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
ENST00000321358	[[43148097, 43148402], [43149073, 43149137], [43159160, 43159194], [43161869, 43161959], [43162312, 43162615], [43162850, 43162933], [43166451, 43166717], [43167651, 43168020]]	[[43148236, 43148402], [43149073, 43149137], [43159160, 43159194], [43161869, 43161959], [43162312, 43162615], [43162850, 43162933], [43166451, 43166686]]
ENST00000332220	[[43148110, 43148402], [43149073, 43149137], [43159160, 43159194], [43162312, 43162615], [43162850, 43162933]]	[[43148236, 43148402], [43149073, 43149137], [43159160, 43159194], [43162312, 43162615], [43162850, 43162933]]
ENST00000436427	[[43148657, 43149036], [43159160, 43159194], [43161869, 43161959], [43162312, 43162615], [43162850, 43162933], [43166451, 43166717], [43167651, 43168020]]	[[43148657, 43149036], [43159160, 43159194], [43161869, 43161959], [43162312, 43162615], [43162850, 43162933], [43166451, 43166686]]
ENST00000467957	[[43148826, 43149137], [43159160, 43159194], [43161869, 43161959], [43162312, 43162615], [43162850, 43162882]]	None
NM_004559	[[43147905, 43148402], [43149073, 43149137], [43159160, 43159194], [43161869, 43161959], [43162312, 43162615], [43162850, 43162933], [43166451, 43166717], [43167651, 43169474]]	[[43148236, 43148402], [43149073, 43149137], [43159160, 43159194], [43161869, 43161959], [43162312, 43162615], [43162850, 43162933], [43166451, 43166686]]
NR_132737	[[43148657, 43149036], [43159160, 43159194], [43161869, 43161959], [43162312, 43162615], [43162850, 43162933], [43166451, 43166717], [43167651, 43169474]]	None

Promoter

Chrom	Start	End	Description
chr1	43147814	43147820	CAGE_peak_20_at_YBX1_5end
chr1	43147829	43147842	CAGE_peak_15_at_YBX1_5end
chr1	43147846	43147862	CAGE_peak_17_at_YBX1_5end
chr1	43147867	43147894	CAGE_peak_10_at_YBX1_5end
chr1	43148029	43148040	CAGE_peak_7_at_YBX1_5end
chr1	43148059	43148108	CAGE_peak_1_at_YBX1_5end
chr1	43148244	43148275	CAGE_peak_5_at_YBX1_5end
chr1	43148625	43148710	CAGE_peak_3_at_YBX1_5end
chr1	43148716	43148756	CAGE_peak_6_at_YBX1_5end
chr1	43148792	43148849	CAGE_peak_2_at_YBX1_5end
chr1	43148855	43148908	CAGE_peak_4_at_YBX1_5end
chr1	43162358	43162369	CAGE_peak_11_at_YBX1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I042430	42430513	42432181	0.59	[{'connected_gene': 'ZMYND12', 'score': 25.89}, {'connected_gene': 'PPCS', 'score': 10.99}, {'connected_gene': 'RNU6-536P', 'score': 10.56}, {'connected_gene': 'ENSG00000236180', 'score': 10.56}, {'connected_gene': 'CCDC30', 'score': 10.4}, {'connected_gene': 'P3H1', 'score': 9.28}, {'connected_gene': 'YBX1', 'score': 8.87}, {'connected_gene': 'PIR31959', 'score': 0.39}]
