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
ENST00000227266	[[88026759, 88027676], [88029300, 88029432], [88033697, 88033813], [88042330, 88042486], [88045555, 88045722], [88068104, 88068250], [88070668, 88070955]]	[[88027173, 88027676], [88029300, 88029432], [88033697, 88033813], [88042330, 88042486], [88045555, 88045722], [88068104, 88068250], [88070668, 88070840]]
ENST00000533897	[[88026955, 88027676], [88029300, 88032923]]	None
ENST00000527018	[[88029326, 88029432], [88033697, 88033813], [88042330, 88042486], [88045555, 88045722], [88068104, 88068250], [88070875, 88070917]]	[[88029326, 88029432], [88033697, 88033813], [88042330, 88042486], [88045555, 88045722], [88068104, 88068250], [88070875, 88070917]]
ENST00000533865	[[88042451, 88042486], [88045555, 88045722], [88068104, 88068250], [88070714, 88070908]]	None
ENST00000524463	[[88053978, 88059611], [88061279, 88061364], [88068104, 88068250], [88070668, 88070929]]	[[88059600, 88059611], [88061279, 88061364], [88068104, 88068250], [88070668, 88070840]]
ENST00000528020	[[88059253, 88059567], [88061279, 88061366]]	[[88059544, 88059567], [88061279, 88061366]]
ENST00000529974	[[88059284, 88059567], [88061279, 88061364], [88068104, 88068250], [88070668, 88070901]]	[[88059544, 88059567], [88061279, 88061364], [88068104, 88068250], [88070668, 88070840]]
ENST00000393301	[[88059532, 88059611], [88061096, 88061184], [88061279, 88061364], [88068104, 88068250], [88070668, 88070868]]	None
ENST00000534131	[[88067903, 88068250], [88070668, 88070904]]	None
NM_001814	[[88026759, 88027676], [88029300, 88029432], [88033697, 88033813], [88042330, 88042486], [88045555, 88045722], [88068104, 88068250], [88070668, 88070955]]	[[88027173, 88027676], [88029300, 88029432], [88033697, 88033813], [88042330, 88042486], [88045555, 88045722], [88068104, 88068250], [88070668, 88070840]]
NM_148170	[[88053978, 88059611], [88061279, 88061364], [88068104, 88068250], [88070668, 88070955]]	[[88059600, 88059611], [88061279, 88061364], [88068104, 88068250], [88070668, 88070840]]
NM_001114173	[[88053978, 88059567], [88061279, 88061364], [88068104, 88068250], [88070668, 88070955]]	[[88059544, 88059567], [88061279, 88061364], [88068104, 88068250], [88070668, 88070840]]

Promoter

Chrom	Start	End	Description
chr11	88070850	88070878	CAGE_peak_3_at_CTSC_5end
chr11	88070896	88070916	CAGE_peak_1_at_CTSC_5end
chr11	88070920	88070953	CAGE_peak_2_at_CTSC_5end
chr11	88071295	88071324	CAGE_peak_5_at_CTSC_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr11	GH11I088410	88410015	88411971	0.63	[{'connected_gene': 'GAPDHP70', 'score': 550.77}, {'connected_gene': 'ENSG00000255241', 'score': 9.59}, {'connected_gene': 'ENSG00000255102', 'score': 9.59}, {'connected_gene': 'ENSG00000206690', 'score': 9.59}, {'connected_gene': 'CTSC', 'score': 9.11}, {'connected_gene': 'GC11P088452', 'score': 0.26}, {'connected_gene': 'LOC101929174', 'score': 0.19}]
chr11	GH11I088418	88418479	88422715	1.53	[{'connected_gene': 'CTSC', 'score': 9.4}, {'connected_gene': 'GAPDHP70', 'score': 0.39}, {'connected_gene': 'GC11P088452', 'score': 0.29}, {'connected_gene': 'LOC101929174', 'score': 0.18}]
