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
ENST00000221515	[[7733929, 7734007], [7734202, 7734330], [7734706, 7734784], [7735104, 7735334]]	[[7734212, 7734330], [7734706, 7734784], [7735104, 7735235]]
ENST00000381324	[[7734212, 7734330], [7735104, 7735235]]	[[7734212, 7734330], [7735104, 7735235]]
NM_001193374	[[7733971, 7734007], [7734211, 7734330], [7734706, 7734784], [7735104, 7735340]]	[[7734212, 7734330], [7734706, 7734784], [7735104, 7735235]]
NM_020415	[[7733971, 7734007], [7734202, 7734330], [7734706, 7734784], [7735104, 7735340]]	[[7734212, 7734330], [7734706, 7734784], [7735104, 7735235]]

Promoter

Chrom	Start	End	Description
chr19	7733929	7733950	CAGE_peak_1_at_RETN_5end
chr19	7733964	7733984	CAGE_peak_2_at_RETN_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I007196	7196196	7201188	1.75	[{'connected_gene': 'ZNF557', 'score': 37.07}, {'connected_gene': 'ELAVL1', 'score': 31.88}, {'connected_gene': 'XAB2', 'score': 30.76}, {'connected_gene': 'MAP2K7', 'score': 30.29}, {'connected_gene': 'KHSRP', 'score': 27.54}, {'connected_gene': 'GTF2F1', 'score': 19.69}, {'connected_gene': 'ARHGEF18', 'score': 11.19}, {'connected_gene': 'PSPN', 'score': 10.57}, {'connected_gene': 'GPR108', 'score': 10.48}, {'connected_gene': 'INSR', 'score': 6.89}, {'connected_gene': 'RETN', 'score': 5.46}, {'connected_gene': 'CAMSAP3', 'score': 2.05}, {'connected_gene': 'GC19P007214', 'score': 0.37}, {'connected_gene': 'GC19P007151', 'score': 0.25}]
chr19	GH19I008050	8050001	8054897	1.87	[{'connected_gene': 'CCL25', 'score': 550.77}, {'connected_gene': 'RETN', 'score': 5.24}, {'connected_gene': 'MCEMP1', 'score': 4.67}, {'connected_gene': 'STXBP2', 'score': 2.58}, {'connected_gene': 'PRAM1', 'score': 1.5}, {'connected_gene': 'GC19M008058', 'score': 0.44}]
chr19	GH19I007543	7543145	7546307	1.22	[{'connected_gene': 'MCOLN1', 'score': 14.42}, {'connected_gene': 'MCEMP1', 'score': 10.79}, {'connected_gene': 'PEX11G', 'score': 10.26}, {'connected_gene': 'PNPLA6', 'score': 9.95}, {'connected_gene': 'STXBP2', 'score': 9.14}, {'connected_gene': 'RETN', 'score': 1.48}, {'connected_gene': 'GC19M007532', 'score': 0.44}, {'connected_gene': 'CAMSAP3', 'score': 0.23}]
chr19	GH19I007589	7589959	7591205	0.66	[{'connected_gene': 'XAB2', 'score': 8.2}, {'connected_gene': 'RETN', 'score': 6.65}, {'connected_gene': 'CAMSAP3', 'score': 5.31}, {'connected_gene': 'GC19M007532', 'score': 0.23}]
chr19	GH19I007651	7651675	7653507	1.25	[{'connected_gene': 'XAB2', 'score': 9.23}, {'connected_gene': 'RETN', 'score': 6.03}, {'connected_gene': 'RPS27AP19', 'score': 0.39}, {'connected_gene': 'ENSG00000268204', 'score': 0.37}]
chr19	GH19I007628	7628247	7630926	2.01	[{'connected_gene': 'XAB2', 'score': 590.61}, {'connected_gene': 'PET100', 'score': 567.87}, {'connected_gene': 'ENSG00000268400', 'score': 550.77}, {'connected_gene': 'ELAVL1', 'score': 25.23}, {'connected_gene': 'HNRNPM', 'score': 22.17}, {'connected_gene': 'TRIP10', 'score': 14.5}, {'connected_gene': 'ZNF557', 'score': 12.97}, {'connected_gene': 'ENSG00000269680', 'score': 11.37}, {'connected_gene': 'RETN', 'score': 6.75}, {'connected_gene': 'PCP2', 'score': 6.09}]
chr19	GH19I007668	7668601	7671207	1.27	[{'connected_gene': 'RETN', 'score': 566.24}, {'connected_gene': 'ENSG00000268204', 'score': 5.09}, {'connected_gene': 'MCEMP1', 'score': 0.44}]
chr19	GH19I007188	7188226	7189839	1.06	[{'connected_gene': 'ARHGEF18', 'score': 10.84}, {'connected_gene': 'PEX11G', 'score': 10.21}, {'connected_gene': 'TEX45', 'score': 10.21}, {'connected_gene': 'CAMSAP3', 'score': 10.05}, {'connected_gene': 'RETN', 'score': 4.95}, {'connected_gene': 'GC19P007214', 'score': 0.31}, {'connected_gene': 'GC19P007151', 'score': 0.28}, {'connected_gene': 'INSR', 'score': 0.14}]
