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
ENST00000245816	[[6361462, 6361783], [6361879, 6361951], [6362456, 6362553], [6364462, 6364650], [6366268, 6366374], [6368548, 6368919]]	[[6361585, 6361783], [6361879, 6361951], [6362456, 6362553], [6364462, 6364650], [6366268, 6366374], [6368548, 6368721]]
ENST00000596070	[[6361575, 6361783], [6361879, 6362553], [6364462, 6364650], [6366268, 6366374], [6368548, 6368718]]	None
ENST00000594780	[[6361684, 6361783], [6361879, 6361951], [6362456, 6362553], [6364462, 6365201]]	None
ENST00000597326	[[6361757, 6361783], [6361879, 6361951], [6362456, 6362536], [6364462, 6364650], [6366268, 6366374], [6368548, 6368556]]	[[6361757, 6361783], [6361879, 6361951], [6362456, 6362536], [6364462, 6364650], [6366268, 6366374], [6368548, 6368556]]
ENST00000596149	[[6361814, 6361951], [6362456, 6362553], [6364462, 6364650], [6366268, 6366374], [6368548, 6368765]]	[[6361942, 6361951], [6362456, 6362553], [6364462, 6364650], [6366268, 6366374], [6368548, 6368721]]
ENST00000596605	[[6361873, 6361951], [6362456, 6362553], [6366268, 6366374], [6368548, 6368913]]	[[6361942, 6361951], [6362456, 6362553], [6366268, 6366333]]
NM_006012	[[6361462, 6361783], [6361879, 6361951], [6362456, 6362553], [6364462, 6364650], [6366268, 6366374], [6368548, 6368915]]	[[6361585, 6361783], [6361879, 6361951], [6362456, 6362553], [6364462, 6364650], [6366268, 6366374], [6368548, 6368721]]

Promoter

Chrom	Start	End	Description
chr19	6361440	6361466	CAGE_peak_3_at_CLPP_5end
chr19	6361517	6361640	CAGE_peak_1_at_CLPP_5end
chr19	6361644	6361677	CAGE_peak_2_at_CLPP_5end
chr19	6361754	6361765	CAGE_peak_5_at_CLPP_5end
chr19	6361773	6361784	CAGE_peak_4_at_CLPP_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I006423	6423090	6426250	2.07	[{'connected_gene': 'KHSRP', 'score': 590.87}, {'connected_gene': 'GC19M006424', 'score': 550.77}, {'connected_gene': 'ZNF557', 'score': 45.22}, {'connected_gene': 'DUS3L', 'score': 43.52}, {'connected_gene': 'ENSG00000267571', 'score': 25.14}, {'connected_gene': 'SNRPEP4', 'score': 23.71}, {'connected_gene': 'SAFB', 'score': 22.94}, {'connected_gene': 'RANBP3', 'score': 21.34}, {'connected_gene': 'SAFB2', 'score': 19.58}, {'connected_gene': 'VMAC', 'score': 17.21}, {'connected_gene': 'TRIP10', 'score': 14.53}, {'connected_gene': 'GPR108', 'score': 14.42}, {'connected_gene': 'GTF2F1', 'score': 13.2}, {'connected_gene': 'ENSG00000269680', 'score': 11.4}, {'connected_gene': 'ALKBH7', 'score': 10.22}, {'connected_gene': 'CLPP', 'score': 6.82}, {'connected_gene': 'SLC25A41', 'score': 6.54}, {'connected_gene': 'MIR3940', 'score': 0.44}]
chr19	GH19I006371	6371601	6375003	2.08	[{'connected_gene': 'ALKBH7', 'score': 560.76}, {'connected_gene': 'KHSRP', 'score': 48.0}, {'connected_gene': 'DUS3L', 'score': 45.04}, {'connected_gene': 'ZNF557', 'score': 35.23}, {'connected_gene': 'SNRPEP4', 'score': 25.7}, {'connected_gene': 'RANBP3', 'score': 23.1}, {'connected_gene': 'SAFB', 'score': 19.77}, {'connected_gene': 'TRIP10', 'score': 14.53}, {'connected_gene': 'GTF2F1', 'score': 12.71}, {'connected_gene': 'ENSG00000269680', 'score': 11.4}, {'connected_gene': 'ENSG00000267571', 'score': 10.26}, {'connected_gene': 'CLPP', 'score': 6.9}, {'connected_gene': 'PSPN', 'score': 0.44}]
