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
ENST00000359866	[[17420339, 17420466], [17424831, 17424912], [17425146, 17425198], [17426742, 17426804], [17430354, 17434110]]	[[17420463, 17420466], [17424831, 17424912], [17425146, 17425198], [17426742, 17426804], [17430354, 17430465]]
ENST00000593466	[[17420326, 17420466], [17424831, 17424912], [17425146, 17425198], [17426742, 17426804], [17430354, 17430534], [17431059, 17431301]]	[[17420463, 17420466], [17424831, 17424912], [17425146, 17425198], [17426742, 17426804], [17430354, 17430465]]
ENST00000596582	[[17420377, 17420466], [17424831, 17424912], [17425146, 17425198], [17426742, 17426804], [17430354, 17430534], [17431138, 17431176]]	[[17420463, 17420466], [17424831, 17424912], [17425146, 17425198], [17426742, 17426804], [17430354, 17430465]]
ENST00000596925	[[17420382, 17420466], [17424831, 17424912], [17425146, 17425541]]	None
ENST00000594501	[[17426580, 17426804], [17430354, 17430528]]	None
NM_024050	[[17420336, 17420466], [17424831, 17424912], [17425146, 17425198], [17426742, 17426804], [17430354, 17434107]]	[[17420463, 17420466], [17424831, 17424912], [17425146, 17425198], [17426742, 17426804], [17430354, 17430465]]

Promoter

Chrom	Start	End	Description
chr19	17420340	17420383	CAGE_peak_1_at_DDA1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I017333	17333041	17335481	2.31	[{'connected_gene': 'GTPBP3', 'score': 582.64}, {'connected_gene': 'ANO8', 'score': 550.77}, {'connected_gene': 'CHERP', 'score': 52.22}, {'connected_gene': 'IQCN', 'score': 33.64}, {'connected_gene': 'C19orf44', 'score': 32.5}, {'connected_gene': 'ENSG00000267904', 'score': 32.11}, {'connected_gene': 'ENSG00000268743', 'score': 31.95}, {'connected_gene': 'ENSG00000268087', 'score': 29.86}, {'connected_gene': 'MRPL34', 'score': 28.41}, {'connected_gene': 'ENSG00000269578', 'score': 28.02}, {'connected_gene': 'MED26', 'score': 26.43}, {'connected_gene': 'MVB12A', 'score': 24.01}, {'connected_gene': 'SIN3B', 'score': 22.9}, {'connected_gene': 'ENSG00000269427', 'score': 21.15}, {'connected_gene': 'ABHD8', 'score': 13.43}, {'connected_gene': 'ANKLE1', 'score': 12.89}, {'connected_gene': 'DDA1', 'score': 12.73}, {'connected_gene': 'ENSG00000269044', 'score': 12.58}, {'connected_gene': 'COLGALT1', 'score': 12.14}, {'connected_gene': 'SMIM7', 'score': 12.02}, {'connected_gene': 'HAUS8', 'score': 11.8}, {'connected_gene': 'BST2', 'score': 11.15}, {'connected_gene': 'RPL18A', 'score': 10.61}, {'connected_gene': 'ENSG00000269481', 'score': 10.11}, {'connected_gene': 'LOC100507551', 'score': 10.03}, {'connected_gene': 'PIR41076', 'score': 0.39}]
