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
ENST00000379725	[[33218362, 33218457], [33220949, 33221106], [33245109, 33245150], [33246613, 33246726], [33248423, 33248550]]	[[33220976, 33221106], [33245109, 33245150], [33246613, 33246726], [33248423, 33248469]]
ENST00000379723	[[33220976, 33221106], [33245109, 33245150], [33246613, 33246726], [33248423, 33248564]]	[[33220976, 33221106], [33245109, 33245150], [33246613, 33246726], [33248423, 33248469]]
ENST00000379721	[[33240161, 33240267], [33245109, 33245150], [33246613, 33246726], [33248423, 33248565]]	[[33240206, 33240267], [33245109, 33245150], [33246613, 33246726], [33248423, 33248469]]
NM_014471	[[33240161, 33240267], [33245109, 33245150], [33246613, 33246726], [33248423, 33248565]]	[[33240206, 33240267], [33245109, 33245150], [33246613, 33246726], [33248423, 33248469]]

Promoter

Chrom	Start	End	Description
chr9	33240157	33240173	CAGE_peak_1_at_SPINK4_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr9	GH09I033353	33353994	33355966	0.92	[{'connected_gene': 'BAG1', 'score': 15.8}, {'connected_gene': 'LOC105376020', 'score': 11.17}, {'connected_gene': 'AQP7', 'score': 11.17}, {'connected_gene': 'NFX1', 'score': 11.05}, {'connected_gene': 'CHMP5', 'score': 10.36}, {'connected_gene': 'SPINK4', 'score': 7.27}, {'connected_gene': 'ENSG00000200544', 'score': 0.77}, {'connected_gene': 'PIR41360', 'score': 0.26}]
chr9	GH09I033080	33080493	33083478	1.11	[{'connected_gene': 'APTX', 'score': 22.83}, {'connected_gene': 'B4GALT1-AS1', 'score': 12.36}, {'connected_gene': 'B4GALT1', 'score': 12.35}, {'connected_gene': 'RNU4ATAC15P', 'score': 12.29}, {'connected_gene': 'SPINK4', 'score': 11.53}, {'connected_gene': 'SMU1', 'score': 0.44}]
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	GH09I033211	33211360	33212636	1	[{'connected_gene': 'NFX1', 'score': 7.42}, {'connected_gene': 'SPINK4', 'score': 0.44}, {'connected_gene': 'GC09P033176', 'score': 0.28}, {'connected_gene': 'GC09M033166', 'score': 0.17}, {'connected_gene': 'GC09M033168', 'score': 0.17}, {'connected_gene': 'GC09M033167', 'score': 0.17}]
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	GH09I033373	33373439	33374476	0.31	[{'connected_gene': 'AQP7', 'score': 7.19}, {'connected_gene': 'SPINK4', 'score': 5.49}, {'connected_gene': 'ENSG00000200544', 'score': 0.34}, {'connected_gene': 'PIR41360', 'score': 0.34}]
chr9	GH09I033239	33239524	33240821	1.45	[{'connected_gene': 'SPINK4', 'score': 561.9}, {'connected_gene': 'BAG1', 'score': 12.59}, {'connected_gene': 'CHMP5', 'score': 12.59}, {'connected_gene': 'SMU1', 'score': 11.25}, {'connected_gene': 'B4GALT1-AS1', 'score': 11.05}, {'connected_gene': 'B4GALT1', 'score': 11.05}, {'connected_gene': 'RNU4ATAC15P', 'score': 10.69}, {'connected_gene': 'NFX1', 'score': 10.17}, {'connected_gene': 'GC09P033251', 'score': 0.39}, {'connected_gene': 'GC09M033166', 'score': 0.22}, {'connected_gene': 'GC09M033168', 'score': 0.22}, {'connected_gene': 'GC09M033167', 'score': 0.22}]
chr9	GH09I033302	33302976	33303822	0.31	[{'connected_gene': 'SPINK4', 'score': 9.87}, {'connected_gene': 'GC09M033166', 'score': 0.44}, {'connected_gene': 'NFX1', 'score': 0.39}, {'connected_gene': 'PIR45697', 'score': 0.26}, {'connected_gene': 'GC09P033345', 'score': 0.26}]
