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
ENST00000222254	[[18263927, 18264104], [18266266, 18267011], [18271280, 18271373], [18271728, 18271779], [18271863, 18271995], [18272088, 18272305], [18272775, 18272861], [18273011, 18273120], [18273217, 18273316], [18273776, 18273957], [18274072, 18274198], [18276969, 18277112], [18277939, 18278116], [18279284, 18279356], [18279535, 18279706], [18279896, 18281350]]	[[18266689, 18267011], [18271280, 18271373], [18271728, 18271779], [18271863, 18271995], [18272088, 18272305], [18272775, 18272861], [18273011, 18273120], [18273217, 18273316], [18273776, 18273957], [18274072, 18274198], [18276969, 18277112], [18277939, 18278116], [18279284, 18279356], [18279535, 18279706], [18279896, 18280104]]
ENST00000426902	[[18266431, 18267011], [18271280, 18271373], [18271728, 18271779], [18271863, 18271995], [18272088, 18272305], [18272775, 18272861], [18273011, 18273120], [18273217, 18273316], [18273776, 18273957], [18274072, 18274198], [18276920, 18277112], [18277939, 18278116], [18279284, 18279356], [18279535, 18279706], [18279896, 18280883]]	[[18266689, 18267011], [18271280, 18271373], [18271728, 18271779], [18271863, 18271995], [18272088, 18272305], [18272775, 18272861], [18273011, 18273120], [18273217, 18273316], [18273776, 18273957], [18274072, 18274198], [18276920, 18276950]]
ENST00000474310	[[18271676, 18271779], [18271863, 18271995], [18272088, 18272278]]	None
ENST00000600533	[[18272855, 18272861], [18273011, 18273120], [18273217, 18273527]]	None
ENST00000464016	[[18277085, 18277112], [18277939, 18278116], [18279284, 18279356], [18279539, 18279706], [18279896, 18280041]]	[[18277085, 18277112], [18277939, 18278116], [18279284, 18279356], [18279539, 18279636]]
ENST00000459743	[[18279307, 18279706], [18279896, 18279962]]	None
NM_005027	[[18263987, 18264104], [18266266, 18267011], [18271280, 18271373], [18271728, 18271779], [18271863, 18271995], [18272088, 18272305], [18272775, 18272861], [18273011, 18273120], [18273217, 18273316], [18273776, 18273957], [18274072, 18274198], [18276969, 18277112], [18277939, 18278116], [18279284, 18279356], [18279535, 18279706], [18279896, 18281343]]	[[18266689, 18267011], [18271280, 18271373], [18271728, 18271779], [18271863, 18271995], [18272088, 18272305], [18272775, 18272861], [18273011, 18273120], [18273217, 18273316], [18273776, 18273957], [18274072, 18274198], [18276969, 18277112], [18277939, 18278116], [18279284, 18279356], [18279535, 18279706], [18279896, 18280104]]
NR_073517	[[18263987, 18264104], [18266266, 18267011], [18271280, 18271373], [18271728, 18271779], [18271863, 18271995], [18272088, 18272305], [18272775, 18272861], [18273011, 18273120], [18273217, 18273316], [18273776, 18273957], [18274072, 18274198], [18276920, 18277112], [18277939, 18278116], [18279284, 18279356], [18279535, 18279706], [18279896, 18281343]]	None

Promoter

Chrom	Start	End	Description
chr19	18263965	18264072	CAGE_peak_1_at_PIK3R2_5end
chr19	18266371	18266392	CAGE_peak_2_at_PIK3R2_5end
chr19	18271657	18271669	CAGE_peak_4_at_PIK3R2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I018160	18160271	18162350	1.57	[{'connected_gene': 'MPV17L2', 'score': 12.54}, {'connected_gene': 'PIR53058', 'score': 0.44}, {'connected_gene': 'PIK3R2', 'score': 0.44}, {'connected_gene': 'ENSG00000268173', 'score': 0.44}, {'connected_gene': 'IFI30', 'score': 0.39}]
chr19	GH19I018150	18150673	18154911	2.28	[{'connected_gene': 'PIK3R2', 'score': 550.77}, {'connected_gene': 'ENSG00000268173', 'score': 550.77}, {'connected_gene': 'ENSG00000269145', 'score': 550.77}, {'connected_gene': 'PDE4C', 'score': 21.71}, {'connected_gene': 'ENSG00000268030', 'score': 21.19}, {'connected_gene': 'UPF1', 'score': 19.99}, {'connected_gene': 'ENSG00000268938', 'score': 17.68}, {'connected_gene': 'COLGALT1', 'score': 15.47}, {'connected_gene': 'ENSG00000269191', 'score': 15.1}, {'connected_gene': 'GTPBP3', 'score': 12.55}, {'connected_gene': 'MPV17L2', 'score': 11.83}, {'connected_gene': 'PLVAP', 'score': 11.57}, {'connected_gene': 'IQCN', 'score': 11.38}, {'connected_gene': 'MVB12A', 'score': 11.09}, {'connected_gene': 'ELL', 'score': 10.29}, {'connected_gene': 'IFI30', 'score': 5.5}, {'connected_gene': 'MAST3', 'score': 0.22}]
chr19	GH19I018168	18168220	18175625	2.06	[{'connected_gene': 'IFI30', 'score': 565.41}, {'connected_gene': 'MPV17L2', 'score': 19.61}, {'connected_gene': 'LRRC25', 'score': 15.64}, {'connected_gene': 'ENSG00000268938', 'score': 14.47}, {'connected_gene': 'MEF2B', 'score': 13.41}, {'connected_gene': 'MVB12A', 'score': 12.53}, {'connected_gene': 'ENSG00000268030', 'score': 12.38}, {'connected_gene': 'PGLS', 'score': 11.89}, {'connected_gene': 'UPF1', 'score': 10.74}, {'connected_gene': 'ENSG00000269191', 'score': 10.63}, {'connected_gene': 'COLGALT1', 'score': 10.62}, {'connected_gene': 'KXD1', 'score': 10.59}, {'connected_gene': 'SUGP2', 'score': 9.94}, {'connected_gene': 'PDE4C', 'score': 8.69}, {'connected_gene': 'KLHL26', 'score': 5.03}, {'connected_gene': 'ARRDC2', 'score': 4.02}, {'connected_gene': 'IL12RB1', 'score': 2.3}, {'connected_gene': 'PIK3R2', 'score': 0.37}, {'connected_gene': 'PIR53058', 'score': 0.37}, {'connected_gene': 'ENSG00000268173', 'score': 0.37}]
chr19	GH19I018155	18155351	18158800	1.4	[{'connected_gene': 'PIR53058', 'score': 550.77}, {'connected_gene': 'IFI30', 'score': 5.23}, {'connected_gene': 'PIK3R2', 'score': 0.77}, {'connected_gene': 'ENSG00000268173', 'score': 0.77}]