chr19	GH19I006201	6201520	6202403	1.04	[{'connected_gene': 'CLPP', 'score': 12.01}, {'connected_gene': 'ALKBH7', 'score': 12.0}, {'connected_gene': 'ENSG00000284490', 'score': 0.77}, {'connected_gene': 'LOC105372255', 'score': 0.77}, {'connected_gene': 'RFX2', 'score': 0.77}, {'connected_gene': 'GC19M006213', 'score': 0.39}, {'connected_gene': 'GC19P006189', 'score': 0.39}]
chr19	GH19I006360	6360890	6363649	2.05	[{'connected_gene': 'CLPP', 'score': 557.55}, {'connected_gene': 'ENSG00000269802', 'score': 550.77}, {'connected_gene': 'GC19P006362', 'score': 550.77}, {'connected_gene': 'GC19P006361', 'score': 550.77}, {'connected_gene': 'SNRPEP4', 'score': 10.68}, {'connected_gene': 'ENSG00000267571', 'score': 10.64}, {'connected_gene': 'RPL36', 'score': 9.74}, {'connected_gene': 'GTF2F1', 'score': 8.31}, {'connected_gene': 'SLC25A41', 'score': 4.7}, {'connected_gene': 'ALKBH7', 'score': 0.39}]
chr19	GH19I006357	6357935	6358520	0.43	[{'connected_gene': 'CLPP', 'score': 7.55}, {'connected_gene': 'ENSG00000269802', 'score': 0.77}, {'connected_gene': 'GC19P006355', 'score': 0.77}]
chr19	GH19I006198	6198900	6200464	1.68	[{'connected_gene': 'RFX2', 'score': 550.77}, {'connected_gene': 'ENSG00000284490', 'score': 550.77}, {'connected_gene': 'LOC105372255', 'score': 550.77}, {'connected_gene': 'SAFB2', 'score': 19.84}, {'connected_gene': 'GTF2F1', 'score': 19.3}, {'connected_gene': 'ZNF557', 'score': 14.87}, {'connected_gene': 'DUS3L', 'score': 12.44}, {'connected_gene': 'CLPP', 'score': 12.01}, {'connected_gene': 'ALKBH7', 'score': 12.0}, {'connected_gene': 'ENSG00000267571', 'score': 11.09}, {'connected_gene': 'VMAC', 'score': 10.68}, {'connected_gene': 'SAFB', 'score': 10.4}, {'connected_gene': 'GPR108', 'score': 10.31}, {'connected_gene': 'GC19M006213', 'score': 0.39}, {'connected_gene': 'GC19P006189', 'score': 0.39}]
chr19	GH19I006377	6377717	6378951	0.31	[{'connected_gene': 'PSPN', 'score': 550.77}, {'connected_gene': 'GTF2F1', 'score': 12.49}, {'connected_gene': 'SLC25A41', 'score': 10.43}, {'connected_gene': 'CLPP', 'score': 6.52}, {'connected_gene': 'ALKBH7', 'score': 0.44}]
chr19	GH19I006392	6392045	6395503	2.26	[{'connected_gene': 'GTF2F1', 'score': 562.98}, {'connected_gene': 'MIR6790', 'score': 550.77}, {'connected_gene': 'LOC390877', 'score': 550.77}, {'connected_gene': 'KHSRP', 'score': 24.77}, {'connected_gene': 'SNRPEP4', 'score': 19.8}, {'connected_gene': 'SAFB', 'score': 14.27}, {'connected_gene': 'ZNF557', 'score': 13.41}, {'connected_gene': 'ENSG00000267571', 'score': 12.77}, {'connected_gene': 'DUS3L', 'score': 12.15}, {'connected_gene': 'RANBP3', 'score': 10.61}, {'connected_gene': 'CLPP', 'score': 6.83}, {'connected_gene': 'SLC25A41', 'score': 5.09}]
chr19	GH19I006333	6333583	6333642	0.68	[{'connected_gene': 'ACER1', 'score': 550.37}, {'connected_gene': 'CLPP', 'score': 13.39}, {'connected_gene': 'ALKBH7', 'score': 13.36}, {'connected_gene': 'GTF2F1', 'score': 5.65}, {'connected_gene': 'GC19P006350', 'score': 0.39}, {'connected_gene': 'GC19M006283', 'score': 0.28}]