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
ENST00000333598	[[7741513, 7742061], [7742522, 7742612], [7742989, 7743127], [7743235, 7743286], [7743376, 7743490], [7743809, 7743869], [7743983, 7744712]]	[[7741967, 7742061], [7742522, 7742612], [7742989, 7743127], [7743235, 7743286], [7743376, 7743490], [7743809, 7743869], [7743983, 7744000]]
ENST00000597445	[[7741973, 7742061], [7742989, 7743127], [7743235, 7743286], [7743376, 7743490], [7743809, 7743869], [7743983, 7744295]]	[[7742006, 7742061], [7742989, 7743127], [7743235, 7743286], [7743376, 7743490], [7743809, 7743869], [7743983, 7744000]]
ENST00000598851	[[7742814, 7743127], [7743235, 7743286], [7743376, 7743490], [7743809, 7743870]]	None
NM_174918	[[7741942, 7742061], [7742522, 7742612], [7742989, 7743127], [7743235, 7743286], [7743376, 7743490], [7743809, 7743869], [7743983, 7744719]]	[[7741967, 7742061], [7742522, 7742612], [7742989, 7743127], [7743235, 7743286], [7743376, 7743490], [7743809, 7743869], [7743983, 7744000]]

Promoter

Chrom	Start	End	Description
chr19	7741941	7741953	CAGE_peak_2_at_C19orf59_5end
chr19	7741968	7742004	CAGE_peak_1_at_C19orf59_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
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	GH19I007656	7656755	7659254	1.2	[{'connected_gene': 'XAB2', 'score': 14.19}, {'connected_gene': 'PCP2', 'score': 13.72}, {'connected_gene': 'STXBP2', 'score': 4.01}, {'connected_gene': 'MCEMP1', 'score': 3.39}, {'connected_gene': 'MCOLN1', 'score': 1.9}, {'connected_gene': 'PEX11G', 'score': 1.82}, {'connected_gene': 'RPS27AP19', 'score': 0.44}, {'connected_gene': 'ENSG00000268204', 'score': 0.34}]
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	GH19I007791	7791565	7793176	0.57	[{'connected_gene': 'CLEC4GP1', 'score': 15.03}, {'connected_gene': 'TRAPPC5', 'score': 12.63}, {'connected_gene': 'MCEMP1', 'score': 12.63}, {'connected_gene': 'RPL21P129', 'score': 12.36}, {'connected_gene': 'CD209', 'score': 12.36}, {'connected_gene': 'CLEC4G', 'score': 12.17}, {'connected_gene': 'CAMSAP3', 'score': 10.83}, {'connected_gene': 'EXOSC3P2', 'score': 0.34}]
chr19	GH19I007779	7779293	7780464	0.57	[{'connected_gene': 'CLEC4GP1', 'score': 13.1}, {'connected_gene': 'RPL21P129', 'score': 12.74}, {'connected_gene': 'CD209', 'score': 12.72}, {'connected_gene': 'CLEC4G', 'score': 12.59}, {'connected_gene': 'FCER2', 'score': 12.21}, {'connected_gene': 'TRAPPC5', 'score': 12.01}, {'connected_gene': 'MCEMP1', 'score': 12.0}, {'connected_gene': 'ZNF414', 'score': 10.79}, {'connected_gene': 'LOC105372263', 'score': 0.44}, {'connected_gene': 'GC19P007785', 'score': 0.44}]
chr19	GH19I007804	7804995	7805144	0.31	[{'connected_gene': 'CLEC4G', 'score': 12.05}, {'connected_gene': 'MCEMP1', 'score': 12.02}, {'connected_gene': 'TRAPPC5', 'score': 12.02}, {'connected_gene': 'XAB2', 'score': 11.47}, {'connected_gene': 'PET100', 'score': 11.47}, {'connected_gene': 'EXOSC3P2', 'score': 0.44}, {'connected_gene': 'CLEC4GP1', 'score': 0.37}]
chr19	GH19I007801	7801355	7801484	0.72	[{'connected_gene': 'CLEC4G', 'score': 12.07}, {'connected_gene': 'TRAPPC5', 'score': 12.02}, {'connected_gene': 'MCEMP1', 'score': 12.02}, {'connected_gene': 'XAB2', 'score': 11.47}, {'connected_gene': 'PET100', 'score': 11.47}, {'connected_gene': 'CLEC4GP1', 'score': 0.39}, {'connected_gene': 'EXOSC3P2', 'score': 0.39}]
chr19	GH19I007714	7714170	7715443	0.71	[{'connected_gene': 'CD209', 'score': 17.03}, {'connected_gene': 'TRAPPC5', 'score': 13.16}, {'connected_gene': 'MCEMP1', 'score': 13.14}, {'connected_gene': 'RPL21P129', 'score': 11.88}, {'connected_gene': 'CAMSAP3', 'score': 10.87}, {'connected_gene': 'CLEC4G', 'score': 6.8}, {'connected_gene': 'FCER2', 'score': 6.09}, {'connected_gene': 'XAB2', 'score': 5.54}, {'connected_gene': 'LOC105372262', 'score': 0.44}]
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	GH19I007799	7799201	7800600	0.99	[{'connected_gene': 'TRAPPC5', 'score': 12.32}, {'connected_gene': 'MCEMP1', 'score': 12.32}, {'connected_gene': 'CLEC4G', 'score': 12.07}, {'connected_gene': 'RPL21P129', 'score': 11.83}, {'connected_gene': 'CD209', 'score': 11.81}, {'connected_gene': 'XAB2', 'score': 11.47}, {'connected_gene': 'PET100', 'score': 11.47}, {'connected_gene': 'LRRC8E', 'score': 9.94}, {'connected_gene': 'PRR36', 'score': 5.59}, {'connected_gene': 'CLEC4GP1', 'score': 0.39}, {'connected_gene': 'EXOSC3P2', 'score': 0.39}]
chr19	GH19I007807	7807388	7808297	0.8	[{'connected_gene': 'TRAPPC5', 'score': 11.86}, {'connected_gene': 'MCEMP1', 'score': 11.85}, {'connected_gene': 'RPL21P129', 'score': 11.66}, {'connected_gene': 'CD209', 'score': 11.64}, {'connected_gene': 'CLEC4G', 'score': 11.62}, {'connected_gene': 'TEX45', 'score': 10.43}, {'connected_gene': 'PEX11G', 'score': 10.43}, {'connected_gene': 'EXOSC3P2', 'score': 0.44}, {'connected_gene': 'CLEC4GP1', 'score': 0.34}]