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
ENST00000471792	[[76123618, 76123806], [76124111, 76124123], [76134888, 76135017], [76140830, 76140987], [76141362, 76141448], [76143595, 76143643], [76169050, 76169126]]	None
ENST00000377595	[[76123926, 76123998], [76124111, 76124123], [76134888, 76135017], [76140830, 76140987], [76141362, 76141448], [76143595, 76143643], [76169050, 76169126], [76178904, 76178963], [76179864, 76180069]]	[[76123956, 76123998], [76124111, 76124123], [76134888, 76135017], [76140830, 76140987], [76141362, 76141448], [76143595, 76143643], [76169050, 76169126], [76178904, 76178963], [76179864, 76179948]]
ENST00000419068	[[76140845, 76140987], [76141362, 76141448], [76143595, 76143643], [76164073, 76164265], [76169050, 76169126], [76178904, 76178963], [76179864, 76180085]]	[[76140845, 76140987], [76141362, 76141448], [76143595, 76143643], [76164073, 76164265], [76169050, 76169126], [76178904, 76178963], [76179864, 76179948]]
ENST00000606347	[[76143258, 76143643], [76169050, 76169126], [76178904, 76178963], [76179864, 76180066]]	None
ENST00000607339	[[76178662, 76178963], [76179864, 76180069]]	None
NM_001270952	[[76123615, 76123806], [76124111, 76124123], [76134888, 76135017], [76140830, 76140987], [76141362, 76141448], [76143595, 76143643], [76169050, 76169126], [76178904, 76178963], [76179864, 76180156]]	[[76134942, 76135017], [76140830, 76140987], [76141362, 76141448], [76143595, 76143643], [76169050, 76169126], [76178904, 76178963], [76179864, 76179948]]
NM_006002	[[76123885, 76123998], [76124111, 76124123], [76134888, 76135017], [76140830, 76140987], [76141362, 76141448], [76143595, 76143643], [76169050, 76169126], [76178904, 76178963], [76179864, 76180156]]	[[76123956, 76123998], [76124111, 76124123], [76134888, 76135017], [76140830, 76140987], [76141362, 76141448], [76143595, 76143643], [76169050, 76169126], [76178904, 76178963], [76179864, 76179948]]

Promoter

Chrom	Start	End	Description
chr13	76123613	76123659	CAGE_peak_2_at_UCHL3_5end
chr13	76123870	76123881	CAGE_peak_3_at_UCHL3_5end
chr13	76123883	76123949	CAGE_peak_1_at_UCHL3_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr13	GH13I075373	75373023	75373883	0.82	[{'connected_gene': 'TBC1D4', 'score': 16.79}, {'connected_gene': 'UCHL3', 'score': 11.8}, {'connected_gene': 'COMMD6', 'score': 11.8}, {'connected_gene': 'ENSG00000225203', 'score': 0.77}, {'connected_gene': 'LINC01078', 'score': 0.13}]
chr13	GH13I075372	75372401	75372800	0.83	[{'connected_gene': 'TBC1D4', 'score': 17.27}, {'connected_gene': 'UCHL3', 'score': 11.8}, {'connected_gene': 'COMMD6', 'score': 11.8}, {'connected_gene': 'ENSG00000225203', 'score': 0.77}, {'connected_gene': 'LINC01078', 'score': 0.13}]
chr13	GH13I075363	75363615	75368938	1.49	[{'connected_gene': 'TBC1D4', 'score': 6.27}, {'connected_gene': 'ENSG00000228444', 'score': 4.67}, {'connected_gene': 'UCHL3', 'score': 4.61}, {'connected_gene': 'ENSG00000225203', 'score': 0.39}, {'connected_gene': 'LINC01078', 'score': 0.13}]
chr13	GH13I075480	75479258	75483290	2.27	[{'connected_gene': 'TBC1D4', 'score': 555.62}, {'connected_gene': 'COMMD6', 'score': 27.26}, {'connected_gene': 'UCHL3', 'score': 12.1}, {'connected_gene': 'ENSG00000228444', 'score': 10.13}, {'connected_gene': 'LMO7-AS1', 'score': 5.35}, {'connected_gene': 'ENSG00000225203', 'score': 0.15}]
chr13	GH13I075411	75411107	75413160	1.08	[{'connected_gene': 'UCHL3', 'score': 4.61}, {'connected_gene': 'ENSG00000225203', 'score': 0.29}, {'connected_gene': 'TBC1D4', 'score': 0.19}]
chr13	GH13I075440	75440252	75440869	1.01	[{'connected_gene': 'UCHL3', 'score': 6.79}, {'connected_gene': 'TBC1D4', 'score': 0.26}, {'connected_gene': 'ENSG00000225203', 'score': 0.21}]
chr13	GH13I075442	75442663	75444770	0.76	[{'connected_gene': 'UCHL3', 'score': 5.7}, {'connected_gene': 'TBC1D4', 'score': 4.72}, {'connected_gene': 'ENSG00000225203', 'score': 0.2}]
chr13	GH13I075491	75491785	75493756	0.68	[{'connected_gene': 'UCHL3', 'score': 12.4}, {'connected_gene': 'COMMD6', 'score': 12.4}, {'connected_gene': 'ENSG00000225203', 'score': 10.98}, {'connected_gene': 'TBC1D4', 'score': 0.39}, {'connected_gene': 'PIR51840', 'score': 0.31}]
