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
ENST00000304863	[[29698172, 29699065], [29703811, 29704448]]	[[29698454, 29699065], [29703811, 29704025]]
NM_006003	[[29698166, 29699065], [29703811, 29704136]]	[[29698454, 29699065], [29703811, 29704025]]

Promoter

Chrom	Start	End	Description
chr19	29704017	29704086	CAGE_peak_1_at_UQCRFS1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I029211	29211296	29214027	2.01	[{'connected_gene': 'UQCRFS1', 'score': 556.76}, {'connected_gene': 'LOC105372352', 'score': 555.8}, {'connected_gene': 'PIR40426', 'score': 550.77}, {'connected_gene': 'GC19M029213', 'score': 550.77}, {'connected_gene': 'ENSG00000266910', 'score': 15.44}, {'connected_gene': 'RPL9P32', 'score': 11.8}, {'connected_gene': 'POP4', 'score': 10.39}]
chr19	GH19I029264	29263794	29263943	0.65	[{'connected_gene': 'ENSG00000266910', 'score': 11.33}, {'connected_gene': 'UQCRFS1', 'score': 11.21}, {'connected_gene': 'GC19M029264', 'score': 0.39}, {'connected_gene': 'RN7SL340P', 'score': 0.29}]
chr19	GH19I029263	29263474	29263703	0.66	[{'connected_gene': 'ENSG00000266910', 'score': 11.33}, {'connected_gene': 'UQCRFS1', 'score': 11.21}, {'connected_gene': 'GC19M029264', 'score': 0.39}, {'connected_gene': 'RN7SL340P', 'score': 0.29}]