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
ENST00000378602	[[1849028, 1849601], [1849691, 1850236]]	[[1849320, 1849601], [1849691, 1849995]]
ENST00000310991	[[1849029, 1849601], [1849691, 1849870], [1850331, 1850373], [1850483, 1850527], [1850620, 1850712]]	[[1849320, 1849601], [1849691, 1849870], [1850331, 1850373], [1850483, 1850527], [1850620, 1850704]]
ENST00000378598	[[1849283, 1849510], [1850331, 1850373], [1850483, 1850697]]	[[1849391, 1849510], [1850331, 1850373], [1850483, 1850697]]
ENST00000470931	[[1849375, 1849601], [1849691, 1849870], [1850331, 1850527], [1850620, 1850709]]	[[1850479, 1850527], [1850620, 1850704]]
ENST00000602604	[[1849537, 1849601], [1849691, 1850373], [1850483, 1850527], [1850620, 1850708]]	None
ENST00000416272	[[1849824, 1849870], [1850331, 1850373], [1850483, 1850708]]	[[1849824, 1849870], [1850331, 1850373], [1850483, 1850704]]
NM_178545	[[1849028, 1849601], [1849691, 1849870], [1850331, 1850373], [1850483, 1850527], [1850620, 1850740]]	[[1849320, 1849601], [1849691, 1849870], [1850331, 1850373], [1850483, 1850527], [1850620, 1850704]]

Promoter

Chrom	Start	End	Description
chr1	1850504	1850518	CAGE_peak_3_at_TMEM52_5end
chr1	1850703	1850724	CAGE_peak_1_at_TMEM52_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I001775	1775225	1783826	2.53	[{'connected_gene': 'NADK', 'score': 589.25}, {'connected_gene': 'INTS11', 'score': 35.2}, {'connected_gene': 'ENSG00000240731', 'score': 30.62}, {'connected_gene': 'CCNL2', 'score': 30.43}, {'connected_gene': 'CDK11A', 'score': 28.52}, {'connected_gene': 'LOC100288379', 'score': 26.41}, {'connected_gene': 'LOC105378949', 'score': 24.29}, {'connected_gene': 'SDF4', 'score': 24.0}, {'connected_gene': 'ENSG00000230092', 'score': 22.21}, {'connected_gene': 'ATAD3B', 'score': 21.12}, {'connected_gene': 'FAM87B', 'score': 20.99}, {'connected_gene': 'LINC00115', 'score': 18.72}, {'connected_gene': 'TMEM52', 'score': 18.05}, {'connected_gene': 'LOC100129381', 'score': 12.74}, {'connected_gene': 'SLC35E2', 'score': 12.61}, {'connected_gene': 'CALML6', 'score': 11.74}, {'connected_gene': 'FAAP20', 'score': 11.19}, {'connected_gene': 'MXRA8', 'score': 10.71}, {'connected_gene': 'SLC35E2B', 'score': 10.4}, {'connected_gene': 'RER1', 'score': 10.01}, {'connected_gene': 'CDK11B', 'score': 6.36}, {'connected_gene': 'GNB1', 'score': 2.86}, {'connected_gene': 'SKI', 'score': 2.83}, {'connected_gene': 'GC01M001783', 'score': 0.44}, {'connected_gene': 'GC01P001764', 'score': 0.39}, {'connected_gene': 'PIR60981', 'score': 0.39}]
chr1	GH01I001771	1771151	1772119	0.49	[{'connected_gene': 'TMEM52', 'score': 17.76}, {'connected_gene': 'MORN1', 'score': 13.13}, {'connected_gene': 'LINC01786', 'score': 12.93}, {'connected_gene': 'LOC100129534', 'score': 10.92}, {'connected_gene': 'TMEM240', 'score': 10.68}, {'connected_gene': 'MIB2', 'score': 10.39}, {'connected_gene': 'ENSG00000272455', 'score': 10.31}, {'connected_gene': 'LOC105378580', 'score': 10.13}, {'connected_gene': 'SCNN1D', 'score': 9.99}, {'connected_gene': 'GC01P001764', 'score': 0.44}, {'connected_gene': 'NADK', 'score': 0.44}, {'connected_gene': 'PIR60981', 'score': 0.44}]
