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
ENST00000302118	[[55505220, 55505717], [55509515, 55509707], [55512195, 55512319], [55517950, 55518084], [55518322, 55518464], [55521665, 55521862], [55523003, 55523187], [55523708, 55523882], [55524171, 55524320], [55525158, 55525336], [55527047, 55527229], [55529041, 55530525]]	[[55505510, 55505717], [55509515, 55509707], [55512195, 55512319], [55517950, 55518084], [55518322, 55518464], [55521665, 55521862], [55523003, 55523187], [55523708, 55523882], [55524171, 55524320], [55525158, 55525336], [55527047, 55527229], [55529041, 55529257]]
ENST00000452118	[[55505430, 55505717], [55509515, 55509707], [55512195, 55512319], [55516864, 55517126], [55517950, 55518084], [55518322, 55518424]]	[[55505510, 55505717], [55509515, 55509707], [55512195, 55512319], [55516864, 55516959]]
ENST00000543384	[[55505894, 55506076], [55517950, 55518084], [55518322, 55518464], [55521665, 55521862], [55523003, 55523187], [55523708, 55523830], [55524171, 55524320], [55525158, 55525336], [55527047, 55527229], [55529041, 55529112]]	[[55518027, 55518084], [55518322, 55518464], [55521665, 55521862], [55523003, 55523187], [55523708, 55523830], [55524171, 55524270]]
ENST00000490692	[[55516606, 55518084], [55518322, 55518464], [55521665, 55521862], [55523100, 55523187], [55523708, 55523882], [55524171, 55524320], [55527047, 55527229], [55529041, 55530523]]	None
NM_174936	[[55505148, 55505717], [55509515, 55509707], [55512195, 55512319], [55517950, 55518084], [55518322, 55518464], [55521665, 55521862], [55523003, 55523187], [55523708, 55523882], [55524171, 55524320], [55525158, 55525336], [55527047, 55527229], [55529041, 55530526]]	[[55505510, 55505717], [55509515, 55509707], [55512195, 55512319], [55517950, 55518084], [55518322, 55518464], [55521665, 55521862], [55523003, 55523187], [55523708, 55523882], [55524171, 55524320], [55525158, 55525336], [55527047, 55527229], [55529041, 55529257]]
NR_110451	[[55505894, 55506076], [55517950, 55518084], [55518322, 55518464], [55521665, 55521862], [55523003, 55523187], [55523708, 55523830], [55524171, 55524320], [55525158, 55525336], [55527047, 55527229], [55529041, 55530526]]	None

Promoter

Chrom	Start	End	Description
chr1	55505132	55505142	CAGE_peak_3_at_PCSK9_5end
chr1	55505184	55505247	CAGE_peak_1_at_PCSK9_5end
chr1	55505258	55505275	CAGE_peak_2_at_PCSK9_5end
chr1	55505693	55505698	CAGE_peak_7_at_PCSK9_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I055054	55054349	55056193	0.43	[{'connected_gene': 'PCSK9', 'score': 6.56}, {'connected_gene': 'USP24', 'score': 6.0}, {'connected_gene': 'GC01P055065', 'score': 0.39}]
chr1	GH01I055021	55021668	55022720	1.12	[{'connected_gene': 'PCSK9', 'score': 22.21}, {'connected_gene': 'TMEM61', 'score': 11.19}, {'connected_gene': 'GC01M055004', 'score': 0.37}, {'connected_gene': 'PIR32788', 'score': 0.37}]
chr1	GH01I055038	55038522	55041475	1.87	[{'connected_gene': 'PCSK9', 'score': 550.77}, {'connected_gene': 'TMEM61', 'score': 11.25}, {'connected_gene': 'GC01P055065', 'score': 0.31}]
chr1	GH01I055061	55060937	55063071	0.49	[{'connected_gene': 'USP24', 'score': 12.03}, {'connected_gene': 'GC01P055065', 'score': 0.77}, {'connected_gene': 'PCSK9', 'score': 0.34}]
chr1	GH01I055007	55007748	55007917	0.2	[{'connected_gene': 'TMEM61', 'score': 12.0}, {'connected_gene': 'GC01M055004', 'score': 0.44}, {'connected_gene': 'PIR32788', 'score': 0.44}, {'connected_gene': 'BSND', 'score': 0.44}, {'connected_gene': 'PCSK9', 'score': 0.29}]
chr1	GH01I055025	55025801	55026200	0.43	[{'connected_gene': 'TMEM61', 'score': 10.98}, {'connected_gene': 'PCSK9', 'score': 0.39}, {'connected_gene': 'GC01M055004', 'score': 0.34}, {'connected_gene': 'PIR32788', 'score': 0.34}]
chr1	GH01I055065	55065000	55065237	0.77	[{'connected_gene': 'GC01M055068', 'score': 550.77}, {'connected_gene': 'GC01P055065', 'score': 550.77}, {'connected_gene': 'GC01M055067', 'score': 550.77}, {'connected_gene': 'PCSK9', 'score': 0.31}]
chr1	GH01I055060	55060830	55060876	0.2	[{'connected_gene': 'GC01P055065', 'score': 0.77}, {'connected_gene': 'PCSK9', 'score': 0.34}]
chr1	GH01I055064	55064108	55064600	0.69	[{'connected_gene': 'GC01P055065', 'score': 550.77}, {'connected_gene': 'USP24', 'score': 13.27}, {'connected_gene': 'PCSK9', 'score': 0.34}]