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
ENST00000309758	[[161494035, 161496681]]	[[161494448, 161496380]]
NM_002155	[[161494329, 161496687]]	[[161494448, 161496380]]

Promoter

Chrom	Start	End	Description
chr1	161494328	161494332	CAGE_peak_1_at_HSPA6_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I161181	161181277	161188841	1.55	[{'connected_gene': 'B4GALT3', 'score': 12.21}, {'connected_gene': 'ADAMTS4', 'score': 8.6}, {'connected_gene': 'SLAMF7', 'score': 7.4}, {'connected_gene': 'PPOX', 'score': 6.88}, {'connected_gene': 'NIT1', 'score': 6.84}, {'connected_gene': 'FCER1G', 'score': 4.69}, {'connected_gene': 'CD48', 'score': 3.93}, {'connected_gene': 'ARHGAP30', 'score': 3.86}, {'connected_gene': 'CD244', 'score': 2.86}, {'connected_gene': 'FCGR3A', 'score': 2.69}, {'connected_gene': 'HSPA6', 'score': 1.82}, {'connected_gene': 'USF1', 'score': 1.7}, {'connected_gene': 'FCGR2A', 'score': 1.59}, {'connected_gene': 'LY9', 'score': 1.15}, {'connected_gene': 'NDUFS2', 'score': 0.39}]
chr1	GH01I161206	161206185	161208300	0.89	[{'connected_gene': 'B4GALT3', 'score': 21.32}, {'connected_gene': 'PPOX', 'score': 13.1}, {'connected_gene': 'NR1I3', 'score': 11.78}, {'connected_gene': 'SDHC', 'score': 10.75}, {'connected_gene': 'MPZ', 'score': 10.6}, {'connected_gene': 'LOC105371471', 'score': 9.73}, {'connected_gene': 'NDUFS2', 'score': 7.55}, {'connected_gene': 'TOMM40L', 'score': 6.16}, {'connected_gene': 'ADAMTS4', 'score': 3.78}, {'connected_gene': 'APOA2', 'score': 3.43}, {'connected_gene': 'HSPA6', 'score': 2.42}, {'connected_gene': 'FCER1G', 'score': 0.44}]
chr1	GH01I161738	161738404	161741879	1.59	[{'connected_gene': 'FCRLA', 'score': 16.05}, {'connected_gene': 'FCGR2A', 'score': 15.63}, {'connected_gene': 'DUSP12', 'score': 5.37}, {'connected_gene': 'ATF6', 'score': 5.18}, {'connected_gene': 'HSPA6', 'score': 3.07}, {'connected_gene': 'FCGR3A', 'score': 1.2}, {'connected_gene': 'RN7SL466P', 'score': 0.77}]
chr1	GH01I161388	161388670	161391200	1.83	[{'connected_gene': 'SDHC', 'score': 39.19}, {'connected_gene': 'USP21', 'score': 16.48}, {'connected_gene': 'PPOX', 'score': 16.16}, {'connected_gene': 'DUSP12', 'score': 14.89}, {'connected_gene': 'ATF6', 'score': 14.1}, {'connected_gene': 'CFAP126', 'score': 12.1}, {'connected_gene': 'NR1I3', 'score': 11.25}, {'connected_gene': 'APOA2', 'score': 11.24}, {'connected_gene': 'TOMM40L', 'score': 11.24}, {'connected_gene': 'DEDD', 'score': 11.05}, {'connected_gene': 'MPZ', 'score': 10.55}, {'connected_gene': 'B4GALT3', 'score': 10.42}, {'connected_gene': 'FCRLA', 'score': 9.41}, {'connected_gene': 'FCER1G', 'score': 8.57}, {'connected_gene': 'FCGR2A', 'score': 3.42}, {'connected_gene': 'ARHGAP30', 'score': 2.23}, {'connected_gene': 'HSPA6', 'score': 1.59}, {'connected_gene': 'ENSG00000283696', 'score': 0.44}, {'connected_gene': 'RRM2P2', 'score': 0.39}]
chr1	GH01I161113	161113988	161122541	2.5	[{'connected_gene': 'NIT1', 'score': 560.03}, {'connected_gene': 'PFDN2', 'score': 550.77}, {'connected_gene': 'PIR38070', 'score': 550.77}, {'connected_gene': 'RPSAP18', 'score': 14.02}, {'connected_gene': 'DUSP12', 'score': 11.42}, {'connected_gene': 'B4GALT3', 'score': 10.1}, {'connected_gene': 'OLFML2B', 'score': 9.68}, {'connected_gene': 'F11R', 'score': 8.7}, {'connected_gene': 'HSPA6', 'score': 5.79}, {'connected_gene': 'PIR41247', 'score': 0.77}, {'connected_gene': 'PIR51486', 'score': 0.77}, {'connected_gene': 'DEDD', 'score': 0.39}]
chr1	GH01I161499	161499401	161500000	0.97	[{'connected_gene': 'FCER1G', 'score': 5.78}, {'connected_gene': 'ATF6', 'score': 5.6}, {'connected_gene': 'HSPA6', 'score': 5.14}, {'connected_gene': 'FCGR2A', 'score': 3.19}, {'connected_gene': 'LOC105371473', 'score': 0.39}]
