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
ENST00000375856	[[110406183, 110408655], [110434388, 110438915]]	[[110408650, 110408655], [110434388, 110438400]]
NM_003749	[[110406183, 110408655], [110434388, 110438914]]	[[110408650, 110408655], [110434388, 110438400]]

Promoter

Chrom	Start	End	Description
chr13	110438543	110438565	CAGE_peak_4_at_IRS2_5end
chr13	110438720	110438731	CAGE_peak_10_at_IRS2_5end
chr13	110438914	110438937	CAGE_peak_1_at_IRS2_5end
chr13	110438940	110438981	CAGE_peak_2_at_IRS2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr13	GH13I109145	109145132	109149614	1.12	[{'connected_gene': 'IRS2', 'score': 11.01}, {'connected_gene': 'MYO16', 'score': 5.52}, {'connected_gene': 'LOC105370356', 'score': 0.77}, {'connected_gene': 'MYO16-AS2', 'score': 0.25}]
chr13	GH13I109790	109790784	109792083	1.46	[{'connected_gene': 'IRS2', 'score': 9.71}, {'connected_gene': 'ENSG00000275741', 'score': 0.44}, {'connected_gene': 'LOC105370360', 'score': 0.44}]
chr13	GH13I109788	109788401	109789399	1.32	[{'connected_gene': 'IRS2', 'score': 3.49}, {'connected_gene': 'ENSG00000275741', 'score': 0.77}, {'connected_gene': 'LOC105370360', 'score': 0.44}]
chr13	GH13I109698	109698601	109699279	0.49	[{'connected_gene': 'IRS2', 'score': 11.64}, {'connected_gene': 'PIR55972', 'score': 0.39}, {'connected_gene': 'LOC105370359', 'score': 0.29}, {'connected_gene': 'LOC101927627', 'score': 0.14}]
chr13	GH13I109387	109387574	109387765	0.39	[{'connected_gene': 'IRS2', 'score': 2.69}, {'connected_gene': 'LINC00399', 'score': 0.39}, {'connected_gene': 'LINC01067', 'score': 0.18}, {'connected_gene': 'LOC105370359', 'score': 0.05}]
chr13	GH13I109389	109389211	109391175	1.23	[{'connected_gene': 'IRS2', 'score': 5.46}, {'connected_gene': 'LINC00399', 'score': 0.39}, {'connected_gene': 'LINC01067', 'score': 0.18}, {'connected_gene': 'LOC105370359', 'score': 0.05}]
chr13	GH13I109411	109411994	109413232	1.1	[{'connected_gene': 'IRS2', 'score': 9.82}, {'connected_gene': 'LINC00399', 'score': 0.39}, {'connected_gene': 'PIR52283', 'score': 0.13}, {'connected_gene': 'LOC105370359', 'score': 0.06}]
chr13	GH13I109403	109403034	109403290	0.95	[{'connected_gene': 'IRS2', 'score': 9.79}, {'connected_gene': 'LINC00399', 'score': 0.77}, {'connected_gene': 'PIR52283', 'score': 0.12}, {'connected_gene': 'LOC105370359', 'score': 0.05}]
chr13	GH13I109528	109528929	109529118	0.23	[{'connected_gene': 'IRS2', 'score': 2.13}, {'connected_gene': 'PIR52283', 'score': 0.39}, {'connected_gene': 'LINC00399', 'score': 0.13}, {'connected_gene': 'LOC105370359', 'score': 0.08}]
chr13	GH13I110005	110005190	110006968	0.8	[{'connected_gene': 'IRS2', 'score': 6.66}, {'connected_gene': 'ENSG00000274331', 'score': 0.37}, {'connected_gene': 'ENSG00000276269', 'score': 0.31}, {'connected_gene': 'LOC101927646', 'score': 0.23}]
chr13	GH13I110010	110010215	110018767	1.37	[{'connected_gene': 'IRS2', 'score': 8.27}, {'connected_gene': 'ENSG00000276269', 'score': 0.37}, {'connected_gene': 'ENSG00000274331', 'score': 0.31}, {'connected_gene': 'LOC101927646', 'score': 0.26}]
chr13	GH13I110023	110023507	110024712	0.83	[{'connected_gene': 'IRS2', 'score': 19.41}, {'connected_gene': 'ENSG00000276269', 'score': 0.44}, {'connected_gene': 'LOC101927646', 'score': 0.29}, {'connected_gene': 'ENSG00000274331', 'score': 0.28}]
