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
ENST00000396421	[[53970999, 53971043], [53987003, 53987091], [53989885, 53990012], [54006909, 54006950]]	[[53987076, 53987091], [53989885, 53990012], [54006909, 54006950]]
ENST00000468450	[[53970988, 53971043], [53987003, 53987091], [53993628, 53994020]]	[[53993645, 53994020]]
ENST00000396403	[[53970988, 53971043], [53987003, 53987091], [53989885, 53990012], [53993628, 53999509]]	[[53987076, 53987091], [53989885, 53990012], [53993628, 53995340]]
ENST00000490956	[[53970996, 53971043], [53987003, 53987091], [53989885, 53990012], [53991461, 53991554], [53993628, 53993832]]	[[53987076, 53987091], [53989885, 53990012], [53991461, 53991554], [53993628, 53993832]]
NM_001004301	[[53970988, 53971043], [53987003, 53987091], [53989885, 53990012], [53993628, 53997546]]	[[53987076, 53987091], [53989885, 53990012], [53993628, 53995340]]

Promoter

Chrom	Start	End	Description
chr19	53970970	53971021	CAGE_peak_1_at_ZNF813_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I053864	53864030	53873798	2.58	[{'connected_gene': 'MYADM', 'score': 565.22}, {'connected_gene': 'LOC105372457', 'score': 550.77}, {'connected_gene': 'ENSG00000269001', 'score': 23.24}, {'connected_gene': 'ZNF845', 'score': 21.85}, {'connected_gene': 'ZNF765', 'score': 19.63}, {'connected_gene': 'ZNF816', 'score': 17.82}, {'connected_gene': 'LENG8', 'score': 16.99}, {'connected_gene': 'ENSG00000235681', 'score': 16.64}, {'connected_gene': 'ZNF813', 'score': 16.37}, {'connected_gene': 'TPM3P6', 'score': 16.28}, {'connected_gene': 'ZNF160', 'score': 15.96}, {'connected_gene': 'LENG8-AS1', 'score': 15.9}, {'connected_gene': 'ZNF525', 'score': 15.07}, {'connected_gene': 'ZNF761', 'score': 14.63}, {'connected_gene': 'CNOT3', 'score': 14.15}, {'connected_gene': 'ZNF665', 'score': 13.75}, {'connected_gene': 'TPM3P9', 'score': 11.39}, {'connected_gene': 'CDC42EP5', 'score': 10.69}, {'connected_gene': 'PRPF31', 'score': 10.35}, {'connected_gene': 'LENG1', 'score': 10.14}, {'connected_gene': 'ZNF888', 'score': 9.99}, {'connected_gene': 'PRKCG', 'score': 8.58}, {'connected_gene': 'NLRP12', 'score': 3.05}, {'connected_gene': 'MBOAT7', 'score': 2.63}, {'connected_gene': 'VSTM1', 'score': 2.52}, {'connected_gene': 'LILRA5', 'score': 2.13}, {'connected_gene': 'OSCAR', 'score': 2.05}, {'connected_gene': 'TFPT', 'score': 1.7}, {'connected_gene': 'LILRA6', 'score': 1.56}, {'connected_gene': 'LILRB2', 'score': 1.53}, {'connected_gene': 'LILRB3', 'score': 1.21}, {'connected_gene': 'ENSG00000232324', 'score': 0.77}]
chr19	GH19I053780	53780068	53783799	0.95	[{'connected_gene': 'VN1R103P', 'score': 5.42}, {'connected_gene': 'ZNF765', 'score': 1.42}, {'connected_gene': 'ZNF761', 'score': 1.4}, {'connected_gene': 'ZNF813', 'score': 1.25}, {'connected_gene': 'GC19P053953', 'score': 0.44}, {'connected_gene': 'GC19P053998', 'score': 0.44}]
chr19	GH19I053479	53479283	53479342	0.5	[{'connected_gene': 'TPM3P6', 'score': 550.77}, {'connected_gene': 'GC19P053480', 'score': 550.77}, {'connected_gene': 'ZNF813', 'score': 550.39}]
