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
ENST00000311672	[[46769302, 46769492], [46774772, 46774799], [46775826, 46775988], [46782223, 46782448]]	[[46769438, 46769492], [46774772, 46774799], [46775826, 46775988], [46782223, 46782256]]
ENST00000489056	[[46769369, 46769492], [46774772, 46774815], [46775826, 46775988], [46782223, 46782448]]	None
ENST00000486951	[[46769378, 46769492], [46774772, 46775345]]	None
ENST00000496387	[[46769380, 46769492], [46774772, 46774799], [46775568, 46775716], [46775826, 46775988], [46782223, 46782448]]	None
ENST00000460947	[[46775592, 46775988], [46782223, 46782448]]	None
NM_001297566	[[46769284, 46769492], [46775826, 46775988], [46782223, 46782449]]	[[46769438, 46769492], [46775826, 46775988], [46782223, 46782256]]
NM_006004	[[46769284, 46769492], [46774772, 46774799], [46775826, 46775988], [46782223, 46782449]]	[[46769438, 46769492], [46774772, 46774799], [46775826, 46775988], [46782223, 46782256]]
NM_001297565	[[46769284, 46769492], [46774772, 46774799], [46775568, 46775716], [46775826, 46775988], [46782223, 46782449]]	[[46775653, 46775716], [46775826, 46775988], [46782223, 46782256]]

Promoter

Chrom	Start	End	Description
chr1	46769322	46769324	CAGE_peak_2_at_UQCRH_5end
chr1	46769330	46769385	CAGE_peak_1_at_UQCRH_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I046330	46330952	46334001	1.26	[{'connected_gene': 'LURAP1', 'score': 13.61}, {'connected_gene': 'UQCRH', 'score': 13.12}, {'connected_gene': 'LRRC41', 'score': 11.85}, {'connected_gene': 'GC01M046335', 'score': 0.77}, {'connected_gene': 'GC01P046304', 'score': 0.31}, {'connected_gene': 'GC01P046305', 'score': 0.31}]
chr1	GH01I046325	46325258	46326358	0.67	[{'connected_gene': 'LURAP1', 'score': 22.76}, {'connected_gene': 'LRRC41', 'score': 12.8}, {'connected_gene': 'UQCRH', 'score': 12.8}, {'connected_gene': 'GC01M046335', 'score': 0.39}, {'connected_gene': 'GC01P046304', 'score': 0.34}, {'connected_gene': 'GC01P046305', 'score': 0.34}]
chr1	GH01I046338	46338783	46344313	2.33	[{'connected_gene': 'NSUN4', 'score': 601.39}, {'connected_gene': 'LRRC41', 'score': 39.35}, {'connected_gene': 'GPBP1L1', 'score': 34.49}, {'connected_gene': 'LURAP1', 'score': 23.45}, {'connected_gene': 'RPL7AP16', 'score': 22.86}, {'connected_gene': 'EFCAB14-AS1', 'score': 18.92}, {'connected_gene': 'UQCRH', 'score': 12.4}, {'connected_gene': 'RPS15AP10', 'score': 11.99}, {'connected_gene': 'MOB3C', 'score': 10.68}, {'connected_gene': 'PIK3R3', 'score': 10.64}, {'connected_gene': 'CYP4B1', 'score': 10.6}, {'connected_gene': 'FAAH', 'score': 7.44}, {'connected_gene': 'GC01M046344', 'score': 0.77}, {'connected_gene': 'PIR34500', 'score': 0.77}]
chr1	GH01I046347	46347709	46348446	0.98	[{'connected_gene': 'NSUN4', 'score': 47.8}, {'connected_gene': 'LRRC41', 'score': 26.3}, {'connected_gene': 'EFCAB14-AS1', 'score': 19.27}, {'connected_gene': 'GPBP1L1', 'score': 19.21}, {'connected_gene': 'UQCRH', 'score': 11.63}, {'connected_gene': 'RPL7AP16', 'score': 11.12}, {'connected_gene': 'CYP4B1', 'score': 10.6}, {'connected_gene': 'LURAP1', 'score': 6.23}, {'connected_gene': 'GC01M046344', 'score': 0.77}, {'connected_gene': 'ENSG00000225779', 'score': 0.34}]
chr1	GH01I046299	46299973	46305583	2.31	[{'connected_gene': 'LRRC41', 'score': 595.66}, {'connected_gene': 'UQCRH', 'score': 550.77}, {'connected_gene': 'GC01P046304', 'score': 550.77}, {'connected_gene': 'GC01P046305', 'score': 550.77}, {'connected_gene': 'GPBP1L1', 'score': 23.78}, {'connected_gene': 'LURAP1', 'score': 22.63}, {'connected_gene': 'TOE1', 'score': 22.15}, {'connected_gene': 'RPL7AP16', 'score': 14.98}, {'connected_gene': 'EFCAB14-AS1', 'score': 13.14}, {'connected_gene': 'NASP', 'score': 12.89}, {'connected_gene': 'RPS15AP10', 'score': 11.95}, {'connected_gene': 'MOB3C', 'score': 11.71}, {'connected_gene': 'IPP', 'score': 11.61}, {'connected_gene': 'EFCAB14', 'score': 11.12}, {'connected_gene': 'ZSWIM5', 'score': 10.33}, {'connected_gene': 'TMEM69', 'score': 10.06}, {'connected_gene': 'FAAH', 'score': 5.9}, {'connected_gene': 'CCDC163', 'score': 4.8}, {'connected_gene': 'GC01M046227', 'score': 0.44}]
chr1	GH01I046328	46328135	46328223	0.48	[{'connected_gene': 'LRRC41', 'score': 12.27}, {'connected_gene': 'UQCRH', 'score': 12.27}, {'connected_gene': 'GC01M046335', 'score': 0.44}, {'connected_gene': 'GC01P046304', 'score': 0.34}, {'connected_gene': 'GC01P046305', 'score': 0.34}]
chr1	GH01I046307	46307001	46307400	0.69	[{'connected_gene': 'GC01P046304', 'score': 0.77}, {'connected_gene': 'GC01P046305', 'score': 0.77}, {'connected_gene': 'UQCRH', 'score': 0.77}, {'connected_gene': 'GC01M046335', 'score': 0.31}]
chr1	GH01I046308	46307574	46308452	0.38	[{'connected_gene': 'GC01P046304', 'score': 0.77}, {'connected_gene': 'GC01P046305', 'score': 0.77}, {'connected_gene': 'UQCRH', 'score': 0.77}, {'connected_gene': 'GC01M046335', 'score': 0.31}]