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
ENST00000234590	[[8921060, 8921488], [8922945, 8923004], [8923293, 8923402], [8923949, 8924151], [8925343, 8925541], [8926337, 8926560], [8927175, 8927309], [8928046, 8928116], [8930510, 8930569], [8931949, 8932045], [8934882, 8934976], [8938638, 8938749]]	[[8921418, 8921488], [8922945, 8923004], [8923293, 8923402], [8923949, 8924151], [8925343, 8925541], [8926337, 8926560], [8927175, 8927309], [8928046, 8928116], [8930510, 8930569], [8931949, 8932045], [8934882, 8934967]]
ENST00000464920	[[8921063, 8921488], [8922945, 8923004], [8923293, 8923402], [8923949, 8924151], [8925343, 8925541], [8926337, 8926560], [8927175, 8927309], [8928046, 8928116], [8930510, 8931356]]	None
ENST00000497492	[[8926419, 8926560], [8927175, 8927309], [8928046, 8928116], [8930510, 8930569], [8931949, 8932045], [8934882, 8934976], [8938273, 8938326]]	[[8926419, 8926560], [8927175, 8927309], [8928046, 8928116], [8930510, 8930569], [8931949, 8932045], [8934882, 8934967]]
ENST00000486051	[[8930230, 8930467], [8931949, 8932045], [8934882, 8934976], [8938638, 8938747]]	None
ENST00000492343	[[8931410, 8932045], [8934882, 8934976], [8938638, 8938735]]	None
ENST00000489867	[[8934914, 8934976], [8938638, 8939308]]	[[8934914, 8934967]]
NM_001201483	[[8921058, 8921488], [8922945, 8923004], [8923293, 8923402], [8923949, 8924151], [8925343, 8925541], [8926337, 8926560], [8927175, 8927309], [8928046, 8928116], [8930510, 8931635]]	[[8921418, 8921488], [8922945, 8923004], [8923293, 8923402], [8923949, 8924151], [8925343, 8925541], [8926337, 8926560], [8927175, 8927309], [8928046, 8928077]]
NM_001428	[[8921058, 8921488], [8922945, 8923004], [8923293, 8923402], [8923949, 8924151], [8925343, 8925541], [8926337, 8926560], [8927175, 8927309], [8928046, 8928116], [8930510, 8930569], [8931949, 8932045], [8934882, 8934976], [8938638, 8939151]]	[[8921418, 8921488], [8922945, 8923004], [8923293, 8923402], [8923949, 8924151], [8925343, 8925541], [8926337, 8926560], [8927175, 8927309], [8928046, 8928116], [8930510, 8930569], [8931949, 8932045], [8934882, 8934967]]

Promoter

Chrom	Start	End	Description
chr1	8923998	8924033	CAGE_peak_8_at_ENO1_5end
chr1	8924055	8924074	CAGE_peak_9_at_ENO1_5end
chr1	8926369	8926385	CAGE_peak_12_at_ENO1_5end
chr1	8926441	8926473	CAGE_peak_10_at_ENO1_5end
chr1	8934931	8934947	CAGE_peak_4_at_ENO1_5end
chr1	8935427	8935438	CAGE_peak_28_at_ENO1_5end
chr1	8935456	8935467	CAGE_peak_27_at_ENO1_5end
chr1	8935472	8935488	CAGE_peak_20_at_ENO1_5end
chr1	8938709	8938720	CAGE_peak_3_at_ENO1_5end
chr1	8938736	8938756	CAGE_peak_1_at_ENO1_5end
chr1	8938766	8938774	CAGE_peak_2_at_ENO1_5end
chr1	8939213	8939223	CAGE_peak_33_at_ENO1_5end
chr1	8939229	8939249	CAGE_peak_21_at_ENO1_5end
chr1	8939265	8939367	CAGE_peak_5_at_ENO1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I008901	8901287	8902147	0.2	[{'connected_gene': 'GPR157', 'score': 10.32}, {'connected_gene': 'ENO1', 'score': 9.66}, {'connected_gene': 'ENSG00000221083', 'score': 8.69}, {'connected_gene': 'RERE', 'score': 5.08}, {'connected_gene': 'HMGN2P17', 'score': 0.44}, {'connected_gene': 'ENSG00000232208', 'score': 0.44}]
chr1	GH01I008902	8902401	8904846	1.49	[{'connected_gene': 'GPR157', 'score': 10.32}, {'connected_gene': 'ENSG00000221083', 'score': 8.69}, {'connected_gene': 'ENO1', 'score': 7.45}, {'connected_gene': 'ENSG00000232208', 'score': 0.77}, {'connected_gene': 'HMGN2P17', 'score': 0.39}]
