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
ENST00000257981	[[49932939, 49933275], [49934681, 49934915], [49935412, 49935547], [49936488, 49936622], [49937057, 49937301], [49937697, 49937855], [49937957, 49938165], [49942677, 49942956], [49943223, 49943423], [49943862, 49944112], [49948119, 49948337], [49949402, 49949734], [49950152, 49950259], [49950965, 49951042], [49951136, 49952091]]	[[49933199, 49933275], [49934681, 49934915], [49935412, 49935547], [49936488, 49936622], [49937057, 49937301], [49937697, 49937855], [49937957, 49938165], [49942677, 49942956], [49943223, 49943423], [49943862, 49944112], [49948119, 49948337], [49949402, 49949734], [49950152, 49950259], [49950965, 49951042], [49951136, 49951736]]
ENST00000551415	[[49938036, 49938165], [49939920, 49940023]]	None
ENST00000550434	[[49934876, 49934915], [49935412, 49935547], [49936488, 49936622], [49937057, 49937301], [49937564, 49937661]]	None
ENST00000548675	[[49949954, 49950259], [49950965, 49951042], [49951136, 49951420]]	None
NM_001314030	[[49932939, 49933275], [49934685, 49934915], [49935412, 49935547], [49936488, 49936622], [49937057, 49937301], [49937697, 49937855], [49937957, 49938165], [49942677, 49942956], [49943223, 49943423], [49943862, 49944112], [49948119, 49948337], [49949402, 49949734], [49950152, 49950259], [49950965, 49951042], [49951136, 49952095]]	[[49934785, 49934915], [49935412, 49935547], [49936488, 49936622], [49937057, 49937301], [49937697, 49937855], [49937957, 49938165], [49942677, 49942956], [49943223, 49943423], [49943862, 49944112], [49948119, 49948337], [49949402, 49949734], [49950152, 49950259], [49950965, 49951042], [49951136, 49951736]]
NM_012284	[[49932939, 49933275], [49934681, 49934915], [49935412, 49935547], [49936488, 49936622], [49937057, 49937301], [49937697, 49937855], [49937957, 49938165], [49942677, 49942956], [49943223, 49943423], [49943862, 49944112], [49948119, 49948337], [49949402, 49949734], [49950152, 49950259], [49950965, 49951042], [49951136, 49952095]]	[[49933199, 49933275], [49934681, 49934915], [49935412, 49935547], [49936488, 49936622], [49937057, 49937301], [49937697, 49937855], [49937957, 49938165], [49942677, 49942956], [49943223, 49943423], [49943862, 49944112], [49948119, 49948337], [49949402, 49949734], [49950152, 49950259], [49950965, 49951042], [49951136, 49951736]]

Promoter

Chrom	Start	End	Description
chr12	49932805	49932858	CAGE_peak_1_at_KCNH3_5end
chr12	49932864	49932871	CAGE_peak_3_at_KCNH3_5end
chr12	49932886	49932897	CAGE_peak_2_at_KCNH3_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr12	GH12I049555	49555990	49557291	0.54	[{'connected_gene': 'FMNL3', 'score': 10.39}, {'connected_gene': 'TMBIM6', 'score': 10.03}, {'connected_gene': 'DNAJC22', 'score': 7.78}, {'connected_gene': 'GC12M049547', 'score': 0.77}, {'connected_gene': 'LOC105369761', 'score': 0.77}, {'connected_gene': 'GC12M049558', 'score': 0.77}, {'connected_gene': 'GC12M049559', 'score': 0.77}, {'connected_gene': 'MCRS1', 'score': 0.39}, {'connected_gene': 'KCNH3', 'score': 0.37}]
chr12	GH12I049548	49548540	49551607	1.12	[{'connected_gene': 'FMNL3', 'score': 10.03}, {'connected_gene': 'TMBIM6', 'score': 10.03}, {'connected_gene': 'SPATS2', 'score': 6.37}, {'connected_gene': 'LOC105369761', 'score': 0.77}, {'connected_gene': 'GC12M049547', 'score': 0.44}, {'connected_gene': 'KCNH3', 'score': 0.39}]
