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
ENST00000270645	[[50030874, 50031315], [50031723, 50031971], [50037449, 50037652], [50040289, 50040462], [50042375, 50042436], [50045809, 50046009], [50046362, 50046895]]	[[50031729, 50031971], [50037449, 50037652], [50040289, 50040462], [50042375, 50042436], [50045809, 50046009], [50046362, 50046470]]
ENST00000597801	[[50031546, 50031638], [50031723, 50031971], [50037449, 50037558], [50040289, 50040389]]	[[50031729, 50031971], [50037449, 50037558], [50040289, 50040389]]
ENST00000593644	[[50031800, 50031971], [50040289, 50040341]]	None
ENST00000598833	[[50031882, 50031971], [50037449, 50037652], [50040289, 50040462], [50050077, 50050219]]	[[50031882, 50031971], [50037449, 50037652], [50040289, 50040462], [50050077, 50050122]]
ENST00000593483	[[50045858, 50045925], [50046362, 50046890]]	[[50045858, 50045925], [50046362, 50046470]]
NM_020650	[[50030874, 50031315], [50031723, 50031971], [50037449, 50037652], [50040289, 50040462], [50042375, 50042436], [50045809, 50046009], [50046362, 50046890]]	[[50031729, 50031971], [50037449, 50037652], [50040289, 50040462], [50042375, 50042436], [50045809, 50046009], [50046362, 50046470]]

Promoter

Chrom	Start	End	Description
chr19	50031252	50031285	CAGE_peak_1_at_RCN3_5end
chr19	50031567	50031632	CAGE_peak_2_at_RCN3_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I049637	49637475	49643832	2.61	[{'connected_gene': 'RRAS', 'score': 552.96}, {'connected_gene': 'SCAF1', 'score': 550.77}, {'connected_gene': 'PTOV1-AS2', 'score': 29.6}, {'connected_gene': 'POLD1', 'score': 28.92}, {'connected_gene': 'PRR12', 'score': 28.47}, {'connected_gene': 'SNORD35A', 'score': 28.26}, {'connected_gene': 'NUP62', 'score': 26.63}, {'connected_gene': 'ALDH16A1', 'score': 26.57}, {'connected_gene': 'SNORD35B', 'score': 25.96}, {'connected_gene': 'IRF3', 'score': 25.82}, {'connected_gene': 'PNKP', 'score': 25.82}, {'connected_gene': 'SNRNP70', 'score': 21.92}, {'connected_gene': 'PIH1D1', 'score': 18.74}, {'connected_gene': 'RPL13A', 'score': 14.75}, {'connected_gene': 'RPS11', 'score': 13.2}, {'connected_gene': 'PRMT1', 'score': 11.05}, {'connected_gene': 'ADM5', 'score': 11.02}, {'connected_gene': 'CPT1C', 'score': 11.0}, {'connected_gene': 'BCAT2', 'score': 10.95}, {'connected_gene': 'BAX', 'score': 10.64}, {'connected_gene': 'RASIP1', 'score': 9.69}, {'connected_gene': 'RCN3', 'score': 2.68}, {'connected_gene': 'AP2A1', 'score': 1.71}, {'connected_gene': 'TRPM4', 'score': 1.45}, {'connected_gene': 'AKT1S1', 'score': 1.32}, {'connected_gene': 'BCL2L12', 'score': 0.34}]
chr19	GH19I049546	49546463	49547733	1.15	[{'connected_gene': 'PRR12', 'score': 18.04}, {'connected_gene': 'RCN3', 'score': 16.59}, {'connected_gene': 'GC19M049536', 'score': 0.39}, {'connected_gene': 'PIR42034', 'score': 0.39}]
chr19	GH19I049567	49567266	49571865	1.35	[{'connected_gene': 'PRR12', 'score': 28.81}, {'connected_gene': 'NOSIP', 'score': 28.37}, {'connected_gene': 'SNORD35B', 'score': 23.62}, {'connected_gene': 'PRRG2', 'score': 18.88}, {'connected_gene': 'POLD1', 'score': 15.99}, {'connected_gene': 'NUP62', 'score': 13.71}, {'connected_gene': 'PTOV1-AS2', 'score': 13.41}, {'connected_gene': 'SNORD35A', 'score': 13.37}, {'connected_gene': 'FCGRT', 'score': 12.42}, {'connected_gene': 'MIR150', 'score': 12.42}, {'connected_gene': 'RPS11', 'score': 12.41}, {'connected_gene': 'RCN3', 'score': 12.25}, {'connected_gene': 'FLT3LG', 'score': 11.65}, {'connected_gene': 'IRF3', 'score': 11.41}, {'connected_gene': 'BCL2L12', 'score': 11.41}, {'connected_gene': 'PRMT1', 'score': 11.4}, {'connected_gene': 'SLC17A7', 'score': 10.18}, {'connected_gene': 'ALDH16A1', 'score': 10.0}, {'connected_gene': 'SNRNP70', 'score': 9.77}, {'connected_gene': 'ENSG00000207073', 'score': 0.77}]