chr1	GH01I008707	8707000	8707800	1.12	[{'connected_gene': 'RERE', 'score': 11.27}, {'connected_gene': 'ENSG00000221083', 'score': 10.42}, {'connected_gene': 'ENO1', 'score': 8.32}, {'connected_gene': 'LOC102724552', 'score': 5.07}, {'connected_gene': 'RPL7P11', 'score': 0.26}, {'connected_gene': 'ENSG00000270282', 'score': 0.08}]
chr1	GH01I008659	8659202	8665668	1.63	[{'connected_gene': 'RERE', 'score': 21.32}, {'connected_gene': 'ENSG00000221083', 'score': 9.63}, {'connected_gene': 'ENO1', 'score': 8.33}, {'connected_gene': 'RPL7P11', 'score': 0.17}, {'connected_gene': 'ENSG00000270282', 'score': 0.11}]
chr1	GH01I008625	8625443	8628044	1.69	[{'connected_gene': 'RERE', 'score': 11.04}, {'connected_gene': 'ENSG00000221083', 'score': 9.78}, {'connected_gene': 'ENO1', 'score': 8.01}, {'connected_gene': 'ENSG00000270282', 'score': 0.14}, {'connected_gene': 'RPL7P11', 'score': 0.13}]
chr1	GH01I008678	8678993	8681844	1.24	[{'connected_gene': 'RERE', 'score': 18.26}, {'connected_gene': 'ENO1', 'score': 8.26}, {'connected_gene': 'RPL7P11', 'score': 0.2}, {'connected_gene': 'ENSG00000270282', 'score': 0.1}]
chr1	GH01I008812	8812786	8819426	2.26	[{'connected_gene': 'RERE', 'score': 557.18}, {'connected_gene': 'ENO1', 'score': 8.03}, {'connected_gene': 'ENSG00000228423', 'score': 0.44}]
chr1	GH01I008454	8454983	8458199	1.02	[{'connected_gene': 'RERE', 'score': 15.22}, {'connected_gene': 'ENSG00000221083', 'score': 11.22}, {'connected_gene': 'LOC102724552', 'score': 11.2}, {'connected_gene': 'ENO1', 'score': 8.39}, {'connected_gene': 'PIR35776', 'score': 0.39}, {'connected_gene': 'GC01M008444', 'score': 0.39}, {'connected_gene': 'GC01M008496', 'score': 0.26}]
chr1	GH01I008401	8401441	8403629	0.2	[{'connected_gene': 'RERE', 'score': 31.59}, {'connected_gene': 'LOC102724552', 'score': 12.03}, {'connected_gene': 'ENSG00000221083', 'score': 9.97}, {'connected_gene': 'ENO1', 'score': 9.42}, {'connected_gene': 'PIR31362', 'score': 0.25}]
chr1	GH01I008825	8825712	8826742	0.46	[{'connected_gene': 'ENO1', 'score': 9.88}, {'connected_gene': 'GPR157', 'score': 9.81}, {'connected_gene': 'ENSG00000221083', 'score': 9.2}, {'connected_gene': 'RPL23AP19', 'score': 0.77}, {'connected_gene': 'RERE', 'score': 0.44}]
chr1	GH01I008918	8918001	8918600	0.95	[{'connected_gene': 'ENO1', 'score': 6.66}, {'connected_gene': 'ENSG00000232663', 'score': 0.44}, {'connected_gene': 'CA6', 'score': 0.31}]
chr1	GH01I008649	8649162	8649311	0.69	[{'connected_gene': 'ENO1', 'score': 8.35}, {'connected_gene': 'RERE', 'score': 5.59}, {'connected_gene': 'RPL7P11', 'score': 0.15}, {'connected_gene': 'ENSG00000270282', 'score': 0.12}]
chr1	GH01I008505	8505777	8507336	0.38	[{'connected_gene': 'ENO1', 'score': 7.78}, {'connected_gene': 'GC01P008503', 'score': 0.77}, {'connected_gene': 'ENSG00000221083', 'score': 0.44}, {'connected_gene': 'GC01M008511', 'score': 0.44}, {'connected_gene': 'RERE', 'score': 0.06}]
chr1	GH01I008869	8869872	8881708	2.65	[{'connected_gene': 'ENO1', 'score': 571.67}, {'connected_gene': 'LOC102724552', 'score': 36.56}, {'connected_gene': 'MIR34AHG', 'score': 19.43}, {'connected_gene': 'RERE', 'score': 14.91}, {'connected_gene': 'GPR157', 'score': 14.47}, {'connected_gene': 'CLSTN1', 'score': 12.12}, {'connected_gene': 'PIK3CD-AS2', 'score': 11.57}, {'connected_gene': 'SLC45A1', 'score': 9.89}, {'connected_gene': 'H6PD', 'score': 4.57}, {'connected_gene': 'ENO1-AS1', 'score': 0.77}, {'connected_gene': 'ENO1-IT1', 'score': 0.77}, {'connected_gene': 'MIR6728', 'score': 0.44}]