chr9	GH09I033064	33064972	33066200	0.8	[{'connected_gene': 'SPINK4', 'score': 11.17}, {'connected_gene': 'B4GALT1-AS1', 'score': 11.06}, {'connected_gene': 'B4GALT1', 'score': 11.06}, {'connected_gene': 'DNAJA1', 'score': 10.56}, {'connected_gene': 'APTX', 'score': 10.56}, {'connected_gene': 'BAG1', 'score': 10.52}, {'connected_gene': 'CHMP5', 'score': 10.52}, {'connected_gene': 'NFX1', 'score': 10.05}, {'connected_gene': 'SMU1', 'score': 8.75}, {'connected_gene': 'PIR52670', 'score': 0.34}]
chr9	GH09I033108	33108854	33110641	0.38	[{'connected_gene': 'B4GALT1', 'score': 23.98}, {'connected_gene': 'SMU1', 'score': 12.68}, {'connected_gene': 'B4GALT1-AS1', 'score': 11.78}, {'connected_gene': 'RNU4ATAC15P', 'score': 11.63}, {'connected_gene': 'BAG1', 'score': 10.91}, {'connected_gene': 'CHMP5', 'score': 10.91}, {'connected_gene': 'SPINK4', 'score': 10.78}]
chr9	GH09I033116	33116612	33118221	0.78	[{'connected_gene': 'B4GALT1', 'score': 20.87}, {'connected_gene': 'SPINK4', 'score': 11.91}, {'connected_gene': 'B4GALT1-AS1', 'score': 11.89}, {'connected_gene': 'RNU4ATAC15P', 'score': 11.42}, {'connected_gene': 'SMU1', 'score': 0.26}]
chr9	GH09I033184	33184310	33188371	1.14	[{'connected_gene': 'B4GALT1', 'score': 13.43}, {'connected_gene': 'GC09P033176', 'score': 0.39}, {'connected_gene': 'SPINK4', 'score': 0.29}, {'connected_gene': 'GC09M033166', 'score': 0.14}, {'connected_gene': 'GC09M033168', 'score': 0.14}, {'connected_gene': 'GC09M033167', 'score': 0.14}]
chr9	GH09I033180	33180382	33181853	0.83	[{'connected_gene': 'B4GALT1', 'score': 12.0}, {'connected_gene': 'GC09P033176', 'score': 0.44}, {'connected_gene': 'SPINK4', 'score': 0.28}, {'connected_gene': 'GC09M033166', 'score': 0.13}, {'connected_gene': 'GC09M033168', 'score': 0.13}, {'connected_gene': 'GC09M033167', 'score': 0.13}]
chr9	GH09I033188	33188677	33190688	0.4	[{'connected_gene': 'B4GALT1', 'score': 17.64}, {'connected_gene': 'B4GALT1-AS1', 'score': 12.27}, {'connected_gene': 'ANXA2P2', 'score': 5.28}, {'connected_gene': 'NFX1', 'score': 4.74}, {'connected_gene': 'GC09P033176', 'score': 0.37}, {'connected_gene': 'SPINK4', 'score': 0.31}, {'connected_gene': 'GC09M033166', 'score': 0.14}, {'connected_gene': 'GC09M033168', 'score': 0.14}, {'connected_gene': 'GC09M033167', 'score': 0.14}]
chr9	GH09I033133	33133699	33146569	1.38	[{'connected_gene': 'B4GALT1', 'score': 34.83}, {'connected_gene': 'B4GALT1-AS1', 'score': 12.39}, {'connected_gene': 'RNU4ATAC15P', 'score': 12.0}, {'connected_gene': 'SPINK4', 'score': 11.52}, {'connected_gene': 'SMU1', 'score': 11.25}, {'connected_gene': 'BAG1', 'score': 10.86}, {'connected_gene': 'CHMP5', 'score': 10.86}, {'connected_gene': 'OSTCP8', 'score': 4.56}]
chr9	GH09I033121	33121092	33121388	0.2	[{'connected_gene': 'B4GALT1', 'score': 11.66}, {'connected_gene': 'B4GALT1-AS1', 'score': 11.66}, {'connected_gene': 'RNU4ATAC15P', 'score': 11.43}, {'connected_gene': 'SPINK4', 'score': 11.01}, {'connected_gene': 'SMU1', 'score': 0.26}]
chr9	GH09I033120	33120232	33120981	0.49	[{'connected_gene': 'B4GALT1', 'score': 19.71}, {'connected_gene': 'B4GALT1-AS1', 'score': 11.66}, {'connected_gene': 'RNU4ATAC15P', 'score': 11.43}, {'connected_gene': 'SPINK4', 'score': 11.01}, {'connected_gene': 'OSTCP8', 'score': 4.33}, {'connected_gene': 'SMU1', 'score': 0.26}]
