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
ENST00000379375	[[12290595, 12290926], [12292573, 12292742], [12294173, 12294329], [12294493, 12294637], [12296194, 12297427]]	[[12290862, 12290926], [12292573, 12292742], [12294173, 12294329], [12294493, 12294637], [12296194, 12296300]]
NM_001168319	[[12290528, 12290926], [12292576, 12292742], [12294173, 12294329], [12294493, 12294637], [12296194, 12297427]]	[[12290862, 12290926], [12292576, 12292742], [12294173, 12294329], [12294493, 12294637], [12296194, 12296300]]
NM_001955	[[12290528, 12290926], [12292573, 12292742], [12294173, 12294329], [12294493, 12294637], [12296194, 12297427]]	[[12290862, 12290926], [12292573, 12292742], [12294173, 12294329], [12294493, 12294637], [12296194, 12296300]]

Promoter

Chrom	Start	End	Description
chr6	12290586	12290600	CAGE_peak_1_at_EDN1_5end
chr6	12314459	12314482	CAGE_peak_3_at_EDN1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr6	GH06I012006	12006958	12015181	2.32	[{'connected_gene': 'HIVEP1', 'score': 561.12}, {'connected_gene': 'RPL15P3', 'score': 25.14}, {'connected_gene': 'ENSG00000229896', 'score': 5.65}, {'connected_gene': 'EDN1', 'score': 0.07}]
chr6	GH06I012362	12362279	12367582	1.56	[{'connected_gene': 'HIVEP1', 'score': 25.58}, {'connected_gene': 'EDN1', 'score': 11.23}, {'connected_gene': 'RN7SKP293', 'score': 5.04}, {'connected_gene': 'LOC105374931', 'score': 0.29}, {'connected_gene': 'SUMO2P12', 'score': 0.25}]
chr6	GH06I012265	12265195	12267062	1.12	[{'connected_gene': 'HIVEP1', 'score': 12.22}, {'connected_gene': 'EDN1', 'score': 2.27}, {'connected_gene': 'SUMO2P12', 'score': 0.23}]
chr6	GH06I012277	12277320	12277726	0.61	[{'connected_gene': 'HIVEP1', 'score': 17.15}, {'connected_gene': 'EDN1', 'score': 1.77}, {'connected_gene': 'SUMO2P12', 'score': 0.26}]
chr6	GH06I012275	12275157	12275403	1.2	[{'connected_gene': 'HIVEP1', 'score': 9.3}, {'connected_gene': 'EDN1', 'score': 1.77}, {'connected_gene': 'SUMO2P12', 'score': 0.26}]
chr6	GH06I012264	12264790	12265054	0.5	[{'connected_gene': 'HIVEP1', 'score': 12.03}, {'connected_gene': 'EDN1', 'score': 2.38}, {'connected_gene': 'SUMO2P12', 'score': 0.23}]
chr6	GH06I012207	12207854	12208990	1.11	[{'connected_gene': 'HIVEP1', 'score': 19.67}, {'connected_gene': 'EDN1', 'score': 1.87}, {'connected_gene': 'ENSG00000229896', 'score': 0.08}]
chr6	GH06I012250	12250491	12250669	0.63	[{'connected_gene': 'HIVEP1', 'score': 8.72}, {'connected_gene': 'EDN1', 'score': 1.59}, {'connected_gene': 'ENSG00000229896', 'score': 0.07}]
chr6	GH06I012232	12232242	12234774	1.45	[{'connected_gene': 'HIVEP1', 'score': 18.91}, {'connected_gene': 'EDN1', 'score': 2.07}, {'connected_gene': 'ENSG00000229896', 'score': 0.07}]
chr6	GH06I012182	12182771	12182979	0.34	[{'connected_gene': 'HIVEP1', 'score': 17.51}, {'connected_gene': 'EDN1', 'score': 1.54}, {'connected_gene': 'ENSG00000229896', 'score': 0.1}]
chr6	GH06I012044	12044401	12045717	0.98	[{'connected_gene': 'HIVEP1', 'score': 11.9}, {'connected_gene': 'ENSG00000229896', 'score': 0.28}, {'connected_gene': 'EDN1', 'score': 0.08}]
chr6	GH06I012241	12241284	12242951	0.95	[{'connected_gene': 'HIVEP1', 'score': 7.74}, {'connected_gene': 'EDN1', 'score': 1.68}, {'connected_gene': 'ENSG00000229896', 'score': 0.07}]