chr1	GH01I008562	8562433	8564750	1.08	[{'connected_gene': 'ENO1', 'score': 7.99}, {'connected_gene': 'LOC102724552', 'score': 5.17}, {'connected_gene': 'ENSG00000270282', 'score': 0.23}, {'connected_gene': 'RPL7P11', 'score': 0.09}, {'connected_gene': 'RERE', 'score': 0.07}]
chr1	GH01I008522	8522964	8528000	1.92	[{'connected_gene': 'ENO1', 'score': 8.54}, {'connected_gene': 'LOC102724552', 'score': 4.76}, {'connected_gene': 'ENSG00000270282', 'score': 0.39}, {'connected_gene': 'RPL7P11', 'score': 0.07}, {'connected_gene': 'RERE', 'score': 0.06}]
chr1	GH01I008889	8889077	8891153	1.12	[{'connected_gene': 'ENO1', 'score': 10.67}, {'connected_gene': 'LOC102724552', 'score': 6.07}, {'connected_gene': 'HMGN2P17', 'score': 0.77}, {'connected_gene': 'GC01P008884', 'score': 0.44}]
chr1	GH01I008853	8853876	8855207	0.68	[{'connected_gene': 'ENO1', 'score': 19.05}, {'connected_gene': 'MIR6728', 'score': 0.39}, {'connected_gene': 'RPL23AP19', 'score': 0.34}]
chr1	GH01I008856	8856371	8859711	1.37	[{'connected_gene': 'ENO1', 'score': 34.11}, {'connected_gene': 'ENO1-AS1', 'score': 14.3}, {'connected_gene': 'RNU6-304P', 'score': 12.07}, {'connected_gene': 'LOC102724552', 'score': 10.92}, {'connected_gene': 'RERE', 'score': 5.84}, {'connected_gene': 'MIR6728', 'score': 0.44}, {'connected_gene': 'RPL23AP19', 'score': 0.31}]
chr1	GH01I008621	8621601	8622400	0.84	[{'connected_gene': 'ENO1', 'score': 4.56}, {'connected_gene': 'ENSG00000270282', 'score': 0.14}, {'connected_gene': 'RPL7P11', 'score': 0.13}, {'connected_gene': 'RERE', 'score': 0.08}]
chr1	GH01I008836	8836132	8836951	0.38	[{'connected_gene': 'ENO1', 'score': 13.12}, {'connected_gene': 'RPL23AP19', 'score': 0.44}, {'connected_gene': 'MIR6728', 'score': 0.29}]
chr1	GH01I008847	8847454	8849571	1.37	[{'connected_gene': 'ENO1', 'score': 15.08}, {'connected_gene': 'RPL23AP19', 'score': 0.37}, {'connected_gene': 'MIR6728', 'score': 0.37}]
chr1	GH01I008860	8860089	8862282	0.64	[{'connected_gene': 'RNU6-304P', 'score': 11.63}, {'connected_gene': 'LOC102724552', 'score': 4.51}, {'connected_gene': 'MIR6728', 'score': 0.44}, {'connected_gene': 'ENO1', 'score': 0.37}, {'connected_gene': 'RPL23AP19', 'score': 0.29}]
chr1	GH01I008862	8862328	8863625	0.85	[{'connected_gene': 'RNU6-304P', 'score': 11.63}, {'connected_gene': 'MIR6728', 'score': 0.77}, {'connected_gene': 'ENO1', 'score': 0.37}, {'connected_gene': 'RPL23AP19', 'score': 0.29}]
chr1	GH01I008700	8700283	8704191	1.8	[{'connected_gene': 'LOC102724552', 'score': 17.2}, {'connected_gene': 'PER3', 'score': 12.84}, {'connected_gene': 'ENO1', 'score': 9.51}, {'connected_gene': 'RPL7P11', 'score': 0.25}, {'connected_gene': 'RERE', 'score': 0.13}, {'connected_gene': 'ENSG00000270282', 'score': 0.09}]
chr1	GH01I008864	8864548	8866514	0.79	[{'connected_gene': 'MIR6728', 'score': 550.77}, {'connected_gene': 'ENO1', 'score': 19.02}, {'connected_gene': 'RPL23AP19', 'score': 0.29}]
chr1	GH01I008863	8863782	8863931	0.58	[{'connected_gene': 'MIR6728', 'score': 0.77}, {'connected_gene': 'ENO1', 'score': 0.37}, {'connected_gene': 'RPL23AP19', 'score': 0.29}]
chr1	GH01I008870	8869182	8869331	0.86	[{'connected_gene': 'MIR6728', 'score': 0.77}, {'connected_gene': 'ENO1-IT1', 'score': 0.44}, {'connected_gene': 'ENO1', 'score': 0.44}]
