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
ENST00000263726	[[180199420, 180199740], [180217419, 180217591], [180235526, 180235729], [180240514, 180240669], [180240969, 180241141], [180243319, 180249380]]	[[180199664, 180199740], [180217419, 180217591], [180235526, 180235729], [180240514, 180240669], [180240969, 180241141], [180243319, 180243714]]
ENST00000561113	[[180217419, 180217604], [180235526, 180235729], [180240514, 180240669], [180240969, 180241029]]	[[180217419, 180217604], [180235526, 180235729], [180240514, 180240580]]
ENST00000558139	[[180199432, 180199740], [180217419, 180217832]]	None
NM_033343	[[180199432, 180199740], [180217419, 180217591], [180235526, 180235729], [180240514, 180240669], [180240969, 180241141], [180243319, 180244188]]	[[180199664, 180199740], [180217419, 180217591], [180235526, 180235729], [180240514, 180240669], [180240969, 180241141], [180243319, 180243714]]

Promoter

Chrom	Start	End	Description
chr1	180199393	180199426	CAGE_peak_1_at_LHX4_5end
chr1	180199500	180199510	CAGE_peak_2_at_LHX4_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I179951	179951791	179957001	2.11	[{'connected_gene': 'CEP350', 'score': 560.87}, {'connected_gene': 'PIR45618', 'score': 550.77}, {'connected_gene': 'ENSG00000260360', 'score': 550.77}, {'connected_gene': 'LOC101928933', 'score': 550.77}, {'connected_gene': 'LHX4', 'score': 23.62}, {'connected_gene': 'QSOX1', 'score': 7.08}, {'connected_gene': 'ENSG00000261831', 'score': 5.66}]
chr1	GH01I180631	180631186	180633634	2.04	[{'connected_gene': 'XPR1', 'score': 550.77}, {'connected_gene': 'CEP350', 'score': 11.39}, {'connected_gene': 'LHX4', 'score': 10.53}, {'connected_gene': 'GC01P180759', 'score': 0.13}]
chr1	GH01I180570	180570745	180572759	1	[{'connected_gene': 'XPR1', 'score': 11.02}, {'connected_gene': 'LHX4', 'score': 7.25}, {'connected_gene': 'OVAAL', 'score': 0.39}]
chr1	GH01I180562	180562371	180563857	1.1	[{'connected_gene': 'XPR1', 'score': 11.63}, {'connected_gene': 'ACBD6', 'score': 10.03}, {'connected_gene': 'LHX4', 'score': 4.49}, {'connected_gene': 'OVAAL', 'score': 0.77}]
chr1	GH01I180579	180579594	180581099	0.72	[{'connected_gene': 'XPR1', 'score': 11.74}, {'connected_gene': 'ACBD6', 'score': 9.67}, {'connected_gene': 'LHX4', 'score': 6.76}, {'connected_gene': 'OVAAL', 'score': 0.34}]
chr1	GH01I180542	180542201	180543001	0.54	[{'connected_gene': 'XPR1', 'score': 10.68}, {'connected_gene': 'ACBD6', 'score': 10.38}, {'connected_gene': 'LHX4', 'score': 5.44}, {'connected_gene': 'GC01P180539', 'score': 0.77}, {'connected_gene': 'OVAAL', 'score': 0.37}]
chr1	GH01I180918	180918959	180919604	0.38	[{'connected_gene': 'LHX4', 'score': 13.31}, {'connected_gene': 'ENSG00000243155', 'score': 11.09}, {'connected_gene': 'XPR1', 'score': 10.27}, {'connected_gene': 'MR1', 'score': 10.12}, {'connected_gene': 'IER5', 'score': 10.05}, {'connected_gene': 'KIAA1614', 'score': 0.44}, {'connected_gene': 'GC01P180946', 'score': 0.31}]
