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
ENST00000167588	[[39032192, 39032710], [39033631, 39033669], [39034396, 39034617], [39036064, 39036190], [39036351, 39036513], [39036865, 39037022], [39038823, 39038906], [39041047, 39041479]]	[[39032612, 39032710], [39033631, 39033669], [39034396, 39034617], [39036064, 39036190], [39036351, 39036513], [39036865, 39037022], [39038823, 39038906], [39041047, 39041437]]
ENST00000482529	[[39038714, 39038906], [39041047, 39041162]]	None
NM_019010	[[39032140, 39032710], [39033631, 39033669], [39034396, 39034617], [39036064, 39036190], [39036351, 39036513], [39036865, 39037022], [39038823, 39038906], [39041047, 39041495]]	[[39032612, 39032710], [39033631, 39033669], [39034396, 39034617], [39036064, 39036190], [39036351, 39036513], [39036865, 39037022], [39038823, 39038906], [39041047, 39041437]]

Promoter

Chrom	Start	End	Description
chr17	39041488	39041501	CAGE_peak_1_at_KRT20_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr17	GH17I041338	41338033	41343989	0.96	[{'connected_gene': 'KRT38', 'score': 20.57}, {'connected_gene': 'KRTAP16-1', 'score': 10.63}, {'connected_gene': 'KRTAP29-1', 'score': 10.61}, {'connected_gene': 'KRT31', 'score': 10.3}, {'connected_gene': 'LOC100505782', 'score': 10.28}, {'connected_gene': 'KRTAP17-1', 'score': 10.24}, {'connected_gene': 'KRTAP9-6', 'score': 10.09}, {'connected_gene': 'KRT37', 'score': 10.04}, {'connected_gene': 'ENSG00000234477', 'score': 9.95}, {'connected_gene': 'KRT32', 'score': 9.84}, {'connected_gene': 'RNU2-32P', 'score': 9.84}, {'connected_gene': 'KRTAP1-1', 'score': 9.82}, {'connected_gene': 'KRTAP1-3', 'score': 9.82}, {'connected_gene': 'KRTAP1-4', 'score': 9.81}, {'connected_gene': 'KRT40', 'score': 9.42}, {'connected_gene': 'KRT20', 'score': 9.39}, {'connected_gene': 'KRTAP2-5P', 'score': 9.36}, {'connected_gene': 'KRTAP2-4', 'score': 9.36}, {'connected_gene': 'KRT23', 'score': 8.62}, {'connected_gene': 'KRT36', 'score': 6.02}, {'connected_gene': 'ENSG00000108516', 'score': 0.44}, {'connected_gene': 'KRT33A', 'score': 0.44}]
chr17	GH17I040948	40948885	40960541	1.66	[{'connected_gene': 'KRTAP3-2', 'score': 14.79}, {'connected_gene': 'KRT23', 'score': 14.29}, {'connected_gene': 'KRTAP2-1', 'score': 12.09}, {'connected_gene': 'KRT39', 'score': 11.35}, {'connected_gene': 'KRT40', 'score': 10.72}, {'connected_gene': 'KRTAP2-2', 'score': 10.64}, {'connected_gene': 'ENSG00000234477', 'score': 10.6}, {'connected_gene': 'KRTAP3-3', 'score': 10.48}, {'connected_gene': 'KRTAP1-5', 'score': 10.4}, {'connected_gene': 'KRTAP3-1', 'score': 10.15}, {'connected_gene': 'KRTAP1-4', 'score': 9.98}, {'connected_gene': 'KRTAP2-3', 'score': 9.98}, {'connected_gene': 'KRT20', 'score': 9.83}, {'connected_gene': 'KRTAP4-6', 'score': 9.53}, {'connected_gene': 'LOC100505782', 'score': 9.45}, {'connected_gene': 'KRT19', 'score': 9.43}, {'connected_gene': 'KRT15', 'score': 9.42}, {'connected_gene': 'KRT31', 'score': 9.3}, {'connected_gene': 'KRT34', 'score': 4.8}, {'connected_gene': 'KRTAP9-2', 'score': 1.36}]
chr17	GH17I040857	40857129	40857400	0.99	[{'connected_gene': 'THRA', 'score': 15.83}, {'connected_gene': 'ENSG00000259623', 'score': 12.29}, {'connected_gene': 'KRT20', 'score': 11.23}, {'connected_gene': 'KRT28', 'score': 10.63}, {'connected_gene': 'KRT222', 'score': 10.33}, {'connected_gene': 'KRTAP1-5', 'score': 9.82}, {'connected_gene': 'KRT37', 'score': 9.41}, {'connected_gene': 'KRTAP1-4', 'score': 9.23}, {'connected_gene': 'LOC100505782', 'score': 9.0}, {'connected_gene': 'KRT31', 'score': 9.0}, {'connected_gene': 'GC17P040954', 'score': 0.44}, {'connected_gene': 'ENSG00000265359', 'score': 0.44}, {'connected_gene': 'KRT12', 'score': 0.44}, {'connected_gene': 'LOC105371777', 'score': 0.44}]
chr17	GH17I040886	40886229	40886378	0.52	[{'connected_gene': 'KRT20', 'score': 550.77}, {'connected_gene': 'ENSG00000234477', 'score': 10.61}, {'connected_gene': 'GC17P040941', 'score': 0.77}, {'connected_gene': 'GC17P040955', 'score': 0.29}, {'connected_gene': 'LOC105371777', 'score': 0.28}]
