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
ENST00000381848	[[4522542, 4524097], [4524974, 4525088], [4525644, 4525844], [4529084, 4529265], [4529795, 4529878], [4531638, 4531834], [4534026, 4534107], [4535176, 4535236]]	[[4523539, 4524097], [4524974, 4525088], [4525644, 4525844], [4529084, 4529265], [4529795, 4529878], [4531638, 4531834], [4534026, 4534086]]
ENST00000589728	[[4523920, 4524097], [4524974, 4525088], [4525644, 4525861]]	None
ENST00000590350	[[4529289, 4529878], [4531638, 4531834], [4534026, 4534107], [4535176, 4535197]]	None
ENST00000588887	[[4529421, 4529598], [4529795, 4529878], [4531638, 4531834], [4534026, 4534107], [4535176, 4535236]]	[[4529421, 4529598], [4529795, 4529878], [4531638, 4531834], [4534026, 4534086]]
ENST00000592610	[[4532383, 4534286]]	[[4533909, 4534086]]
ENST00000586133	[[4533260, 4534107], [4535176, 4535236]]	[[4533909, 4534086]]
NM_001013706	[[4522542, 4524097], [4524974, 4525088], [4525644, 4525844], [4529084, 4529265], [4529795, 4529878], [4531638, 4531834], [4534026, 4534107], [4535176, 4535208]]	[[4523539, 4524097], [4524974, 4525088], [4525644, 4525844], [4529084, 4529265], [4529795, 4529878], [4531638, 4531834], [4534026, 4534086]]

Promoter

Chrom	Start	End	Description
chr19	4535233	4535238	CAGE_peak_1_at_PLIN5_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I004516	4516956	4520342	1.73	[{'connected_gene': 'PLIN4', 'score': 550.77}, {'connected_gene': 'CACTIN', 'score': 14.46}, {'connected_gene': 'PLIN5', 'score': 10.7}, {'connected_gene': 'CCDC94', 'score': 10.47}, {'connected_gene': 'CACTIN-AS1', 'score': 10.16}]
chr19	GH19I004056	4056870	4069592	2.61	[{'connected_gene': 'ZBTB7A', 'score': 554.64}, {'connected_gene': 'ENSG00000268670', 'score': 550.77}, {'connected_gene': 'SEMA6B', 'score': 14.61}, {'connected_gene': 'CACTIN-AS1', 'score': 12.79}, {'connected_gene': 'PIAS4', 'score': 10.29}, {'connected_gene': 'CACTIN', 'score': 9.77}, {'connected_gene': 'NFIC', 'score': 4.72}, {'connected_gene': 'PLIN5', 'score': 2.2}, {'connected_gene': 'UBXN6', 'score': 2.03}, {'connected_gene': 'SIRT6', 'score': 1.76}, {'connected_gene': 'ATCAY', 'score': 1.65}, {'connected_gene': 'CCDC94', 'score': 1.65}, {'connected_gene': 'MATK', 'score': 1.37}]
chr19	GH19I004534	4534429	4536000	1.8	[{'connected_gene': 'PLIN5', 'score': 563.47}, {'connected_gene': 'ENSG00000267385', 'score': 0.77}, {'connected_gene': 'PLIN4', 'score': 0.37}]
chr19	GH19I004531	4531609	4531758	1.04	[{'connected_gene': 'PLIN5', 'score': 0.77}, {'connected_gene': 'ENSG00000267385', 'score': 0.44}, {'connected_gene': 'PLIN4', 'score': 0.39}]
chr19	GH19I004536	4536736	4537394	0.72	[{'connected_gene': 'PLIN5', 'score': 561.85}, {'connected_gene': 'GC19M004536', 'score': 550.77}, {'connected_gene': 'GC19P004539', 'score': 550.77}, {'connected_gene': 'ENSG00000267385', 'score': 0.77}, {'connected_gene': 'LRG1', 'score': 0.77}]
chr19	GH19I004510	4510312	4513031	0.43	[{'connected_gene': 'PLIN5', 'score': 7.07}, {'connected_gene': 'CHAF1A', 'score': 6.27}, {'connected_gene': 'PLIN4', 'score': 6.19}, {'connected_gene': 'UBXN6', 'score': 6.07}, {'connected_gene': 'ENSG00000267769', 'score': 5.17}, {'connected_gene': 'GC19P004486', 'score': 0.34}]
chr19	GH19I003559	3559897	3567972	1.64	[{'connected_gene': 'CACTIN-AS1', 'score': 22.66}, {'connected_gene': 'CCDC94', 'score': 19.05}, {'connected_gene': 'CACTIN', 'score': 14.65}, {'connected_gene': 'ZNF77', 'score': 13.35}, {'connected_gene': 'TBXA2R', 'score': 12.72}, {'connected_gene': 'NCLN', 'score': 10.33}, {'connected_gene': 'ENSG00000267030', 'score': 9.79}, {'connected_gene': 'LOC101928631', 'score': 6.3}, {'connected_gene': 'PLIN5', 'score': 5.29}, {'connected_gene': 'ENSG00000279590', 'score': 0.77}, {'connected_gene': 'ENSG00000267231', 'score': 0.44}, {'connected_gene': 'MFSD12', 'score': 0.39}]
chr19	GH19I003965	3965871	3971793	2.49	[{'connected_gene': 'DAPK3', 'score': 556.09}, {'connected_gene': 'CACTIN-AS1', 'score': 12.79}, {'connected_gene': 'PIAS4', 'score': 10.34}, {'connected_gene': 'PLIN5', 'score': 4.43}, {'connected_gene': 'MIR637', 'score': 0.44}, {'connected_gene': 'GC19M003970', 'score': 0.44}]
chr19	GH19I004539	4539001	4545000	2.18	[{'connected_gene': 'LRG1', 'score': 559.46}, {'connected_gene': 'ENSG00000267385', 'score': 550.77}, {'connected_gene': 'SH3GL1', 'score': 13.75}, {'connected_gene': 'ENSG00000267255', 'score': 13.06}, {'connected_gene': 'PLIN5', 'score': 12.05}, {'connected_gene': 'CCDC94', 'score': 11.22}, {'connected_gene': 'KDM4B', 'score': 8.42}, {'connected_gene': 'TICAM1', 'score': 6.78}, {'connected_gene': 'SEMA6B', 'score': 2.75}, {'connected_gene': 'ZBTB7A', 'score': 2.23}, {'connected_gene': 'GC19P004547', 'score': 0.77}, {'connected_gene': 'GC19P004539', 'score': 0.77}]
chr19	GH19I004538	4538601	4538800	0.4	[{'connected_gene': 'GC19M004536', 'score': 550.77}, {'connected_gene': 'GC19P004539', 'score': 550.77}, {'connected_gene': 'ENSG00000267385', 'score': 550.77}, {'connected_gene': 'LRG1', 'score': 550.77}, {'connected_gene': 'PLIN5', 'score': 8.9}]