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
ENST00000297991	[[33441151, 33442209], [33442298, 33442516], [33442849, 33442968], [33443318, 33443456], [33443763, 33443890], [33447420, 33447609]]	[[33442040, 33442209], [33442298, 33442516], [33442849, 33442968], [33443318, 33443456], [33443763, 33443890], [33447420, 33447528]]
ENST00000493581	[[33441153, 33443890], [33447420, 33447594]]	None
ENST00000494313	[[33441180, 33442209], [33442298, 33442516], [33442849, 33443107]]	None
ENST00000463983	[[33442301, 33442516], [33442849, 33443456], [33443763, 33443890], [33447420, 33447580]]	None
ENST00000473153	[[33442378, 33442516], [33442849, 33442968], [33443176, 33443456], [33443763, 33443890], [33447420, 33447507]]	None
NM_004925	[[33441151, 33442209], [33442298, 33442516], [33442849, 33442968], [33443318, 33443456], [33443763, 33443890], [33447420, 33447631]]	[[33442040, 33442209], [33442298, 33442516], [33442849, 33442968], [33443318, 33443456], [33443763, 33443890], [33447420, 33447528]]
NM_001318144	[[33441151, 33442209], [33442849, 33442968], [33443318, 33443456], [33443763, 33443890], [33447420, 33447631]]	[[33441987, 33442209], [33442849, 33442968], [33443318, 33443456], [33443763, 33443890], [33447420, 33447528]]

Promoter

Chrom	Start	End	Description
chr9	33442888	33442912	CAGE_peak_7_at_AQP3_5end
chr9	33442950	33442960	CAGE_peak_12_at_AQP3_5end
chr9	33442964	33442978	CAGE_peak_4_at_AQP3_5end
chr9	33442986	33443001	CAGE_peak_3_at_AQP3_5end
chr9	33443031	33443039	CAGE_peak_25_at_AQP3_5end
chr9	33443052	33443089	CAGE_peak_2_at_AQP3_5end
chr9	33443092	33443120	CAGE_peak_8_at_AQP3_5end
chr9	33443132	33443142	CAGE_peak_26_at_AQP3_5end
chr9	33443441	33443459	CAGE_peak_6_at_AQP3_5end
chr9	33443566	33443587	CAGE_peak_16_at_AQP3_5end
chr9	33443824	33443840	CAGE_peak_9_at_AQP3_5end
chr9	33447584	33447600	CAGE_peak_1_at_AQP3_5end
chr9	33447766	33447791	CAGE_peak_5_at_AQP3_5end
chr9	33447797	33447802	CAGE_peak_38_at_AQP3_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr9	GH09I033505	33505947	33508272	0.98	[{'connected_gene': 'NOL6', 'score': 19.17}, {'connected_gene': 'AQP3', 'score': 10.52}, {'connected_gene': 'ANKRD18B', 'score': 9.39}, {'connected_gene': 'SUGT1P1', 'score': 0.77}, {'connected_gene': 'PIR50034', 'score': 0.77}]
chr9	GH09I033318	33318409	33323235	1.08	[{'connected_gene': 'NFX1', 'score': 22.53}, {'connected_gene': 'BAG1', 'score': 17.63}, {'connected_gene': 'CHMP5', 'score': 11.69}, {'connected_gene': 'LOC105376020', 'score': 11.07}, {'connected_gene': 'AQP7', 'score': 11.07}, {'connected_gene': 'AQP3', 'score': 10.96}, {'connected_gene': 'B4GALT1-AS1', 'score': 9.56}, {'connected_gene': 'B4GALT1', 'score': 9.56}, {'connected_gene': 'PIR45697', 'score': 0.34}, {'connected_gene': 'GC09M033166', 'score': 0.34}, {'connected_gene': 'GC09P033345', 'score': 0.34}]