chr1	GH01I008867	8867522	8868759	0.65	[{'connected_gene': 'MIR6728', 'score': 550.77}, {'connected_gene': 'LOC102724552', 'score': 14.38}, {'connected_gene': 'ENO1', 'score': 13.96}, {'connected_gene': 'ENO1-IT1', 'score': 0.44}]
chr1	GH01I008891	8891321	8892541	0.43	[{'connected_gene': 'HMGN2P17', 'score': 550.77}, {'connected_gene': 'LOC102724552', 'score': 6.38}, {'connected_gene': 'ENO1', 'score': 5.66}, {'connected_gene': 'GC01P008884', 'score': 0.44}]
chr1	GH01I008352	8352280	8353850	0.94	[{'connected_gene': 'PIR31362', 'score': 550.77}, {'connected_gene': 'RERE', 'score': 14.75}, {'connected_gene': 'SLC45A1', 'score': 11.85}, {'connected_gene': 'ENSG00000238290', 'score': 11.23}, {'connected_gene': 'ERRFI1', 'score': 11.23}, {'connected_gene': 'PARK7', 'score': 10.19}, {'connected_gene': 'ENO1', 'score': 8.99}, {'connected_gene': 'ENSG00000252254', 'score': 0.34}]
chr1	GH01I008570	8570563	8573191	1.06	[{'connected_gene': 'ENSG00000221083', 'score': 10.58}, {'connected_gene': 'RERE', 'score': 9.46}, {'connected_gene': 'ENO1', 'score': 6.04}, {'connected_gene': 'LOC102724552', 'score': 4.52}, {'connected_gene': 'ENSG00000270282', 'score': 0.22}, {'connected_gene': 'RPL7P11', 'score': 0.1}]
chr1	GH01I008667	8667717	8671799	1.31	[{'connected_gene': 'ENSG00000221083', 'score': 10.0}, {'connected_gene': 'RERE', 'score': 8.07}, {'connected_gene': 'ENO1', 'score': 4.58}, {'connected_gene': 'RPL7P11', 'score': 0.18}, {'connected_gene': 'ENSG00000270282', 'score': 0.1}]
chr1	GH01I008532	8532227	8535982	0.46	[{'connected_gene': 'ENSG00000221083', 'score': 11.62}, {'connected_gene': 'ENO1', 'score': 8.22}, {'connected_gene': 'ENSG00000270282', 'score': 0.34}, {'connected_gene': 'RPL7P11', 'score': 0.08}, {'connected_gene': 'RERE', 'score': 0.06}]
chr1	GH01I008639	8639073	8641039	0.43	[{'connected_gene': 'ENSG00000221083', 'score': 10.23}, {'connected_gene': 'ENO1', 'score': 8.02}, {'connected_gene': 'RPL7P11', 'score': 0.14}, {'connected_gene': 'ENSG00000270282', 'score': 0.13}, {'connected_gene': 'RERE', 'score': 0.1}]
chr1	GH01I008907	8907135	8907961	0.2	[{'connected_gene': 'ENSG00000232208', 'score': 550.77}, {'connected_gene': 'RNU6-304P', 'score': 12.96}, {'connected_gene': 'GPR157', 'score': 10.32}, {'connected_gene': 'MIR34A', 'score': 10.23}, {'connected_gene': 'ENSG00000221083', 'score': 8.69}, {'connected_gene': 'ENO1', 'score': 6.6}, {'connected_gene': 'HMGN2P17', 'score': 0.39}]
chr1	GH01I008908	8908175	8909356	1.04	[{'connected_gene': 'ENSG00000232208', 'score': 550.77}, {'connected_gene': 'ENSG00000232663', 'score': 550.77}, {'connected_gene': 'RNU6-304P', 'score': 12.76}, {'connected_gene': 'ENO1', 'score': 6.72}]
chr1	GH01I008560	8560878	8561813	1.03	[{'connected_gene': 'ENSG00000221083', 'score': 10.78}, {'connected_gene': 'LOC102724552', 'score': 10.26}, {'connected_gene': 'ENO1', 'score': 8.38}, {'connected_gene': 'ENSG00000270282', 'score': 0.25}, {'connected_gene': 'RPL7P11', 'score': 0.09}, {'connected_gene': 'RERE', 'score': 0.07}]
chr1	GH01I008796	8796774	8798058	0.56	[{'connected_gene': 'ENSG00000222511', 'score': 550.77}, {'connected_gene': 'RPL27P3', 'score': 550.77}, {'connected_gene': 'RERE', 'score': 13.28}, {'connected_gene': 'LOC102724552', 'score': 10.68}, {'connected_gene': 'ENO1', 'score': 9.52}, {'connected_gene': 'SLC45A1', 'score': 8.98}]