chr1	GH01I180515	180515270	180516926	1.08	[{'connected_gene': 'LHX4', 'score': 10.55}, {'connected_gene': 'XPR1', 'score': 10.49}, {'connected_gene': 'ENSG00000243155', 'score': 9.89}, {'connected_gene': 'LOC105371638', 'score': 9.66}, {'connected_gene': 'KIAA1614', 'score': 9.66}, {'connected_gene': 'ACBD6', 'score': 9.43}, {'connected_gene': 'GC01M180738', 'score': 0.77}, {'connected_gene': 'ENSG00000206905', 'score': 0.77}]
chr1	GH01I181126	181126239	181132433	1.8	[{'connected_gene': 'LHX4', 'score': 80.02}, {'connected_gene': 'ACBD6', 'score': 42.07}, {'connected_gene': 'KIAA1614', 'score': 20.99}, {'connected_gene': 'IER5', 'score': 16.74}, {'connected_gene': 'MR1', 'score': 12.87}, {'connected_gene': 'GC01M181116', 'score': 0.39}, {'connected_gene': 'LINC01732', 'score': 0.25}]
chr1	GH01I181132	181132710	181137121	1.79	[{'connected_gene': 'LHX4', 'score': 72.28}, {'connected_gene': 'ACBD6', 'score': 20.68}, {'connected_gene': 'IER5', 'score': 15.9}, {'connected_gene': 'KIAA1614', 'score': 11.59}, {'connected_gene': 'MR1', 'score': 1.79}, {'connected_gene': 'STX6', 'score': 1.67}, {'connected_gene': 'GC01M181116', 'score': 0.37}, {'connected_gene': 'LINC01732', 'score': 0.28}]
chr1	GH01I180229	180229368	180230647	1.87	[{'connected_gene': 'LHX4', 'score': 558.85}, {'connected_gene': 'GC01P180228', 'score': 550.77}, {'connected_gene': 'QSOX1', 'score': 5.09}, {'connected_gene': 'GC01P180221', 'score': 0.44}, {'connected_gene': 'PIR35029', 'score': 0.25}]
chr1	GH01I180238	180238831	180240335	0.38	[{'connected_gene': 'LHX4', 'score': 6.49}, {'connected_gene': 'QSOX1', 'score': 5.67}, {'connected_gene': 'GC01P180228', 'score': 0.39}, {'connected_gene': 'GC01P180221', 'score': 0.37}, {'connected_gene': 'PIR35029', 'score': 0.28}]
chr1	GH01I181061	181061401	181064479	1.3	[{'connected_gene': 'LHX4', 'score': 9.79}, {'connected_gene': 'IER5', 'score': 8.02}, {'connected_gene': 'GC01P181059', 'score': 0.77}, {'connected_gene': 'MR1', 'score': 0.31}]
chr1	GH01I180573	180573909	180575204	0.68	[{'connected_gene': 'LHX4', 'score': 6.41}, {'connected_gene': 'OVAAL', 'score': 0.37}, {'connected_gene': 'XPR1', 'score': 0.22}]
chr1	GH01I181120	181120473	181122007	0.59	[{'connected_gene': 'LHX4', 'score': 14.37}, {'connected_gene': 'GC01M181116', 'score': 0.77}, {'connected_gene': 'LINC01732', 'score': 0.23}]
chr1	GH01I181084	181084153	181085034	1.12	[{'connected_gene': 'LHX4', 'score': 10.68}, {'connected_gene': 'MR1P1', 'score': 4.79}, {'connected_gene': 'IER5', 'score': 0.77}, {'connected_gene': 'GC01P181059', 'score': 0.31}]
chr1	GH01I180230	180230747	180231548	1.09	[{'connected_gene': 'LHX4', 'score': 3.07}, {'connected_gene': 'GC01P180228', 'score': 0.77}, {'connected_gene': 'GC01P180221', 'score': 0.44}, {'connected_gene': 'PIR35029', 'score': 0.26}]
chr1	GH01I180231	180231646	180231815	0.68	[{'connected_gene': 'LHX4', 'score': 0.77}, {'connected_gene': 'GC01P180228', 'score': 0.77}, {'connected_gene': 'GC01P180221', 'score': 0.39}, {'connected_gene': 'PIR35029', 'score': 0.26}]
chr1	GH01I180234	180234526	180234675	0.49	[{'connected_gene': 'LHX4', 'score': 0.44}, {'connected_gene': 'GC01P180228', 'score': 0.44}, {'connected_gene': 'GC01P180221', 'score': 0.39}, {'connected_gene': 'PIR35029', 'score': 0.26}]
