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
ENST00000398411	[[23608533, 23610102], [23614550, 23614636], [23615890, 23616004], [23618256, 23618582]]	[[23614552, 23614636], [23615890, 23616004], [23618256, 23618499]]
ENST00000376925	[[23614284, 23614636], [23615890, 23616004], [23618256, 23618663]]	[[23614552, 23614636], [23615890, 23616004], [23618256, 23618499]]
ENST00000398409	[[23614293, 23614636], [23615890, 23616004], [23618256, 23618569], [23619048, 23619110]]	[[23614552, 23614636], [23615890, 23616004], [23618256, 23618499]]
NM_001288614	[[23608533, 23610102], [23614550, 23614636], [23615890, 23616004], [23618256, 23618685]]	[[23614552, 23614636], [23615890, 23616004], [23618256, 23618499]]
NM_000099	[[23614293, 23614636], [23615890, 23616004], [23618256, 23618685]]	[[23614552, 23614636], [23615890, 23616004], [23618256, 23618499]]

Promoter

Chrom	Start	End	Description
chr20	23618584	23618603	CAGE_peak_1_at_CST3_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr20	GH20I023658	23658363	23662216	1.66	[{'connected_gene': 'NXT1', 'score': 22.53}, {'connected_gene': 'CST9', 'score': 12.52}, {'connected_gene': 'CSTL1', 'score': 11.17}, {'connected_gene': 'CST3', 'score': 6.77}, {'connected_gene': 'ENSG00000225056', 'score': 0.77}, {'connected_gene': 'GC20M023600', 'score': 0.44}, {'connected_gene': 'LOC105372573', 'score': 0.44}]
chr20	GH20I023141	23141005	23163013	1.83	[{'connected_gene': 'CD93', 'score': 43.97}, {'connected_gene': 'NXT1', 'score': 25.67}, {'connected_gene': 'THBD', 'score': 17.71}, {'connected_gene': 'ENSG00000230387', 'score': 7.44}, {'connected_gene': 'GZF1', 'score': 3.46}, {'connected_gene': 'CST3', 'score': 1.55}, {'connected_gene': 'ENSG00000279164', 'score': 0.77}, {'connected_gene': 'RNA5SP478', 'score': 0.44}, {'connected_gene': 'LOC100505664', 'score': 0.44}]
chr20	GH20I023224	23224818	23226106	1.2	[{'connected_gene': 'CD93', 'score': 14.91}, {'connected_gene': 'ENSG00000230387', 'score': 8.87}, {'connected_gene': 'CST3', 'score': 3.74}, {'connected_gene': 'THBD', 'score': 2.43}, {'connected_gene': 'GZF1', 'score': 1.37}, {'connected_gene': 'ENSG00000277901', 'score': 0.15}]
chr20	GH20I023635	23635160	23638770	2.19	[{'connected_gene': 'CST3', 'score': 561.6}, {'connected_gene': 'NXT1', 'score': 15.23}, {'connected_gene': 'ENSG00000270001', 'score': 0.77}, {'connected_gene': 'GC20M023600', 'score': 0.29}]
chr20	GH20I023764	23764669	23765232	0.31	[{'connected_gene': 'CST3', 'score': 5.94}, {'connected_gene': 'PIR40448', 'score': 0.44}, {'connected_gene': 'CST1', 'score': 0.39}]
chr20	GH20I023754	23754613	23755785	0.66	[{'connected_gene': 'CST3', 'score': 5.74}, {'connected_gene': 'CST1', 'score': 0.77}, {'connected_gene': 'PIR40448', 'score': 0.37}]
chr20	GH20I023628	23628453	23630726	1.34	[{'connected_gene': 'CST3', 'score': 13.33}, {'connected_gene': 'CST9', 'score': 11.13}, {'connected_gene': 'GZF1', 'score': 4.99}, {'connected_gene': 'ENSG00000270001', 'score': 0.77}, {'connected_gene': 'GC20M023600', 'score': 0.28}]
chr20	GH20I023626	23625620	23626937	0.56	[{'connected_gene': 'CST3', 'score': 16.28}, {'connected_gene': 'ENSG00000270001', 'score': 0.44}, {'connected_gene': 'CST9', 'score': 0.34}, {'connected_gene': 'GC20M023600', 'score': 0.26}]
chr20	GH20I023622	23622038	23624658	1.03	[{'connected_gene': 'CST3', 'score': 16.62}, {'connected_gene': 'ENSG00000270001', 'score': 0.44}, {'connected_gene': 'CST9', 'score': 0.37}, {'connected_gene': 'GC20M023600', 'score': 0.25}]
chr20	GH20I023602	23602218	23602805	0.51	[{'connected_gene': 'CST3', 'score': 23.47}, {'connected_gene': 'CSTL1', 'score': 11.13}, {'connected_gene': 'NAPB', 'score': 10.41}, {'connected_gene': 'CST9', 'score': 0.77}, {'connected_gene': 'CST9LP2', 'score': 0.37}, {'connected_gene': 'GC20M023600', 'score': 0.2}]
chr20	GH20I023643	23643582	23643873	0.43	[{'connected_gene': 'CST3', 'score': 0.44}, {'connected_gene': 'ENSG00000225056', 'score': 0.39}, {'connected_gene': 'GC20M023600', 'score': 0.31}]
chr20	GH20I023639	23639714	23643185	1.31	[{'connected_gene': 'CST3', 'score': 11.73}, {'connected_gene': 'ENSG00000225056', 'score': 0.39}, {'connected_gene': 'GC20M023600', 'score': 0.31}]
chr20	GH20I023692	23692603	23693896	0.66	[{'connected_gene': 'CST9', 'score': 10.03}, {'connected_gene': 'CST1', 'score': 9.24}, {'connected_gene': 'CST3', 'score': 7.32}, {'connected_gene': 'CST4', 'score': 0.77}, {'connected_gene': 'CST2P1', 'score': 0.37}]
chr20	GH20I023655	23655401	23656800	0.79	[{'connected_gene': 'ENSG00000225056', 'score': 550.77}, {'connected_gene': 'CST9', 'score': 10.79}, {'connected_gene': 'CSTL1', 'score': 10.72}, {'connected_gene': 'NAPB', 'score': 10.53}, {'connected_gene': 'CST3', 'score': 9.07}, {'connected_gene': 'GC20M023600', 'score': 0.39}]