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
ENST00000536782	[[12227059, 12227226], [12248852, 12248952], [12251013, 12251142], [12251830, 12251980], [12252404, 12252415]]	[[12227148, 12227226], [12248852, 12248952], [12251013, 12251142], [12251830, 12251980], [12252404, 12252415]]
ENST00000492361	[[12227059, 12227226], [12251013, 12251142], [12251830, 12251980], [12252487, 12252581], [12252919, 12253155], [12254011, 12254089], [12254640, 12254675], [12262023, 12262228], [12266796, 12269285]]	None
ENST00000376259	[[12227059, 12227226], [12248852, 12248952], [12251013, 12251142], [12251830, 12251980], [12252487, 12252581], [12252919, 12253155], [12254011, 12254089], [12254640, 12254675], [12262023, 12262228], [12266796, 12269285]]	[[12227148, 12227226], [12248852, 12248952], [12251013, 12251142], [12251830, 12251980], [12252487, 12252581], [12252919, 12253155], [12254011, 12254089], [12254640, 12254675], [12262023, 12262228], [12266796, 12267077]]
ENST00000489921	[[12251894, 12251980], [12252404, 12252581], [12252919, 12253065]]	None
NM_001066	[[12227059, 12227226], [12248852, 12248952], [12251013, 12251142], [12251830, 12251980], [12252487, 12252581], [12252919, 12253155], [12254011, 12254089], [12254640, 12254675], [12262023, 12262228], [12266796, 12269277]]	[[12227148, 12227226], [12248852, 12248952], [12251013, 12251142], [12251830, 12251980], [12252487, 12252581], [12252919, 12253155], [12254011, 12254089], [12254640, 12254675], [12262023, 12262228], [12266796, 12267077]]

Promoter

Chrom	Start	End	Description
chr1	12227035	12227058	CAGE_peak_1_at_TNFRSF1B_5end
chr1	12248850	12248869	CAGE_peak_2_at_TNFRSF1B_5end
chr1	12251915	12251946	CAGE_peak_3_at_TNFRSF1B_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I011978	11978437	11987026	2.78	[{'connected_gene': 'MFN2', 'score': 620.69}, {'connected_gene': 'ENSG00000226849', 'score': 21.95}, {'connected_gene': 'EXOSC10', 'score': 18.43}, {'connected_gene': 'MIIP', 'score': 18.04}, {'connected_gene': 'TNFRSF1B', 'score': 16.91}, {'connected_gene': 'PLOD1', 'score': 16.62}, {'connected_gene': 'CLCN6', 'score': 15.24}, {'connected_gene': 'TARDBP', 'score': 13.01}, {'connected_gene': 'KIAA2013', 'score': 11.56}, {'connected_gene': 'RNU5E-4P', 'score': 11.25}, {'connected_gene': 'RNU5E-1', 'score': 11.25}, {'connected_gene': 'NPPB', 'score': 10.29}, {'connected_gene': 'MTHFR', 'score': 7.41}, {'connected_gene': 'TNFRSF8', 'score': 6.4}, {'connected_gene': 'AGTRAP', 'score': 5.2}, {'connected_gene': 'FBXO6', 'score': 3.22}, {'connected_gene': 'ENSG00000270914', 'score': 0.29}]
