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
ENST00000563599	[[46723554, 46723682], [46724969, 46725032], [46726293, 46726457], [46727004, 46727094], [46729473, 46729586], [46729928, 46729997], [46731369, 46731423]]	[[46723617, 46723682], [46724969, 46725015]]
ENST00000219097	[[46723557, 46723682], [46724902, 46725032], [46726293, 46726457], [46727004, 46727094], [46729473, 46729586], [46729928, 46729997], [46731369, 46732306]]	[[46723617, 46723682], [46724902, 46725032], [46726293, 46726457], [46727004, 46727094], [46729473, 46729586], [46729928, 46729997], [46731369, 46731497]]
ENST00000569239	[[46723570, 46723682], [46724902, 46725032], [46726293, 46726457], [46727004, 46728431]]	None
ENST00000563306	[[46723593, 46723741], [46724902, 46725032], [46726293, 46726457], [46727004, 46727094], [46729473, 46730131]]	None
ENST00000568364	[[46723608, 46723682], [46724902, 46725032], [46726293, 46726457], [46727004, 46727094], [46729928, 46729997], [46731369, 46731730]]	[[46723617, 46723682], [46724902, 46725032], [46726293, 46726457], [46727004, 46727094], [46729928, 46729983]]
ENST00000570260	[[46723618, 46723682], [46724902, 46725032], [46726293, 46726457], [46727004, 46727094], [46728850, 46728963]]	None
ENST00000566860	[[46724697, 46725032], [46726293, 46726457], [46727004, 46727094], [46729473, 46729586], [46729928, 46729997], [46731369, 46732297]]	[[46724984, 46725032], [46726293, 46726457], [46727004, 46727094], [46729473, 46729586], [46729928, 46729997], [46731369, 46731497]]
ENST00000575571	[[46728848, 46728996], [46729473, 46729586], [46729928, 46729997], [46731369, 46731810]]	None
ENST00000567000	[[46729020, 46729586], [46729928, 46729997], [46731369, 46732294]]	None
NM_014321	[[46723557, 46723682], [46724902, 46725032], [46726293, 46726457], [46727004, 46727094], [46729473, 46729586], [46729928, 46729997], [46731369, 46732306]]	[[46723617, 46723682], [46724902, 46725032], [46726293, 46726457], [46727004, 46727094], [46729473, 46729586], [46729928, 46729997], [46731369, 46731497]]
NR_037620	[[46723557, 46723741], [46724902, 46725032], [46726293, 46726457], [46727004, 46727094], [46729473, 46729586], [46729928, 46729997], [46731369, 46732306]]	None

Promoter

Chrom	Start	End	Description
chr16	46723526	46723534	CAGE_peak_2_at_ORC6_5end
chr16	46723552	46723612	CAGE_peak_1_at_ORC6_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr16	GH16I046746	46746478	46750226	1.76	[{'connected_gene': 'MYLK3', 'score': 566.38}, {'connected_gene': 'SHCBP1', 'score': 13.34}, {'connected_gene': 'ORC6', 'score': 11.25}, {'connected_gene': 'VPS35', 'score': 11.25}, {'connected_gene': 'GPT2', 'score': 3.82}, {'connected_gene': 'GC16M046768', 'score': 0.31}, {'connected_gene': 'GC16P046705', 'score': 0.26}]
chr16	GH16I046735	46735361	46738937	0.38	[{'connected_gene': 'MYLK3', 'score': 12.11}, {'connected_gene': 'ORC6', 'score': 11.52}, {'connected_gene': 'VPS35', 'score': 11.52}, {'connected_gene': 'SHCBP1', 'score': 11.3}, {'connected_gene': 'GPT2', 'score': 3.81}, {'connected_gene': 'GC16P046705', 'score': 0.29}, {'connected_gene': 'GC16M046768', 'score': 0.28}]
chr16	GH16I046711	46711201	46711800	0.92	[{'connected_gene': 'MYLK3', 'score': 11.96}, {'connected_gene': 'ORC6', 'score': 11.52}, {'connected_gene': 'VPS35', 'score': 11.52}, {'connected_gene': 'GC16P046705', 'score': 0.44}, {'connected_gene': 'GC16M046768', 'score': 0.21}]
