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
ENST00000340250	[[5632438, 5632695], [5632758, 5633399], [5642887, 5643044], [5643126, 5643248], [5643493, 5643661], [5644902, 5646279]]	[[5632567, 5632695], [5632758, 5633399], [5642887, 5643044], [5643126, 5643248], [5643493, 5643661], [5644902, 5645105]]
ENST00000382361	[[5632453, 5633399], [5642887, 5643044], [5643126, 5643248], [5643493, 5643661], [5644902, 5646286]]	[[5632567, 5633399], [5642887, 5643044], [5643126, 5643248], [5643493, 5643661], [5644902, 5645105]]
ENST00000444748	[[5633478, 5633658], [5642887, 5643044], [5643126, 5643248], [5643493, 5643614]]	[[5642889, 5643044], [5643126, 5643248], [5643493, 5643614]]
ENST00000447103	[[5634177, 5634527], [5642887, 5643044], [5643126, 5643248], [5643493, 5643577]]	[[5642889, 5643044], [5643126, 5643248], [5643493, 5643577]]
ENST00000405801	[[5634316, 5634451], [5642887, 5643044], [5643126, 5643248], [5643493, 5643629]]	[[5642889, 5643044], [5643126, 5643248], [5643493, 5643629]]
ENST00000473330	[[5642502, 5643044], [5643126, 5643248], [5643493, 5643661], [5644902, 5646285]]	None
NM_003088	[[5632435, 5633399], [5642887, 5643044], [5643126, 5643248], [5643493, 5643661], [5644902, 5646287]]	[[5632567, 5633399], [5642887, 5643044], [5643126, 5643248], [5643493, 5643661], [5644902, 5645105]]

Promoter

Chrom	Start	End	Description
chr7	5632436	5632454	CAGE_peak_1_at_FSCN1_5end
chr7	5633077	5633093	CAGE_peak_5_at_FSCN1_5end
chr7	5643546	5643561	CAGE_peak_2_at_FSCN1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr7	GH07I005687	5687202	5702250	1.65	[{'connected_gene': 'USP42', 'score': 22.7}, {'connected_gene': 'RNF216P1', 'score': 19.36}, {'connected_gene': 'C7orf26', 'score': 14.82}, {'connected_gene': 'ACTB', 'score': 13.7}, {'connected_gene': 'ZNF316', 'score': 12.72}, {'connected_gene': 'RBAK', 'score': 12.71}, {'connected_gene': 'FBXL18', 'score': 12.41}, {'connected_gene': 'MIR589', 'score': 12.4}, {'connected_gene': 'FSCN1', 'score': 12.22}, {'connected_gene': 'ENSG00000188365', 'score': 12.2}, {'connected_gene': 'RNF216', 'score': 11.91}, {'connected_gene': 'AP5Z1', 'score': 11.1}, {'connected_gene': 'TNRC18', 'score': 10.77}, {'connected_gene': 'ENSG00000241269', 'score': 10.18}, {'connected_gene': 'WIPI2', 'score': 5.51}, {'connected_gene': 'CCZ1', 'score': 2.17}, {'connected_gene': 'RNF216-IT1', 'score': 0.39}, {'connected_gene': 'MIR6874', 'score': 0.37}]
chr7	GH07I005702	5702661	5705219	1.23	[{'connected_gene': 'FBXL18', 'score': 12.68}, {'connected_gene': 'MIR589', 'score': 12.67}, {'connected_gene': 'ACTB', 'score': 12.64}, {'connected_gene': 'FSCN1', 'score': 12.2}, {'connected_gene': 'MIR6874', 'score': 0.44}, {'connected_gene': 'RNF216-IT1', 'score': 0.34}, {'connected_gene': 'RNF216', 'score': 0.18}]
chr7	GH07I005584	5584970	5585119	0.76	[{'connected_gene': 'FBXL18', 'score': 12.44}, {'connected_gene': 'MIR589', 'score': 11.96}, {'connected_gene': 'PIR61286', 'score': 0.77}, {'connected_gene': 'FSCN1', 'score': 0.44}]
