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
ENST00000360093	[[165944031, 165947855], [165948763, 165949034], [165950883, 165950988], [165952020, 165952158], [165952976, 165953030], [165953761, 165954034], [165956811, 165956934], [165969394, 165969568], [165970325, 165970480], [165971964, 165972085], [165984140, 165984611], [165986449, 165986806], [165987753, 165987927], [165994388, 165994627], [165995985, 165996118], [165997160, 165997508], [166003248, 166003539], [166010961, 166011168], [166012271, 166012413], [166018817, 166018881], [166019065, 166019338], [166020311, 166020403], [166020901, 166021030], [166025245, 166025335], [166026939, 166027058], [166032640, 166032954], [166043060, 166043257], [166060332, 166060577]]	[[165946659, 165947855], [165948763, 165949034], [165950883, 165950988], [165952020, 165952158], [165952976, 165953030], [165953761, 165954034], [165956811, 165956934], [165969394, 165969568], [165970325, 165970480], [165971964, 165972085], [165984140, 165984611], [165986449, 165986806], [165987753, 165987927], [165994388, 165994627], [165995985, 165996118], [165997160, 165997508], [166003248, 166003539], [166010961, 166011168], [166012271, 166012413], [166018817, 166018881], [166019065, 166019338], [166020311, 166020403], [166020901, 166021030], [166025245, 166025335], [166026939, 166027058], [166032640, 166032904]]
ENST00000283254	[[165944039, 165947855], [165948763, 165949034], [165950883, 165950988], [165952020, 165952158], [165952976, 165953030], [165953761, 165954034], [165956811, 165956934], [165969394, 165969568], [165970325, 165970480], [165971964, 165972085], [165984140, 165984611], [165986449, 165986806], [165987753, 165987927], [165994388, 165994627], [165995985, 165996118], [165997160, 165997508], [166003248, 166003539], [166010961, 166011168], [166012271, 166012413], [166018817, 166018881], [166019065, 166019338], [166020127, 166020219], [166020901, 166021030], [166025245, 166025335], [166026939, 166027058], [166032640, 166032954], [166043060, 166043257], [166060332, 166060553]]	[[165946659, 165947855], [165948763, 165949034], [165950883, 165950988], [165952020, 165952158], [165952976, 165953030], [165953761, 165954034], [165956811, 165956934], [165969394, 165969568], [165970325, 165970480], [165971964, 165972085], [165984140, 165984611], [165986449, 165986806], [165987753, 165987927], [165994388, 165994627], [165995985, 165996118], [165997160, 165997508], [166003248, 166003539], [166010961, 166011168], [166012271, 166012413], [166018817, 166018881], [166019065, 166019338], [166020127, 166020219], [166020901, 166021030], [166025245, 166025335], [166026939, 166027058], [166032640, 166032904]]
ENST00000409101	[[165946227, 165947855], [165948763, 165949034], [165950883, 165950988], [165952020, 165952158], [165952976, 165953030], [165953761, 165954034], [165956811, 165956934], [165969394, 165969568], [165970325, 165970480], [165971964, 165972085], [165984140, 165984611], [165986449, 165986806], [165987753, 165987927], [165994388, 165994627], [165995985, 165996118], [165997307, 165997508], [166003248, 166003539], [166010961, 166011168], [166012271, 166012413], [166018817, 166018881], [166019065, 166019338], [166020311, 166020403], [166020901, 166021030], [166025245, 166025335], [166026939, 166027058], [166032640, 166032954], [166043060, 166043257], [166060332, 166060396]]	[[165946659, 165947855], [165948763, 