chr1	GH01I180235	180235986	180236135	0.38	[{'connected_gene': 'LHX4', 'score': 0.44}, {'connected_gene': 'GC01P180228', 'score': 0.44}, {'connected_gene': 'GC01P180221', 'score': 0.39}, {'connected_gene': 'PIR35029', 'score': 0.28}]
chr1	GH01I180584	180584794	180587494	1.47	[{'connected_gene': 'ACBD6', 'score': 18.55}, {'connected_gene': 'LHX4', 'score': 17.42}, {'connected_gene': 'XPR1', 'score': 11.76}, {'connected_gene': 'CEP350', 'score': 10.13}, {'connected_gene': 'MR1', 'score': 2.04}, {'connected_gene': 'OVAAL', 'score': 0.31}]
chr1	GH01I180269	180269501	180272202	1.05	[{'connected_gene': 'ACBD6', 'score': 7.99}, {'connected_gene': 'PIR35029', 'score': 0.77}, {'connected_gene': 'LHX4', 'score': 0.26}, {'connected_gene': 'GC01P180228', 'score': 0.26}, {'connected_gene': 'LHX4-AS1', 'score': 0.07}]
chr1	GH01I180278	180278202	180279820	0.51	[{'connected_gene': 'ACBD6', 'score': 10.81}, {'connected_gene': 'PIR35029', 'score': 0.77}, {'connected_gene': 'LHX4', 'score': 0.23}, {'connected_gene': 'GC01P180228', 'score': 0.23}, {'connected_gene': 'GC01P180360', 'score': 0.18}, {'connected_gene': 'LHX4-AS1', 'score': 0.07}]
chr1	GH01I180500	180500848	180503915	2.13	[{'connected_gene': 'ACBD6', 'score': 562.83}, {'connected_gene': 'LHX4-AS1', 'score': 550.77}, {'connected_gene': 'LHX4', 'score': 31.45}, {'connected_gene': 'CEP350', 'score': 10.13}, {'connected_gene': 'ENSG00000243155', 'score': 8.54}, {'connected_gene': 'GC01M180836', 'score': 0.37}]
chr1	GH01I179292	179292971	179296393	2.08	[{'connected_gene': 'SOAT1', 'score': 560.33}, {'connected_gene': 'GC01P179293', 'score': 550.77}, {'connected_gene': 'TOR3A', 'score': 26.1}, {'connected_gene': 'AXDND1', 'score': 21.66}, {'connected_gene': 'LHX4', 'score': 11.74}, {'connected_gene': 'TDRD5', 'score': 9.61}, {'connected_gene': 'LOC100420262', 'score': 0.39}]
chr1	GH01I180180	180180693	180184792	0.59	[{'connected_gene': 'QSOX1', 'score': 26.82}, {'connected_gene': 'LHX4', 'score': 11.4}, {'connected_gene': 'TOR1AIP1', 'score': 10.58}, {'connected_gene': 'TOR1AIP2', 'score': 10.58}, {'connected_gene': 'PIR48513', 'score': 0.77}, {'connected_gene': 'GC01P180178', 'score': 0.77}, {'connected_gene': 'FLJ23867', 'score': 0.37}]
chr1	GH01I181086	181086765	181098360	2.83	[{'connected_gene': 'IER5', 'score': 568.46}, {'connected_gene': 'PIR40361', 'score': 550.77}, {'connected_gene': 'GC01P181092', 'score': 550.77}, {'connected_gene': 'GC01M181092', 'score': 550.77}, {'connected_gene': 'LHX4', 'score': 33.59}, {'connected_gene': 'MR1', 'score': 12.91}, {'connected_gene': 'STX6', 'score': 3.23}, {'connected_gene': 'GC01M181116', 'score': 0.31}]
chr1	GH01I179880	179880479	179885164	2.35	[{'connected_gene': 'TOR1AIP1', 'score': 550.77}, {'connected_gene': 'ENSG00000272906', 'score': 550.77}, {'connected_gene': 'LHX4', 'score': 75.64}, {'connected_gene': 'TOR3A', 'score': 11.51}, {'connected_gene': 'ACBD6', 'score': 10.72}, {'connected_gene': 'CEP350', 'score': 10.52}, {'connected_gene': 'ENSG00000261831', 'score': 8.93}, {'connected_gene': 'TOR1AIP2', 'score': 4.41}, {'connected_gene': 'FAM163A', 'score': 4.03}, {'connected_gene': 'AXDND1', 'score': 3.86}, {'connected_gene': 'GC01P179900', 'score': 0.37}]
