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
ENST00000401705	[[45992034, 45992237], [46003206, 46003324], [46003713, 46003819], [46003907, 46003968], [46005274, 46005557]]	[[46003221, 46003324], [46003713, 46003819], [46003907, 46003968], [46005274, 46005343]]
ENST00000456399	[[46000488, 46000601], [46003211, 46003324], [46003713, 46003819], [46005274, 46005560]]	[[46003221, 46003324], [46003713, 46003819], [46005274, 46005458]]
ENST00000396737	[[46000508, 46000601], [46003206, 46003324], [46003713, 46003819], [46003907, 46003968], [46005274, 46005768]]	[[46003221, 46003324], [46003713, 46003819], [46003907, 46003968], [46005274, 46005343]]
ENST00000451287	[[46001730, 46002669], [46003206, 46003324], [46003713, 46003819], [46003907, 46003968], [46005274, 46005343]]	[[46001730, 46002669], [46003206, 46003324], [46003713, 46003819], [46003907, 46003968], [46005274, 46005343]]
ENST00000324688	[[46001864, 46003324], [46003713, 46003819], [46003907, 46003968], [46005274, 46005566]]	[[46001964, 46002987]]
ENST00000415077	[[46001864, 46003324], [46003713, 46003819], [46003907, 46003968], [46005274, 46005600]]	[[46001864, 46002987]]
ENST00000396735	[[46002867, 46002983], [46003206, 46003324], [46003713, 46003819], [46003907, 46003968], [46005274, 46005768]]	[[46003221, 46003324], [46003713, 46003819], [46003907, 46003968], [46005274, 46005343]]
ENST00000401593	[[46003206, 46003324], [46003713, 46003819], [46003938, 46003968], [46005274, 46005568]]	[[46003221, 46003324], [46003713, 46003819], [46003938, 46003968], [46005274, 46005458]]
ENST00000396736	[[46003218, 46003324], [46003713, 46003819], [46003947, 46003968], [46005274, 46005568]]	[[46003221, 46003324], [46003713, 46003819], [46003947, 46003968], [46005274, 46005458]]
NM_001080401	[[46001730, 46002669], [46003206, 46003324], [46003713, 46003819], [46003907, 46003968], [46005274, 46005768]]	[[46001730, 46002669], [46003206, 46003324], [46003713, 46003819], [46003907, 46003968], [46005274, 46005343]]

Promoter

Chrom	Start	End	Description
chr19	46000479	46000502	CAGE_peak_1_at_PPM1N_5end
chr19	46000506	46000536	CAGE_peak_2_at_PPM1N_5end
chr19	46001697	46001729	CAGE_peak_7_at_PPM1N_5end
chr19	46002944	46002966	CAGE_peak_3_at_PPM1N_5end
chr19	46002982	46002998	CAGE_peak_8_at_PPM1N_5end
chr19	46003039	46003051	CAGE_peak_6_at_PPM1N_5end
chr19	46003056	46003067	CAGE_peak_11_at_PPM1N_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I045505	45505037	45510654	2.61	[{'connected_gene': 'VASP', 'score': 581.45}, {'connected_gene': 'CCDC61', 'score': 35.44}, {'connected_gene': 'CLASRP', 'score': 34.67}, {'connected_gene': 'PPM1N', 'score': 27.87}, {'connected_gene': 'ENSG00000269148', 'score': 26.32}, {'connected_gene': 'FBXO46', 'score': 23.69}, {'connected_gene': 'ENSG00000268810', 'score': 13.43}, {'connected_gene': 'SYMPK', 'score': 12.04}, {'connected_gene': 'BLOC1S3', 'score': 1.87}, {'connected_gene': 'ZNF296', 'score': 1.3}, {'connected_gene': 'GC19P045505', 'score': 0.77}, {'connected_gene': 'GC19P045560', 'score': 0.23}]
