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
ENST00000591899	[[1597170, 1598214], [1599410, 1599559], [1605358, 1605480]]	[[1599438, 1599559], [1605358, 1605408]]
ENST00000593264	[[1598047, 1598214], [1599410, 1599559], [1602035, 1602128]]	None
ENST00000589880	[[1598047, 1598325], [1599410, 1599559], [1605358, 1605435]]	[[1599438, 1599559], [1605358, 1605408]]
ENST00000593029	[[1598047, 1598214], [1599410, 1599559], [1602292, 1602425], [1605358, 1605442]]	None
ENST00000585671	[[1598919, 1599559], [1605358, 1605471]]	[[1599438, 1599559], [1605358, 1605408]]
NM_006830	[[1597153, 1598214], [1599410, 1599559], [1605358, 1605483]]	[[1599438, 1599559], [1605358, 1605408]]

Promoter

Chrom	Start	End	Description
chr19	1605424	1605474	CAGE_peak_1_at_UQCR11_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I001647	1647146	1653766	2.31	[{'connected_gene': 'TCF3', 'score': 592.67}, {'connected_gene': 'SF3A2', 'score': 52.48}, {'connected_gene': 'LOC100288123', 'score': 38.58}, {'connected_gene': 'DAZAP1', 'score': 36.5}, {'connected_gene': 'DOT1L', 'score': 32.16}, {'connected_gene': 'TMEM259', 'score': 30.38}, {'connected_gene': 'STK11', 'score': 24.52}, {'connected_gene': 'CIRBP', 'score': 23.19}, {'connected_gene': 'AP3D1', 'score': 22.94}, {'connected_gene': 'MUM1', 'score': 22.46}, {'connected_gene': 'ATP8B3', 'score': 21.52}, {'connected_gene': 'GRIN3B', 'score': 20.44}, {'connected_gene': 'SPPL2B', 'score': 20.03}, {'connected_gene': 'CSNK1G2', 'score': 19.68}, {'connected_gene': 'MED16', 'score': 19.24}, {'connected_gene': 'PTBP1', 'score': 16.58}, {'connected_gene': 'ENSG00000267317', 'score': 14.21}, {'connected_gene': 'UQCR11', 'score': 12.76}, {'connected_gene': 'WDR18', 'score': 12.53}, {'connected_gene': 'RPS15', 'score': 11.85}, {'connected_gene': 'ENSG00000268798', 'score': 11.77}, {'connected_gene': 'PALM', 'score': 11.6}, {'connected_gene': 'PLK5', 'score': 10.78}, {'connected_gene': 'LMNB2', 'score': 10.08}, {'connected_gene': 'BTBD2', 'score': 10.07}, {'connected_gene': 'C19orf24', 'score': 9.92}, {'connected_gene': 'RNF126', 'score': 9.89}, {'connected_gene': 'GC19M001626', 'score': 0.37}]
chr19	GH19I001406	1406078	1419581	2.79	[{'connected_gene': 'DAZAP1', 'score': 571.85}, {'connected_gene': 'TCF3', 'score': 51.42}, {'connected_gene': 'SF3A2', 'score': 49.4}, {'connected_gene': 'TMEM259', 'score': 46.61}, {'connected_gene': 'PTBP1', 'score': 36.05}, {'connected_gene': 'LOC100288123', 'score': 35.55}, {'connected_gene': 'GRIN3B', 'score': 28.03}, {'connected_gene': 'RPS15', 'score': 24.67}, {'connected_gene': 'ENSG00000267317', 'score': 23.62}, {'connected_gene': 'CIRBP', 'score': 23.26}, {'connected_gene': 'MED16', 'score': 21.37}, {'connected_gene': 'ATP8B3', 'score': 11.98}, {'connected_gene': 'CSNK1G2', 'score': 11.2}, {'connected_gene': 'DOT1L', 'score': 10.77}, {'connected_gene': 'SPPL2B', 'score': 10.22}, {'connected_gene': 'CNN2', 'score': 10.03}, {'connected_gene': 'C19orf24', 'score': 9.98}, {'connected_gene': 'RNF126', 'score': 9.89}, {'connected_gene': 'SBNO2', 'score': 9.84}, {'connected_gene': 'POLR2E', 'score': 3.99}, {'connected_gene': 'GPX4', 'score': 3.17}, {'connected_gene': 'REXO1', 'score': 1.97}, {'connected_gene': 'ARHGAP45', 'score': 1.92}, {'connected_gene': 'SCAMP4', 'score': 1.52}, {'connected_gene': 'ADAT3', 'score': 1.52}, {'connected_gene': 'ABHD17A', 'score': 1.44}, {'connected_gene': 'UQCR11', 'score': 1.28}, {'connected_gene': 'GC19P001423', 'score': 0.44}]
chr19	GH19I001772	1772896	1774271	0.86	[{'connected_gene': 'ATP8B3', 'score': 12.75}, {'connected_gene': 'REXO1', 'score': 12.66}, {'connected_gene': 'UQCR11', 'score': 12.16}, {'connected_gene': 'TCF3', 'score': 11.49}, {'connected_gene': 'RNU6-1223P', 'score': 11.44}, {'connected_gene': 'MOB3A', 'score': 6.02}, {'connected_gene': 'LOC101928543', 'score': 0.44}, {'connected_gene': 'GC19M001748', 'score': 0.44}, {'connected_gene': 'ONECUT3', 'score': 0.34}]
chr19	GH19I001603	1603771	1607063	2.28	[{'connected_gene': 'UQCR11', 'score': 550.77}, {'connected_gene': 'ENSG00000267059', 'score': 550.77}, {'connected_gene': 'TCF3', 'score': 29.58}, {'connected_gene': 'ATP8B3', 'score': 21.95}, {'connected_gene': 'SF3A2', 'score': 20.36}, {'connected_gene': 'LOC100288123', 'score': 18.69}, {'connected_gene': 'DAZAP1', 'score': 16.46}, {'connected_gene': 'TMEM259', 'score': 15.98}, {'connected_gene': 'DOT1L', 'score': 11.99}, {'connected_gene': 'PTBP1', 'score': 11.92}, {'connected_gene': 'REXO1', 'score': 11.75}, {'connected_gene': 'MED16', 'score': 11.41}, {'connected_gene': 'ENSG00000267317', 'score': 11.38}, {'connected_gene': 'RNF126', 'score': 10.53}, {'connected_gene': 'GRIN3B', 'score': 10.52}, {'connected_gene': 'MBD3', 'score': 0.39}]
chr19	GH19I001602	1602635	1603390	0.57	[{'connected_gene': 'UQCR11', 'score': 0.77}, {'connected_gene': 'ENSG00000267059', 'score': 0.77}, {'connected_gene': 'MBD3', 'score': 0.39}]
chr19	GH19I001608	1608382	1610127	1	[{'connected_gene': 'GC19P001610', 'score': 550.77}, {'connected_gene': 'TCF3', 'score': 12.71}, {'connected_gene': 'ATP8B3', 'score': 11.76}, {'connected_gene': 'REXO1', 'score': 11.75}, {'connected_gene': 'UQCR11', 'score': 0.77}]