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
ENST00000294485	[[11751785, 11751910], [11766305, 11766766], [11769331, 11769522], [11771907, 11772022], [11772396, 11772486], [11775175, 11775265], [11779640, 11785914]]	[[11766315, 11766766], [11769331, 11769522], [11771907, 11772022], [11772396, 11772486], [11775175, 11775265], [11779640, 11779753]]
NM_198545	[[11751780, 11751910], [11766305, 11766766], [11769331, 11769522], [11771907, 11772022], [11772396, 11772486], [11775175, 11775265], [11779640, 11780336]]	[[11766315, 11766766], [11769331, 11769522], [11771907, 11772022], [11772396, 11772486], [11775175, 11775265], [11779640, 11779753]]

Promoter

Chrom	Start	End	Description
chr1	11751529	11751557	CAGE_peak_2_at_C1orf187_5end
chr1	11751748	11751798	CAGE_peak_1_at_C1orf187_5end
chr1	11751799	11751806	CAGE_peak_3_at_C1orf187_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I011738	11738861	11739064	0.83	[{'connected_gene': 'TNFRSF1B', 'score': 14.74}, {'connected_gene': 'MAD2L2', 'score': 12.04}, {'connected_gene': 'DRAXIN', 'score': 12.02}, {'connected_gene': 'C1orf127', 'score': 9.14}, {'connected_gene': 'MTHFR', 'score': 5.44}, {'connected_gene': 'CLCN6', 'score': 5.44}, {'connected_gene': 'FBXO6', 'score': 4.42}, {'connected_gene': 'AGTRAP', 'score': 3.18}, {'connected_gene': 'TNFRSF8', 'score': 2.54}, {'connected_gene': 'MFN2', 'score': 1.81}, {'connected_gene': 'GC01P011758', 'score': 0.37}]
chr1	GH01I011700	11700528	11702104	1.18	[{'connected_gene': 'DISP3', 'score': 16.57}, {'connected_gene': 'DRAXIN', 'score': 6.93}, {'connected_gene': 'MAD2L2', 'score': 2.69}, {'connected_gene': 'FBXO44', 'score': 1.69}, {'connected_gene': 'GC01P011722', 'score': 0.34}]
chr1	GH01I011704	11704364	11704493	0.66	[{'connected_gene': 'AGTRAP', 'score': 12.19}, {'connected_gene': 'FBXO2', 'score': 11.42}, {'connected_gene': 'FBXO44', 'score': 11.4}, {'connected_gene': 'C1orf167', 'score': 11.28}, {'connected_gene': 'LOC102724659', 'score': 11.25}, {'connected_gene': 'C1orf127', 'score': 8.59}, {'connected_gene': 'MAD2L2', 'score': 0.39}, {'connected_gene': 'GC01P011722', 'score': 0.37}, {'connected_gene': 'DRAXIN', 'score': 0.37}]
chr1	GH01I011705	11705966	11707082	0.74	[{'connected_gene': 'AGTRAP', 'score': 16.82}, {'connected_gene': 'MTOR', 'score': 11.49}, {'connected_gene': 'FBXO44', 'score': 11.4}, {'connected_gene': 'FBXO2', 'score': 11.4}, {'connected_gene': 'C1orf167', 'score': 11.28}, {'connected_gene': 'LOC102724659', 'score': 11.26}, {'connected_gene': 'ENSG00000271895', 'score': 10.21}, {'connected_gene': 'EXOSC10', 'score': 9.67}, {'connected_gene': 'C1orf127', 'score': 8.59}, {'connected_gene': 'MAD2L2', 'score': 0.39}, {'connected_gene': 'GC01P011722', 'score': 0.37}, {'connected_gene': 'DRAXIN', 'score': 0.37}]