chr19	GH19I045571	45571215	45572080	0.31	[{'connected_gene': 'VASP', 'score': 12.04}, {'connected_gene': 'EML2', 'score': 11.99}, {'connected_gene': 'RN7SL836P', 'score': 11.98}, {'connected_gene': 'GIPR', 'score': 11.95}, {'connected_gene': 'RTN2', 'score': 11.74}, {'connected_gene': 'PPM1N', 'score': 11.72}, {'connected_gene': 'MIR330', 'score': 11.64}, {'connected_gene': 'MIR642A', 'score': 11.41}, {'connected_gene': 'ERCC1', 'score': 11.31}, {'connected_gene': 'CD3EAP', 'score': 10.07}, {'connected_gene': 'PPP1R13L', 'score': 10.07}, {'connected_gene': 'OPA3', 'score': 9.57}, {'connected_gene': 'GC19P045560', 'score': 0.39}, {'connected_gene': 'GPR4', 'score': 0.29}]
chr19	GH19I045465	45465091	45465350	0.51	[{'connected_gene': 'VASP', 'score': 14.33}, {'connected_gene': 'PPM1N', 'score': 11.67}, {'connected_gene': 'RTN2', 'score': 11.62}, {'connected_gene': 'RELB', 'score': 6.64}, {'connected_gene': 'FOSB', 'score': 4.52}, {'connected_gene': 'CLASRP', 'score': 2.67}, {'connected_gene': 'GIPR', 'score': 1.51}, {'connected_gene': 'ERCC1', 'score': 0.39}, {'connected_gene': 'MIR6088', 'score': 0.31}]
chr19	GH19I045567	45567979	45570401	1.29	[{'connected_gene': 'CCDC61', 'score': 17.54}, {'connected_gene': 'SYMPK', 'score': 14.06}, {'connected_gene': 'OPA3', 'score': 13.02}, {'connected_gene': 'CLASRP', 'score': 12.14}, {'connected_gene': 'BLOC1S3', 'score': 12.08}, {'connected_gene': 'VASP', 'score': 12.05}, {'connected_gene': 'ENSG00000269148', 'score': 11.72}, {'connected_gene': 'FBXO46', 'score': 11.6}, {'connected_gene': 'RTN2', 'score': 11.58}, {'connected_gene': 'PPM1N', 'score': 11.57}, {'connected_gene': 'MIR330', 'score': 11.45}, {'connected_gene': 'EML2', 'score': 11.44}, {'connected_gene': 'MIR642A', 'score': 11.4}, {'connected_gene': 'ERCC1', 'score': 10.86}, {'connected_gene': 'QPCTL', 'score': 10.64}, {'connected_gene': 'CD3EAP', 'score': 10.07}, {'connected_gene': 'PPP1R13L', 'score': 10.07}, {'connected_gene': 'GC19P045560', 'score': 0.44}, {'connected_gene': 'GPR4', 'score': 0.29}]
chr19	GH19I045500	45496019	45496343	0.86	[{'connected_gene': 'RTN2', 'score': 553.68}, {'connected_gene': 'NOVA2', 'score': 3.05}, {'connected_gene': 'DMPK', 'score': 1.18}, {'connected_gene': 'PPM1N', 'score': 0.44}]
chr19	GH19I045492	45492131	45494252	2.19	[{'connected_gene': 'RTN2', 'score': 557.37}, {'connected_gene': 'PPM1N', 'score': 29.58}, {'connected_gene': 'CLASRP', 'score': 13.16}, {'connected_gene': 'CCDC61', 'score': 12.57}, {'connected_gene': 'ZNF180', 'score': 12.44}, {'connected_gene': 'NKPD1', 'score': 2.27}, {'connected_gene': 'NANOS2', 'score': 2.03}, {'connected_gene': 'EXOC3L2', 'score': 1.7}]
chr19	GH19I045497	45497983	45498132	0.38	[{'connected_gene': 'RTN2', 'score': 550.77}, {'connected_gene': 'PPM1N', 'score': 0.44}, {'connected_gene': 'GC19P045503', 'score': 0.44}]
