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
ENST00000542236	[[123653856, 123654039], [123655058, 123655246], [123663037, 123666097]]	[[123663047, 123665180]]
ENST00000314218	[[123653856, 123654039], [123663037, 123666098]]	[[123663047, 123665180]]
ENST00000433287	[[123653951, 123654039], [123655058, 123655246], [123663037, 123663620]]	[[123663047, 123663620]]
NM_152618	[[123653856, 123654039], [123663037, 123666098]]	[[123663047, 123665180]]
NM_001178007	[[123653856, 123654039], [123655058, 123655246], [123663037, 123666098]]	[[123663047, 123665180]]

Promoter

Chrom	Start	End	Description
chr4	123653807	123653869	CAGE_peak_2_at_BBS12_5end
chr4	123653882	123653965	CAGE_peak_1_at_BBS12_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr4	GH04I122763	122762801	122766809	1.63	[{'connected_gene': 'CETN4P', 'score': 20.75}, {'connected_gene': 'FGF2', 'score': 15.11}, {'connected_gene': 'BBS12', 'score': 11.21}, {'connected_gene': 'SPATA5', 'score': 10.91}, {'connected_gene': 'NUDT6', 'score': 10.91}, {'connected_gene': 'CCNA2', 'score': 4.59}, {'connected_gene': 'LOC727709', 'score': 0.31}, {'connected_gene': 'RPL34P12', 'score': 0.23}]
chr4	GH04I122743	122743846	122745505	0.66	[{'connected_gene': 'CETN4P', 'score': 15.17}, {'connected_gene': 'FGF2', 'score': 10.94}, {'connected_gene': 'NUDT6', 'score': 10.85}, {'connected_gene': 'SPATA5', 'score': 10.85}, {'connected_gene': 'IL21-AS1', 'score': 10.38}, {'connected_gene': 'LOC727709', 'score': 0.44}, {'connected_gene': 'BBS12', 'score': 0.26}, {'connected_gene': 'RPL34P12', 'score': 0.19}]
chr4	GH04I122731	122731766	122734639	2.01	[{'connected_gene': 'CETN4P', 'score': 566.01}, {'connected_gene': 'BBS12', 'score': 550.29}, {'connected_gene': 'EXOSC9', 'score': 27.42}, {'connected_gene': 'SPATA5', 'score': 26.25}, {'connected_gene': 'KIAA1109', 'score': 12.33}, {'connected_gene': 'BBS7', 'score': 11.51}, {'connected_gene': 'ENSG00000273007', 'score': 10.98}, {'connected_gene': 'TRPC3', 'score': 10.08}, {'connected_gene': 'LOC727709', 'score': 0.44}]
chr4	GH04I122925	122925201	122925400	0.49	[{'connected_gene': 'CETN4P', 'score': 10.61}, {'connected_gene': 'BBS12', 'score': 10.6}, {'connected_gene': 'FGF2', 'score': 9.47}, {'connected_gene': 'SPATA5', 'score': 0.77}, {'connected_gene': 'COILP2', 'score': 0.15}]
chr4	GH04I122756	122756546	122757304	0.46	[{'connected_gene': 'CETN4P', 'score': 23.64}, {'connected_gene': 'BBS12', 'score': 11.22}, {'connected_gene': 'SPATA5', 'score': 10.91}, {'connected_gene': 'NUDT6', 'score': 10.91}, {'connected_gene': 'FGF2', 'score': 10.79}, {'connected_gene': 'LOC727709', 'score': 0.37}, {'connected_gene': 'RPL34P12', 'score': 0.22}]
chr4	GH04I122757	122757716	122758654	1.09	[{'connected_gene': 'CETN4P', 'score': 18.01}, {'connected_gene': 'BBS12', 'score': 11.22}, {'connected_gene': 'SPATA5', 'score': 10.9}, {'connected_gene': 'NUDT6', 'score': 10.9}, {'connected_gene': 'FGF2', 'score': 10.79}, {'connected_gene': 'LOC727709', 'score': 0.37}, {'connected_gene': 'RPL34P12', 'score': 0.22}]
chr4	GH04I122762	122762606	122762775	0.77	[{'connected_gene': 'CETN4P', 'score': 11.29}, {'connected_gene': 'BBS12', 'score': 11.21}, {'connected_gene': 'SPATA5', 'score': 10.9}, {'connected_gene': 'NUDT6', 'score': 10.9}, {'connected_gene': 'FGF2', 'score': 10.79}, {'connected_gene': 'LOC727709', 'score': 0.34}, {'connected_gene': 'RPL34P12', 'score': 0.23}]
