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
ENST00000487556	[[43282794, 43282924], [43291293, 43291409], [43300708, 43300825], [43301402, 43301431], [43302828, 43302861], [43304571, 43304592], [43305703, 43305724], [43305822, 43305849], [43305940, 43305967], [43308187, 43310654]]	None
ENST00000372517	[[43282801, 43282924], [43291293, 43291409], [43296114, 43296204], [43296438, 43296786], [43300708, 43300825], [43301402, 43301435], [43302828, 43302861], [43304571, 43304592], [43305703, 43305724], [43305822, 43305849], [43305940, 43305967], [43308187, 43310654]]	[[43296119, 43296204], [43296438, 43296786], [43300708, 43300825], [43301402, 43301435], [43302828, 43302861], [43304571, 43304592], [43305703, 43305724], [43305822, 43305849], [43305940, 43305967], [43308187, 43308903]]
ENST00000470938	[[43290106, 43290423], [43291293, 43291461]]	None
ENST00000372514	[[43291230, 43291409], [43296114, 43296204], [43296438, 43296786], [43300708, 43300825], [43301402, 43301435], [43302828, 43302861], [43304571, 43304592], [43305703, 43305724], [43305822, 43305849], [43305940, 43305967], [43308187, 43310660]]	[[43296119, 43296204], [43296438, 43296786], [43300708, 43300825], [43301402, 43301435], [43302828, 43302861], [43304571, 43304592], [43305703, 43305724], [43305822, 43305849], [43305940, 43305967], [43308187, 43308903]]
ENST00000328249	[[43295585, 43296786], [43300708, 43300825], [43301402, 43301435], [43302828, 43302861], [43304571, 43304592], [43305703, 43305724], [43305822, 43305849], [43305940, 43305967], [43308187, 43310656]]	[[43296623, 43296786], [43300708, 43300825], [43301402, 43301435], [43302828, 43302861], [43304571, 43304592], [43305703, 43305724], [43305822, 43305849], [43305940, 43305967], [43308187, 43308903]]
NM_001017922	[[43282775, 43282924], [43291293, 43291409], [43296114, 43296204], [43296438, 43296786], [43300708, 43300825], [43301402, 43301435], [43302828, 43302861], [43304571, 43304592], [43305703, 43305724], [43305822, 43305849], [43305940, 43305967], [43308187, 43310660]]	[[43296119, 43296204], [43296438, 43296786], [43300708, 43300825], [43301402, 43301435], [43302828, 43302861], [43304571, 43304592], [43305703, 43305724], [43305822, 43305849], [43305940, 43305967], [43308187, 43308903]]
NM_018538	[[43291248, 43291409], [43296114, 43296204], [43296438, 43296786], [43300708, 43300825], [43301402, 43301435], [43302828, 43302861], [43304571, 43304592], [43305703, 43305724], [43305822, 43305849], [43305940, 43305967], [43308187, 43310660]]	[[43296119, 43296204], [43296438, 43296786], [43300708, 43300825], [43301402, 43301435], [43302828, 43302861], [43304571, 43304592], [43305703, 43305724], [43305822, 43305849], [43305940, 43305967], [43308187, 43308903]]

Promoter

Chrom	Start	End	Description
chr1	43282782	43282812	CAGE_peak_1_at_ERMAP_5end
chr1	43291183	43291195	CAGE_peak_5_at_ERMAP_5end
chr1	43291220	43291239	CAGE_peak_2_at_ERMAP_5end
chr1	43291246	43291264	CAGE_peak_4_at_ERMAP_5end
