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
ENST00000367996	[[161154097, 161161354], [161161854, 161162030], [161163002, 161163178], [161163429, 161163616], [161163724, 161164011], [161165254, 161165425], [161165960, 161166093], [161166346, 161166670], [161167784, 161168846]]	[[161160927, 161161354], [161161854, 161162030], [161163002, 161163178], [161163429, 161163616], [161163724, 161164011], [161165254, 161165425], [161165960, 161166093], [161166346, 161166670], [161167784, 161168417]]
ENST00000478394	[[161163951, 161164011], [161165254, 161165541]]	None
ENST00000367995	[[161165768, 161166670], [161167784, 161168843]]	[[161166283, 161166670], [161167784, 161168417]]
NM_005099	[[161159518, 161161354], [161161854, 161162030], [161163002, 161163178], [161163429, 161163616], [161163724, 161164011], [161165254, 161165425], [161165960, 161166093], [161166346, 161166670], [161167784, 161168843]]	[[161160927, 161161354], [161161854, 161162030], [161163002, 161163178], [161163429, 161163616], [161163724, 161164011], [161165254, 161165425], [161165960, 161166093], [161166346, 161166670], [161167784, 161168417]]
NM_001320336	[[161159518, 161161193], [161161854, 161162030], [161163002, 161163178], [161163429, 161163616], [161163724, 161164011], [161165254, 161165425], [161165960, 161166093], [161166346, 161166670], [161167784, 161168843]]	[[161160739, 161161193], [161161854, 161162030], [161163002, 161163178], [161163429, 161163616], [161163724, 161164011], [161165254, 161165425], [161165960, 161166093], [161166346, 161166670], [161167784, 161168417]]

Promoter

Chrom	Start	End	Description
chr1	161168834	161168851	CAGE_peak_1_at_ADAMTS4_5end
chr1	161168923	161168932	CAGE_peak_3_at_ADAMTS4_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I161237	161237614	161239146	1.34	[{'connected_gene': 'NR1I3', 'score': 550.77}, {'connected_gene': 'SDHC', 'score': 11.26}, {'connected_gene': 'MPZ', 'score': 11.13}, {'connected_gene': 'NECTIN4', 'score': 9.34}, {'connected_gene': 'NDUFS2', 'score': 5.8}, {'connected_gene': 'ADAMTS4', 'score': 4.43}, {'connected_gene': 'MIR5187', 'score': 0.39}]
chr1	GH01I161209	161209411	161210247	0.85	[{'connected_gene': 'NR1I3', 'score': 12.38}, {'connected_gene': 'CFAP126', 'score': 11.89}, {'connected_gene': 'SDHC', 'score': 11.12}, {'connected_gene': 'NDUFS2', 'score': 9.14}, {'connected_gene': 'FCER1G', 'score': 0.44}, {'connected_gene': 'ADAMTS4', 'score': 0.39}]
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	GH01I161189	161189251	161189400	0.2	[{'connected_gene': 'B4GALT3', 'score': 27.02}, {'connected_gene': 'ADAMTS4', 'score': 8.62}, {'connected_gene': 'NDUFS2', 'score': 0.44}]
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	GH01I161191	161191280	161192128	0.31	[{'connected_gene': 'TOMM40L', 'score': 7.11}, {'connected_gene': 'NDUFS2', 'score': 0.44}, {'connected_gene': 'ADAMTS4', 'score': 0.44}, {'connected_gene': 'B4GALT3', 'score': 0.39}]
chr1	GH01I161381	161381751	161383896	1.3	[{'connected_gene': 'SDHC', 'score': 35.14}, {'connected_gene': 'NR1I3', 'score': 11.65}, {'connected_gene': 'APOA2', 'score': 11.65}, {'connected_gene': 'TOMM40L', 'score': 11.65}, {'connected_gene': 'ADAMTS4', 'score': 11.6}, {'connected_gene': 'NDUFS2', 'score': 11.6}, {'connected_gene': 'MPZ', 'score': 11.1}, {'connected_gene': 'RRM2P2', 'score': 0.77}, {'connected_gene': 'ENSG00000283696', 'score': 0.37}]
chr1	GH01I161378	161378977	161379441	0.45	[{'connected_gene': 'RRM2P2', 'score': 550.77}, {'connected_gene': 'NDUFS2', 'score': 13.23}, {'connected_gene': 'NR1I3', 'score': 11.65}, {'connected_gene': 'TOMM40L', 'score': 11.65}, {'connected_gene': 'APOA2', 'score': 11.65}, {'connected_gene': 'ADAMTS4', 'score': 11.6}, {'connected_gene': 'SDHC', 'score': 11.18}, {'connected_gene': 'MPZ', 'score': 11.11}, {'connected_gene': 'CFAP126', 'score': 0.39}]
