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
ENST00000371873	[[47799468, 47799788], [47834140, 47834287], [47838626, 47838779], [47840580, 47840657], [47840868, 47840965], [47842375, 47844511]]	[[47799617, 47799788], [47834140, 47834287], [47838626, 47838779], [47840580, 47840657], [47840868, 47840965], [47842375, 47842417]]
ENST00000371871	[[47799480, 47799788], [47834140, 47834287], [47838626, 47838779], [47840868, 47840965], [47842375, 47842882]]	[[47799617, 47799788], [47834140, 47834287], [47838626, 47838779], [47840868, 47840907]]
ENST00000450808	[[47799585, 47799788], [47838626, 47838779], [47840580, 47840657], [47840868, 47840965], [47842375, 47842795]]	[[47799617, 47799788], [47838626, 47838779], [47840580, 47840657], [47840868, 47840965], [47842375, 47842417]]
ENST00000471289	[[47799550, 47799788], [47823969, 47824547]]	[[47799617, 47799788], [47823969, 47823975]]
ENST00000371870	[[47799612, 47799788], [47834140, 47834287], [47838626, 47839115]]	None
NM_001136140	[[47799468, 47799788], [47838626, 47838779], [47840580, 47840657], [47840868, 47840965], [47842375, 47844511]]	[[47799617, 47799788], [47838626, 47838779], [47840580, 47840657], [47840868, 47840965], [47842375, 47842417]]
NR_046394	[[47799468, 47799788], [47834140, 47834287], [47838626, 47838779], [47840868, 47840965], [47842375, 47844511]]	None
NM_016308	[[47799468, 47799788], [47834140, 47834287], [47838626, 47838779], [47840580, 47840657], [47840868, 47840965], [47842375, 47844511]]	[[47799617, 47799788], [47834140, 47834287], [47838626, 47838779], [47840580, 47840657], [47840868, 47840965], [47842375, 47842417]]
NR_046395	[[47799468, 47799788], [47823969, 47824547]]	None

Promoter

Chrom	Start	End	Description
chr1	47799446	47799493	CAGE_peak_1_at_CMPK1_5end
chr1	47799542	47799624	CAGE_peak_2_at_CMPK1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I047431	47431450	47434800	1.19	[{'connected_gene': 'FOXD2-AS1', 'score': 550.77}, {'connected_gene': 'CMPK1', 'score': 8.66}, {'connected_gene': 'LINC01389', 'score': 0.77}, {'connected_gene': 'GC01M047414', 'score': 0.39}]
chr1	GH01I047253	47253511	47254946	0.72	[{'connected_gene': 'TAL1', 'score': 12.44}, {'connected_gene': 'ENSG00000226252', 'score': 12.42}, {'connected_gene': 'CMPK1', 'score': 11.96}, {'connected_gene': 'LINC00853', 'score': 11.03}, {'connected_gene': 'CYP4A22-AS1', 'score': 11.03}, {'connected_gene': 'FOXD2-AS1', 'score': 9.64}, {'connected_gene': 'FOXD2', 'score': 9.64}, {'connected_gene': 'GC01M047285', 'score': 0.29}, {'connected_gene': 'STIL', 'score': 0.21}]
chr1	GH01I047312	47312493	47315585	2.27	[{'connected_gene': 'STIL', 'score': 550.77}, {'connected_gene': 'EFCAB14-AS1', 'score': 34.66}, {'connected_gene': 'NSUN4', 'score': 20.61}, {'connected_gene': 'MOB3C', 'score': 20.33}, {'connected_gene': 'CMPK1', 'score': 13.1}, {'connected_gene': 'ENSG00000272491', 'score': 11.49}, {'connected_gene': 'LINC01389', 'score': 10.82}, {'connected_gene': 'FOXE3', 'score': 6.48}, {'connected_gene': 'GC01M047303', 'score': 0.44}]
