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
ENST00000267842	[[50474392, 50475102], [50489696, 50489906], [50494683, 50494842], [50497435, 50497560], [50515161, 50515356], [50518184, 50518275], [50519176, 50519375], [50521141, 50521239], [50526064, 50526195], [50528116, 50528592]]	[[50474624, 50475102], [50489696, 50489906], [50494683, 50494842], [50497435, 50497560], [50515161, 50515356], [50518184, 50518275], [50519176, 50519375], [50521141, 50521239], [50526064, 50526195], [50528116, 50528293]]
ENST00000380902	[[50474429, 50475102], [50489696, 50489906], [50497435, 50497560], [50515161, 50515356], [50518184, 50518275], [50519176, 50519375], [50521141, 50521239], [50526064, 50526195], [50528116, 50528575]]	[[50474624, 50475102], [50489696, 50489906], [50497435, 50497560], [50515161, 50515356], [50518184, 50518275], [50519176, 50519375], [50521141, 50521239], [50526064, 50526195], [50528116, 50528293]]
ENST00000544960	[[50483197, 50483301], [50489696, 50489906], [50490431, 50490679], [50494683, 50494842], [50497435, 50497560], [50515161, 50515356], [50518184, 50518275], [50519176, 50519375], [50521141, 50521239], [50526064, 50526195], [50528116, 50528581]]	[[50494700, 50494842], [50497435, 50497560], [50515161, 50515356], [50518184, 50518275], [50519176, 50519375], [50521141, 50521239], [50526064, 50526195], [50528116, 50528293]]
ENST00000559938	[[50497549, 50497560], [50515161, 50515356], [50518184, 50518331]]	None
NM_001159629	[[50474392, 50475102], [50489696, 50489906], [50497435, 50497560], [50515161, 50515356], [50518184, 50518275], [50519176, 50519375], [50521141, 50521239], [50526064, 50526195], [50528116, 50528589]]	[[50474624, 50475102], [50489696, 50489906], [50497435, 50497560], [50515161, 50515356], [50518184, 50518275], [50519176, 50519375], [50521141, 50521239], [50526064, 50526195], [50528116, 50528293]]
NM_003645	[[50474392, 50475102], [50489696, 50489906], [50494683, 50494842], [50497435, 50497560], [50515161, 50515356], [50518184, 50518275], [50519176, 50519375], [50521141, 50521239], [50526064, 50526195], [50528116, 50528589]]	[[50474624, 50475102], [50489696, 50489906], [50494683, 50494842], [50497435, 50497560], [50515161, 50515356], [50518184, 50518275], [50519176, 50519375], [50521141, 50521239], [50526064, 50526195], [50528116, 50528293]]

Promoter

Chrom	Start	End	Description
chr15	50474385	50474404	CAGE_peak_2_at_SLC27A2_5end
chr15	50474412	50474438	CAGE_peak_1_at_SLC27A2_5end
chr15	50474447	50474461	CAGE_peak_3_at_SLC27A2_5end
chr15	50474553	50474562	CAGE_peak_4_at_SLC27A2_5end
chr15	50474622	50474627	CAGE_peak_5_at_SLC27A2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr15	GH15I050064	50064282	50068773	1.29	[{'connected_gene': 'ATP8B4', 'score': 19.3}, {'connected_gene': 'GABPB1-IT1', 'score': 16.38}, {'connected_gene': 'ENSG00000259715', 'score': 15.87}, {'connected_gene': 'TRPM7', 'score': 15.01}, {'connected_gene': 'USP8', 'score': 14.74}, {'connected_gene': 'RPS20P34', 'score': 13.15}, {'connected_gene': 'ENSG00000259298', 'score': 11.75}, {'connected_gene': 'DTWD1', 'score': 10.93}, {'connected_gene': 'ENSG00000259618', 'score': 10.62}, {'connected_gene': 'AP4E1', 'score': 10.46}, {'connected_gene': 'SLC27A2', 'score': 4.57}, {'connected_gene': 'GABPB1', 'score': 2.23}, {'connected_gene': 'GC15P050107', 'score': 0.26}, {'connected_gene': 'RNA5SP394', 'score': 0.18}]