chr7	GH07I005632	5632287	5640317	1.6	[{'connected_gene': 'ACTB', 'score': 12.51}, {'connected_gene': 'FBXL18', 'score': 12.2}, {'connected_gene': 'MIR589', 'score': 11.94}, {'connected_gene': 'C7orf26', 'score': 11.28}, {'connected_gene': 'USP42', 'score': 10.7}, {'connected_gene': 'ANKRD61', 'score': 10.35}, {'connected_gene': 'ZNF815P', 'score': 5.89}, {'connected_gene': 'EIF2AK1', 'score': 5.4}, {'connected_gene': 'FSCN1', 'score': 0.26}, {'connected_gene': 'RNF216-IT1', 'score': 0.26}, {'connected_gene': 'RNF216', 'score': 0.11}]
chr7	GH07I005666	5666781	5668138	1.02	[{'connected_gene': 'ACTB', 'score': 12.95}, {'connected_gene': 'FBXL18', 'score': 12.15}, {'connected_gene': 'MIR589', 'score': 12.14}, {'connected_gene': 'FSCN1', 'score': 12.04}, {'connected_gene': 'TNRC18', 'score': 10.7}, {'connected_gene': 'LOC100129484', 'score': 10.69}, {'connected_gene': 'RNF216-IT1', 'score': 0.39}, {'connected_gene': 'RNF216', 'score': 0.14}]
chr7	GH07I005667	5666610	5666759	0.2	[{'connected_gene': 'ACTB', 'score': 12.95}, {'connected_gene': 'FBXL18', 'score': 12.15}, {'connected_gene': 'MIR589', 'score': 12.14}, {'connected_gene': 'FSCN1', 'score': 12.04}, {'connected_gene': 'TNRC18', 'score': 10.7}, {'connected_gene': 'LOC100129484', 'score': 10.69}, {'connected_gene': 'RNF216-IT1', 'score': 0.39}, {'connected_gene': 'RNF216', 'score': 0.13}]
chr7	GH07I005686	5686222	5687180	0.2	[{'connected_gene': 'ACTB', 'score': 12.44}, {'connected_gene': 'FBXL18', 'score': 12.33}, {'connected_gene': 'MIR589', 'score': 12.32}, {'connected_gene': 'FSCN1', 'score': 11.82}, {'connected_gene': 'ZNF890P', 'score': 5.11}, {'connected_gene': 'RNF216-IT1', 'score': 0.44}, {'connected_gene': 'MIR6874', 'score': 0.31}, {'connected_gene': 'RNF216', 'score': 0.15}]
chr7	GH07I005561	5561546	5564149	1.75	[{'connected_gene': 'ACTB', 'score': 550.77}, {'connected_gene': 'FBXL18', 'score': 12.54}, {'connected_gene': 'MIR589', 'score': 12.5}, {'connected_gene': 'FSCN1', 'score': 11.7}, {'connected_gene': 'LOC100288712', 'score': 0.77}]
chr7	GH07I005629	5629570	5631529	0.78	[{'connected_gene': 'ACTB', 'score': 12.52}, {'connected_gene': 'FBXL18', 'score': 12.2}, {'connected_gene': 'EIF2AK1', 'score': 5.4}, {'connected_gene': 'FSCN1', 'score': 0.28}, {'connected_gene': 'RNF216-IT1', 'score': 0.25}, {'connected_gene': 'RNF216', 'score': 0.1}]
chr7	GH07I005619	5619834	5621668	0.58	[{'connected_gene': 'ACTB', 'score': 12.42}, {'connected_gene': 'FBXL18', 'score': 12.04}, {'connected_gene': 'EIF2AK1', 'score': 5.4}, {'connected_gene': 'RNF216', 'score': 4.64}, {'connected_gene': 'FSCN1', 'score': 0.31}, {'connected_gene': 'RNF216-IT1', 'score': 0.22}]
chr7	GH07I005665	5665201	5665800	1.09	[{'connected_gene': 'ACTB', 'score': 13.04}, {'connected_gene': 'FSCN1', 'score': 12.63}, {'connected_gene': 'FBXL18', 'score': 12.22}, {'connected_gene': 'MIR589', 'score': 12.21}, {'connected_gene': 'TNRC18', 'score': 10.79}, {'connected_gene': 'LOC100129484', 'score': 10.7}, {'connected_gene': 'RNF216-IT1', 'score': 0.39}, {'connected_gene': 'RNF216', 'score': 0.13}]