165949034], [165950883, 165950988], [165952020, 165952158], [165952976, 165953030], [165953761, 165954034], [165956811, 165956934], [165969394, 165969568], [165970325, 165970480], [165971964, 165972085], [165984140, 165984611], [165986449, 165986806], [165987753, 165987927], [165994388, 165994627], [165995985, 165996118], [165997307, 165997508], [166003248, 166003539], [166010961, 166011168], [166012271, 166012413], [166018817, 166018881], [166019065, 166019338], [166020311, 166020403], [166020901, 166021030], [166025245, 166025335], [166026939, 166027058], [166032640, 166032904]]
ENST00000540861	[[165946480, 165947855], [165948763, 165949034], [165950076, 165950338]]	[[165946659, 165947855], [165948763, 165949019]]
ENST00000465043	[[165948765, 165949034], [165950076, 165950338]]	None
ENST00000471697	[[165952020, 165952158], [165952976, 165953030], [165953761, 165954124]]	None
ENST00000440431	[[165953761, 165954034], [165956811, 165956934], [165969394, 165969568], [165970325, 165970480], [165971964, 165972085], [165984140, 165984611], [165986449, 165986806], [165987753, 165987927], [165994388, 165994627], [165995985, 165996118], [165997307, 165997508], [166003248, 166003539], [166010961, 166011168], [166012271, 166012413], [166018817, 166018881], [166019065, 166019338], [166020127, 166020219], [166020901, 166021030], [166025245, 166025335], [166026939, 166027058], [166032640, 166032954], [166043060, 166043064]]	[[165953761, 165954034], [165956811, 165956934], [165969394, 165969568], [165970325, 165970480], [165971964, 165972085], [165984140, 165984611], [165986449, 165986806], [165987753, 165987927], [165994388, 165994627], [165995985, 165996118], [165997307, 165997508], [166003248, 166003539], [166010961, 166011168], [166012271, 166012413], [166018817, 166018881], [166019065, 166019338], [166020127, 166020219], [166020901, 166021030], [166025245, 166025335], [166026939, 166027058], [166032640, 166032904]]
ENST00000484898	[[165979309, 165979409], [165984140, 165984302]]	None
ENST00000453007	[[166020902, 166021030], [166025245, 166025335], [166026939, 166027058], [166032640, 166032954], [166036061, 166036201], [166043060, 166043257], [166060332, 166060560]]	[[166020902, 166021030], [166025245, 166025335], [166026939, 166027058], [166032640, 166032904]]
NM_001081677	[[165944029, 165947855], [165948763, 165949034], [165950883, 165950988], [165952020, 165952158], [165952976, 165953030], [165953761, 165954034], [165956811, 165956934], [165969394, 165969568], [165970325, 165970480], [165971964, 165972085], [165984140, 165984611], [165986449, 165986806], [165987753, 165987927], [165994388, 165994627], [165995985, 165996118], [165997307, 165997508], [166003248, 166003539], [166010961, 166011168], [166012271, 166012413], [166018817, 166018881], [166019065, 166019338], [166020311, 166020403], [166020901, 166021030], [166025245, 166025335], [166026939, 166027058], [166032640, 166032954], [166043060, 166043257], [166060332, 166060577]]	[[165946659, 165947855], [165948763, 165949034], [165950883, 165950988], [165952020, 165952158], [165952976, 165953030], [165953761, 165954034], [165956811, 165956934], [165969394, 165969568], [165970325, 165970480], [165971964, 165972085], [165984140, 165984611], [165986449, 165986806], [165987753, 165987927], [165994388, 165994627], [165995985, 165996118], [165997307, 165997508], [166003248, 166003539], [166010961, 166011168], [166012271, 166012413], [166018817, 166018881], [166019065, 166019338], [166020311, 166020403], [166020901, 166021030], [166025245, 166025335], [166026939, 166027058], [166032640, 166032904]]
