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
ENST00000374037	[[34505578, 34506229], [34507026, 34507173], [34507291, 34507339], [34508760, 34508958], [34511796, 34512261], [34523705, 34524091]]	[[34506050, 34506229], [34507026, 34507173], [34507291, 34507339], [34508760, 34508958], [34511796, 34512232]]
ENST00000544425	[[34505767, 34506229], [34507026, 34507173], [34508760, 34508958], [34511796, 34512261], [34523705, 34524110]]	[[34506050, 34506229], [34507026, 34507173], [34508760, 34508958], [34511796, 34512232]]
NM_012391	[[34505578, 34506229], [34507026, 34507173], [34507291, 34507339], [34508760, 34508958], [34511796, 34512261], [34523705, 34524110]]	[[34506050, 34506229], [34507026, 34507173], [34507291, 34507339], [34508760, 34508958], [34511796, 34512232]]
NM_001252294	[[34505578, 34506229], [34507026, 34507173], [34508760, 34508958], [34511796, 34512261], [34523705, 34524110]]	[[34506050, 34506229], [34507026, 34507173], [34508760, 34508958], [34511796, 34512232]]

Promoter

Chrom	Start	End	Description
chr6	34524025	34524045	CAGE_peak_3_at_SPDEF_5end
chr6	34524049	34524089	CAGE_peak_2_at_SPDEF_5end
chr6	34524093	34524135	CAGE_peak_1_at_SPDEF_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr6	GH06I034551	34551916	34553429	0.57	[{'connected_gene': 'ZNF76', 'score': 15.59}, {'connected_gene': 'TAF11', 'score': 15.26}, {'connected_gene': 'LEMD2', 'score': 14.56}, {'connected_gene': 'ENSG00000272374', 'score': 11.08}, {'connected_gene': 'SPDEF', 'score': 0.77}, {'connected_gene': 'PACSIN1', 'score': 0.17}]
chr6	GH06I034546	34546493	34548286	0.82	[{'connected_gene': 'TAF11', 'score': 15.02}, {'connected_gene': 'RPS10', 'score': 13.07}, {'connected_gene': 'FANCE', 'score': 12.97}, {'connected_gene': 'RPL35P2', 'score': 12.39}, {'connected_gene': 'SPDEF', 'score': 0.44}, {'connected_gene': 'PACSIN1', 'score': 0.18}]
chr6	GH06I034562	34562504	34563579	0.92	[{'connected_gene': 'RPS10', 'score': 5.02}, {'connected_gene': 'SPDEF', 'score': 0.44}, {'connected_gene': 'GC06M038603', 'score': 0.39}]
chr6	GH06I034484	34484559	34486766	0.73	[{'connected_gene': 'UHRF1BP1', 'score': 5.09}, {'connected_gene': 'PACSIN1', 'score': 0.37}, {'connected_gene': 'SPDEF', 'score': 0.19}]
chr6	GH06I034468	34468504	34468653	0.66	[{'connected_gene': 'UHRF1BP1', 'score': 5.42}, {'connected_gene': 'PACSIN1', 'score': 0.77}, {'connected_gene': 'SPDEF', 'score': 0.17}]
chr6	GH06I034608	34608949	34611681	1.24	[{'connected_gene': 'UHRF1BP1', 'score': 55.61}, {'connected_gene': 'SPDEF', 'score': 11.41}, {'connected_gene': 'ENSG00000220643', 'score': 11.11}, {'connected_gene': 'C6orf106', 'score': 11.09}, {'connected_gene': 'GRM4', 'score': 10.17}, {'connected_gene': 'ANKS1A', 'score': 9.83}, {'connected_gene': 'TAF11', 'score': 9.83}, {'connected_gene': 'RPL7P25', 'score': 0.44}, {'connected_gene': 'GC06P042409', 'score': 0.39}]
chr6	GH06I034544	34544666	34545573	1.27	[{'connected_gene': 'UHRF1BP1', 'score': 4.6}, {'connected_gene': 'SPDEF', 'score': 2.16}, {'connected_gene': 'PACSIN1', 'score': 0.18}]
chr6	GH06I034602	34602640	34603233	0.98	[{'connected_gene': 'UHRF1BP1', 'score': 12.23}, {'connected_gene': 'SPDEF', 'score': 11.97}, {'connected_gene': 'GRM4', 'score': 10.68}, {'connected_gene': 'GC06P042409', 'score': 0.77}, {'connected_gene': 'RPL7P25', 'score': 0.39}, {'connected_gene': 'C6orf106', 'score': 0.16}]
