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
ENST00000377814	[[73302060, 73302145], [73305418, 73305525], [73309097, 73309143], [73312099, 73312181], [73317674, 73317740], [73318642, 73318699], [73319118, 73319317]]	[[73302060, 73302145], [73305418, 73305525], [73309097, 73309143], [73312099, 73312181], [73317674, 73317740], [73318642, 73318699], [73319118, 73319317]]
ENST00000377815	[[73302060, 73302145], [73303063, 73303231], [73309097, 73309143], [73312099, 73312181], [73317674, 73317740], [73318642, 73318699], [73319118, 73319345], [73320081, 73320214], [73320638, 73321249], [73327827, 73327959], [73329288, 73329466]]	[[73303181, 73303231], [73309097, 73309143], [73312099, 73312181], [73317674, 73317740], [73318642, 73318699], [73319118, 73319345], [73320081, 73320214], [73320638, 73321249], [73327827, 73327959], [73329288, 73329354]]
ENST00000471712	[[73302062, 73302145], [73303063, 73303231], [73309097, 73309143], [73312099, 73312181], [73317674, 73317740], [73318642, 73318699], [73319118, 73319183]]	None
ENST00000390667	[[73302063, 73302145], [73303063, 73303231], [73305418, 73305525], [73309097, 73309143], [73312099, 73312181], [73317674, 73317740], [73318642, 73318699], [73319118, 73319345], [73320081, 73320214], [73320638, 73321249], [73327827, 73327959], [73329288, 73330336]]	[[73303078, 73303231], [73305418, 73305525], [73309097, 73309143], [73312099, 73312181], [73317674, 73317740], [73318642, 73318699], [73319118, 73319345], [73320081, 73320214], [73320638, 73321249], [73327827, 73327959], [73329288, 73329354]]
ENST00000464754	[[73302065, 73302145], [73303063, 73303231], [73305418, 73305525], [73312099, 73312181], [73317674, 73317740], [73318642, 73318699], [73319118, 73319274]]	None
NM_001286747	[[73301886, 73302145], [73303063, 73303231], [73309097, 73309143], [73312099, 73312181], [73317674, 73317740], [73318642, 73318699], [73319118, 73319345], [73320081, 73320214], [73320638, 73321249], [73327827, 73327959], [73329288, 73330336]]	[[73303181, 73303231], [73309097, 73309143], [73312099, 73312181], [73317674, 73317740], [73318642, 73318699], [73319118, 73319345], [73320081, 73320214], [73320638, 73321249], [73327827, 73327959], [73329288, 73329354]]
NM_024808	[[73301886, 73302145], [73303063, 73303231], [73305418, 73305525], [73309097, 73309143], [73312099, 73312181], [73317674, 73317740], [73318642, 73318699], [73319118, 73319345], [73320081, 73320214], [73320638, 73321249], [73327827, 73327959], [73329288, 73330336]]	[[73301980, 73302145], [73303063, 73303231], [73305418, 73305525], [73309097, 73309143], [73312099, 73312181], [73317674, 73317740], [73318642, 73318699], [73319118, 73319345], [73320081, 73320214], [73320638, 73321249], [73327827, 73327959], [73329288, 73329354]]
NM_001286746	[[73302041, 73302398], [73303063, 73303231], [73305418, 73305525], [73309097, 73309143], [73312099, 73312181], [73317674, 73317740], [73318642, 73318699], [73319118, 73319345], [73320081, 73320214], [73320638, 73321249], [73327827, 73327959], [73329288, 73330336]]	[[73302188, 73302398], [73303063, 73303231], [73305418, 73305525], [73309097, 73309143], [73312099, 73312181], [73317674, 73317740], [73318642, 73318699], [73319118, 73319345], [73320081, 73320214], [73320638, 73321249], [73327827, 73327959], [73329288, 73329354]]

Promoter

Chrom	Start	End	Description
chr13	73302039	73302044	CAGE_peak_3_at_BORA_5end
chr13	73302047	73302073	CAGE_peak_1_at_BORA_5end
chr13	73302082	73302095	CAGE_peak_2_at_BORA_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr13	GH13I072726	72726363	72729523	2.04	[{'connected_gene': 'BORA', 'score': 572.19}, {'connected_gene': 'MZT1', 'score': 558.82}, {'connected_gene': 'DIS3', 'score': 11.97}, {'connected_gene': 'PIBF1', 'score': 6.28}]
chr13	GH13I073039	73039073	73042394	0.96	[{'connected_gene': 'BORA', 'score': 9.81}, {'connected_gene': 'PIBF1', 'score': 5.43}, {'connected_gene': 'PSMD10P3', 'score': 0.77}, {'connected_gene': 'KLF5', 'score': 0.39}]
chr13	GH13I073054	73054138	73077711	2.43	[{'connected_gene': 'KLF5', 'score': 557.7}, {'connected_gene': 'DIS3', 'score': 23.54}, {'connected_gene': 'BORA', 'score': 20.45}, {'connected_gene': 'RNU4-10P', 'score': 10.72}, {'connected_gene': 'FABP5P1', 'score': 0.28}]
chr13	GH13I072970	72970083	72971902	0.65	[{'connected_gene': 'DIS3', 'score': 26.97}, {'connected_gene': 'PIBF1', 'score': 18.02}, {'connected_gene': 'BORA', 'score': 13.07}, {'connected_gene': 'GC13M072950', 'score': 0.37}, {'connected_gene': 'PSMD10P3', 'score': 0.2}]