chr9	GH09I033123	33123351	33127005	1.03	[{'connected_gene': 'B4GALT1', 'score': 32.24}, {'connected_gene': 'B4GALT1-AS1', 'score': 11.73}, {'connected_gene': 'RNU4ATAC15P', 'score': 11.45}, {'connected_gene': 'SPINK4', 'score': 11.01}, {'connected_gene': 'OSTCP8', 'score': 4.55}, {'connected_gene': 'SMU1', 'score': 0.25}]
chr9	GH09I033221	33221063	33222379	0.89	[{'connected_gene': 'RNU4ATAC15P', 'score': 12.02}, {'connected_gene': 'B4GALT1-AS1', 'score': 11.65}, {'connected_gene': 'B4GALT1', 'score': 11.65}, {'connected_gene': 'SMU1', 'score': 11.3}, {'connected_gene': 'BAG1', 'score': 10.68}, {'connected_gene': 'CHMP5', 'score': 10.68}, {'connected_gene': 'SPINK4', 'score': 0.77}, {'connected_gene': 'GC09P033251', 'score': 0.31}, {'connected_gene': 'GC09M033166', 'score': 0.18}, {'connected_gene': 'GC09M033168', 'score': 0.18}, {'connected_gene': 'GC09M033167', 'score': 0.18}]
chr9	GH09I033202	33202143	33203311	1.32	[{'connected_gene': 'RNU4ATAC15P', 'score': 11.71}, {'connected_gene': 'B4GALT1-AS1', 'score': 11.69}, {'connected_gene': 'B4GALT1', 'score': 11.69}, {'connected_gene': 'SMU1', 'score': 10.86}, {'connected_gene': 'SPINK4', 'score': 0.37}, {'connected_gene': 'GC09P033176', 'score': 0.31}, {'connected_gene': 'GC09M033166', 'score': 0.15}, {'connected_gene': 'GC09M033168', 'score': 0.15}, {'connected_gene': 'GC09M033167', 'score': 0.15}]
chr9	GH09I033225	33225317	33226312	1.22	[{'connected_gene': 'B4GALT1-AS1', 'score': 12.05}, {'connected_gene': 'B4GALT1', 'score': 12.05}, {'connected_gene': 'SMU1', 'score': 11.86}, {'connected_gene': 'RNU4ATAC15P', 'score': 11.85}, {'connected_gene': 'DNAJA1', 'score': 10.77}, {'connected_gene': 'APTX', 'score': 10.77}, {'connected_gene': 'SPINK4', 'score': 0.44}, {'connected_gene': 'GC09P033251', 'score': 0.31}, {'connected_gene': 'GC09M033166', 'score': 0.19}, {'connected_gene': 'GC09M033168', 'score': 0.19}, {'connected_gene': 'GC09M033167', 'score': 0.19}]
chr9	GH09I033197	33197352	33198555	0.63	[{'connected_gene': 'B4GALT1-AS1', 'score': 11.83}, {'connected_gene': 'B4GALT1', 'score': 11.83}, {'connected_gene': 'RNU4ATAC15P', 'score': 11.47}, {'connected_gene': 'BAG1', 'score': 10.88}, {'connected_gene': 'CHMP5', 'score': 10.88}, {'connected_gene': 'NDUFB6', 'score': 6.33}, {'connected_gene': 'GC09P033176', 'score': 0.34}, {'connected_gene': 'SPINK4', 'score': 0.34}, {'connected_gene': 'GC09M033166', 'score': 0.15}, {'connected_gene': 'GC09M033168', 'score': 0.15}, {'connected_gene': 'GC09M033167', 'score': 0.15}]
chr9	GH09I033250	33250040	33251129	0.63	[{'connected_gene': 'GC09P033251', 'score': 550.77}, {'connected_gene': 'BAG1', 'score': 4.59}, {'connected_gene': 'SPINK4', 'score': 0.29}, {'connected_gene': 'GC09M033166', 'score': 0.25}, {'connected_gene': 'GC09M033168', 'score': 0.25}, {'connected_gene': 'GC09M033167', 'score': 0.25}]
chr9	GH09I033249	33249443	33249592	0.52	[{'connected_gene': 'GC09P033251', 'score': 550.77}, {'connected_gene': 'BAG1', 'score': 6.24}, {'connected_gene': 'SPINK4', 'score': 0.29}, {'connected_gene': 'GC09M033166', 'score': 0.25}, {'connected_gene': 'GC09M033168', 'score': 0.25}, {'connected_gene': 'GC09M033167', 'score': 0.25}]