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
ENST00000323060	[[46030684, 46032714], [46087880, 46088100]]	[[46032313, 46032714], [46087880, 46088022]]
ENST00000263275	[[46049538, 46057169], [46087880, 46088077]]	[[46056771, 46057169], [46087880, 46088022]]
ENST00000544371	[[46056141, 46057169], [46105352, 46105470]]	[[46056771, 46057152]]
NM_001017989	[[46031024, 46032714], [46087880, 46088122]]	[[46032313, 46032714], [46087880, 46088022]]
NM_025136	[[46049538, 46057169], [46087880, 46088122]]	[[46056771, 46057169], [46087880, 46088022]]

Promoter

Chrom	Start	End	Description
chr19	46088027	46088067	CAGE_peak_1_at_OPA3_5end
chr19	46088068	46088088	CAGE_peak_3_at_OPA3_5end
chr19	46105411	46105481	CAGE_peak_1_at_GPR4_5end,CAGE_peak_2_at_OPA3_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I045553	45553213	45554238	0.86	[{'connected_gene': 'OPA3', 'score': 13.42}, {'connected_gene': 'GC19P045560', 'score': 0.44}, {'connected_gene': 'VASP', 'score': 0.25}]
chr19	GH19I045543	45543590	45544569	0.72	[{'connected_gene': 'OPA3', 'score': 5.07}, {'connected_gene': 'GC19P045560', 'score': 0.37}, {'connected_gene': 'VASP', 'score': 0.28}]
chr19	GH19I045583	45583423	45585895	2.28	[{'connected_gene': 'OPA3', 'score': 556.42}, {'connected_gene': 'CCDC61', 'score': 13.39}, {'connected_gene': 'SYMPK', 'score': 10.36}, {'connected_gene': 'IRF2BP1', 'score': 10.1}, {'connected_gene': 'EXOC3L2', 'score': 4.99}, {'connected_gene': 'GPR4', 'score': 0.37}, {'connected_gene': 'GC19P045560', 'score': 0.34}]
chr19	GH19I045562	45562032	45564733	1.04	[{'connected_gene': 'OPA3', 'score': 13.49}, {'connected_gene': 'GC19P045560', 'score': 0.77}, {'connected_gene': 'GPR4', 'score': 0.28}]
chr19	GH19I045526	45526109	45526912	0.94	[{'connected_gene': 'VASP', 'score': 0.37}, {'connected_gene': 'GC19P045560', 'score': 0.29}, {'connected_gene': 'OPA3', 'score': 0.18}]
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	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	GH19I045880	45880564	45884092	1.56	[{'connected_gene': 'CCDC61', 'score': 21.66}, {'connected_gene': 'FBXO46', 'score': 17.73}, {'connected_gene': 'CLASRP', 'score': 15.83}, {'connected_gene': 'ENSG00000268810', 'score': 15.45}, {'connected_gene': 'ENSG00000269148', 'score': 13.57}, {'connected_gene': 'SYMPK', 'score': 12.57}, {'connected_gene': 'IRF2BP1', 'score': 6.58}, {'connected_gene': 'FOXA3', 'score': 1.96}, {'connected_gene': 'OPA3', 'score': 1.8}, {'connected_gene': 'GIPR', 'score': 1.24}, {'connected_gene': 'GC19M045838', 'score': 0.44}]
chr19	GH19I045597	45597555	45600400	1.09	[{'connected_gene': 'CCDC61', 'score': 11.3}, {'connected_gene': 'CLASRP', 'score': 11.01}, {'connected_gene': 'ENSG00000268810', 'score': 9.72}, {'connected_gene': 'APOC1P1', 'score': 4.61}, {'connected_gene': 'GPR4', 'score': 0.77}, {'connected_gene': 'OPA3', 'score': 0.77}, {'connected_gene': 'GC19P045560', 'score': 0.28}]
chr19	GH19I045690	45690854	45694090	2.08	[{'connected_gene': 'QPCTL', 'score': 571.56}, {'connected_gene': 'SNRPD2', 'score': 559.65}, {'connected_gene': 'CCDC61', 'score': 49.39}, {'connected_gene': 'ENSG00000268810', 'score': 41.55}, {'connected_gene': 'SYMPK', 'score': 39.65}, {'connected_gene': 'FBXO46', 'score': 25.45}, {'connected_gene': 'CLASRP', 'score': 24.19}, {'connected_gene': 'ENSG00000269148', 'score': 22.26}, {'connected_gene': 'ENSG00000267114', 'score': 21.1}, {'connected_gene': 'IRF2BP1', 'score': 11.62}, {'connected_gene': 'BHMG1', 'score': 11.07}, {'connected_gene': 'EML2', 'score': 11.01}, {'connected_gene': 'GPR4', 'score': 10.99}, {'connected_gene': 'OPA3', 'score': 10.99}, {'connected_gene': 'MIR330', 'score': 10.88}, {'connected_gene': 'DMWD', 'score': 10.45}, {'connected_gene': 'DM1-AS', 'score': 10.11}, {'connected_gene': 'FOXA3', 'score': 10.07}]
