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
ENST00000391807	[[51479728, 51480947], [51483043, 51483180], [51483495, 51483743], [51485022, 51485170], [51485582, 51485713], [51487027, 51487071]]	[[51480791, 51480947], [51483043, 51483180], [51483495, 51483743], [51485022, 51485170], [51485582, 51485655]]
ENST00000304045	[[51479737, 51480947], [51483043, 51483180], [51483495, 51483743], [51485582, 51485713], [51487106, 51487355]]	[[51483615, 51483743], [51485582, 51485655]]
ENST00000595820	[[51480043, 51480947], [51483043, 51483180], [51483495, 51483743], [51485022, 51485170], [51485582, 51485713], [51487106, 51487294]]	[[51480791, 51480947], [51483043, 51483180], [51483495, 51483743], [51485022, 51485170], [51485582, 51485655]]
ENST00000336317	[[51480338, 51480947], [51483043, 51483180], [51483495, 51483743], [51485582, 51485713], [51487106, 51487320]]	[[51480791, 51480947], [51483043, 51483180], [51483495, 51483625]]
ENST00000597707	[[51480614, 51480947], [51483043, 51483180], [51483495, 51483743], [51485022, 51485170], [51487106, 51487294]]	[[51480791, 51480947], [51483043, 51483180], [51483495, 51483743], [51485022, 51485027]]
ENST00000593904	[[51483541, 51483743], [51485022, 51485170], [51485582, 51485713], [51487027, 51487170]]	[[51483541, 51483743], [51485022, 51485027]]
ENST00000595638	[[51485350, 51485713], [51487106, 51487320]]	None
NM_139277	[[51479734, 51480947], [51483043, 51483180], [51483495, 51483743], [51485022, 51485170], [51485582, 51485713], [51487027, 51487071]]	[[51480791, 51480947], [51483043, 51483180], [51483495, 51483743], [51485022, 51485170], [51485582, 51485655]]
NM_005046	[[51479734, 51480947], [51483043, 51483180], [51483495, 51483743], [51485022, 51485170], [51485582, 51485713], [51487106, 51487320]]	[[51480791, 51480947], [51483043, 51483180], [51483495, 51483743], [51485022, 51485170], [51485582, 51485655]]
NM_001243126	[[51479734, 51480947], [51483043, 51483180], [51483495, 51483743], [51485582, 51485713], [51487106, 51487320]]	[[51480791, 51480947], [51483043, 51483180], [51483495, 51483743], [51485582, 51485713], [51487106, 51487175]]
NM_001207053	[[51479734, 51480947], [51483043, 51483180], [51483495, 51483743], [51485022, 51485170], [51487106, 51487320]]	[[51480791, 51480947], [51483043, 51483180], [51483495, 51483743], [51485022, 51485027]]

Promoter

Chrom	Start	End	Description
chr19	51487157	51487179	CAGE_peak_1_at_KLK7_5end
chr19	51487251	51487262	CAGE_peak_3_at_KLK7_5end
chr19	51487282	51487346	CAGE_peak_2_at_KLK7_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I050968	50968118	50970074	1.21	[{'connected_gene': 'KLK6', 'score': 562.38}, {'connected_gene': 'ENSG00000267879', 'score': 550.77}, {'connected_gene': 'KLK7', 'score': 11.31}, {'connected_gene': 'KLK5', 'score': 8.89}, {'connected_gene': 'ENSG00000269495', 'score': 5.52}, {'connected_gene': 'ZNF473', 'score': 5.06}, {'connected_gene': 'LOC105372442', 'score': 0.44}]
chr19	GH19I050975	50975406	50976374	0.69	[{'connected_gene': 'KLK6', 'score': 0.44}, {'connected_gene': 'ENSG00000267879', 'score': 0.44}, {'connected_gene': 'KLK7', 'score': 0.44}]
chr19	GH19I050983	50983905	50983964	0.68	[{'connected_gene': 'KLK7', 'score': 558.9}, {'connected_gene': 'KLK6', 'score': 0.39}, {'connected_gene': 'ENSG00000267879', 'score': 0.37}]
chr19	GH19I050984	50984028	50984087	0.68	[{'connected_gene': 'KLK7', 'score': 550.77}, {'connected_gene': 'KLK6', 'score': 0.39}, {'connected_gene': 'ENSG00000267879', 'score': 0.37}]
chr19	GH19I050991	50991799	50993618	0.54	[{'connected_gene': 'KLK7', 'score': 8.2}, {'connected_gene': 'KLK8', 'score': 7.09}, {'connected_gene': 'ENSG00000267879', 'score': 0.34}]
chr19	GH19I050999	50999723	51003350	1.52	[{'connected_gene': 'KLK8', 'score': 560.66}, {'connected_gene': 'KLK10', 'score': 6.69}, {'connected_gene': 'ENSG00000269741', 'score': 0.44}, {'connected_gene': 'KLK9', 'score': 0.44}, {'connected_gene': 'KLK7', 'score': 0.37}, {'connected_gene': 'ENSG00000267879', 'score': 0.29}]