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
ENST00000463224	[[105881815, 105881912], [105882722, 105883121]]	None
ENST00000369729	[[105881815, 105881912], [105882722, 105882844], [105883471, 105883882], [105885270, 105886143]]	[[105882748, 105882844], [105883471, 105883882], [105885270, 105885462]]
ENST00000369727	[[105881922, 105881954], [105882722, 105882844], [105883471, 105883882], [105885270, 105886143]]	[[105881941, 105881954], [105882722, 105882844], [105883471, 105883882], [105885270, 105885462]]
ENST00000336358	[[105882004, 105882844], [105883471, 105883882], [105885270, 105885602]]	[[105882523, 105882844], [105883471, 105883882], [105885270, 105885462]]
NM_145247	[[105881815, 105881912], [105882722, 105882844], [105883471, 105883882], [105885270, 105886143]]	[[105882748, 105882844], [105883471, 105883882], [105885270, 105885462]]
NM_001002759	[[105881928, 105881954], [105882722, 105882844], [105883471, 105883882], [105885270, 105886143]]	[[105881941, 105881954], [105882722, 105882844], [105883471, 105883882], [105885270, 105885462]]

Promoter

Chrom	Start	End	Description
chr10	105880871	105880889	CAGE_peak_5_at_SFR1_5end
chr10	105881020	105881051	CAGE_peak_4_at_SFR1_5end
chr10	105881088	105881102	CAGE_peak_10_at_SFR1_5end
chr10	105881177	105881214	CAGE_peak_8_at_SFR1_5end
chr10	105881779	105881814	CAGE_peak_3_at_SFR1_5end
chr10	105881851	105881897	CAGE_peak_2_at_SFR1_5end
chr10	105881906	105881935	CAGE_peak_1_at_SFR1_5end
chr10	105882171	105882189	CAGE_peak_11_at_SFR1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr10	GH10I104345	104345543	104346352	1.09	[{'connected_gene': 'ITPRIP', 'score': 23.75}, {'connected_gene': 'SFR1', 'score': 5.82}, {'connected_gene': 'GSTO1', 'score': 3.94}, {'connected_gene': 'CFAP58', 'score': 3.66}, {'connected_gene': 'CFAP58-AS1', 'score': 0.44}]
chr10	GH10I104316	104316368	104341174	2.81	[{'connected_gene': 'ITPRIP', 'score': 578.89}, {'connected_gene': 'GSTO2', 'score': 20.11}, {'connected_gene': 'PDCD11', 'score': 19.85}, {'connected_gene': 'CFAP58', 'score': 18.41}, {'connected_gene': 'SFR1', 'score': 15.41}, {'connected_gene': 'CFAP58-AS1', 'score': 12.26}, {'connected_gene': 'PCGF6', 'score': 10.39}, {'connected_gene': 'TAF5', 'score': 10.36}, {'connected_gene': 'ENSG00000260461', 'score': 10.23}, {'connected_gene': 'GSTO1', 'score': 9.75}, {'connected_gene': 'SLK', 'score': 3.03}, {'connected_gene': 'LOC101927472', 'score': 0.44}]
chr10	GH10I103958	103958796	103959809	0.2	[{'connected_gene': 'STN1', 'score': 12.21}, {'connected_gene': 'SFR1', 'score': 10.94}, {'connected_gene': 'SLK', 'score': 7.14}, {'connected_gene': 'CALHM2', 'score': 4.68}, {'connected_gene': 'LOC102724351', 'score': 0.44}]
chr10	GH10I104348	104348741	104354232	2.53	[{'connected_gene': 'CFAP58', 'score': 575.17}, {'connected_gene': 'ITPRIP', 'score': 27.03}, {'connected_gene': 'PDCD11', 'score': 11.74}, {'connected_gene': 'ENSG00000260461', 'score': 10.23}, {'connected_gene': 'SFR1', 'score': 4.21}, {'connected_gene': 'GSTO1', 'score': 2.05}, {'connected_gene': 'SLK', 'score': 1.73}, {'connected_gene': 'CFAP58-AS1', 'score': 0.77}]