chr13	GH13I075476	75476775	75477201	0.2	[{'connected_gene': 'UCHL3', 'score': 12.06}, {'connected_gene': 'COMMD6', 'score': 12.06}, {'connected_gene': 'ENSG00000225203', 'score': 11.1}, {'connected_gene': 'TBC1D4', 'score': 5.32}]
chr13	GH13I075504	75504974	75505915	0.54	[{'connected_gene': 'UCHL3', 'score': 13.02}, {'connected_gene': 'COMMD6', 'score': 13.02}, {'connected_gene': 'TBC1D4', 'score': 4.77}, {'connected_gene': 'PIR51840', 'score': 0.37}]
chr13	GH13I075485	75485124	75486514	0.65	[{'connected_gene': 'UCHL3', 'score': 12.1}, {'connected_gene': 'COMMD6', 'score': 12.1}, {'connected_gene': 'LMO7-AS1', 'score': 5.08}, {'connected_gene': 'TBC1D4', 'score': 5.04}, {'connected_gene': 'PIR51840', 'score': 0.28}]
chr13	GH13I075544	75544808	75545569	0.62	[{'connected_gene': 'UCHL3', 'score': 12.74}, {'connected_gene': 'COMMD6', 'score': 8.81}, {'connected_gene': 'GC13M075537', 'score': 0.77}]
chr13	GH13I075619	75619995	75622426	0.58	[{'connected_gene': 'LMO7', 'score': 550.77}, {'connected_gene': 'UCHL3', 'score': 12.57}, {'connected_gene': 'LMO7-AS1', 'score': 8.24}, {'connected_gene': 'ENSG00000228444', 'score': 0.39}, {'connected_gene': 'ENSG00000261553', 'score': 0.19}]
chr13	GH13I075506	75506201	75506407	0.37	[{'connected_gene': 'COMMD6', 'score': 18.98}, {'connected_gene': 'UCHL3', 'score': 13.02}, {'connected_gene': 'PIR51840', 'score': 0.39}, {'connected_gene': 'TBC1D4', 'score': 0.34}]
chr13	GH13I075489	75489401	75490400	1.03	[{'connected_gene': 'COMMD6', 'score': 19.41}, {'connected_gene': 'UCHL3', 'score': 12.4}, {'connected_gene': 'TBC1D4', 'score': 0.44}, {'connected_gene': 'PIR51840', 'score': 0.29}]
chr13	GH13I075495	75495642	75496674	0.2	[{'connected_gene': 'COMMD6', 'score': 18.78}, {'connected_gene': 'UCHL3', 'score': 11.76}, {'connected_gene': 'ENSG00000225203', 'score': 10.98}, {'connected_gene': 'TBC1D4', 'score': 4.96}, {'connected_gene': 'PIR51840', 'score': 0.31}]
chr13	GH13I075537	75537000	75538774	2.01	[{'connected_gene': 'COMMD6', 'score': 558.03}, {'connected_gene': 'UCHL3', 'score': 10.3}, {'connected_gene': 'LMO7-AS1', 'score': 8.66}, {'connected_gene': 'GC13M075537', 'score': 0.77}, {'connected_gene': 'GC13P075531', 'score': 0.44}]
chr13	GH13I075548	75548739	75551005	2.04	[{'connected_gene': 'COMMD6', 'score': 571.47}, {'connected_gene': 'UCHL3', 'score': 563.05}, {'connected_gene': 'ENSG00000261553', 'score': 550.77}, {'connected_gene': 'LMO7-AS1', 'score': 7.97}, {'connected_gene': 'GC13M075563', 'score': 0.39}]
chr13	GH13I075634	75634965	75638008	1.62	[{'connected_gene': 'LMO7-AS1', 'score': 608.02}, {'connected_gene': 'UCHL3', 'score': 10.67}, {'connected_gene': 'COMMD6', 'score': 10.67}, {'connected_gene': 'GC13P075644', 'score': 0.44}, {'connected_gene': 'LMO7', 'score': 0.37}, {'connected_gene': 'ENSG00000261553', 'score': 0.17}]
chr13	GH13I075632	75632587	75634490	1.03	[{'connected_gene': 'LMO7-AS1', 'score': 66.4}, {'connected_gene': 'UCHL3', 'score': 10.68}, {'connected_gene': 'COMMD6', 'score': 10.68}, {'connected_gene': 'ENSG00000228444', 'score': 0.77}, {'connected_gene': 'LMO7', 'score': 0.39}, {'connected_gene': 'ENSG00000261553', 'score': 0.18}]
chr13	GH13I075660	75660250	75662470	0.43	[{'connected_gene': 'LMO7-AS1', 'score': 14.21}, {'connected_gene': 'LMO7DN', 'score': 9.87}, {'connected_gene': 'UCHL3', 'score': 6.28}, {'connected_gene': 'GC13P075644', 'score': 0.37}, {'connected_gene': 'FAM204CP', 'score': 0.31}, {'connected_gene': 'LMO7', 'score': 0.26}, {'connected_gene': 'ENSG00000261553', 'score': 0.14}]
chr13	GH13I075541	75541345	75541554	0.43	[{'connected_gene': 'GC13M075537', 'score': 550.77}, {'connected_gene': 'UCHL3', 'score': 0.44}, {'connected_gene': 'COMMD6', 'score': 0.44}, {'connected_gene': 'GC13P075531', 'score': 0.39}]
chr13	GH13I075559	75559505	75559694	0.38	[{'connected_gene': 'GC13M075563', 'score': 0.77}, {'connected_gene': 'ENSG00000261553', 'score': 0.44}, {'connected_gene': 'UCHL3', 'score': 0.39}]
chr13	GH13I075564	75564715	75565124	0.25	[{'connected_gene': 'GC13M075563', 'score': 550.77}, {'connected_gene': 'ENSG00000228444', 'score': 10.9}, {'connected_gene': 'LMO7-AS1', 'score': 10.89}, {'connected_gene': 'UCHL3', 'score': 0.37}, {'connected_gene': 'ENSG00000261553', 'score': 0.37}, {'connected_gene': 'GC13M075606', 'score': 0.26}]