chr19	GH19I045496	45496400	45497674	1.98	[{'connected_gene': 'RTN2', 'score': 550.77}, {'connected_gene': 'PPM1N', 'score': 29.36}]
chr19	GH19I045499	45498163	45498450	0.54	[{'connected_gene': 'RTN2', 'score': 550.77}, {'connected_gene': 'GC19P045503', 'score': 0.77}, {'connected_gene': 'PPM1N', 'score': 0.44}]
chr19	GH19I045477	45477087	45479512	2.07	[{'connected_gene': 'ERCC1', 'score': 557.05}, {'connected_gene': 'PIR58452', 'score': 550.77}, {'connected_gene': 'TRU-TCA1-1', 'score': 550.77}, {'connected_gene': 'ZNF180', 'score': 37.3}, {'connected_gene': 'CCDC61', 'score': 20.48}, {'connected_gene': 'CD3EAP', 'score': 19.25}, {'connected_gene': 'IRF2BP1', 'score': 14.26}, {'connected_gene': 'CLASRP', 'score': 13.84}, {'connected_gene': 'PPP1R37', 'score': 13.8}, {'connected_gene': 'ENSG00000268810', 'score': 12.93}, {'connected_gene': 'PPM1N', 'score': 12.68}, {'connected_gene': 'CEACAM19', 'score': 12.22}, {'connected_gene': 'VASP', 'score': 11.92}, {'connected_gene': 'PPP1R13L', 'score': 11.7}, {'connected_gene': 'EML2', 'score': 10.98}, {'connected_gene': 'SNRPD2', 'score': 10.84}, {'connected_gene': 'ERCC2', 'score': 10.51}, {'connected_gene': 'PPP5C', 'score': 10.14}, {'connected_gene': 'MIR330', 'score': 10.06}, {'connected_gene': 'FOSB', 'score': 3.47}, {'connected_gene': 'RELB', 'score': 2.62}, {'connected_gene': 'GIPR', 'score': 2.57}, {'connected_gene': 'TRAPPC6A', 'score': 1.33}, {'connected_gene': 'FBXO46', 'score': 1.24}, {'connected_gene': 'GC19P045474', 'score': 0.77}]
chr19	GH19I045498	45498463	45500073	1.28	[{'connected_gene': 'PPM1N', 'score': 557.03}, {'connected_gene': 'ENSG00000268810', 'score': 14.45}, {'connected_gene': 'SYMPK', 'score': 13.47}, {'connected_gene': 'IRF2BP1', 'score': 12.22}, {'connected_gene': 'ZNF180', 'score': 12.15}, {'connected_gene': 'ENSG00000267114', 'score': 10.77}, {'connected_gene': 'QPCTL', 'score': 10.63}, {'connected_gene': 'GC19P045503', 'score': 0.77}, {'connected_gene': 'RTN2', 'score': 0.77}]
chr19	GH19I045520	45520193	45524412	1.12	[{'connected_gene': 'PPM1N', 'score': 22.69}, {'connected_gene': 'OPA3', 'score': 5.48}, {'connected_gene': 'MARK4', 'score': 4.91}, {'connected_gene': 'VASP', 'score': 0.37}, {'connected_gene': 'GC19P045560', 'score': 0.28}]
chr19	GH19I045512	45512849	45516742	1.5	[{'connected_gene': 'PPM1N', 'score': 21.57}, {'connected_gene': 'VASP', 'score': 21.39}, {'connected_gene': 'CLASRP', 'score': 5.38}, {'connected_gene': 'MARK4', 'score': 4.45}, {'connected_gene': 'FOSB', 'score': 2.1}, {'connected_gene': 'BLOC1S3', 'score': 1.86}, {'connected_gene': 'GIPR', 'score': 1.46}, {'connected_gene': 'GC19P045560', 'score': 0.25}]
chr19	GH19I045517	45517200	45518479	0.52	[{'connected_gene': 'PPM1N', 'score': 22.45}, {'connected_gene': 'VASP', 'score': 0.39}, {'connected_gene': 'GC19P045560', 'score': 0.26}]
