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
ENST00000381750	[[4792868, 4793227], [4823547, 4823619], [4826857, 4827033], [4833153, 4833228], [4834140, 4834265], [4841231, 4841357], [4844524, 4844681], [4849446, 4849550], [4860124, 4861064]]	[[4793091, 4793227], [4823547, 4823619], [4826857, 4827033], [4833153, 4833228], [4834140, 4834265], [4841231, 4841357], [4844524, 4844681], [4849446, 4849550], [4860124, 4860275]]
ENST00000442869	[[4792979, 4793227], [4823547, 4823619], [4833153, 4833228], [4834140, 4834265], [4841231, 4841357], [4844524, 4844681], [4849446, 4849550], [4860124, 4860173]]	[[4834155, 4834265], [4841231, 4841357], [4844524, 4844681], [4849446, 4849550], [4860124, 4860173]]
ENST00000381730	[[4836725, 4836764], [4841204, 4841357], [4844524, 4844681], [4849446, 4849550], [4860124, 4860472]]	[[4841205, 4841357], [4844524, 4844681], [4849446, 4849550], [4860124, 4860275]]
ENST00000381728	[[4839517, 4839693], [4841204, 4841357], [4844524, 4844681], [4849446, 4849550], [4860124, 4860292]]	[[4841205, 4841357], [4844524, 4844681], [4849446, 4849550], [4860124, 4860275]]
ENST00000448872	[[4839768, 4839859], [4841201, 4841357], [4844524, 4844681], [4849446, 4849550], [4860124, 4860436]]	[[4841205, 4841357], [4844524, 4844681], [4849446, 4849550], [4860124, 4860275]]
ENST00000381732	[[4792975, 4793227], [4823547, 4823619], [4826857, 4827337]]	[[4793091, 4793227], [4823547, 4823619], [4826857, 4827177]]
ENST00000473230	[[4793086, 4793227], [4823547, 4823619], [4833153, 4833228], [4841204, 4841357]]	None
ENST00000441844	[[4839776, 4839859], [4841204, 4841357], [4844524, 4844681], [4849446, 4849550]]	[[4841205, 4841357], [4844524, 4844681], [4849446, 4849550]]
ENST00000445485	[[4860453, 4860901], [4884487, 4885917]]	None
NM_001286699	[[4792833, 4793227], [4833153, 4833228], [4834140, 4834265], [4841231, 4841357], [4844524, 4844681], [4849446, 4849550], [4860124, 4861077]]	[[4834155, 4834265], [4841231, 4841357], [4844524, 4844681], [4849446, 4849550], [4860124, 4860275]]
NM_001286700	[[4792833, 4793227], [4823547, 4823619], [4833153, 4833228], [4834140, 4834265], [4841231, 4841357], [4844524, 4844681], [4849446, 4849550], [4860124, 4861077]]	[[4834155, 4834265], [4841231, 4841357], [4844524, 4844681], [4849446, 4849550], [4860124, 4860275]]
NM_005772	[[4792833, 4793227], [4823547, 4823619], [4826857, 4827033], [4833153, 4833228], [4834140, 4834265], [4841231, 4841357], [4844524, 4844681], [4849446, 4849550], [4860124, 4861077]]	[[4793091, 4793227], [4823547, 4823619], [4826857, 4827033], [4833153, 4833228], [4834140, 4834265], [4841231, 4841357], [4844524, 4844681], [4849446, 4849550], [4860124, 4860275]]
NM_001286701	[[4839768, 4839859], [4841201, 4841357], [4844524, 4844681], [4849446, 4849550], [4860124, 4861077]]	[[4841205, 4841357], [4844524, 4844681], [4849446, 4849550], [4860124, 4860275]]

Promoter

Chrom	Start	End	Description
chr9	4792880	4792902	CAGE_peak_3_at_RCL1_5end
chr9	4792904	4792964	CAGE_peak_1_at_RCL1_5end
chr9	4792971	4792982	CAGE_peak_4_at_RCL1_5end
chr9	4792987	4793004	CAGE_peak_2_at_RCL1_5end
chr9	4793031	4793046	CAGE_peak_5_at_RCL1_5end
chr9	4839762	4839779	CAGE_peak_6_at_RCL1_5end
chr9	4839792	4839815	CAGE_peak_7_at_RCL1_5end