chr1	GH01I001740	1740602	1741731	0.94	[{'connected_gene': 'TMEM52', 'score': 12.35}, {'connected_gene': 'CALML6', 'score': 10.14}, {'connected_gene': 'SLC35E2', 'score': 0.77}, {'connected_gene': 'ENSG00000268575', 'score': 0.77}]
chr1	GH01I001816	1816707	1818280	0.56	[{'connected_gene': 'TMEM52', 'score': 29.31}, {'connected_gene': 'CALML6', 'score': 11.29}, {'connected_gene': 'LOC105378949', 'score': 6.21}, {'connected_gene': 'GC01P001820', 'score': 0.77}, {'connected_gene': 'GC01M001783', 'score': 0.29}, {'connected_gene': 'GNB1', 'score': 0.19}]
chr1	GH01I001825	1825872	1830227	0.72	[{'connected_gene': 'TMEM52', 'score': 18.19}, {'connected_gene': 'CALML6', 'score': 11.95}, {'connected_gene': 'LOC105378949', 'score': 6.89}, {'connected_gene': 'GC01P001820', 'score': 0.44}, {'connected_gene': 'GC01M001827', 'score': 0.39}, {'connected_gene': 'GNB1', 'score': 0.21}]
chr1	GH01I001795	1795437	1798942	0.54	[{'connected_gene': 'TMEM52', 'score': 27.6}, {'connected_gene': 'LOC105378949', 'score': 12.33}, {'connected_gene': 'GNB1', 'score': 12.32}, {'connected_gene': 'CALML6', 'score': 10.92}, {'connected_gene': 'SLC35E2B', 'score': 4.51}, {'connected_gene': 'GC01M001783', 'score': 0.39}, {'connected_gene': 'GC01P001820', 'score': 0.34}]
chr1	GH01I001877	1877419	1879682	0.43	[{'connected_gene': 'TMEM52', 'score': 16.56}, {'connected_gene': 'LOC105378949', 'score': 12.39}, {'connected_gene': 'GC01P001881', 'score': 0.77}, {'connected_gene': 'GNB1', 'score': 0.39}, {'connected_gene': 'GC01P001866', 'score': 0.39}]
chr1	GH01I001913	1913726	1921421	2.19	[{'connected_gene': 'TMEM52', 'score': 571.22}, {'connected_gene': 'LOC105378949', 'score': 21.22}, {'connected_gene': 'CALML6', 'score': 14.1}, {'connected_gene': 'CFAP74', 'score': 11.5}, {'connected_gene': 'LOC105378589', 'score': 11.49}, {'connected_gene': 'GABRD', 'score': 11.48}]
chr1	GH01I001942	1942471	1944650	1.21	[{'connected_gene': 'TMEM52', 'score': 31.21}, {'connected_gene': 'LOC105378949', 'score': 19.91}, {'connected_gene': 'CALML6', 'score': 16.47}, {'connected_gene': 'MORN1', 'score': 14.95}, {'connected_gene': 'FAAP20', 'score': 13.93}, {'connected_gene': 'ATAD3B', 'score': 12.86}, {'connected_gene': 'INTS11', 'score': 11.91}, {'connected_gene': 'LOC100129534', 'score': 11.82}, {'connected_gene': 'LINC01786', 'score': 11.81}, {'connected_gene': 'ENSG00000234396', 'score': 11.8}, {'connected_gene': 'ENSG00000240731', 'score': 11.11}, {'connected_gene': 'ENSG00000272455', 'score': 10.93}, {'connected_gene': 'SLC35E2', 'score': 10.89}, {'connected_gene': 'MIB2', 'score': 10.32}, {'connected_gene': 'CCNL2', 'score': 10.04}, {'connected_gene': 'SLC35E2B', 'score': 9.95}, {'connected_gene': 'LOC100129381', 'score': 9.9}, {'connected_gene': 'PIR58366', 'score': 0.39}, {'connected_gene': 'GC01P001930', 'score': 0.39}, {'connected_gene': 'CFAP74', 'score': 0.21}]