chr19	GH19I054199	54199643	54211777	2.67	[{'connected_gene': 'RPS9', 'score': 576.98}, {'connected_gene': 'PRPF31', 'score': 83.39}, {'connected_gene': 'LENG8', 'score': 76.91}, {'connected_gene': 'LENG8-AS1', 'score': 70.73}, {'connected_gene': 'CNOT3', 'score': 67.81}, {'connected_gene': 'ZNF525', 'score': 63.2}, {'connected_gene': 'ZNF845', 'score': 52.51}, {'connected_gene': 'ENSG00000235681', 'score': 52.44}, {'connected_gene': 'LILRB5', 'score': 41.54}, {'connected_gene': 'ZNF765', 'score': 41.36}, {'connected_gene': 'ZNF761', 'score': 40.82}, {'connected_gene': 'TPM3P6', 'score': 32.66}, {'connected_gene': 'LILRB3', 'score': 22.38}, {'connected_gene': 'LILRA6', 'score': 22.37}, {'connected_gene': 'TPM3P9', 'score': 21.81}, {'connected_gene': 'ZNF677', 'score': 21.27}, {'connected_gene': 'LENG1', 'score': 21.09}, {'connected_gene': 'LILRA2', 'score': 19.95}, {'connected_gene': 'ENSG00000267838', 'score': 18.98}, {'connected_gene': 'MYADM', 'score': 16.9}, {'connected_gene': 'LILRA4', 'score': 15.14}, {'connected_gene': 'VSTM1', 'score': 13.45}, {'connected_gene': 'LILRA5', 'score': 12.73}, {'connected_gene': 'ENSG00000249189', 'score': 12.34}, {'connected_gene': 'TMC4', 'score': 12.22}, {'connected_gene': 'TSEN34', 'score': 12.14}, {'connected_gene': 'ZNF813', 'score': 10.04}, {'connected_gene': 'NLRP12', 'score': 9.94}, {'connected_gene': 'LOC105372457', 'score': 9.83}, {'connected_gene': 'PPP1R12C', 'score': 9.65}, {'connected_gene': 'LILRA1', 'score': 9.52}, {'connected_gene': 'MBOAT7', 'score': 9.27}, {'connected_gene': 'LILRP1', 'score': 8.68}, {'connected_gene': 'LILRB2', 'score': 8.22}, {'connected_gene': 'OSCAR', 'score': 8.08}, {'connected_gene': 'LILRB1', 'score': 6.16}, {'connected_gene': 'LAIR1', 'score': 3.17}, {'connected_gene': 'LILRB4', 'score': 2.67}, {'connected_gene': 'TARM1', 'score': 1.32}, {'connected_gene': 'ENSG00000224579', 'score': 0.77}, {'connected_gene': 'ENSG00000223660', 'score': 0.44}]
chr19	GH19I053664	53664845	53665076	0.53	[{'connected_gene': 'MIR512-1', 'score': 550.77}, {'connected_gene': 'GC19P053922', 'score': 550.77}, {'connected_gene': 'ENSG00000269873', 'score': 5.29}, {'connected_gene': 'DPRX', 'score': 3.59}, {'connected_gene': 'ZNF813', 'score': 2.13}, {'connected_gene': 'ZNF765', 'score': 1.77}, {'connected_gene': 'ZNF761', 'score': 1.65}, {'connected_gene': 'LOC100288093', 'score': 0.44}]
chr19	GH19I053544	53544246	53547047	1.26	[{'connected_gene': 'ZNF331', 'score': 9.2}, {'connected_gene': 'NLRP12', 'score': 3.39}, {'connected_gene': 'ZNF160', 'score': 2.88}, {'connected_gene': 'ZNF845', 'score': 2.42}, {'connected_gene': 'ZNF813', 'score': 2.11}, {'connected_gene': 'ZNF761', 'score': 1.54}, {'connected_gene': 'ENSG00000274892', 'score': 0.29}, {'connected_gene': 'DPRX', 'score': 0.22}]
chr19	GH19I053784	53784370	53786064	0.94	[{'connected_gene': 'ZNF331', 'score': 2.66}, {'connected_gene': 'ZNF813', 'score': 2.36}, {'connected_gene': 'DPRX', 'score': 1.74}, {'connected_gene': 'ZNF765', 'score': 1.28}, {'connected_gene': 'GC19P053953', 'score': 0.77}, {'connected_gene': 'GC19P053998', 'score': 0.44}]
