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
ENST00000264079	[[7587511, 7587667], [7589846, 7590052], [7591324, 7591492], [7591646, 7591812], [7592405, 7592514], [7592749, 7592846], [7593043, 7593143], [7593482, 7593589], [7593706, 7593856], [7593986, 7594088], [7594475, 7594598], [7595171, 7595387], [7598408, 7598539], [7598644, 7598895]]	[[7587636, 7587667], [7589846, 7590052], [7591324, 7591492], [7591646, 7591812], [7592405, 7592514], [7592749, 7592846], [7593043, 7593143], [7593482, 7593589], [7593706, 7593856], [7593986, 7594088], [7594475, 7594598], [7595171, 7595387], [7598408, 7598539], [7598644, 7598681]]
ENST00000596390	[[7587520, 7587667], [7589846, 7590877]]	None
ENST00000394321	[[7587556, 7587667], [7589846, 7590052], [7591324, 7591492], [7591646, 7591812], [7592405, 7592846], [7593043, 7593143], [7593482, 7593589], [7593706, 7593856], [7593986, 7594088], [7594475, 7594598], [7595171, 7595387], [7598408, 7598539], [7598644, 7598876]]	None
ENST00000601003	[[7587572, 7587667], [7589846, 7590052], [7591324, 7591492], [7591646, 7591812], [7592749, 7592780]]	[[7587636, 7587667], [7589846, 7590052], [7591324, 7591492], [7591646, 7591812], [7592749, 7592780]]
ENST00000596008	[[7591125, 7591492], [7591646, 7592051]]	None
ENST00000598406	[[7591266, 7591492], [7591646, 7591812], [7592405, 7592657]]	None
ENST00000595860	[[7593539, 7593856], [7593986, 7594088], [7594475, 7594598], [7595171, 7595387]]	None
ENST00000599334	[[7593845, 7593856], [7593986, 7594088], [7594475, 7594598], [7595320, 7595387], [7598408, 7598539], [7598644, 7598876]]	[[7593845, 7593856], [7593986, 7594088], [7594475, 7594598], [7595320, 7595387], [7598408, 7598539], [7598644, 7598758]]
ENST00000594692	[[7593856, 7594088], [7594475, 7594598], [7595171, 7595286]]	None
ENST00000602227	[[7598279, 7598539], [7598644, 7598876]]	None
NM_020533	[[7587495, 7587667], [7589846, 7590052], [7591324, 7591492], [7591646, 7591812], [7592405, 7592514], [7592749, 7592846], [7593043, 7593143], [7593482, 7593589], [7593706, 7593856], [7593986, 7594088], [7594475, 7594598], [7595171, 7595387], [7598408, 7598539], [7598644, 7598895]]	[[7587636, 7587667], [7589846, 7590052], [7591324, 7591492], [7591646, 7591812], [7592405, 7592514], [7592749, 7592846], [7593043, 7593143], [7593482, 7593589], [7593706, 7593856], [7593986, 7594088], [7594475, 7594598], [7595171, 7595387], [7598408, 7598539], [7598644, 7598681]]

Promoter

Chrom	Start	End	Description
chr19	7587491	7587547	CAGE_peak_1_at_MCOLN1_5end
chr19	7587555	7587570	CAGE_peak_2_at_MCOLN1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I007482	7482367	7484552	1.22	[{'connected_gene': 'PEX11G', 'score': 49.33}, {'connected_gene': 'ARHGEF18', 'score': 7.59}, {'connected_gene': 'MCOLN1', 'score': 5.81}, {'connected_gene': 'EVI5L', 'score': 2.3}, {'connected_gene': 'STXBP2', 'score': 1.98}, {'connected_gene': 'PNPLA6', 'score': 1.94}, {'connected_gene': 'CD209', 'score': 1.53}, {'connected_gene': 'TEX45', 'score': 0.44}, {'connected_gene': 'LOC100128573', 'score': 0.39}]
