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
ENST00000338859	[[4487293, 4487393], [4495655, 4495743], [4496223, 4496466], [4497116, 4497192], [4498439, 4498622], [4500154, 4500272], [4500466, 4500618], [4510655, 4511614]]	[[4495688, 4495743], [4496223, 4496466], [4497116, 4497192], [4498439, 4498622], [4500154, 4500272], [4500466, 4500618], [4510655, 4510782]]
ENST00000389313	[[4487833, 4488299], [4495655, 4495743], [4496223, 4496466], [4497116, 4497192], [4498439, 4498622], [4500154, 4500272], [4500466, 4500618], [4510655, 4511609]]	[[4487900, 4488299], [4495655, 4495743], [4496223, 4496466], [4497116, 4497192], [4498439, 4498622], [4500154, 4500272], [4500466, 4500618], [4510655, 4510782]]
ENST00000572951	[[4495649, 4495743], [4497116, 4497192], [4498439, 4498555]]	[[4495688, 4495743], [4497116, 4497192], [4498439, 4498555]]
ENST00000570526	[[4498360, 4498622], [4500154, 4500249]]	None
NM_198501	[[4487275, 4487393], [4495655, 4495743], [4496223, 4496466], [4497116, 4497192], [4498439, 4498622], [4500154, 4500272], [4500466, 4500618], [4510655, 4511614]]	[[4495688, 4495743], [4496223, 4496466], [4497116, 4497192], [4498439, 4498622], [4500154, 4500272], [4500466, 4500618], [4510655, 4510782]]
NM_001114974	[[4487833, 4488299], [4495655, 4495743], [4496223, 4496466], [4497116, 4497192], [4498439, 4498622], [4500154, 4500272], [4500466, 4500618], [4510655, 4511614]]	[[4487900, 4488299], [4495655, 4495743], [4496223, 4496466], [4497116, 4497192], [4498439, 4498622], [4500154, 4500272], [4500466, 4500618], [4510655, 4510782]]

Promoter

Chrom	Start	End	Description
chr17	4487295	4487307	CAGE_peak_2_at_SMTNL2_5end
chr17	4487816	4487830	CAGE_peak_1_at_SMTNL2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr17	GH17I003913	3913401	3919199	2.16	[{'connected_gene': 'P2RX1', 'score': 614.97}, {'connected_gene': 'ATP2A3', 'score': 7.23}, {'connected_gene': 'P2RX5', 'score': 6.88}, {'connected_gene': 'SMTNL2', 'score': 5.6}, {'connected_gene': 'ZZEF1', 'score': 3.57}, {'connected_gene': 'UBE2G1', 'score': 2.69}, {'connected_gene': 'GC17M003905', 'score': 0.77}]
chr17	GH17I004602	4602654	4611702	1.19	[{'connected_gene': 'LINC01996', 'score': 5.67}, {'connected_gene': 'ENSG00000262165', 'score': 5.37}, {'connected_gene': 'SMTNL2', 'score': 0.34}]
chr17	GH17I004583	4583432	4589752	2.07	[{'connected_gene': 'SMTNL2', 'score': 567.91}, {'connected_gene': 'GGT6', 'score': 19.65}, {'connected_gene': 'RNU6-955P', 'score': 12.79}, {'connected_gene': 'ALOX15', 'score': 12.45}, {'connected_gene': 'SHPK', 'score': 11.62}, {'connected_gene': 'DERL2', 'score': 10.37}, {'connected_gene': 'VMO1', 'score': 5.21}, {'connected_gene': 'LINC01996', 'score': 0.34}]
chr17	GH17I004590	4590110	4594365	0.69	[{'connected_gene': 'SMTNL2', 'score': 15.42}, {'connected_gene': 'RNU6-955P', 'score': 12.81}, {'connected_gene': 'ALOX15', 'score': 12.46}, {'connected_gene': 'GGT6', 'score': 11.18}, {'connected_gene': 'LINC01996', 'score': 0.37}]