chr7	GH07I005661	5661368	5663168	0.94	[{'connected_gene': 'ACTB', 'score': 13.04}, {'connected_gene': 'FSCN1', 'score': 12.64}, {'connected_gene': 'FBXL18', 'score': 12.22}, {'connected_gene': 'OCM', 'score': 5.63}, {'connected_gene': 'RNF216-IT1', 'score': 0.37}, {'connected_gene': 'RNF216', 'score': 0.13}]
chr7	GH07I005591	5591150	5599755	2.61	[{'connected_gene': 'FSCN1', 'score': 553.49}, {'connected_gene': 'C7orf26', 'score': 43.81}, {'connected_gene': 'AP5Z1', 'score': 30.14}, {'connected_gene': 'USP42', 'score': 25.61}, {'connected_gene': 'TNRC18', 'score': 22.86}, {'connected_gene': 'ANKRD61', 'score': 14.54}, {'connected_gene': 'CCZ1', 'score': 13.03}, {'connected_gene': 'RNF216P1', 'score': 9.97}, {'connected_gene': 'RBAK', 'score': 9.93}, {'connected_gene': 'RNF216', 'score': 9.9}, {'connected_gene': 'ACTB', 'score': 2.73}, {'connected_gene': 'FBXL18', 'score': 1.62}, {'connected_gene': 'AIMP2', 'score': 1.34}, {'connected_gene': 'RNF216-IT1', 'score': 0.17}]
chr7	GH07I005624	5624841	5627126	0.85	[{'connected_gene': 'FSCN1', 'score': 12.22}, {'connected_gene': 'ACTB', 'score': 12.07}, {'connected_gene': 'ZNF815P', 'score': 5.07}, {'connected_gene': 'RNF216-IT1', 'score': 0.23}, {'connected_gene': 'RNF216', 'score': 0.1}]
chr7	GH07I005602	5602874	5604216	0.56	[{'connected_gene': 'RNF216', 'score': 5.52}, {'connected_gene': 'FSCN1', 'score': 0.39}, {'connected_gene': 'RNF216-IT1', 'score': 0.18}]
chr7	GH07I005669	5669401	5673569	1.27	[{'connected_gene': 'RNF216', 'score': 5.96}, {'connected_gene': 'ZNF890P', 'score': 5.11}, {'connected_gene': 'USP42', 'score': 3.94}, {'connected_gene': 'TNRC18', 'score': 1.96}, {'connected_gene': 'FBXL18', 'score': 1.25}, {'connected_gene': 'EIF2AK1', 'score': 1.13}, {'connected_gene': 'WIPI2', 'score': 1.11}, {'connected_gene': 'RNF216-IT1', 'score': 0.44}, {'connected_gene': 'FSCN1', 'score': 0.18}]
chr7	GH07I005772	5772401	5775343	1.06	[{'connected_gene': 'RNF216P1', 'score': 19.3}, {'connected_gene': 'ZNF12', 'score': 13.47}, {'connected_gene': 'RBAK', 'score': 12.71}, {'connected_gene': 'USP42', 'score': 10.35}, {'connected_gene': 'FSCN1', 'score': 9.79}, {'connected_gene': 'WIPI2', 'score': 9.72}, {'connected_gene': 'RNF216', 'score': 7.84}, {'connected_gene': 'PIR40049', 'score': 0.34}]
chr7	GH07I005412	5411601	5411800	0.66	[{'connected_gene': 'RNF216P1', 'score': 10.59}, {'connected_gene': 'FSCN1', 'score': 9.79}, {'connected_gene': 'WIPI2', 'score': 9.76}, {'connected_gene': 'ENSG00000241269', 'score': 0.44}, {'connected_gene': 'TNRC18', 'score': 0.39}, {'connected_gene': 'GC07P005375', 'score': 0.28}]
chr7	GH07I005609	5609372	5610407	1	[{'connected_gene': 'ZNF815P', 'score': 4.53}, {'connected_gene': 'FSCN1', 'score': 0.37}, {'connected_gene': 'RNF216-IT1', 'score': 0.19}]
chr7	GH07I005653	5653473	5654453	0.2	[{'connected_gene': 'ZNF815P', 'score': 4.61}, {'connected_gene': 'RNF216-IT1', 'score': 0.31}, {'connected_gene': 'FSCN1', 'score': 0.21}, {'connected_gene': 'RNF216', 'score': 0.13}]
