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
ENST00000380996	[[2421717, 2422028], [2423523, 2423680], [2423840, 2423882], [2424074, 2425106]]	[[2423863, 2423882], [2424074, 2424853]]
ENST00000333256	[[2421765, 2422028], [2423523, 2423680], [2423840, 2425106]]	[[2423863, 2424853]]
ENST00000380992	[[2421857, 2422028], [2423205, 2423377], [2423523, 2423680], [2423840, 2423882], [2424074, 2424379], [2424786, 2424931]]	[[2423863, 2423882], [2424074, 2424379], [2424786, 2424846]]
ENST00000437110	[[2421985, 2422028], [2423068, 2423209], [2423523, 2423680], [2423840, 2424473]]	[[2423863, 2424473]]
ENST00000435795	[[2421992, 2422028], [2423068, 2423377], [2423523, 2423680], [2423840, 2424201]]	[[2423863, 2424201]]
ENST00000485682	[[2422247, 2422715], [2423523, 2423680], [2423840, 2424194]]	[[2423863, 2424194]]
ENST00000440813	[[2423329, 2423377], [2423523, 2423680], [2423840, 2423882], [2424074, 2424678]]	[[2423863, 2423882], [2424074, 2424678]]
ENST00000496468	[[2423365, 2423680], [2423840, 2424437]]	[[2423863, 2424437]]
ENST00000451491	[[2423522, 2423680], [2423840, 2425105]]	[[2423863, 2424853]]
ENST00000467308	[[2424330, 2424379], [2424746, 2425106]]	None
NM_001297661	[[2421717, 2422028], [2423523, 2423680], [2423840, 2423882], [2424074, 2425108]]	[[2423863, 2423882], [2424074, 2424853]]
NM_005706	[[2421717, 2422028], [2423523, 2423680], [2423840, 2425108]]	[[2423863, 2424853]]
NM_001297660	[[2421717, 2422028], [2423068, 2423209], [2423523, 2423680], [2423840, 2425108]]	[[2423863, 2424853]]
NM_001297658	[[2421717, 2422028], [2423068, 2423377], [2423523, 2423680], [2423840, 2425108]]	[[2423863, 2424853]]
NM_001297659	[[2422247, 2422715], [2423523, 2423680], [2423840, 2425108]]	[[2423863, 2424853]]

Promoter

Chrom	Start	End	Description
chr11	2421953	2422010	CAGE_peak_1_at_TSSC4_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr11	GH11I003055	3055403	3059595	2.26	[{'connected_gene': 'CARS', 'score': 556.41}, {'connected_gene': 'NUP98', 'score': 23.81}, {'connected_gene': 'ENSG00000183562', 'score': 16.61}, {'connected_gene': 'NAP1L4', 'score': 16.01}, {'connected_gene': 'TSSC4', 'score': 11.31}, {'connected_gene': 'RNU1-91P', 'score': 0.44}, {'connected_gene': 'GC11M003048', 'score': 0.44}]
chr11	GH11I002428	2428311	2428480	0.86	[{'connected_gene': 'TNNT3', 'score': 13.61}, {'connected_gene': 'H19', 'score': 12.3}, {'connected_gene': 'OSBPL5', 'score': 11.14}, {'connected_gene': 'TSSC4', 'score': 10.6}, {'connected_gene': 'TSSC2', 'score': 10.56}, {'connected_gene': 'TRPM5', 'score': 0.44}, {'connected_gene': 'GC11P002420', 'score': 0.44}]
chr11	GH11I001915	1915425	1915812	0.47	[{'connected_gene': 'TNNI2', 'score': 6.61}, {'connected_gene': 'LSP1', 'score': 6.61}, {'connected_gene': 'C11orf21', 'score': 3.38}, {'connected_gene': 'TSPAN32', 'score': 2.0}, {'connected_gene': 'TSSC4', 'score': 1.38}, {'connected_gene': 'TNNT3', 'score': 0.77}, {'connected_gene': 'LINC01150', 'score': 0.37}]
chr11	GH11I003377	3377522	3382131	2.25	[{'connected_gene': 'TSSC2', 'score': 584.22}, {'connected_gene': 'ZNF195', 'score': 583.4}, {'connected_gene': 'NUP98', 'score': 21.74}, {'connected_gene': 'RRM1', 'score': 13.6}, {'connected_gene': 'TSSC4', 'score': 13.25}]
chr11	GH11I001770	1770041	1773855	1.65	[{'connected_gene': 'SNORA52', 'score': 26.44}, {'connected_gene': 'TSPAN4', 'score': 25.02}, {'connected_gene': 'PIDD1', 'score': 22.73}, {'connected_gene': 'IFITM10', 'score': 17.91}, {'connected_gene': 'TNNI2', 'score': 17.45}, {'connected_gene': 'ENSG00000255142', 'score': 12.46}, {'connected_gene': 'SYT8', 'score': 11.4}, {'connected_gene': 'KRTAP5-6', 'score': 11.06}, {'connected_gene': 'LOC100505570', 'score': 11.04}, {'connected_gene': 'FAM99B', 'score': 11.03}, {'connected_gene': 'RPLP2', 'score': 10.43}, {'connected_gene': 'TSSC4', 'score': 10.31}, {'connected_gene': 'RPL26P30', 'score': 10.1}, {'connected_gene': 'LSP1', 'score': 9.87}, {'connected_gene': 'ENSG00000235027', 'score': 7.01}, {'connected_gene': 'TOLLIP', 'score': 2.08}, {'connected_gene': 'CTSD', 'score': 1.83}, {'connected_gene': 'MOB2', 'score': 1.45}, {'connected_gene': 'LOC105376517', 'score': 0.44}]
