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
ENST00000599612	[[18303991, 18304278], [18304673, 18304844], [18305586, 18305663], [18305767, 18305896], [18306808, 18307552]]	[[18304091, 18304278], [18304673, 18304844], [18305586, 18305663], [18305767, 18305896], [18306808, 18306865]]
ENST00000534421	[[18304027, 18304278], [18304673, 18304970]]	None
ENST00000532896	[[18304041, 18304844], [18305767, 18305896], [18306808, 18307552]]	None
ENST00000533807	[[18304059, 18304844], [18305586, 18305663], [18305767, 18305896], [18306808, 18307758]]	None
NM_032683	[[18304039, 18304278], [18304673, 18304844], [18305586, 18305663], [18305767, 18305896], [18306808, 18307552]]	[[18304091, 18304278], [18304673, 18304844], [18305586, 18305663], [18305767, 18305896], [18306808, 18306865]]

Promoter

Chrom	Start	End	Description
chr19	18304008	18304039	CAGE_peak_2_at_MPV17L2_5end
chr19	18304041	18304087	CAGE_peak_1_at_MPV17L2_5end
chr19	18304166	18304180	CAGE_peak_3_at_MPV17L2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I018160	18160271	18162350	1.57	[{'connected_gene': 'MPV17L2', 'score': 12.54}, {'connected_gene': 'PIR53058', 'score': 0.44}, {'connected_gene': 'PIK3R2', 'score': 0.44}, {'connected_gene': 'ENSG00000268173', 'score': 0.44}, {'connected_gene': 'IFI30', 'score': 0.39}]
chr19	GH19I018191	18191326	18195425	2.07	[{'connected_gene': 'MPV17L2', 'score': 559.49}, {'connected_gene': 'PDE4C', 'score': 24.75}, {'connected_gene': 'IQCN', 'score': 21.06}, {'connected_gene': 'UPF1', 'score': 19.81}, {'connected_gene': 'ENSG00000268030', 'score': 12.62}, {'connected_gene': 'COLGALT1', 'score': 12.36}, {'connected_gene': 'FCHO1', 'score': 10.67}, {'connected_gene': 'ELL', 'score': 10.61}, {'connected_gene': 'IL12RB1', 'score': 7.49}, {'connected_gene': 'ARRDC2', 'score': 4.94}, {'connected_gene': 'RAB3A', 'score': 0.39}]
chr19	GH19I017787	17787557	17787950	0.31	[{'connected_gene': 'MPV17L2', 'score': 4.55}, {'connected_gene': 'B3GNT3', 'score': 0.44}, {'connected_gene': 'GC19M017755', 'score': 0.34}, {'connected_gene': 'FCHO1', 'score': 0.26}]
chr19	GH19I018215	18215067	18215412	0.49	[{'connected_gene': 'IQCN', 'score': 22.17}, {'connected_gene': 'PDE4C', 'score': 21.05}, {'connected_gene': 'MPV17L2', 'score': 12.73}, {'connected_gene': 'LSM4', 'score': 11.78}, {'connected_gene': 'LOC102725254', 'score': 0.39}, {'connected_gene': 'LOC729966', 'score': 0.26}]
chr19	GH19I018596	18596311	18597326	1.02	[{'connected_gene': 'UBA52', 'score': 8.75}, {'connected_gene': 'REX1BD', 'score': 6.13}, {'connected_gene': 'MPV17L2', 'score': 4.79}, {'connected_gene': 'TMEM59L', 'score': 0.39}, {'connected_gene': 'CRLF1', 'score': 0.39}]
chr19	GH19I018202	18202634	18202700	0.58	[{'connected_gene': 'RAB3A', 'score': 550.77}, {'connected_gene': 'MPV17L2', 'score': 0.44}]
chr19	GH19I018203	18202778	18209116	2.45	[{'connected_gene': 'RAB3A', 'score': 550.77}, {'connected_gene': 'LOC102725254', 'score': 550.77}, {'connected_gene': 'IQCN', 'score': 43.16}, {'connected_gene': 'UPF1', 'score': 38.42}, {'connected_gene': 'ENSG00000268030', 'score': 33.22}, {'connected_gene': 'PDE4C', 'score': 25.88}, {'connected_gene': 'ENSG00000268938', 'score': 25.63}, {'connected_gene': 'NR2C2AP', 'score': 23.74}, {'connected_gene': 'ENSG00000269191', 'score': 21.04}, {'connected_gene': 'COLGALT1', 'score': 19.81}, {'connected_gene': 'ELL', 'score': 19.48}, {'connected_gene': 'MVB12A', 'score': 13.5}, {'connected_gene': 'LSM4', 'score': 11.46}, {'connected_gene': 'MEF2B', 'score': 11.28}, {'connected_gene': 'PLVAP', 'score': 10.03}, {'connected_gene': 'KXD1', 'score': 10.01}, {'connected_gene': 'RFXANK', 'score': 9.99}, {'connected_gene': 'MPV17L2', 'score': 7.73}, {'connected_gene': 'IL12RB1', 'score': 5.3}, {'connected_gene': 'LOC729966', 'score': 0.25}]
