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
ENST00000377844	[[70274725, 70275893], [70281756, 70281928], [70293500, 70293713], [70314525, 70314688], [70370869, 70371094], [70413107, 70413294], [70456414, 70456627], [70514171, 70514368], [70535439, 70535576], [70549751, 70549934], [70681334, 70682591]]	[[70275833, 70275893], [70281756, 70281928], [70293500, 70293713], [70314525, 70314688], [70370869, 70371094], [70413107, 70413294], [70456414, 70456627], [70514171, 70514368], [70535439, 70535576], [70549751, 70549934], [70681334, 70681831]]
ENST00000545028	[[70275743, 70275893], [70281756, 70281928], [70293500, 70293713], [70314525, 70314688], [70370869, 70371094], [70413107, 70413294], [70456414, 70456627], [70514171, 70514368], [70535439, 70535576], [70681334, 70681814]]	[[70275833, 70275893], [70281756, 70281928], [70293500, 70293713], [70314525, 70314688], [70370869, 70371094], [70413107, 70413294], [70456414, 70456627], [70514171, 70514368], [70535439, 70535576], [70681334, 70681435]]
NM_020866	[[70274724, 70275893], [70281756, 70281928], [70293500, 70293713], [70314525, 70314688], [70370869, 70371094], [70413107, 70413294], [70456414, 70456627], [70514171, 70514368], [70535439, 70535576], [70549751, 70549934], [70681334, 70682625]]	[[70275833, 70275893], [70281756, 70281928], [70293500, 70293713], [70314525, 70314688], [70370869, 70371094], [70413107, 70413294], [70456414, 70456627], [70514171, 70514368], [70535439, 70535576], [70549751, 70549934], [70681334, 70681831]]
NM_001286725	[[70274724, 70275893], [70281756, 70281928], [70293500, 70293713], [70314525, 70314688], [70370869, 70371094], [70413107, 70413294], [70456414, 70456627], [70514171, 70514368], [70535439, 70535576], [70681334, 70682625]]	[[70275833, 70275893], [70281756, 70281928], [70293500, 70293713], [70314525, 70314688], [70370869, 70371094], [70413107, 70413294], [70456414, 70456627], [70514171, 70514368], [70535439, 70535576], [70681334, 70681831]]

Promoter

Chrom	Start	End	Description
chr13	70682553	70682568	CAGE_peak_2_at_KLHL1_5end
chr13	70682573	70682589	CAGE_peak_1_at_KLHL1_5end
chr13	70682590	70682601	CAGE_peak_3_at_KLHL1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr13	GH13I070108	70108442	70108501	0.61	[{'connected_gene': 'ATXN8OS', 'score': 550.77}, {'connected_gene': 'KLHL1', 'score': 550.77}]
chr13	GH13I070248	70248881	70250115	0.69	[{'connected_gene': 'ATXN8OS', 'score': 11.07}, {'connected_gene': 'KLHL1', 'score': 11.07}, {'connected_gene': 'GC13P070460', 'score': 0.08}]
chr13	GH13I069987	69987702	69988039	0.22	[{'connected_gene': 'KLHL1', 'score': 3.49}, {'connected_gene': 'GC13P069967', 'score': 0.34}, {'connected_gene': 'LUC7L3P1', 'score': 0.15}]
chr13	GH13I070432	70432227	70433178	0.38	[{'connected_gene': 'RNU6-54P', 'score': 11.82}, {'connected_gene': 'GC13P070460', 'score': 0.31}, {'connected_gene': 'KLHL1', 'score': 0.05}]
chr13	GH13I069856	69856211	69857138	0.49	[{'connected_gene': 'PSMC1P13', 'score': 0.28}, {'connected_gene': 'RNY3P10', 'score': 0.23}, {'connected_gene': 'KLHL1', 'score': 0.07}]
chr13	GH13I070097	70097133	70097429	0.22	[{'connected_gene': 'LUC7L3P1', 'score': 0.44}, {'connected_gene': 'ATXN8OS', 'score': 0.44}, {'connected_gene': 'KLHL1', 'score': 0.39}]
chr13	GH13I070042	70042123	70042707	0.6	[{'connected_gene': 'LUC7L3P1', 'score': 0.25}, {'connected_gene': 'KLHL1', 'score': 0.2}, {'connected_gene': 'GC13P069967', 'score': 0.19}]
chr13	GH13I069720	69720036	69721391	0.38	[{'connected_gene': 'GC13M069445', 'score': 0.19}, {'connected_gene': 'GC13P069803', 'score': 0.18}, {'connected_gene': 'KLHL1', 'score': 0.05}]
chr13	GH13I070424	70424249	70424740	0.31	[{'connected_gene': 'GC13P070460', 'score': 0.29}, {'connected_gene': 'KLHL1', 'score': 0.06}]
chr13	GH13I069793	69793969	69794238	0.46	[{'connected_gene': 'GC13P069803', 'score': 0.44}, {'connected_gene': 'GC13M069445', 'score': 0.11}, {'connected_gene': 'KLHL1', 'score': 0.06}]
chr13	GH13I069949	69949423	69949554	0.33	[{'connected_gene': 'GC13P069967', 'score': 0.37}, {'connected_gene': 'NT5CP3', 'score': 0.28}, {'connected_gene': 'KLHL1', 'score': 0.1}]
chr13	GH13I069970	69970014	69971124	0.52	[{'connected_gene': 'GC13P069967', 'score': 0.77}, {'connected_gene': 'LUC7L3P1', 'score': 0.13}, {'connected_gene': 'KLHL1', 'score': 0.12}]