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
ENST00000234313	[[68592304, 68592525], [68607459, 68607615], [68607854, 68608036], [68609673, 68609765], [68613633, 68613818], [68615518, 68615623], [68620293, 68620377], [68621238, 68621308], [68622811, 68624585]]	[[68592483, 68592525], [68607459, 68607615], [68607854, 68608036], [68609673, 68609765], [68613633, 68613818], [68615518, 68615623], [68620293, 68620377], [68621238, 68621308], [68622811, 68622948]]
ENST00000474788	[[68615073, 68615623], [68620293, 68620377], [68621238, 68621308], [68622811, 68622849]]	None
NM_002664	[[68592321, 68592525], [68607459, 68607615], [68607854, 68608036], [68609673, 68609765], [68613633, 68613818], [68615518, 68615623], [68620293, 68620377], [68621238, 68621308], [68622811, 68624585]]	[[68592483, 68592525], [68607459, 68607615], [68607854, 68608036], [68609673, 68609765], [68613633, 68613818], [68615518, 68615623], [68620293, 68620377], [68621238, 68621308], [68622811, 68622948]]

Promoter

Chrom	Start	End	Description
chr2	68592206	68592211	CAGE_peak_9_at_PLEK_5end
chr2	68592394	68592405	CAGE_peak_2_at_PLEK_5end
chr2	68592406	68592424	CAGE_peak_1_at_PLEK_5end
chr2	68615031	68615055	CAGE_peak_3_at_PLEK_5end
chr2	68615063	68615089	CAGE_peak_4_at_PLEK_5end
chr2	68615096	68615115	CAGE_peak_5_at_PLEK_5end
chr2	68619202	68619227	CAGE_peak_6_at_PLEK_5end
chr2	68619491	68619507	CAGE_peak_7_at_PLEK_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr2	GH02I068761	68761046	68777713	2.47	[{'connected_gene': 'ARHGAP25', 'score': 576.31}, {'connected_gene': 'FBXO48', 'score': 16.58}, {'connected_gene': 'APLF', 'score': 15.73}, {'connected_gene': 'LINC01888', 'score': 12.22}, {'connected_gene': 'PLEK', 'score': 6.0}, {'connected_gene': 'LOC105374790', 'score': 0.44}]
chr2	GH02I068732	68732175	68744213	2.26	[{'connected_gene': 'ARHGAP25', 'score': 559.83}, {'connected_gene': 'PLEK', 'score': 14.91}, {'connected_gene': 'LINC01888', 'score': 11.81}, {'connected_gene': 'FBXO48', 'score': 7.07}, {'connected_gene': 'APLF', 'score': 3.52}, {'connected_gene': 'LOC105374790', 'score': 0.34}]
chr2	GH02I068833	68833801	68836599	1.36	[{'connected_gene': 'FBXO48', 'score': 22.96}, {'connected_gene': 'PLEK', 'score': 17.06}, {'connected_gene': 'LINC01890', 'score': 13.91}, {'connected_gene': 'APLF', 'score': 13.43}, {'connected_gene': 'ARHGAP25', 'score': 1.25}, {'connected_gene': 'LINC01888', 'score': 0.77}]
chr2	GH02I068375	68375036	68391543	1.59	[{'connected_gene': 'PLEK', 'score': 25.65}, {'connected_gene': 'FBXO48', 'score': 7.16}, {'connected_gene': 'APLF', 'score': 3.54}, {'connected_gene': 'ARHGAP25', 'score': 2.93}, {'connected_gene': 'PPP3R1', 'score': 2.46}, {'connected_gene': 'C1D', 'score': 2.29}, {'connected_gene': 'LOC101927723', 'score': 0.39}, {'connected_gene': 'LOC391383', 'score': 0.2}, {'connected_gene': 'GC02P067636', 'score': 0.03}]
chr2	GH02I068361	68361954	68370458	2.51	[{'connected_gene': 'PLEK', 'score': 569.63}, {'connected_gene': 'FBXO48', 'score': 5.11}, {'connected_gene': 'APLF', 'score': 4.9}, {'connected_gene': 'ARHGAP25', 'score': 3.56}, {'connected_gene': 'C1D', 'score': 2.81}, {'connected_gene': 'PPP3R1', 'score': 2.61}, {'connected_gene': 'LOC101927723', 'score': 0.77}, {'connected_gene': 'GC02P067636', 'score': 0.03}]