chr12	GH12I049512	49512522	49513931	0.46	[{'connected_gene': 'DNAJC22', 'score': 18.52}, {'connected_gene': 'KCNH3', 'score': 12.06}, {'connected_gene': 'SPATS2', 'score': 11.74}, {'connected_gene': 'C1QL4', 'score': 11.14}, {'connected_gene': 'MCRS1', 'score': 10.72}, {'connected_gene': 'PRPH', 'score': 10.56}, {'connected_gene': 'FMNL3', 'score': 9.74}, {'connected_gene': 'TMBIM6', 'score': 9.38}, {'connected_gene': 'ENSG00000257464', 'score': 0.19}]
chr12	GH12I049364	49364697	49370567	2.29	[{'connected_gene': 'SPATS2', 'score': 559.85}, {'connected_gene': 'DDX23', 'score': 35.58}, {'connected_gene': 'CCNT1', 'score': 28.84}, {'connected_gene': 'KMT2D', 'score': 27.36}, {'connected_gene': 'LMBR1L', 'score': 26.29}, {'connected_gene': 'SMARCD1', 'score': 23.55}, {'connected_gene': 'LOC390314', 'score': 22.81}, {'connected_gene': 'TUBA1A', 'score': 12.9}, {'connected_gene': 'KANSL2', 'score': 12.6}, {'connected_gene': 'KCNH3', 'score': 11.95}, {'connected_gene': 'MCRS1', 'score': 10.47}, {'connected_gene': 'BCDIN3D', 'score': 9.7}, {'connected_gene': 'DNAJC22', 'score': 7.9}, {'connected_gene': 'PRPF40B', 'score': 5.46}, {'connected_gene': 'LOC100335030', 'score': 0.34}, {'connected_gene': 'GC12P049321', 'score': 0.25}]
chr12	GH12I049510	49510391	49512053	0.54	[{'connected_gene': 'SPATS2', 'score': 18.86}, {'connected_gene': 'KCNH3', 'score': 12.11}, {'connected_gene': 'DNAJC22', 'score': 6.98}, {'connected_gene': 'ENSG00000257464', 'score': 0.2}]
chr12	GH12I049515	49514763	49515963	0.96	[{'connected_gene': 'SPATS2', 'score': 17.41}, {'connected_gene': 'KCNH3', 'score': 12.05}, {'connected_gene': 'C1QL4', 'score': 11.14}, {'connected_gene': 'MCRS1', 'score': 10.99}, {'connected_gene': 'PRPH', 'score': 10.18}, {'connected_gene': 'FMNL3', 'score': 9.74}, {'connected_gene': 'TMBIM6', 'score': 9.38}, {'connected_gene': 'ENSG00000257464', 'score': 0.19}]
chr12	GH12I049514	49514001	49514401	0.88	[{'connected_gene': 'SPATS2', 'score': 17.41}, {'connected_gene': 'KCNH3', 'score': 12.05}, {'connected_gene': 'C1QL4', 'score': 11.14}, {'connected_gene': 'MCRS1', 'score': 10.72}, {'connected_gene': 'PRPH', 'score': 10.18}, {'connected_gene': 'FMNL3', 'score': 9.74}, {'connected_gene': 'TMBIM6', 'score': 9.38}, {'connected_gene': 'ENSG00000257464', 'score': 0.19}]
chr12	GH12I049501	49501728	49508789	1.04	[{'connected_gene': 'SPATS2', 'score': 18.45}, {'connected_gene': 'KCNH3', 'score': 12.09}, {'connected_gene': 'C1QL4', 'score': 10.81}, {'connected_gene': 'MCRS1', 'score': 10.72}, {'connected_gene': 'PRPH', 'score': 10.68}, {'connected_gene': 'DNAJC22', 'score': 8.08}, {'connected_gene': 'ENSG00000257464', 'score': 7.52}]
chr12	GH12I049482	49482201	49483122	1.03	[{'connected_gene': 'C1QL4', 'score': 10.1}, {'connected_gene': 'MCRS1', 'score': 9.47}, {'connected_gene': 'DNAJC22', 'score': 7.39}, {'connected_gene': 'ENSG00000257464', 'score': 7.31}, {'connected_gene': 'KCNH3', 'score': 0.22}, {'connected_gene': 'SPATS2', 'score': 0.13}]