chr6	GH06I012047	12047081	12054230	1.33	[{'connected_gene': 'HIVEP1', 'score': 22.08}, {'connected_gene': 'LOC101928253', 'score': 11.19}, {'connected_gene': 'EDN1', 'score': 1.2}, {'connected_gene': 'ENSG00000229896', 'score': 0.26}]
chr6	GH06I011648	11648402	11656915	1.53	[{'connected_gene': 'EDN1', 'score': 11.44}, {'connected_gene': 'C6orf52', 'score': 4.82}, {'connected_gene': 'ADTRP', 'score': 4.69}, {'connected_gene': 'GC06P011650', 'score': 0.77}, {'connected_gene': 'LOC340184', 'score': 0.28}]
chr6	GH06I011687	11687309	11688600	0.59	[{'connected_gene': 'EDN1', 'score': 9.56}, {'connected_gene': 'LOC340184', 'score': 0.77}, {'connected_gene': 'GC06P011650', 'score': 0.28}]
chr6	GH06I011684	11684802	11686634	0.97	[{'connected_gene': 'EDN1', 'score': 9.96}, {'connected_gene': 'LOC340184', 'score': 0.77}, {'connected_gene': 'GC06P011650', 'score': 0.28}]
chr6	GH06I012164	12164428	12164515	0.2	[{'connected_gene': 'EDN1', 'score': 0.15}, {'connected_gene': 'ENSG00000229896', 'score': 0.1}, {'connected_gene': 'HIVEP1', 'score': 0.1}]
chr6	GH06I012160	12160061	12161441	0.31	[{'connected_gene': 'EDN1', 'score': 10.45}, {'connected_gene': 'ENSG00000229896', 'score': 0.1}, {'connected_gene': 'HIVEP1', 'score': 0.1}]
chr6	GH06I012147	12147860	12149363	0.6	[{'connected_gene': 'EDN1', 'score': 11.29}, {'connected_gene': 'ENSG00000229896', 'score': 0.11}, {'connected_gene': 'HIVEP1', 'score': 0.11}]
chr6	GH06I012638	12638032	12638171	0.76	[{'connected_gene': 'EDN1', 'score': 11.66}, {'connected_gene': 'PHACTR1', 'score': 10.13}, {'connected_gene': 'LINC02530', 'score': 0.23}]
chr6	GH06I012341	12341318	12345720	1.05	[{'connected_gene': 'EDN1', 'score': 10.52}, {'connected_gene': 'RN7SKP293', 'score': 9.71}, {'connected_gene': 'SUMO2P12', 'score': 0.34}, {'connected_gene': 'LOC105374931', 'score': 0.23}]
chr6	GH06I012326	12326502	12329915	0.67	[{'connected_gene': 'EDN1', 'score': 11.32}, {'connected_gene': 'RN7SKP293', 'score': 7.88}, {'connected_gene': 'SUMO2P12', 'score': 0.44}, {'connected_gene': 'LOC105374931', 'score': 0.2}]
chr6	GH06I012322	12322468	12326229	1.61	[{'connected_gene': 'EDN1', 'score': 11.55}, {'connected_gene': 'RN7SKP293', 'score': 8.53}, {'connected_gene': 'SUMO2P12', 'score': 0.77}, {'connected_gene': 'LOC105374931', 'score': 0.19}]
chr6	GH06I012347	12347862	12352398	1.31	[{'connected_gene': 'EDN1', 'score': 11.67}, {'connected_gene': 'RN7SKP293', 'score': 9.82}, {'connected_gene': 'SUMO2P12', 'score': 0.29}, {'connected_gene': 'LOC105374931', 'score': 0.25}]
chr6	GH06I012287	12287113	12299315	2.59	[{'connected_gene': 'EDN1', 'score': 550.29}, {'connected_gene': 'RN7SKP293', 'score': 8.52}, {'connected_gene': 'ENSG00000272379', 'score': 5.05}, {'connected_gene': 'SUMO2P12', 'score': 0.31}]
chr6	GH06I012312	12312668	12316067	1.28	[{'connected_gene': 'EDN1', 'score': 11.9}, {'connected_gene': 'RN7SKP293', 'score': 7.97}, {'connected_gene': 'SUMO2P12', 'score': 0.44}]
chr6	GH06I012482	12482891	12485710	1.28	[{'connected_gene': 'EDN1', 'score': 2.18}, {'connected_gene': 'GC06P012515', 'score': 0.31}, {'connected_gene': 'RN7SKP293', 'score': 0.18}]
