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
ENST00000595125	[[50431958, 50432263], [50432499, 50432657], [50433988, 50434285], [50435678, 50436555]]	[[50434107, 50434285], [50435678, 50436349]]
ENST00000423777	[[50432399, 50432657], [50433988, 50434285], [50435678, 50437192]]	[[50434107, 50434285], [50435678, 50436349]]
ENST00000600336	[[50432473, 50432657], [50433988, 50434486]]	[[50434107, 50434374]]
ENST00000597227	[[50432478, 50432657], [50432957, 50433122], [50433988, 50434285], [50435678, 50435865]]	[[50434107, 50434285], [50435678, 50435865]]
ENST00000596658	[[50433475, 50433689], [50433988, 50434285], [50435678, 50435889]]	[[50434107, 50434285], [50435678, 50435889]]
NM_012068	[[50431958, 50432263], [50432499, 50432657], [50433988, 50434285], [50435678, 50437193]]	[[50434107, 50434285], [50435678, 50436349]]
NM_001193646	[[50432399, 50432657], [50433988, 50434285], [50435678, 50437193]]	[[50434107, 50434285], [50435678, 50436349]]
NM_001290746	[[50433460, 50433689], [50433988, 50434285], [50435678, 50437193]]	[[50434107, 50434285], [50435678, 50436349]]

Promoter

Chrom	Start	End	Description
chr19	50431973	50431998	CAGE_peak_5_at_ATF5_5end
chr19	50431999	50432026	CAGE_peak_4_at_ATF5_5end
chr19	50432104	50432126	CAGE_peak_6_at_ATF5_5end
chr19	50432132	50432217	CAGE_peak_2_at_ATF5_5end
chr19	50432453	50432468	CAGE_peak_1_at_ATF5_5end
chr19	50434005	50434020	CAGE_peak_10_at_ATF5_5end
chr19	50435645	50435653	CAGE_peak_16_at_ATF5_5end
chr19	50435673	50435690	CAGE_peak_8_at_ATF5_5end
chr19	50435704	50435718	CAGE_peak_11_at_ATF5_5end
chr19	50435736	50435781	CAGE_peak_3_at_ATF5_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I049910	49910051	49913925	1.48	[{'connected_gene': 'AKT1S1', 'score': 12.29}, {'connected_gene': 'TBC1D17', 'score': 12.29}, {'connected_gene': 'PTOV1', 'score': 11.88}, {'connected_gene': 'ENSG00000221125', 'score': 10.98}, {'connected_gene': 'NUP62', 'score': 10.41}, {'connected_gene': 'NR1H2', 'score': 8.21}, {'connected_gene': 'IL4I1', 'score': 7.66}, {'connected_gene': 'ATF5', 'score': 7.04}, {'connected_gene': 'FCGRT', 'score': 6.22}, {'connected_gene': 'RPS11', 'score': 3.34}, {'connected_gene': 'PIR32099', 'score': 0.77}, {'connected_gene': 'ENSG00000269179', 'score': 0.25}]
chr19	GH19I049816	49816268	49821222	2.55	[{'connected_gene': 'FUZ', 'score': 561.55}, {'connected_gene': 'MED25', 'score': 559.52}, {'connected_gene': 'PRR12', 'score': 33.42}, {'connected_gene': 'PTOV1-AS2', 'score': 23.76}, {'connected_gene': 'PNKP', 'score': 23.68}, {'connected_gene': 'PTOV1', 'score': 22.59}, {'connected_gene': 'SNRNP70', 'score': 20.42}, {'connected_gene': 'PIH1D1', 'score': 18.62}, {'connected_gene': 'POLD1', 'score': 15.99}, {'connected_gene': 'NUP62', 'score': 13.8}, {'connected_gene': 'SNORD35A', 'score': 13.24}, {'connected_gene': 'RNU6-841P', 'score': 11.77}, {'connected_gene': 'AP2A1', 'score': 11.77}, {'connected_gene': 'TSKS', 'score': 11.76}, {'connected_gene': 'SNORD35B', 'score': 11.27}, {'connected_gene': 'PRMT1', 'score': 11.22}, {'connected_gene': 'ALDH16A1', 'score': 9.93}, {'connected_gene': 'SCAF1', 'score': 9.92}, {'connected_gene': 'PTOV1-AS1', 'score': 7.55}, {'connected_gene': 'ATF5', 'score': 4.71}, {'connected_gene': 'NTF4', 'score': 4.34}, {'connected_gene': 'MIR6800', 'score': 0.39}]
