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
ENST00000306390	[[4536420, 4538963], [4539993, 4540486]]	[[4537951, 4538963], [4539993, 4540025]]
ENST00000586883	[[4538485, 4538904], [4539099, 4539196], [4539993, 4540048]]	None
NM_052972	[[4537226, 4538963], [4539993, 4540036]]	[[4537951, 4538963], [4539993, 4540025]]

Promoter

Chrom	Start	End	Description
chr19	4540040	4540058	CAGE_peak_1_at_LRG1_5end
chr19	4540087	4540096	CAGE_peak_2_at_LRG1_5end
chr19	4540109	4540116	CAGE_peak_3_at_LRG1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I004152	4152544	4155132	1.4	[{'connected_gene': 'CREB3L3', 'score': 550.77}, {'connected_gene': 'CACTIN-AS1', 'score': 12.77}, {'connected_gene': 'PIAS4', 'score': 10.18}, {'connected_gene': 'LRG1', 'score': 5.54}, {'connected_gene': 'MYDGF', 'score': 4.56}, {'connected_gene': 'GC19M004146', 'score': 0.77}]
chr19	GH19I004129	4129966	4132360	1.38	[{'connected_gene': 'CREB3L3', 'score': 12.5}, {'connected_gene': 'ANKRD24', 'score': 12.39}, {'connected_gene': 'SIRT6', 'score': 12.39}, {'connected_gene': 'CACTIN-AS1', 'score': 12.24}, {'connected_gene': 'APBA3', 'score': 11.59}, {'connected_gene': 'CACTIN', 'score': 11.38}, {'connected_gene': 'EEF2', 'score': 11.24}, {'connected_gene': 'TMIGD2', 'score': 10.09}, {'connected_gene': 'FSD1', 'score': 10.09}, {'connected_gene': 'ENSG00000269807', 'score': 10.07}, {'connected_gene': 'DPP9-AS1', 'score': 9.91}, {'connected_gene': 'MAP2K2', 'score': 8.13}, {'connected_gene': 'ENSG00000268670', 'score': 6.58}, {'connected_gene': 'LRG1', 'score': 4.45}, {'connected_gene': 'ENSG00000278007', 'score': 0.77}, {'connected_gene': 'GC19P004136', 'score': 0.44}]
chr19	GH19I004142	4142595	4150552	1.47	[{'connected_gene': 'CACTIN', 'score': 22.28}, {'connected_gene': 'APBA3', 'score': 21.86}, {'connected_gene': 'ENSG00000267769', 'score': 21.25}, {'connected_gene': 'CCDC94', 'score': 19.56}, {'connected_gene': 'ENSG00000267030', 'score': 14.96}, {'connected_gene': 'ENSG00000269807', 'score': 13.8}, {'connected_gene': 'CHAF1A', 'score': 13.19}, {'connected_gene': 'ANKRD24', 'score': 13.1}, {'connected_gene': 'SIRT6', 'score': 13.1}, {'connected_gene': 'DPP9-AS1', 'score': 12.89}, {'connected_gene': 'CACTIN-AS1', 'score': 12.77}, {'connected_gene': 'MAP2K2', 'score': 12.61}, {'connected_gene': 'KDM4B', 'score': 11.53}, {'connected_gene': 'TMIGD2', 'score': 10.72}, {'connected_gene': 'FSD1', 'score': 10.72}, {'connected_gene': 'ENSG00000267138', 'score': 10.57}, {'connected_gene': 'CREB3L3', 'score': 8.22}, {'connected_gene': 'LRG1', 'score': 4.75}, {'connected_gene': 'GC19P004136', 'score': 0.44}, {'connected_gene': 'GC19M004146', '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	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	GH19I004980	4980956	4981862	0.46	[{'connected_gene': 'LRG1', 'score': 4.39}, {'connected_gene': 'GC19M004987', 'score': 0.44}, {'connected_gene': 'KDM4B', 'score': 0.39}, {'connected_gene': 'PIR49056', 'score': 0.39}]
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}]
chr19	GH19I005176	5176076	5177912	0.86	[{'connected_gene': 'ENSG00000267550', 'score': 550.77}, {'connected_gene': 'PLIN3', 'score': 10.42}, {'connected_gene': 'LRG1', 'score': 5.75}, {'connected_gene': 'GC19P005167', 'score': 0.44}, {'connected_gene': 'PTPRS', 'score': 0.1}]