chr16	GH16I046710	46710514	46711065	0.2	[{'connected_gene': 'MYLK3', 'score': 11.96}, {'connected_gene': 'ORC6', 'score': 11.52}, {'connected_gene': 'VPS35', 'score': 11.52}, {'connected_gene': 'GC16P046705', 'score': 0.44}, {'connected_gene': 'GC16M046768', 'score': 0.21}]
chr16	GH16I046836	46836801	46837400	0.46	[{'connected_gene': 'GPT2', 'score': 11.47}, {'connected_gene': 'ORC6', 'score': 11.11}, {'connected_gene': 'VPS35', 'score': 11.11}, {'connected_gene': 'MYLK3', 'score': 10.6}, {'connected_gene': 'C16orf87', 'score': 0.44}, {'connected_gene': 'CKBP1', 'score': 0.44}]
chr16	GH16I046727	46727729	46734556	0.38	[{'connected_gene': 'SHCBP1', 'score': 12.95}, {'connected_gene': 'MYLK3', 'score': 12.1}, {'connected_gene': 'ORC6', 'score': 11.54}, {'connected_gene': 'VPS35', 'score': 11.54}, {'connected_gene': 'ANKRD26P1', 'score': 5.55}, {'connected_gene': 'C16orf87', 'score': 4.23}, {'connected_gene': 'GC16P046705', 'score': 0.31}, {'connected_gene': 'GC16M046768', 'score': 0.26}]
chr16	GH16I046756	46756546	46758278	1.16	[{'connected_gene': 'SHCBP1', 'score': 14.0}, {'connected_gene': 'C16orf87', 'score': 6.53}, {'connected_gene': 'ORC6', 'score': 3.09}, {'connected_gene': 'GC16M046768', 'score': 0.37}, {'connected_gene': 'MYLK3', 'score': 0.29}, {'connected_gene': 'GC16P046705', 'score': 0.23}]
chr16	GH16I046832	46832869	46833018	0.71	[{'connected_gene': 'C16orf87', 'score': 550.77}, {'connected_gene': 'ORC6', 'score': 11.11}, {'connected_gene': 'VPS35', 'score': 11.11}, {'connected_gene': 'GPT2', 'score': 11.06}, {'connected_gene': 'CKBP1', 'score': 0.39}]
chr16	GH16I046686	46686163	46691941	2.06	[{'connected_gene': 'ORC6', 'score': 550.77}, {'connected_gene': 'VPS35', 'score': 550.77}, {'connected_gene': 'GPT2', 'score': 13.88}, {'connected_gene': 'SHCBP1', 'score': 12.64}, {'connected_gene': 'ENSG00000261131', 'score': 12.39}, {'connected_gene': 'MYLK3', 'score': 10.89}, {'connected_gene': 'ANKRD26P1', 'score': 5.78}, {'connected_gene': 'ENSG00000280376', 'score': 0.37}]
chr16	GH16I046809	46809601	46810200	0.38	[{'connected_gene': 'ORC6', 'score': 11.03}, {'connected_gene': 'VPS35', 'score': 11.03}, {'connected_gene': 'GPT2', 'score': 10.27}, {'connected_gene': 'GC16P046804', 'score': 0.44}, {'connected_gene': 'C16orf87', 'score': 0.34}]
chr16	GH16I046611	46611987	46612899	0.43	[{'connected_gene': 'ORC6', 'score': 11.27}, {'connected_gene': 'VPS35', 'score': 11.27}, {'connected_gene': 'SHCBP1', 'score': 0.39}, {'connected_gene': 'GC16P046596', 'score': 0.37}, {'connected_gene': 'GC16P046597', 'score': 0.37}]
chr16	GH16I046658	46658513	46660013	0.83	[{'connected_gene': 'ORC6', 'score': 11.87}, {'connected_gene': 'VPS35', 'score': 11.87}, {'connected_gene': 'ENSG00000261131', 'score': 0.77}, {'connected_gene': 'PIR53331', 'score': 0.44}]
chr16	GH16I046843	46843923	46845162	0.38	[{'connected_gene': 'CKBP1', 'score': 550.77}, {'connected_gene': 'GPT2', 'score': 12.1}, {'connected_gene': 'ORC6', 'score': 11.23}, {'connected_gene': 'VPS35', 'score': 11.23}, {'connected_gene': 'MYLK3', 'score': 10.91}, {'connected_gene': 'C16orf87', 'score': 0.39}]
chr16	GH16I046695	46695807	46698128	0.43	[{'connected_gene': 'PIR35721', 'score': 550.77}, {'connected_gene': 'GPT2', 'score': 13.29}, {'connected_gene': 'MYLK3', 'score': 10.81}, {'connected_gene': 'ORC6', 'score': 0.44}]