chr13	GH13I110001	110000792	110002487	0.52	[{'connected_gene': 'IRS2', 'score': 6.66}, {'connected_gene': 'ENSG00000274331', 'score': 0.37}, {'connected_gene': 'ENSG00000276269', 'score': 0.31}, {'connected_gene': 'LOC101927646', 'score': 0.22}]
chr13	GH13I109622	109622371	109622389	0.22	[{'connected_gene': 'IRS2', 'score': 14.02}, {'connected_gene': 'LOC101927627', 'score': 0.29}, {'connected_gene': 'PIR55972', 'score': 0.16}, {'connected_gene': 'LOC105370359', 'score': 0.14}]
chr13	GH13I109650	109650960	109651098	0.34	[{'connected_gene': 'IRS2', 'score': 11.54}, {'connected_gene': 'PIR55972', 'score': 0.21}, {'connected_gene': 'LOC101927627', 'score': 0.21}, {'connected_gene': 'LOC105370359', 'score': 0.18}]
chr13	GH13I109646	109646836	109647449	0.72	[{'connected_gene': 'IRS2', 'score': 11.28}, {'connected_gene': 'LOC101927627', 'score': 0.22}, {'connected_gene': 'PIR55972', 'score': 0.2}, {'connected_gene': 'LOC105370359', 'score': 0.18}]
chr13	GH13I109651	109651760	109652309	0.48	[{'connected_gene': 'IRS2', 'score': 28.16}, {'connected_gene': 'PIR55972', 'score': 0.21}, {'connected_gene': 'LOC101927627', 'score': 0.21}, {'connected_gene': 'LOC105370359', 'score': 0.18}]
chr13	GH13I109575	109575855	109577083	0.75	[{'connected_gene': 'IRS2', 'score': 10.89}, {'connected_gene': 'LOC101927627', 'score': 0.39}, {'connected_gene': 'PIR52283', 'score': 0.28}, {'connected_gene': 'LOC105370359', 'score': 0.1}]
chr13	GH13I109645	109645801	109646200	0.31	[{'connected_gene': 'IRS2', 'score': 11.0}, {'connected_gene': 'LOC101927627', 'score': 0.22}, {'connected_gene': 'PIR55972', 'score': 0.2}, {'connected_gene': 'LOC105370359', 'score': 0.17}]
chr13	GH13I109653	109653002	109656399	1.04	[{'connected_gene': 'IRS2', 'score': 18.23}, {'connected_gene': 'PIR55972', 'score': 0.22}, {'connected_gene': 'LOC101927627', 'score': 0.21}, {'connected_gene': 'LOC105370359', 'score': 0.18}]
chr13	GH13I109652	109652401	109652600	0.2	[{'connected_gene': 'IRS2', 'score': 11.54}, {'connected_gene': 'PIR55972', 'score': 0.21}, {'connected_gene': 'LOC101927627', 'score': 0.21}, {'connected_gene': 'LOC105370359', 'score': 0.18}]
chr13	GH13I109715	109715867	109716663	0.8	[{'connected_gene': 'IRS2', 'score': 12.7}, {'connected_gene': 'LINC00676', 'score': 4.99}, {'connected_gene': 'PIR42895', 'score': 0.77}, {'connected_gene': 'PIR55972', 'score': 0.77}, {'connected_gene': 'LOC105370359', 'score': 0.37}]
chr13	GH13I109153	109153439	109162770	1.56	[{'connected_gene': 'IRS2', 'score': 11.01}, {'connected_gene': 'MYO16-AS1', 'score': 7.72}, {'connected_gene': 'MYO16', 'score': 6.25}, {'connected_gene': 'LOC105370356', 'score': 0.44}]
chr13	GH13I109944	109944978	109946683	0.43	[{'connected_gene': 'IRS2', 'score': 4.72}, {'connected_gene': 'RN7SKP10', 'score': 0.29}, {'connected_gene': 'ENSG00000274331', 'score': 0.26}]
chr13	GH13I109836	109836194	109837468	0.57	[{'connected_gene': 'IRS2', 'score': 10.88}, {'connected_gene': 'ENSG00000275248', 'score': 0.29}, {'connected_gene': 'GC13P109869', 'score': 0.29}]
chr13	GH13I109776	109776601	109788230	2.67	[{'connected_gene': 'IRS2', 'score': 562.05}, {'connected_gene': 'ENSG00000275741', 'score': 0.77}, {'connected_gene': 'GC13M109755', 'score': 0.31}]
chr13	GH13I109839	109839265	109841601	0.82	[{'connected_gene': 'IRS2', 'score': 11.0}, {'connected_gene': 'GC13P109869', 'score': 0.31}, {'connected_gene': 'ENSG00000275248', 'score': 0.28}]
