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
ENST00000221573	[[7985200, 7985434], [7986307, 7986427], [7986589, 7986658], [7986919, 7987232], [7987329, 7988135]]	[[7985251, 7985434], [7986307, 7986427], [7986589, 7986658], [7986919, 7987232], [7987329, 7987649]]
ENST00000595637	[[7985271, 7985434], [7986307, 7986427], [7986589, 7986658], [7986919, 7987542]]	[[7985271, 7985434], [7986307, 7986427], [7986589, 7986658], [7986919, 7987405]]
ENST00000593598	[[7985721, 7985749], [7986307, 7986427], [7986589, 7986631]]	None
ENST00000595035	[[7985897, 7986125], [7986307, 7986427], [7986589, 7986658], [7986919, 7987078]]	None
ENST00000597584	[[7985899, 7986004], [7986307, 7986427], [7986589, 7986658], [7986919, 7987232], [7987329, 7988135]]	[[7987355, 7987649]]
ENST00000596520	[[7986202, 7986427], [7986589, 7986658], [7986919, 7987082]]	None
NM_003083	[[7985193, 7985434], [7986307, 7986427], [7986589, 7986658], [7986919, 7987232], [7987329, 7988136]]	[[7985251, 7985434], [7986307, 7986427], [7986589, 7986658], [7986919, 7987232], [7987329, 7987649]]
NR_030717	[[7985866, 7986004], [7986307, 7986427], [7986589, 7986658], [7986919, 7987232], [7987329, 7988136]]	None

Promoter

Chrom	Start	End	Description
chr19	7985198	7985257	CAGE_peak_1_at_SNAPC2_5end
chr19	7985880	7985929	CAGE_peak_2_at_SNAPC2_5end
chr19	7985939	7985954	CAGE_peak_4_at_SNAPC2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I007521	7521845	7523869	2.57	[{'connected_gene': 'MCOLN1', 'score': 553.45}, {'connected_gene': 'GC19M007510', 'score': 550.77}, {'connected_gene': 'HNRNPM', 'score': 80.55}, {'connected_gene': 'ELAVL1', 'score': 73.1}, {'connected_gene': 'XAB2', 'score': 51.63}, {'connected_gene': 'ZNF557', 'score': 34.69}, {'connected_gene': 'MAP2K7', 'score': 28.57}, {'connected_gene': 'ZNF414', 'score': 19.85}, {'connected_gene': 'TIMM44', 'score': 11.63}, {'connected_gene': 'SNAPC2', 'score': 11.12}, {'connected_gene': 'GPR108', 'score': 10.31}, {'connected_gene': 'CD209', 'score': 10.17}, {'connected_gene': 'EVI5L', 'score': 10.08}, {'connected_gene': 'PEX11G', 'score': 7.01}, {'connected_gene': 'LOC105372261', 'score': 0.77}]
chr19	GH19I008032	8032207	8037883	1.19	[{'connected_gene': 'HNRNPM', 'score': 28.68}, {'connected_gene': 'ZNF558', 'score': 24.69}, {'connected_gene': 'XAB2', 'score': 23.43}, {'connected_gene': 'ZNF557', 'score': 22.55}, {'connected_gene': 'ELAVL1', 'score': 21.03}, {'connected_gene': 'MAP2K7', 'score': 11.61}, {'connected_gene': 'TIMM44', 'score': 11.09}, {'connected_gene': 'ZNF414', 'score': 10.74}, {'connected_gene': 'ENSG00000269139', 'score': 9.09}, {'connected_gene': 'CCL25', 'score': 8.56}, {'connected_gene': 'LOC105372266', 'score': 6.42}, {'connected_gene': 'SNAPC2', 'score': 5.31}]
chr19	GH19I007673	7673878	7675104	1.13	[{'connected_gene': 'MCEMP1', 'score': 17.79}, {'connected_gene': 'XAB2', 'score': 15.89}, {'connected_gene': 'HNRNPM', 'score': 12.85}, {'connected_gene': 'ZNF414', 'score': 12.74}, {'connected_gene': 'ZNF557', 'score': 11.17}, {'connected_gene': 'ELAVL1', 'score': 10.6}, {'connected_gene': 'SNAPC2', 'score': 9.85}, {'connected_gene': 'MCOLN1', 'score': 9.76}, {'connected_gene': 'STXBP2', 'score': 7.72}, {'connected_gene': 'PEX11G', 'score': 7.05}, {'connected_gene': 'PNPLA6', 'score': 2.16}, {'connected_gene': 'RETN', 'score': 0.44}]
chr19	GH19I008552	8552857	8553026	0.84	[{'connected_gene': 'ZNF266', 'score': 16.56}, {'connected_gene': 'XAB2', 'score': 15.66}, {'connected_gene': 'ZNF414', 'score': 12.99}, {'connected_gene': 'HNRNPM', 'score': 12.97}, {'connected_gene': 'ZNF317', 'score': 11.98}, {'connected_gene': 'ZNF559', 'score': 11.84}, {'connected_gene': 'ZNF177', 'score': 11.09}, {'connected_gene': 'ZNF699', 'score': 11.01}, {'connected_gene': 'ELAVL1', 'score': 10.58}, {'connected_gene': 'SNAPC2', 'score': 9.81}, {'connected_gene': 'ENSG00000268618', 'score': 0.77}, {'connected_gene': 'PIR49089', 'score': 0.44}, {'connected_gene': 'MYO1F', 'score': 0.34}]
chr19	GH19I007915	7915778	7922365	2.06	[{'connected_gene': 'TGFBR3L', 'score': 550.77}, {'connected_gene': 'ENSG00000260500', 'score': 550.77}, {'connected_gene': 'SNAPC2', 'score': 550.77}, {'connected_gene': 'HNRNPM', 'score': 34.28}, {'connected_gene': 'XAB2', 'score': 26.89}, {'connected_gene': 'ZNF558', 'score': 25.65}, {'connected_gene': 'ELAVL1', 'score': 23.72}, {'connected_gene': 'ZNF557', 'score': 21.07}, {'connected_gene': 'MAP2K7', 'score': 20.99}, {'connected_gene': 'CD209', 'score': 10.19}, {'connected_gene': 'LRRC8E', 'score': 6.87}]