chr1	GH01I012131	12131152	12134162	1.57	[{'connected_gene': 'TNFRSF1B', 'score': 11.05}, {'connected_gene': 'TNFRSF8', 'score': 6.69}, {'connected_gene': 'AGTRAP', 'score': 3.74}, {'connected_gene': 'MTHFR', 'score': 3.24}, {'connected_gene': 'CLCN6', 'score': 2.09}, {'connected_gene': 'MIR7846', 'score': 0.29}, {'connected_gene': 'RPL23AP89', 'score': 0.23}]
chr1	GH01I012182	12182402	12187822	1.51	[{'connected_gene': 'TNFRSF1B', 'score': 14.39}, {'connected_gene': 'VPS13D', 'score': 12.68}, {'connected_gene': 'TNFRSF8', 'score': 8.6}, {'connected_gene': 'AGTRAP', 'score': 6.41}, {'connected_gene': 'MTHFR', 'score': 5.95}, {'connected_gene': 'CLCN6', 'score': 3.18}, {'connected_gene': 'MIR4632', 'score': 0.44}]
chr1	GH01I012193	12193374	12195984	0.54	[{'connected_gene': 'TNFRSF1B', 'score': 12.39}, {'connected_gene': 'VPS13D', 'score': 11.61}, {'connected_gene': 'MIR4632', 'score': 0.77}, {'connected_gene': 'GC01P012204', 'score': 0.39}]
chr1	GH01I012188	12188184	12188333	0.72	[{'connected_gene': 'TNFRSF1B', 'score': 12.42}, {'connected_gene': 'VPS13D', 'score': 11.59}, {'connected_gene': 'MIR4632', 'score': 0.77}]
chr1	GH01I012156	12156985	12164264	1.79	[{'connected_gene': 'TNFRSF1B', 'score': 35.67}, {'connected_gene': 'MTHFR', 'score': 10.03}, {'connected_gene': 'TNFRSF8', 'score': 8.29}, {'connected_gene': 'CLCN6', 'score': 7.03}, {'connected_gene': 'AGTRAP', 'score': 5.6}, {'connected_gene': 'FBXO6', 'score': 2.41}, {'connected_gene': 'MFN2', 'score': 1.87}, {'connected_gene': 'MIR7846', 'score': 0.44}, {'connected_gene': 'RPL23AP89', 'score': 0.18}]
chr1	GH01I012140	12140104	12154599	1.73	[{'connected_gene': 'TNFRSF1B', 'score': 24.03}, {'connected_gene': 'MTHFR', 'score': 9.71}, {'connected_gene': 'TNFRSF8', 'score': 7.53}, {'connected_gene': 'CLCN6', 'score': 7.18}, {'connected_gene': 'AGTRAP', 'score': 4.94}, {'connected_gene': 'NPPA-AS1', 'score': 4.65}, {'connected_gene': 'FBXO6', 'score': 2.13}, {'connected_gene': 'MFN2', 'score': 1.71}, {'connected_gene': 'MIR7846', 'score': 0.37}, {'connected_gene': 'RPL23AP89', 'score': 0.2}]
chr1	GH01I012166	12166617	12182213	2.58	[{'connected_gene': 'TNFRSF1B', 'score': 571.23}, {'connected_gene': 'MTHFR', 'score': 22.31}, {'connected_gene': 'TNFRSF8', 'score': 16.19}, {'connected_gene': 'CLCN6', 'score': 14.8}, {'connected_gene': 'VPS13D', 'score': 14.44}, {'connected_gene': 'AGTRAP', 'score': 6.79}, {'connected_gene': 'MIIP', 'score': 1.65}, {'connected_gene': 'MFN2', 'score': 1.31}, {'connected_gene': 'MIR7846', 'score': 0.44}, {'connected_gene': 'MIR4632', 'score': 0.37}]
chr1	GH01I011738	11738861	11739064	0.83	[{'connected_gene': 'TNFRSF1B', 'score': 14.74}, {'connected_gene': 'MAD2L2', 'score': 12.04}, {'connected_gene': 'DRAXIN', 'score': 12.02}, {'connected_gene': 'C1orf127', 'score': 9.14}, {'connected_gene': 'MTHFR', 'score': 5.44}, {'connected_gene': 'CLCN6', 'score': 5.44}, {'connected_gene': 'FBXO6', 'score': 4.42}, {'connected_gene': 'AGTRAP', 'score': 3.18}, {'connected_gene': 'TNFRSF8', 'score': 2.54}, {'connected_gene': 'MFN2', 'score': 1.81}, {'connected_gene': 'GC01P011758', 'score': 0.37}]
