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
ENST00000366932	[[218458628, 218458797], [218475635, 218475901], [218478369, 218478467], [218480772, 218480974], [218504289, 218511325]]	[[218458658, 218458797], [218475635, 218475901], [218478369, 218478467], [218480772, 218480974], [218504289, 218504433]]
ENST00000491428	[[218458683, 218458797], [218475635, 218476013]]	None
NM_016052	[[218458628, 218458797], [218475635, 218475901], [218478369, 218478467], [218480772, 218480974], [218504289, 218511325]]	[[218458658, 218458797], [218475635, 218475901], [218478369, 218478467], [218480772, 218480974], [218504289, 218504433]]

Promoter

Chrom	Start	End	Description
chr1	218458625	218458660	CAGE_peak_1_at_RRP15_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I218299	218299400	218299800	0.82	[{'connected_gene': 'TGFB2-AS1', 'score': 10.73}, {'connected_gene': 'TGFB2', 'score': 10.73}, {'connected_gene': 'GC01M218293', 'score': 0.77}, {'connected_gene': 'ENSG00000229016', 'score': 0.77}, {'connected_gene': 'RRP15', 'score': 0.39}]
chr1	GH01I218273	218273713	218275096	0.38	[{'connected_gene': 'TGFB2-AS1', 'score': 9.73}, {'connected_gene': 'TGFB2', 'score': 9.73}, {'connected_gene': 'RRP15', 'score': 0.39}, {'connected_gene': 'GC01P218234', 'score': 0.28}]
chr1	GH01I218367	218366719	218366868	0.96	[{'connected_gene': 'TGFB2-AS1', 'score': 11.91}, {'connected_gene': 'TGFB2', 'score': 11.91}, {'connected_gene': 'C1orf143', 'score': 10.59}, {'connected_gene': 'RRP15', 'score': 10.06}, {'connected_gene': 'GC01M218380', 'score': 0.37}]
chr1	GH01I218366	218366876	218367912	1	[{'connected_gene': 'TGFB2-AS1', 'score': 11.91}, {'connected_gene': 'TGFB2', 'score': 11.91}, {'connected_gene': 'C1orf143', 'score': 10.59}, {'connected_gene': 'RRP15', 'score': 10.06}, {'connected_gene': 'GC01M218380', 'score': 0.37}]
chr1	GH01I218368	218368799	218368948	0.4	[{'connected_gene': 'TGFB2-AS1', 'score': 11.91}, {'connected_gene': 'TGFB2', 'score': 11.91}, {'connected_gene': 'C1orf143', 'score': 10.59}, {'connected_gene': 'RRP15', 'score': 10.06}, {'connected_gene': 'GC01M218380', 'score': 0.39}]
chr1	GH01I218344	218344523	218354398	2.86	[{'connected_gene': 'TGFB2', 'score': 550.77}, {'connected_gene': 'RRP15', 'score': 20.6}, {'connected_gene': 'TGFB2-AS1', 'score': 7.44}, {'connected_gene': 'GC01M218380', 'score': 0.29}]
chr1	GH01I218472	218472967	218483446	1.49	[{'connected_gene': 'TGFB2', 'score': 24.93}, {'connected_gene': 'C1orf143', 'score': 11.24}, {'connected_gene': 'TGFB2-AS1', 'score': 10.81}, {'connected_gene': 'RRP15', 'score': 9.86}, {'connected_gene': 'GC01P218475', 'score': 0.77}, {'connected_gene': 'GC01P218504', 'score': 0.31}]
chr1	GH01I218369	218369292	218373171	1.09	[{'connected_gene': 'RRP15', 'score': 18.49}, {'connected_gene': 'TGFB2-AS1', 'score': 11.89}, {'connected_gene': 'TGFB2', 'score': 11.89}, {'connected_gene': 'C1orf143', 'score': 10.6}, {'connected_gene': 'GC01M218380', 'score': 0.39}]
chr1	GH01I218373	218373573	218378133	1.63	[{'connected_gene': 'RRP15', 'score': 17.06}, {'connected_gene': 'TGFB2-AS1', 'score': 11.59}, {'connected_gene': 'TGFB2', 'score': 11.59}, {'connected_gene': 'C1orf143', 'score': 10.84}, {'connected_gene': 'GC01M218380', 'score': 0.44}]
chr1	GH01I218363	218363459	218365601	1	[{'connected_gene': 'RRP15', 'score': 11.2}, {'connected_gene': 'C1orf143', 'score': 10.71}, {'connected_gene': 'GC01M218380', 'score': 0.37}, {'connected_gene': 'TGFB2-AS1', 'score': 0.37}, {'connected_gene': 'TGFB2', 'score': 0.37}]