chr19	GH19I018328	18328011	18329728	1.4	[{'connected_gene': 'PGPEP1', 'score': 16.05}, {'connected_gene': 'LSM4', 'score': 14.82}, {'connected_gene': 'LRRC25', 'score': 13.19}, {'connected_gene': 'MPV17L2', 'score': 11.19}, {'connected_gene': 'RN7SL513P', 'score': 0.77}]
chr19	GH19I018150	18150673	18154911	2.28	[{'connected_gene': 'PIK3R2', 'score': 550.77}, {'connected_gene': 'ENSG00000268173', 'score': 550.77}, {'connected_gene': 'ENSG00000269145', 'score': 550.77}, {'connected_gene': 'PDE4C', 'score': 21.71}, {'connected_gene': 'ENSG00000268030', 'score': 21.19}, {'connected_gene': 'UPF1', 'score': 19.99}, {'connected_gene': 'ENSG00000268938', 'score': 17.68}, {'connected_gene': 'COLGALT1', 'score': 15.47}, {'connected_gene': 'ENSG00000269191', 'score': 15.1}, {'connected_gene': 'GTPBP3', 'score': 12.55}, {'connected_gene': 'MPV17L2', 'score': 11.83}, {'connected_gene': 'PLVAP', 'score': 11.57}, {'connected_gene': 'IQCN', 'score': 11.38}, {'connected_gene': 'MVB12A', 'score': 11.09}, {'connected_gene': 'ELL', 'score': 10.29}, {'connected_gene': 'IFI30', 'score': 5.5}, {'connected_gene': 'MAST3', 'score': 0.22}]
chr19	GH19I018226	18226428	18226487	0.68	[{'connected_gene': 'PDE4C', 'score': 563.47}, {'connected_gene': 'MPV17L2', 'score': 12.22}, {'connected_gene': 'IQCN', 'score': 8.62}, {'connected_gene': 'LOC102725254', 'score': 0.34}, {'connected_gene': 'LOC729966', 'score': 0.31}]
chr19	GH19I018178	18178734	18179687	0.2	[{'connected_gene': 'PDE4C', 'score': 9.48}, {'connected_gene': 'MPV17L2', 'score': 7.97}, {'connected_gene': 'ARRDC2', 'score': 4.58}, {'connected_gene': 'IFI30', 'score': 0.44}]
chr19	GH19I018179	18179913	18181859	0.99	[{'connected_gene': 'PDE4C', 'score': 13.37}, {'connected_gene': 'MPV17L2', 'score': 8.09}, {'connected_gene': 'IFI30', 'score': 0.44}]
chr19	GH19I018223	18223491	18226242	2.05	[{'connected_gene': 'PDE4C', 'score': 586.5}, {'connected_gene': 'IQCN', 'score': 22.06}, {'connected_gene': 'MPV17L2', 'score': 19.62}, {'connected_gene': 'PLVAP', 'score': 11.56}, {'connected_gene': 'LSM4', 'score': 11.31}, {'connected_gene': 'LOC102725254', 'score': 0.34}, {'connected_gene': 'LOC729966', 'score': 0.29}]
chr19	GH19I018220	18220733	18220780	0.56	[{'connected_gene': 'PDE4C', 'score': 12.93}, {'connected_gene': 'IQCN', 'score': 12.45}, {'connected_gene': 'MPV17L2', 'score': 12.09}, {'connected_gene': 'LSM4', 'score': 11.31}, {'connected_gene': 'LOC102725254', 'score': 0.37}, {'connected_gene': 'LOC729966', 'score': 0.29}]
chr19	GH19I018221	18220794	18221335	0.57	[{'connected_gene': 'PDE4C', 'score': 12.93}, {'connected_gene': 'IQCN', 'score': 12.45}, {'connected_gene': 'MPV17L2', 'score': 12.09}, {'connected_gene': 'LSM4', 'score': 11.31}, {'connected_gene': 'LOC102725254', 'score': 0.37}, {'connected_gene': 'LOC729966', 'score': 0.29}]