chr1	GH01I011735	11735202	11738570	2.53	[{'connected_gene': 'AGTRAP', 'score': 570.93}, {'connected_gene': 'TARDBP', 'score': 19.36}, {'connected_gene': 'TNFRSF1B', 'score': 14.62}, {'connected_gene': 'ENSG00000226849', 'score': 12.73}, {'connected_gene': 'MAD2L2', 'score': 12.04}, {'connected_gene': 'DRAXIN', 'score': 12.02}, {'connected_gene': 'EXOSC10', 'score': 11.55}, {'connected_gene': 'C1orf127', 'score': 9.14}, {'connected_gene': 'MTHFR', 'score': 4.68}, {'connected_gene': 'CLCN6', 'score': 4.13}, {'connected_gene': 'TNFRSF8', 'score': 2.69}, {'connected_gene': 'FBXO6', 'score': 2.63}, {'connected_gene': 'MFN2', 'score': 1.62}, {'connected_gene': 'GC01P011758', 'score': 0.37}]
chr1	GH01I011711	11711164	11711313	0.64	[{'connected_gene': 'AGTRAP', 'score': 12.15}, {'connected_gene': 'GC01P011722', 'score': 0.39}, {'connected_gene': 'MAD2L2', 'score': 0.37}, {'connected_gene': 'DRAXIN', 'score': 0.34}]
chr1	GH01I010777	10777916	10781734	1	[{'connected_gene': 'CASZ1', 'score': 13.66}, {'connected_gene': 'DRAXIN', 'score': 9.87}, {'connected_gene': 'GC01P010673', 'score': 0.14}]
chr1	GH01I011707	11707311	11707962	1.06	[{'connected_gene': 'EXOSC10', 'score': 18.13}, {'connected_gene': 'TARDBP', 'score': 15.01}, {'connected_gene': 'AGTRAP', 'score': 12.21}, {'connected_gene': 'ENSG00000226849', 'score': 11.96}, {'connected_gene': 'MTOR', 'score': 11.49}, {'connected_gene': 'FBXO44', 'score': 11.4}, {'connected_gene': 'FBXO2', 'score': 11.4}, {'connected_gene': 'C1orf167', 'score': 11.29}, {'connected_gene': 'LOC102724659', 'score': 11.26}, {'connected_gene': 'MTHFR', 'score': 11.11}, {'connected_gene': 'ENSG00000271895', 'score': 10.21}, {'connected_gene': 'C1orf127', 'score': 8.59}, {'connected_gene': 'DRAXIN', 'score': 5.08}, {'connected_gene': 'GC01P011722', 'score': 0.39}, {'connected_gene': 'MAD2L2', 'score': 0.37}]
chr1	GH01I011332	11332790	11333114	0.23	[{'connected_gene': 'MTOR', 'score': 10.16}, {'connected_gene': 'MTOR-AS1', 'score': 10.05}, {'connected_gene': 'DISP3', 'score': 2.71}, {'connected_gene': 'DRAXIN', 'score': 1.45}, {'connected_gene': 'MAD2L2', 'score': 1.19}, {'connected_gene': 'LOC105376737', 'score': 0.39}, {'connected_gene': 'LOC105376739', 'score': 0.31}]
chr1	GH01I011689	11689322	11694020	2.09	[{'connected_gene': 'MAD2L2', 'score': 557.78}, {'connected_gene': 'DRAXIN', 'score': 550.44}, {'connected_gene': 'FBXO2', 'score': 5.73}, {'connected_gene': 'MTHFR', 'score': 3.1}, {'connected_gene': 'CLCN6', 'score': 2.96}, {'connected_gene': 'TNFRSF1B', 'score': 2.67}]
chr1	GH01I011718	11718540	11720533	1.33	[{'connected_gene': 'MAD2L2', 'score': 12.66}, {'connected_gene': 'DRAXIN', 'score': 12.64}, {'connected_gene': 'GC01P011722', 'score': 0.77}]
chr1	GH01I011680	11680200	11683663	2.22	[{'connected_gene': 'MAD2L2', 'score': 564.27}, {'connected_gene': 'FBXO6', 'score': 8.39}, {'connected_gene': 'DRAXIN', 'score': 0.77}, {'connected_gene': 'PIR43631', 'score': 0.44}]
chr1	GH01I011725	11725401	11725993	1.03	[{'connected_gene': 'GC01P011722', 'score': 0.77}, {'connected_gene': 'AGTRAP', 'score': 0.44}, {'connected_gene': 'DRAXIN', 'score': 0.28}]
chr1	GH01I011676	11676255	11677875	0.65	[{'connected_gene': 'PIR43631', 'score': 550.77}, {'connected_gene': 'FBXO6', 'score': 13.59}, {'connected_gene': 'DRAXIN', 'score': 0.44}, {'connected_gene': 'MAD2L2', 'score': 0.39}]