chr4	GH04I122738	122738826	122740014	0.4	[{'connected_gene': 'LOC727709', 'score': 550.77}, {'connected_gene': 'FGF2', 'score': 10.93}, {'connected_gene': 'SPATA5', 'score': 10.84}, {'connected_gene': 'NUDT6', 'score': 10.84}, {'connected_gene': 'BBS12', 'score': 0.28}, {'connected_gene': 'RPL34P12', 'score': 0.18}]
chr4	GH04I122665	122665289	122669691	0.79	[{'connected_gene': 'IL21', 'score': 10.98}, {'connected_gene': 'IL21-AS1', 'score': 10.66}, {'connected_gene': 'FGF2', 'score': 9.84}, {'connected_gene': 'BBS12', 'score': 0.29}]
chr4	GH04I122621	122621056	122621115	0.5	[{'connected_gene': 'IL21', 'score': 550.77}, {'connected_gene': 'IL21-AS1', 'score': 0.77}, {'connected_gene': 'BBS12', 'score': 0.18}]
chr4	GH04I122914	122914296	122915331	0.8	[{'connected_gene': 'FGF2', 'score': 10.85}, {'connected_gene': 'CETN4P', 'score': 10.79}, {'connected_gene': 'BBS12', 'score': 10.78}, {'connected_gene': 'ENSG00000273007', 'score': 7.01}, {'connected_gene': 'NUDT6', 'score': 4.97}, {'connected_gene': 'SPATA5', 'score': 4.85}]
chr4	GH04I122908	122908880	122912328	0.54	[{'connected_gene': 'FGF2', 'score': 10.94}, {'connected_gene': 'CETN4P', 'score': 10.8}, {'connected_gene': 'BBS12', 'score': 10.78}, {'connected_gene': 'ENSG00000273007', 'score': 6.84}, {'connected_gene': 'NUDT6', 'score': 4.93}]
chr4	GH04I122850	122850296	122852102	0.31	[{'connected_gene': 'FGF2', 'score': 11.92}, {'connected_gene': 'SPATA5', 'score': 10.65}, {'connected_gene': 'NUDT6', 'score': 10.65}, {'connected_gene': 'BBS12', 'score': 4.53}, {'connected_gene': 'RPS26P23', 'score': 0.39}, {'connected_gene': 'ENSG00000273007', 'score': 0.29}]
chr4	GH04I122699	122699786	122700800	1.08	[{'connected_gene': 'BBS12', 'score': 550.77}, {'connected_gene': 'SPATA5', 'score': 15.72}, {'connected_gene': 'EXOSC9', 'score': 12.55}, {'connected_gene': 'ENSG00000237868', 'score': 10.82}, {'connected_gene': 'FGF2', 'score': 10.2}, {'connected_gene': 'IL21-AS1', 'score': 10.11}, {'connected_gene': 'CETN4P', 'score': 6.04}, {'connected_gene': 'IL21', 'score': 0.18}]
chr4	GH04I122688	122688401	122689000	0.46	[{'connected_gene': 'SPATA5', 'score': 15.72}, {'connected_gene': 'EXOSC9', 'score': 12.54}, {'connected_gene': 'ENSG00000237868', 'score': 10.82}, {'connected_gene': 'IL21-AS1', 'score': 9.76}, {'connected_gene': 'BBS12', 'score': 0.39}, {'connected_gene': 'IL21', 'score': 0.2}]
chr4	GH04I122710	122710401	122710600	0.59	[{'connected_gene': 'IL21-AS1', 'score': 10.3}, {'connected_gene': 'FGF2', 'score': 7.05}, {'connected_gene': 'BBS12', 'score': 0.39}, {'connected_gene': 'CETN4P', 'score': 0.34}]
chr4	GH04I122660	122660845	122662154	0.98	[{'connected_gene': 'IL21-AS1', 'score': 11.05}, {'connected_gene': 'BBS12', 'score': 10.6}, {'connected_gene': 'CETN4P', 'score': 10.51}, {'connected_gene': 'FGF2', 'score': 9.84}, {'connected_gene': 'IL21', 'score': 0.26}]
chr4	GH04I122689	122688001	122688035	0.7	[{'connected_gene': 'IL21-AS1', 'score': 9.76}, {'connected_gene': 'BBS12', 'score': 0.39}, {'connected_gene': 'IL21', 'score': 0.2}]