chr19	GH19I053469	53469303	53469593	0.31	[{'connected_gene': 'ZNF813', 'score': 550.77}, {'connected_gene': 'TPM3P6', 'score': 0.44}]
chr19	GH19I053466	53466980	53468801	1.92	[{'connected_gene': 'ZNF813', 'score': 556.88}, {'connected_gene': 'CNOT3', 'score': 38.59}, {'connected_gene': 'ZNF701', 'score': 35.57}, {'connected_gene': 'ZNF600', 'score': 33.16}, {'connected_gene': 'LENG8', 'score': 31.87}, {'connected_gene': 'ZNF845', 'score': 30.63}, {'connected_gene': 'ZNF808', 'score': 29.21}, {'connected_gene': 'ENSG00000269001', 'score': 27.63}, {'connected_gene': 'ENSG00000268970', 'score': 26.33}, {'connected_gene': 'ZNF160', 'score': 25.35}, {'connected_gene': 'LENG8-AS1', 'score': 25.14}, {'connected_gene': 'ZNF137P', 'score': 24.86}, {'connected_gene': 'ZNF816', 'score': 24.45}, {'connected_gene': 'ENSG00000235681', 'score': 23.58}, {'connected_gene': 'PRPF31', 'score': 23.42}, {'connected_gene': 'TPM3P6', 'score': 23.26}, {'connected_gene': 'ZNF525', 'score': 23.16}, {'connected_gene': 'ZNF468', 'score': 22.84}, {'connected_gene': 'ENSG00000269825', 'score': 20.81}, {'connected_gene': 'ZNF765', 'score': 12.52}, {'connected_gene': 'ZNF761', 'score': 12.37}, {'connected_gene': 'ZNF665', 'score': 11.07}, {'connected_gene': 'TPM3P9', 'score': 10.73}, {'connected_gene': 'ZNF28', 'score': 10.54}, {'connected_gene': 'LOC105372457', 'score': 9.81}, {'connected_gene': 'ZNF347', 'score': 9.71}]
chr19	GH19I053467	53466867	53466956	0.31	[{'connected_gene': 'ZNF813', 'score': 550.77}, {'connected_gene': 'VN1R102P', 'score': 0.77}]
chr19	GH19I053463	53463001	53463898	0.51	[{'connected_gene': 'VN1R102P', 'score': 550.77}, {'connected_gene': 'ZNF761', 'score': 6.52}, {'connected_gene': 'ZNF813', 'score': 0.77}]
chr19	GH19I053930	53930071	53930166	0.23	[{'connected_gene': 'MIR935', 'score': 11.58}, {'connected_gene': 'CACNG6', 'score': 11.55}, {'connected_gene': 'LOC105372457', 'score': 11.39}, {'connected_gene': 'ENSG00000232220', 'score': 10.99}, {'connected_gene': 'PRKCG', 'score': 10.99}, {'connected_gene': 'RNU6-1041P', 'score': 10.28}, {'connected_gene': 'MIR516A2', 'score': 10.28}, {'connected_gene': 'MIR519A1', 'score': 10.28}, {'connected_gene': 'MIR527', 'score': 10.28}, {'connected_gene': 'MIR1283-2', 'score': 10.28}, {'connected_gene': 'MIR516A1', 'score': 10.28}, {'connected_gene': 'RNU6-751P', 'score': 10.27}, {'connected_gene': 'MIR521-1', 'score': 10.27}, {'connected_gene': 'MIR517C', 'score': 10.27}, {'connected_gene': 'MIR520H', 'score': 10.27}, {'connected_gene': 'RNU6-982P', 'score': 10.27}, {'connected_gene': 'MIR518A2', 'score': 10.27}, {'connected_gene': 'MIR516B1', 'score': 10.27}, {'connected_gene': 'RNU6-980P', 'score': 10.27}, {'connected_gene': 'MIR518A1', 'score': 10.27}, {'connected_gene': 'MIR518E', 'score': 10.27}, {'connected_gene': 'MIR516B2', 'score': 10.27}, {'connected_gene': 'MIR526A2', 'score': 10.27}, {'connected_gene': 'MIR520G', 'score': 