, 99785933], [99786012, 99786073], [99786999, 99787115], [99787972, 99788109], [99790377, 99790479], [99797293, 99797513]]	[[99785907, 99785933], [99786012, 99786073], [99786999, 99787115], [99787972, 99788109], [99790377, 99790479], [99797293, 99797444]]
ENST00000466880	[[99786997, 99787115], [99787805, 99787892], [99787972, 99788109], [99789876, 99789965], [99790377, 99790479], [99794752, 99794798]]	None
ENST00000438121	[[99789809, 99790479], [99797169, 99797498]]	[[99797282, 99797444]]
ENST00000413710	[[99789863, 99789965], [99790377, 99790479], [99797293, 99797490]]	None
NM_001320417	[[99785725, 99785933], [99786012, 99786073], [99786999, 99787115], [99787805, 99787892], [99787972, 99788109], [99790377, 99790479], [99797169, 99797524]]	[[99785837, 99785933], [99786012, 99786073], [99786999, 99787115], [99787805, 99787892], [99787972, 99788109], [99790377, 99790426]]
NM_001320418	[[99785725, 99786073], [99786999, 99787115], [99787805, 99787892], [99787972, 99788109], [99790377, 99790479], [99797293, 99797524]]	[[99785958, 99786073], [99786999, 99787115], [99787805, 99787892], [99787972, 99788109], [99790377, 99790479], [99797293, 99797444]]
NM_138798	[[99785725, 99785933], [99786012, 99786073], [99786999, 99787115], [99787805, 99787892], [99787972, 99788109], [99790377, 99790479], [99797293, 99797524]]	[[99785837, 99785933], [99786012, 99786073], [99786999, 99787115], [99787805, 99787892], [99787972, 99788109], [99790377, 99790479], [99797293, 99797444]]
NM_001320419	[[99785725, 99785933], [99786012, 99786073], [99786999, 99787115], [99787972, 99788109], [99790377, 99790479], [99797293, 99797524]]	[[99785837, 99785933], [99786012, 99786073], [99786999, 99787115], [99787972, 99788109], [99790377, 99790479], [99797293, 99797444]]

Promoter

Chrom	Start	End	Description
chr2	99797442	99797465	CAGE_peak_2_at_MITD1_5end
chr2	99797473	99797530	CAGE_peak_1_at_MITD1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr2	GH02I099156	99156958	99157107	0.38	[{'connected_gene': 'TSGA10', 'score': 11.72}, {'connected_gene': 'ENSG00000273155', 'score': 0.77}, {'connected_gene': 'LIPT1', 'score': 0.77}, {'connected_gene': 'ENSG00000241962', 'score': 0.37}, {'connected_gene': 'MITD1', 'score': 0.34}]
chr2	GH02I099323	99323688	99325091	0.31	[{'connected_gene': 'TSGA10', 'score': 25.72}, {'connected_gene': 'REV1', 'score': 15.67}, {'connected_gene': 'ENSG00000241962', 'score': 12.08}, {'connected_gene': 'MITD1', 'score': 11.49}, {'connected_gene': 'MRPL30', 'score': 11.49}, {'connected_gene': 'LIPT1', 'score': 10.01}, {'connected_gene': 'LYG1', 'score': 8.95}, {'connected_gene': 'PIR33754', 'score': 0.44}, {'connected_gene': 'EIF5B', 'score': 0.39}, {'connected_gene': 'TXNDC9', 'score': 0.37}]
chr2	GH02I098908	98908312	98910378	1.53	[{'connected_gene': 'LOC550644', 'score': 55.15}, {'connected_gene': 'REV1', 'score': 45.25}, {'connected_gene': 'ENSG00000273306', 'score': 42.58}, {'connected_gene': 'UNC50', 'score': 37.13}, {'connected_gene': 'MITD1', 'score': 32.47}, {'connected_gene': 'LIPT1', 'score': 31.67}, {'connected_gene': 'TMEM131', 'score': 29.71}, {'connected_gene': 'KIAA1211L', 'score': 13.34}, {'connected_gene': 'RNU7-46P', 'score': 0.2}]
chr2	GH02I099158	99158558	99158617	0.5	[{'connected_gene': 'LIPT1', 'score': 550.77}, {'connected_gene': 'ENSG00000273155', 'score': 0.77}, {'connected_gene': 'ENSG00000241962', 'score': 0.37}, {'connected_gene': 'MITD1', 'score': 0.34}]
chr2	GH02I099662	99662299	99664152	0.72	[{'connected_gene': 'AFF3', 'score': 4.95}, {'connected_gene': 'MITD1', 'score': 4.87}, {'connected_gene': 'GC02P099639', 'score': 0.34}, {'connected_gene': 'LOC105373504', 'score': 0.29}]
