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
NM_173545	[[68694690, 68694959], [68717321, 68717393], [68729862, 68730035], [68740211, 68740359], [68740679, 68740812], [68753192, 68753374], [68765003, 68765359], [68772318, 68772444], [68794472, 68794519], [68804951, 68807294]]	[[68694863, 68694959], [68717321, 68717393], [68729862, 68730035], [68740211, 68740359], [68740679, 68740812], [68753192, 68753374], [68765003, 68765359], [68772318, 68772444], [68794472, 68794519], [68804951, 68805154]]

Promoter

Chrom	Start	End	Description
chr2	68694678	68694734	CAGE_peak_1_at_APLF_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	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	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	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	GH02I069022	69022202	69023269	0.82	[{'connected_gene': 'APLF', 'score': 10.22}, {'connected_gene': 'GKN1', 'score': 10.04}, {'connected_gene': 'GKN2', 'score': 9.82}, {'connected_gene': 'GFPT1', 'score': 9.36}, {'connected_gene': 'ANTXR1', 'score': 0.44}, {'connected_gene': 'MIR3126', 'score': 0.18}]
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	GH02I067916	67916392	67919282	0.76	[{'connected_gene': 'APLF', 'score': 6.48}, {'connected_gene': 'LINC01812', 'score': 0.16}, {'connected_gene': 'LOC402076', 'score': 0.14}, {'connected_gene': 'GC02P067636', 'score': 0.06}]
chr2	GH02I067914	67914204	67914606	0.4	[{'connected_gene': 'APLF', 'score': 6.05}, {'connected_gene': 'LINC01812', 'score': 0.17}, {'connected_gene': 'LOC402076', 'score': 0.14}, {'connected_gene': 'GC02P067636', 'score': 0.06}]
chr2	GH02I067898	67898406	67899455	0.43	[{'connected_gene': 'APLF', 'score': 5.66}, {'connected_gene': 'LINC01812', 'score': 0.19}, {'connected_gene': 'LOC402076', 'score': 0.13}, {'connected_gene': 'GC02P067636', 'score': 0.07}]
chr2	GH02I068653	68653401	68654200	0.98	[{'connected_gene': 'PROKR1', 'score': 0.39}, {'connected_gene': 'ARHGAP25', 'score': 0.31}, {'connected_gene': 'APLF', 'score': 0.09}]
chr2	GH02I068642	68642841	68644152	0.77	[{'connected_gene': 'PROKR1', 'score': 550.77}, {'connected_gene': 'LOC100379290', 'score': 0.37}, {'connected_gene': 'APLF', 'score': 0.1}]
chr2	GH02I068688	68688915	68691419	1.22	[{'connected_gene': 'LINC01888', 'score': 9.86}, {'connected_gene': 'ARHGAP25', 'score': 2.83}, {'connected_gene': 'PPP3R1', 'score': 2.22}, {'connected_gene': 'PROKR1', 'score': 1.7}, {'connected_gene': 'APLF', 'score': 1.16}, {'connected_gene': 'LOC105374790', 'score': 0.19}]
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}]
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	GH02I068537	68537751	68538293	0.2	[{'connected_gene': 'LOC100420887', 'score': 0.44}, {'connected_gene': 'APLF', 'score': 0.19}, {'connected_gene': 'LOC100379290', 'score': 0.17}, {'connected_gene': 'GC02P067636', 'score': 0.02}]
chr2	GH02I068565	68565889	68566118	0.79	[{'connected_gene': 'LOC100420887', 'score': 0.28}, {'connected_gene': 'LOC100379290', 'score': 0.21}, {'connected_gene': 'APLF', 'score': 0.15}]
chr2	GH02I068595	68595001	68595565	0.99	[{'connected_gene': 'LOC100379290', 'score': 0.29}, {'connected_gene': 'LOC100420887', 'score': 0.2}, {'connected_gene': 'APLF', 'score': 0.13}]