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
ENST00000215565	[[14676889, 14677077], [14677576, 14677745], [14682700, 14682874]]	[[14676944, 14677077], [14677576, 14677745], [14682700, 14682812]]
ENST00000593353	[[14676889, 14677077], [14677576, 14677743], [14682700, 14682874]]	[[14677642, 14677743], [14682700, 14682812]]
NM_004146	[[14676889, 14677077], [14677576, 14677745], [14682700, 14682889]]	[[14676944, 14677077], [14677576, 14677745], [14682700, 14682812]]

Promoter

Chrom	Start	End	Description
chr19	14682819	14682830	CAGE_peak_2_at_NDUFB7_5end
chr19	14682838	14682894	CAGE_peak_1_at_NDUFB7_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I014683	14683400	14683801	0.66	[{'connected_gene': 'ADGRE3', 'score': 31.69}, {'connected_gene': 'NDUFB7', 'score': 12.21}, {'connected_gene': 'ADGRE5', 'score': 3.69}, {'connected_gene': 'PKN1', 'score': 3.4}, {'connected_gene': 'ZNF333', 'score': 1.88}, {'connected_gene': 'ENSG00000275432', 'score': 0.22}]
chr19	GH19I014689	14689001	14691001	1.96	[{'connected_gene': 'ZNF333', 'score': 565.94}, {'connected_gene': 'ADGRE3', 'score': 550.77}, {'connected_gene': 'NDUFB7', 'score': 11.8}]
chr19	GH19I014573	14573829	14575241	1.4	[{'connected_gene': 'ZNF333', 'score': 12.7}, {'connected_gene': 'NDUFB7', 'score': 0.77}, {'connected_gene': 'CLEC17A', 'score': 0.44}]
chr19	GH19I014575	14575709	14575858	0.43	[{'connected_gene': 'ZNF333', 'score': 12.71}, {'connected_gene': 'NDUFB7', 'score': 0.77}, {'connected_gene': 'CLEC17A', 'score': 0.44}]
chr19	GH19I014576	14576034	14579872	0.7	[{'connected_gene': 'ZNF333', 'score': 12.71}, {'connected_gene': 'CLEC17A', 'score': 6.23}, {'connected_gene': 'NDUFB7', 'score': 0.44}]
chr19	GH19I014432	14432600	14435937	2.23	[{'connected_gene': 'PKN1', 'score': 556.41}, {'connected_gene': 'AKAP8', 'score': 14.72}, {'connected_gene': 'MRI1', 'score': 14.09}, {'connected_gene': 'CCDC130', 'score': 14.07}, {'connected_gene': 'ZNF333', 'score': 11.29}, {'connected_gene': 'LINC01842', 'score': 4.57}, {'connected_gene': 'NDUFB7', 'score': 1.43}, {'connected_gene': 'ENSG00000267474', 'score': 0.34}]
chr19	GH19I014558	14558042	14565160	1.2	[{'connected_gene': 'NDUFB7', 'score': 6.05}, {'connected_gene': 'DNAJB1', 'score': 0.29}, {'connected_gene': 'TECR', 'score': 0.26}]
chr19	GH19I014566	14566869	14567018	0.2	[{'connected_gene': 'NDUFB7', 'score': 0.44}, {'connected_gene': 'DNAJB1', 'score': 0.28}]
chr19	GH19I014546	14544627	14546955	0.83	[{'connected_gene': 'NDUFB7', 'score': 12.91}, {'connected_gene': 'GIPC1', 'score': 11.75}, {'connected_gene': 'TECR', 'score': 5.73}, {'connected_gene': 'SLC1A6', 'score': 5.12}, {'connected_gene': 'DNAJB1', 'score': 0.37}]
chr19	GH19I014544	14544013	14544176	0.52	[{'connected_gene': 'NDUFB7', 'score': 12.91}, {'connected_gene': 'GIPC1', 'score': 11.75}, {'connected_gene': 'TECR', 'score': 5.79}, {'connected_gene': 'DNAJB1', 'score': 0.39}]
chr19	GH19I014542	14542334	14543401	0.92	[{'connected_gene': 'NDUFB7', 'score': 12.91}, {'connected_gene': 'GIPC1', 'score': 11.75}, {'connected_gene': 'TECR', 'score': 6.09}, {'connected_gene': 'LOC100507373', 'score': 5.1}, {'connected_gene': 'DNAJB1', 'score': 0.39}]