chr1	GH01I042339	42339364	42341449	0.9	[{'connected_gene': 'ZMYND12', 'score': 14.96}, {'connected_gene': 'P3H1', 'score': 10.32}, {'connected_gene': 'RNU6-536P', 'score': 10.21}, {'connected_gene': 'ENSG00000236180', 'score': 10.2}, {'connected_gene': 'PPCS', 'score': 10.08}, {'connected_gene': 'GUCA2B', 'score': 9.95}, {'connected_gene': 'PPIH', 'score': 9.53}, {'connected_gene': 'YBX1', 'score': 9.46}, {'connected_gene': 'CCDC30', 'score': 9.43}, {'connected_gene': 'ENSG00000227527', 'score': 0.77}, {'connected_gene': 'GC01M042316', 'score': 0.34}]
chr1	GH01I042419	42419186	42421801	0.74	[{'connected_gene': 'ZMYND12', 'score': 24.65}, {'connected_gene': 'SVBP', 'score': 16.83}, {'connected_gene': 'PPIH', 'score': 13.84}, {'connected_gene': 'PPCS', 'score': 10.76}, {'connected_gene': 'RNU6-536P', 'score': 10.67}, {'connected_gene': 'ENSG00000236180', 'score': 10.66}, {'connected_gene': 'CLDN19', 'score': 9.92}, {'connected_gene': 'YBX1', 'score': 9.43}, {'connected_gene': 'PIR31959', 'score': 0.77}, {'connected_gene': 'RIMKLA', 'score': 0.28}]
chr1	GH01I042440	42440030	42440219	0.64	[{'connected_gene': 'CCDC30', 'score': 11.14}, {'connected_gene': 'RNU6-536P', 'score': 10.21}, {'connected_gene': 'ENSG00000236180', 'score': 10.2}, {'connected_gene': 'PPIH', 'score': 9.78}, {'connected_gene': 'YBX1', 'score': 9.48}, {'connected_gene': 'PPCS', 'score': 0.37}, {'connected_gene': 'ZMYND12', 'score': 0.37}, {'connected_gene': 'PIR31959', 'score': 0.34}]
chr1	GH01I042737	42737143	42737800	0.63	[{'connected_gene': 'P3H1', 'score': 12.01}, {'connected_gene': 'C1orf50', 'score': 11.58}, {'connected_gene': 'YBX1', 'score': 10.31}, {'connected_gene': 'CLDN19', 'score': 0.77}, {'connected_gene': 'GC01M042732', 'score': 0.39}, {'connected_gene': 'GC01M042747', 'score': 0.39}, {'connected_gene': 'GC01P042719', 'score': 0.37}, {'connected_gene': 'GC01M042733', 'score': 0.2}]
chr1	GH01I042845	42845768	42848146	2.05	[{'connected_gene': 'ZNF691', 'score': 556.71}, {'connected_gene': 'ENSG00000228192', 'score': 550.77}, {'connected_gene': 'SZT2', 'score': 24.51}, {'connected_gene': 'FOXJ3', 'score': 22.87}, {'connected_gene': 'YBX1', 'score': 16.52}, {'connected_gene': 'CCDC30', 'score': 10.08}, {'connected_gene': 'PPIH', 'score': 9.84}, {'connected_gene': 'ERMAP', 'score': 9.78}, {'connected_gene': 'PIR46792', 'score': 0.39}]
chr1	GH01I042680	42680504	42684556	2.08	[{'connected_gene': 'YBX1', 'score': 550.77}, {'connected_gene': 'SZT2', 'score': 59.39}, {'connected_gene': 'PPIH', 'score': 38.8}, {'connected_gene': 'P3H1', 'score': 25.2}, {'connected_gene': 'SVBP', 'score': 14.71}, {'connected_gene': 'MED8', 'score': 12.56}, {'connected_gene': 'ZNF691', 'score': 11.75}, {'connected_gene': 'FOXJ3', 'score': 11.56}, {'connected_gene': 'KDM4A', 'score': 11.5}, {'connected_gene': 'HYI', 'score': 10.5}, {'connected_gene': 'CLDN19', 'score': 4.12}, {'connected_gene': 'ENSG00000234917', 'score': 0.77}, {'connected_gene': 'GC01P042719', 'score': 0.28}]
chr1	GH01I042688	42688812	42688819	0.2	[{'connected_gene': 'YBX1', 'score': 0.44}, {'connected_gene': 'GC01P042719', 'score': 0.29}]
