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
ENST00000299191	[[49407733, 49408000], [49411641, 49411761], [49412380, 49412504], [49430333, 49430589], [49433041, 49433342]]	[[49407850, 49408000], [49411641, 49411761], [49412380, 49412504], [49430333, 49430589], [49433041, 49433189]]
NM_144602	[[49407718, 49408000], [49411641, 49411761], [49412380, 49412504], [49430333, 49430589], [49433041, 49433342]]	[[49407850, 49408000], [49411641, 49411761], [49412380, 49412504], [49430333, 49430589], [49433041, 49433189]]

Promoter

Chrom	Start	End	Description
chr16	49407710	49407720	CAGE_peak_1_at_C16orf78_5end
chr16	49407782	49407787	CAGE_peak_3_at_C16orf78_5end
chr16	49407802	49407809	CAGE_peak_2_at_C16orf78_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr16	GH16I049281	49281490	49282601	2.1	[{'connected_gene': 'CBLN1', 'score': 599.35}, {'connected_gene': 'LOC102724859', 'score': 550.77}, {'connected_gene': 'C16orf78', 'score': 1.34}]
chr16	GH16I049383	49383050	49383199	0.38	[{'connected_gene': 'C16orf78', 'score': 0.44}, {'connected_gene': 'GC16P049397', 'score': 0.39}, {'connected_gene': 'LOC105371244', 'score': 0.19}]
chr16	GH16I049366	49366822	49369135	0.46	[{'connected_gene': 'C16orf78', 'score': 0.44}, {'connected_gene': 'ENSG00000279249', 'score': 0.31}]
chr16	GH16I049373	49373755	49373814	0.5	[{'connected_gene': 'C16orf78', 'score': 550.77}, {'connected_gene': 'ENSG00000279249', 'score': 0.29}]
chr16	GH16I049369	49369710	49369779	0.2	[{'connected_gene': 'C16orf78', 'score': 0.77}, {'connected_gene': 'ENSG00000279249', 'score': 0.31}]
chr16	GH16I049122	49122752	49122884	0.22	[{'connected_gene': 'LOC105371241', 'score': 550.77}, {'connected_gene': 'C16orf78', 'score': 10.08}, {'connected_gene': 'ENSG00000261421', 'score': 0.28}]
chr16	GH16I049353	49353050	49353199	0.46	[{'connected_gene': 'ENSG00000279249', 'score': 0.39}, {'connected_gene': 'C16orf78', 'score': 0.34}]