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

Promoter

Chrom	Start	End	Description
chr19	51466720	51466732	CAGE_peak_12_at_KLK6_5end
chr19	51471362	51471380	CAGE_peak_7_at_KLK6_5end
chr19	51471381	51471383	CAGE_peak_14_at_KLK6_5end
chr19	51471909	51471917	CAGE_peak_10_at_KLK6_5end
chr19	51471925	51471946	CAGE_peak_4_at_KLK6_5end
chr19	51471965	51471976	CAGE_peak_5_at_KLK6_5end
chr19	51472014	51472030	CAGE_peak_2_at_KLK6_5end
chr19	51472031	51472042	CAGE_peak_6_at_KLK6_5end
chr19	51472081	51472088	CAGE_peak_8_at_KLK6_5end
chr19	51472185	51472197	CAGE_peak_11_at_KLK6_5end
chr19	51472222	51472234	CAGE_peak_9_at_KLK6_5end
chr19	51472780	51472820	CAGE_peak_3_at_KLK6_5end
chr19	51472823	51472852	CAGE_peak_1_at_KLK6_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I050931	50931357	50934289	0.69	[{'connected_gene': 'KLK4', 'score': 12.31}, {'connected_gene': 'KLK6', 'score': 11.71}, {'connected_gene': 'KLK2', 'score': 11.06}, {'connected_gene': 'KLK15', 'score': 11.01}, {'connected_gene': 'KLK1', 'score': 11.0}, {'connected_gene': 'LINC01869', 'score': 10.98}, {'connected_gene': 'C19orf48', 'score': 10.87}, {'connected_gene': 'SNORD88C', 'score': 10.86}, {'connected_gene': 'KLK14', 'score': 10.18}, {'connected_gene': 'CTU1', 'score': 9.72}, {'connected_gene': 'PPIAP59', 'score': 0.77}]
chr19	GH19I050566	50566204	50566501	0.94	[{'connected_gene': 'LRRC4B', 'score': 553.1}, {'connected_gene': 'SYT3', 'score': 5.06}, {'connected_gene': 'KLK6', 'score': 2.52}, {'connected_gene': 'KCNC3', 'score': 1.28}, {'connected_gene': 'ENSG00000268231', 'score': 0.44}]
chr19	GH19I050509	50508805	50509125	0.55	[{'connected_gene': 'SYT3', 'score': 1.6}, {'connected_gene': 'SHANK1', 'score': 1.29}, {'connected_gene': 'KLK6', 'score': 1.28}, {'connected_gene': 'JOSD2', 'score': 0.77}, {'connected_gene': 'LOC100506114', 'score': 0.34}]
chr19	GH19I051016	51016639	51018114	1.11	[{'connected_gene': 'ZNF175', 'score': 29.06}, {'connected_gene': 'ZNF615', 'score': 25.61}, {'connected_gene': 'KLK10', 'score': 23.63}, {'connected_gene': 'ZNF577', 'score': 19.9}, {'connected_gene': 'LRRC4B', 'score': 15.86}, {'connected_gene': 'POLD1', 'score': 13.51}, {'connected_gene': 'SPACA6', 'score': 13.46}, {'connected_gene': 'ZNF613', 'score': 12.25}, {'connected_gene': 'ZNF350', 'score': 11.4}, {'connected_gene': 'KLK13', 'score': 11.2}, {'connected_gene': 'KLK6', 'score': 11.08}, {'connected_gene': 'ZNF473', 'score': 10.98}, {'connected_gene': 'ENSG00000267808', 'score': 10.77}, {'connected_gene': 'SHANK1', 'score': 10.69}, {'connected_gene': 'ZNF649', 'score': 10.65}, {'connected_gene': 'KLK14', 'score': 10.37}, {'connected_gene': 'VRK3', 'score': 10.36}, {'connected_gene': 'ENSG00000268231', 'score': 10.26}, {'connected_gene': 'LINC01869', 'score': 9.46}, {'connected_gene': 'C19orf48', 'score': 9.46}, {'connected_gene': 'SNORD88C', 'score': 9.46}, {'connected_gene': 'ENSG00000268739', 'score': 0.77}]
