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
ENST00000593796	[[50970041, 50970212], [50970878, 50970989], [50978581, 50978742]]	[[50970041, 50970212], [50970878, 50970989], [50978581, 50978742]]
ENST00000600100	[[50970043, 50970212], [50970878, 50971086], [50978581, 50978760], [50979089, 50979190], [50979386, 50980010]]	[[50970881, 50971086], [50978581, 50978760], [50979089, 50979190], [50979386, 50979645]]
ENST00000602178	[[50970044, 50970212], [50970878, 50970989], [50978581, 50978712], [50979089, 50979190], [50979386, 50979528]]	[[50970044, 50970212], [50970878, 50970989], [50978581, 50978712], [50979089, 50979190], [50979386, 50979456]]
ENST00000595790	[[50970044, 50970212], [50970878, 50971086], [50978581, 50978712], [50979089, 50979190], [50979386, 50980003]]	[[50970881, 50971086], [50978581, 50978712], [50979089, 50979190], [50979386, 50979645]]
ENST00000599206	[[50970046, 50970212], [50970812, 50971086], [50978581, 50978712], [50979089, 50979190], [50979386, 50979558]]	[[50970881, 50971086], [50978581, 50978712], [50979089, 50979190], [50979386, 50979456]]
ENST00000600330	[[50978560, 50978712], [50979089, 50979513]]	None
NM_001308429	[[50970041, 50970212], [50970878, 50971086], [50978581, 50978760], [50979089, 50979190], [50979386, 50980003]]	[[50970881, 50971086], [50978581, 50978760], [50979089, 50979190], [50979386, 50979645]]
NM_138411	[[50970041, 50970212], [50970878, 50971086], [50978581, 50978712], [50979089, 50979190], [50979386, 50980003]]	[[50970881, 50971086], [50978581, 50978712], [50979089, 50979190], [50979386, 50979645]]

Promoter

Chrom	Start	End	Description
chr19	50979458	50979539	CAGE_peak_1_at_FAM71E1_5end
chr19	50979540	50979543	CAGE_peak_10_at_FAM71E1_5end
chr19	50979981	50980050	CAGE_peak_2_at_FAM71E1_5end
chr19	50980096	50980112	CAGE_peak_3_at_FAM71E1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I050465	50465312	50467670	0.89	[{'connected_gene': 'ASPDH', 'score': 8.52}, {'connected_gene': 'FAM71E1', 'score': 6.33}, {'connected_gene': 'EMC10', 'score': 0.44}, {'connected_gene': 'MYBPC2', 'score': 0.29}]
chr19	GH19I050410	50410280	50411620	0.54	[{'connected_gene': 'NAPSB', 'score': 23.62}, {'connected_gene': 'NAPSA', 'score': 12.4}, {'connected_gene': 'NR1H2', 'score': 12.31}, {'connected_gene': 'FAM71E1', 'score': 11.73}, {'connected_gene': 'EMC10', 'score': 11.73}, {'connected_gene': 'ENSG00000142539', 'score': 0.77}, {'connected_gene': 'GC19P050397', 'score': 0.39}, {'connected_gene': 'POLD1', 'score': 0.31}]
chr19	GH19I050346	50346075	50349983	1.09	[{'connected_gene': 'NAPSB', 'score': 71.96}, {'connected_gene': 'KCNC3', 'score': 22.81}, {'connected_gene': 'NAPSA', 'score': 12.79}, {'connected_gene': 'POLD1', 'score': 11.81}, {'connected_gene': 'JOSD2', 'score': 11.29}, {'connected_gene': 'ASPDH', 'score': 11.19}, {'connected_gene': 'FAM71E1', 'score': 11.09}, {'connected_gene': 'EMC10', 'score': 11.09}, {'connected_gene': 'KLK2', 'score': 9.56}, {'connected_gene': 'NR1H2', 'score': 0.37}, {'connected_gene': 'LOC105372437', 'score': 0.37}, {'connected_gene': 'ENSG00000269392', 'score': 0.34}]
chr19	GH19I050475	50475384	50477540	2.02	[{'connected_gene': 'FAM71E1', 'score': 550.77}, {'connected_gene': 'EMC10', 'score': 550.77}, {'connected_gene': 'ASPDH', 'score': 7.4}]
chr19	GH19I050479	50479168	50479853	1	[{'connected_gene': 'GC19P050481', 'score': 550.77}, {'connected_gene': 'NAPSA', 'score': 11.79}, {'connected_gene': 'NR1H2', 'score': 11.76}, {'connected_gene': 'CLEC11A', 'score': 9.7}, {'connected_gene': 'LOC100506114', 'score': 6.06}, {'connected_gene': 'FAM71E1', 'score': 0.77}, {'connected_gene': 'EMC10', 'score': 0.77}]