chr19	GH19I017307	17307912	17313543	2.28	[{'connected_gene': 'ABHD8', 'score': 571.27}, {'connected_gene': 'DDA1', 'score': 550.77}, {'connected_gene': 'CHERP', 'score': 57.56}, {'connected_gene': 'MRPL34', 'score': 42.36}, {'connected_gene': 'C19orf44', 'score': 36.57}, {'connected_gene': 'ENSG00000268743', 'score': 32.03}, {'connected_gene': 'SIN3B', 'score': 25.05}, {'connected_gene': 'ENSG00000269427', 'score': 22.66}, {'connected_gene': 'ENSG00000269044', 'score': 20.91}, {'connected_gene': 'ENSG00000267904', 'score': 20.17}, {'connected_gene': 'MED26', 'score': 19.34}, {'connected_gene': 'HAUS8', 'score': 13.93}, {'connected_gene': 'IQCN', 'score': 13.22}, {'connected_gene': 'OCEL1', 'score': 13.02}, {'connected_gene': 'GTPBP3', 'score': 12.87}, {'connected_gene': 'ENSG00000269815', 'score': 11.29}, {'connected_gene': 'LOC100507551', 'score': 11.12}, {'connected_gene': 'ENSG00000269578', 'score': 11.06}, {'connected_gene': 'SMIM7', 'score': 10.66}, {'connected_gene': 'ENSG00000268087', 'score': 9.78}, {'connected_gene': 'PLVAP', 'score': 8.33}, {'connected_gene': 'PIR41076', 'score': 0.39}]
chr19	GH19I017332	17332692	17332901	0.81	[{'connected_gene': 'ABHD8', 'score': 13.43}, {'connected_gene': 'MRPL34', 'score': 13.35}, {'connected_gene': 'DDA1', 'score': 12.73}, {'connected_gene': 'MVB12A', 'score': 11.44}, {'connected_gene': 'BST2', 'score': 11.15}, {'connected_gene': 'ANO8', 'score': 0.77}, {'connected_gene': 'PIR41076', 'score': 0.39}]
chr19	GH19I017316	17316770	17318279	0.85	[{'connected_gene': 'MRPL34', 'score': 33.04}, {'connected_gene': 'ENSG00000269578', 'score': 16.28}, {'connected_gene': 'C19orf44', 'score': 15.02}, {'connected_gene': 'ABHD8', 'score': 14.67}, {'connected_gene': 'ENSG00000268743', 'score': 13.79}, {'connected_gene': 'CHERP', 'score': 13.62}, {'connected_gene': 'IQCN', 'score': 12.57}, {'connected_gene': 'SIN3B', 'score': 11.79}, {'connected_gene': 'ENSG00000268087', 'score': 10.77}, {'connected_gene': 'GTPBP3', 'score': 10.35}, {'connected_gene': 'ENSG00000267904', 'score': 10.28}, {'connected_gene': 'SMIM7', 'score': 10.22}, {'connected_gene': 'PIR41076', 'score': 0.77}, {'connected_gene': 'DDA1', 'score': 0.44}]
chr19	GH19I017302	17302025	17306988	2.1	[{'connected_gene': 'MRPL34', 'score': 592.79}, {'connected_gene': 'ABHD8', 'score': 571.25}, {'connected_gene': 'CHERP', 'score': 49.28}, {'connected_gene': 'HAUS8', 'score': 26.23}, {'connected_gene': 'C19orf44', 'score': 24.54}, {'connected_gene': 'ENSG00000268743', 'score': 21.42}, {'connected_gene': 'IQCN', 'score': 21.4}, {'connected_gene': 'MED26', 'score': 19.34}, {'connected_gene': 'ENSG00000269578', 'score': 15.85}, {'connected_gene': 'COLGALT1', 'score': 14.65}, {'connected_gene': 'ENSG00000269427', 'score': 13.65}, {'connected_gene': 'MVB12A', 'score': 11.12}, {'connected_gene': 'PLVAP', 'score': 10.74}, {'connected_gene': 'ENSG00000267904', 'score': 10.6}, {'connected_gene': 'DDA1', 'score': 0.44}, {'connected_gene': 'ENSG00000269815', 'score': 0.44}]
chr19	GH19I017321	17321549	17325425	0.77	[{'connected_gene': 'PIR41076', 'score': 550.77}, {'connected_gene': 'MRPL34', 'score': 36.52}, {'connected_gene': 'ABHD8', 'score': 14.81}, {'connected_gene': 'MVB12A', 'score': 11.42}, {'connected_gene': 'BST2', 'score': 11.13}, {'connected_gene': 'ANO8', 'score': 0.39}, {'connected_gene': 'DDA1', 'score': 0.39}]