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
ENST00000538513	[[7491495, 7491864], [7492461, 7493056], [7493304, 7493390]]	[[7491695, 7491864], [7492461, 7492994]]
ENST00000250055	[[7491495, 7491864], [7492461, 7493488]]	[[7491695, 7491864], [7492461, 7492994]]
ENST00000570788	[[7492316, 7493409]]	[[7492457, 7492994]]
NM_006942	[[7491497, 7491864], [7492461, 7493488]]	[[7491695, 7491864], [7492461, 7492994]]

Promoter

Chrom	Start	End	Description
chr17	7492504	7492520	CAGE_peak_3_at_SOX15_5end
chr17	7492684	7492778	CAGE_peak_2_at_SOX15_5end
chr17	7492979	7492991	CAGE_peak_5_at_SOX15_5end
chr17	7493405	7493419	CAGE_peak_1_at_SOX15_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr17	GH17I007613	7613113	7616010	1.99	[{'connected_gene': 'SHBG', 'score': 550.77}, {'connected_gene': 'FXR2', 'score': 550.77}, {'connected_gene': 'TNFSF12', 'score': 18.76}, {'connected_gene': 'SNORD10', 'score': 14.27}, {'connected_gene': 'SOX15', 'score': 12.97}, {'connected_gene': 'LOC100996842', 'score': 12.95}, {'connected_gene': 'MPDU1', 'score': 12.93}, {'connected_gene': 'DVL2', 'score': 12.79}, {'connected_gene': 'ATP1B2', 'score': 12.01}, {'connected_gene': 'SNORA48', 'score': 11.94}, {'connected_gene': 'PFAS', 'score': 11.88}, {'connected_gene': 'WRAP53', 'score': 11.65}, {'connected_gene': 'TP53', 'score': 11.65}, {'connected_gene': 'CTC1', 'score': 11.27}, {'connected_gene': 'EFNB3', 'score': 10.98}, {'connected_gene': 'TNFSF12-TNFSF13', 'score': 10.83}, {'connected_gene': 'DNAH2', 'score': 10.59}, {'connected_gene': 'CNTROB', 'score': 10.31}, {'connected_gene': 'TRAPPC1', 'score': 10.31}, {'connected_gene': 'KCNAB3', 'score': 10.31}, {'connected_gene': 'PER1', 'score': 10.19}, {'connected_gene': 'ENSG00000265749', 'score': 10.0}, {'connected_gene': 'ENSG00000262089', 'score': 9.9}, {'connected_gene': 'PLSCR3', 'score': 9.87}]
chr17	GH17I007474	7474332	7486846	2.66	[{'connected_gene': 'POLR2A', 'score': 630.98}, {'connected_gene': 'ZBTB4', 'score': 565.68}, {'connected_gene': 'SLC35G6', 'score': 553.06}, {'connected_gene': 'DVL2', 'score': 125.64}, {'connected_gene': 'PFAS', 'score': 84.1}, {'connected_gene': 'SNORD10', 'score': 80.83}, {'connected_gene': 'CTC1', 'score': 69.62}, {'connected_gene': 'WRAP53', 'score': 65.83}, {'connected_gene': 'SNORA48', 'score': 65.0}, {'connected_gene': 'CNTROB', 'score': 55.88}, {'connected_gene': 'PLSCR3', 'score': 50.14}, {'connected_gene': 'KCTD11', 'score': 49.66}, {'connected_gene': 'NEURL4', 'score': 49.09}, {'connected_gene': 'CHRNB1', 'score': 47.98}, {'connected_gene': 'ENSG00000262089', 'score': 43.42}, {'connected_gene': 'ENSG00000265749', 'score': 42.99}, {'connected_gene': 'EIF4A1', 'score': 42.36}, {'connected_gene': 'KDM6B', 'score': 37.52}, {'connected_gene': 'RPL26', 'score': 33.14}, {'connected_gene': 'NLGN2', 'score': 32.71}, {'connected_gene': 'MIR324', 'score': 31.14}, {'connected_gene': 'PER1', 'score': 29.03}, {'connected_gene': 'CD68', 'score': 26.74}, {'connected_gene': 'FGF11', 'score': 25.73}, {'connected_gene': 'SENP3', 'score': 21.76}, {'connected_gene': 'TP53', 'score': 20.26}, {'connected_gene': 'ACAP1', 'score': 14.21}, {'connected_gene': 'EIF5A', 'score': 12.8}, {'connected_gene': 'TNFSF12', 'score': 12.69}, {'connected_gene': 'TMEM102', 'score': 11.75}, {'connected_gene': 'SPEM2', 'score': 11.55}, {'connected_gene': 'SPEM1', 'score': 11.54}, {'connected_gene': 'MPDU1', 'score': 10.98}, {'connected_gene': 'TMEM256', 'score': 10.98}, {'connected_gene': 'TMEM95', 'score': 10.94}, {'connected_gene': 'TNFSF12-TNFSF13', 'score': 10.74}, {'connected_gene': 'ENSG00000224647', 'score': 10.64}, {'connected_gene': 'MIR497HG', 'score': 10.56}, {'connected_gene': 'SLC25A35', 'score': 10.45}, {'connected_gene': 'HES7', 'score': 10.18}, {'connected_gene': 'SCARNA21', 'score': 10.11}, {'connected_gene': 'LOC100996842', 'score': 10.02}, {'connected_gene': 'GPS2', 'score': 10.01}, {'connected_gene': 'ALOX12-AS1', 'score': 9.81}, {'connected_gene': 'CHD3', 'score': 9.59}, {'connected_gene': 'TNK1', 'score': 6.83}, {'connected_gene': 'GABARAP', 'score': 5.15}, {'connected_gene': 'RNASEK', 'score': 4.12}, {'connected_gene': 'SAT2', 'score': 4.0}, {'connected_gene': 'SOX15', 'score': 1.65}, {'connected_gene': 'C17orf49', 'score': 1.61}, {'connected_gene': 'CLEC10A', 'score': 1.25}, {'connected_gene': 'PIR47282', 'score': 0.77}]
chr17	GH17I007586	7586460	7592159	1.72	[{'connected_gene': 'GC17M007593', 'score': 550.77}, {'connected_gene': 'SOX15', 'score': 550.77}, {'connected_gene': 'SAT2', 'score': 25.47}, {'connected_gene': 'TNFSF12', 'score': 10.04}, {'connected_gene': 'CHRNB1', 'score': 6.05}, {'connected_gene': 'ATP1B2', 'score': 5.26}, {'connected_gene': 'LOC100996842', 'score': 0.77}, {'connected_gene': 'MPDU1', 'score': 0.44}, {'connected_gene': 'FXR2', 'score': 0.31}]