chr1	GH01I181098	181098881	181107032	1.83	[{'connected_gene': 'MR1', 'score': 11.31}, {'connected_gene': 'LHX4', 'score': 9.84}, {'connected_gene': 'IER5', 'score': 2.64}, {'connected_gene': 'XPR1', 'score': 1.29}, {'connected_gene': 'GC01M181116', 'score': 0.39}, {'connected_gene': 'GC01M181092', 'score': 0.39}]
chr1	GH01I179591	179591340	179592468	1.48	[{'connected_gene': 'TDRD5', 'score': 594.88}, {'connected_gene': 'ENSG00000261060', 'score': 563.61}, {'connected_gene': 'GC01M180745', 'score': 550.77}, {'connected_gene': 'GC01M180760', 'score': 550.77}, {'connected_gene': 'PIR31733', 'score': 550.77}, {'connected_gene': 'PIR48368', 'score': 550.77}, {'connected_gene': 'PIR60231', 'score': 550.77}, {'connected_gene': 'LHX4', 'score': 11.74}, {'connected_gene': 'PIRC5', 'score': 0.37}, {'connected_gene': 'FAM163A', 'score': 0.12}]
chr1	GH01I179586	179586001	179586849	1.6	[{'connected_gene': 'LOC126860', 'score': 562.0}, {'connected_gene': 'GC01M180793', 'score': 550.77}, {'connected_gene': 'GC01M180784', 'score': 550.77}, {'connected_gene': 'GC01M180826', 'score': 550.77}, {'connected_gene': 'GC01M180812', 'score': 550.77}, {'connected_gene': 'GC01M180786', 'score': 550.77}, {'connected_gene': 'GC01M180788', 'score': 550.77}, {'connected_gene': 'GC01M180785', 'score': 550.77}, {'connected_gene': 'GC01M180747', 'score': 550.77}, {'connected_gene': 'GC01M180761', 'score': 550.77}, {'connected_gene': 'GC01M180744', 'score': 550.77}, {'connected_gene': 'PIR57675', 'score': 550.77}, {'connected_gene': 'PIR49245', 'score': 550.77}, {'connected_gene': 'GC01M180753', 'score': 550.77}, {'connected_gene': 'GC01M180819', 'score': 550.77}, {'connected_gene': 'GC01M180780', 'score': 550.77}, {'connected_gene': 'GC01M180777', 'score': 550.77}, {'connected_gene': 'PIR39217', 'score': 550.77}, {'connected_gene': 'PIR36055', 'score': 550.77}, {'connected_gene': 'GC01M180824', 'score': 550.77}, {'connected_gene': 'GC01M180804', 'score': 550.77}, {'connected_gene': 'GC01M180732', 'score': 550.77}, {'connected_gene': 'PIR37550', 'score': 550.77}, {'connected_gene': 'GC01M180814', 'score': 550.77}, {'connected_gene': 'PIR53380', 'score': 550.77}, {'connected_gene': 'GC01M180799', 'score': 550.77}, {'connected_gene': 'GC01M180756', 'score': 550.77}, {'connected_gene': 'PIR56683', 'score': 550.77}, {'connected_gene': 'PIR46933', 'score': 550.77}, {'connected_gene': 'GC01M180803', 'score': 550.77}, {'connected_gene': 'GC01M180755', 'score': 550.77}, {'connected_gene': 'GC01M180830', 'score': 550.77}, {'connected_gene': 'GC01M180778', 'score': 550.77}, {'connected_gene': 'GC01M180808', 'score': 550.77}, {'connected_gene': 'GC01M180794', 'score': 550.77}, {'connected_gene': 'PIR48094', 'score': 550.77}, {'connected_gene': 'GC01M180818', 'score': 550.77}, {'connected_gene': 