chr19	GH19I045484	45484883	45486492	1.38	[{'connected_gene': 'PPM1N', 'score': 5.32}, {'connected_gene': 'ERCC1', 'score': 0.44}, {'connected_gene': 'RTN2', 'score': 0.39}]
chr19	GH19I045485	45484323	45484512	0.69	[{'connected_gene': 'PPM1N', 'score': 0.77}, {'connected_gene': 'ERCC1', 'score': 0.44}]
chr19	GH19I045320	45320298	45324998	1.88	[{'connected_gene': 'CKM', 'score': 560.87}, {'connected_gene': 'KLC3', 'score': 9.39}, {'connected_gene': 'MARK4', 'score': 9.32}, {'connected_gene': 'ERCC2', 'score': 8.82}, {'connected_gene': 'DMPK', 'score': 7.88}, {'connected_gene': 'RTN2', 'score': 5.53}, {'connected_gene': 'PPM1N', 'score': 4.81}, {'connected_gene': 'CD3EAP', 'score': 4.68}, {'connected_gene': 'GC19M045307', 'score': 0.39}]
chr19	GH19I045483	45483815	45484069	0.28	[{'connected_gene': 'CLASRP', 'score': 1.72}, {'connected_gene': 'RELB', 'score': 1.62}, {'connected_gene': 'NOVA2', 'score': 1.21}, {'connected_gene': 'PPM1N', 'score': 0.77}, {'connected_gene': 'ERCC1', 'score': 0.44}]
chr19	GH19I045446	45446081	45452954	2.29	[{'connected_gene': 'CD3EAP', 'score': 13.41}, {'connected_gene': 'ENSG00000268810', 'score': 10.94}, {'connected_gene': 'ERCC1', 'score': 10.66}, {'connected_gene': 'GIPR', 'score': 6.62}, {'connected_gene': 'RTN2', 'score': 5.49}, {'connected_gene': 'RELB', 'score': 5.08}, {'connected_gene': 'FOSB', 'score': 4.11}, {'connected_gene': 'CLASRP', 'score': 2.63}, {'connected_gene': 'PPM1N', 'score': 2.61}, {'connected_gene': 'TRAPPC6A', 'score': 1.57}, {'connected_gene': 'BLOC1S3', 'score': 1.32}, {'connected_gene': 'MIR6088', 'score': 0.39}]
chr19	GH19I045401	45401488	45407656	2.56	[{'connected_gene': 'CD3EAP', 'score': 580.45}, {'connected_gene': 'PPP1R13L', 'score': 554.58}, {'connected_gene': 'CCDC61', 'score': 79.13}, {'connected_gene': 'ZNF180', 'score': 71.0}, {'connected_gene': 'CLASRP', 'score': 61.45}, {'connected_gene': 'FBXO46', 'score': 58.33}, {'connected_gene': 'ENSG00000269148', 'score': 58.06}, {'connected_gene': 'IRF2BP1', 'score': 21.26}, {'connected_gene': 'ERCC1', 'score': 20.6}, {'connected_gene': 'ENSG00000268810', 'score': 20.45}, {'connected_gene': 'EML2', 'score': 12.8}, {'connected_gene': 'SYMPK', 'score': 12.03}, {'connected_gene': 'PPM1N', 'score': 11.98}, {'connected_gene': 'RTN2', 'score': 11.96}, {'connected_gene': 'VASP', 'score': 11.69}, {'connected_gene': 'ERCC2', 'score': 11.67}, {'connected_gene': 'DMWD', 'score': 11.34}, {'connected_gene': 'QPCTL', 'score': 11.32}, {'connected_gene': 'MIR330', 'score': 10.49}, {'connected_gene': 'ENSG00000259605', 'score': 10.33}, {'connected_gene': 'ENSG00000267114', 'score': 10.24}, {'connected_gene': 'APOE', 'score': 4.71}, {'connected_gene': 'KLC3', 'score': 4.5}]
chr19	GH19I045511	45511759	45512341	0.38	[{'connected_gene': 'EML2-AS1', 'score': 4.96}, {'connected_gene': 'PPM1N', 'score': 4.73}, {'connected_gene': 'VASP', 'score': 0.44}, {'connected_gene': 'GC19P045560', 'score': 0.25}]
