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
ENST00000380075	[[27505259, 27505767], [27521434, 27521607], [27522112, 27522284], [27527826, 27527922], [27528451, 27528685], [27528947, 27528970], [27529080, 27529205], [27529323, 27529410], [27529754, 27530303]]	[[27505599, 27505767], [27521434, 27521607], [27522112, 27522284], [27527826, 27527922], [27528451, 27528685], [27528947, 27528970], [27529080, 27529205]]
ENST00000296098	[[27505329, 27505767], [27521434, 27521607], [27522112, 27522284], [27522397, 27522523], [27527826, 27527922], [27528451, 27528685], [27528947, 27528970], [27529080, 27529205], [27529323, 27529410], [27529754, 27530307]]	[[27505599, 27505767], [27521434, 27521607], [27522112, 27522284], [27522397, 27522523], [27527826, 27527922], [27528451, 27528685], [27528947, 27528970], [27529080, 27529205]]
ENST00000488321	[[27527558, 27527922], [27528451, 27528647]]	None
ENST00000485306	[[27528052, 27528685], [27528947, 27528970], [27529080, 27529129]]	None
NM_187841	[[27505296, 27505767], [27521434, 27521607], [27522112, 27522284], [27527826, 27527922], [27528451, 27528685], [27528947, 27528970], [27529080, 27529205], [27529323, 27529410], [27529754, 27530307]]	[[27505599, 27505767], [27521434, 27521607], [27522112, 27522284], [27527826, 27527922], [27528451, 27528685], [27528947, 27528970], [27529080, 27529205]]
NM_032546	[[27505296, 27505767], [27521434, 27521607], [27522112, 27522284], [27522397, 27522523], [27527826, 27527922], [27528451, 27528685], [27528947, 27528970], [27529080, 27529205], [27529323, 27529410], [27529754, 27530307]]	[[27505599, 27505767], [27521434, 27521607], [27522112, 27522284], [27522397, 27522523], [27527826, 27527922], [27528451, 27528685], [27528947, 27528970], [27529080, 27529205]]

Promoter

Chrom	Start	End	Description
chr2	27505287	27505306	CAGE_peak_1_at_TRIM54_5end
chr2	27505483	27505518	CAGE_peak_2_at_TRIM54_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr2	GH02I027282	27280201	27280400	1.04	[{'connected_gene': 'SLC30A3', 'score': 0.77}, {'connected_gene': 'TRIM54', 'score': 0.77}, {'connected_gene': 'DNAJC5G', 'score': 0.77}]
chr2	GH02I027279	27279973	27280162	1.08	[{'connected_gene': 'SLC30A3', 'score': 0.77}, {'connected_gene': 'TRIM54', 'score': 0.77}, {'connected_gene': 'DNAJC5G', 'score': 0.77}]
chr2	GH02I027756	27756377	27757988	1.06	[{'connected_gene': 'CAD', 'score': 15.86}, {'connected_gene': 'LOC105374363', 'score': 14.41}, {'connected_gene': 'EIF2B4', 'score': 14.24}, {'connected_gene': 'GTF3C2', 'score': 12.0}, {'connected_gene': 'TMEM214', 'score': 11.84}, {'connected_gene': 'GPN1', 'score': 11.03}, {'connected_gene': 'SUPT7L', 'score': 10.79}, {'connected_gene': 'ZNF512', 'score': 10.21}, {'connected_gene': 'SNX17', 'score': 5.34}, {'connected_gene': 'TRIM54', 'score': 4.32}, {'connected_gene': 'MRPL33', 'score': 0.39}, {'connected_gene': 'LINC01460', 'score': 0.26}, {'connected_gene': 'LOC105374378', 'score': 0.26}, {'connected_gene': 'GC02M027478', 'score': 0.05}]
chr2	GH02I027751	27751237	27754799	1.39	[{'connected_gene': 'FNDC4', 'score': 8.23}, {'connected_gene': 'TRIM54', 'score': 4.3}, {'connected_gene': 'MRPL33', 'score': 0.37}, {'connected_gene': 'LINC01460', 'score': 0.28}, {'connected_gene': 'LOC105374378', 'score': 0.28}, {'connected_gene': 'GC02M027478', 'score': 0.05}]
chr2	GH02I027281	27280407	27280614	0.8	[{'connected_gene': 'TRIM54', 'score': 550.77}, {'connected_gene': 'SLC30A3', 'score': 0.77}, {'connected_gene': 'DNAJC5G', 'score': 0.44}]
