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
ENST00000541043	[[32384617, 32384733], [32386368, 32386436], [32405482, 32405601], [32407258, 32407427], [32408511, 32408649], [32418125, 32418195], [32418325, 32418509], [32419035, 32419175], [32420853, 32421025], [32423316, 32423417], [32424546, 32424663], [32425835, 32425995], [32427298, 32427434], [32429416, 32429501], [32430415, 32430572], [32431716, 32431841], [32433725, 32433830], [32434556, 32434699], [32436247, 32436395], [32440462, 32440585], [32448893, 32449079], [32449995, 32450830]]	[[32408542, 32408649], [32418125, 32418195], [32418325, 32418509], [32419035, 32419175], [32420853, 32421025], [32423316, 32423417], [32424546, 32424663], [32425835, 32425995], [32427298, 32427434], [32429416, 32429501], [32430415, 32430572], [32431716, 32431841], [32433725, 32433830], [32434556, 32434699], [32436247, 32436395], [32440462, 32440585], [32448893, 32449079], [32449995, 32450109]]
ENST00000379923	[[32384617, 32384733], [32386368, 32386436], [32405482, 32405601], [32407258, 32407427], [32408511, 32408649], [32418125, 32418195], [32418325, 32418509], [32419035, 32419175], [32420853, 32421025], [32423316, 32423417], [32424546, 32424663], [32425835, 32425995], [32427298, 32427434], [32429416, 32429501], [32430415, 32430572], [32431716, 32431841], [32433725, 32433830], [32434556, 32434699], [32436247, 32436395], [32440462, 32440585], [32448893, 32449079], [32449995, 32450834]]	[[32405504, 32405601], [32407258, 32407427], [32408511, 32408649], [32418125, 32418195], [32418325, 32418509], [32419035, 32419175], [32420853, 32421025], [32423316, 32423417], [32424546, 32424663], [32425835, 32425995], [32427298, 32427434], [32429416, 32429501], [32430415, 32430572], [32431716, 32431841], [32433725, 32433830], [32434556, 32434699], [32436247, 32436395], [32440462, 32440585], [32448893, 32449079], [32449995, 32450109]]
ENST00000309951	[[32384617, 32384733], [32405482, 32405601], [32407258, 32407427], [32408511, 32408649], [32418125, 32418195], [32418325, 32418509], [32419035, 32419175], [32420853, 32421025], [32423316, 32423417], [32424546, 32424663], [32425835, 32425995], [32427298, 32427434], [32429416, 32429501], [32430415, 32430572], [32431716, 32431841], [32433725, 32433830], [32434556, 32434699], [32436247, 32436395], [32440462, 32440585], [32448893, 32449079], [32449995, 32454767]]	[[32405504, 32405601], [32407258, 32407427], [32408511, 32408649], [32418125, 32418195], [32418325, 32418509], [32419035, 32419175], [32420853, 32421025], [32423316, 32423417], [32424546, 32424663], [32425835, 32425995], [32427298, 32427434], [32429416, 32429501], [32430415, 32430572], [32431716, 32431841], [32433725, 32433830], [32434556, 32434699], [32436247, 32436395], [32440462, 32440585], [32448893, 32449079], [32449995, 32450109]]
