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
ENST00000360538	[[32540541, 32544324], [32550771, 32550966], [32552431, 32552551]]	[[32541384, 32544324], [32550771, 32550966], [32552431, 32552434]]
ENST00000379858	[[32540823, 32544324], [32552431, 32552551]]	[[32541384, 32544324], [32552431, 32552434]]
NM_005802	[[32540541, 32544324], [32550771, 32550966], [32552431, 32552626]]	[[32541384, 32544324], [32550771, 32550966], [32552431, 32552434]]
NM_001195622	[[32540541, 32544324], [32552431, 32552626]]	[[32541384, 32544324], [32552431, 32552434]]

Promoter

Chrom	Start	End	Description
chr9	32550839	32550962	CAGE_peak_3_at_TOPORS_5end
chr9	32550965	32551031	CAGE_peak_4_at_TOPORS_5end
chr9	32551047	32551066	CAGE_peak_5_at_TOPORS_5end
chr9	32552552	32552576	CAGE_peak_2_at_TOPORS_5end
chr9	32552577	32552627	CAGE_peak_1_at_TOPORS_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr9	GH09I033472	33472114	33475000	2.26	[{'connected_gene': 'NOL6', 'score': 662.79}, {'connected_gene': 'NFX1', 'score': 135.98}, {'connected_gene': 'TOPORS', 'score': 135.28}, {'connected_gene': 'ASS1P12', 'score': 111.06}, {'connected_gene': 'SMU1', 'score': 109.34}, {'connected_gene': 'TCEA1P4', 'score': 90.52}, {'connected_gene': 'ENSG00000228352', 'score': 67.23}, {'connected_gene': 'DFFBP1', 'score': 63.58}, {'connected_gene': 'ENSG00000223440', 'score': 55.62}, {'connected_gene': 'UBAP2', 'score': 47.15}, {'connected_gene': 'SUGT1P1', 'score': 25.61}, {'connected_gene': 'LAGE3P1', 'score': 20.95}, {'connected_gene': 'APTX', 'score': 18.57}, {'connected_gene': 'DDX58', 'score': 11.89}, {'connected_gene': 'ANKRD18B', 'score': 10.54}, {'connected_gene': 'ENSG00000260947', 'score': 10.38}, {'connected_gene': 'B4GALT1', 'score': 10.06}, {'connected_gene': 'CHMP5', 'score': 9.96}, {'connected_gene': 'AQP7', 'score': 5.31}, {'connected_gene': 'MIR6851', 'score': 0.44}]
chr9	GH09I033033	33033163	33033388	0.53	[{'connected_gene': 'SMU1', 'score': 12.65}, {'connected_gene': 'LAGE3P1', 'score': 10.68}, {'connected_gene': 'DNAJA1', 'score': 2.23}, {'connected_gene': 'NFX1', 'score': 1.45}, {'connected_gene': 'TOPORS', 'score': 1.34}, {'connected_gene': 'PIR42660', 'score': 0.44}]
chr9	GH09I033075	33075396	33077550	2.04	[{'connected_gene': 'SMU1', 'score': 563.0}, {'connected_gene': 'B4GALT1', 'score': 21.24}, {'connected_gene': 'NOL6', 'score': 19.08}, {'connected_gene': 'NFX1', 'score': 14.52}, {'connected_gene': 'ANXA2P2', 'score': 14.25}, {'connected_gene': 'BAG1', 'score': 11.14}, {'connected_gene': 'CHMP5', 'score': 11.14}, {'connected_gene': 'TOPORS', 'score': 11.09}, {'connected_gene': 'B4GALT1-AS1', 'score': 11.08}, {'connected_gene': 'RNU4ATAC15P', 'score': 10.15}, {'connected_gene': 'ASS1P12', 'score': 10.0}, {'connected_gene': 'APTX', 'score': 8.84}, {'connected_gene': 'PIR52670', 'score': 0.29}]
chr9	GH09I033023	33023378	33027580	2.04	[{'connected_gene': 'APTX', 'score': 575.32}, {'connected_gene': 'DNAJA1', 'score': 550.77}, {'connected_gene': 'TOPORS', 'score': 24.78}, {'connected_gene': 'ENSG00000223440', 'score': 19.15}, {'connected_gene': 'ASS1P12', 'score': 18.3}, {'connected_gene': 'SMU1', 'score': 18.12}, {'connected_gene': 'DDX58', 'score': 15.79}, {'connected_gene': 'DFFBP1', 'score': 12.24}, {'connected_gene': 'NOL6', 'score': 11.6}, {'connected_gene': 'LAGE3P1', 'score': 10.71}, {'connected_gene': 'B4GALT1', 'score': 5.59}, {'connected_gene': 'PIR42660', 'score': 0.39}]