chr1	GH01I001888	1888049	1897969	2.45	[{'connected_gene': 'GNB1', 'score': 550.77}, {'connected_gene': 'GC01M001889', 'score': 550.77}, {'connected_gene': 'LOC105378949', 'score': 28.74}, {'connected_gene': 'ATAD3B', 'score': 19.58}, {'connected_gene': 'CCNL2', 'score': 16.43}, {'connected_gene': 'CALML6', 'score': 15.63}, {'connected_gene': 'FAAP20', 'score': 14.33}, {'connected_gene': 'INTS11', 'score': 14.02}, {'connected_gene': 'ENSG00000234396', 'score': 13.97}, {'connected_gene': 'ENSG00000240731', 'score': 13.7}, {'connected_gene': 'TMEM52', 'score': 12.02}, {'connected_gene': 'SLC35E2', 'score': 11.72}, {'connected_gene': 'LOC100129381', 'score': 11.54}, {'connected_gene': 'LOC100288379', 'score': 10.95}, {'connected_gene': 'PUSL1', 'score': 10.06}, {'connected_gene': 'SLC35E2B', 'score': 9.92}, {'connected_gene': 'ENSG00000272455', 'score': 9.69}]
chr1	GH01I001815	1815407	1816557	0.38	[{'connected_gene': 'CALML6', 'score': 11.29}, {'connected_gene': 'TMEM52', 'score': 11.28}, {'connected_gene': 'GC01P001820', 'score': 0.77}, {'connected_gene': 'GC01M001783', 'score': 0.29}, {'connected_gene': 'GNB1', 'score': 0.18}]
chr1	GH01I001813	1813830	1814675	0.2	[{'connected_gene': 'CALML6', 'score': 11.29}, {'connected_gene': 'TMEM52', 'score': 11.28}, {'connected_gene': 'GC01P001820', 'score': 0.44}, {'connected_gene': 'GC01M001783', 'score': 0.31}, {'connected_gene': 'GNB1', 'score': 0.18}]
chr1	GH01I001805	1805687	1807774	0.38	[{'connected_gene': 'CALML6', 'score': 11.62}, {'connected_gene': 'TMEM52', 'score': 11.61}, {'connected_gene': 'LOC105378949', 'score': 9.25}, {'connected_gene': 'GC01P001820', 'score': 0.39}, {'connected_gene': 'GC01M001783', 'score': 0.34}, {'connected_gene': 'GNB1', 'score': 0.18}]
chr1	GH01I001906	1906056	1910318	1.84	[{'connected_gene': 'LOC105378949', 'score': 25.5}, {'connected_gene': 'INTS11', 'score': 23.76}, {'connected_gene': 'ENSG00000240731', 'score': 19.77}, {'connected_gene': 'CALML6', 'score': 17.04}, {'connected_gene': 'CCNL2', 'score': 15.1}, {'connected_gene': 'CDK11A', 'score': 13.51}, {'connected_gene': 'LOC100288379', 'score': 13.5}, {'connected_gene': 'C1orf159', 'score': 12.23}, {'connected_gene': 'TMEM52', 'score': 12.17}, {'connected_gene': 'NOC2L', 'score': 12.15}, {'connected_gene': 'GABRD', 'score': 11.53}, {'connected_gene': 'SDF4', 'score': 11.53}, {'connected_gene': 'FAAP20', 'score': 11.2}, {'connected_gene': 'MXRA8', 'score': 10.7}, {'connected_gene': 'ATAD3B', 'score': 10.36}, {'connected_gene': 'CFAP74', 'score': 9.76}, {'connected_gene': 'LOC105378589', 'score': 9.75}, {'connected_gene': 'ISG15', 'score': 4.48}, {'connected_gene': 'MIB2', 'score': 3.87}, {'connected_gene': 'TMEM240', 'score': 2.03}, {'connected_gene': 'SKI', 'score': 1.83}, {'connected_gene': 'PRKCZ', 'score': 1.43}, {'connected_gene': 'GC01M001889', 'score': 0.37}]
chr1	GH01I001922	1922040	1924030	0.79	[{'connected_gene': 'LOC105378949', 'score': 21.2}, {'connected_gene': 'TMEM52', 'score': 18.17}, {'connected_gene': 'CFAP74', 'score': 11.51}, {'connected_gene': 'LOC105378589', 'score': 11.49}, {'connected_gene': 'GABRD', 'score': 11.49}, {'connected_gene': 'GC01P001930', 'score': 0.44}]