chr19	GH19I045466	45466964	45471228	2.27	[{'connected_gene': 'GC19P045469', 'score': 550.77}, {'connected_gene': 'FOSB', 'score': 550.77}, {'connected_gene': 'ZNF180', 'score': 28.95}, {'connected_gene': 'CLASRP', 'score': 27.63}, {'connected_gene': 'CCDC61', 'score': 25.38}, {'connected_gene': 'CD3EAP', 'score': 20.86}, {'connected_gene': 'FBXO46', 'score': 20.52}, {'connected_gene': 'ENSG00000269148', 'score': 14.79}, {'connected_gene': 'ENSG00000268810', 'score': 13.43}, {'connected_gene': 'BLOC1S3', 'score': 12.14}, {'connected_gene': 'PPP1R13L', 'score': 12.02}, {'connected_gene': 'RTN2', 'score': 11.91}, {'connected_gene': 'VASP', 'score': 11.87}, {'connected_gene': 'IGFL4', 'score': 10.6}, {'connected_gene': 'IRF2BP1', 'score': 10.09}, {'connected_gene': 'ERCC1', 'score': 7.97}, {'connected_gene': 'PPM1N', 'score': 5.78}]
chr19	GH19I045501	45501601	45502800	1.03	[{'connected_gene': 'GC19P045503', 'score': 550.77}, {'connected_gene': 'PPM1N', 'score': 5.38}, {'connected_gene': 'RTN2', 'score': 0.44}]
chr19	GH19I045527	45527665	45529600	1.25	[{'connected_gene': 'ENSG00000268810', 'score': 25.37}, {'connected_gene': 'PPM1N', 'score': 22.26}, {'connected_gene': 'ENSG00000267114', 'score': 12.47}, {'connected_gene': 'CLASRP', 'score': 12.47}, {'connected_gene': 'IRF2BP1', 'score': 12.21}, {'connected_gene': 'QPCTL', 'score': 10.48}, {'connected_gene': 'CCDC61', 'score': 10.0}, {'connected_gene': 'VASP', 'score': 0.34}, {'connected_gene': 'GC19P045560', 'score': 0.29}, {'connected_gene': 'OPA3', 'score': 0.19}]
chr19	GH19I045442	45442121	45445799	1.88	[{'connected_gene': 'ENSG00000268810', 'score': 24.01}, {'connected_gene': 'CD3EAP', 'score': 22.9}, {'connected_gene': 'RELB', 'score': 18.34}, {'connected_gene': 'ZNF180', 'score': 17.32}, {'connected_gene': 'PPP1R13L', 'score': 13.71}, {'connected_gene': 'ERCC1', 'score': 13.32}, {'connected_gene': 'PPM1N', 'score': 13.29}, {'connected_gene': 'RTN2', 'score': 13.26}, {'connected_gene': 'CLASRP', 'score': 12.57}, {'connected_gene': 'FOSB', 'score': 10.15}, {'connected_gene': 'VASP', 'score': 6.86}, {'connected_gene': 'GIPR', 'score': 2.29}, {'connected_gene': 'BLOC1S3', 'score': 2.15}, {'connected_gene': 'MIR6088', 'score': 0.44}]
chr19	GH19I045472	45472201	45476847	1.12	[{'connected_gene': 'GC19P045474', 'score': 550.77}, {'connected_gene': 'CD3EAP', 'score': 12.02}, {'connected_gene': 'PPP1R13L', 'score': 12.02}, {'connected_gene': 'RTN2', 'score': 11.95}, {'connected_gene': 'VASP', 'score': 11.9}, {'connected_gene': 'ERCC2', 'score': 11.05}, {'connected_gene': 'EML2', 'score': 10.97}, {'connected_gene': 'MIR330', 'score': 10.85}, {'connected_gene': 'ERCC1', 'score': 9.93}, {'connected_gene': 'PPM1N', 'score': 5.81}, {'connected_gene': 'OPA3', 'score': 4.96}, {'connected_gene': 'GC19P045469', 'score': 0.77}, {'connected_gene': 'FOSB', 'score': 0.44}]