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
ENST00000322002	[[5832798, 5841516]]	[[5832853, 5834179]]
NM_003108	[[5832798, 5841517]]	[[5832853, 5834179]]

Promoter

Chrom	Start	End	Description
chr2	5832437	5832439	CAGE_peak_6_at_SOX11_5end
chr2	5832493	5832507	CAGE_peak_2_at_SOX11_5end
chr2	5832508	5832524	CAGE_peak_1_at_SOX11_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr2	GH02I006073	6073217	6074674	0.66	[{'connected_gene': 'SOX11', 'score': 26.15}, {'connected_gene': 'GC02P006145', 'score': 0.2}, {'connected_gene': 'LOC400940', 'score': 0.16}]
chr2	GH02I006071	6071825	6072181	0.22	[{'connected_gene': 'SOX11', 'score': 1.78}, {'connected_gene': 'GC02P006145', 'score': 0.19}, {'connected_gene': 'LOC400940', 'score': 0.16}]
chr2	GH02I005076	5076571	5078510	0.43	[{'connected_gene': 'SOX11', 'score': 9.35}, {'connected_gene': 'GC02M005088', 'score': 0.39}, {'connected_gene': 'RNU6-649P', 'score': 0.12}]
chr2	GH02I005064	5064454	5065537	0.2	[{'connected_gene': 'SOX11', 'score': 7.46}, {'connected_gene': 'GC02M005088', 'score': 0.31}, {'connected_gene': 'RNU6-649P', 'score': 0.13}]
chr2	GH02I005689	5689702	5698395	2.22	[{'connected_gene': 'GC02P005693', 'score': 550.77}, {'connected_gene': 'GC02P005692', 'score': 550.77}, {'connected_gene': 'SOX11', 'score': 550.77}, {'connected_gene': 'ENSG00000230090', 'score': 6.11}, {'connected_gene': 'ENSG00000242540', 'score': 0.77}, {'connected_gene': 'LINC01248', 'score': 0.77}, {'connected_gene': 'GC02M005657', 'score': 0.08}]
chr2	GH02I005725	5725097	5726740	1.19	[{'connected_gene': 'ENSG00000236106', 'score': 550.77}, {'connected_gene': 'ENSG00000242540', 'score': 11.55}, {'connected_gene': 'ENSG00000230090', 'score': 11.53}, {'connected_gene': 'LINC01248', 'score': 11.53}, {'connected_gene': 'SOX11', 'score': 11.53}, {'connected_gene': 'GC02M005657', 'score': 0.1}]