chr6	GH06I012276	12276192	12276992	0.58	[{'connected_gene': 'EDN1', 'score': 0.37}, {'connected_gene': 'SUMO2P12', 'score': 0.26}]
chr6	GH06I012286	12286800	12287000	0.51	[{'connected_gene': 'EDN1', 'score': 0.31}, {'connected_gene': 'SUMO2P12', 'score': 0.29}]
chr6	GH06I012279	12279323	12280000	0.72	[{'connected_gene': 'EDN1', 'score': 0.37}, {'connected_gene': 'SUMO2P12', 'score': 0.28}]
chr6	GH06I012270	12270523	12271227	0.43	[{'connected_gene': 'EDN1', 'score': 0.44}, {'connected_gene': 'SUMO2P12', 'score': 0.25}]
chr6	GH06I012259	12259568	12264085	0.93	[{'connected_gene': 'EDN1', 'score': 550.77}, {'connected_gene': 'SUMO2P12', 'score': 0.22}]
chr6	GH06I012273	12273610	12273628	0.44	[{'connected_gene': 'EDN1', 'score': 0.39}, {'connected_gene': 'SUMO2P12', 'score': 0.25}]
chr6	GH06I012284	12284910	12285262	0.64	[{'connected_gene': 'EDN1', 'score': 0.34}, {'connected_gene': 'SUMO2P12', 'score': 0.29}]
chr6	GH06I012592	12592617	12593001	0.9	[{'connected_gene': 'EDN1', 'score': 11.85}, {'connected_gene': 'LINC02530', 'score': 0.44}, {'connected_gene': 'GC06P012572', 'score': 0.34}, {'connected_gene': 'PHACTR1', 'score': 0.13}]
chr6	GH06I012593	12593556	12596000	1.12	[{'connected_gene': 'EDN1', 'score': 11.01}, {'connected_gene': 'LINC02530', 'score': 0.44}, {'connected_gene': 'GC06P012572', 'score': 0.34}, {'connected_gene': 'PHACTR1', 'score': 0.13}]
chr6	GH06I012605	12605757	12606354	1	[{'connected_gene': 'EDN1', 'score': 11.96}, {'connected_gene': 'LINC02530', 'score': 0.34}, {'connected_gene': 'GC06P012572', 'score': 0.29}, {'connected_gene': 'PHACTR1', 'score': 0.14}]
chr6	GH06I012607	12607707	12609365	1.18	[{'connected_gene': 'EDN1', 'score': 11.97}, {'connected_gene': 'LINC02530', 'score': 0.34}, {'connected_gene': 'GC06P012572', 'score': 0.28}, {'connected_gene': 'PHACTR1', 'score': 0.14}]
chr6	GH06I012601	12601797	12603905	1.33	[{'connected_gene': 'EDN1', 'score': 13.35}, {'connected_gene': 'LINC02530', 'score': 0.37}, {'connected_gene': 'GC06P012572', 'score': 0.29}, {'connected_gene': 'PHACTR1', 'score': 0.14}]
chr6	GH06I012254	12254883	12255970	0.2	[{'connected_gene': 'EDN1', 'score': 0.44}, {'connected_gene': 'ENSG00000229896', 'score': 0.07}]
chr6	GH06I012245	12245107	12247638	0.63	[{'connected_gene': 'EDN1', 'score': 0.39}, {'connected_gene': 'ENSG00000229896', 'score': 0.07}]
chr6	GH06I012227	12227744	12230313	0.91	[{'connected_gene': 'EDN1', 'score': 0.29}, {'connected_gene': 'ENSG00000229896', 'score': 0.07}]
chr6	GH06I012248	12248736	12250296	0.86	[{'connected_gene': 'EDN1', 'score': 0.39}, {'connected_gene': 'ENSG00000229896', 'score': 0.07}]
chr6	GH06I012253	12253853	12254616	0.4	[{'connected_gene': 'EDN1', 'score': 0.44}, {'connected_gene': 'ENSG00000229896', 'score': 0.07}]
chr6	GH06I012202	12202490	12204258	0.74	[{'connected_gene': 'EDN1', 'score': 0.22}, {'connected_gene': 'ENSG00000229896', 'score': 0.08}]
chr6	GH06I012303	12303913	12305504	0.31	[{'connected_gene': 'RN7SKP293', 'score': 6.24}, {'connected_gene': 'SUMO2P12', 'score': 0.39}, {'connected_gene': 'EDN1', 'score': 0.26}]
chr6	GH06I012584	12584061	12587465	0.94	[{'connected_gene': 'LINC02530', 'score': 550.77}, {'connected_gene': 'EDN1', 'score': 10.74}, {'connected_gene': 'PHACTR1', 'score': 4.29}, {'connected_gene': 'GC06P012572', 'score': 0.39}]
