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
ENST00000379416	[[31557186, 31558874], [31560506, 31560683], [31562354, 31562543], [31564194, 31564260], [31565048, 31565163], [31567549, 31567602], [31569634, 31569709], [31570387, 31570516], [31571133, 31571229], [31571764, 31571846], [31572551, 31572697], [31572897, 31573089], [31587023, 31587110], [31588322, 31588410], [31588841, 31588975], [31589735, 31589860], [31590826, 31590923], [31591406, 31591526], [31593220, 31593344], [31595093, 31595263], [31596738, 31596822], [31598245, 31598420], [31599918, 31600103], [31602732, 31602842], [31604498, 31604592], [31605866, 31606018], [31606620, 31606713], [31609279, 31609421], [31610676, 31610763], [31611092, 31611161], [31620533, 31620595], [31621438, 31621565], [31624085, 31624194], [31625913, 31626010], [31628772, 31628830], [31637490, 31637581]]	[[31558823, 31558874], [31560506, 31560683], [31562354, 31562543], [31564194, 31564260], [31565048, 31565163], [31567549, 31567602], [31569634, 31569709], [31570387, 31570516], [31571133, 31571229], [31571764, 31571846], [31572551, 31572697], [31572897, 31573089], [31587023, 31587110], [31588322, 31588410], [31588841, 31588975], [31589735, 31589860], [31590826, 31590923], [31591406, 31591526], [31593220, 31593344], [31595093, 31595263], [31596738, 31596822], [31598245, 31598420], [31599918, 31600103], [31602732, 31602842], [31604498, 31604592], [31605866, 31606018], [31606620, 31606713], [31609279, 31609421], [31610676, 31610763], [31611092, 31611161], [31620533, 31620595], [31621438, 31621565], [31624085, 31624194], [31625913, 31626010], [31628772, 31628830], [31637490, 31637532]]
ENST00000491727	[[31605866, 31606018], [31606620, 31606713], [31609279, 31609421], [31610676, 31610763], [31611092, 31611161], [31612461, 31612499]]	None
ENST00000476043	[[31605947, 31606018], [31606620, 31606713], [31606950, 31607261]]	None
NM_000379	[[31557187, 31558874], [31560506, 31560683], [31562354, 31562543], [31564194, 31564260], [31565048, 31565163], [31567549, 31567602], [31569634, 31569709], [31570387, 31570516], [31571133, 31571229], [31571764, 31571846], [31572551, 31572697], [31572897, 31573089], [31587023, 31587110], [31588322, 31588410], [31588841, 31588975], [31589735, 31589860], [31590826, 31590923], [31591406, 31591526], [31593220, 31593344], [31595093, 31595263], [31596738, 31596822], [31598245, 31598420], [31599918, 31600103], [31602732, 31602842], [31604498, 31604592], [31605866, 31606018], [31606620, 31606713], [31609279, 31609421], [31610676, 31610763], [31611092, 31611161], [31620533, 31620595], [31621438, 31621565], [31624085, 31624194], [31625913, 31626010], [31628772, 31628830], [31637490, 31637611]]	[[31558823, 31558874], [31560506, 31560683], [31562354, 31562543], [31564194, 31564260], [31565048, 31565163], [31567549, 31567602], [31569634, 31569709], [31570387, 31570516], [31571133, 31571229], [31571764, 31571846], [31572551, 31572697], [31572897, 31573089], [31587023, 31587110], [31588322, 31588410], [31588841, 31588975], [31589735, 31589860], [31590826, 31590923], [31591406, 31591526], [31593220, 31593344], [31595093, 31595263], [31596738, 31596822], [31598245, 31598420], [31599918, 31600103], [31602732, 31602842], [31604498, 31604592], [31605866, 31606018], [31606620, 31606713], [31609279, 31609421], [31610676, 31610763], [31611092, 31611161], [31620533, 31620595], [31621438, 31621565], [31624085, 31624194], [31625913, 31626010], [31628772, 31628830], [31637490, 31637532]]

Promoter

Chrom	Start	End	Description
chr2	31607343	31607364	CAGE_peak_2_at_XDH_5end
chr2	31607381	31607392	CAGE_peak_4_at_XDH_5end
chr2	31607681	31607710	CAGE_peak_3_at_XDH_5end
chr2	31637560	31637614	CAGE_peak_1_at_XDH_5end
chr2	31637816	31637836	CAGE_peak_7_at_XDH_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr2	GH02I031446	31446506	31447520	0.2	[{'connected_gene': 'DPY30', 'score': 7.44}, {'connected_gene': 'XDH', 'score': 6.22}, {'connected_gene': 'GC02P031438', 'score': 0.44}, {'connected_gene': 'ENSG00000228563', 'score': 0.18}]