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	GH09I033523	33523257	33525201	1.9	[{'connected_gene': 'ANKRD18B', 'score': 562.74}, {'connected_gene': 'PIR41298', 'score': 550.77}, {'connected_gene': 'GC09P033525', 'score': 550.77}, {'connected_gene': 'AQP3', 'score': 12.17}, {'connected_gene': 'NOL6', 'score': 11.03}, {'connected_gene': 'APTX', 'score': 10.3}, {'connected_gene': 'CYP4F26P', 'score': 9.53}, {'connected_gene': 'ENSG00000228072', 'score': 0.44}]
chr9	GH09I033455	33455876	33459942	1.17	[{'connected_gene': 'AQP7', 'score': 18.46}, {'connected_gene': 'NOL6', 'score': 12.93}, {'connected_gene': 'AQP3', 'score': 12.53}, {'connected_gene': 'LOC105376020', 'score': 12.05}, {'connected_gene': 'BAG1', 'score': 9.69}, {'connected_gene': 'CHMP5', 'score': 9.69}, {'connected_gene': 'SUGT1P1', 'score': 5.41}, {'connected_gene': 'PTENP1', 'score': 5.26}, {'connected_gene': 'GC09P033453', 'score': 0.77}, {'connected_gene': 'MIR6851', 'score': 0.39}]
chr9	GH09I033434	33434879	33436592	0.82	[{'connected_gene': 'AQP7', 'score': 22.47}, {'connected_gene': 'AQP3', 'score': 20.12}, {'connected_gene': 'PIR43065', 'score': 0.29}]
chr9	GH09I033413	33413998	33418853	1.43	[{'connected_gene': 'AQP3', 'score': 22.21}, {'connected_gene': 'NOL6', 'score': 10.91}, {'connected_gene': 'NFX1', 'score': 10.66}, {'connected_gene': 'TCEA1P4', 'score': 10.62}, {'connected_gene': 'ANXA2P2', 'score': 9.73}, {'connected_gene': 'AQP7', 'score': 7.01}, {'connected_gene': 'LOC105376020', 'score': 5.91}, {'connected_gene': 'PIR43065', 'score': 0.39}]
chr9	GH09I033438	33438923	33439892	0.69	[{'connected_gene': 'AQP3', 'score': 16.72}, {'connected_gene': 'NOL6', 'score': 7.23}, {'connected_gene': 'PIR43065', 'score': 0.28}]
chr9	GH09I033419	33419686	33420879	0.43	[{'connected_gene': 'AQP3', 'score': 26.93}, {'connected_gene': 'NOL6', 'score': 11.66}, {'connected_gene': 'PIR43065', 'score': 0.37}]
chr9	GH09I033518	33518283	33518432	0.46	[{'connected_gene': 'AQP3', 'score': 5.69}, {'connected_gene': 'ENSG00000228072', 'score': 0.77}, {'connected_gene': 'ANKRD18B', 'score': 0.44}]
chr9	GH09I033426	33426389	33427637	0.72	[{'connected_gene': 'AQP3', 'score': 12.17}, {'connected_gene': 'SUGT1P1', 'score': 6.03}, {'connected_gene': 'NOL6', 'score': 5.77}, {'connected_gene': 'PIR43065', 'score': 0.34}]
chr9	GH09I033442	33442303	33448480	2.53	[{'connected_gene': 'AQP3', 'score': 564.0}, {'connected_gene': 'AQP7', 'score': 20.34}, {'connected_gene': 'NOL6', 'score': 11.48}, {'connected_gene': 'PTENP1', 'score': 5.69}, {'connected_gene': 'NFX1', 'score': 1.63}, {'connected_gene': 'BAG1', 'score': 1.25}, {'connected_gene': 'SMU1', 'score': 1.22}, {'connected_gene': 'PIR43065', 'score': 0.26}]
chr9	GH09I033436	33436704	33437290	0.79	[{'connected_gene': 'AQP3', 'score': 28.66}, {'connected_gene': 'AQP7', 'score': 5.7}, {'connected_gene': 'NOL6', 'score': 5.42}, {'connected_gene': 'PIR43065', 'score': 0.29}]