chr9	4839818	4839828	CAGE_peak_8_at_RCL1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr9	GH09I005556	5556728	5559209	1.13	[{'connected_gene': 'PDCD1LG2', 'score': 11.94}, {'connected_gene': 'CD274', 'score': 11.69}, {'connected_gene': 'RCL1', 'score': 6.2}, {'connected_gene': 'RIC1', 'score': 5.4}, {'connected_gene': 'KIAA2026', 'score': 1.48}, {'connected_gene': 'GC09M005559', 'score': 0.37}, {'connected_gene': 'GC09P005527', 'score': 0.29}]
chr9	GH09I004783	4783321	4783470	0.2	[{'connected_gene': 'RPS5P6', 'score': 550.77}, {'connected_gene': 'GC09P004780', 'score': 0.77}, {'connected_gene': 'RCL1', 'score': 0.44}]
chr9	GH09I004935	4935002	4940000	1.55	[{'connected_gene': 'JAK2', 'score': 27.2}, {'connected_gene': 'RCL1', 'score': 4.76}, {'connected_gene': 'HNRNPA1P41', 'score': 0.44}, {'connected_gene': 'PIR61723', 'score': 0.22}, {'connected_gene': 'GC09M004845', 'score': 0.13}]
chr9	GH09I004854	4854434	4856991	1.22	[{'connected_gene': 'JAK2', 'score': 22.39}, {'connected_gene': 'RCL1', 'score': 7.02}, {'connected_gene': 'ENSG00000228165', 'score': 0.44}, {'connected_gene': 'PIR61723', 'score': 0.34}, {'connected_gene': 'GC09M004845', 'score': 0.08}]
chr9	GH09I004861	4861287	4865258	1.18	[{'connected_gene': 'JAK2', 'score': 15.18}, {'connected_gene': 'ENSG00000228165', 'score': 0.39}, {'connected_gene': 'PIR61723', 'score': 0.37}, {'connected_gene': 'RCL1', 'score': 0.19}, {'connected_gene': 'GC09M004845', 'score': 0.08}]
chr9	GH09I004865	4865568	4867080	1.02	[{'connected_gene': 'JAK2', 'score': 10.46}, {'connected_gene': 'PIR61723', 'score': 0.39}, {'connected_gene': 'ENSG00000228165', 'score': 0.37}, {'connected_gene': 'RCL1', 'score': 0.19}, {'connected_gene': 'GC09M004845', 'score': 0.08}]
chr9	GH09I004857	4857221	4857370	0.2	[{'connected_gene': 'JAK2', 'score': 10.69}, {'connected_gene': 'ENSG00000228165', 'score': 0.44}, {'connected_gene': 'PIR61723', 'score': 0.34}, {'connected_gene': 'RCL1', 'score': 0.21}, {'connected_gene': 'GC09M004845', 'score': 0.08}]
chr9	GH09I004791	4791661	4794975	2.03	[{'connected_gene': 'RCL1', 'score': 567.29}, {'connected_gene': 'RIC1', 'score': 13.8}, {'connected_gene': 'JAK2', 'score': 11.33}, {'connected_gene': 'PDSS1P1', 'score': 11.03}, {'connected_gene': 'ENSG00000228165', 'score': 10.93}, {'connected_gene': 'MIR101-2', 'score': 10.93}, {'connected_gene': 'KLF4P1', 'score': 0.39}, {'connected_gene': 'GC09P004780', 'score': 0.39}]
chr9	GH09I004835	4835219	4835506	0.46	[{'connected_gene': 'RCL1', 'score': 19.29}, {'connected_gene': 'CDC37L1', 'score': 1.32}, {'connected_gene': 'GC09P004850', 'score': 0.39}, {'connected_gene': 'KLF4P1', 'score': 0.29}]
chr9	GH09I004815	4815101	4816011	0.86	[{'connected_gene': 'RCL1', 'score': 36.35}, {'connected_gene': 'ENSG00000228165', 'score': 11.88}, {'connected_gene': 'MIR101-2', 'score': 11.88}, {'connected_gene': 'JAK2', 'score': 10.75}, {'connected_gene': 'KLF4P1', 'score': 0.39}, {'connected_gene': 'GC09P004850', 'score': 0.29}, {'connected_gene': 'GC09P004780', 'score': 0.28}]
chr9	GH09I004821	4821897	4822617	0.65	[{'connected_gene': 'RCL1', 'score': 30.4}, {'connected_gene': 'ENSG00000228165', 'score': 11.53}, {'connected_gene': 'MIR101-2', 'score': 11.53}, {'connected_gene': 'JAK2', 'score': 10.6}, {'connected_gene': 'KLF4P1', 'score': 0.37}, {'connected_gene': 'GC09P004850', 'score': 0.31}]
