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
ENST00000225873	[[33901813, 33903200], [33904056, 33904610], [33904914, 33905648]]	[[33902800, 33903200], [33904056, 33904610], [33904914, 33905040]]
ENST00000586663	[[33902804, 33903200], [33904056, 33904610], [33904914, 33905571]]	[[33902804, 33903200], [33904056, 33904610], [33904914, 33905040]]
ENST00000585380	[[33904073, 33904610], [33904914, 33905096], [33905704, 33905882]]	[[33904073, 33904610], [33904914, 33905040]]
NM_000286	[[33901813, 33903200], [33904056, 33904610], [33904914, 33905656]]	[[33902800, 33903200], [33904056, 33904610], [33904914, 33905040]]

Promoter

Chrom	Start	End	Description
chr17	33905521	33905614	CAGE_peak_1_at_PEX12_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr17	GH17I035605	35605525	35606535	0.31	[{'connected_gene': 'PEX12', 'score': 10.87}, {'connected_gene': 'C17orf50', 'score': 10.4}, {'connected_gene': 'AP2B1', 'score': 10.0}, {'connected_gene': 'LOC100420062', 'score': 0.44}, {'connected_gene': 'GC17M035631', 'score': 0.31}]
chr17	GH17I035543	35543122	35543271	0.51	[{'connected_gene': 'PEX12', 'score': 10.95}, {'connected_gene': 'ENSG00000267035', 'score': 0.77}, {'connected_gene': 'ENSG00000267359', 'score': 0.39}]
chr17	GH17I035576	35576545	35579705	2.07	[{'connected_gene': 'AP2B1', 'score': 569.76}, {'connected_gene': 'PEX12', 'score': 550.77}, {'connected_gene': 'ZNF830', 'score': 31.33}, {'connected_gene': 'LIG3', 'score': 18.48}, {'connected_gene': 'LOC100420062', 'score': 6.29}, {'connected_gene': 'GAS2L2', 'score': 5.31}]
chr17	GH17I035586	35586512	35591945	2.33	[{'connected_gene': 'AP2B1', 'score': 577.97}, {'connected_gene': 'PEX12', 'score': 12.4}, {'connected_gene': 'LIG3', 'score': 11.39}, {'connected_gene': 'LINC02001', 'score': 10.77}, {'connected_gene': 'RASL10B', 'score': 10.3}, {'connected_gene': 'C17orf50', 'score': 9.93}, {'connected_gene': 'SLFN12L', 'score': 9.8}, {'connected_gene': 'LOC100420062', 'score': 5.68}, {'connected_gene': 'GAS2L2', 'score': 5.41}, {'connected_gene': 'GC17M035597', 'score': 0.44}]
chr17	GH17I035613	35613062	35613191	0.56	[{'connected_gene': 'C17orf50', 'score': 11.18}, {'connected_gene': 'TAF15', 'score': 10.71}, {'connected_gene': 'RASL10B', 'score': 10.65}, {'connected_gene': 'PEX12', 'score': 10.6}, {'connected_gene': 'MMP28', 'score': 10.18}, {'connected_gene': 'LOC100420062', 'score': 0.37}, {'connected_gene': 'GC17M035631', 'score': 0.34}, {'connected_gene': 'AP2B1', 'score': 0.28}]
chr17	GH17I035763	35763762	35767323	1.26	[{'connected_gene': 'LIG3', 'score': 135.81}, {'connected_gene': 'ZNF830', 'score': 119.6}, {'connected_gene': 'LINC02001', 'score': 30.04}, {'connected_gene': 'PEX12', 'score': 21.16}, {'connected_gene': 'AP2B1', 'score': 19.59}, {'connected_gene': 'C17orf50', 'score': 19.01}, {'connected_gene': 'GAS2L2', 'score': 11.76}, {'connected_gene': 'CCT6B', 'score': 10.45}, {'connected_gene': 'RAD51D', 'score': 9.96}, {'connected_gene': 'GC17P035762', 'score': 0.77}, {'connected_gene': 'MMP28', 'score': 0.29}, {'connected_gene': 'TAF15', 'score': 0.23}]