chr1	GH01I042687	42686490	42686639	0.73	[{'connected_gene': 'YBX1', 'score': 0.77}, {'connected_gene': 'GC01P042719', 'score': 0.29}]
chr1	GH01I042929	42929870	42948855	1.79	[{'connected_gene': 'SLC2A1-AS1', 'score': 41.65}, {'connected_gene': 'HYI', 'score': 13.36}, {'connected_gene': 'SZT2', 'score': 12.58}, {'connected_gene': 'ARTN', 'score': 12.4}, {'connected_gene': 'RNU6-880P', 'score': 11.5}, {'connected_gene': 'FOXJ3', 'score': 10.04}, {'connected_gene': 'C1orf210', 'score': 6.68}, {'connected_gene': 'ERMAP', 'score': 3.31}, {'connected_gene': 'CCDC30', 'score': 3.18}, {'connected_gene': 'YBX1', 'score': 1.86}, {'connected_gene': 'SVBP', 'score': 1.77}, {'connected_gene': 'SLC2A1', 'score': 1.53}, {'connected_gene': 'ENSG00000284138', 'score': 0.39}, {'connected_gene': 'ATP6V1E1P1', 'score': 0.28}]
chr1	GH01I042686	42686830	42686979	0.65	[{'connected_gene': 'SVBP', 'score': 14.81}, {'connected_gene': 'YBX1', 'score': 0.77}, {'connected_gene': 'GC01P042719', 'score': 0.29}]
chr1	GH01I042598	42598054	42598425	0.34	[{'connected_gene': 'SVBP', 'score': 18.89}, {'connected_gene': 'RNU6-536P', 'score': 11.11}, {'connected_gene': 'ENSG00000236180', 'score': 11.11}, {'connected_gene': 'PPIH', 'score': 10.57}, {'connected_gene': 'P3H1', 'score': 10.28}, {'connected_gene': 'YBX1', 'score': 10.05}, {'connected_gene': 'CLDN19', 'score': 10.01}, {'connected_gene': 'CCDC30', 'score': 1.9}, {'connected_gene': 'RIMKLA', 'score': 1.23}, {'connected_gene': 'GC01M042626', 'score': 0.29}]
chr1	GH01I042689	42689711	42694665	0.72	[{'connected_gene': 'SVBP', 'score': 13.78}, {'connected_gene': 'PPIH', 'score': 13.51}, {'connected_gene': 'C1orf50', 'score': 9.99}, {'connected_gene': 'ZMYND12', 'score': 7.0}, {'connected_gene': 'YBX1', 'score': 0.44}, {'connected_gene': 'GC01P042719', 'score': 0.31}]
chr1	GH01I042222	42222189	42222919	0.82	[{'connected_gene': 'GUCA2B', 'score': 11.04}, {'connected_gene': 'PPCS', 'score': 9.99}, {'connected_gene': 'ZMYND12', 'score': 9.99}, {'connected_gene': 'YBX1', 'score': 9.22}, {'connected_gene': 'GC01P042164', 'score': 0.22}, {'connected_gene': 'GC01M042279', 'score': 0.22}, {'connected_gene': 'PIR49391', 'score': 0.22}, {'connected_gene': 'FOXJ3', 'score': 0.14}]
chr1	GH01I042333	42333201	42337730	2.14	[{'connected_gene': 'FOXJ3', 'score': 568.35}, {'connected_gene': 'GC01P042336', 'score': 550.77}, {'connected_gene': 'GC01P042337', 'score': 550.77}, {'connected_gene': 'CCDC30', 'score': 30.13}, {'connected_gene': 'P3H1', 'score': 20.52}, {'connected_gene': 'PPIH', 'score': 19.45}, {'connected_gene': 'CLDN19', 'score': 10.41}, {'connected_gene': 'GUCA2B', 'score': 10.34}, {'connected_gene': 'RNU6-536P', 'score': 9.85}, {'connected_gene': 'ENSG00000236180', 'score': 9.85}, {'connected_gene': 'LOC105378683', 'score': 9.73}, {'connected_gene': 'YBX1', 'score': 9.5}, {'connected_gene': 'EDN2', 'score': 4.3}, {'connected_gene': 'ENSG00000227527', 'score': 0.77}, {'connected_gene': 'GC01M042316', 'score': 0.31}, {'connected_gene': 'GC01M042279', 'score': 0.22}, {'connected_gene': 'PIR49391', 'score': 0.22}]