chr17	GH17I004597	4597603	4601787	1.18	[{'connected_gene': 'GGT6', 'score': 6.77}, {'connected_gene': 'SMTNL2', 'score': 5.86}, {'connected_gene': 'LINC01996', 'score': 5.22}, {'connected_gene': 'ENSG00000262165', 'score': 4.55}]
chr17	GH17I004908	4908030	4910589	1.43	[{'connected_gene': 'CHRNE', 'score': 34.5}, {'connected_gene': 'LOC101927979', 'score': 23.97}, {'connected_gene': 'ZNF232', 'score': 23.48}, {'connected_gene': 'ENSG00000263220', 'score': 20.29}, {'connected_gene': 'ZNF594', 'score': 16.1}, {'connected_gene': 'RPAIN', 'score': 15.56}, {'connected_gene': 'LOC100130950', 'score': 15.16}, {'connected_gene': 'ENO3', 'score': 14.51}, {'connected_gene': 'DHX33', 'score': 13.14}, {'connected_gene': 'MIS12', 'score': 12.29}, {'connected_gene': 'ENSG00000235085', 'score': 11.69}, {'connected_gene': 'ANKFY1', 'score': 11.09}, {'connected_gene': 'PELP1', 'score': 10.86}, {'connected_gene': 'ZZEF1', 'score': 10.62}, {'connected_gene': 'ENSG00000263272', 'score': 10.11}, {'connected_gene': 'ZFP3', 'score': 8.24}, {'connected_gene': 'C17orf107', 'score': 7.49}, {'connected_gene': 'ENSG00000262165', 'score': 6.96}, {'connected_gene': 'CAMTA2', 'score': 6.1}, {'connected_gene': 'KIF1C', 'score': 2.0}, {'connected_gene': 'SMTNL2', 'score': 1.67}, {'connected_gene': 'GP1BA', 'score': 0.34}]
chr17	GH17I004594	4594373	4595791	1	[{'connected_gene': 'LOC100130950', 'score': 20.4}, {'connected_gene': 'RPAIN', 'score': 13.94}, {'connected_gene': 'ZNF594', 'score': 13.02}, {'connected_gene': 'RNU6-955P', 'score': 12.84}, {'connected_gene': 'ENSG00000263272', 'score': 12.55}, {'connected_gene': 'ALOX15', 'score': 12.47}, {'connected_gene': 'GGT6', 'score': 11.18}, {'connected_gene': 'ZNF232', 'score': 10.63}, {'connected_gene': 'PELP1', 'score': 10.33}, {'connected_gene': 'ENSG00000263164', 'score': 10.02}, {'connected_gene': 'SMTNL2', 'score': 6.61}, {'connected_gene': 'LINC01996', 'score': 0.37}]
chr17	GH17I004575	4575469	4577881	0.95	[{'connected_gene': 'GC17M004575', 'score': 550.77}, {'connected_gene': 'RNU6-955P', 'score': 12.32}, {'connected_gene': 'ALOX15', 'score': 12.25}, {'connected_gene': 'GGT6', 'score': 9.22}, {'connected_gene': 'SMTNL2', 'score': 6.67}, {'connected_gene': 'LOC101928000', 'score': 4.38}]
chr17	GH17I004301	4301853	4302458	0.47	[{'connected_gene': 'GC17P004302', 'score': 550.77}, {'connected_gene': 'MFSD1P1', 'score': 550.77}, {'connected_gene': 'ANKFY1', 'score': 11.71}, {'connected_gene': 'CYB5D2', 'score': 7.62}, {'connected_gene': 'ZZEF1', 'score': 4.59}, {'connected_gene': 'ATP2A3', 'score': 2.93}, {'connected_gene': 'ARRB2', 'score': 2.15}, {'connected_gene': 'ZMYND15', 'score': 1.97}, {'connected_gene': 'UBE2G1', 'score': 1.76}, {'connected_gene': 'SMTNL2', 'score': 1.27}, {'connected_gene': 'P2RX1', 'score': 1.27}, {'connected_gene': 'GC17P004330', 'score': 0.31}]