chr9	GH09I033390	33390066	33395836	1.37	[{'connected_gene': 'AQP3', 'score': 18.5}, {'connected_gene': 'AQP7', 'score': 12.4}, {'connected_gene': 'NFX1', 'score': 10.29}, {'connected_gene': 'CHMP5', 'score': 4.1}, {'connected_gene': 'PIR41360', 'score': 0.77}, {'connected_gene': 'ENSG00000200544', 'score': 0.26}]
chr9	GH09I033430	33430704	33431843	0.84	[{'connected_gene': 'AQP3', 'score': 23.0}, {'connected_gene': 'AQP7', 'score': 7.09}, {'connected_gene': 'NDUFB6', 'score': 4.48}, {'connected_gene': 'PIR43065', 'score': 0.31}]
chr9	GH09I033461	33461554	33462665	0.38	[{'connected_gene': 'AQP3', 'score': 13.84}, {'connected_gene': 'AQP7', 'score': 11.59}, {'connected_gene': 'LOC105376020', 'score': 11.57}, {'connected_gene': 'BAG1', 'score': 9.69}, {'connected_gene': 'CHMP5', 'score': 9.69}, {'connected_gene': 'ANKRD18B', 'score': 9.11}, {'connected_gene': 'CYP4F26P', 'score': 4.57}, {'connected_gene': 'GC09P033453', 'score': 0.44}, {'connected_gene': 'MIR6851', 'score': 0.44}, {'connected_gene': 'NOL6', 'score': 0.39}]
chr9	GH09I033437	33437818	33438533	0.31	[{'connected_gene': 'AQP3', 'score': 0.44}, {'connected_gene': 'PIR43065', 'score': 0.29}]
chr9	GH09I033435	33434543	33434752	0.46	[{'connected_gene': 'AQP3', 'score': 0.39}, {'connected_gene': 'PIR43065', 'score': 0.29}]
chr9	GH09I033424	33424960	33425662	0.69	[{'connected_gene': 'AQP3', 'score': 29.83}, {'connected_gene': 'PIR43065', 'score': 0.34}]
chr9	GH09I033517	33517600	33517800	0.59	[{'connected_gene': 'CYP4F26P', 'score': 10.8}, {'connected_gene': 'AQP3', 'score': 5.82}, {'connected_gene': 'ENSG00000228072', 'score': 0.77}, {'connected_gene': 'ANKRD18B', 'score': 0.44}]
chr9	GH09I033403	33403200	33403801	0.9	[{'connected_gene': 'LOC105376020', 'score': 550.77}, {'connected_gene': 'PIR43065', 'score': 550.77}, {'connected_gene': 'AQP7', 'score': 550.77}, {'connected_gene': 'AQP3', 'score': 0.26}]
chr9	GH09I033452	33452423	33454974	1.25	[{'connected_gene': 'GC09P033453', 'score': 550.77}, {'connected_gene': 'AQP3', 'score': 14.64}, {'connected_gene': 'NOL6', 'score': 12.76}, {'connected_gene': 'ANKRD18B', 'score': 8.94}, {'connected_gene': 'CYP4F26P', 'score': 5.95}, {'connected_gene': 'PTENP1', 'score': 5.26}, {'connected_gene': 'MIR6851', 'score': 0.39}]
chr9	GH09I033404	33404601	33405000	0.31	[{'connected_gene': 'PIR43065', 'score': 550.77}, {'connected_gene': 'AQP3', 'score': 11.96}, {'connected_gene': 'AQP7', 'score': 7.39}, {'connected_gene': 'LOC105376020', 'score': 5.21}]
chr9	GH09I033450	33450078	33451445	0.2	[{'connected_gene': 'ENSG00000270542', 'score': 550.77}, {'connected_gene': 'AQP3', 'score': 8.65}, {'connected_gene': 'AQP7', 'score': 8.54}, {'connected_gene': 'GC09P033453', 'score': 0.77}]