'GC01M180752', 'score': 550.77}, {'connected_gene': 'GC01M180768', 'score': 550.77}, {'connected_gene': 'PIR33097', 'score': 550.77}, {'connected_gene': 'GC01M180813', 'score': 550.77}, {'connected_gene': 'GC01M180825', 'score': 550.77}, {'connected_gene': 'GC01M180743', 'score': 550.77}, {'connected_gene': 'PIR39568', 'score': 550.77}, {'connected_gene': 'PIR59322', 'score': 550.77}, {'connected_gene': 'GC01M180810', 'score': 550.77}, {'connected_gene': 'PIR45414', 'score': 550.77}, {'connected_gene': 'PIR56482', 'score': 550.77}, {'connected_gene': 'GC01M180767', 'score': 550.77}, {'connected_gene': 'PIR35485', 'score': 550.77}, {'connected_gene': 'PIR44596', 'score': 550.77}, {'connected_gene': 'GC01M180758', 'score': 550.77}, {'connected_gene': 'GC01M180766', 'score': 550.77}, {'connected_gene': 'PIR41374', 'score': 550.77}, {'connected_gene': 'PIR31906', 'score': 550.77}, {'connected_gene': 'PIR36176', 'score': 550.77}, {'connected_gene': 'GC01M180829', 'score': 550.77}, {'connected_gene': 'GC01M180771', 'score': 550.77}, {'connected_gene': 'GC01M180795', 'score': 550.77}, {'connected_gene': 'PIR49335', 'score': 550.77}, {'connected_gene': 'GC01M180763', 'score': 550.77}, {'connected_gene': 'PIR44420', 'score': 550.77}, {'connected_gene': 'PIR52910', 'score': 550.77}, {'connected_gene': 'PIR52414', 'score': 550.77}, {'connected_gene': 'PIR49914', 'score': 550.77}, {'connected_gene': 'GC01M180827', 'score': 550.77}, {'connected_gene': 'PIR49331', 'score': 550.77}, {'connected_gene': 'GC01M180751', 'score': 550.77}, {'connected_gene': 'GC01M180828', 'score': 550.77}, {'connected_gene': 'PIR34674', 'score': 550.77}, {'connected_gene': 'PIR49794', 'score': 550.77}, {'connected_gene': 'GC01M180807', 'score': 550.77}, {'connected_gene': 'PIR62864', 'score': 550.77}, {'connected_gene': 'GC01M180765', 'score': 550.77}, {'connected_gene': 'GC01M180742', 'score': 550.77}, {'connected_gene': 'GC01M180811', 'score': 550.77}, {'connected_gene': 'PIR41499', 'score': 550.77}, {'connected_gene': 'GC01M180820', 'score': 550.77}, {'connected_gene': 'GC01M180805', 'score': 550.77}, {'connected_gene': 'PIR46019', 'score': 550.77}, {'connected_gene': 'GC01M180749', 'score': 550.77}, {'connected_gene': 'PIR48309', 'score': 550.77}, {'connected_gene': 'GC01M180806', 'score': 550.77}, {'connected_gene': 'PIR54967', 'score': 550.77}, {'connected_gene': 'PIR38778', 'score': 550.77}, {'connected_gene': 'GC01M180759', 'score': 550.77}, {'connected_gene': 'PIR49296', 'score': 550.77}, {'connected_gene': 'PIR45883', 'score': 550.77}, {'connected_gene': 'GC01M180801', 'score': 550.77}, {'connected_gene': 'PIR61794', 'score': 550.77}, {'connected_gene': 'GC01M180774', 'score': 550.77}, {'connected_gene': 'PIR34439', 'score': 550.77}, {'connected_gene': 'GC01M180791', 'score': 550.77}, {'connected_gene': 'GC01M180748', 'score': 550.77}, {'connected_gene': 'PIR44668', 'score': 550.77}, {'connected_gene': 'GC01M180772', 'score': 550.77}, {'connected_gene': 'TDRD5', 'score': 32.06}, {'connected_gene': 'LHX4', 'score': 11.74}, {'connected_gene': 'AXDND1', 'score': 6.53}, {'connected_gene': 'GC01M180770', 'score': 0.77}, {'connected_gene': 'PIR45286', 'score': 0.77}, {'connected_gene': 'PIRC5', 'score': 0.39}]
