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
ENST00000526438	[[11850691, 11851631], [11853702, 11853821]]	[[11851488, 11851631], [11853702, 11853760]]
ENST00000382205	[[11851436, 11851631], [11853702, 11853821]]	[[11851488, 11851631], [11853702, 11853760]]
NM_001302695	[[11850685, 11851631], [11853702, 11853807], [11858216, 11858261]]	[[11851488, 11851631], [11853702, 11853760]]

Promoter

Chrom	Start	End	Description
chr8	11853819	11853827	CAGE_peak_1_at_DEFB134_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr8	GH08I011996	11996304	11996363	0.5	[{'connected_gene': 'DEFB134', 'score': 550.77}, {'connected_gene': 'LOC100421446', 'score': 0.77}, {'connected_gene': 'DEFB135', 'score': 0.39}, {'connected_gene': 'GC08M011947', 'score': 0.1}]
chr8	GH08I011645	11645974	11647037	0.2	[{'connected_gene': 'GATA4', 'score': 12.07}, {'connected_gene': 'FAM167A', 'score': 10.31}, {'connected_gene': 'DEFB134', 'score': 5.16}, {'connected_gene': 'LOC105379242', 'score': 0.39}]
chr8	GH08I011563	11563383	11565200	1.37	[{'connected_gene': 'LOC105379241', 'score': 17.18}, {'connected_gene': 'ENSG00000255518', 'score': 13.75}, {'connected_gene': 'FAM167A', 'score': 11.77}, {'connected_gene': 'DEFB134', 'score': 10.35}, {'connected_gene': 'LOC100421446', 'score': 10.35}, {'connected_gene': 'FAM66D', 'score': 5.51}, {'connected_gene': 'ENSG00000255354', 'score': 0.77}, {'connected_gene': 'LINC00208', 'score': 0.39}, {'connected_gene': 'BLK', 'score': 0.19}]
chr8	GH08I011566	11566732	11567745	0.94	[{'connected_gene': 'LOC105379241', 'score': 14.11}, {'connected_gene': 'ENSG00000255518', 'score': 13.89}, {'connected_gene': 'FAM167A', 'score': 11.77}, {'connected_gene': 'LOC100421446', 'score': 10.35}, {'connected_gene': 'DEFB134', 'score': 10.35}, {'connected_gene': 'LINC00208', 'score': 0.44}, {'connected_gene': 'ENSG00000255354', 'score': 0.44}]
chr8	GH08I011571	11571630	11573537	0.89	[{'connected_gene': 'LOC105379241', 'score': 14.17}, {'connected_gene': 'FAM167A', 'score': 11.76}, {'connected_gene': 'LOC100421446', 'score': 10.35}, {'connected_gene': 'DEFB134', 'score': 10.35}, {'connected_gene': 'FAM66D', 'score': 4.4}, {'connected_gene': 'LINC00208', 'score': 0.77}, {'connected_gene': 'ENSG00000255354', 'score': 0.39}]
chr8	GH08I011568	11568345	11569163	0.2	[{'connected_gene': 'LOC105379241', 'score': 14.94}, {'connected_gene': 'FAM167A', 'score': 11.77}, {'connected_gene': 'LOC100421446', 'score': 10.35}, {'connected_gene': 'DEFB134', 'score': 10.35}, {'connected_gene': 'FAM66D', 'score': 4.6}, {'connected_gene': 'LINC00208', 'score': 0.44}, {'connected_gene': 'ENSG00000255354', 'score': 0.44}]
chr8	GH08I011994	11994843	11995949	0.56	[{'connected_gene': 'LOC105379241', 'score': 11.36}, {'connected_gene': 'FAM86B2', 'score': 5.98}, {'connected_gene': 'LOC100421446', 'score': 0.77}, {'connected_gene': 'DEFB134', 'score': 0.44}, {'connected_gene': 'DEFB135', 'score': 0.39}, {'connected_gene': 'GC08M011947', 'score': 0.1}]
chr8	GH08I011954	11954961	11956686	0.97	[{'connected_gene': 'LOC100421446', 'score': 10.89}, {'connected_gene': 'DEFB134', 'score': 10.89}, {'connected_gene': 'FAM66A', 'score': 8.14}, {'connected_gene': 'ENSG00000255310', 'score': 7.89}, {'connected_gene': 'LINC00681', 'score': 4.29}, {'connected_gene': 'GC08P011959', 'score': 0.77}, {'connected_gene': 'PIR47001', 'score': 0.77}, {'connected_gene': 'LOC105379244', 'score': 0.39}, {'connected_gene': 'GC08M011947', 'score': 0.08}]
chr8	GH08I011958	11958972	11959121	0.74	[{'connected_gene': 'GC08P011959', 'score': 550.77}, {'connected_gene': 'PIR47001', 'score': 550.77}, {'connected_gene': 'LOC100421446', 'score': 10.91}, {'connected_gene': 'DEFB134', 'score': 10.89}, {'connected_gene': 'ENSG00000255310', 'score': 8.13}, {'connected_gene': 'LINC00681', 'score': 4.26}, {'connected_gene': 'DEFB136', 'score': 0.37}, {'connected_gene': 'GC08M011947', 'score': 0.08}]