chr19	GH19I049527	49527077	49529615	1.86	[{'connected_gene': 'RCN3', 'score': 550.77}, {'connected_gene': 'FCGRT', 'score': 16.3}, {'connected_gene': 'GC19M049536', 'score': 0.44}]
chr19	GH19I049558	49558555	49562894	1.59	[{'connected_gene': 'NOSIP', 'score': 578.48}, {'connected_gene': 'PIR42034', 'score': 550.77}, {'connected_gene': 'PRR12', 'score': 40.9}, {'connected_gene': 'RCN3', 'score': 12.87}, {'connected_gene': 'FCGRT', 'score': 12.19}, {'connected_gene': 'MIR150', 'score': 12.18}, {'connected_gene': 'RPS11', 'score': 12.17}, {'connected_gene': 'SNORD35B', 'score': 12.17}, {'connected_gene': 'SNORD35A', 'score': 11.95}, {'connected_gene': 'SNORD34', 'score': 11.95}, {'connected_gene': 'SNORD33', 'score': 11.94}, {'connected_gene': 'RPL13A', 'score': 11.94}, {'connected_gene': 'SNORD32A', 'score': 11.94}, {'connected_gene': 'FLT3LG', 'score': 11.75}, {'connected_gene': 'PTH2', 'score': 10.55}, {'connected_gene': 'ALDH16A1', 'score': 6.29}, {'connected_gene': 'GC19P049568', 'score': 0.44}]
chr19	GH19I049552	49552499	49558200	1.2	[{'connected_gene': 'NOSIP', 'score': 28.5}, {'connected_gene': 'PRR12', 'score': 28.23}, {'connected_gene': 'FCGRT', 'score': 19.32}, {'connected_gene': 'RCN3', 'score': 12.89}, {'connected_gene': 'PRRG2', 'score': 12.21}, {'connected_gene': 'MIR150', 'score': 12.11}, {'connected_gene': 'RPS11', 'score': 12.1}, {'connected_gene': 'SNORD35B', 'score': 12.1}, {'connected_gene': 'SNORD33', 'score': 11.96}, {'connected_gene': 'SNORD35A', 'score': 11.96}, {'connected_gene': 'SNORD34', 'score': 11.96}, {'connected_gene': 'RPL13A', 'score': 11.95}, {'connected_gene': 'SNORD32A', 'score': 11.95}, {'connected_gene': 'PTH2', 'score': 10.56}, {'connected_gene': 'PIR42034', 'score': 0.77}, {'connected_gene': 'GC19M049536', 'score': 0.34}]
chr19	GH19I049506	49506536	49507223	1.1	[{'connected_gene': 'FCGRT', 'score': 550.77}, {'connected_gene': 'RPS11', 'score': 10.31}, {'connected_gene': 'RCN3', 'score': 5.41}, {'connected_gene': 'FLT3LG', 'score': 5.27}]
chr19	GH19I049511	49511482	49517230	1.94	[{'connected_gene': 'FCGRT', 'score': 564.66}, {'connected_gene': 'PRR12', 'score': 21.47}, {'connected_gene': 'RCN3', 'score': 14.79}, {'connected_gene': 'SNORD33', 'score': 12.92}, {'connected_gene': 'SNORD35A', 'score': 12.92}, {'connected_gene': 'SNORD32A', 'score': 12.92}, {'connected_gene': 'SNORD34', 'score': 12.92}, {'connected_gene': 'RPL13A', 'score': 12.9}, {'connected_gene': 'PRRG2', 'score': 12.63}, {'connected_gene': 'NOSIP', 'score': 12.61}, {'connected_gene': 'FLT3LG', 'score': 11.5}, {'connected_gene': 'SLC17A7', 'score': 10.99}, {'connected_gene': 'RPS11', 'score': 7.8}]
chr19	GH19I049420	49420842	49421313	1	[{'connected_gene': 'GFY', 'score': 550.77}, {'connected_gene': 'RRAS', 'score': 3.44}, {'connected_gene': 'AP2A1', 'score': 2.33}, {'connected_gene': 'NOSIP', 'score': 1.88}, {'connected_gene': 'RCN3', 'score': 1.76}, {'connected_gene': 'PRR12', 'score': 1.27}, {'connected_gene': 'TBC1D17', 'score': 1.23}, {'connected_gene': 'LOC105372433', 'score': 0.77}]
chr19	GH19I049564	49564399	49566606	0.58	[{'connected_gene': 'GC19P049568', 'score': 550.77}, {'connected_gene': 'ENSG00000207073', 'score': 550.77}, {'connected_gene': 'PRR12', 'score': 42.63}, {'connected_gene': 'NOSIP', 'score': 28.89}, {'connected_gene': 'FCGRT', 'score': 12.44}, {'connected_gene': 'MIR150', 'score': 12.42}, {'connected_gene': 'RPS11', 'score': 12.42}, {'connected_gene': 'SNORD35B', 'score': 12.42}, {'connected_gene': 'RCN3', 'score': 12.27}, {'connected_gene': 'SLC17A7', 'score': 10.14}, {'connected_gene': 'PIR42034', 'score': 0.44}]
chr19	GH19I049532	49532665	49535000	1.15	[{'connected_gene': 'GC19M049536', 'score': 550.77}, {'connected_gene': 'RCN3', 'score': 17.05}, {'connected_gene': 'FCGRT', 'score': 15.78}, {'connected_gene': 'PRR12', 'score': 11.82}]