10.26}, {'connected_gene': 'MIR517B', 'score': 10.26}, {'connected_gene': 'MIR519D', 'score': 10.26}, {'connected_gene': 'MIR517A', 'score': 10.26}, {'connected_gene': 'MIR521-2', 'score': 10.26}, {'connected_gene': 'RNU6-803P', 'score': 10.26}, {'connected_gene': 'MIR520D', 'score': 10.26}, {'connected_gene': 'MIR518B', 'score': 10.26}, {'connected_gene': 'MIR520B', 'score': 10.26}, {'connected_gene': 'MIR526A1', 'score': 10.26}, {'connected_gene': 'MIR520C', 'score': 10.26}, {'connected_gene': 'MIR519B', 'score': 10.26}, {'connected_gene': 'MIR525', 'score': 10.26}, {'connected_gene': 'MIR518F', 'score': 10.26}, {'connected_gene': 'MIR520A', 'score': 10.25}, {'connected_gene': 'MIR526B', 'score': 10.25}, {'connected_gene': 'CACNG7', 'score': 2.07}, {'connected_gene': 'DPRX', 'score': 1.63}, {'connected_gene': 'ZNF813', 'score': 1.27}, {'connected_gene': 'TARM1', 'score': 1.24}, {'connected_gene': 'PIR36356', 'score': 0.39}, {'connected_gene': 'CACNG8', 'score': 0.29}]
chr19	GH19I053893	53893107	53893256	0.68	[{'connected_gene': 'ENSG00000269001', 'score': 23.23}, {'connected_gene': 'ZNF845', 'score': 21.85}, {'connected_gene': 'ZNF765', 'score': 17.86}, {'connected_gene': 'ZNF816', 'score': 17.82}, {'connected_gene': 'LENG8', 'score': 16.99}, {'connected_gene': 'ENSG00000235681', 'score': 16.64}, {'connected_gene': 'ZNF813', 'score': 16.33}, {'connected_gene': 'TPM3P6', 'score': 16.27}, {'connected_gene': 'ZNF160', 'score': 15.96}, {'connected_gene': 'LENG8-AS1', 'score': 15.9}, {'connected_gene': 'ZNF525', 'score': 15.07}, {'connected_gene': 'CNOT3', 'score': 14.62}, {'connected_gene': 'ZNF665', 'score': 13.75}, {'connected_gene': 'ZNF761', 'score': 13.17}, {'connected_gene': 'LOC105372457', 'score': 12.46}, {'connected_gene': 'MYADM', 'score': 12.44}, {'connected_gene': 'ENSG00000232324', 'score': 12.44}, {'connected_gene': 'TPM3P9', 'score': 11.39}, {'connected_gene': 'CDC42EP5', 'score': 10.69}, {'connected_gene': 'PRPF31', 'score': 10.36}, {'connected_gene': 'LENG1', 'score': 10.14}, {'connected_gene': 'ZNF888', 'score': 9.99}, {'connected_gene': 'PRKCG', 'score': 0.39}, {'connected_gene': 'CACNG7', 'score': 0.37}]
chr19	GH19I053787	53787933	53787955	0.63	[{'connected_gene': 'GC19P053928', 'score': 550.77}, {'connected_gene': 'GC19P053940', 'score': 550.77}, {'connected_gene': 'GC19P053953', 'score': 550.77}, {'connected_gene': 'MIR372', 'score': 550.77}, {'connected_gene': 'ENSG00000269564', 'score': 550.77}, {'connected_gene': 'GC19P053959', 'score': 550.77}, {'connected_gene': 'ENSG00000269877', 'score': 550.77}, {'connected_gene': 'GC19P053967', 'score': 550.77}, {'connected_gene': 'MIR373', 'score': 550.77}, {'connected_gene': 'MIR371A', 'score': 550.77}, {'connected_gene': 'GC19P053932', 'score': 550.77}, {'connected_gene': 'MIR371B', 'score': 550.77}, {'connected_gene': 'BIRC8', 'score': 2.85}, {'connected_gene': 'ZNF765', 'score': 1.65}, {'connected_gene': 'ZNF813', 'score': 1.54}, {'connected_gene': 'ZNF761', 'score': 1.54}, {'connected_gene': 'ZNF845', 'score': 1.19}]