chr11	GH11I088405	88404393	88404542	0.4	[{'connected_gene': 'CTSC', 'score': 4.71}, {'connected_gene': 'GC11M088400', 'score': 0.77}, {'connected_gene': 'GAPDHP70', 'score': 0.77}, {'connected_gene': 'LOC101929174', 'score': 0.2}]
chr11	GH11I088404	88404549	88405923	0.4	[{'connected_gene': 'CTSC', 'score': 8.36}, {'connected_gene': 'GC11M088400', 'score': 0.77}, {'connected_gene': 'GAPDHP70', 'score': 0.77}, {'connected_gene': 'LOC101929174', 'score': 0.2}]
chr11	GH11I088434	88434785	88435541	0.79	[{'connected_gene': 'CTSC', 'score': 4.64}, {'connected_gene': 'GC11P088452', 'score': 0.37}, {'connected_gene': 'GAPDHP70', 'score': 0.31}]
chr11	GH11I088232	88232013	88232162	0.46	[{'connected_gene': 'CTSC', 'score': 12.03}, {'connected_gene': 'RAB38', 'score': 7.03}, {'connected_gene': 'GC11M088197', 'score': 0.29}, {'connected_gene': 'GC11P088152', 'score': 0.18}]
chr11	GH11I088334	88334784	88339194	2.32	[{'connected_gene': 'CTSC', 'score': 570.95}, {'connected_gene': 'LOC101929174', 'score': 550.77}, {'connected_gene': 'GAPDHP70', 'score': 7.23}, {'connected_gene': 'GC11M088197', 'score': 0.12}]
chr11	GH11I088348	88348805	88349630	0.43	[{'connected_gene': 'CTSC', 'score': 19.36}, {'connected_gene': 'GC11M088362', 'score': 0.39}, {'connected_gene': 'LOC101929174', 'score': 0.39}]
chr11	GH11I088353	88353802	88355262	1.16	[{'connected_gene': 'CTSC', 'score': 10.48}, {'connected_gene': 'GC11M088362', 'score': 0.44}, {'connected_gene': 'LOC101929174', 'score': 0.37}]
chr11	GH11I088355	88355908	88356198	0.48	[{'connected_gene': 'CTSC', 'score': 10.02}, {'connected_gene': 'GC11M088362', 'score': 0.44}, {'connected_gene': 'LOC101929174', 'score': 0.37}]
chr11	GH11I088357	88357051	88358701	1.16	[{'connected_gene': 'CTSC', 'score': 22.11}, {'connected_gene': 'GC11M088362', 'score': 0.44}, {'connected_gene': 'LOC101929174', 'score': 0.34}]
chr11	GH11I088359	88359252	88360156	1.05	[{'connected_gene': 'CTSC', 'score': 17.57}, {'connected_gene': 'GC11M088362', 'score': 0.77}, {'connected_gene': 'LOC101929174', 'score': 0.34}]
chr11	GH11I088383	88383518	88385240	0.68	[{'connected_gene': 'CTSC', 'score': 11.21}, {'connected_gene': 'GRM5-AS1', 'score': 10.39}, {'connected_gene': 'GC11M088378', 'score': 0.44}, {'connected_gene': 'GC11M088400', 'score': 0.37}, {'connected_gene': 'LOC101929174', 'score': 0.25}]
chr11	GH11I088300	88300546	88304080	1.23	[{'connected_gene': 'CTSC', 'score': 31.37}, {'connected_gene': 'GRM5-AS1', 'score': 10.41}, {'connected_gene': 'ENSG00000255241', 'score': 9.86}, {'connected_gene': 'ENSG00000255102', 'score': 9.86}, {'connected_gene': 'ENSG00000206690', 'score': 9.86}, {'connected_gene': 'GC11M088197', 'score': 0.15}]
chr11	GH11I088312	88312376	88313223	0.2	[{'connected_gene': 'CTSC', 'score': 19.56}, {'connected_gene': 'GRM5-AS1', 'score': 9.71}, {'connected_gene': 'GC11M088197', 'score': 0.14}]
chr11	GH11I088484	88484893	88485921	1.01	[{'connected_gene': 'CTSC', 'score': 4.44}, {'connected_gene': 'GRM5-AS1', 'score': 0.37}, {'connected_gene': 'GC11P088468', 'score': 0.37}]
chr11	GH11I088310	88310872	88311584	0.2	[{'connected_gene': 'CTSC', 'score': 30.32}, {'connected_gene': 'GRM5-AS1', 'score': 9.71}, {'connected_gene': 'GC11M088197', 'score': 0.14}]
chr11	GH11I088309	88309828	88310817	0.31	[{'connected_gene': 'CTSC', 'score': 31.61}, {'connected_gene': 'GRM5-AS1', 'score': 10.01}, {'connected_gene': 'GC11M088197', 'score': 0.14}]