chr1	GH01I047252	47252433	47252753	0.53	[{'connected_gene': 'CMPK1', 'score': 15.85}, {'connected_gene': 'TAL1', 'score': 12.44}, {'connected_gene': 'ENSG00000226252', 'score': 12.42}, {'connected_gene': 'LINC00853', 'score': 11.03}, {'connected_gene': 'CYP4A22-AS1', 'score': 11.03}, {'connected_gene': 'FOXD2-AS1', 'score': 9.65}, {'connected_gene': 'FOXD2', 'score': 9.65}, {'connected_gene': 'GC01M047285', 'score': 0.29}, {'connected_gene': 'STIL', 'score': 0.21}]
chr1	GH01I047408	47408324	47410495	0.62	[{'connected_gene': 'CMPK1', 'score': 8.73}, {'connected_gene': 'CYP4X1', 'score': 4.48}, {'connected_gene': 'FOXE3', 'score': 0.44}, {'connected_gene': 'GC01M047395', 'score': 0.39}, {'connected_gene': 'LINC01389', 'score': 0.31}, {'connected_gene': 'GC01P047350', 'score': 0.22}]
chr1	GH01I047332	47332179	47336398	2.53	[{'connected_gene': 'CMPK1', 'score': 563.39}, {'connected_gene': 'ENSG00000226252', 'score': 16.74}, {'connected_gene': 'FOXE3', 'score': 16.2}, {'connected_gene': 'TAL1', 'score': 11.51}, {'connected_gene': 'LINC01389', 'score': 10.08}, {'connected_gene': 'PDZK1IP1', 'score': 6.51}, {'connected_gene': 'FOXD2', 'score': 4.62}, {'connected_gene': 'GC01P047350', 'score': 0.37}]
chr1	GH01I047441	47441320	47442378	0.46	[{'connected_gene': 'CMPK1', 'score': 8.29}, {'connected_gene': 'GC01M047436', 'score': 0.77}, {'connected_gene': 'ENSG00000271355', 'score': 0.26}]
chr1	GH01I046549	46549229	46550425	0.6	[{'connected_gene': 'KNCN', 'score': 550.77}, {'connected_gene': 'MKNK1', 'score': 8.06}, {'connected_gene': 'CMPK1', 'score': 4.45}, {'connected_gene': 'MKNK1-AS1', 'score': 0.39}]
chr1	GH01I047436	47436049	47438601	1.76	[{'connected_gene': 'LINC01389', 'score': 556.84}, {'connected_gene': 'GC01M047436', 'score': 550.77}, {'connected_gene': 'FOXD2', 'score': 550.77}, {'connected_gene': 'CMPK1', 'score': 8.46}]
chr1	GH01I047211	47211339	47214008	1.54	[{'connected_gene': 'PDZK1IP1', 'score': 23.82}, {'connected_gene': 'TAL1', 'score': 6.62}, {'connected_gene': 'CMPK1', 'score': 4.44}, {'connected_gene': 'GC01M047220', 'score': 0.39}]
chr1	GH01I047351	47351041	47352118	0.76	[{'connected_gene': 'GC01P047350', 'score': 550.77}, {'connected_gene': 'STIL', 'score': 5.69}, {'connected_gene': 'FOXE3', 'score': 5.14}, {'connected_gene': 'CMPK1', 'score': 0.37}, {'connected_gene': 'GC01M047395', 'score': 0.26}]
chr1	GH01I047322	47322926	47326486	0.85	[{'connected_gene': 'GC01M047322', 'score': 550.77}, {'connected_gene': 'ENSG00000226252', 'score': 15.77}, {'connected_gene': 'CMPK1', 'score': 14.13}, {'connected_gene': 'TAL1', 'score': 11.04}, {'connected_gene': 'LINC00853', 'score': 10.15}, {'connected_gene': 'CYP4A22-AS1', 'score': 10.15}, {'connected_gene': 'FOXE3', 'score': 5.68}, {'connected_gene': 'GC01P047330', 'score': 0.44}]