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
ENST00000372101	[[108866928, 108868393]]	[[108867820, 108868249]]
NM_012282	[[108866928, 108868397]]	[[108867820, 108868249]]

Promoter

Chrom	Start	End	Description
chrX	108868390	108868407	CAGE_peak_1_at_KCNE1L_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chrX	GH0XI109536	109536123	109538416	2.05	[{'connected_gene': 'NXT2', 'score': 550.77}, {'connected_gene': 'KCNE5', 'score': 19.41}, {'connected_gene': 'AMMECR1', 'score': 9.72}, {'connected_gene': 'ACSL4', 'score': 3.96}, {'connected_gene': 'PIR59920', 'score': 0.34}]
chrX	GH0XI109535	109535775	109535834	0.61	[{'connected_gene': 'NXT2', 'score': 550.77}, {'connected_gene': 'KCNE5', 'score': 11.92}, {'connected_gene': 'ACSL4', 'score': 4.0}, {'connected_gene': 'PIR59920', 'score': 0.34}]
chrX	GH0XI109623	109623698	109625632	1.31	[{'connected_gene': 'KCNE5', 'score': 558.03}, {'connected_gene': 'TMEM164', 'score': 4.26}, {'connected_gene': 'LOC441511', 'score': 0.22}, {'connected_gene': 'ACSL4', 'score': 0.14}]
chrX	GH0XI109600	109600201	109600600	0.31	[{'connected_gene': 'KCNE5', 'score': 21.11}, {'connected_gene': 'NXT2', 'score': 13.1}, {'connected_gene': 'LOC441511', 'score': 0.29}]
chrX	GH0XI109475	109475201	109476000	0.82	[{'connected_gene': 'KCNE5', 'score': 12.25}, {'connected_gene': 'GUCY2F', 'score': 0.44}, {'connected_gene': 'ENSG00000215000', 'score': 0.12}]