chr1	GH01I042308	42308997	42309130	0.23	[{'connected_gene': 'RNU6-536P', 'score': 10.44}, {'connected_gene': 'ENSG00000236180', 'score': 10.44}, {'connected_gene': 'YBX1', 'score': 9.39}, {'connected_gene': 'PPIH', 'score': 9.12}, {'connected_gene': 'FOXJ3', 'score': 7.38}, {'connected_gene': 'RIMKLA', 'score': 1.7}, {'connected_gene': 'CCDC30', 'score': 1.67}, {'connected_gene': 'ZMYND12', 'score': 1.19}, {'connected_gene': 'GC01M042279', 'score': 0.29}, {'connected_gene': 'PIR49391', 'score': 0.29}]
chr1	GH01I042484	42484332	42485139	0.46	[{'connected_gene': 'PPIH', 'score': 25.76}, {'connected_gene': 'ZMYND12', 'score': 21.8}, {'connected_gene': 'CCDC30', 'score': 15.02}, {'connected_gene': 'PPCS', 'score': 10.9}, {'connected_gene': 'RNU6-536P', 'score': 10.86}, {'connected_gene': 'ENSG00000236180', 'score': 10.85}, {'connected_gene': 'CLDN19', 'score': 9.5}, {'connected_gene': 'YBX1', 'score': 9.35}, {'connected_gene': 'RPS3AP11', 'score': 0.44}]
chr1	GH01I042735	42735510	42735659	0.31	[{'connected_gene': 'PPIH', 'score': 16.22}, {'connected_gene': 'P3H1', 'score': 11.99}, {'connected_gene': 'C1orf50', 'score': 11.56}, {'connected_gene': 'YBX1', 'score': 10.32}, {'connected_gene': 'CLDN19', 'score': 0.77}, {'connected_gene': 'GC01M042732', 'score': 0.39}, {'connected_gene': 'GC01M042747', 'score': 0.39}, {'connected_gene': 'GC01P042719', 'score': 0.37}, {'connected_gene': 'GC01M042733', 'score': 0.19}]
chr1	GH01I042784	42784682	42785800	0.66	[{'connected_gene': 'TMEM269', 'score': 550.77}, {'connected_gene': 'LOC105378683', 'score': 550.77}, {'connected_gene': 'SVBP', 'score': 38.22}, {'connected_gene': 'ZMYND12', 'score': 25.46}, {'connected_gene': 'CFAP57', 'score': 16.3}, {'connected_gene': 'YBX1', 'score': 4.7}, {'connected_gene': 'ENSG00000283580', 'score': 0.37}, {'connected_gene': 'GC01M042733', 'score': 0.34}]
chr1	GH01I042806	42806881	42808076	0.38	[{'connected_gene': 'GC01M042733', 'score': 550.77}, {'connected_gene': 'P3H1', 'score': 11.33}, {'connected_gene': 'ZNF691', 'score': 10.47}, {'connected_gene': 'ENSG00000228192', 'score': 10.47}, {'connected_gene': 'YBX1', 'score': 9.56}, {'connected_gene': 'SVBP', 'score': 5.16}, {'connected_gene': 'ERMAP', 'score': 0.44}, {'connected_gene': 'TMEM269', 'score': 0.34}]
chr1	GH01I042720	42720718	42721460	0.43	[{'connected_gene': 'GC01P042719', 'score': 550.77}, {'connected_gene': 'P3H1', 'score': 18.47}, {'connected_gene': 'PPIH', 'score': 10.93}, {'connected_gene': 'YBX1', 'score': 10.78}, {'connected_gene': 'CLDN19', 'score': 0.37}]
chr1	GH01I042678	42678972	42680264	0.49	[{'connected_gene': 'ENSG00000234917', 'score': 550.77}, {'connected_gene': 'SVBP', 'score': 14.81}, {'connected_gene': 'PPIH', 'score': 4.6}, {'connected_gene': 'YBX1', 'score': 0.77}]