chr11	GH11I002889	2889110	2893537	1.39	[{'connected_gene': 'NUP98', 'score': 15.66}, {'connected_gene': 'TSSC4', 'score': 11.32}, {'connected_gene': 'NAP1L4', 'score': 4.77}, {'connected_gene': 'CDKN1C', 'score': 0.44}, {'connected_gene': 'SLC22A18', 'score': 0.44}, {'connected_gene': 'SLC22A18AS', 'score': 0.39}]
chr11	GH11I002799	2799739	2800626	0.59	[{'connected_gene': 'NUP98', 'score': 15.66}, {'connected_gene': 'TSSC4', 'score': 11.33}, {'connected_gene': 'COX6CP18', 'score': 0.31}, {'connected_gene': 'KCNQ1-AS1', 'score': 0.21}, {'connected_gene': 'KCNQ1', 'score': 0.05}]
chr11	GH11I002444	2444400	2448170	2.14	[{'connected_gene': 'KCNQ1', 'score': 559.28}, {'connected_gene': 'GC11P002446', 'score': 550.77}, {'connected_gene': 'GC11P002445', 'score': 550.77}, {'connected_gene': 'C11orf21', 'score': 7.68}, {'connected_gene': 'TSPAN32', 'score': 6.34}, {'connected_gene': 'TSSC4', 'score': 1.3}, {'connected_gene': 'GC11M002505', 'score': 0.2}]
chr11	GH11I002139	2139618	2152660	2.02	[{'connected_gene': 'IGF2', 'score': 556.82}, {'connected_gene': 'TSSC4', 'score': 13.29}, {'connected_gene': 'ENSG00000199550', 'score': 10.95}, {'connected_gene': 'CD81', 'score': 10.95}, {'connected_gene': 'LSP1', 'score': 10.84}, {'connected_gene': 'LOC100505570', 'score': 10.59}, {'connected_gene': 'KRTAP5-6', 'score': 10.59}, {'connected_gene': 'FAM99B', 'score': 10.59}, {'connected_gene': 'KRTAP5-5', 'score': 9.81}, {'connected_gene': 'TH', 'score': 6.71}, {'connected_gene': 'TNNT3', 'score': 6.48}, {'connected_gene': 'DUSP8', 'score': 5.39}, {'connected_gene': 'ENSG00000236710', 'score': 4.74}, {'connected_gene': 'IGF2-AS', 'score': 0.44}, {'connected_gene': 'GC11M002158', 'score': 0.44}, {'connected_gene': 'GC11M002156', 'score': 0.44}, {'connected_gene': 'INS-IGF2', 'score': 0.37}]
chr11	GH11I002822	2822924	2823213	0.34	[{'connected_gene': 'KCNQ1-AS1', 'score': 12.2}, {'connected_gene': 'KCNQ1DN', 'score': 12.17}, {'connected_gene': 'TSSC4', 'score': 2.64}, {'connected_gene': 'KCNQ1', 'score': 1.48}, {'connected_gene': 'COX6CP18', 'score': 0.23}]
chr11	GH11I002724	2724592	2732028	1.57	[{'connected_gene': 'KCNQ1OT1', 'score': 12.8}, {'connected_gene': 'KCNQ1DN', 'score': 12.03}, {'connected_gene': 'TSSC4', 'score': 2.55}, {'connected_gene': 'COX6CP18', 'score': 0.26}, {'connected_gene': 'KCNQ1', 'score': 0.06}]
chr11	GH11I002398	2398211	2402676	2.28	[{'connected_gene': 'TSSC4', 'score': 550.77}, {'connected_gene': 'GC11M002398', 'score': 550.77}, {'connected_gene': 'CD81', 'score': 8.49}, {'connected_gene': 'PIR51817', 'score': 0.77}]
chr11	GH11I001962	1962482	1972699	1.99	[{'connected_gene': 'MRPL23-AS1', 'score': 17.72}, {'connected_gene': 'IGF2', 'score': 7.76}, {'connected_gene': 'TH', 'score': 5.64}, {'connected_gene': 'TNNI2', 'score': 2.17}, {'connected_gene': 'TNNT3', 'score': 1.6}, {'connected_gene': 'TSSC4', 'score': 1.53}, {'connected_gene': 'SYT8', 'score': 1.26}, {'connected_gene': 'GC11P001973', 'score': 0.44}, {'connected_gene': 'GC11P001949', 'score': 0.37}, {'connected_gene': 'MRPL23', 'score': 0.34}]
chr11	GH11I002986	2986838	2993418	2.23	[{'connected_gene': 'ENSG00000183562', 'score': 572.04}, {'connected_gene': 'NAP1L4', 'score': 564.02}, {'connected_gene': 'CARS', 'score': 17.42}, {'connected_gene': 'NUP98', 'score': 15.66}, {'connected_gene': 'SLC22A18', 'score': 11.4}, {'connected_gene': 'TSSC4', 'score': 11.31}, {'connected_gene': 'SNORA54', 'score': 10.87}, {'connected_gene': 'PHLDA2', 'score': 6.09}, {'connected_gene': 'GC11M002982', 'score': 0.39}]
chr11	GH11I002696	2696454	2696900	0.46	[{'connected_gene': 'ENSG00000276015', 'score': 550.77}, {'connected_gene': 'GC11P002696', 'score': 550.77}, {'connected_gene': 'ENSG00000235027', 'score': 5.28}, {'connected_gene': 'TSSC4', 'score': 1.85}, {'connected_gene': 'KCNQ1', 'score': 1.79}, {'connected_gene': 'TRPM5', 'score': 1.61}, {'connected_gene': 'KCNQ1OT1', 'score': 0.77}]