chr1	GH01I012165	12165339	12165661	0.94	[{'connected_gene': 'TNFRSF1B', 'score': 568.88}, {'connected_gene': 'MIR7846', 'score': 550.77}, {'connected_gene': 'MTHFR', 'score': 10.19}, {'connected_gene': 'CLCN6', 'score': 8.46}, {'connected_gene': 'TNFRSF8', 'score': 3.98}, {'connected_gene': 'AGTRAP', 'score': 3.56}, {'connected_gene': 'MFN2', 'score': 1.42}, {'connected_gene': 'RPL23AP89', 'score': 0.18}]
chr1	GH01I011735	11735202	11738570	2.53	[{'connected_gene': 'AGTRAP', 'score': 570.93}, {'connected_gene': 'TARDBP', 'score': 19.36}, {'connected_gene': 'TNFRSF1B', 'score': 14.62}, {'connected_gene': 'ENSG00000226849', 'score': 12.73}, {'connected_gene': 'MAD2L2', 'score': 12.04}, {'connected_gene': 'DRAXIN', 'score': 12.02}, {'connected_gene': 'EXOSC10', 'score': 11.55}, {'connected_gene': 'C1orf127', 'score': 9.14}, {'connected_gene': 'MTHFR', 'score': 4.68}, {'connected_gene': 'CLCN6', 'score': 4.13}, {'connected_gene': 'TNFRSF8', 'score': 2.69}, {'connected_gene': 'FBXO6', 'score': 2.63}, {'connected_gene': 'MFN2', 'score': 1.62}, {'connected_gene': 'GC01P011758', 'score': 0.37}]
chr1	GH01I011689	11689322	11694020	2.09	[{'connected_gene': 'MAD2L2', 'score': 557.78}, {'connected_gene': 'DRAXIN', 'score': 550.44}, {'connected_gene': 'FBXO2', 'score': 5.73}, {'connected_gene': 'MTHFR', 'score': 3.1}, {'connected_gene': 'CLCN6', 'score': 2.96}, {'connected_gene': 'TNFRSF1B', 'score': 2.67}]
chr1	GH01I012190	12190412	12192274	0.59	[{'connected_gene': 'MIR4632', 'score': 550.77}, {'connected_gene': 'TNFRSF1B', 'score': 12.42}, {'connected_gene': 'VPS13D', 'score': 11.61}]
chr1	GH01I012200	12200930	12205130	1.06	[{'connected_gene': 'GC01P012204', 'score': 550.77}, {'connected_gene': 'FBXO44', 'score': 5.75}, {'connected_gene': 'MIR4632', 'score': 0.39}, {'connected_gene': 'TNFRSF1B', 'score': 0.28}]
chr1	GH01I012208	12208317	12209912	1.27	[{'connected_gene': 'GC01P012204', 'score': 0.77}, {'connected_gene': 'RPL10P17', 'score': 0.39}, {'connected_gene': 'TNFRSF1B', 'score': 0.26}]
chr1	GH01I012198	12198370	12198693	0.46	[{'connected_gene': 'GC01P012204', 'score': 0.44}, {'connected_gene': 'MIR4632', 'score': 0.44}, {'connected_gene': 'TNFRSF1B', 'score': 0.29}]
chr1	GH01I012196	12196744	12196893	0.79	[{'connected_gene': 'GC01P012204', 'score': 0.44}, {'connected_gene': 'MIR4632', 'score': 0.44}, {'connected_gene': 'TNFRSF1B', 'score': 0.31}]
chr1	GH01I012199	12199308	12199928	0.76	[{'connected_gene': 'GC01P012204', 'score': 0.44}, {'connected_gene': 'MIR4632', 'score': 0.44}, {'connected_gene': 'TNFRSF1B', 'score': 0.29}]