chr2	GH02I027280	27280688	27283869	1.59	[{'connected_gene': 'TRIM54', 'score': 550.77}, {'connected_gene': 'ATRAID', 'score': 25.68}, {'connected_gene': 'EMILIN1', 'score': 13.82}, {'connected_gene': 'GTF3C2', 'score': 13.74}, {'connected_gene': 'GPN1', 'score': 13.04}, {'connected_gene': 'NRBP1', 'score': 12.29}, {'connected_gene': 'CAD', 'score': 11.68}, {'connected_gene': 'SNX17', 'score': 11.09}, {'connected_gene': 'EIF2B4', 'score': 10.52}, {'connected_gene': 'TMEM214', 'score': 10.29}, {'connected_gene': 'LOC105374363', 'score': 9.82}, {'connected_gene': 'SLC30A3', 'score': 0.44}, {'connected_gene': 'DNAJC5G', 'score': 0.44}]
chr2	GH02I027353	27353349	27354981	1.11	[{'connected_gene': 'MPV17', 'score': 11.27}, {'connected_gene': 'ZNF513', 'score': 11.24}, {'connected_gene': 'UCN', 'score': 11.21}, {'connected_gene': 'TRIM54', 'score': 11.15}, {'connected_gene': 'NRBP1', 'score': 10.41}, {'connected_gene': 'KRTCAP3', 'score': 10.04}, {'connected_gene': 'IFT172', 'score': 9.99}, {'connected_gene': 'ATRAID', 'score': 9.76}, {'connected_gene': 'SLC5A6', 'score': 9.76}, {'connected_gene': 'PREB', 'score': 9.28}, {'connected_gene': 'ZNF512', 'score': 9.05}, {'connected_gene': 'CCDC121', 'score': 8.49}, {'connected_gene': 'GPN1', 'score': 8.49}, {'connected_gene': 'MAPRE3', 'score': 4.17}, {'connected_gene': 'GTF3C2', 'score': 0.77}, {'connected_gene': 'LOC105374363', 'score': 0.77}, {'connected_gene': 'GTF3C2-AS1', 'score': 0.37}]
chr2	GH02I027292	27292053	27292202	0.63	[{'connected_gene': 'MPV17', 'score': 10.71}, {'connected_gene': 'GTF3C2-AS1', 'score': 10.68}, {'connected_gene': 'GTF3C2', 'score': 10.62}, {'connected_gene': 'SLC5A6', 'score': 10.61}, {'connected_gene': 'ATRAID', 'score': 10.6}, {'connected_gene': 'SNX17', 'score': 9.99}, {'connected_gene': 'ZNF513', 'score': 9.97}, {'connected_gene': 'GC02P027296', 'score': 0.77}, {'connected_gene': 'TRIM54', 'score': 0.44}]
chr2	GH02I027085	27085082	27089890	2.25	[{'connected_gene': 'KHK', 'score': 587.0}, {'connected_gene': 'GC02M027085', 'score': 550.77}, {'connected_gene': 'SNX17', 'score': 22.72}, {'connected_gene': 'ATRAID', 'score': 20.71}, {'connected_gene': 'GTF3C2', 'score': 17.03}, {'connected_gene': 'NRBP1', 'score': 16.42}, {'connected_gene': 'TMEM214', 'score': 12.86}, {'connected_gene': 'CAD', 'score': 12.44}, {'connected_gene': 'LOC105374363', 'score': 12.16}, {'connected_gene': 'GPN1', 'score': 12.0}, {'connected_gene': 'SLC5A6', 'score': 11.03}, {'connected_gene': 'ABHD1', 'score': 10.98}, {'connected_gene': 'CGREF1', 'score': 10.8}, {'connected_gene': 'PREB', 'score': 10.77}, {'connected_gene': 'TRIM54', 'score': 10.43}, {'connected_gene': 'UCN', 'score': 10.42}, {'connected_gene': 'MPV17', 'score': 10.41}, {'connected_gene': 'EIF2B4', 'score': 9.71}, {'connected_gene': 'LOC100129724', 'score': 9.69}, {'connected_gene': 'MAPRE3', 'score': 9.62}, {'connected_gene': 'ZNF513', 'score': 8.88}, {'connected_gene': 'EMILIN1', 'score': 0.44}, {'connected_gene': 'GC02P027111', 'score': 0.34}]