chr9	GH09I032390	32390252	32392425	0.2	[{'connected_gene': 'ACO1', 'score': 11.69}, {'connected_gene': 'DDX58', 'score': 5.1}, {'connected_gene': 'TOPORS', 'score': 4.77}, {'connected_gene': 'LOC105376014', 'score': 0.21}]
chr9	GH09I032393	32393509	32396936	1.09	[{'connected_gene': 'ACO1', 'score': 9.53}, {'connected_gene': 'DDX58', 'score': 6.84}, {'connected_gene': 'TOPORS', 'score': 4.77}, {'connected_gene': 'LOC105376014', 'score': 0.22}]
chr9	GH09I032388	32388496	32390060	0.2	[{'connected_gene': 'ACO1', 'score': 9.63}, {'connected_gene': 'DDX58', 'score': 5.08}, {'connected_gene': 'TOPORS', 'score': 4.69}, {'connected_gene': 'LOC105376014', 'score': 0.2}]
chr9	GH09I032382	32382259	32385601	2.15	[{'connected_gene': 'ACO1', 'score': 560.0}, {'connected_gene': 'TOPORS', 'score': 21.01}, {'connected_gene': 'ASS1P12', 'score': 14.35}, {'connected_gene': 'SMU1', 'score': 14.13}, {'connected_gene': 'DFFBP1', 'score': 13.82}, {'connected_gene': 'NDUFB6', 'score': 12.61}, {'connected_gene': 'NFX1', 'score': 11.39}, {'connected_gene': 'TCEA1P4', 'score': 10.28}, {'connected_gene': 'ENSG00000223440', 'score': 10.16}, {'connected_gene': 'SLC25A5P8', 'score': 0.25}]
chr9	GH09I033226	33226508	33237474	1.35	[{'connected_gene': 'NFX1', 'score': 35.1}, {'connected_gene': 'SMU1', 'score': 23.9}, {'connected_gene': 'BAG1', 'score': 17.39}, {'connected_gene': 'ASS1P12', 'score': 15.67}, {'connected_gene': 'DFFBP1', 'score': 15.17}, {'connected_gene': 'TCEA1P4', 'score': 14.26}, {'connected_gene': 'TOPORS', 'score': 14.15}, {'connected_gene': 'ENSG00000228352', 'score': 13.06}, {'connected_gene': 'CHMP5', 'score': 12.54}, {'connected_gene': 'NOL6', 'score': 12.25}, {'connected_gene': 'B4GALT1', 'score': 12.03}, {'connected_gene': 'B4GALT1-AS1', 'score': 12.03}, {'connected_gene': 'RNU4ATAC15P', 'score': 11.84}, {'connected_gene': 'SPINK4', 'score': 0.39}, {'connected_gene': 'GC09P033251', 'score': 0.37}, {'connected_gene': 'GC09M033166', 'score': 0.2}, {'connected_gene': 'GC09M033168', 'score': 0.2}, {'connected_gene': 'GC09M033167', 'score': 0.2}]
chr9	GH09I033286	33286628	33299625	2.53	[{'connected_gene': 'NFX1', 'score': 583.83}, {'connected_gene': 'PIR32325', 'score': 550.77}, {'connected_gene': 'B4GALT1', 'score': 19.34}, {'connected_gene': 'BAG1', 'score': 17.47}, {'connected_gene': 'ENSG00000228352', 'score': 16.36}, {'connected_gene': 'DFFBP1', 'score': 14.98}, {'connected_gene': 'ANXA2P2', 'score': 14.27}, {'connected_gene': 'SMU1', 'score': 13.53}, {'connected_gene': 'CHMP5', 'score': 12.03}, {'connected_gene': 'DDX58', 'score': 11.88}, {'connected_gene': 'AQP3', 'score': 11.17}, {'connected_gene': 'TOPORS', 'score': 10.76}, {'connected_gene': 'SPINK4', 'score': 9.93}, {'connected_gene': 'GC09M033166', 'score': 0.77}, {'connected_gene': 'GC09M033168', 'score': 0.77}, {'connected_gene': 'GC09M033167', 'score': 0.77}, {'connected_gene': 'LOC100862682', 'score': 0.77}]