chr17	GH17I034979	34979258	34982709	2.11	[{'connected_gene': 'LIG3', 'score': 657.27}, {'connected_gene': 'CCT6B', 'score': 561.19}, {'connected_gene': 'GC17P034979', 'score': 550.77}, {'connected_gene': 'ZNF830', 'score': 31.37}, {'connected_gene': 'PEX12', 'score': 20.17}, {'connected_gene': 'LINC02001', 'score': 13.16}, {'connected_gene': 'TLK2P1', 'score': 10.35}]
chr17	GH17I036135	36135513	36137112	0.54	[{'connected_gene': 'LINC02001', 'score': 18.45}, {'connected_gene': 'PEX12', 'score': 10.25}, {'connected_gene': 'GC17P036146', 'score': 0.44}, {'connected_gene': 'LOC101927369', 'score': 0.39}, {'connected_gene': 'LOC100419980', 'score': 0.37}, {'connected_gene': 'ENSG00000276241', 'score': 0.34}]
chr17	GH17I035567	35567033	35569911	1.59	[{'connected_gene': 'LINC02001', 'score': 588.71}, {'connected_gene': 'LIG3', 'score': 169.86}, {'connected_gene': 'ZNF830', 'score': 142.95}, {'connected_gene': 'PEX12', 'score': 39.22}, {'connected_gene': 'AP2B1', 'score': 36.41}, {'connected_gene': 'RAD51D', 'score': 18.22}, {'connected_gene': 'LOC100420062', 'score': 5.56}, {'connected_gene': 'GAS2L2', 'score': 4.92}, {'connected_gene': 'GC17P035574', 'score': 0.44}, {'connected_gene': 'GC17P035575', 'score': 0.44}]
chr17	GH17I035533	35533194	35542151	2.13	[{'connected_gene': 'SLFN12L', 'score': 565.18}, {'connected_gene': 'AP2B1', 'score': 15.59}, {'connected_gene': 'CCL5', 'score': 13.23}, {'connected_gene': 'ZNF830', 'score': 12.83}, {'connected_gene': 'PEX12', 'score': 12.06}, {'connected_gene': 'LIG3', 'score': 11.68}, {'connected_gene': 'SLFN5', 'score': 7.32}, {'connected_gene': 'TAF5LP1', 'score': 6.78}, {'connected_gene': 'GAS2L2', 'score': 5.5}, {'connected_gene': 'SLFN11', 'score': 5.33}, {'connected_gene': 'CCL14', 'score': 4.84}, {'connected_gene': 'RFFL', 'score': 4.25}, {'connected_gene': 'CCL23', 'score': 1.28}, {'connected_gene': 'ENSG00000267035', 'score': 0.77}, {'connected_gene': 'GC17P035523', 'score': 0.39}]
chr17	GH17I035596	35596642	35596771	0.46	[{'connected_gene': 'LOC100420062', 'score': 550.77}, {'connected_gene': 'GC17M035597', 'score': 550.77}, {'connected_gene': 'RASL10B', 'score': 10.2}, {'connected_gene': 'MMP28', 'score': 9.98}, {'connected_gene': 'SLFN12L', 'score': 9.71}, {'connected_gene': 'AP2B1', 'score': 0.37}, {'connected_gene': 'PEX12', 'score': 0.37}]
chr17	GH17I034613	34613262	34613686	1.33	[{'connected_gene': 'ENSG00000278860', 'score': 550.77}, {'connected_gene': 'ZNF830', 'score': 29.09}, {'connected_gene': 'LINC02001', 'score': 27.42}, {'connected_gene': 'PEX12', 'score': 19.6}, {'connected_gene': 'LIG3', 'score': 19.2}, {'connected_gene': 'AP2B1', 'score': 18.92}, {'connected_gene': 'RAD51D', 'score': 18.2}, {'connected_gene': 'ASIC2', 'score': 12.7}, {'connected_gene': 'TMEM132E', 'score': 1.95}, {'connected_gene': 'GC17M034595', 'score': 0.37}]