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
ENST00000280481	[[39261265, 39266654], [39271834, 39271924], [39338440, 39338587], [39343714, 39343945], [39357206, 39357332], [39358693, 39358945], [39420709, 39420859], [39422597, 39422807], [39424174, 39424372], [39425080, 39425245], [39425822, 39426005], [39430262, 39430393], [39432011, 39432170], [39433423, 39433727], [39435567, 39435699], [39438411, 39438743], [39446878, 39447071], [39448618, 39448723], [39450158, 39450286], [39450384, 39450519], [39451253, 39451380], [39452270, 39452458], [39452967, 39453114], [39454420, 39460074]]	[[39261481, 39266654], [39271834, 39271924], [39338440, 39338587], [39343714, 39343945], [39357206, 39357332], [39358693, 39358945], [39420709, 39420859], [39422597, 39422807], [39424174, 39424372], [39425080, 39425245], [39425822, 39426005], [39430262, 39430393], [39432011, 39432170], [39433423, 39433727], [39435567, 39435699], [39438411, 39438743], [39446878, 39447071], [39448618, 39448723], [39450158, 39450286], [39450384, 39450519], [39451253, 39451380], [39452270, 39452458], [39452967, 39453114], [39454420, 39454924]]
ENST00000482551	[[39395832, 39395985], [39420709, 39420859], [39422597, 39422807], [39424174, 39424372]]	None
NM_207361	[[39261172, 39266654], [39271834, 39271924], [39338440, 39338587], [39343714, 39343945], [39357206, 39357332], [39358693, 39358945], [39420709, 39420859], [39422597, 39422807], [39424174, 39424372], [39425080, 39425245], [39425822, 39426005], [39430262, 39430393], [39432011, 39432170], [39433423, 39433727], [39435567, 39435699], [39438411, 39438743], [39446878, 39447071], [39448618, 39448723], [39450158, 39450286], [39450384, 39450519], [39451253, 39451380], [39452270, 39452458], [39452967, 39453114], [39454420, 39461268]]	[[39261481, 39266654], [39271834, 39271924], [39338440, 39338587], [39343714, 39343945], [39357206, 39357332], [39358693, 39358945], [39420709, 39420859], [39422597, 39422807], [39424174, 39424372], [39425080, 39425245], [39425822, 39426005], [39430262, 39430393], [39432011, 39432170], [39433423, 39433727], [39435567, 39435699], [39438411, 39438743], [39446878, 39447071], [39448618, 39448723], [39450158, 39450286], [39450384, 39450519], [39451253, 39451380], [39452270, 39452458], [39452967, 39453114], [39454420, 39454924]]

Promoter

Chrom	Start	End	Description
chr13	39261175	39261197	CAGE_peak_2_at_FREM2_5end
chr13	39261206	39261220	CAGE_peak_1_at_FREM2_5end
chr13	39261224	39261248	CAGE_peak_3_at_FREM2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr13	GH13I038685	38685282	38688045	1.89	[{'connected_gene': 'FREM2', 'score': 550.77}, {'connected_gene': 'LINC00437', 'score': 550.77}, {'connected_gene': 'GC13M038666', 'score': 0.23}, {'connected_gene': 'PRDX3P3', 'score': 0.2}]
chr13	GH13I038785	38785298	38785637	0.2	[{'connected_gene': 'FREM2', 'score': 5.4}, {'connected_gene': 'RNU6-56P', 'score': 0.44}, {'connected_gene': 'FREM2-AS1', 'score': 0.25}]
chr13	GH13I038763	38763547	38764145	0.63	[{'connected_gene': 'FREM2', 'score': 14.33}, {'connected_gene': 'RNU6-56P', 'score': 0.37}, {'connected_gene': 'GC13M038666', 'score': 0.31}]
chr13	GH13I038636	38636904	38637073	0.49	[{'connected_gene': 'FREM2', 'score': 11.33}, {'connected_gene': 'PRDX3P3', 'score': 0.37}, {'connected_gene': 'LINC00437', 'score': 0.25}]
chr13	GH13I038735	38735744	38735893	0.31	[{'connected_gene': 'FREM2-AS1', 'score': 9.88}, {'connected_gene': 'GC13M038666', 'score': 0.77}, {'connected_gene': 'FREM2', 'score': 0.25}]
chr13	GH13I038783	38783964	38784856	0.2	[{'connected_gene': 'FREM2-AS1', 'score': 10.87}, {'connected_gene': 'RNU6-56P', 'score': 0.77}, {'connected_gene': 'FREM2', 'score': 0.15}]
chr13	GH13I038786	38785124	38785273	0.2	[{'connected_gene': 'FREM2-AS1', 'score': 10.87}, {'connected_gene': 'RNU6-56P', 'score': 0.44}, {'connected_gene': 'FREM2', 'score': 0.15}]
chr13	GH13I038821	38821423	38822766	0.43	[{'connected_gene': 'FREM2-AS1', 'score': 0.44}, {'connected_gene': 'RNU6-56P', 'score': 0.26}, {'connected_gene': 'FREM2', 'score': 0.12}]
chr13	GH13I038804	38804684	38804833	0.2	[{'connected_gene': 'RNU6-56P', 'score': 11.74}, {'connected_gene': 'FREM2-AS1', 'score': 11.07}, {'connected_gene': 'FREM2', 'score': 0.13}]
chr13	GH13I038878	38878288	38880098	0.43	[{'connected_gene': 'GC13M038877', 'score': 550.77}, {'connected_gene': 'FREM2-AS1', 'score': 10.62}, {'connected_gene': 'GC13M038879', 'score': 0.37}, {'connected_gene': 'FREM2', 'score': 0.08}]