chr1	43291273	43291307	CAGE_peak_3_at_ERMAP_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I043709	43709772	43713297	1.04	[{'connected_gene': 'ARTN', 'score': 11.51}, {'connected_gene': 'LOC101929592', 'score': 8.48}, {'connected_gene': 'ATP6V0B', 'score': 7.01}, {'connected_gene': 'ERMAP', 'score': 5.09}, {'connected_gene': 'SZT2', 'score': 1.3}, {'connected_gene': 'ENSG00000283414', 'score': 0.77}, {'connected_gene': 'KDM4A-AS1', 'score': 0.77}, {'connected_gene': 'ST3GAL3', 'score': 0.44}, {'connected_gene': 'GC01M043702', 'score': 0.37}]
chr1	GH01I042949	42949002	42964628	2.79	[{'connected_gene': 'SLC2A1', 'score': 567.66}, {'connected_gene': 'SLC2A1-AS1', 'score': 42.16}, {'connected_gene': 'SZT2', 'score': 20.73}, {'connected_gene': 'ARTN', 'score': 18.86}, {'connected_gene': 'PPIH', 'score': 13.28}, {'connected_gene': 'P3H1', 'score': 12.74}, {'connected_gene': 'MED8', 'score': 12.58}, {'connected_gene': 'RNU6-880P', 'score': 12.09}, {'connected_gene': 'ERMAP', 'score': 12.08}, {'connected_gene': 'LOC101929609', 'score': 12.05}, {'connected_gene': 'KDM4A-AS1', 'score': 11.14}, {'connected_gene': 'KDM4A', 'score': 10.02}, {'connected_gene': 'CLDN19', 'score': 3.67}, {'connected_gene': 'SVBP', 'score': 1.79}, {'connected_gene': 'ENSG00000284138', 'score': 0.77}, {'connected_gene': 'ENSG00000283973', 'score': 0.44}]
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	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	GH01I042818	42818607	42819588	0.87	[{'connected_gene': 'SVBP', 'score': 557.79}, {'connected_gene': 'ERMAP', 'score': 550.77}, {'connected_gene': 'ZNF691', 'score': 11.45}, {'connected_gene': 'ENSG00000228192', 'score': 11.45}, {'connected_gene': 'P3H1', 'score': 7.66}]
chr1	GH01I042815	42815791	42818326	1.99	[{'connected_gene': 'SVBP', 'score': 588.77}, {'connected_gene': 'ERMAP', 'score': 550.77}, {'connected_gene': 'PPIH', 'score': 16.34}, {'connected_gene': 'ZNF691', 'score': 11.45}, {'connected_gene': 'ENSG00000228192', 'score': 11.45}, {'connected_gene': 'P3H1', 'score': 7.67}, {'connected_gene': 'SLC2A1-AS1', 'score': 4.47}, {'connected_gene': 'GC01M042733', 'score': 0.39}, {'connected_gene': 'TMEM269', 'score': 0.29}]
chr1	GH01I042829	42829419	42829478	0.61	[{'connected_gene': 'SVBP', 'score': 550.39}, {'connected_gene': 'ERMAP', 'score': 0.39}, {'connected_gene': 'ENSG00000228192', 'score': 0.37}]
chr1	GH01I042830	42830213	42831577	0.59	[{'connected_gene': 'SVBP', 'score': 38.03}, {'connected_gene': 'PPIH', 'score': 14.84}, {'connected_gene': 'ERMAP', 'score': 0.39}, {'connected_gene': 'ENSG00000228192', 'score': 0.37}]
chr1	GH01I042823	42823150	42823299	1.04	[{'connected_gene': 'SZT2', 'score': 19.1}, {'connected_gene': 'ZNF691', 'score': 11.48}, {'connected_gene': 'ENSG00000228192', 'score': 11.48}, {'connected_gene': 'PPIH', 'score': 10.03}, {'connected_gene': 'SVBP', 'score': 0.44}, {'connected_gene': 'ERMAP', 'score': 0.44}]
chr1	GH01I042824	42824340	42826346	1.69	[{'connected_gene': 'ERMAP', 'score': 550.44}, {'connected_gene': 'ZNF691', 'score': 11.13}, {'connected_gene': 'ENSG00000228192', 'score': 11.13}, {'connected_gene': 'P3H1', 'score': 10.1}, {'connected_gene': 'C1orf50', 'score': 10.1}, {'connected_gene': 'KDM4A', 'score': 10.02}, {'connected_gene': 'SVBP', 'score': 9.52}, {'connected_gene': 'SZT2', 'score': 8.94}]
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}]