chr15	GH15I050107	50107001	50115461	2.03	[{'connected_gene': 'ATP8B4', 'score': 557.17}, {'connected_gene': 'GABPB1-IT1', 'score': 16.39}, {'connected_gene': 'TRPM7', 'score': 15.01}, {'connected_gene': 'ENSG00000259715', 'score': 14.99}, {'connected_gene': 'USP8', 'score': 14.25}, {'connected_gene': 'RPS20P34', 'score': 13.16}, {'connected_gene': 'ENSG00000259298', 'score': 11.76}, {'connected_gene': 'DTWD1', 'score': 10.93}, {'connected_gene': 'ENSG00000259618', 'score': 10.63}, {'connected_gene': 'AP4E1', 'score': 10.46}, {'connected_gene': 'SLC27A2', 'score': 6.57}, {'connected_gene': 'GABPB1', 'score': 2.1}, {'connected_gene': 'GC15P050107', 'score': 0.77}, {'connected_gene': 'GC15P050155', 'score': 0.26}]
chr15	GH15I050051	50051079	50056620	1.58	[{'connected_gene': 'ATP8B4', 'score': 12.38}, {'connected_gene': 'ENSG00000259715', 'score': 5.44}, {'connected_gene': 'SLC27A2', 'score': 4.18}, {'connected_gene': 'USP8', 'score': 4.02}, {'connected_gene': 'GABPB1', 'score': 2.13}, {'connected_gene': 'GC15P050107', 'score': 0.23}, {'connected_gene': 'RNA5SP394', 'score': 0.19}]
chr15	GH15I050116	50116401	50116801	1.39	[{'connected_gene': 'ATP8B4', 'score': 18.6}, {'connected_gene': 'SLC27A2', 'score': 4.31}, {'connected_gene': 'GABPB1', 'score': 3.86}, {'connected_gene': 'USP8', 'score': 2.95}, {'connected_gene': 'HDC', 'score': 1.69}, {'connected_gene': 'GC15P050107', 'score': 0.44}, {'connected_gene': 'GC15P050155', 'score': 0.28}]
chr15	GH15I050076	50076572	50078056	0.4	[{'connected_gene': 'ATP8B4', 'score': 19.35}, {'connected_gene': 'SLC27A2', 'score': 5.81}, {'connected_gene': 'ENSG00000259715', 'score': 5.03}, {'connected_gene': 'GC15P050107', 'score': 0.29}, {'connected_gene': 'RNA5SP394', 'score': 0.16}]
chr15	GH15I050118	50118256	50120293	1.46	[{'connected_gene': 'ATP8B4', 'score': 555.02}, {'connected_gene': 'SLC27A2', 'score': 5.66}, {'connected_gene': 'GABPB1-AS1', 'score': 4.63}, {'connected_gene': 'GC15P050107', 'score': 0.39}, {'connected_gene': 'GC15P050155', 'score': 0.28}]
chr15	GH15I050133	50133402	50138945	1.65	[{'connected_gene': 'ATP8B4', 'score': 17.91}, {'connected_gene': 'GABPB1-AS1', 'score': 6.72}, {'connected_gene': 'SLC27A2', 'score': 4.83}, {'connected_gene': 'USP8', 'score': 4.07}, {'connected_gene': 'GABPB1', 'score': 1.73}, {'connected_gene': 'GC15P050155', 'score': 0.37}, {'connected_gene': 'GC15P050107', 'score': 0.31}]
chr15	GH15I050226	50226004	50226153	0.64	[{'connected_gene': 'HDC', 'score': 12.44}, {'connected_gene': 'SLC27A2', 'score': 11.36}, {'connected_gene': 'ENSG00000200605', 'score': 0.77}, {'connected_gene': 'GC15P050236', 'score': 0.39}, {'connected_gene': 'GC15P050155', 'score': 0.19}]
chr15	GH15I050259	50259380	50263074	1.3	[{'connected_gene': 'HDC', 'score': 21.98}, {'connected_gene': 'GABPB1-AS1', 'score': 19.06}, {'connected_gene': 'GABPB1-IT1', 'score': 18.54}, {'connected_gene': 'USP8', 'score': 16.18}, {'connected_gene': 'ENSG00000259715', 'score': 16.14}, {'connected_gene': 'ENSG00000259618', 'score': 13.6}, {'connected_gene': 'ENSG00000259298', 'score': 13.56}, {'connected_gene': 'AP4E1', 'score': 10.16}, {'connected_gene': 'RPS20P34', 'score': 9.71}, {'connected_gene': 'SLC27A2', 'score': 4.72}, {'connected_gene': 'ATP8B4', 'score': 3.53}, {'connected_gene': 'GABPB1', 'score': 3.51}, {'connected_gene': 'TRPM7', 'score': 2.73}, {'connected_gene': 'GC15M050253', 'score': 0.77}, {'connected_gene': 'GC15P050236', 'score': 0.31}, {'connected_gene': 'GC15P050155', 'score': 0.14}]
chr15	GH15I051108	51108484	51110692	0.66	[{'connected_gene': 'AP4E1', 'score': 6.55}, {'connected_gene': 'SLC27A2', 'score': 5.38}, {'connected_gene': 'MIR4713HG', 'score': 5.35}, {'connected_gene': 'TNFAIP8L3', 'score': 0.77}, {'connected_gene': 'MIR4713', 'score': 0.12}]
