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
ENST00000370626	[[99437180, 99437782], [99439375, 99439672], [99446522, 99447080]]	[[99437625, 99437782], [99439375, 99439662]]
NM_021732	[[99437180, 99437782], [99439375, 99439672], [99446522, 99447015]]	[[99437625, 99437782], [99439375, 99439662]]

Promoter

Chrom	Start	End	Description
chr10	99446903	99446914	CAGE_peak_5_at_AVPI1_5end
chr10	99446927	99446938	CAGE_peak_4_at_AVPI1_5end
chr10	99446948	99446963	CAGE_peak_3_at_AVPI1_5end
chr10	99446965	99447007	CAGE_peak_1_at_AVPI1_5end
chr10	99447024	99447035	CAGE_peak_2_at_AVPI1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr10	GH10I097726	97726260	97727573	1.25	[{'connected_gene': 'MARVELD1', 'score': 18.83}, {'connected_gene': 'AVPI1', 'score': 11.46}, {'connected_gene': 'PI4K2A', 'score': 10.29}, {'connected_gene': 'C10orf62', 'score': 10.24}, {'connected_gene': 'HOGA1', 'score': 10.23}, {'connected_gene': 'ENSG00000249967', 'score': 10.23}, {'connected_gene': 'SFRP5', 'score': 10.14}, {'connected_gene': 'GC10M097717', 'score': 0.44}, {'connected_gene': 'ZFYVE27', 'score': 0.39}]
chr10	GH10I097721	97721825	97722697	0.49	[{'connected_gene': 'AVPI1', 'score': 11.8}, {'connected_gene': 'MARVELD1', 'score': 6.73}, {'connected_gene': 'GC10M097717', 'score': 0.77}, {'connected_gene': 'ZFYVE27', 'score': 0.39}]
chr10	GH10I097681	97681943	97691293	2.62	[{'connected_gene': 'AVPI1', 'score': 550.77}, {'connected_gene': 'MORN4', 'score': 30.88}, {'connected_gene': 'MARVELD1', 'score': 20.88}, {'connected_gene': 'ZFYVE27', 'score': 18.91}, {'connected_gene': 'MMS19', 'score': 11.47}, {'connected_gene': 'RRP12', 'score': 7.45}, {'connected_gene': 'R3HCC1L', 'score': 4.42}, {'connected_gene': 'PI4K2A', 'score': 3.76}, {'connected_gene': 'PIR31130', 'score': 0.77}, {'connected_gene': 'PIR48246', 'score': 0.39}, {'connected_gene': 'GC10M097562', 'score': 0.31}]
chr10	GH10I097639	97639841	97642491	2.44	[{'connected_gene': 'PI4K2A', 'score': 556.94}, {'connected_gene': 'R3HCC1L', 'score': 28.15}, {'connected_gene': 'MORN4', 'score': 23.89}, {'connected_gene': 'ZFYVE27', 'score': 15.88}, {'connected_gene': 'HPS1', 'score': 12.68}, {'connected_gene': 'ANKRD2', 'score': 11.81}, {'connected_gene': 'AVPI1', 'score': 11.18}, {'connected_gene': 'C10orf62', 'score': 10.96}, {'connected_gene': 'ENSG00000249967', 'score': 10.95}, {'connected_gene': 'HOGA1', 'score': 10.95}, {'connected_gene': 'MMS19', 'score': 10.49}, {'connected_gene': 'UBTD1', 'score': 10.49}, {'connected_gene': 'RRP12', 'score': 3.95}, {'connected_gene': 'PIR48481', 'score': 0.29}, {'connected_gene': 'GC10M097562', 'score': 0.19}]
chr10	GH10I097638	97638325	97639219	0.43	[{'connected_gene': 'PI4K2A', 'score': 550.77}, {'connected_gene': 'MORN4', 'score': 34.45}, {'connected_gene': 'ANKRD2', 'score': 11.81}, {'connected_gene': 'AVPI1', 'score': 11.18}, {'connected_gene': 'C10orf62', 'score': 10.97}, {'connected_gene': 'ENSG00000249967', 'score': 10.96}, {'connected_gene': 'HOGA1', 'score': 10.96}, {'connected_gene': 'ZFYVE27', 'score': 10.81}, {'connected_gene': 'MMS19', 'score': 10.5}, {'connected_gene': 'UBTD1', 'score': 10.5}, {'connected_gene': 'GC10M097562', 'score': 0.18}]
chr10	GH10I097661	97661421	97670983	1.14	[{'connected_gene': 'MORN4', 'score': 29.27}, {'connected_gene': 'AVPI1', 'score': 13.26}, {'connected_gene': 'ZFYVE27', 'score': 7.66}, {'connected_gene': 'HOGA1', 'score': 5.17}, {'connected_gene': 'PIR48481', 'score': 0.44}, {'connected_gene': 'PI4K2A', 'score': 0.31}, {'connected_gene': 'GC10M097562', 'score': 0.25}, {'connected_gene': 'ENSG00000249967', 'score': 0.18}]
chr10	GH10I097717	97717609	97720380	1.26	[{'connected_gene': 'GC10M097717', 'score': 550.77}, {'connected_gene': 'MARVELD1', 'score': 20.82}, {'connected_gene': 'AVPI1', 'score': 11.8}, {'connected_gene': 'ZFYVE27', 'score': 0.37}]
chr10	GH10I097676	97676304	97677348	0.92	[{'connected_gene': 'PIR48481', 'score': 550.77}, {'connected_gene': 'PIR48246', 'score': 550.77}, {'connected_gene': 'MORN4', 'score': 24.63}, {'connected_gene': 'LCOR', 'score': 13.07}, {'connected_gene': 'MMS19', 'score': 12.98}, {'connected_gene': 'R3HCC1L', 'score': 12.84}, {'connected_gene': 'ANKRD2', 'score': 7.29}, {'connected_gene': 'AVPI1', 'score': 0.39}, {'connected_gene': 'GC10M097562', 'score': 0.28}, {'connected_gene': 'PI4K2A', 'score': 0.28}]