chr2	GH02I098501	98501439	98509999	1.66	[{'connected_gene': 'INPP4A', 'score': 26.31}, {'connected_gene': 'MITD1', 'score': 18.01}, {'connected_gene': 'TMEM131', 'score': 14.76}, {'connected_gene': 'ENSG00000273306', 'score': 13.82}, {'connected_gene': 'REV1', 'score': 11.95}, {'connected_gene': 'UNC50', 'score': 10.97}, {'connected_gene': 'LOC550644', 'score': 9.99}, {'connected_gene': 'ENSG00000227987', 'score': 9.94}, {'connected_gene': 'CNGA3', 'score': 9.94}, {'connected_gene': 'MGAT4A', 'score': 9.49}, {'connected_gene': 'LYG1', 'score': 4.19}, {'connected_gene': 'PIR35284', 'score': 0.44}, {'connected_gene': 'PIR47012', 'score': 0.37}]
chr2	GH02I099179	99179845	99183227	2.12	[{'connected_gene': 'MITD1', 'score': 585.99}, {'connected_gene': 'MRPL30', 'score': 550.77}, {'connected_gene': 'TSGA10', 'score': 71.22}, {'connected_gene': 'UNC50', 'score': 34.98}, {'connected_gene': 'REV1', 'score': 24.87}, {'connected_gene': 'LIPT1', 'score': 23.18}, {'connected_gene': 'ENSG00000273306', 'score': 17.53}, {'connected_gene': 'LOC550644', 'score': 13.74}, {'connected_gene': 'ENSG00000241962', 'score': 6.27}, {'connected_gene': 'LYG1', 'score': 5.61}, {'connected_gene': 'ENSG00000273155', 'score': 0.31}, {'connected_gene': 'LYG2', 'score': 0.18}]
chr2	GH02I099180	99179084	99179463	0.63	[{'connected_gene': 'MITD1', 'score': 550.77}, {'connected_gene': 'MRPL30', 'score': 550.77}, {'connected_gene': 'LIPT1', 'score': 11.76}, {'connected_gene': 'TSGA10', 'score': 11.76}, {'connected_gene': 'KIAA1211L', 'score': 5.16}, {'connected_gene': 'ENSG00000273155', 'score': 0.34}, {'connected_gene': 'ENSG00000241962', 'score': 0.28}]
chr2	GH02I099863	99863619	99865587	0.59	[{'connected_gene': 'LYG1', 'score': 4.62}, {'connected_gene': 'MITD1', 'score': 4.25}, {'connected_gene': 'TSGA10', 'score': 3.83}, {'connected_gene': 'GC02P099881', 'score': 0.37}, {'connected_gene': 'LOC105373504', 'score': 0.1}, {'connected_gene': 'AFF3', 'score': 0.06}]
chr2	GH02I098767	98767627	98773722	1.45	[{'connected_gene': 'MGAT4A', 'score': 19.86}, {'connected_gene': 'ENSG00000273306', 'score': 15.16}, {'connected_gene': 'REV1', 'score': 15.09}, {'connected_gene': 'MITD1', 'score': 12.98}, {'connected_gene': 'TMEM131', 'score': 12.41}, {'connected_gene': 'LOC550644', 'score': 11.31}, {'connected_gene': 'UNC50', 'score': 9.81}, {'connected_gene': 'TSGA10', 'score': 9.05}, {'connected_gene': 'LYG1', 'score': 7.23}, {'connected_gene': 'INPP4A', 'score': 6.68}, {'connected_gene': 'C2orf15', 'score': 4.36}, {'connected_gene': 'LIPT1', 'score': 2.87}, {'connected_gene': 'LOC101927070', 'score': 0.77}]
chr2	GH02I098725	98725741	98733104	2.37	[{'connected_gene': 'MGAT4A', 'score': 552.38}, {'connected_gene': 'MITD1', 'score': 11.15}, {'connected_gene': 'RNU4-84P', 'score': 11.06}, {'connected_gene': 'LOC550644', 'score': 10.6}, {'connected_gene': 'RNU7-46P', 'score': 10.6}, {'connected_gene': 'LYG1', 'score': 4.37}, {'connected_gene': 'INPP4A', 'score': 1.48}, {'connected_gene': 'YWHAQP5', 'score': 0.28}]
chr2	GH02I099334	99334998	99338930	2.11	[{'connected_gene': 'TXNDC9', 'score': 550.77}, {'connected_gene': 'EIF5B', 'score': 550.77}, {'connected_gene': 'LOC550644', 'score': 23.76}, {'connected_gene': 'TSGA10', 'score': 15.84}, {'connected_gene': 'REV1', 'score': 14.81}, {'connected_gene': 'ENSG00000273306', 'score': 12.29}, {'connected_gene': 'UNC50', 'score': 11.68}, {'connected_gene': 'MITD1', 'score': 10.31}, {'connected_gene': 'LYG1', 'score': 9.45}, {'connected_gene': 'PIR33754', 'score': 0.37}]
chr2	GH02I099877	99877917	99883954	1.87	[{'connected_gene': 'GC02P099881', 'score': 550.77}, {'connected_gene': 'LOC550644', 'score': 32.33}, {'connected_gene': 'ENSG00000273306', 'score': 26.44}, {'connected_gene': 'REV1', 'score': 23.18}, {'connected_gene': 'LIPT1', 'score': 11.86}, {'connected_gene': 'MITD1', 'score': 9.98}, {'connected_gene': 'AFF3', 'score': 5.12}, {'connected_gene': 'LYG1', 'score': 4.24}, {'connected_gene': 'LOC105373504', 'score': 0.09}]