chr19	GH19I050003	50003426	50005284	1.05	[{'connected_gene': 'VRK3', 'score': 32.2}, {'connected_gene': 'DKKL1', 'score': 11.84}, {'connected_gene': 'ZNF473', 'score': 11.57}, {'connected_gene': 'PTOV1', 'score': 11.56}, {'connected_gene': 'SCAF1', 'score': 10.92}, {'connected_gene': 'IL4I1', 'score': 10.87}, {'connected_gene': 'NUP62', 'score': 10.87}, {'connected_gene': 'ATF5', 'score': 10.86}, {'connected_gene': 'SIGLEC16', 'score': 9.5}, {'connected_gene': 'SIGLEC11', 'score': 7.5}, {'connected_gene': 'ENSG00000276729', 'score': 0.39}]
chr19	GH19I049983	49983744	49983893	0.75	[{'connected_gene': 'SIGLEC16', 'score': 31.93}, {'connected_gene': 'ENSG00000221125', 'score': 12.46}, {'connected_gene': 'IL4I1', 'score': 11.83}, {'connected_gene': 'NUP62', 'score': 11.83}, {'connected_gene': 'ATF5', 'score': 11.82}, {'connected_gene': 'ENSG00000276729', 'score': 0.28}, {'connected_gene': 'VRK3', 'score': 0.26}]
chr19	GH19I049980	49980914	49983517	0.73	[{'connected_gene': 'SIGLEC16', 'score': 29.7}, {'connected_gene': 'NUP62', 'score': 26.75}, {'connected_gene': 'VRK3', 'score': 20.9}, {'connected_gene': 'POLD1', 'score': 20.17}, {'connected_gene': 'PTOV1-AS2', 'score': 18.33}, {'connected_gene': 'SNORD35A', 'score': 17.72}, {'connected_gene': 'IRF3', 'score': 16.8}, {'connected_gene': 'SNORD35B', 'score': 16.67}, {'connected_gene': 'SIGLEC11', 'score': 16.33}, {'connected_gene': 'ALDH16A1', 'score': 15.3}, {'connected_gene': 'PNKP', 'score': 13.51}, {'connected_gene': 'ENSG00000221125', 'score': 12.46}, {'connected_gene': 'PRR12', 'score': 12.25}, {'connected_gene': 'PIH1D1', 'score': 11.87}, {'connected_gene': 'IL4I1', 'score': 11.83}, {'connected_gene': 'ATF5', 'score': 11.83}, {'connected_gene': 'SNRNP70', 'score': 11.38}, {'connected_gene': 'RPS11', 'score': 10.61}, {'connected_gene': 'RPL13A', 'score': 10.33}, {'connected_gene': 'ZNF473', 'score': 8.86}, {'connected_gene': 'ENSG00000276729', 'score': 0.28}]
chr19	GH19I049894	49894601	49898655	2.09	[{'connected_gene': 'IL4I1', 'score': 553.79}, {'connected_gene': 'NUP62', 'score': 17.49}, {'connected_gene': 'POLD1', 'score': 12.3}, {'connected_gene': 'AKT1S1', 'score': 12.03}, {'connected_gene': 'MED25', 'score': 10.24}, {'connected_gene': 'NR1H2', 'score': 10.02}, {'connected_gene': 'PNKP', 'score': 7.48}, {'connected_gene': 'PTOV1-AS2', 'score': 5.95}, {'connected_gene': 'ATF5', 'score': 5.82}, {'connected_gene': 'TBC1D17', 'score': 5.27}, {'connected_gene': 'FCGRT', 'score': 5.04}, {'connected_gene': 'RPS11', 'score': 2.84}, {'connected_gene': 'ALDH16A1', 'score': 1.81}, {'connected_gene': 'MIR4750', 'score': 0.44}, {'connected_gene': 'PIR32099', 'score': 0.39}]
chr19	GH19I049916	49916831	49917864	0.92	[{'connected_gene': 'NUP62', 'score': 12.2}, {'connected_gene': 'IL4I1', 'score': 5.57}, {'connected_gene': 'ATF5', 'score': 0.39}, {'connected_gene': 'PIR32099', 'score': 0.39}, {'connected_gene': 'ENSG00000269179', 'score': 0.26}]
chr19	GH19I049926	49926570	49931343	2.11	[{'connected_gene': 'NUP62', 'score': 621.18}, {'connected_gene': 'ATF5', 'score': 561.31}, {'connected_gene': 'IL4I1', 'score': 550.77}, {'connected_gene': 'POLD1', 'score': 51.21}, {'connected_gene': 'IRF3', 'score': 49.87}, {'connected_gene': 'SNORD35A', 'score': 41.39}, {'connected_gene': 'SNORD35B', 'score': 40.8}, {'connected_gene': 'ALDH16A1', 'score': 37.89}, {'connected_gene': 'PNKP', 'score': 34.99}, {'connected_gene': 'PTOV1-AS2', 'score': 34.31}, {'connected_gene': 'PRR12', 'score': 31.93}, {'connected_gene': 'RPS11', 'score': 23.63}, {'connected_gene': 'PIH1D1', 'score': 23.4}, {'connected_gene': 'SNRNP70', 'score': 23.29}, {'connected_gene': 'RPL13A', 'score': 20.82}, {'connected_gene': 'BAX', 'score': 20.22}, {'connected_gene': 'PTOV1', 'score': 18.48}, {'connected_gene': 'CPT1C', 'score': 15.11}, {'connected_gene': 'SCAF1', 'score': 13.38}, {'connected_gene': 'C19orf48', 'score': 12.09}, {'connected_gene': 'AKT1S1', 'score': 11.45}, {'connected_gene': 'PRMT1', 'score': 10.29}, {'connected_gene': 'MED25', 'score': 10.19}, {'connected_gene': 'FLT3LG', 'score': 9.94}, {'connected_gene': 'PTOV1-AS1', 'score': 4.84}, {'connected_gene': 'ENSG00000269179', 'score': 0.31}]