chr1	GH01I161736	161736156	161737018	1.27	[{'connected_gene': 'RN7SL466P', 'score': 550.77}, {'connected_gene': 'FCRLB', 'score': 13.78}, {'connected_gene': 'ENSG00000272574', 'score': 12.95}, {'connected_gene': 'DDR2', 'score': 12.53}, {'connected_gene': 'FCRLA', 'score': 12.07}, {'connected_gene': 'FCGR2A', 'score': 10.97}, {'connected_gene': 'FCGR2B', 'score': 6.16}, {'connected_gene': 'DUSP12', 'score': 5.44}, {'connected_gene': 'ATF6', 'score': 2.63}, {'connected_gene': 'HSPA6', 'score': 1.26}]
chr1	GH01I161420	161420801	161421400	0.89	[{'connected_gene': 'TRE-TTC4-2', 'score': 550.77}, {'connected_gene': 'HSPA6', 'score': 4.84}, {'connected_gene': 'LOC102724602', 'score': 0.77}, {'connected_gene': 'ENSG00000283696', 'score': 0.34}, {'connected_gene': 'TRD-GTC2-5', 'score': 0.25}]
chr1	GH01I161421	161421551	161422599	1.24	[{'connected_gene': 'TRE-TTC4-2', 'score': 550.77}, {'connected_gene': 'DUSP12', 'score': 35.23}, {'connected_gene': 'USP21', 'score': 34.83}, {'connected_gene': 'B4GALT3', 'score': 11.96}, {'connected_gene': 'PPOX', 'score': 11.56}, {'connected_gene': 'ATF6', 'score': 10.4}, {'connected_gene': 'DEDD', 'score': 9.8}, {'connected_gene': 'HSPA6', 'score': 5.94}, {'connected_gene': 'HSPA7', 'score': 4.8}, {'connected_gene': 'LOC102724602', 'score': 0.77}, {'connected_gene': 'ENSG00000283696', 'score': 0.34}, {'connected_gene': 'TRD-GTC2-5', 'score': 0.25}]
chr1	GH01I161523	161523371	161525201	2.18	[{'connected_gene': 'TRG-GCC2-1', 'score': 550.77}, {'connected_gene': 'HSPA6', 'score': 550.77}, {'connected_gene': 'TRD-GTC10-1', 'score': 550.77}, {'connected_gene': 'PIR56644', 'score': 550.77}, {'connected_gene': 'USP21', 'score': 28.72}, {'connected_gene': 'DUSP12', 'score': 28.63}, {'connected_gene': 'RPS23P10', 'score': 14.48}, {'connected_gene': 'FCGR2C', 'score': 14.23}, {'connected_gene': 'B4GALT3', 'score': 10.67}, {'connected_gene': 'PPOX', 'score': 10.59}, {'connected_gene': 'LOC148430', 'score': 10.5}, {'connected_gene': 'FCGR3B', 'score': 8.43}, {'connected_gene': 'ENSG00000273112', 'score': 0.39}, {'connected_gene': 'FCGR2A', 'score': 0.37}]
chr1	GH01I161528	161528801	161533518	1.79	[{'connected_gene': 'TRL-CAG1-6', 'score': 550.77}, {'connected_gene': 'TRG-TCC2-6', 'score': 550.77}, {'connected_gene': 'DUSP12', 'score': 26.62}, {'connected_gene': 'USP21', 'score': 23.93}, {'connected_gene': 'FCGR2C', 'score': 20.97}, {'connected_gene': 'FCGR2A', 'score': 16.51}, {'connected_gene': 'PPOX', 'score': 13.32}, {'connected_gene': 'FCRLA', 'score': 11.16}, {'connected_gene': 'FCGR2B', 'score': 9.25}, {'connected_gene': 'HSPA6', 'score': 8.4}, {'connected_gene': 'FCGR3B', 'score': 7.81}, {'connected_gene': 'RPS23P10', 'score': 7.43}, {'connected_gene': 'ARHGAP30', 'score': 6.5}, {'connected_gene': 'FCGR3A', 'score': 5.19}, {'connected_gene': 'USF1', 'score': 3.75}, {'connected_gene': 'FCER1G', 'score': 3.01}, {'connected_gene': 'ATF6', 'score': 2.48}, {'connected_gene': 'OLFML2B', 'score': 2.06}, {'connected_gene': 'ADAMTS4', 'score': 1.95}, {'connected_gene': 'CFAP126', 'score': 1.43}, {'connected_gene': 'PCP4L1', 'score': 1.28}, {'connected_gene': 'ENSG00000273112', 'score': 0.37}]
chr1	GH01I161611	161611001	161613600	1.75	[{'connected_gene': 'GC01P161612', 'score': 550.77}, {'connected_gene': 'TRL-CAA6-1', 'score': 550.77}, {'connected_gene': 'GC01P161613', 'score': 550.77}, {'connected_gene': 'USP21', 'score': 32.35}, {'connected_gene': 'FCGR2B', 'score': 27.68}, {'connected_gene': 'DUSP12', 'score': 26.66}, {'connected_gene': 'FCGR2C', 'score': 16.95}, {'connected_gene': 'PPOX', 'score': 13.31}, {'connected_gene': 'FCGR3B', 'score': 12.99}, {'connected_gene': 'ATF6', 'score': 12.15}, {'connected_gene': 'B4GALT3', 'score': 11.46}, {'connected_gene': 'DEDD', 'score': 10.41}, {'connected_gene': 'HSPA6', 'score': 6.42}, {'connected_gene': 'HSPA7', 'score': 5.54}, {'connected_gene': 'FCRLB', 'score': 4.64}, {'connected_gene': 'FCGR3A', 'score': 1.67}]