chr19	GH19I014545	14544318	14544418	0.72	[{'connected_gene': 'NDUFB7', 'score': 12.91}, {'connected_gene': 'GIPC1', 'score': 11.75}, {'connected_gene': 'DNAJB1', 'score': 0.39}, {'connected_gene': 'TECR', 'score': 0.31}]
chr19	GH19I014541	14541419	14541791	0.31	[{'connected_gene': 'NDUFB7', 'score': 12.89}, {'connected_gene': 'GIPC1', 'score': 11.75}, {'connected_gene': 'LOC100507373', 'score': 5.62}, {'connected_gene': 'DNAJB1', 'score': 0.39}, {'connected_gene': 'TECR', 'score': 0.34}]
chr19	GH19I014570	14570875	14572718	2.09	[{'connected_gene': 'NDUFB7', 'score': 556.83}, {'connected_gene': 'AKAP8', 'score': 16.14}, {'connected_gene': 'CCDC130', 'score': 15.49}, {'connected_gene': 'DDX39A', 'score': 15.4}, {'connected_gene': 'DCAF15', 'score': 13.88}, {'connected_gene': 'BRD4', 'score': 12.46}, {'connected_gene': 'RFX1', 'score': 12.22}, {'connected_gene': 'ENSG00000268189', 'score': 11.98}, {'connected_gene': 'WIZ', 'score': 10.81}, {'connected_gene': 'DNAJB1', 'score': 0.26}]
chr19	GH19I014580	14580789	14580938	0.8	[{'connected_gene': 'CLEC17A', 'score': 6.62}, {'connected_gene': 'NDUFB7', 'score': 0.44}]
chr19	GH19I014550	14550001	14555198	1.64	[{'connected_gene': 'LOC284454', 'score': 14.19}, {'connected_gene': 'CCDC130', 'score': 13.68}, {'connected_gene': 'RFX1', 'score': 10.28}, {'connected_gene': 'AKAP8L', 'score': 10.23}, {'connected_gene': 'MRI1', 'score': 10.18}, {'connected_gene': 'AKAP8', 'score': 10.07}, {'connected_gene': 'SLC1A6', 'score': 7.52}, {'connected_gene': 'OR7C2', 'score': 3.49}, {'connected_gene': 'NDUFB7', 'score': 0.37}, {'connected_gene': 'DNAJB1', 'score': 0.34}, {'connected_gene': 'TECR', 'score': 0.28}]
chr19	GH19I014536	14536521	14538519	1.05	[{'connected_gene': 'GIPC1', 'score': 12.15}, {'connected_gene': 'TECR', 'score': 5.71}, {'connected_gene': 'DNAJB1', 'score': 0.44}, {'connected_gene': 'NDUFB7', 'score': 0.29}]
chr19	GH19I014535	14535688	14536309	0.31	[{'connected_gene': 'GIPC1', 'score': 12.16}, {'connected_gene': 'TECR', 'score': 5.55}, {'connected_gene': 'DNAJB1', 'score': 0.44}, {'connected_gene': 'NDUFB7', 'score': 0.28}]
chr19	GH19I014531	14531732	14534134	0.72	[{'connected_gene': 'GIPC1', 'score': 12.16}, {'connected_gene': 'TECR', 'score': 5.77}, {'connected_gene': 'DNAJB1', 'score': 0.77}, {'connected_gene': 'NDUFB7', 'score': 0.28}]
chr19	GH19I014555	14555535	14557398	1.36	[{'connected_gene': 'AKAP8', 'score': 75.37}, {'connected_gene': 'CCDC130', 'score': 69.43}, {'connected_gene': 'MRI1', 'score': 44.94}, {'connected_gene': 'RFX1', 'score': 37.78}, {'connected_gene': 'BRD4', 'score': 36.33}, {'connected_gene': 'ZNF333', 'score': 31.8}, {'connected_gene': 'DCAF15', 'score': 23.92}, {'connected_gene': 'DDX39A', 'score': 21.0}, {'connected_gene': 'AKAP8L', 'score': 18.27}, {'connected_gene': 'SNRPGP15', 'score': 10.0}, {'connected_gene': 'NDUFB7', 'score': 5.45}, {'connected_gene': 'DNAJB1', 'score': 0.31}, {'connected_gene': 'TECR', 'score': 0.28}]