chr19	GH19I051018	51018220	51020644	1.55	[{'connected_gene': 'KLK10', 'score': 574.42}, {'connected_gene': 'ZNF577', 'score': 28.71}, {'connected_gene': 'ZNF649', 'score': 25.8}, {'connected_gene': 'ZNF175', 'score': 22.55}, {'connected_gene': 'ENSG00000269483', 'score': 15.54}, {'connected_gene': 'KLK13', 'score': 11.2}, {'connected_gene': 'KLK6', 'score': 11.08}, {'connected_gene': 'ZNF350', 'score': 10.97}, {'connected_gene': 'ZNF615', 'score': 10.56}, {'connected_gene': 'KLK14', 'score': 10.37}, {'connected_gene': 'ZNF473', 'score': 10.06}, {'connected_gene': 'SNORD88C', 'score': 9.46}, {'connected_gene': 'LINC01869', 'score': 9.46}, {'connected_gene': 'C19orf48', 'score': 9.46}, {'connected_gene': 'ENSG00000267879', 'score': 5.38}, {'connected_gene': 'ENSG00000268739', 'score': 0.44}]
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	GH19I050929	50929945	50930094	0.78	[{'connected_gene': 'KLK6', 'score': 11.71}, {'connected_gene': 'KLK2', 'score': 11.07}, {'connected_gene': 'C19orf48', 'score': 10.87}, {'connected_gene': 'SNORD88C', 'score': 10.87}, {'connected_gene': 'LINC01869', 'score': 10.87}, {'connected_gene': 'CTU1', 'score': 9.72}, {'connected_gene': 'PPIAP59', 'score': 0.44}, {'connected_gene': 'KLK4', 'score': 0.37}]
chr19	GH19I050966	50966194	50966253	0.61	[{'connected_gene': 'KLK6', 'score': 550.77}, {'connected_gene': 'ENSG00000267879', 'score': 550.77}, {'connected_gene': 'LOC105372442', 'score': 0.77}]
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	GH19I050695	50695166	50695581	0.76	[{'connected_gene': 'ASPDH', 'score': 19.0}, {'connected_gene': 'SYT3', 'score': 15.73}, {'connected_gene': 'KCNC3', 'score': 14.8}, {'connected_gene': 'LRRC4B', 'score': 13.31}, {'connected_gene': 'SPACA6P-AS', 'score': 11.36}, {'connected_gene': 'FUZ', 'score': 9.95}, {'connected_gene': 'SHANK1', 'score': 3.95}, {'connected_gene': 'KLK6', 'score': 2.92}, {'connected_gene': 'PIR41386', 'score': 0.44}]
chr19	GH19I050663	50663741	50664139	0.55	[{'connected_gene': 'KLK14', 'score': 2.28}, {'connected_gene': 'SYT3', 'score': 2.18}, {'connected_gene': 'KLK6', 'score': 2.06}, {'connected_gene': 'C19orf81', 'score': 1.96}, {'connected_gene': 'KLK4', 'score': 1.57}, {'connected_gene': 'PIR41386', 'score': 0.28}, {'connected_gene': 'SHANK1', 'score': 0.22}]
chr19	GH19I050962	50962245	50962532	0.51	[{'connected_gene': 'LOC105372442', 'score': 550.77}, {'connected_gene': 'ENSG00000279676', 'score': 550.77}, {'connected_gene': 'KLK4', 'score': 14.92}, {'connected_gene': 'SIGLECL1', 'score': 10.52}, {'connected_gene': 'C19orf81', 'score': 9.79}, {'connected_gene': 'KLK14', 'score': 7.6}, {'connected_gene': 'ACP4', 'score': 4.15}, {'connected_gene': 'IGLON5', 'score': 2.1}, {'connected_gene': 'ETFB', 'score': 2.05}, {'connected_gene': 'SYT3', 'score': 1.85}, {'connected_gene': 'KLK6', 'score': 0.44}, {'connected_gene': 'KLK5', 'score': 0.44}, {'connected_gene': 'ENSG00000269495', 'score': 0.39}]
chr19	GH19I050555	50555557	50557526	1.61	[{'connected_gene': 'ENSG00000268231', 'score': 550.77}, {'connected_gene': 'ASPDH', 'score': 16.45}, {'connected_gene': 'JOSD2', 'score': 11.79}, {'connected_gene': 'PTOV1', 'score': 10.58}, {'connected_gene': 'LINC01869', 'score': 9.99}, {'connected_gene': 'C19orf48', 'score': 9.99}, {'connected_gene': 'SNORD88C', 'score': 9.99}, {'connected_gene': 'KLK4', 'score': 5.14}, {'connected_gene': 'C19orf81', 'score': 5.08}, {'connected_gene': 'SYT3', 'score': 2.81}, {'connected_gene': 'ACP4', 'score': 2.29}, {'connected_gene': 'LRRC4B', 'score': 1.67}, {'connected_gene': 'KLK6', 'score': 1.45}]

