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
ENST00000355496	[[49340353, 49340808], [49341273, 49341386], [49348626, 49348703], [49348773, 49348873], [49351156, 49351297], [49355484, 49355583], [49356938, 49357088], [49357263, 49357344], [49357473, 49357521], [49362116, 49362396], [49362725, 49362941], [49363606, 49363716], [49364657, 49364758], [49364876, 49364949], [49368759, 49368867], [49370793, 49370883], [49371339, 49371711]]	[[49341302, 49341386], [49348626, 49348703], [49348773, 49348873], [49351156, 49351297], [49355484, 49355583], [49356938, 49357088], [49357263, 49357344], [49357473, 49357521], [49362116, 49362396], [49362725, 49362941], [49363606, 49363716], [49364657, 49364758], [49364876, 49364949], [49368759, 49368867], [49370793, 49370877]]
ENST00000263265	[[49340353, 49340808], [49341273, 49341386], [49342461, 49342520], [49344405, 49344567], [49348626, 49348703], [49348773, 49348873], [49351156, 49351297], [49355484, 49355583], [49356938, 49357088], [49357263, 49357344], [49357473, 49357521], [49360678, 49360753], [49362116, 49362396], [49362725, 49362941], [49363606, 49363716], [49364657, 49364758], [49364876, 49364949], [49368759, 49368867], [49370793, 49370883], [49371339, 49371889]]	[[49340545, 49340808], [49341273, 49341386], [49342461, 49342520], [49344405, 49344567], [49348626, 49348703], [49348773, 49348873], [49351156, 49351297], [49355484, 49355583], [49356938, 49357088], [49357263, 49357344], [49357473, 49357521], [49360678, 49360753], [49362116, 49362396], [49362725, 49362941], [49363606, 49363716], [49364657, 49364758], [49364876, 49364949], [49368759, 49368867], [49370793, 49370877]]
ENST00000597129	[[49340366, 49340808], [49341273, 49341386], [49344405, 49344567], [49348626, 49348703], [49348773, 49348808]]	[[49341302, 49341386], [49344405, 49344567], [49348626, 49348703], [49348773, 49348808]]
ENST00000601146	[[49340439, 49340808], [49341273, 49341571]]	None
ENST00000593696	[[49348397, 49348703], [49348773, 49348853]]	None
ENST00000597406	[[49348449, 49348873], [49351156, 49351297], [49355484, 49355563]]	None
ENST00000595867	[[49348807, 49348873], [49351156, 49351297], [49355484, 49355583], [49356938, 49357088], [49357263, 49357344], [49357473, 49357521], [49362458, 49362639]]	[[49348807, 49348873], [49351156, 49351267]]
ENST00000594195	[[49355494, 49355583], [49356938, 49357088], [49357263, 49357344], [49357473, 49357521], [49360678, 49360753], [49362458, 49362631]]	[[49355494, 49355583], [49356938, 49357088], [49357263, 49357344], [49357473, 49357521], [49360678, 49360690]]
ENST00000596713	[[49362117, 49362396], [49362725, 49362941], [49363277, 49363375]]	None
ENST00000596982	[[49362353, 49362396], [49362725, 49362941], [49363606, 49363716], [49364657, 49364758], [49368759, 49368814]]	[[49364734, 49364758], [49368759, 49368814]]
ENST00000594100	[[49362353, 49362396], [49362725, 49362941], [49363606, 49363716], [49364657, 49364758], [49364876, 49364949], [49370793, 49370852]]	[[49362353, 49362396], [49362725, 49362941], [49363606, 49363716], [49364657, 49364758], [49364876, 49364949], [49370793, 49370852]]