chr2	GH02I027090	27090630	27097200	1.44	[{'connected_gene': 'KHK', 'score': 36.65}, {'connected_gene': 'ABHD1', 'score': 11.1}, {'connected_gene': 'CGREF1', 'score': 11.1}, {'connected_gene': 'ATRAID', 'score': 11.03}, {'connected_gene': 'SLC5A6', 'score': 11.03}, {'connected_gene': 'CAD', 'score': 10.92}, {'connected_gene': 'PRR30', 'score': 10.9}, {'connected_gene': 'TCF23', 'score': 10.87}, {'connected_gene': 'PREB', 'score': 10.8}, {'connected_gene': 'AGBL5-AS1', 'score': 10.44}, {'connected_gene': 'TRIM54', 'score': 10.43}, {'connected_gene': 'UCN', 'score': 10.42}, {'connected_gene': 'MPV17', 'score': 10.42}, {'connected_gene': 'AGBL5', 'score': 10.41}, {'connected_gene': 'SLC30A3', 'score': 10.2}, {'connected_gene': 'DNAJC5G', 'score': 10.2}, {'connected_gene': 'MAPRE3', 'score': 9.96}, {'connected_gene': 'LOC100129724', 'score': 9.81}, {'connected_gene': 'SNX17', 'score': 8.97}, {'connected_gene': 'ZNF513', 'score': 8.88}, {'connected_gene': 'GC02P027111', 'score': 0.37}]
chr2	GH02I027303	27303001	27303781	1.31	[{'connected_gene': 'NRBP1', 'score': 4.44}, {'connected_gene': 'UCN', 'score': 0.44}, {'connected_gene': 'GC02P027296', 'score': 0.44}, {'connected_gene': 'TRIM54', 'score': 0.34}]
chr2	GH02I027164	27164804	27165908	0.62	[{'connected_gene': 'GTF3C2', 'score': 15.37}, {'connected_gene': 'PRR30', 'score': 12.24}, {'connected_gene': 'PREB', 'score': 11.75}, {'connected_gene': 'ATRAID', 'score': 11.36}, {'connected_gene': 'SLC5A6', 'score': 11.36}, {'connected_gene': 'ABHD1', 'score': 11.29}, {'connected_gene': 'CGREF1', 'score': 11.08}, {'connected_gene': 'CAD', 'score': 10.87}, {'connected_gene': 'KHK', 'score': 10.63}, {'connected_gene': 'EMILIN1', 'score': 10.61}, {'connected_gene': 'TRIM54', 'score': 9.95}, {'connected_gene': 'UCN', 'score': 9.84}, {'connected_gene': 'MPV17', 'score': 9.82}, {'connected_gene': 'GTF3C2-AS1', 'score': 9.51}, {'connected_gene': 'MAPRE3', 'score': 9.19}, {'connected_gene': 'DPYSL5', 'score': 9.15}, {'connected_gene': 'ENSG00000236099', 'score': 0.44}, {'connected_gene': 'GC02P027132', 'score': 0.29}]
chr2	GH02I027293	27292331	27294567	1.35	[{'connected_gene': 'LOC105374363', 'score': 12.47}, {'connected_gene': 'GTF3C2', 'score': 8.85}, {'connected_gene': 'GC02P027296', 'score': 0.77}, {'connected_gene': 'TRIM54', 'score': 0.39}]
chr2	GH02I027714	27714523	27717823	1.79	[{'connected_gene': 'LINC01460', 'score': 550.77}, {'connected_gene': 'LOC105374378', 'score': 550.77}, {'connected_gene': 'SNX17', 'score': 12.22}, {'connected_gene': 'FNDC4', 'score': 8.47}, {'connected_gene': 'KRTCAP3', 'score': 6.99}, {'connected_gene': 'OST4', 'score': 5.32}, {'connected_gene': 'TRIM54', 'score': 3.73}, {'connected_gene': 'GC02M027478', 'score': 0.05}]
chr2	GH02I027287	27287855	27289358	0.43	[{'connected_gene': 'GC02P027296', 'score': 0.44}, {'connected_gene': 'TRIM54', 'score': 0.44}]
chr2	GH02I026902	26902986	26906698	0.38	[{'connected_gene': 'PIR42524', 'score': 550.77}, {'connected_gene': 'KHK', 'score': 22.11}, {'connected_gene': 'DPYSL5', 'score': 11.49}, {'connected_gene': 'MAPRE3', 'score': 10.7}, {'connected_gene': 'TRIM54', 'score': 9.39}, {'connected_gene': 'UCN', 'score': 9.39}, {'connected_gene': 'MPV17', 'score': 9.39}, {'connected_gene': 'CENPA', 'score': 8.27}]
chr2	GH02I027062	27062341	27064322	0.89	[{'connected_gene': 'ENSG00000272148', 'score': 550.77}, {'connected_gene': 'KHK', 'score': 43.94}, {'connected_gene': 'ATRAID', 'score': 10.34}, {'connected_gene': 'SLC5A6', 'score': 10.34}, {'connected_gene': 'LOC100129724', 'score': 10.1}, {'connected_gene': 'MAPRE3', 'score': 10.06}, {'connected_gene': 'LOC105374337', 'score': 10.04}, {'connected_gene': 'TRIM54', 'score': 9.69}, {'connected_gene': 'UCN', 'score': 9.68}, {'connected_gene': 'MPV17', 'score': 9.68}, {'connected_gene': 'ZNF512', 'score': 4.03}, {'connected_gene': 'OST4', 'score': 0.44}, {'connected_gene': 'AGBL5', 'score': 0.34}]