Transcript ID	Transcript exon region	Coding exon region
ENST00000376851	[[51461886, 51462572], [51464999, 51465136], [51466557, 51466805], [51470424, 51470581], [51471320, 51471368], [51471796, 51472228]]	[[51462419, 51462572], [51464999, 51465136], [51466557, 51466805], [51470424, 51470581], [51471320, 51471360]]
ENST00000310157	[[51461886, 51462572], [51464999, 51465136], [51466557, 51466805], [51470424, 51470581], [51471320, 51471368], [51471796, 51471847], [51472745, 51472929]]	[[51462419, 51462572], [51464999, 51465136], [51466557, 51466805], [51470424, 51470581], [51471320, 51471360]]
ENST00000391808	[[51461887, 51462572], [51464999, 51465136], [51466557, 51466805], [51470424, 51470581], [51471796, 51472047]]	[[51462419, 51462572], [51464999, 51465136], [51466557, 51466681]]
ENST00000597379	[[51461887, 51462572], [51464999, 51465136], [51466557, 51466805], [51471320, 51471368], [51471796, 51471847], [51472745, 51472929]]	[[51466722, 51466805], [51471320, 51471360]]
ENST00000456750	[[51462404, 51462572], [51464999, 51465136], [51466557, 51466681]]	[[51462419, 51462572], [51464999, 51465136], [51466557, 51466681]]
ENST00000376853	[[51462404, 51462572], [51470424, 51470581], [51471320, 51471371]]	[[51462406, 51462572], [51470424, 51470581], [51471320, 51471360]]
ENST00000594641	[[51462404, 51462572], [51464999, 51465136], [51466557, 51466805], [51470424, 51470581], [51471320, 51471452]]	[[51462419, 51462572], [51464999, 51465136], [51466557, 51466805], [51470424, 51470581], [51471320, 51471360]]
ENST00000599881	[[51462413, 51462572], [51464999, 51465136], [51466557, 51466805], [51471320, 51471368], [51471796, 51472023]]	[[51466722, 51466805], [51471320, 51471360]]
ENST00000599690	[[51462413, 51462572], [51464999, 51465136], [51466557, 51466805], [51470424, 51470581], [51471796, 51472023]]	[[51466722, 51466805], [51470424, 51470551]]
ENST00000424910	[[51466722, 51466805], [51471320, 51471371]]	[[51466722, 51466805], [51471320, 51471360]]
NM_001012964	[[51461886, 51462572], [51464999, 51465136], [51466557, 51466805], [51470424, 51470581], [51471320, 51471368], [51471796, 51472228]]	[[51462419, 51462572], [51464999, 51465136], [51466557, 51466805], [51470424, 51470581], [51471320, 51471360]]
NM_001319949	[[51461886, 51462572], [51464999, 51465136], [51466557, 51466805], [51471320, 51471368], [51471796, 51472228]]	[[51462419, 51462572], [51464999, 51465136], [51466557, 51466681]]
NM_001012965	[[51461886, 51462572], [51464999, 51465136], [51466557, 51466805], [51470424, 51470581], [51471796, 51472228]]	[[51462419, 51462572], [51464999, 51465136], [51466557, 51466681]]
NM_002774	[[51461886, 51462572], [51464999, 51465136], [51466557, 51466805], [51470424, 51470581], [51471320, 51471368], [51471796, 51471847], [51472745, 51472929]]	[[51462419, 51462572], [51464999, 51465136], [51466557, 51466805], [51470424, 51470581], [51471320, 51471360]]
NM_001319948	[[51461886, 51462572], [51464999, 51465136], [51466557, 51466805], [51471320, 51471368], [51471796, 51471847], [51472745, 51472929]]	[[51462419, 51462572], [51464999, 51465136], [51466557, 51466681]]