NM_020904	[[49340353, 49340808], [49341273, 49341386], [49342461, 49342520], [49344405, 49344567], [49348626, 49348703], [49348773, 49348873], [49351156, 49351297], [49355484, 49355583], [49356938, 49357088], [49357263, 49357344], [49357473, 49357521], [49360678, 49360753], [49362116, 49362396], [49362725, 49362941], [49363606, 49363716], [49364657, 49364758], [49364876, 49364949], [49368759, 49368867], [49370793, 49370883], [49371339, 49371884]]	[[49340545, 49340808], [49341273, 49341386], [49342461, 49342520], [49344405, 49344567], [49348626, 49348703], [49348773, 49348873], [49351156, 49351297], [49355484, 49355583], [49356938, 49357088], [49357263, 49357344], [49357473, 49357521], [49360678, 49360753], [49362116, 49362396], [49362725, 49362941], [49363606, 49363716], [49364657, 49364758], [49364876, 49364949], [49368759, 49368867], [49370793, 49370877]]
NM_001161354	[[49340353, 49340808], [49341273, 49341386], [49348626, 49348703], [49348773, 49348873], [49351156, 49351297], [49355484, 49355583], [49356938, 49357088], [49357263, 49357344], [49357473, 49357521], [49362116, 49362396], [49362725, 49362941], [49363606, 49363716], [49364657, 49364758], [49364876, 49364949], [49368759, 49368867], [49370793, 49370883], [49371339, 49371884]]	[[49341302, 49341386], [49348626, 49348703], [49348773, 49348873], [49351156, 49351297], [49355484, 49355583], [49356938, 49357088], [49357263, 49357344], [49357473, 49357521], [49362116, 49362396], [49362725, 49362941], [49363606, 49363716], [49364657, 49364758], [49364876, 49364949], [49368759, 49368867], [49370793, 49370877]]

Promoter

Chrom	Start	End	Description
chr19	49362621	49362640	CAGE_peak_6_at_PLEKHA4_5end
chr19	49362641	49362662	CAGE_peak_4_at_PLEKHA4_5end
chr19	49371848	49371879	CAGE_peak_1_at_PLEKHA4_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I048842	48842804	48842993	0.72	[{'connected_gene': 'BCAT2', 'score': 12.46}, {'connected_gene': 'IZUMO1', 'score': 11.58}, {'connected_gene': 'RASIP1', 'score': 11.58}, {'connected_gene': 'NUCB1', 'score': 11.27}, {'connected_gene': 'TULP2', 'score': 11.27}, {'connected_gene': 'NUCB1-AS1', 'score': 11.21}, {'connected_gene': 'SEC1P', 'score': 10.9}, {'connected_gene': 'DBP', 'score': 10.9}, {'connected_gene': 'MAMSTR', 'score': 10.88}, {'connected_gene': 'FUT2', 'score': 10.86}, {'connected_gene': 'GC19P048839', 'score': 0.44}, {'connected_gene': 'GC19P048838', 'score': 0.44}, {'connected_gene': 'PLEKHA4', 'score': 0.31}]
chr19	GH19I048843	48843004	48843153	0.63	[{'connected_gene': 'BCAT2', 'score': 12.46}, {'connected_gene': 'IZUMO1', 'score': 11.58}, {'connected_gene': 'RASIP1', 'score': 11.58}, {'connected_gene': 'NUCB1', 'score': 11.27}, {'connected_gene': 'TULP2', 'score': 11.27}, {'connected_gene': 'NUCB1-AS1', 'score': 11.21}, {'connected_gene': 'DBP', 'score': 10.9}, {'connected_gene': 'SEC1P', 'score': 10.9}, {'connected_gene': 'MAMSTR', 'score': 10.88}, {'connected_gene': 'FUT2', 'score': 10.86}, {'connected_gene': 'GC19P048839', 'score': 0.44}, {'connected_gene': 'GC19P048838', 'score': 0.44}, {'connected_gene': 'PLEKHA4', 'score': 0.31}]