chr1	GH01I161192	161192591	161193000	1.12	[{'connected_gene': 'NDUFS2', 'score': 0.77}, {'connected_gene': 'ADAMTS4', 'score': 0.44}, {'connected_gene': 'B4GALT3', 'score': 0.39}]
chr1	GH01I161193	161193272	161195900	1.09	[{'connected_gene': 'NDUFS2', 'score': 8.84}, {'connected_gene': 'ADAMTS4', 'score': 0.77}, {'connected_gene': 'B4GALT3', 'score': 0.37}]
chr1	GH01I161386	161386592	161386862	0.88	[{'connected_gene': 'NDUFS2', 'score': 11.57}, {'connected_gene': 'ADAMTS4', 'score': 11.57}, {'connected_gene': 'SDHC', 'score': 11.21}, {'connected_gene': 'NR1I3', 'score': 11.01}, {'connected_gene': 'APOA2', 'score': 10.99}, {'connected_gene': 'TOMM40L', 'score': 10.99}, {'connected_gene': 'MPZ', 'score': 10.7}, {'connected_gene': 'FCER1G', 'score': 5.48}, {'connected_gene': 'ATF6', 'score': 2.15}, {'connected_gene': 'FCRLB', 'score': 1.44}, {'connected_gene': 'FCGR2A', 'score': 1.32}, {'connected_gene': 'RRM2P2', 'score': 0.44}, {'connected_gene': 'ENSG00000283696', 'score': 0.39}]
chr1	GH01I161196	161196057	161204083	2.59	[{'connected_gene': 'NDUFS2', 'score': 561.69}, {'connected_gene': 'ADAMTS4', 'score': 560.36}, {'connected_gene': 'DUSP12', 'score': 27.96}, {'connected_gene': 'B4GALT3', 'score': 20.76}, {'connected_gene': 'USP21', 'score': 20.46}, {'connected_gene': 'PPOX', 'score': 19.03}, {'connected_gene': 'LOC100287049', 'score': 12.36}, {'connected_gene': 'DCAF8', 'score': 9.78}, {'connected_gene': 'NIT1', 'score': 7.21}, {'connected_gene': 'TOMM40L', 'score': 6.45}, {'connected_gene': 'PCP4L1', 'score': 2.51}, {'connected_gene': 'FCER1G', 'score': 0.37}]
chr1	GH01I161213	161213952	161220376	1.94	[{'connected_gene': 'FCER1G', 'score': 555.77}, {'connected_gene': 'B4GALT3', 'score': 26.11}, {'connected_gene': 'NDUFS2', 'score': 18.71}, {'connected_gene': 'CFAP126', 'score': 11.41}, {'connected_gene': 'MPZ', 'score': 10.91}, {'connected_gene': 'SDHC', 'score': 10.9}, {'connected_gene': 'DEDD', 'score': 10.42}, {'connected_gene': 'TOMM40L', 'score': 9.6}, {'connected_gene': 'NCSTN', 'score': 4.97}, {'connected_gene': 'ADAMTS4', 'score': 4.51}, {'connected_gene': 'APOA2', 'score': 0.44}]
chr1	GH01I161011	161011352	161023074	2.16	[{'connected_gene': 'DUSP12', 'score': 74.64}, {'connected_gene': 'USP21', 'score': 72.51}, {'connected_gene': 'LOC100287049', 'score': 65.99}, {'connected_gene': 'DEDD', 'score': 42.11}, {'connected_gene': 'PPOX', 'score': 41.65}, {'connected_gene': 'TSTD1', 'score': 33.18}, {'connected_gene': 'LOC148430', 'score': 32.97}, {'connected_gene': 'B4GALT3', 'score': 29.85}, {'connected_gene': 'ARHGAP30', 'score': 24.17}, {'connected_gene': 'KLHDC9', 'score': 22.28}, {'connected_gene': 'DCAF8', 'score': 20.08}, {'connected_gene': 'FCGR2A', 'score': 19.25}, {'connected_gene': 'USF1', 'score': 17.68}, {'connected_gene': 'RPSAP18', 'score': 16.18}, {'connected_gene': 'LOC105371471', 'score': 10.91}, {'connected_gene': 'NECTIN4', 'score': 10.9}, {'connected_gene': 'F11R', 'score': 10.52}, {'connected_gene': 'LY9', 'score': 9.87}, {'connected_gene': 'ITLN1', 'score': 9.71}, {'connected_gene': 'ENSG00000228863', 'score': 9.37}, {'connected_gene': 'ENSG00000232879', 'score': 7.77}, {'connected_gene': 'FCER1G', 'score': 6.31}, {'connected_gene': 'CD244', 'score': 4.98}, {'connected_gene': 'SLAMF7', 'score': 4.61}, {'connected_gene': 'CD48', 'score': 4.18}, {'connected_gene': 'ADAMTS4', 'score': 2.7}, {'connected_gene': 'NDUFS2', 'score': 1.4}, {'connected_gene': 'NR1I3', 'score': 1.24}, {'connected_gene': 'CD84', 'score': 1.13}, {'connected_gene': 'PIR46981', 'score': 0.37}, {'connected_gene': 'GC01M161000', 'score': 0.37}, {'connected_gene': 'ENSG00000270149', 'score': 0.34}]
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}]