chr1	GH01I179364	179364623	179366857	2.07	[{'connected_gene': 'AXDND1', 'score': 591.15}, {'connected_gene': 'GC01P179364', 'score': 550.77}, {'connected_gene': 'LHX4', 'score': 18.81}, {'connected_gene': 'TDRD5', 'score': 17.37}, {'connected_gene': 'RALGPS2', 'score': 9.81}, {'connected_gene': 'SOAT1', 'score': 6.7}, {'connected_gene': 'TOR3A', 'score': 6.27}, {'connected_gene': 'MEF2AP1', 'score': 0.18}]
chr1	GH01I181020	181020937	181024055	2.07	[{'connected_gene': 'STX6', 'score': 550.77}, {'connected_gene': 'LHX4', 'score': 11.84}, {'connected_gene': 'KIAA1614', 'score': 6.21}, {'connected_gene': 'ENSG00000243155', 'score': 0.25}]
chr1	GH01I180921	180921967	180924511	1.16	[{'connected_gene': 'ENSG00000243155', 'score': 11.1}, {'connected_gene': 'LHX4', 'score': 10.68}, {'connected_gene': 'XPR1', 'score': 10.27}, {'connected_gene': 'MR1', 'score': 10.12}, {'connected_gene': 'IER5', 'score': 10.05}, {'connected_gene': 'KIAA1614', 'score': 9.29}, {'connected_gene': 'GC01P180946', 'score': 0.34}]
chr1	GH01I180946	180946125	180949567	0.59	[{'connected_gene': 'ENSG00000243155', 'score': 12.38}, {'connected_gene': 'LHX4', 'score': 10.98}, {'connected_gene': 'MR1', 'score': 10.15}, {'connected_gene': 'CEP350', 'score': 9.73}, {'connected_gene': 'MR1P1', 'score': 6.06}, {'connected_gene': 'GC01P180946', 'score': 0.77}, {'connected_gene': 'KIAA1614-AS1', 'score': 0.44}, {'connected_gene': 'KIAA1614', 'score': 0.29}]
chr1	GH01I181117	181117013	181120350	1.32	[{'connected_gene': 'GC01M181116', 'score': 550.77}, {'connected_gene': 'LHX4', 'score': 34.49}, {'connected_gene': 'LINC01732', 'score': 0.22}]
chr1	GH01I180252	180252726	180252875	0.88	[{'connected_gene': 'PIR35029', 'score': 0.34}, {'connected_gene': 'LHX4', 'score': 0.34}, {'connected_gene': 'GC01P180228', 'score': 0.34}, {'connected_gene': 'GC01P180221', 'score': 0.29}]
chr1	GH01I180268	180268766	180268915	0.2	[{'connected_gene': 'PIR35029', 'score': 0.44}, {'connected_gene': 'LHX4', 'score': 0.26}, {'connected_gene': 'GC01P180228', 'score': 0.26}]
chr1	GH01I180540	180540446	180541360	0.38	[{'connected_gene': 'GC01P180539', 'score': 550.77}, {'connected_gene': 'ACBD6', 'score': 15.42}, {'connected_gene': 'XPR1', 'score': 10.81}, {'connected_gene': 'LHX4', 'score': 5.87}, {'connected_gene': 'OVAAL', 'score': 0.37}]
chr1	GH01I180482	180482401	180483000	0.86	[{'connected_gene': 'GC01M180836', 'score': 550.77}, {'connected_gene': 'ACBD6', 'score': 16.66}, {'connected_gene': 'LHX4', 'score': 11.18}, {'connected_gene': 'LHX4-AS1', 'score': 0.34}, {'connected_gene': 'MIR3121', 'score': 0.26}]
chr1	GH01I181042	181042588	181045569	1.17	[{'connected_gene': 'ENSG00000243155', 'score': 10.23}, {'connected_gene': 'KIAA1614', 'score': 9.45}, {'connected_gene': 'LHX4', 'score': 4.97}, {'connected_gene': 'MR1', 'score': 0.39}, {'connected_gene': 'GC01P181059', 'score': 0.37}]