chr19	GH19I048866	48866597	48869582	2.21	[{'connected_gene': 'PLEKHA4', 'score': 555.87}, {'connected_gene': 'PRR12', 'score': 48.23}, {'connected_gene': 'GRWD1', 'score': 40.04}, {'connected_gene': 'PIH1D1', 'score': 36.42}, {'connected_gene': 'SNRNP70', 'score': 30.68}, {'connected_gene': 'PTOV1-AS2', 'score': 22.67}, {'connected_gene': 'SNORD35A', 'score': 22.39}, {'connected_gene': 'KDELR1', 'score': 19.48}, {'connected_gene': 'IRF3', 'score': 19.43}, {'connected_gene': 'SNORD35B', 'score': 19.26}, {'connected_gene': 'HSD17B14', 'score': 19.0}, {'connected_gene': 'ALDH16A1', 'score': 18.47}, {'connected_gene': 'ENSG00000268047', 'score': 13.38}, {'connected_gene': 'RPS11', 'score': 12.99}, {'connected_gene': 'RPL13A', 'score': 12.25}, {'connected_gene': 'CYTH2', 'score': 12.13}, {'connected_gene': 'DKKL1', 'score': 11.85}, {'connected_gene': 'RPL18', 'score': 11.58}, {'connected_gene': 'PTOV1', 'score': 11.48}, {'connected_gene': 'SCAF1', 'score': 10.89}, {'connected_gene': 'MED25', 'score': 10.08}, {'connected_gene': 'ADM5', 'score': 9.87}, {'connected_gene': 'RASIP1', 'score': 9.79}, {'connected_gene': 'NUCB1', 'score': 8.24}, {'connected_gene': 'GC19P048839', 'score': 0.29}, {'connected_gene': 'GC19P048838', 'score': 0.29}]
chr19	GH19I048844	48844544	48844733	0.66	[{'connected_gene': 'PLEKHA4', 'score': 12.18}, {'connected_gene': 'PPP1R15A', 'score': 12.15}, {'connected_gene': 'TULP2', 'score': 12.06}, {'connected_gene': 'BCAT2', 'score': 11.86}, {'connected_gene': 'NUCB1', 'score': 11.16}, {'connected_gene': 'NUCB1-AS1', 'score': 11.13}, {'connected_gene': 'CGB7', 'score': 10.0}, {'connected_gene': 'NTF4', 'score': 10.0}, {'connected_gene': 'GC19P048839', 'score': 0.44}, {'connected_gene': 'GC19P048838', 'score': 0.44}]
chr19	GH19I048858	48858704	48860840	1.35	[{'connected_gene': 'HSD17B14', 'score': 17.33}, {'connected_gene': 'BCL2L12', 'score': 13.87}, {'connected_gene': 'NUCB1', 'score': 8.8}, {'connected_gene': 'PLEKHA4', 'score': 0.44}, {'connected_gene': 'GC19P048839', 'score': 0.34}, {'connected_gene': 'GC19P048838', 'score': 0.34}]
chr19	GH19I048835	48835304	48838092	2	[{'connected_gene': 'HSD17B14', 'score': 581.99}, {'connected_gene': 'GC19P048839', 'score': 550.77}, {'connected_gene': 'GC19P048838', 'score': 550.77}, {'connected_gene': 'BCAT2', 'score': 0.31}, {'connected_gene': 'PLEKHA4', 'score': 0.29}]
chr19	GH19I048856	48856894	48858683	0.77	[{'connected_gene': 'HSD17B14', 'score': 26.21}, {'connected_gene': 'NUCB1', 'score': 9.41}, {'connected_gene': 'PPP1R15A', 'score': 5.45}, {'connected_gene': 'PLEKHA4', 'score': 0.39}, {'connected_gene': 'GC19P048839', 'score': 0.34}, {'connected_gene': 'GC19P048838', 'score': 0.34}]
chr19	GH19I048898	48898353	48902130	2.04	[{'connected_gene': 'NUCB1', 'score': 571.47}, {'connected_gene': 'TULP2', 'score': 567.62}, {'connected_gene': 'PPP1R15A', 'score': 12.25}, {'connected_gene': 'PLEKHA4', 'score': 12.24}, {'connected_gene': 'BAX', 'score': 11.83}, {'connected_gene': 'FTL', 'score': 11.33}, {'connected_gene': 'DBP', 'score': 9.43}, {'connected_gene': 'SEC1P', 'score': 9.43}, {'connected_gene': 'IRF3', 'score': 5.54}, {'connected_gene': 'NUCB1-AS1', 'score': 0.37}]
chr19	GH19I048838	48838844	48838973	0.67	[{'connected_gene': 'GC19P048839', 'score': 550.77}, {'connected_gene': 'GC19P048838', 'score': 550.77}, {'connected_gene': 'HSD17B14', 'score': 30.44}, {'connected_gene': 'PLEKHA4', 'score': 0.31}]