chr9	GH09I032571	32571434	32574211	2.04	[{'connected_gene': 'NDUFB6', 'score': 560.54}, {'connected_gene': 'SMU1', 'score': 34.14}, {'connected_gene': 'DFFBP1', 'score': 23.49}, {'connected_gene': 'DDX58', 'score': 22.61}, {'connected_gene': 'TOPORS', 'score': 20.87}, {'connected_gene': 'B4GALT1', 'score': 10.78}, {'connected_gene': 'DNAJA1', 'score': 10.05}, {'connected_gene': 'APTX', 'score': 10.05}, {'connected_gene': 'ASS1P12', 'score': 9.83}]
chr9	GH09I033156	33156323	33169432	2.65	[{'connected_gene': 'B4GALT1', 'score': 577.57}, {'connected_gene': 'NFX1', 'score': 19.9}, {'connected_gene': 'NOL6', 'score': 19.1}, {'connected_gene': 'SMU1', 'score': 16.23}, {'connected_gene': 'ASS1P12', 'score': 15.7}, {'connected_gene': 'TOPORS', 'score': 15.58}, {'connected_gene': 'ENSG00000228352', 'score': 13.11}, {'connected_gene': 'DFFBP1', 'score': 12.51}, {'connected_gene': 'UBAP2', 'score': 11.24}, {'connected_gene': 'TCEA1P4', 'score': 10.95}, {'connected_gene': 'DNAJA1', 'score': 10.09}, {'connected_gene': 'ENSG00000223440', 'score': 10.01}, {'connected_gene': 'OSTCP8', 'score': 4.54}, {'connected_gene': 'CHMP5', 'score': 2.82}, {'connected_gene': 'APTX', 'score': 1.39}, {'connected_gene': 'B4GALT1-AS1', 'score': 0.77}, {'connected_gene': 'GC09M033166', 'score': 0.12}, {'connected_gene': 'GC09M033168', 'score': 0.12}, {'connected_gene': 'GC09M033167', 'score': 0.12}]
chr9	GH09I032443	32443272	32443463	0.24	[{'connected_gene': 'DDX58', 'score': 4.91}, {'connected_gene': 'TOPORS', 'score': 1.71}, {'connected_gene': 'LOC105376014', 'score': 0.39}, {'connected_gene': 'ACO1', 'score': 0.22}]
chr9	GH09I032558	32558601	32559399	0.63	[{'connected_gene': 'DDX58', 'score': 12.93}, {'connected_gene': 'TOPORS', 'score': 0.44}, {'connected_gene': 'SMIM27', 'score': 0.44}, {'connected_gene': 'DFFBP1', 'score': 0.44}, {'connected_gene': 'NDUFB6', 'score': 0.39}]
chr9	GH09I032560	32560660	32561316	0.31	[{'connected_gene': 'DDX58', 'score': 12.93}, {'connected_gene': 'TOPORS', 'score': 0.44}, {'connected_gene': 'SMIM27', 'score': 0.44}, {'connected_gene': 'DFFBP1', 'score': 0.44}, {'connected_gene': 'NDUFB6', 'score': 0.39}]
chr9	GH09I032404	32404503	32405307	0.66	[{'connected_gene': 'TOPORS', 'score': 16.08}, {'connected_gene': 'DDX58', 'score': 12.0}, {'connected_gene': 'SMIM27', 'score': 11.99}, {'connected_gene': 'ACO1', 'score': 9.73}, {'connected_gene': 'LOC105376014', 'score': 0.23}]
chr9	GH09I032549	32549865	32554977	2.28	[{'connected_gene': 'TOPORS', 'score': 563.4}, {'connected_gene': 'SMIM27', 'score': 550.77}, {'connected_gene': 'NFX1', 'score': 16.62}, {'connected_gene': 'TCEA1P4', 'score': 13.35}, {'connected_gene': 'NDUFB6', 'score': 12.37}, {'connected_gene': 'SMU1', 'score': 11.29}, {'connected_gene': 'ASS1P12', 'score': 10.63}, {'connected_gene': 'NOL6', 'score': 10.24}, {'connected_gene': 'DDX58', 'score': 4.81}]
chr9	GH09I032550	32549401	32549600	0.2	[{'connected_gene': 'GC09P032548', 'score': 550.77}, {'connected_gene': 'SMIM27', 'score': 550.77}, {'connected_gene': 'TOPORS', 'score': 0.77}]