NM_006922	[[165944029, 165947855], [165948763, 165949034], [165950883, 165950988], [165952020, 165952158], [165952976, 165953030], [165953761, 165954034], [165956811, 165956934], [165969394, 165969568], [165970325, 165970480], [165971964, 165972085], [165984140, 165984611], [165986449, 165986806], [165987753, 165987927], [165994388, 165994627], [165995985, 165996118], [165997160, 165997508], [166003248, 166003539], [166010961, 166011168], [166012271, 166012413], [166018817, 166018881], [166019065, 166019338], [166020127, 166020219], [166020901, 166021030], [166025245, 166025335], [166026939, 166027058], [166032640, 166032954], [166043060, 166043257], [166060332, 166060577]]	[[165946659, 165947855], [165948763, 165949034], [165950883, 165950988], [165952020, 165952158], [165952976, 165953030], [165953761, 165954034], [165956811, 165956934], [165969394, 165969568], [165970325, 165970480], [165971964, 165972085], [165984140, 165984611], [165986449, 165986806], [165987753, 165987927], [165994388, 165994627], [165995985, 165996118], [165997160, 165997508], [166003248, 166003539], [166010961, 166011168], [166012271, 166012413], [166018817, 166018881], [166019065, 166019338], [166020127, 166020219], [166020901, 166021030], [166025245, 166025335], [166026939, 166027058], [166032640, 166032904]]
NM_001081676	[[165944029, 165947855], [165948763, 165949034], [165950883, 165950988], [165952020, 165952158], [165952976, 165953030], [165953761, 165954034], [165956811, 165956934], [165969394, 165969568], [165970325, 165970480], [165971964, 165972085], [165984140, 165984611], [165986449, 165986806], [165987753, 165987927], [165994388, 165994627], [165995985, 165996118], [165997307, 165997508], [166003248, 166003539], [166010961, 166011168], [166012271, 166012413], [166018817, 166018881], [166019065, 166019338], [166020127, 166020219], [166020901, 166021030], [166025245, 166025335], [166026939, 166027058], [166032640, 166032954], [166043060, 166043257], [166060332, 166060577]]	[[165946659, 165947855], [165948763, 165949034], [165950883, 165950988], [165952020, 165952158], [165952976, 165953030], [165953761, 165954034], [165956811, 165956934], [165969394, 165969568], [165970325, 165970480], [165971964, 165972085], [165984140, 165984611], [165986449, 165986806], [165987753, 165987927], [165994388, 165994627], [165995985, 165996118], [165997307, 165997508], [166003248, 166003539], [166010961, 166011168], [166012271, 166012413], [166018817, 166018881], [166019065, 166019338], [166020127, 166020219], [166020901, 166021030], [166025245, 166025335], [166026939, 166027058], [166032640, 166032904]]

Promoter

Chrom	Start	End	Description
chr2	166060382	166060411	CAGE_peak_4_at_SCN3A_5end
chr2	166060552	166060566	CAGE_peak_1_at_SCN3A_5end
chr2	166060571	166060582	CAGE_peak_2_at_SCN3A_5end
chr2	166060586	166060603	CAGE_peak_3_at_SCN3A_5end
chr2	166060606	166060607	CAGE_peak_6_at_SCN3A_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr2	GH02I165606	165606415	165606580	0.23	[{'connected_gene': 'CSRNP3', 'score': 7.92}, {'connected_gene': 'SCN3A', 'score': 3.7}, {'connected_gene': 'TTC21B', 'score': 1.39}, {'connected_gene': 'SCN2A', 'score': 1.34}, {'connected_gene': 'GC02P165687', 'score': 0.18}]