chr10	GH10I104060	104059383	104059592	0.54	[{'connected_gene': 'COL17A1', 'score': 11.04}, {'connected_gene': 'SFR1', 'score': 10.27}, {'connected_gene': 'SLK', 'score': 9.89}, {'connected_gene': 'MIR936', 'score': 0.39}, {'connected_gene': 'GC10M104086', 'score': 0.31}, {'connected_gene': 'GC10M104085', 'score': 0.31}]
chr10	GH10I104051	104051017	104055681	0.49	[{'connected_gene': 'COL17A1', 'score': 11.33}, {'connected_gene': 'SFR1', 'score': 10.8}, {'connected_gene': 'CFAP43', 'score': 8.51}, {'connected_gene': 'GSTO2', 'score': 6.03}, {'connected_gene': 'MIR936', 'score': 0.44}, {'connected_gene': 'GC10M104086', 'score': 0.29}, {'connected_gene': 'GC10M104085', 'score': 0.29}]
chr10	GH10I104089	104089674	104089971	0.48	[{'connected_gene': 'SFR1', 'score': 59.98}, {'connected_gene': 'GSTO1', 'score': 5.77}, {'connected_gene': 'CFAP58', 'score': 5.6}, {'connected_gene': 'SLK', 'score': 1.78}, {'connected_gene': 'COL17A1', 'score': 0.77}]
chr10	GH10I104293	104293000	104293296	0.95	[{'connected_gene': 'SFR1', 'score': 1.55}, {'connected_gene': 'GSTO1', 'score': 1.39}, {'connected_gene': 'GC10P104302', 'score': 0.44}, {'connected_gene': 'GSTO2', 'score': 0.34}]
chr10	GH10I104123	104123801	104124000	0.52	[{'connected_gene': 'SFR1', 'score': 550.77}, {'connected_gene': 'LOC751602', 'score': 0.29}]
chr10	GH10I104115	104115399	104123672	2.48	[{'connected_gene': 'SFR1', 'score': 550.77}, {'connected_gene': 'PDCD11', 'score': 13.06}, {'connected_gene': 'ENSG00000260461', 'score': 12.01}, {'connected_gene': 'MIR936', 'score': 10.71}, {'connected_gene': 'CFAP43', 'score': 7.6}, {'connected_gene': 'COL17A1', 'score': 0.29}]
chr10	GH10I104032	104032351	104032800	0.4	[{'connected_gene': 'SFR1', 'score': 10.97}, {'connected_gene': 'COL17A1', 'score': 10.2}, {'connected_gene': 'SLK', 'score': 5.83}, {'connected_gene': 'MIR936', 'score': 0.37}, {'connected_gene': 'RN7SL524P', 'score': 0.22}]
chr10	GH10I104109	104109362	104110946	1.45	[{'connected_gene': 'SFR1', 'score': 42.77}, {'connected_gene': 'COL17A1', 'score': 11.61}, {'connected_gene': 'MIR936', 'score': 11.17}, {'connected_gene': 'STN1', 'score': 10.59}, {'connected_gene': 'CFAP43', 'score': 8.04}, {'connected_gene': 'GSTO1', 'score': 6.52}, {'connected_gene': 'CFAP58', 'score': 5.41}, {'connected_gene': 'SLK', 'score': 1.47}]
chr10	GH10I104029	104029563	104029772	0.2	[{'connected_gene': 'SFR1', 'score': 10.96}, {'connected_gene': 'COL17A1', 'score': 10.19}, {'connected_gene': 'MIR936', 'score': 0.37}, {'connected_gene': 'RN7SL524P', 'score': 0.23}]
chr10	GH10I104098	104098763	104100157	0.72	[{'connected_gene': 'SFR1', 'score': 11.55}, {'connected_gene': 'MIR936', 'score': 10.67}, {'connected_gene': 'CFAP43', 'score': 6.43}, {'connected_gene': 'COL17A1', 'score': 0.39}]
