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
ENST00000393504	[[98962617, 98962997], [98986401, 98986539], [98994149, 98994263], [98996637, 98996817], [98999850, 98999904], [99006120, 99006237], [99008326, 99008433], [99012306, 99015057]]	[[98986438, 98986539], [98994149, 98994263], [98996637, 98996817], [98999850, 98999904], [99006120, 99006237], [99008326, 99008433], [99012306, 99013718]]
ENST00000436404	[[98962650, 98962997], [98986401, 98986539], [98994149, 98994263], [98996637, 98996817], [99006120, 99006237], [99008326, 99008433], [99012306, 99013807]]	[[98986438, 98986539], [98994149, 98994263], [98996637, 98996817], [99006120, 99006237], [99008326, 99008433], [99012306, 99013718]]
ENST00000272602	[[98986399, 98986539], [98994149, 98994263], [98996637, 98996817], [98999850, 98999904], [99006120, 99006237], [99008326, 99008433], [99012306, 99015064]]	[[98986438, 98986539], [98994149, 98994263], [98996637, 98996817], [98999850, 98999904], [99006120, 99006237], [99008326, 99008433], [99012306, 99013718]]
ENST00000409937	[[98993750, 98993839], [98994149, 98994263], [98994520, 98994685], [98996637, 98996817], [98999850, 98999904], [99006120, 99006237], [99008326, 99008433], [99012306, 99014095]]	[[98994201, 98994263], [98994520, 98994685], [98996637, 98996817], [98999850, 98999904], [99006120, 99006237], [99008326, 99008433], [99012306, 99013718]]
ENST00000393503	[[98996363, 98996817], [99006120, 99006235]]	None
NM_001079878	[[98962617, 98962997], [98986401, 98986539], [98994149, 98994263], [98996637, 98996817], [99006120, 99006237], [99008326, 99008433], [99012306, 99015064]]	[[98986438, 98986539], [98994149, 98994263], [98996637, 98996817], [99006120, 99006237], [99008326, 99008433], [99012306, 99013718]]
NM_001298	[[98962617, 98962997], [98986401, 98986539], [98994149, 98994263], [98996637, 98996817], [98999850, 98999904], [99006120, 99006237], [99008326, 99008433], [99012306, 99015064]]	[[98986438, 98986539], [98994149, 98994263], [98996637, 98996817], [98999850, 98999904], [99006120, 99006237], [99008326, 99008433], [99012306, 99013718]]

Promoter

Chrom	Start	End	Description
chr2	98962912	98962924	CAGE_peak_2_at_CNGA3_5end
chr2	98962946	98962963	CAGE_peak_1_at_CNGA3_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr2	GH02I098556	98556099	98557387	0.9	[{'connected_gene': 'INPP4A', 'score': 19.92}, {'connected_gene': 'COA5', 'score': 11.64}, {'connected_gene': 'UNC50', 'score': 11.64}, {'connected_gene': 'ENSG00000227987', 'score': 9.79}, {'connected_gene': 'CNGA3', 'score': 9.79}, {'connected_gene': 'PIR35284', 'score': 0.26}]
chr2	GH02I098501	98501439	98509999	1.66	[{'connected_gene': 'INPP4A', 'score': 26.31}, {'connected_gene': 'MITD1', 'score': 18.01}, {'connected_gene': 'TMEM131', 'score': 14.76}, {'connected_gene': 'ENSG00000273306', 'score': 13.82}, {'connected_gene': 'REV1', 'score': 11.95}, {'connected_gene': 'UNC50', 'score': 10.97}, {'connected_gene': 'LOC550644', 'score': 9.99}, {'connected_gene': 'ENSG00000227987', 'score': 9.94}, {'connected_gene': 'CNGA3', 'score': 9.94}, {'connected_gene': 'MGAT4A', 'score': 9.49}, {'connected_gene': 'LYG1', 'score': 4.19}, {'connected_gene': 'PIR35284', 'score': 0.44}, {'connected_gene': 'PIR47012', 'score': 0.37}]
chr2	GH02I098333	98333553	98335475	0.95	[{'connected_gene': 'VWA3B', 'score': 10.11}, {'connected_gene': 'LOC105373502', 'score': 6.79}, {'connected_gene': 'C2orf92', 'score': 4.02}, {'connected_gene': 'CNGA3', 'score': 0.39}, {'connected_gene': 'GC02P098257', 'score': 0.18}]
chr2	GH02I098346	98346211	98346270	0.68	[{'connected_gene': 'CNGA3', 'score': 550.77}, {'connected_gene': 'ENSG00000227987', 'score': 550.77}, {'connected_gene': 'LOC105373502', 'score': 0.44}]
chr2	GH02I098171	98171313	98173051	0.52	[{'connected_gene': 'LOC105373502', 'score': 10.27}, {'connected_gene': 'CNGA3', 'score': 6.69}, {'connected_gene': 'ATP5F1BP1', 'score': 0.29}, {'connected_gene': 'VWA3B', 'score': 0.17}]
chr2	GH02I098279	98279957	98281146	0.56	[{'connected_gene': 'LOC105373502', 'score': 20.81}, {'connected_gene': 'CNGA3', 'score': 10.78}, {'connected_gene': 'ENSG00000227987', 'score': 10.78}, {'connected_gene': 'VWA3B', 'score': 10.15}, {'connected_gene': 'C2orf92', 'score': 4.06}, {'connected_gene': 'GC02P098257', 'score': 0.34}]
chr2	GH02I098270	98270018	98270167	0.2	[{'connected_gene': 'LOC105373502', 'score': 10.67}, {'connected_gene': 'GC02P098257', 'score': 0.39}, {'connected_gene': 'CNGA3', 'score': 0.18}, {'connected_gene': 'VWA3B', 'score': 0.09}]
chr2	GH02I098671	98671004	98671014	0.42	[{'connected_gene': 'RNU7-46P', 'score': 11.54}, {'connected_gene': 'RNU4-84P', 'score': 10.36}, {'connected_gene': 'KIAA1211L', 'score': 9.78}, {'connected_gene': 'CNGA3', 'score': 5.69}, {'connected_gene': 'YWHAQP5', 'score': 0.34}, {'connected_gene': 'PIR38295', 'score': 0.25}, {'connected_gene': 'MGAT4A', 'score': 0.21}]