chr19	GH19I007525	7525423	7529175	0.59	[{'connected_gene': 'PEX11G', 'score': 6.93}, {'connected_gene': 'LOC105372261', 'score': 0.77}, {'connected_gene': 'MCOLN1', 'score': 0.77}, {'connected_gene': 'ENSG00000268614', 'score': 0.44}]
chr19	GH19I007521	7521845	7523869	2.57	[{'connected_gene': 'MCOLN1', 'score': 553.45}, {'connected_gene': 'GC19M007510', 'score': 550.77}, {'connected_gene': 'HNRNPM', 'score': 80.55}, {'connected_gene': 'ELAVL1', 'score': 73.1}, {'connected_gene': 'XAB2', 'score': 51.63}, {'connected_gene': 'ZNF557', 'score': 34.69}, {'connected_gene': 'MAP2K7', 'score': 28.57}, {'connected_gene': 'ZNF414', 'score': 19.85}, {'connected_gene': 'TIMM44', 'score': 11.63}, {'connected_gene': 'SNAPC2', 'score': 11.12}, {'connected_gene': 'GPR108', 'score': 10.31}, {'connected_gene': 'CD209', 'score': 10.17}, {'connected_gene': 'EVI5L', 'score': 10.08}, {'connected_gene': 'PEX11G', 'score': 7.01}, {'connected_gene': 'LOC105372261', 'score': 0.77}]
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	GH19I007520	7520440	7521415	0.54	[{'connected_gene': 'MCOLN1', 'score': 550.77}, {'connected_gene': 'LOC105372261', 'score': 0.77}, {'connected_gene': 'GC19M007510', 'score': 0.77}, {'connected_gene': 'ZNF358', 'score': 0.44}]
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	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	GH19I007514	7514483	7517326	1.91	[{'connected_gene': 'ZNF358', 'score': 550.77}, {'connected_gene': 'HNRNPM', 'score': 26.85}, {'connected_gene': 'XAB2', 'score': 19.45}, {'connected_gene': 'ZNF557', 'score': 18.27}, {'connected_gene': 'ELAVL1', 'score': 16.05}, {'connected_gene': 'TRIP10', 'score': 14.5}, {'connected_gene': 'ZNF414', 'score': 13.16}, {'connected_gene': 'MAP2K7', 'score': 12.57}, {'connected_gene': 'ENSG00000269680', 'score': 11.37}, {'connected_gene': 'SH2D3A', 'score': 6.31}, {'connected_gene': 'PEX11G', 'score': 5.99}, {'connected_gene': 'LOC105372261', 'score': 0.44}, {'connected_gene': 'GC19M007510', 'score': 0.44}, {'connected_gene': 'MCOLN1', 'score': 0.44}, {'connected_gene': 'ENSG00000267952', 'score': 0.44}, {'connected_gene': 'TEX45', 'score': 0.34}]
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	GH19I007529	7529722	7530145	0.49	[{'connected_gene': 'LOC105372261', 'score': 0.77}, {'connected_gene': 'ENSG00000268614', 'score': 0.77}, {'connected_gene': 'MCOLN1', 'score': 0.44}]
chr19	GH19I007532	7532856	7536661	2.28	[{'connected_gene': 'GC19M007532', 'score': 550.77}, {'connected_gene': 'PNPLA6', 'score': 550.77}, {'connected_gene': 'ENSG00000268614', 'score': 550.77}, {'connected_gene': 'ZNF557', 'score': 21.83}, {'connected_gene': 'XAB2', 'score': 18.39}, {'connected_gene': 'HNRNPM', 'score': 17.18}, {'connected_gene': 'ELAVL1', 'score': 14.42}, {'connected_gene': 'ZNF414', 'score': 11.21}, {'connected_gene': 'MAP2K7', 'score': 11.09}, {'connected_gene': 'MCOLN1', 'score': 0.39}]