chr19	GH19I049921	49921322	49924721	1.41	[{'connected_gene': 'FCGRT', 'score': 12.93}, {'connected_gene': 'CPT1C', 'score': 12.83}, {'connected_gene': 'NUP62', 'score': 12.44}, {'connected_gene': 'FLT3LG', 'score': 10.38}, {'connected_gene': 'IL4I1', 'score': 8.11}, {'connected_gene': 'NR1H2', 'score': 7.0}, {'connected_gene': 'PTOV1-AS1', 'score': 4.96}, {'connected_gene': 'ATF5', 'score': 2.32}, {'connected_gene': 'RPS11', 'score': 2.22}, {'connected_gene': 'PIR32099', 'score': 0.37}, {'connected_gene': 'ENSG00000269179', 'score': 0.28}]
chr19	GH19I049023	49023970	49024029	0.5	[{'connected_gene': 'CGB3', 'score': 550.77}, {'connected_gene': 'KCNA7', 'score': 12.22}, {'connected_gene': 'ATF5', 'score': 4.43}, {'connected_gene': 'LOC101059948', 'score': 0.77}, {'connected_gene': 'ENSG00000267335', 'score': 0.39}]
chr19	GH19I049857	49857387	49864060	1.13	[{'connected_gene': 'PTOV1-AS2', 'score': 568.38}, {'connected_gene': 'AKT1S1', 'score': 19.63}, {'connected_gene': 'PNKP', 'score': 17.04}, {'connected_gene': 'PRR12', 'score': 11.15}, {'connected_gene': 'NUP62', 'score': 10.58}, {'connected_gene': 'PTOV1', 'score': 6.31}, {'connected_gene': 'FUZ', 'score': 5.66}, {'connected_gene': 'ATF5', 'score': 4.41}, {'connected_gene': 'PRRG2', 'score': 1.92}, {'connected_gene': 'MYH14', 'score': 1.39}, {'connected_gene': 'GC19P049856', 'score': 0.77}, {'connected_gene': 'PIR46791', 'score': 0.37}]
chr19	GH19I049934	49933664	49933770	0.64	[{'connected_gene': 'MIR4751', 'score': 550.77}, {'connected_gene': 'NUP62', 'score': 11.38}, {'connected_gene': 'ATF5', 'score': 0.44}, {'connected_gene': 'GC19M049951', 'score': 0.37}, {'connected_gene': 'ENSG00000221125', 'score': 0.37}, {'connected_gene': 'ENSG00000269179', 'score': 0.34}]
chr19	GH19I049932	49932745	49933277	0.69	[{'connected_gene': 'MIR4751', 'score': 550.77}, {'connected_gene': 'NUP62', 'score': 11.45}, {'connected_gene': 'ATF5', 'score': 0.77}, {'connected_gene': 'ENSG00000269179', 'score': 0.31}]
chr19	GH19I049933	49932304	49932433	0.62	[{'connected_gene': 'MIR4751', 'score': 550.77}, {'connected_gene': 'ATF5', 'score': 0.77}, {'connected_gene': 'NUP62', 'score': 0.77}, {'connected_gene': 'ENSG00000269179', 'score': 0.31}]
chr19	GH19I049908	49908144	49908293	0.43	[{'connected_gene': 'PIR32099', 'score': 550.77}, {'connected_gene': 'AKT1S1', 'score': 12.31}, {'connected_gene': 'TBC1D17', 'score': 12.29}, {'connected_gene': 'PTOV1', 'score': 11.89}, {'connected_gene': 'ENSG00000221125', 'score': 10.86}, {'connected_gene': 'IL4I1', 'score': 0.34}, {'connected_gene': 'ATF5', 'score': 0.34}, {'connected_gene': 'NUP62', 'score': 0.34}]
chr19	GH19I049905	49905975	49907173	0.56	[{'connected_gene': 'PIR32099', 'score': 550.77}, {'connected_gene': 'AKT1S1', 'score': 17.29}, {'connected_gene': 'TBC1D17', 'score': 12.31}, {'connected_gene': 'PTOV1', 'score': 11.89}, {'connected_gene': 'ENSG00000221125', 'score': 10.86}, {'connected_gene': 'ATF5', 'score': 5.49}, {'connected_gene': 'IL4I1', 'score': 5.17}, {'connected_gene': 'MIR4750', 'score': 0.37}, {'connected_gene': 'NUP62', 'score': 0.34}]