chr19	GH19I044903	44903357	44907334	2.23	[{'connected_gene': 'APOE', 'score': 560.16}, {'connected_gene': 'ZNF180', 'score': 43.5}, {'connected_gene': 'ZNF224', 'score': 37.41}, {'connected_gene': 'CLASRP', 'score': 34.57}, {'connected_gene': 'ZNF45', 'score': 33.34}, {'connected_gene': 'ZNF230', 'score': 32.18}, {'connected_gene': 'ZNF284', 'score': 26.1}, {'connected_gene': 'ZNF234', 'score': 24.29}, {'connected_gene': 'FBXO46', 'score': 23.48}, {'connected_gene': 'ENSG00000269148', 'score': 21.0}, {'connected_gene': 'ZNF225', 'score': 12.72}, {'connected_gene': 'NECTIN2', 'score': 5.81}, {'connected_gene': 'OPA3', 'score': 4.49}, {'connected_gene': 'GC19P044899', 'score': 0.44}, {'connected_gene': 'GC19M044904', 'score': 0.44}, {'connected_gene': 'TOMM40', 'score': 0.39}]
chr19	GH19I045602	45601043	45601443	0.65	[{'connected_gene': 'GPR4', 'score': 569.31}, {'connected_gene': 'OPA3', 'score': 550.77}, {'connected_gene': 'NOVA2', 'score': 4.49}, {'connected_gene': 'GC19P045560', 'score': 0.26}]
chr19	GH19I045601	45601801	45602522	1.29	[{'connected_gene': 'GPR4', 'score': 550.77}, {'connected_gene': 'OPA3', 'score': 550.77}, {'connected_gene': 'EML2', 'score': 4.94}, {'connected_gene': 'GC19P045560', 'score': 0.26}]
chr19	GH19I045580	45580866	45581708	0.52	[{'connected_gene': 'GPR4', 'score': 0.34}, {'connected_gene': 'OPA3', 'score': 0.34}, {'connected_gene': 'GC19P045560', 'score': 0.34}]
chr19	GH19I045592	45591517	45593082	0.57	[{'connected_gene': 'GPR4', 'score': 0.44}, {'connected_gene': 'OPA3', 'score': 0.44}, {'connected_gene': 'GC19P045560', 'score': 0.29}]
chr19	GH19I045591	45591003	45591212	0.96	[{'connected_gene': 'GPR4', 'score': 0.39}, {'connected_gene': 'OPA3', 'score': 0.39}, {'connected_gene': 'GC19P045560', 'score': 0.29}]
chr19	GH19I045587	45587314	45588446	0.8	[{'connected_gene': 'GPR4', 'score': 0.39}, {'connected_gene': 'OPA3', 'score': 0.39}, {'connected_gene': 'GC19P045560', 'score': 0.31}]
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	GH19I045547	45547930	45548937	0.64	[{'connected_gene': 'CLASRP', 'score': 17.83}, {'connected_gene': 'CCDC61', 'score': 15.86}, {'connected_gene': 'ENSG00000269148', 'score': 14.8}, {'connected_gene': 'ENSG00000268810', 'score': 13.43}, {'connected_gene': 'FBXO46', 'score': 10.14}, {'connected_gene': 'ERCC1', 'score': 4.85}, {'connected_gene': 'GC19P045560', 'score': 0.39}, {'connected_gene': 'VASP', 'score': 0.26}, {'connected_gene': 'OPA3', 'score': 0.23}]
chr19	GH19I045559	45559968	45561153	0.31	[{'connected_gene': 'GC19P045560', 'score': 550.77}, {'connected_gene': 'OPA3', 'score': 0.26}, {'connected_gene': 'VASP', 'score': 0.23}]
chr19	GH19I045606	45606863	45607952	1.37	[{'connected_gene': 'PIR54112', 'score': 0.77}, {'connected_gene': 'OPA3', 'score': 0.44}, {'connected_gene': 'EML2', 'score': 0.28}]
chr19	GH19I045575	45575376	45579146	1.36	[{'connected_gene': 'ENSG00000268810', 'score': 13.95}, {'connected_gene': 'GPR4', 'score': 12.49}, {'connected_gene': 'OPA3', 'score': 12.49}, {'connected_gene': 'DM1-AS', 'score': 12.32}, {'connected_gene': 'CCDC61', 'score': 11.86}, {'connected_gene': 'MIR330', 'score': 11.81}, {'connected_gene': 'EML2', 'score': 11.81}, {'connected_gene': 'CLASRP', 'score': 11.27}, {'connected_gene': 'ENSG00000259605', 'score': 10.1}, {'connected_gene': 'GC19P045560', 'score': 0.37}]
chr19	GH19I045568	45567821	45567932	0.59	[{'connected_gene': 'GC19P045560', 'score': 0.44}, {'connected_gene': 'GPR4', 'score': 0.29}, {'connected_gene': 'OPA3', 'score': 0.29}]
chr19	GH19I045558	45558400	45558632	1.05	[{'connected_gene': 'ENSG00000268810', 'score': 10.99}, {'connected_gene': 'ERCC1', 'score': 10.04}, {'connected_gene': 'GC19P045560', 'score': 0.77}, {'connected_gene': 'OPA3', 'score': 0.26}, {'connected_gene': 'VASP', 'score': 0.23}]
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	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}]