chr2	GH02I068418	68418784	68419638	0.74	[{'connected_gene': 'PLEK', 'score': 7.44}, {'connected_gene': 'LOC391383', 'score': 0.31}, {'connected_gene': 'LOC101927723', 'score': 0.25}, {'connected_gene': 'GC02P067636', 'score': 0.03}]
chr2	GH02I068414	68414302	68414546	0.77	[{'connected_gene': 'PLEK', 'score': 8.46}, {'connected_gene': 'LOC391383', 'score': 0.29}, {'connected_gene': 'LOC101927723', 'score': 0.26}, {'connected_gene': 'GC02P067636', 'score': 0.03}]
chr2	GH02I068805	68805642	68810625	1.51	[{'connected_gene': 'PLEK', 'score': 15.67}, {'connected_gene': 'LINC01888', 'score': 13.25}, {'connected_gene': 'BMP10', 'score': 10.69}, {'connected_gene': 'WDR92', 'score': 9.82}, {'connected_gene': 'ARHGAP25', 'score': 8.53}, {'connected_gene': 'FBXO48', 'score': 6.48}, {'connected_gene': 'LINC01890', 'score': 5.09}, {'connected_gene': 'APLF', 'score': 2.72}, {'connected_gene': 'LOC105374790', 'score': 0.25}]
chr2	GH02I068798	68798514	68800702	1.13	[{'connected_gene': 'PLEK', 'score': 12.97}, {'connected_gene': 'LINC01888', 'score': 12.33}, {'connected_gene': 'BMP10', 'score': 10.67}, {'connected_gene': 'LINC01890', 'score': 5.19}, {'connected_gene': 'FBXO48', 'score': 4.19}, {'connected_gene': 'ARHGAP25', 'score': 2.7}, {'connected_gene': 'APLF', 'score': 1.14}, {'connected_gene': 'LOC105374790', 'score': 0.28}]
chr2	GH02I068404	68404969	68405118	0.63	[{'connected_gene': 'PLEK', 'score': 6.83}, {'connected_gene': 'LOC101927723', 'score': 0.29}, {'connected_gene': 'LOC391383', 'score': 0.26}, {'connected_gene': 'GC02P067636', 'score': 0.02}]
chr2	GH02I068410	68410960	68414141	1.16	[{'connected_gene': 'PLEK', 'score': 19.21}, {'connected_gene': 'LOC101927723', 'score': 12.57}, {'connected_gene': 'CNRIP1', 'score': 8.28}, {'connected_gene': 'LOC391383', 'score': 0.28}, {'connected_gene': 'GC02P067636', 'score': 0.03}]
chr2	GH02I068354	68353314	68353410	0.46	[{'connected_gene': 'PLEK', 'score': 5.06}, {'connected_gene': 'GC02P068341', 'score': 0.39}, {'connected_gene': 'GC02P067636', 'score': 0.03}]
chr2	GH02I068351	68351169	68351251	0.2	[{'connected_gene': 'PLEK', 'score': 4.85}, {'connected_gene': 'GC02P068341', 'score': 0.44}, {'connected_gene': 'GC02P067636', 'score': 0.03}]
chr2	GH02I068357	68357801	68358400	1.08	[{'connected_gene': 'PLEK', 'score': 0.44}, {'connected_gene': 'GC02P068341', 'score': 0.37}, {'connected_gene': 'GC02P067636', 'score': 0.03}]
chr2	GH02I068402	68402457	68404600	1.03	[{'connected_gene': 'CNRIP1', 'score': 8.12}, {'connected_gene': 'PLEK', 'score': 4.86}, {'connected_gene': 'LOC101927723', 'score': 0.29}, {'connected_gene': 'LOC391383', 'score': 0.25}, {'connected_gene': 'GC02P067636', 'score': 0.02}]
chr2	GH02I068395	68395323	68397370	0.31	[{'connected_gene': 'CNRIP1', 'score': 8.13}, {'connected_gene': 'LOC101927723', 'score': 0.31}, {'connected_gene': 'PLEK', 'score': 0.29}, {'connected_gene': 'LOC391383', 'score': 0.23}, {'connected_gene': 'GC02P067636', 'score': 0.03}]