chr1	GH01I218486	218485679	218485808	0.66	[{'connected_gene': 'RRP15', 'score': 16.69}, {'connected_gene': 'C1orf143', 'score': 12.81}, {'connected_gene': 'GC01P218475', 'score': 0.39}, {'connected_gene': 'GC01P218504', 'score': 0.37}]
chr1	GH01I218485	218485950	218486986	0.52	[{'connected_gene': 'RRP15', 'score': 16.69}, {'connected_gene': 'C1orf143', 'score': 12.81}, {'connected_gene': 'GC01P218475', 'score': 0.39}, {'connected_gene': 'GC01P218504', 'score': 0.37}]
chr1	GH01I218330	218330001	218330401	0.65	[{'connected_gene': 'RRP15', 'score': 10.36}, {'connected_gene': 'RPS26P17', 'score': 0.44}, {'connected_gene': 'GC01P218307', 'score': 0.34}]
chr1	GH01I218335	218335909	218337138	0.94	[{'connected_gene': 'RRP15', 'score': 15.74}, {'connected_gene': 'RPS26P17', 'score': 0.77}, {'connected_gene': 'GC01P218307', 'score': 0.31}]
chr1	GH01I218208	218208939	218210577	0.68	[{'connected_gene': 'RRP15', 'score': 4.46}, {'connected_gene': 'GC01P218234', 'score': 0.31}, {'connected_gene': 'LOC105372923', 'score': 0.26}]
chr1	GH01I219119	219119979	219122253	1.13	[{'connected_gene': 'RRP15', 'score': 11.71}, {'connected_gene': 'RIMKLBP2', 'score': 10.88}, {'connected_gene': 'LYPLAL1-AS1', 'score': 5.09}, {'connected_gene': 'GC01M219124', 'score': 0.39}, {'connected_gene': 'GC01P219093', 'score': 0.31}]
chr1	GH01I218284	218284401	218286618	2.12	[{'connected_gene': 'RRP15', 'score': 604.07}, {'connected_gene': 'RIMKLBP2', 'score': 11.5}, {'connected_gene': 'GC01M218293', 'score': 0.44}]
chr1	GH01I219173	219173111	219176741	2.28	[{'connected_gene': 'LYPLAL1', 'score': 550.77}, {'connected_gene': 'LYPLAL1-AS1', 'score': 550.77}, {'connected_gene': 'RRP15', 'score': 12.61}, {'connected_gene': 'GC01M219200', 'score': 0.31}]
chr1	GH01I218302	218302504	218303212	0.6	[{'connected_gene': 'ENSG00000229016', 'score': 550.77}, {'connected_gene': 'TGFB2-AS1', 'score': 10.74}, {'connected_gene': 'TGFB2', 'score': 10.74}, {'connected_gene': 'GC01P218307', 'score': 0.77}, {'connected_gene': 'RRP15', 'score': 0.37}]
chr1	GH01I218379	218379567	218382393	1.26	[{'connected_gene': 'GC01M218380', 'score': 550.77}, {'connected_gene': 'TGFB2-AS1', 'score': 11.52}, {'connected_gene': 'TGFB2', 'score': 11.52}, {'connected_gene': 'RRP15', 'score': 4.52}]
chr1	GH01I218295	218295243	218295772	0.31	[{'connected_gene': 'GC01M218293', 'score': 550.77}, {'connected_gene': 'TGFB2', 'score': 10.09}, {'connected_gene': 'TGFB2-AS1', 'score': 10.08}, {'connected_gene': 'ENSG00000229016', 'score': 0.44}, {'connected_gene': 'RRP15', 'score': 0.39}]
chr1	GH01I218301	218301414	218302322	0.6	[{'connected_gene': 'ENSG00000229016', 'score': 550.77}, {'connected_gene': 'RRP15', 'score': 15.57}, {'connected_gene': 'TGFB2-AS1', 'score': 10.74}, {'connected_gene': 'TGFB2', 'score': 10.74}, {'connected_gene': 'GC01M218293', 'score': 0.44}]
chr1	GH01I218241	218241222	218241443	0.4	[{'connected_gene': 'GC01P218234', 'score': 0.44}, {'connected_gene': 'RRP15', 'score': 0.26}]
chr1	GH01I218242	218241475	218241816	0.4	[{'connected_gene': 'GC01P218234', 'score': 0.44}, {'connected_gene': 'RRP15', 'score': 0.26}]
chr1	GH01I218254	218254016	218255647	0.6	[{'connected_gene': 'GC01P218234', 'score': 0.37}, {'connected_gene': 'RRP15', 'score': 0.29}]
chr1	GH01I218304	218304294	218305802	0.96	[{'connected_gene': 'GC01P218307', 'score': 0.77}, {'connected_gene': 'ENSG00000229016', 'score': 0.77}, {'connected_gene': 'RRP15', 'score': 0.37}]