chr17	GH17I040908	40908603	40917347	1.68	[{'connected_gene': 'KRT23', 'score': 18.92}, {'connected_gene': 'KRTAP3-2', 'score': 15.5}, {'connected_gene': 'MSL1', 'score': 11.03}, {'connected_gene': 'KRT20', 'score': 10.7}, {'connected_gene': 'TMEM99', 'score': 10.03}, {'connected_gene': 'KRT37', 'score': 9.73}, {'connected_gene': 'KRT28', 'score': 9.65}, {'connected_gene': 'KRT40', 'score': 9.55}, {'connected_gene': 'LOC100505782', 'score': 9.3}, {'connected_gene': 'KRT31', 'score': 9.29}, {'connected_gene': 'KRT38', 'score': 9.04}, {'connected_gene': 'KRT19', 'score': 4.71}, {'connected_gene': 'KRTAP1-5', 'score': 3.88}, {'connected_gene': 'KRTAP1-1', 'score': 3.26}, {'connected_gene': 'IGFBP4', 'score': 1.73}, {'connected_gene': 'GC17P040955', 'score': 0.44}, {'connected_gene': 'LOC105371777', 'score': 0.21}]
chr17	GH17I040900	40900290	40905306	1.42	[{'connected_gene': 'KRT23', 'score': 14.48}, {'connected_gene': 'SNORD124', 'score': 12.38}, {'connected_gene': 'KRT12', 'score': 10.98}, {'connected_gene': 'TMEM99', 'score': 10.06}, {'connected_gene': 'KRT28', 'score': 9.87}, {'connected_gene': 'KRTAP3-2', 'score': 9.77}, {'connected_gene': 'KRT40', 'score': 9.73}, {'connected_gene': 'KRT37', 'score': 9.68}, {'connected_gene': 'KRT38', 'score': 9.3}, {'connected_gene': 'KRT26', 'score': 9.14}, {'connected_gene': 'KRTAP3-1', 'score': 8.61}, {'connected_gene': 'GC17P040955', 'score': 0.37}, {'connected_gene': 'KRT20', 'score': 0.37}, {'connected_gene': 'LOC105371777', 'score': 0.23}]
chr17	GH17I040858	40857569	40857718	0.43	[{'connected_gene': 'TMEM99', 'score': 16.67}, {'connected_gene': 'KRT20', 'score': 11.23}, {'connected_gene': 'KRT28', 'score': 9.66}, {'connected_gene': 'KRTAP1-4', 'score': 9.23}, {'connected_gene': 'KRT31', 'score': 9.0}, {'connected_gene': 'LOC100505782', 'score': 9.0}, {'connected_gene': 'GC17P040954', 'score': 0.44}, {'connected_gene': 'ENSG00000265359', 'score': 0.44}, {'connected_gene': 'KRT12', 'score': 0.44}, {'connected_gene': 'LOC105371777', 'score': 0.44}]
chr17	GH17I040881	40881521	40886220	1.15	[{'connected_gene': 'GC17P040941', 'score': 550.77}, {'connected_gene': 'KRT20', 'score': 550.77}, {'connected_gene': 'MED24', 'score': 19.49}, {'connected_gene': 'TMEM99', 'score': 17.08}, {'connected_gene': 'KLHL11', 'score': 11.26}, {'connected_gene': 'NT5C3B', 'score': 10.87}, {'connected_gene': 'ENSG00000234477', 'score': 10.61}, {'connected_gene': 'MSL1', 'score': 10.3}, {'connected_gene': 'KLHL10', 'score': 10.26}, {'connected_gene': 'SMARCE1', 'score': 9.75}, {'connected_gene': 'ENSG00000259623', 'score': 9.71}, {'connected_gene': 'LOC105371777', 'score': 0.29}]
chr17	GH17I040896	40896291	40897444	0.2	[{'connected_gene': 'ENSG00000234477', 'score': 11.09}, {'connected_gene': 'KRT12', 'score': 11.02}, {'connected_gene': 'KRT40', 'score': 9.71}, {'connected_gene': 'KRT28', 'score': 9.52}, {'connected_gene': 'TMEM99', 'score': 9.49}, {'connected_gene': 'KRT26', 'score': 9.15}, {'connected_gene': 'KRTAP3-1', 'score': 8.61}, {'connected_gene': 'KRT23', 'score': 7.42}, {'connected_gene': 'GC17P040941', 'score': 0.39}, {'connected_gene': 'KRT20', 'score': 0.39}, {'connected_gene': 'GC17P040955', 'score': 0.34}, {'connected_gene': 'LOC105371777', 'score': 0.25}]
chr17	GH17I040848	40848621	40855486	1.15	[{'connected_gene': 'GC17P040954', 'score': 550.77}, {'connected_gene': 'ENSG00000265359', 'score': 550.77}, {'connected_gene': 'TMEM99', 'score': 32.44}, {'connected_gene': 'KRT20', 'score': 10.9}, {'connected_gene': 'KRT28', 'score': 10.64}, {'connected_gene': 'ENSG00000234477', 'score': 10.0}, {'connected_gene': 'KRT37', 'score': 9.65}, {'connected_gene': 'LOC100505782', 'score': 9.15}, {'connected_gene': 'KRT31', 'score': 9.15}, {'connected_gene': 'MED24', 'score': 6.06}, {'connected_gene': 'LOC105371777', 'score': 0.77}]