chr12	GH12I049473	49473119	49473371	0.35	[{'connected_gene': 'PRPF40B', 'score': 1.61}, {'connected_gene': 'ENSG00000257464', 'score': 0.29}, {'connected_gene': 'KCNH3', 'score': 0.2}, {'connected_gene': 'SPATS2', 'score': 0.14}]
chr12	GH12I049540	49540658	49540787	0.74	[{'connected_gene': 'KCNH3', 'score': 550.77}, {'connected_gene': 'SPATS2', 'score': 6.88}, {'connected_gene': 'LOC105369761', 'score': 0.39}]
chr12	GH12I049358	49358601	49359200	1.01	[{'connected_gene': 'KCNH3', 'score': 11.61}, {'connected_gene': 'C1QL4', 'score': 11.28}, {'connected_gene': 'MCRS1', 'score': 10.75}, {'connected_gene': 'CCNT1', 'score': 5.11}, {'connected_gene': 'SPATS2', 'score': 0.44}, {'connected_gene': 'DNAJC22', 'score': 0.39}, {'connected_gene': 'GC12P049321', 'score': 0.28}]
chr12	GH12I049488	49488806	49492629	1.27	[{'connected_gene': 'KCNH3', 'score': 11.0}, {'connected_gene': 'MCRS1', 'score': 10.03}, {'connected_gene': 'SPATS2', 'score': 7.92}, {'connected_gene': 'C1QL4', 'score': 6.49}, {'connected_gene': 'DNAJC22', 'score': 5.23}, {'connected_gene': 'TUBA1C', 'score': 4.61}, {'connected_gene': 'ENSG00000257464', 'score': 0.25}]
chr12	GH12I049421	49421458	49421627	0.91	[{'connected_gene': 'KCNH3', 'score': 10.9}, {'connected_gene': 'MCRS1', 'score': 9.93}, {'connected_gene': 'ENSG00000257464', 'score': 0.34}, {'connected_gene': 'LOC100335030', 'score': 0.29}, {'connected_gene': 'SPATS2', 'score': 0.23}]
chr12	GH12I049422	49422278	49422427	0.64	[{'connected_gene': 'KCNH3', 'score': 10.9}, {'connected_gene': 'MCRS1', 'score': 9.93}, {'connected_gene': 'ENSG00000257464', 'score': 0.34}, {'connected_gene': 'LOC100335030', 'score': 0.29}, {'connected_gene': 'SPATS2', 'score': 0.22}]
chr12	GH12I049538	49538600	49539401	1.75	[{'connected_gene': 'KCNH3', 'score': 550.77}, {'connected_gene': 'ENSG00000257464', 'score': 0.15}]
chr12	GH12I049553	49553638	49553787	0.65	[{'connected_gene': 'LOC105369761', 'score': 550.77}, {'connected_gene': 'FMNL3', 'score': 10.03}, {'connected_gene': 'TMBIM6', 'score': 10.03}, {'connected_gene': 'TUBA1C', 'score': 4.97}, {'connected_gene': 'GC12M049559', 'score': 0.44}, {'connected_gene': 'GC12M049547', 'score': 0.44}, {'connected_gene': 'GC12M049558', 'score': 0.44}, {'connected_gene': 'KCNH3', 'score': 0.39}]
chr12	GH12I049518	49518536	49519877	0.7	[{'connected_gene': 'MCRS1', 'score': 11.16}, {'connected_gene': 'SPATS2', 'score': 10.97}, {'connected_gene': 'KCNH3', 'score': 0.37}, {'connected_gene': 'ENSG00000257464', 'score': 0.18}]
chr12	GH12I049389	49389001	49389600	0.76	[{'connected_gene': 'LOC100335030', 'score': 550.77}, {'connected_gene': 'KMT2D', 'score': 16.64}, {'connected_gene': 'DDX23', 'score': 16.44}, {'connected_gene': 'KANSL2', 'score': 15.91}, {'connected_gene': 'CCNT1', 'score': 15.51}, {'connected_gene': 'SMARCD1', 'score': 14.52}, {'connected_gene': 'LMBR1L', 'score': 14.38}, {'connected_gene': 'BCDIN3D', 'score': 14.34}, {'connected_gene': 'LOC390314', 'score': 13.98}, {'connected_gene': 'SPATS2', 'score': 11.74}, {'connected_gene': 'LOC101927267', 'score': 11.15}, {'connected_gene': 'KCNH3', 'score': 10.96}, {'connected_gene': 'C1QL4', 'score': 10.39}, {'connected_gene': 'LIMA1', 'score': 9.89}, {'connected_gene': 'ENSG00000257464', 'score': 0.23}, {'connected_gene': 'GC12P049321', 'score': 0.2}]