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
ENST00000377957	[[68686550, 68691502], [68691971, 68692310], [68693275, 68693602], [68694342, 68694390]]	[[68691340, 68691502], [68691971, 68692277]]
NM_001024680	[[68689497, 68691502], [68691971, 68692310], [68693275, 68693602], [68694342, 68694449]]	[[68691340, 68691502], [68691971, 68692277]]
NR_133923	[[68693370, 68693605], [68694342, 68694449]]	None

Promoter

Chrom	Start	End	Description
chr2	68694341	68694353	CAGE_peak_3_at_FBXO48_5end
chr2	68694401	68694434	CAGE_peak_1_at_FBXO48_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	GH02I069195	69195201	69197897	1.4	[{'connected_gene': 'ANTXR1', 'score': 9.44}, {'connected_gene': 'FBXO48', 'score': 5.04}, {'connected_gene': 'RNU6-1216P', 'score': 0.39}, {'connected_gene': 'LOC100421347', 'score': 0.22}]
chr2	GH02I069166	69166591	69172367	1.07	[{'connected_gene': 'ANTXR1', 'score': 10.36}, {'connected_gene': 'FBXO48', 'score': 4.09}, {'connected_gene': 'RNA5SP96', 'score': 0.39}, {'connected_gene': 'GC02M069149', 'score': 0.37}]
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	GH02I068463	68463400	68463601	0.8	[{'connected_gene': 'FBXO48', 'score': 0.77}, {'connected_gene': 'LOC391383', 'score': 0.39}, {'connected_gene': 'GC02P067636', 'score': 0.03}]
chr2	GH02I068464	68464875	68468454	2.06	[{'connected_gene': 'FBXO48', 'score': 558.18}, {'connected_gene': 'APLF', 'score': 550.77}, {'connected_gene': 'LOC391383', 'score': 0.37}, {'connected_gene': 'GC02P067636', 'score': 0.03}]
chr2	GH02I068717	68717302	68718146	0.38	[{'connected_gene': 'FBXO48', 'score': 11.48}, {'connected_gene': 'APLF', 'score': 11.48}, {'connected_gene': 'LINC01888', 'score': 11.34}, {'connected_gene': 'ARHGAP25', 'score': 0.28}, {'connected_gene': 'LOC105374790', 'score': 0.25}]
chr2	GH02I068714	68714560	68716912	1.18	[{'connected_gene': 'FBXO48', 'score': 11.48}, {'connected_gene': 'APLF', 'score': 11.48}, {'connected_gene': 'LINC01888', 'score': 11.33}, {'connected_gene': 'ARHGAP25', 'score': 0.28}, {'connected_gene': 'LOC105374790', 'score': 0.25}]
chr2	GH02I068925	68925409	68925558	0.89	[{'connected_gene': 'FBXO48', 'score': 11.36}, {'connected_gene': 'APLF', 'score': 11.36}, {'connected_gene': 'LINC01888', 'score': 11.19}, {'connected_gene': 'BMP10', 'score': 10.98}, {'connected_gene': 'ANTXR1', 'score': 10.13}, {'connected_gene': 'GKN1', 'score': 9.81}, {'connected_gene': 'GKN3P', 'score': 0.77}, {'connected_gene': 'GKN2', 'score': 0.31}]
chr2	GH02I068924	68924181	68925383	0.67	[{'connected_gene': 'FBXO48', 'score': 11.36}, {'connected_gene': 'APLF', 'score': 11.36}, {'connected_gene': 'LINC01888', 'score': 11.19}, {'connected_gene': 'BMP10', 'score': 10.98}, {'connected_gene': 'ANTXR1', 'score': 10.13}, {'connected_gene': 'GKN1', 'score': 9.81}, {'connected_gene': 'GKN3P', 'score': 0.77}, {'connected_gene': 'GKN2', 'score': 0.31}]
chr2	GH02I068722	68722967	68724779	0.52	[{'connected_gene': 'FBXO48', 'score': 11.62}, {'connected_gene': 'APLF', 'score': 11.62}, {'connected_gene': 'LOC105374790', 'score': 0.28}, {'connected_gene': 'ARHGAP25', 'score': 0.26}]
chr2	GH02I068720	68720059	68722373	1.09	[{'connected_gene': 'FBXO48', 'score': 10.37}, {'connected_gene': 'APLF', 'score': 10.37}, {'connected_gene': 'LOC105374790', 'score': 0.26}, {'connected_gene': 'ARHGAP25', 'score': 0.26}]
chr2	GH02I069183	69183693	69188530	0.74	[{'connected_gene': 'FBXO48', 'score': 4.6}, {'connected_gene': 'RNU6-1216P', 'score': 0.77}, {'connected_gene': 'LOC100421347', 'score': 0.2}, {'connected_gene': 'ANTXR1', 'score': 0.09}]
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	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	GH02I068452	68452629	68452778	0.63	[{'connected_gene': 'LOC391383', 'score': 0.77}, {'connected_gene': 'FBXO48', 'score': 0.39}, {'connected_gene': 'GC02P067636', 'score': 0.03}]
chr2	GH02I068906	68906735	68909599	1.33	[{'connected_gene': 'BMP10', 'score': 11.93}, {'connected_gene': 'LINC01888', 'score': 11.8}, {'connected_gene': 'FBXO48', 'score': 11.05}, {'connected_gene': 'APLF', 'score': 11.05}, {'connected_gene': 'GKN2', 'score': 10.34}, {'connected_gene': 'GKN3P', 'score': 0.39}, {'connected_gene': 'LOC105374792', 'score': 0.31}]
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	GH02I068750	68750694	68755351	1.24	[{'connected_gene': 'LINC01888', 'score': 11.27}, {'connected_gene': 'FBXO48', 'score': 10.61}, {'connected_gene': 'APLF', 'score': 10.61}, {'connected_gene': 'ARHGAP25', 'score': 7.39}, {'connected_gene': 'LOC105374790', 'score': 0.44}]
chr2	GH02I068909	68909800	68910200	1.06	[{'connected_gene': 'LINC01888', 'score': 11.62}, {'connected_gene': 'FBXO48', 'score': 11.05}, {'connected_gene': 'APLF', 'score': 11.05}, {'connected_gene': 'GKN3P', 'score': 0.39}, {'connected_gene': 'LOC105374792', 'score': 0.31}]
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}]