NM_002197	[[32384600, 32384733], [32405482, 32405601], [32407258, 32407427], [32408511, 32408649], [32418125, 32418195], [32418325, 32418509], [32419035, 32419175], [32420853, 32421025], [32423316, 32423417], [32424546, 32424663], [32425835, 32425995], [32427298, 32427434], [32429416, 32429501], [32430415, 32430572], [32431716, 32431841], [32433725, 32433830], [32434556, 32434699], [32436247, 32436395], [32440462, 32440585], [32448893, 32449079], [32449995, 32450834]]	[[32405504, 32405601], [32407258, 32407427], [32408511, 32408649], [32418125, 32418195], [32418325, 32418509], [32419035, 32419175], [32420853, 32421025], [32423316, 32423417], [32424546, 32424663], [32425835, 32425995], [32427298, 32427434], [32429416, 32429501], [32430415, 32430572], [32431716, 32431841], [32433725, 32433830], [32434556, 32434699], [32436247, 32436395], [32440462, 32440585], [32448893, 32449079], [32449995, 32450109]]
NM_001278352	[[32384600, 32384733], [32386368, 32386440], [32405482, 32405601], [32407258, 32407427], [32408511, 32408649], [32418125, 32418195], [32418325, 32418509], [32419035, 32419175], [32420853, 32421025], [32423316, 32423417], [32424546, 32424663], [32425835, 32425995], [32427298, 32427434], [32429416, 32429501], [32430415, 32430572], [32431716, 32431841], [32433725, 32433830], [32434556, 32434699], [32436247, 32436395], [32440462, 32440585], [32448893, 32449079], [32449995, 32450834]]	[[32405504, 32405601], [32407258, 32407427], [32408511, 32408649], [32418125, 32418195], [32418325, 32418509], [32419035, 32419175], [32420853, 32421025], [32423316, 32423417], [32424546, 32424663], [32425835, 32425995], [32427298, 32427434], [32429416, 32429501], [32430415, 32430572], [32431716, 32431841], [32433725, 32433830], [32434556, 32434699], [32436247, 32436395], [32440462, 32440585], [32448893, 32449079], [32449995, 32450109]]

Promoter

Chrom	Start	End	Description
chr9	32384617	32384709	CAGE_peak_1_at_ACO1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr9	GH09I032422	32422156	32428674	1.28	[{'connected_gene': 'ACO1', 'score': 19.31}, {'connected_gene': 'NDUFB6', 'score': 11.34}, {'connected_gene': 'TMEM215', 'score': 9.76}, {'connected_gene': 'DDX58', 'score': 6.06}, {'connected_gene': 'LOC105376014', 'score': 0.31}]
chr9	GH09I032581	32581683	32581792	0.54	[{'connected_gene': 'ACO1', 'score': 11.69}, {'connected_gene': 'NDUFB6', 'score': 0.44}, {'connected_gene': 'LOC105376015', 'score': 0.31}]
chr9	GH09I032579	32579843	32579992	0.62	[{'connected_gene': 'ACO1', 'score': 11.69}, {'connected_gene': 'NDUFB6', 'score': 0.44}, {'connected_gene': 'LOC105376015', 'score': 0.31}]
chr9	GH09I032604	32604303	32604472	0.73	[{'connected_gene': 'ACO1', 'score': 10.75}, {'connected_gene': 'TMEM215', 'score': 9.96}, {'connected_gene': 'LOC105376015', 'score': 0.77}, {'connected_gene': 'NDUFB6', 'score': 0.29}]
chr9	GH09I032343	32343175	32346189	0.72	[{'connected_gene': 'ACO1', 'score': 15.77}, {'connected_gene': 'SLC25A5P8', 'score': 0.39}]
chr9	GH09I032429	32429328	32433229	0.94	[{'connected_gene': 'ACO1', 'score': 19.88}, {'connected_gene': 'DDX58', 'score': 9.24}, {'connected_gene': 'TMEM215', 'score': 8.89}, {'connected_gene': 'LOC105376014', 'score': 0.34}]
chr9	GH09I032441	32441423	32442454	0.31	[{'connected_gene': 'ACO1', 'score': 11.59}, {'connected_gene': 'DDX58', 'score': 10.39}, {'connected_gene': 'LOC105376014', 'score': 0.39}]
chr9	GH09I032390	32390252	32392425	0.2	[{'connected_gene': 'ACO1', 'score': 11.69}, {'connected_gene': 'DDX58', 'score': 5.1}, {'connected_gene': 'TOPORS', 'score': 4.77}, {'connected_gene': 'LOC105376014', 'score': 0.21}]