chr2	GH02I032072	32072795	32075214	0.54	[{'connected_gene': 'DPY30', 'score': 12.0}, {'connected_gene': 'MEMO1', 'score': 10.93}, {'connected_gene': 'SLC30A6', 'score': 10.09}, {'connected_gene': 'ENSG00000272716', 'score': 6.29}, {'connected_gene': 'XDH', 'score': 4.4}, {'connected_gene': 'SPAST', 'score': 0.39}, {'connected_gene': 'GC02M032061', 'score': 0.26}]
chr2	GH02I031332	31332050	31339457	1.11	[{'connected_gene': 'GALNT14', 'score': 18.04}, {'connected_gene': 'ENSG00000234579', 'score': 10.37}, {'connected_gene': 'GC02M031380', 'score': 0.26}, {'connected_gene': 'PIR52882', 'score': 0.26}, {'connected_gene': 'GC02P031291', 'score': 0.26}, {'connected_gene': 'XDH', 'score': 0.18}]
chr2	GH02I031381	31381455	31386814	1.15	[{'connected_gene': 'XDH', 'score': 10.03}, {'connected_gene': 'YIPF4', 'score': 4.17}, {'connected_gene': 'GC02M031380', 'score': 0.77}, {'connected_gene': 'PIR52882', 'score': 0.77}, {'connected_gene': 'GC02M031395', 'score': 0.34}]
chr2	GH02I031502	31502782	31505738	0.31	[{'connected_gene': 'XDH', 'score': 7.35}, {'connected_gene': 'SLC30A6', 'score': 4.82}, {'connected_gene': 'ENSG00000228563', 'score': 0.34}, {'connected_gene': 'GC02P031438', 'score': 0.2}]
chr2	GH02I031429	31429287	31430998	0.49	[{'connected_gene': 'XDH', 'score': 9.44}, {'connected_gene': 'SLC30A6', 'score': 4.66}, {'connected_gene': 'GC02P031438', 'score': 0.44}]
chr2	GH02I031980	31980101	31981729	1.13	[{'connected_gene': 'XDH', 'score': 5.06}, {'connected_gene': 'MEMO1', 'score': 0.29}, {'connected_gene': 'GC02P031938', 'score': 0.26}, {'connected_gene': 'DPY30', 'score': 0.22}]
chr2	GH02I031473	31473255	31477278	0.31	[{'connected_gene': 'XDH', 'score': 5.68}, {'connected_gene': 'EHD3', 'score': 4.53}, {'connected_gene': 'SLC30A6', 'score': 4.38}, {'connected_gene': 'GC02P031438', 'score': 0.28}, {'connected_gene': 'ENSG00000228563', 'score': 0.23}]
chr2	GH02I031411	31411689	31417000	1.42	[{'connected_gene': 'XDH', 'score': 559.43}, {'connected_gene': 'EHD3', 'score': 4.94}, {'connected_gene': 'GC02M031395', 'score': 0.44}]
chr2	GH02I031400	31400563	31403384	0.99	[{'connected_gene': 'XDH', 'score': 7.86}, {'connected_gene': 'GC02M031395', 'score': 0.77}, {'connected_gene': 'GC02M031380', 'score': 0.34}, {'connected_gene': 'PIR52882', 'score': 0.34}]
chr2	GH02I031388	31388898	31391911	0.58	[{'connected_gene': 'XDH', 'score': 7.21}, {'connected_gene': 'GC02M031380', 'score': 0.39}, {'connected_gene': 'PIR52882', 'score': 0.39}, {'connected_gene': 'GC02M031395', 'score': 0.37}]
chr2	GH02I032068	32068852	32070000	0.94	[{'connected_gene': 'SLC30A6', 'score': 9.64}, {'connected_gene': 'XDH', 'score': 4.45}, {'connected_gene': 'SPAST', 'score': 0.44}, {'connected_gene': 'GC02M032061', 'score': 0.25}]
chr2	GH02I031812	31811375	31813415	1.16	[{'connected_gene': 'SLC30A6', 'score': 5.87}, {'connected_gene': 'NLRC4', 'score': 5.55}, {'connected_gene': 'XDH', 'score': 4.42}, {'connected_gene': 'LINC01946', 'score': 0.44}, {'connected_gene': 'KRT18P52', 'score': 0.39}]
chr2	GH02I031347	31347129	31348535	0.2	[{'connected_gene': 'EHD3', 'score': 11.55}, {'connected_gene': 'CAPN14', 'score': 11.55}, {'connected_gene': 'GALNT14', 'score': 9.6}, {'connected_gene': 'GC02M031380', 'score': 0.29}, {'connected_gene': 'PIR52882', 'score': 0.29}, {'connected_gene': 'GC02P031291', 'score': 0.22}, {'connected_gene': 'XDH', 'score': 0.2}]
chr2	GH02I031378	31378148	31379764	0.8	[{'connected_gene': 'GC02M031380', 'score': 550.77}, {'connected_gene': 'PIR52882', 'score': 550.77}, {'connected_gene': 'YIPF4', 'score': 4.52}, {'connected_gene': 'XDH', 'score': 0.28}, {'connected_gene': 'GC02P031291', 'score': 0.17}]
chr2	GH02I031405	31405762	31408040	0.62	[{'connected_gene': 'GC02M031395', 'score': 550.77}, {'connected_gene': 'XDH', 'score': 8.06}, {'connected_gene': 'NLRC4', 'score': 4.13}]