chr7	GH07I005641	5641083	5644178	1.04	[{'connected_gene': 'ZNF815P', 'score': 5.87}, {'connected_gene': 'RNF216-IT1', 'score': 0.28}, {'connected_gene': 'FSCN1', 'score': 0.25}, {'connected_gene': 'RNF216', 'score': 0.12}]
chr7	GH07I005606	5606847	5609077	0.88	[{'connected_gene': 'EIF2AK1', 'score': 5.41}, {'connected_gene': 'FSCN1', 'score': 0.37}, {'connected_gene': 'RNF216-IT1', 'score': 0.19}]
chr7	GH07I005658	5658744	5660008	0.2	[{'connected_gene': 'EIF2AK1', 'score': 4.68}, {'connected_gene': 'RNF216-IT1', 'score': 0.34}, {'connected_gene': 'FSCN1', 'score': 0.2}, {'connected_gene': 'RNF216', 'score': 0.13}]
chr7	GH07I005646	5646155	5648038	0.51	[{'connected_gene': 'EIF2AK1', 'score': 5.17}, {'connected_gene': 'RNF216-IT1', 'score': 0.29}, {'connected_gene': 'FSCN1', 'score': 0.23}, {'connected_gene': 'RNF216', 'score': 0.12}]
chr7	GH07I004681	4681383	4685761	2.24	[{'connected_gene': 'FOXK1', 'score': 561.27}, {'connected_gene': 'TNRC18', 'score': 44.82}, {'connected_gene': 'RBAK', 'score': 43.77}, {'connected_gene': 'RNF216P1', 'score': 32.08}, {'connected_gene': 'AP5Z1', 'score': 12.69}, {'connected_gene': 'ENSG00000188365', 'score': 12.25}, {'connected_gene': 'FSCN1', 'score': 9.72}, {'connected_gene': 'WIPI2', 'score': 9.72}, {'connected_gene': 'SNORD13P2', 'score': 0.44}, {'connected_gene': 'GC07M004681', 'score': 0.29}]
chr7	GH07I005676	5676377	5682919	1.42	[{'connected_gene': 'RNF216-IT1', 'score': 550.77}, {'connected_gene': 'ACTB', 'score': 12.61}, {'connected_gene': 'FBXL18', 'score': 12.25}, {'connected_gene': 'FSCN1', 'score': 12.18}, {'connected_gene': 'MIR589', 'score': 11.65}, {'connected_gene': 'ZNF815P', 'score': 4.47}, {'connected_gene': 'USP42', 'score': 1.55}, {'connected_gene': 'RNF216', 'score': 0.15}]
chr7	GH07I005659	5658090	5658239	0.51	[{'connected_gene': 'RNF216-IT1', 'score': 0.34}, {'connected_gene': 'FSCN1', 'score': 0.2}, {'connected_gene': 'RNF216', 'score': 0.13}]
chr7	GH07I005655	5655001	5655600	0.4	[{'connected_gene': 'RNF216-IT1', 'score': 0.31}, {'connected_gene': 'FSCN1', 'score': 0.21}, {'connected_gene': 'RNF216', 'score': 0.13}]
chr7	GH07I005652	5652070	5653014	0.2	[{'connected_gene': 'RNF216-IT1', 'score': 0.31}, {'connected_gene': 'FSCN1', 'score': 0.22}, {'connected_gene': 'RNF216', 'score': 0.13}]
chr7	GH07I005668	5668599	5668747	0.4	[{'connected_gene': 'RNF216-IT1', 'score': 0.39}, {'connected_gene': 'FSCN1', 'score': 0.18}, {'connected_gene': 'RNF216', 'score': 0.14}]
chr7	GH07I005569	5569075	5571000	1.66	[{'connected_gene': 'ANKRD61', 'score': 19.94}, {'connected_gene': 'USP42', 'score': 18.81}, {'connected_gene': 'RNF216', 'score': 10.82}, {'connected_gene': 'FSCN1', 'score': 2.24}, {'connected_gene': 'SLC29A4', 'score': 2.09}, {'connected_gene': 'FBXL18', 'score': 1.91}, {'connected_gene': 'TNRC18', 'score': 1.22}, {'connected_gene': 'ACTB', 'score': 0.44}, {'connected_gene': 'PIR61286', 'score': 0.39}]