chr19	GH19I018195	18195764	18196329	0.46	[{'connected_gene': 'PDE4C', 'score': 11.97}, {'connected_gene': 'LSM4', 'score': 11.2}, {'connected_gene': 'IQCN', 'score': 9.72}, {'connected_gene': 'MPV17L2', 'score': 9.29}, {'connected_gene': 'RAB3A', 'score': 0.44}]
chr19	GH19I018185	18185591	18186036	0.2	[{'connected_gene': 'PDE4C', 'score': 16.92}, {'connected_gene': 'LSM4', 'score': 11.47}, {'connected_gene': 'IQCN', 'score': 5.88}, {'connected_gene': 'MPV17L2', 'score': 0.44}, {'connected_gene': 'IFI30', 'score': 0.39}]
chr19	GH19I018277	18277429	18283826	2.52	[{'connected_gene': 'JUND', 'score': 555.06}, {'connected_gene': 'MIR3188', 'score': 550.77}, {'connected_gene': 'PIR55689', 'score': 550.77}, {'connected_gene': 'GC19P020223', 'score': 550.77}, {'connected_gene': 'IQCN', 'score': 54.6}, {'connected_gene': 'UPF1', 'score': 48.68}, {'connected_gene': 'ENSG00000268030', 'score': 42.43}, {'connected_gene': 'ENSG00000268938', 'score': 39.18}, {'connected_gene': 'NR2C2AP', 'score': 37.02}, {'connected_gene': 'ENSG00000269191', 'score': 31.06}, {'connected_gene': 'COLGALT1', 'score': 29.43}, {'connected_gene': 'MVB12A', 'score': 23.33}, {'connected_gene': 'MEF2B', 'score': 21.91}, {'connected_gene': 'ELL', 'score': 19.49}, {'connected_gene': 'PDE4C', 'score': 17.21}, {'connected_gene': 'LSM4', 'score': 12.91}, {'connected_gene': 'TMEM161A', 'score': 11.93}, {'connected_gene': 'PGLS', 'score': 11.88}, {'connected_gene': 'MPV17L2', 'score': 11.53}, {'connected_gene': 'GTPBP3', 'score': 10.98}, {'connected_gene': 'RPL18A', 'score': 10.63}, {'connected_gene': 'KXD1', 'score': 10.6}, {'connected_gene': 'SLC27A1', 'score': 4.54}]
chr19	GH19I018332	18332044	18335684	0.57	[{'connected_gene': 'RN7SL513P', 'score': 550.77}, {'connected_gene': 'PGPEP1', 'score': 16.57}, {'connected_gene': 'LRRC25', 'score': 13.2}, {'connected_gene': 'MPV17L2', 'score': 11.19}, {'connected_gene': 'LSM4', 'score': 8.42}]
chr19	GH19I018168	18168220	18175625	2.06	[{'connected_gene': 'IFI30', 'score': 565.41}, {'connected_gene': 'MPV17L2', 'score': 19.61}, {'connected_gene': 'LRRC25', 'score': 15.64}, {'connected_gene': 'ENSG00000268938', 'score': 14.47}, {'connected_gene': 'MEF2B', 'score': 13.41}, {'connected_gene': 'MVB12A', 'score': 12.53}, {'connected_gene': 'ENSG00000268030', 'score': 12.38}, {'connected_gene': 'PGLS', 'score': 11.89}, {'connected_gene': 'UPF1', 'score': 10.74}, {'connected_gene': 'ENSG00000269191', 'score': 10.63}, {'connected_gene': 'COLGALT1', 'score': 10.62}, {'connected_gene': 'KXD1', 'score': 10.59}, {'connected_gene': 'SUGP2', 'score': 9.94}, {'connected_gene': 'PDE4C', 'score': 8.69}, {'connected_gene': 'KLHL26', 'score': 5.03}, {'connected_gene': 'ARRDC2', 'score': 4.02}, {'connected_gene': 'IL12RB1', 'score': 2.3}, {'connected_gene': 'PIK3R2', 'score': 0.37}, {'connected_gene': 'PIR53058', 'score': 0.37}, {'connected_gene': 'ENSG00000268173', 'score': 0.37}]
chr19	GH19I018176	18176391	18176540	0.51	[{'connected_gene': 'IFI30', 'score': 0.77}, {'connected_gene': 'MPV17L2', 'score': 0.37}, {'connected_gene': 'ENSG00000268173', 'score': 0.34}]
chr19	GH19I018177	18176931	18177080	0.63	[{'connected_gene': 'IFI30', 'score': 0.77}, {'connected_gene': 'MPV17L2', 'score': 0.37}, {'connected_gene': 'ENSG00000268173', 'score': 0.34}]
chr19	GH19I018180	18177771	18177920	0.4	[{'connected_gene': 'IFI30', 'score': 0.77}, {'connected_gene': 'MPV17L2', 'score': 0.37}, {'connected_gene': 'ENSG00000268173', 'score': 0.34}]