chr2	GH02I068423	68423494	68428599	1.63	[{'connected_gene': 'APLF', 'score': 4.21}, {'connected_gene': 'PROKR1', 'score': 3.21}, {'connected_gene': 'PLEK', 'score': 2.0}, {'connected_gene': 'FBXO48', 'score': 1.63}, {'connected_gene': 'LOC391383', 'score': 0.34}, {'connected_gene': 'LOC101927723', 'score': 0.22}, {'connected_gene': 'GC02P067636', 'score': 0.02}]
chr2	GH02I068861	68861469	68861643	0.36	[{'connected_gene': 'LINC01888', 'score': 11.76}, {'connected_gene': 'ARHGAP25', 'score': 4.73}, {'connected_gene': 'PLEK', 'score': 4.64}, {'connected_gene': 'APLF', 'score': 2.77}, {'connected_gene': 'FBXO48', 'score': 1.51}, {'connected_gene': 'BMP10', 'score': 0.44}, {'connected_gene': 'LINC01890', 'score': 0.34}]
chr2	GH02I068857	68857169	68858469	1	[{'connected_gene': 'LINC01888', 'score': 11.76}, {'connected_gene': 'PLEK', 'score': 11.23}, {'connected_gene': 'FBXO48', 'score': 10.18}, {'connected_gene': 'GKN2', 'score': 9.61}, {'connected_gene': 'APLF', 'score': 6.09}, {'connected_gene': 'BMP10', 'score': 0.39}, {'connected_gene': 'LINC01890', 'score': 0.34}]
chr2	GH02I068827	68827742	68833233	1.71	[{'connected_gene': 'LINC01888', 'score': 550.77}, {'connected_gene': 'PLEK', 'score': 25.99}, {'connected_gene': 'LINC01890', 'score': 14.85}, {'connected_gene': 'FBXO48', 'score': 7.95}, {'connected_gene': 'ARHGAP25', 'score': 5.4}, {'connected_gene': 'APLF', 'score': 4.17}, {'connected_gene': 'LOC105374790', 'score': 0.2}]
chr2	GH02I068370	68370965	68373310	0.97	[{'connected_gene': 'LOC101927723', 'score': 550.77}, {'connected_gene': 'PLEK', 'score': 7.49}, {'connected_gene': 'LOC391383', 'score': 0.18}, {'connected_gene': 'GC02P067636', 'score': 0.03}]
chr2	GH02I068436	68436401	68437000	0.85	[{'connected_gene': 'LOC101927723', 'score': 12.6}, {'connected_gene': 'PLEK', 'score': 12.59}, {'connected_gene': 'CNRIP1', 'score': 11.0}, {'connected_gene': 'LOC391383', 'score': 0.39}, {'connected_gene': 'GC02P067636', 'score': 0.03}]
chr2	GH02I068440	68440057	68442438	1.58	[{'connected_gene': 'LOC101927723', 'score': 13.14}, {'connected_gene': 'PLEK', 'score': 13.13}, {'connected_gene': 'PROKR1', 'score': 2.33}, {'connected_gene': 'APLF', 'score': 2.16}, {'connected_gene': 'C1D', 'score': 1.39}, {'connected_gene': 'LOC391383', 'score': 0.44}, {'connected_gene': 'GC02P067636', 'score': 0.03}]
chr2	GH02I068356	68352028	68353004	0.95	[{'connected_gene': 'GC02P068341', 'score': 0.39}, {'connected_gene': 'PLEK', 'score': 0.39}, {'connected_gene': 'GC02P067636', 'score': 0.03}]
chr2	GH02I068355	68351613	68351810	0.43	[{'connected_gene': 'GC02P068341', 'score': 0.39}, {'connected_gene': 'PLEK', 'score': 0.39}, {'connected_gene': 'GC02P067636', 'score': 0.03}]
chr2	GH02I068353	68351818	68351913	0.38	[{'connected_gene': 'GC02P068341', 'score': 0.39}, {'connected_gene': 'PLEK', 'score': 0.39}, {'connected_gene': 'GC02P067636', 'score': 0.03}]
chr2	GH02I068352	68351070	68351160	0.2	[{'connected_gene': 'GC02P068341', 'score': 0.44}, {'connected_gene': 'PLEK', 'score': 0.39}, {'connected_gene': 'GC02P067636', 'score': 0.03}]
chr2	GH02I068358	68351397	68351510	0.31	[{'connected_gene': 'GC02P068341', 'score': 0.44}, {'connected_gene': 'PLEK', 'score': 0.39}, {'connected_gene': 'GC02P067636', 'score': 0.03}]