chr9	GH09I004828	4828601	4835215	1.36	[{'connected_gene': 'RCL1', 'score': 33.05}, {'connected_gene': 'JAK2', 'score': 10.29}, {'connected_gene': 'GC09P004850', 'score': 0.37}, {'connected_gene': 'KLF4P1', 'score': 0.31}]
chr9	GH09I004837	4837092	4838921	0.99	[{'connected_gene': 'RCL1', 'score': 6.71}, {'connected_gene': 'GC09P004850', 'score': 0.39}, {'connected_gene': 'KLF4P1', 'score': 0.29}]
chr9	GH09I004839	4839719	4839778	1.23	[{'connected_gene': 'RCL1', 'score': 550.25}, {'connected_gene': 'GC09P004850', 'score': 0.39}, {'connected_gene': 'KLF4P1', 'score': 0.29}]
chr9	GH09I004848	4848901	4851592	1.15	[{'connected_gene': 'GC09P004853', 'score': 550.77}, {'connected_gene': 'MIR101-2', 'score': 550.77}, {'connected_gene': 'GC09P004850', 'score': 550.77}, {'connected_gene': 'ENSG00000228165', 'score': 550.77}, {'connected_gene': 'GC09P004851', 'score': 550.77}, {'connected_gene': 'JAK2', 'score': 12.73}, {'connected_gene': 'RCL1', 'score': 6.96}, {'connected_gene': 'KLF4P1', 'score': 0.25}, {'connected_gene': 'GC09M004845', 'score': 0.08}]
chr9	GH09I004797	4797403	4798990	1.11	[{'connected_gene': 'ENSG00000228165', 'score': 10.94}, {'connected_gene': 'MIR101-2', 'score': 10.94}, {'connected_gene': 'JAK2', 'score': 10.5}, {'connected_gene': 'KLF4P1', 'score': 0.44}, {'connected_gene': 'RCL1', 'score': 0.44}, {'connected_gene': 'GC09P004780', 'score': 0.37}]
chr9	GH09I004799	4799881	4800010	0.31	[{'connected_gene': 'ENSG00000228165', 'score': 10.94}, {'connected_gene': 'MIR101-2', 'score': 10.94}, {'connected_gene': 'JAK2', 'score': 10.51}, {'connected_gene': 'KLF4P1', 'score': 0.44}, {'connected_gene': 'RCL1', 'score': 0.44}, {'connected_gene': 'GC09P004780', 'score': 0.37}]
chr9	GH09I004851	4851721	4851870	0.31	[{'connected_gene': 'GC09P004853', 'score': 550.77}, {'connected_gene': 'MIR101-2', 'score': 550.77}, {'connected_gene': 'GC09P004850', 'score': 550.77}, {'connected_gene': 'ENSG00000228165', 'score': 550.77}, {'connected_gene': 'GC09P004851', 'score': 550.77}, {'connected_gene': 'PIR61723', 'score': 0.31}, {'connected_gene': 'RCL1', 'score': 0.22}, {'connected_gene': 'GC09M004845', 'score': 0.08}]
chr9	GH09I004852	4852407	4852936	0.87	[{'connected_gene': 'ENSG00000228165', 'score': 0.77}, {'connected_gene': 'PIR61723', 'score': 0.31}, {'connected_gene': 'RCL1', 'score': 0.22}, {'connected_gene': 'GC09M004845', 'score': 0.08}]
chr9	GH09I004873	4873230	4874710	0.2	[{'connected_gene': 'PIR61723', 'score': 0.44}, {'connected_gene': 'ENSG00000228165', 'score': 0.34}, {'connected_gene': 'RCL1', 'score': 0.18}, {'connected_gene': 'GC09M004845', 'score': 0.08}]
chr9	GH09I004853	4853581	4853730	0.4	[{'connected_gene': 'ENSG00000228165', 'score': 0.77}, {'connected_gene': 'PIR61723', 'score': 0.31}, {'connected_gene': 'RCL1', 'score': 0.21}, {'connected_gene': 'GC09M004845', 'score': 0.08}]
chr9	GH09I004847	4847374	4848048	0.2	[{'connected_gene': 'GC09P004850', 'score': 0.77}, {'connected_gene': 'KLF4P1', 'score': 0.26}, {'connected_gene': 'RCL1', 'score': 0.23}, {'connected_gene': 'GC09M004845', 'score': 0.08}]
chr9	GH09I004840	4839561	4839710	0.93	[{'connected_gene': 'GC09P004850', 'score': 0.39}, {'connected_gene': 'KLF4P1', 'score': 0.29}, {'connected_gene': 'RCL1', 'score': 0.25}]