chr15	GH15I050181	50181640	50185611	2.24	[{'connected_gene': 'SLC27A2', 'score': 559.43}, {'connected_gene': 'ATP8B4', 'score': 550.77}, {'connected_gene': 'GABPB1-IT1', 'score': 20.91}, {'connected_gene': 'ENSG00000259715', 'score': 15.9}, {'connected_gene': 'ENSG00000259298', 'score': 15.83}, {'connected_gene': 'GABPB1-AS1', 'score': 15.43}, {'connected_gene': 'USP8', 'score': 14.77}, {'connected_gene': 'ENSG00000259618', 'score': 13.99}, {'connected_gene': 'TRPM7', 'score': 13.9}, {'connected_gene': 'RPS20P34', 'score': 13.22}, {'connected_gene': 'AP4E1', 'score': 11.33}, {'connected_gene': 'GC15P050186', 'score': 0.77}, {'connected_gene': 'GC15P050162', 'score': 0.34}, {'connected_gene': 'GC15P050155', 'score': 0.31}]
chr15	GH15I049899	49899556	49904548	0.89	[{'connected_gene': 'SLC27A2', 'score': 6.61}, {'connected_gene': 'ATP8B4', 'score': 6.28}, {'connected_gene': 'FAM227B', 'score': 5.55}, {'connected_gene': 'ENSG00000259715', 'score': 5.0}, {'connected_gene': 'GC15P049911', 'score': 0.44}, {'connected_gene': 'LOC102724587', 'score': 0.34}]
chr15	GH15I050209	50209819	50211535	0.73	[{'connected_gene': 'SLC27A2', 'score': 15.51}, {'connected_gene': 'GC15P050222', 'score': 0.39}, {'connected_gene': 'GC15P050186', 'score': 0.31}, {'connected_gene': 'GC15P050155', 'score': 0.22}]
chr15	GH15I051038	51038201	51038600	0.86	[{'connected_gene': 'MIR4713HG', 'score': 550.77}, {'connected_gene': 'AP4E1', 'score': 16.48}, {'connected_gene': 'SLC27A2', 'score': 4.93}, {'connected_gene': 'GC15M051009', 'score': 0.77}]
chr15	GH15I050390	50390602	50393221	0.74	[{'connected_gene': 'GABPB1-AS1', 'score': 20.45}, {'connected_gene': 'USP8', 'score': 12.67}, {'connected_gene': 'SLC27A2', 'score': 4.85}, {'connected_gene': 'GC15P050389', 'score': 0.77}, {'connected_gene': 'GC15P050365', 'score': 0.31}, {'connected_gene': 'AHCYP7', 'score': 0.31}, {'connected_gene': 'GC15P050155', 'score': 0.07}]
chr15	GH15I050349	50349120	50357417	2.32	[{'connected_gene': 'GABPB1-AS1', 'score': 657.88}, {'connected_gene': 'GC15P050351', 'score': 550.77}, {'connected_gene': 'GABPB1', 'score': 550.77}, {'connected_gene': 'ENSG00000259715', 'score': 90.42}, {'connected_gene': 'USP8', 'score': 51.27}, {'connected_gene': 'GABPB1-IT1', 'score': 37.57}, {'connected_gene': 'ENSG00000259298', 'score': 26.01}, {'connected_gene': 'ENSG00000259618', 'score': 20.38}, {'connected_gene': 'TRPM7', 'score': 13.97}, {'connected_gene': 'RPS20P34', 'score': 12.42}, {'connected_gene': 'HDC', 'score': 10.41}, {'connected_gene': 'DTWD1', 'score': 10.26}, {'connected_gene': 'USP50', 'score': 9.86}, {'connected_gene': 'SLC27A2', 'score': 7.34}, {'connected_gene': 'GC15P050305', 'score': 0.25}, {'connected_gene': 'GC15P050155', 'score': 0.08}]
chr15	GH15I050165	50165397	50167868	0.99	[{'connected_gene': 'GC15P050168', 'score': 550.77}, {'connected_gene': 'ATP8B4', 'score': 11.65}, {'connected_gene': 'SLC27A2', 'score': 10.28}, {'connected_gene': 'GABPB1-AS1', 'score': 4.49}, {'connected_gene': 'GC15P050162', 'score': 0.77}, {'connected_gene': 'GC15P050155', 'score': 0.39}]
chr15	GH15I050162	50162751	50164058	0.66	[{'connected_gene': 'GC15P050162', 'score': 550.77}, {'connected_gene': 'ATP8B4', 'score': 11.5}, {'connected_gene': 'GABPB1-AS1', 'score': 5.52}, {'connected_gene': 'ENSG00000259715', 'score': 5.0}, {'connected_gene': 'SLC27A2', 'score': 4.82}, {'connected_gene': 'GC15P050168', 'score': 0.77}, {'connected_gene': 'GC15P050155', 'score': 0.44}]
chr15	GH15I050316	50316184	50316313	0.62	[{'connected_gene': 'GC15P050317', 'score': 550.77}, {'connected_gene': 'HDC', 'score': 11.77}, {'connected_gene': 'GABPB1-AS1', 'score': 11.74}, {'connected_gene': 'SLC27A2', 'score': 11.66}, {'connected_gene': 'ATP8B4', 'score': 10.85}, {'connected_gene': 'GC15P050311', 'score': 0.44}, {'connected_gene': 'GC15P050305', 'score': 0.39}, {'connected_gene': 'GABPB1', 'score': 0.28}, {'connected_gene': 'GABPB1-IT1', 'score': 0.28}, {'connected_gene': 'GC15P050155', 'score': 0.1}]