chr9	GH09I032393	32393509	32396936	1.09	[{'connected_gene': 'ACO1', 'score': 9.53}, {'connected_gene': 'DDX58', 'score': 6.84}, {'connected_gene': 'TOPORS', 'score': 4.77}, {'connected_gene': 'LOC105376014', 'score': 0.22}]
chr9	GH09I032388	32388496	32390060	0.2	[{'connected_gene': 'ACO1', 'score': 9.63}, {'connected_gene': 'DDX58', 'score': 5.08}, {'connected_gene': 'TOPORS', 'score': 4.69}, {'connected_gene': 'LOC105376014', 'score': 0.2}]
chr9	GH09I032411	32411904	32418266	0.38	[{'connected_gene': 'ACO1', 'score': 21.97}, {'connected_gene': 'LOC105376014', 'score': 0.28}]
chr9	GH09I032386	32386239	32386283	0.63	[{'connected_gene': 'ACO1', 'score': 550.77}, {'connected_gene': 'LOC105376014', 'score': 0.2}]
chr9	GH09I032420	32420806	32421982	0.2	[{'connected_gene': 'ACO1', 'score': 12.39}, {'connected_gene': 'LOC105376014', 'score': 0.29}]
chr9	GH09I032382	32382259	32385601	2.15	[{'connected_gene': 'ACO1', 'score': 560.0}, {'connected_gene': 'TOPORS', 'score': 21.01}, {'connected_gene': 'ASS1P12', 'score': 14.35}, {'connected_gene': 'SMU1', 'score': 14.13}, {'connected_gene': 'DFFBP1', 'score': 13.82}, {'connected_gene': 'NDUFB6', 'score': 12.61}, {'connected_gene': 'NFX1', 'score': 11.39}, {'connected_gene': 'TCEA1P4', 'score': 10.28}, {'connected_gene': 'ENSG00000223440', 'score': 10.16}, {'connected_gene': 'SLC25A5P8', 'score': 0.25}]
chr9	GH09I032378	32378518	32379000	0.96	[{'connected_gene': 'NDUFB6', 'score': 12.6}, {'connected_gene': 'ACO1', 'score': 5.26}, {'connected_gene': 'SLC25A5P8', 'score': 0.26}]
chr9	GH09I032379	32379201	32379601	1.07	[{'connected_gene': 'NDUFB6', 'score': 12.6}, {'connected_gene': 'ACO1', 'score': 6.55}, {'connected_gene': 'SLC25A5P8', 'score': 0.26}]
chr9	GH09I032351	32351963	32352112	0.46	[{'connected_gene': 'SLC25A5P8', 'score': 0.37}, {'connected_gene': 'ACO1', 'score': 0.29}]
chr9	GH09I032433	32433833	32436304	0.2	[{'connected_gene': 'DDX58', 'score': 15.18}, {'connected_gene': 'ACO1', 'score': 12.24}, {'connected_gene': 'TMEM215', 'score': 8.89}, {'connected_gene': 'LOC105376014', 'score': 0.37}]
chr9	GH09I032523	32523525	32527799	2.23	[{'connected_gene': 'DDX58', 'score': 572.09}, {'connected_gene': 'NDUFB6', 'score': 11.49}, {'connected_gene': 'ACO1', 'score': 10.28}, {'connected_gene': 'NFX1', 'score': 5.73}, {'connected_gene': 'LOC101060445', 'score': 0.2}]
chr9	GH09I032443	32443272	32443463	0.24	[{'connected_gene': 'DDX58', 'score': 4.91}, {'connected_gene': 'TOPORS', 'score': 1.71}, {'connected_gene': 'LOC105376014', 'score': 0.39}, {'connected_gene': 'ACO1', 'score': 0.22}]
chr9	GH09I032453	32453280	32457015	0.74	[{'connected_gene': 'LOC105376014', 'score': 550.77}, {'connected_gene': 'PIR32057', 'score': 550.77}, {'connected_gene': 'DDX58', 'score': 15.44}, {'connected_gene': 'ACO1', 'score': 7.45}]
chr9	GH09I032404	32404503	32405307	0.66	[{'connected_gene': 'TOPORS', 'score': 16.08}, {'connected_gene': 'DDX58', 'score': 12.0}, {'connected_gene': 'SMIM27', 'score': 11.99}, {'connected_gene': 'ACO1', 'score': 9.73}, {'connected_gene': 'LOC105376014', 'score': 0.23}]