chr1	GH01I001845	1845739	1848533	1.19	[{'connected_gene': 'LOC105378949', 'score': 22.04}, {'connected_gene': 'TMEM52', 'score': 15.97}, {'connected_gene': 'GC01M001827', 'score': 0.77}, {'connected_gene': 'GC01P001866', 'score': 0.37}, {'connected_gene': 'GNB1', 'score': 0.26}]
chr1	GH01I001885	1885910	1887600	0.38	[{'connected_gene': 'LOC105378949', 'score': 577.94}, {'connected_gene': 'TMEM52', 'score': 16.04}, {'connected_gene': 'GNB1', 'score': 0.77}]
chr1	GH01I001801	1801244	1802461	0.2	[{'connected_gene': 'LOC105378949', 'score': 25.95}, {'connected_gene': 'GNB1', 'score': 12.33}, {'connected_gene': 'CALML6', 'score': 10.93}, {'connected_gene': 'TMEM52', 'score': 10.92}, {'connected_gene': 'GC01M001783', 'score': 0.37}, {'connected_gene': 'GC01P001820', 'score': 0.37}]
chr1	GH01I001799	1799147	1800878	0.63	[{'connected_gene': 'LOC105378949', 'score': 12.33}, {'connected_gene': 'GNB1', 'score': 12.32}, {'connected_gene': 'CALML6', 'score': 10.93}, {'connected_gene': 'TMEM52', 'score': 10.92}, {'connected_gene': 'GC01M001783', 'score': 0.39}, {'connected_gene': 'GC01P001820', 'score': 0.34}]
chr1	GH01I001802	1802777	1803868	0.2	[{'connected_gene': 'LOC105378949', 'score': 24.13}, {'connected_gene': 'GNB1', 'score': 12.33}, {'connected_gene': 'CALML6', 'score': 10.93}, {'connected_gene': 'TMEM52', 'score': 10.92}, {'connected_gene': 'GC01M001783', 'score': 0.37}, {'connected_gene': 'GC01P001820', 'score': 0.37}]
chr1	GH01I001766	1766848	1767933	0.2	[{'connected_gene': 'LOC105378949', 'score': 11.17}, {'connected_gene': 'CALML6', 'score': 11.14}, {'connected_gene': 'TMEM52', 'score': 11.13}, {'connected_gene': 'ANKRD65', 'score': 4.44}, {'connected_gene': 'GC01P001764', 'score': 0.77}, {'connected_gene': 'PIR60981', 'score': 0.77}, {'connected_gene': 'NADK', 'score': 0.39}]
chr1	GH01I001989	1989331	1991017	0.98	[{'connected_gene': 'LOC105378589', 'score': 12.93}, {'connected_gene': 'GABRD', 'score': 12.93}, {'connected_gene': 'TMEM52', 'score': 11.89}, {'connected_gene': 'CALML6', 'score': 11.88}, {'connected_gene': 'LOC105378591', 'score': 11.52}, {'connected_gene': 'PRKCZ', 'score': 11.51}, {'connected_gene': 'ENSG00000272512', 'score': 4.77}, {'connected_gene': 'CFAP74', 'score': 0.39}, {'connected_gene': 'PIR40513', 'score': 0.34}]
chr1	GH01I001842	1842384	1843473	0.8	[{'connected_gene': 'GC01M001827', 'score': 550.77}, {'connected_gene': 'ENSG00000240731', 'score': 23.48}, {'connected_gene': 'CCNL2', 'score': 20.09}, {'connected_gene': 'TMEM52', 'score': 16.49}, {'connected_gene': 'INTS11', 'score': 11.18}, {'connected_gene': 'LOC100129534', 'score': 10.77}, {'connected_gene': 'C1orf159', 'score': 10.49}, {'connected_gene': 'ATAD3B', 'score': 9.93}, {'connected_gene': 'CALML6', 'score': 4.62}, {'connected_gene': 'GC01P001866', 'score': 0.34}, {'connected_gene': 'GNB1', 'score': 0.25}]