chr10	GH10I104258	104258914	104261909	1.46	[{'connected_gene': 'GSTO2', 'score': 35.57}, {'connected_gene': 'GSTO1', 'score': 23.89}, {'connected_gene': 'MIR609', 'score': 10.65}, {'connected_gene': 'SFR1', 'score': 7.72}, {'connected_gene': 'SLK', 'score': 3.56}, {'connected_gene': 'CFAP58', 'score': 3.53}, {'connected_gene': 'ITPRIP', 'score': 1.24}, {'connected_gene': 'GC10M104249', 'score': 0.44}, {'connected_gene': 'MIR4482', 'score': 0.44}]
chr10	GH10I104142	104142203	104142292	0.46	[{'connected_gene': 'MIR936', 'score': 10.33}, {'connected_gene': 'COL17A1', 'score': 10.26}, {'connected_gene': 'LOC751602', 'score': 0.37}, {'connected_gene': 'SFR1', 'score': 0.34}, {'connected_gene': 'CFAP43', 'score': 0.16}]
chr10	GH10I104127	104127563	104127712	0.46	[{'connected_gene': 'MIR936', 'score': 10.84}, {'connected_gene': 'COL17A1', 'score': 10.76}, {'connected_gene': 'MIR609', 'score': 10.07}, {'connected_gene': 'SFR1', 'score': 0.44}, {'connected_gene': 'LOC751602', 'score': 0.31}]
chr10	GH10I104092	104092261	104094759	1.12	[{'connected_gene': 'MIR936', 'score': 11.49}, {'connected_gene': 'SFR1', 'score': 11.07}, {'connected_gene': 'CFAP43', 'score': 6.41}, {'connected_gene': 'COL17A1', 'score': 0.44}]
chr10	GH10I103887	103887370	103891592	1.61	[{'connected_gene': 'GC10M103885', 'score': 550.77}, {'connected_gene': 'SLK', 'score': 17.77}, {'connected_gene': 'SH3PXD2A', 'score': 11.47}, {'connected_gene': 'MIR936', 'score': 10.68}, {'connected_gene': 'ENSG00000260461', 'score': 10.08}, {'connected_gene': 'STN1', 'score': 5.01}, {'connected_gene': 'COL17A1', 'score': 2.44}, {'connected_gene': 'SFR1', 'score': 2.24}, {'connected_gene': 'GSTO2', 'score': 2.21}, {'connected_gene': 'GSTO1', 'score': 1.33}, {'connected_gene': 'PIR55313', 'score': 0.44}, {'connected_gene': 'GC10M103884', 'score': 0.44}]
chr10	GH10I103691	103691402	103691832	1.29	[{'connected_gene': 'ENSG00000260461', 'score': 19.79}, {'connected_gene': 'PCGF6', 'score': 18.95}, {'connected_gene': 'SFR1', 'score': 12.58}, {'connected_gene': 'SLK', 'score': 12.14}, {'connected_gene': 'SH3PXD2A', 'score': 11.06}, {'connected_gene': 'NEURL1', 'score': 10.15}, {'connected_gene': 'NEURL1-AS1', 'score': 9.95}, {'connected_gene': 'INA', 'score': 1.62}, {'connected_gene': 'ENSG00000222503', 'score': 0.37}, {'connected_gene': 'GC10M103742', 'score': 0.23}]
chr10	GH10I103692	103691981	103693499	1.84	[{'connected_gene': 'ENSG00000260461', 'score': 31.35}, {'connected_gene': 'SFR1', 'score': 12.58}, {'connected_gene': 'SLK', 'score': 12.14}, {'connected_gene': 'PDCD11', 'score': 11.85}, {'connected_gene': 'CALHM2', 'score': 10.52}, {'connected_gene': 'PCGF6', 'score': 9.8}, {'connected_gene': 'STN1', 'score': 4.17}, {'connected_gene': 'AS3MT', 'score': 4.15}, {'connected_gene': 'ENSG00000222503', 'score': 0.37}, {'connected_gene': 'GC10M103742', 'score': 0.25}, {'connected_gene': 'SH3PXD2A', 'score': 0.1}]