chr6	GH06I011585	11585088	11593431	1.42	[{'connected_gene': 'TMEM170B', 'score': 22.38}, {'connected_gene': 'EDN1', 'score': 11.28}, {'connected_gene': 'PIR31990', 'score': 0.44}, {'connected_gene': 'ENSG00000271897', 'score': 0.37}]
chr6	GH06I011597	11597546	11600551	0.82	[{'connected_gene': 'TMEM170B', 'score': 18.88}, {'connected_gene': 'EDN1', 'score': 10.54}, {'connected_gene': 'ENSG00000271897', 'score': 0.44}, {'connected_gene': 'PIR31990', 'score': 0.37}]
chr6	GH06I011749	11749769	11752067	0.68	[{'connected_gene': 'GC06M011750', 'score': 550.77}, {'connected_gene': 'ADTRP', 'score': 16.58}, {'connected_gene': 'EDN1', 'score': 10.04}, {'connected_gene': 'GC06P011709', 'score': 0.26}]
chr6	GH06I012112	12112841	12115630	0.93	[{'connected_gene': 'ENSG00000229896', 'score': 0.14}, {'connected_gene': 'HIVEP1', 'score': 0.14}, {'connected_gene': 'EDN1', 'score': 0.11}]
chr6	GH06I012058	12058601	12058800	0.38	[{'connected_gene': 'ENSG00000229896', 'score': 0.23}, {'connected_gene': 'HIVEP1', 'score': 0.23}, {'connected_gene': 'EDN1', 'score': 0.08}]
chr6	GH06I012037	12037801	12038000	0.31	[{'connected_gene': 'ENSG00000229896', 'score': 0.29}, {'connected_gene': 'HIVEP1', 'score': 0.29}, {'connected_gene': 'EDN1', 'score': 0.07}]
chr6	GH06I012021	12021067	12021804	0.59	[{'connected_gene': 'ENSG00000229896', 'score': 0.39}, {'connected_gene': 'HIVEP1', 'score': 0.39}, {'connected_gene': 'EDN1', 'score': 0.07}]
chr6	GH06I012065	12064816	12066595	1.02	[{'connected_gene': 'ENSG00000229896', 'score': 0.22}, {'connected_gene': 'HIVEP1', 'score': 0.22}, {'connected_gene': 'EDN1', 'score': 0.08}]
chr6	GH06I012059	12059601	12059800	0.31	[{'connected_gene': 'ENSG00000229896', 'score': 0.23}, {'connected_gene': 'HIVEP1', 'score': 0.23}, {'connected_gene': 'EDN1', 'score': 0.08}]
chr6	GH06I012019	12019947	12020907	0.7	[{'connected_gene': 'ENSG00000229896', 'score': 0.39}, {'connected_gene': 'HIVEP1', 'score': 0.39}, {'connected_gene': 'EDN1', 'score': 0.07}]
chr6	GH06I012118	12118467	12120138	0.78	[{'connected_gene': 'ENSG00000229896', 'score': 0.14}, {'connected_gene': 'HIVEP1', 'score': 0.14}, {'connected_gene': 'EDN1', 'score': 0.11}]
chr6	GH06I012024	12024693	12026031	0.78	[{'connected_gene': 'ENSG00000229896', 'score': 0.37}, {'connected_gene': 'HIVEP1', 'score': 0.37}, {'connected_gene': 'EDN1', 'score': 0.07}]
chr6	GH06I012022	12022152	12023499	0.8	[{'connected_gene': 'ENSG00000229896', 'score': 0.37}, {'connected_gene': 'HIVEP1', 'score': 0.37}, {'connected_gene': 'EDN1', 'score': 0.07}]
chr6	GH06I012060	12060348	12061862	1.05	[{'connected_gene': 'ENSG00000229896', 'score': 0.23}, {'connected_gene': 'HIVEP1', 'score': 0.23}, {'connected_gene': 'EDN1', 'score': 0.08}]
chr6	GH06I012033	12033581	12034875	0.87	[{'connected_gene': 'ENSG00000229896', 'score': 0.31}, {'connected_gene': 'HIVEP1', 'score': 0.31}, {'connected_gene': 'EDN1', 'score': 0.07}]
chr6	GH06I012064	12064308	12064457	0.59	[{'connected_gene': 'ENSG00000229896', 'score': 0.22}, {'connected_gene': 'HIVEP1', 'score': 0.22}, {'connected_gene': 'EDN1', 'score': 0.08}]