chr2	GH02I165067	165067941	165068800	1.26	[{'connected_gene': 'SCN3A', 'score': 9.61}, {'connected_gene': 'CSRNP3', 'score': 2.52}, {'connected_gene': 'SCN2A', 'score': 1.39}, {'connected_gene': 'GC02M165092', 'score': 0.34}, {'connected_gene': 'SLC38A11', 'score': 0.14}, {'connected_gene': 'ENSG00000236283', 'score': 0.07}]
chr2	GH02I165053	165053939	165061193	0.6	[{'connected_gene': 'SCN3A', 'score': 7.46}, {'connected_gene': 'SCN2A', 'score': 5.34}, {'connected_gene': 'ENSG00000235192', 'score': 4.72}, {'connected_gene': 'GC02M165092', 'score': 0.29}, {'connected_gene': 'SLC38A11', 'score': 0.15}, {'connected_gene': 'ENSG00000236283', 'score': 0.08}]
chr2	GH02I165196	165196524	165196583	0.5	[{'connected_gene': 'SCN3A', 'score': 550.44}, {'connected_gene': 'SCN2A', 'score': 10.05}, {'connected_gene': 'GC02M165149', 'score': 0.25}, {'connected_gene': 'ENSG00000236283', 'score': 0.05}]
chr2	GH02I165204	165204031	165204180	1.14	[{'connected_gene': 'SCN3A', 'score': 550.77}, {'connected_gene': 'GC02M165204', 'score': 550.77}, {'connected_gene': 'GC02M165203', 'score': 550.77}, {'connected_gene': 'SCN2A', 'score': 0.19}, {'connected_gene': 'GC02P165275', 'score': 0.19}, {'connected_gene': 'GC02P165274', 'score': 0.19}, {'connected_gene': 'ENSG00000236283', 'score': 0.05}]
chr2	GH02I165203	165203801	165204000	1.1	[{'connected_gene': 'SCN3A', 'score': 550.77}, {'connected_gene': 'GC02M165204', 'score': 550.77}, {'connected_gene': 'GC02M165203', 'score': 550.77}, {'connected_gene': 'GC02M165149', 'score': 0.23}, {'connected_gene': 'SCN2A', 'score': 0.19}, {'connected_gene': 'ENSG00000236283', 'score': 0.05}]
chr2	GH02I165016	165016724	165017106	0.62	[{'connected_gene': 'SCN3A', 'score': 11.13}, {'connected_gene': 'SLC38A11', 'score': 0.21}, {'connected_gene': 'GC02M165092', 'score': 0.18}, {'connected_gene': 'ENSG00000236283', 'score': 0.1}]
chr2	GH02I165061	165061462	165062088	0.31	[{'connected_gene': 'SCN3A', 'score': 7.31}, {'connected_gene': 'GC02M165092', 'score': 0.29}, {'connected_gene': 'SLC38A11', 'score': 0.14}, {'connected_gene': 'ENSG00000236283', 'score': 0.07}]
chr2	GH02I165384	165384046	165384116	0.22	[{'connected_gene': 'SCN2A', 'score': 3.86}, {'connected_gene': 'CSRNP3', 'score': 1.8}, {'connected_gene': 'SCN3A', 'score': 1.76}, {'connected_gene': 'GC02P165391', 'score': 0.44}, {'connected_gene': 'GC02M165331', 'score': 0.23}]
chr2	GH02I165239	165239324	165241479	1.12	[{'connected_gene': 'SCN2A', 'score': 550.14}, {'connected_gene': 'SCN3A', 'score': 10.77}, {'connected_gene': 'GC02P165275', 'score': 0.29}, {'connected_gene': 'GC02P165274', 'score': 0.29}, {'connected_gene': 'GC02M165204', 'score': 0.28}, {'connected_gene': 'GC02M165203', 'score': 0.28}]
chr2	GH02I165340	165340037	165340258	0.22	[{'connected_gene': 'SCN2A', 'score': 1.5}, {'connected_gene': 'SCN3A', 'score': 1.3}, {'connected_gene': 'GC02M165331', 'score': 0.44}, {'connected_gene': 'GC02P165391', 'score': 0.23}]
chr2	GH02I166131	166131725	166137897	0.93	[{'connected_gene': 'LOC101929680', 'score': 11.49}, {'connected_gene': 'LOC102724058', 'score': 11.49}, {'connected_gene': 'GALNT3', 'score': 5.98}, {'connected_gene': 'SCN3A', 'score': 4.65}, {'connected_gene': 'GC02M166126', 'score': 0.44}, {'connected_gene': 'GC02M166127', 'score': 0.44}, {'connected_gene': 'GC02M166148', 'score': 0.39}, {'connected_gene': 'GC02M166154', 'score': 0.39}, {'connected_gene': 'SCN1A', 'score': 0.39}]