chr6	GH06I034526	34526382	34527975	1.36	[{'connected_gene': 'DEF6', 'score': 4.17}, {'connected_gene': 'SPDEF', 'score': 0.31}, {'connected_gene': 'PACSIN1', 'score': 0.21}]
chr6	GH06I034514	34514823	34514882	0.95	[{'connected_gene': 'PACSIN1', 'score': 550.25}, {'connected_gene': 'SPDEF', 'score': 0.26}]
chr6	GH06I034490	34490251	34491544	0.97	[{'connected_gene': 'PACSIN1', 'score': 0.34}, {'connected_gene': 'SPDEF', 'score': 0.2}]
chr6	GH06I034483	34483399	34483458	0.5	[{'connected_gene': 'PACSIN1', 'score': 550.37}, {'connected_gene': 'SPDEF', 'score': 0.19}]
chr6	GH06I034554	34554842	34555140	0.89	[{'connected_gene': 'SPDEF', 'score': 552.5}, {'connected_gene': 'UHRF1BP1', 'score': 4.41}, {'connected_gene': 'PACSIN1', 'score': 0.17}]
chr6	GH06I034555	34555244	34556896	1.44	[{'connected_gene': 'SPDEF', 'score': 550.77}, {'connected_gene': 'UHRF1BP1', 'score': 5.62}, {'connected_gene': 'PACSIN1', 'score': 0.16}]
chr6	GH06I034579	34579328	34580488	0.38	[{'connected_gene': 'SPDEF', 'score': 13.08}, {'connected_gene': 'UHRF1BP1', 'score': 12.59}, {'connected_gene': 'GRM4', 'score': 10.62}, {'connected_gene': 'LOC100101247', 'score': 0.77}, {'connected_gene': 'GC06M038611', 'score': 0.44}]
chr6	GH06I034536	34536744	34536893	0.9	[{'connected_gene': 'SPDEF', 'score': 0.37}, {'connected_gene': 'PACSIN1', 'score': 0.19}]
chr6	GH06I034531	34531377	34532740	0.86	[{'connected_gene': 'SPDEF', 'score': 13.3}, {'connected_gene': 'PACSIN1', 'score': 0.2}]
chr6	GH06I034550	34550705	34551876	0.31	[{'connected_gene': 'SPDEF', 'score': 0.44}, {'connected_gene': 'PACSIN1', 'score': 0.17}]
chr6	GH06I034533	34533909	34535126	0.2	[{'connected_gene': 'SPDEF', 'score': 12.91}, {'connected_gene': 'PACSIN1', 'score': 0.2}]
chr6	GH06I034581	34581164	34581313	0.2	[{'connected_gene': 'SPDEF', 'score': 13.08}, {'connected_gene': 'GRM4', 'score': 10.62}, {'connected_gene': 'LOC100101247', 'score': 0.77}, {'connected_gene': 'GC06M038611', 'score': 0.77}]
chr6	GH06I034557	34557004	34557321	0.89	[{'connected_gene': 'SPDEF', 'score': 550.77}, {'connected_gene': 'GC06M038603', 'score': 0.37}]
chr6	GH06I034559	34559797	34561817	1.43	[{'connected_gene': 'LEMD2', 'score': 28.44}, {'connected_gene': 'RPL10A', 'score': 24.07}, {'connected_gene': 'RPS10', 'score': 22.68}, {'connected_gene': 'TAF11', 'score': 20.64}, {'connected_gene': 'ENSG00000219023', 'score': 20.11}, {'connected_gene': 'ITPR3', 'score': 18.01}, {'connected_gene': 'FANCE', 'score': 14.51}, {'connected_gene': 'ZNF76', 'score': 10.49}, {'connected_gene': 'UHRF1BP1', 'score': 4.85}, {'connected_gene': 'SPDEF', 'score': 0.77}, {'connected_gene': 'GC06M038603', 'score': 0.37}]
chr6	GH06I034586	34586185	34590246	0.43	[{'connected_gene': 'PIR44362', 'score': 550.77}, {'connected_gene': 'UHRF1BP1', 'score': 20.64}, {'connected_gene': 'SPDEF', 'score': 13.04}, {'connected_gene': 'GRM4', 'score': 10.62}, {'connected_gene': 'GC06M038611', 'score': 0.77}, {'connected_gene': 'C6orf106', 'score': 0.14}]
chr6	GH06I034567	34567337	34567732	0.57	[{'connected_gene': 'GC06M038603', 'score': 0.44}, {'connected_gene': 'SPDEF', 'score': 0.39}]
chr6	GH06I034575	34575444	34575553	0.79	[{'connected_gene': 'GC06M038603', 'score': 550.77}, {'connected_gene': 'LOC100101247', 'score': 550.77}, {'connected_gene': 'SPDEF', 'score': 0.37}]