chr19	GH19I007700	7700966	7708009	2.08	[{'connected_gene': 'FCER2', 'score': 567.12}, {'connected_gene': 'STXBP2', 'score': 17.49}, {'connected_gene': 'ELAVL1', 'score': 14.53}, {'connected_gene': 'HNRNPM', 'score': 13.56}, {'connected_gene': 'XAB2', 'score': 12.91}, {'connected_gene': 'PEX11G', 'score': 12.81}, {'connected_gene': 'MAP2K7', 'score': 12.54}, {'connected_gene': 'CD209', 'score': 12.41}, {'connected_gene': 'CLEC4G', 'score': 12.41}, {'connected_gene': 'RPL21P129', 'score': 12.4}, {'connected_gene': 'MCEMP1', 'score': 10.33}, {'connected_gene': 'MCOLN1', 'score': 10.02}, {'connected_gene': 'PNPLA6', 'score': 5.73}, {'connected_gene': 'RAB11B-AS1', 'score': 5.45}, {'connected_gene': 'ARHGEF18', 'score': 4.88}, {'connected_gene': 'RETN', 'score': 1.51}, {'connected_gene': 'LOC105372262', 'score': 0.77}, {'connected_gene': 'GC19P007703', 'score': 0.44}]
chr19	GH19I007655	7655202	7656665	0.91	[{'connected_gene': 'MCEMP1', 'score': 16.21}, {'connected_gene': 'STXBP2', 'score': 11.78}, {'connected_gene': 'XAB2', 'score': 10.12}, {'connected_gene': 'MCOLN1', 'score': 8.46}, {'connected_gene': 'PEX11G', 'score': 7.8}, {'connected_gene': 'PNPLA6', 'score': 2.93}, {'connected_gene': 'RETN', 'score': 1.63}, {'connected_gene': 'RPS27AP19', 'score': 0.44}, {'connected_gene': 'ENSG00000268204', 'score': 0.37}]
chr19	GH19I007673	7673878	7675104	1.13	[{'connected_gene': 'MCEMP1', 'score': 17.79}, {'connected_gene': 'XAB2', 'score': 15.89}, {'connected_gene': 'HNRNPM', 'score': 12.85}, {'connected_gene': 'ZNF414', 'score': 12.74}, {'connected_gene': 'ZNF557', 'score': 11.17}, {'connected_gene': 'ELAVL1', 'score': 10.6}, {'connected_gene': 'SNAPC2', 'score': 9.85}, {'connected_gene': 'MCOLN1', 'score': 9.76}, {'connected_gene': 'STXBP2', 'score': 7.72}, {'connected_gene': 'PEX11G', 'score': 7.05}, {'connected_gene': 'PNPLA6', 'score': 2.16}, {'connected_gene': 'RETN', 'score': 0.44}]
chr19	GH19I007676	7676515	7676664	0.93	[{'connected_gene': 'MCEMP1', 'score': 550.77}, {'connected_gene': 'ENSG00000269711', 'score': 550.77}, {'connected_gene': 'RETN', 'score': 0.44}]
chr19	GH19I007678	7678884	7682506	2.32	[{'connected_gene': 'TRAPPC5', 'score': 550.77}, {'connected_gene': 'HNRNPM', 'score': 54.97}, {'connected_gene': 'ELAVL1', 'score': 52.75}, {'connected_gene': 'XAB2', 'score': 33.6}, {'connected_gene': 'ZNF557', 'score': 25.43}, {'connected_gene': 'MAP2K7', 'score': 22.86}, {'connected_gene': 'STXBP2', 'score': 14.4}, {'connected_gene': 'ZNF414', 'score': 9.71}, {'connected_gene': 'MCEMP1', 'score': 9.68}, {'connected_gene': 'PEX11G', 'score': 7.66}, {'connected_gene': 'MCOLN1', 'score': 6.79}, {'connected_gene': 'ARHGEF18', 'score': 6.51}, {'connected_gene': 'PNPLA6', 'score': 6.15}, {'connected_gene': 'RPS28', 'score': 4.53}, {'connected_gene': 'RETN', 'score': 1.49}, {'connected_gene': 'EVI5L', 'score': 1.46}, {'connected_gene': 'ENSG00000269711', 'score': 0.77}]
chr19	GH19I007617	7617943	7620874	0.94	[{'connected_gene': 'MIR6792', 'score': 550.77}, {'connected_gene': 'ELAVL1', 'score': 25.17}, {'connected_gene': 'HNRNPM', 'score': 23.71}, {'connected_gene': 'ZNF414', 'score': 11.2}, {'connected_gene': 'XAB2', 'score': 10.97}, {'connected_gene': 'PCP2', 'score': 10.07}, {'connected_gene': 'MAP2K7', 'score': 9.79}, {'connected_gene': 'RETN', 'score': 6.72}, {'connected_gene': 'CAMSAP3', 'score': 0.34}]