chr13	GH13I109843	109843855	109845190	0.31	[{'connected_gene': 'IRS2', 'score': 10.71}, {'connected_gene': 'GC13P109869', 'score': 0.34}, {'connected_gene': 'ENSG00000275248', 'score': 0.28}]
chr13	GH13I110136	110136132	110139238	1.65	[{'connected_gene': 'RAB20', 'score': 10.18}, {'connected_gene': 'IRS2', 'score': 9.83}, {'connected_gene': 'LOC101927712', 'score': 0.77}, {'connected_gene': 'LOC105370361', 'score': 0.37}]
chr13	GH13I110242	110242626	110252114	1.31	[{'connected_gene': 'COL4A1', 'score': 13.05}, {'connected_gene': 'COL4A2', 'score': 12.8}, {'connected_gene': 'RAB20', 'score': 10.14}, {'connected_gene': 'IRS2', 'score': 9.3}, {'connected_gene': 'ENSG00000279237', 'score': 0.37}, {'connected_gene': 'LOC101927712', 'score': 0.14}]
chr13	GH13I109699	109699755	109700860	1.24	[{'connected_gene': 'LINC00676', 'score': 11.91}, {'connected_gene': 'IRS2', 'score': 11.57}, {'connected_gene': 'PIR55972', 'score': 0.39}, {'connected_gene': 'LOC105370359', 'score': 0.29}, {'connected_gene': 'LOC101927627', 'score': 0.14}]
chr13	GH13I109704	109704092	109707904	1.41	[{'connected_gene': 'LINC00676', 'score': 17.44}, {'connected_gene': 'IRS2', 'score': 13.46}, {'connected_gene': 'PIR55972', 'score': 0.44}, {'connected_gene': 'LOC105370359', 'score': 0.31}, {'connected_gene': 'LOC101927627', 'score': 0.13}]
chr13	GH13I109684	109684000	109685647	1.17	[{'connected_gene': 'LINC00676', 'score': 12.05}, {'connected_gene': 'IRS2', 'score': 11.44}, {'connected_gene': 'PIR55972', 'score': 0.31}, {'connected_gene': 'LOC105370359', 'score': 0.25}, {'connected_gene': 'LOC101927627', 'score': 0.16}]
chr13	GH13I109686	109686807	109688383	0.62	[{'connected_gene': 'LINC00676', 'score': 12.05}, {'connected_gene': 'IRS2', 'score': 11.45}, {'connected_gene': 'PIR55972', 'score': 0.31}, {'connected_gene': 'LOC105370359', 'score': 0.26}, {'connected_gene': 'LOC101927627', 'score': 0.15}]
chr13	GH13I109791	109790001	109790478	0.83	[{'connected_gene': 'ENSG00000275741', 'score': 0.77}, {'connected_gene': 'IRS2', 'score': 0.77}, {'connected_gene': 'LOC105370360', 'score': 0.44}]
chr13	GH13I109789	109789434	109789583	0.58	[{'connected_gene': 'ENSG00000275741', 'score': 0.77}, {'connected_gene': 'IRS2', 'score': 0.77}, {'connected_gene': 'LOC105370360', 'score': 0.44}]
chr13	GH13I109868	109868969	109871084	1.2	[{'connected_gene': 'GC13P109869', 'score': 550.77}, {'connected_gene': 'IRS2', 'score': 10.11}, {'connected_gene': 'RN7SKP10', 'score': 0.25}]
chr13	GH13I109756	109756914	109757063	0.51	[{'connected_gene': 'GC13M109755', 'score': 550.77}, {'connected_gene': 'ENSG00000275741', 'score': 0.31}, {'connected_gene': 'IRS2', 'score': 0.31}]
chr13	GH13I109766	109766652	109767781	0.2	[{'connected_gene': 'GC13M109755', 'score': 0.39}, {'connected_gene': 'ENSG00000275741', 'score': 0.37}, {'connected_gene': 'IRS2', 'score': 0.37}]
chr13	GH13I109763	109763943	109765623	0.94	[{'connected_gene': 'GC13M109755', 'score': 0.44}, {'connected_gene': 'ENSG00000275741', 'score': 0.34}, {'connected_gene': 'IRS2', 'score': 0.34}]
chr13	GH13I109753	109753970	109754266	0.4	[{'connected_gene': 'GC13M109755', 'score': 550.77}, {'connected_gene': 'LOC105370359', 'score': 0.34}, {'connected_gene': 'IRS2', 'score': 0.29}]