chr11	GH11I088482	88482146	88483125	0.2	[{'connected_gene': 'CTSC', 'score': 4.73}, {'connected_gene': 'GC11P088468', 'score': 0.39}, {'connected_gene': 'GRM5-AS1', 'score': 0.34}]
chr11	GH11I088319	88319876	88320969	1.07	[{'connected_gene': 'CTSC', 'score': 4.53}, {'connected_gene': 'GC11M088197', 'score': 0.13}]
chr11	GH11I088325	88325133	88325942	0.31	[{'connected_gene': 'CTSC', 'score': 0.39}, {'connected_gene': 'GC11M088197', 'score': 0.13}]
chr11	GH11I088306	88306356	88309510	1.18	[{'connected_gene': 'CTSC', 'score': 18.06}, {'connected_gene': 'GC11M088197', 'score': 0.14}]
chr11	GH11I088414	88414244	88416366	1.2	[{'connected_gene': 'GRM5-AS1', 'score': 10.58}, {'connected_gene': 'CTSC', 'score': 6.42}, {'connected_gene': 'GAPDHP70', 'score': 0.44}, {'connected_gene': 'GC11P088452', 'score': 0.28}, {'connected_gene': 'LOC101929174', 'score': 0.18}]
chr11	GH11I088344	88344946	88346052	0.52	[{'connected_gene': 'GRM5-AS1', 'score': 10.42}, {'connected_gene': 'CTSC', 'score': 10.32}, {'connected_gene': 'LOC101929174', 'score': 0.44}, {'connected_gene': 'GC11M088362', 'score': 0.37}]
chr11	GH11I088534	88534983	88539245	1.17	[{'connected_gene': 'GRM5-AS1', 'score': 11.13}, {'connected_gene': 'ENSG00000255241', 'score': 10.06}, {'connected_gene': 'ENSG00000255102', 'score': 10.06}, {'connected_gene': 'ENSG00000206690', 'score': 10.06}, {'connected_gene': 'CTSC', 'score': 6.49}, {'connected_gene': 'RNU6-16P', 'score': 0.18}, {'connected_gene': 'GC11M088613', 'score': 0.18}, {'connected_gene': 'GRM5', 'score': 0.03}]
chr11	GH11I088283	88283379	88285921	0.31	[{'connected_gene': 'GRM5-AS1', 'score': 10.62}, {'connected_gene': 'ENSG00000206690', 'score': 10.07}, {'connected_gene': 'ENSG00000255241', 'score': 10.06}, {'connected_gene': 'ENSG00000255102', 'score': 10.06}, {'connected_gene': 'CTSC', 'score': 0.23}, {'connected_gene': 'GC11M088197', 'score': 0.18}]
chr11	GH11I088150	88150722	88154226	0.56	[{'connected_gene': 'GC11P088152', 'score': 550.77}, {'connected_gene': 'RAB38', 'score': 13.38}, {'connected_gene': 'ENSG00000255241', 'score': 10.24}, {'connected_gene': 'ENSG00000255102', 'score': 10.24}, {'connected_gene': 'ENSG00000206690', 'score': 10.24}, {'connected_gene': 'GRM5-AS1', 'score': 9.1}, {'connected_gene': 'CTSC', 'score': 4.66}, {'connected_gene': 'ENSG00000279733', 'score': 0.37}]
chr11	GH11I088401	88401757	88403862	0.85	[{'connected_gene': 'GC11M088400', 'score': 550.77}, {'connected_gene': 'CTSC', 'score': 8.83}, {'connected_gene': 'GAPDHP70', 'score': 5.49}, {'connected_gene': 'LOC101929174', 'score': 0.21}]
chr11	GH11I088363	88363401	88364200	0.83	[{'connected_gene': 'GC11M088362', 'score': 550.77}, {'connected_gene': 'GC11M088363', 'score': 550.77}, {'connected_gene': 'CTSC', 'score': 10.04}, {'connected_gene': 'GC11M088378', 'score': 0.37}, {'connected_gene': 'LOC101929174', 'score': 0.31}]
chr11	GH11I088246	88246529	88247558	0.2	[{'connected_gene': 'ENSG00000255241', 'score': 10.09}, {'connected_gene': 'ENSG00000255102', 'score': 10.09}, {'connected_gene': 'ENSG00000206690', 'score': 10.09}, {'connected_gene': 'CTSC', 'score': 9.2}, {'connected_gene': 'GC11M088197', 'score': 0.25}]