chr1	GH01I001761	1761396	1762645	0.31	[{'connected_gene': 'GC01P001762', 'score': 550.77}, {'connected_gene': 'TMEM52', 'score': 17.44}, {'connected_gene': 'GC01M001756', 'score': 0.77}, {'connected_gene': 'NADK', 'score': 0.37}]
chr1	GH01I001737	1737474	1740537	0.38	[{'connected_gene': 'ENSG00000268575', 'score': 550.77}, {'connected_gene': 'TMEM52', 'score': 12.56}, {'connected_gene': 'CALML6', 'score': 10.12}, {'connected_gene': 'CDK11B', 'score': 5.21}, {'connected_gene': 'SLC35E2', 'score': 0.44}]
chr1	GH01I001763	1763640	1765393	1.19	[{'connected_gene': 'GC01P001764', 'score': 550.77}, {'connected_gene': 'PIR60981', 'score': 550.77}, {'connected_gene': 'TMEM52', 'score': 28.87}, {'connected_gene': 'CALML6', 'score': 11.14}, {'connected_gene': 'CDK11B', 'score': 4.69}, {'connected_gene': 'ANKRD65', 'score': 4.44}, {'connected_gene': 'GC01P001762', 'score': 0.77}, {'connected_gene': 'NADK', 'score': 0.37}]
chr1	GH01I001750	1750166	1750902	0.2	[{'connected_gene': 'GC01P001749', 'score': 550.77}, {'connected_gene': 'TMEM52', 'score': 14.98}, {'connected_gene': 'CALML6', 'score': 4.55}, {'connected_gene': 'PIR37346', 'score': 0.77}, {'connected_gene': 'GC01M001755', 'score': 0.77}]
chr1	GH01I001729	1729988	1730768	0.2	[{'connected_gene': 'PIR62946', 'score': 550.77}, {'connected_gene': 'GC01M001727', 'score': 550.77}, {'connected_gene': 'TMEM52', 'score': 10.53}, {'connected_gene': 'LOC100129381', 'score': 5.05}, {'connected_gene': 'ENSG00000268575', 'score': 0.44}, {'connected_gene': 'SLC35E2', 'score': 0.37}]
chr1	GH01I001749	1749047	1750120	0.62	[{'connected_gene': 'GC01P001749', 'score': 550.77}, {'connected_gene': 'TMEM52', 'score': 9.13}, {'connected_gene': 'PIR37346', 'score': 0.77}, {'connected_gene': 'GC01M001755', 'score': 0.77}]
chr1	GH01I001757	1757507	1760267	1.18	[{'connected_gene': 'GC01M001756', 'score': 550.77}, {'connected_gene': 'CALML6', 'score': 14.7}, {'connected_gene': 'TMEM52', 'score': 14.24}, {'connected_gene': 'GC01P001762', 'score': 0.77}, {'connected_gene': 'NADK', 'score': 0.34}]
chr1	GH01I001752	1752315	1753748	0.52	[{'connected_gene': 'PIR37346', 'score': 550.77}, {'connected_gene': 'GC01M001755', 'score': 550.77}, {'connected_gene': 'CALML6', 'score': 12.52}, {'connected_gene': 'TMEM52', 'score': 12.12}, {'connected_gene': 'GC01P001749', 'score': 0.77}, {'connected_gene': 'NADK', 'score': 0.31}]
chr1	GH01I001727	1727002	1729848	0.94	[{'connected_gene': 'PIR62946', 'score': 550.77}, {'connected_gene': 'CALML6', 'score': 10.31}, {'connected_gene': 'TMEM52', 'score': 4.51}, {'connected_gene': 'GC01M001727', 'score': 0.77}, {'connected_gene': 'LOC100129381', 'score': 0.77}, {'connected_gene': 'ENSG00000268575', 'score': 0.44}, {'connected_gene': 'SLC35E2', 'score': 0.37}]
chr1	GH01I001880	1880698	1882667	0.72	[{'connected_gene': 'GC01P001881', 'score': 550.77}, {'connected_gene': 'LOC105378949', 'score': 27.61}, {'connected_gene': 'TMEM52', 'score': 16.78}, {'connected_gene': 'NADK', 'score': 6.76}, {'connected_gene': 'GNB1', 'score': 0.44}]