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
ENST00000272163	[[225589203, 225591165], [225592105, 225592228], [225592327, 225592408], [225594365, 225594534], [225597992, 225598118], [225599038, 225599142], [225600155, 225600347], [225602979, 225603034], [225605685, 225605882], [225606964, 225607154], [225607416, 225607500], [225609778, 225609979], [225611612, 225611791], [225615655, 225615737]]	[[225591004, 225591165], [225592105, 225592228], [225592327, 225592408], [225594365, 225594534], [225597992, 225598118], [225599038, 225599142], [225600155, 225600347], [225602979, 225603034], [225605685, 225605882], [225606964, 225607154], [225607416, 225607500], [225609778, 225609979], [225611612, 225611777]]
ENST00000338179	[[225589204, 225591165], [225592105, 225592228], [225592327, 225592408], [225594365, 225594534], [225597992, 225598118], [225599038, 225599142], [225600155, 225600347], [225602979, 225603034], [225605685, 225605882], [225606964, 225607154], [225607416, 225607500], [225609778, 225609979], [225611612, 225611791], [225616407, 225616519]]	[[225591004, 225591165], [225592105, 225592228], [225592327, 225592408], [225594365, 225594534], [225597992, 225598118], [225599038, 225599142], [225600155, 225600347], [225602979, 225603034], [225605685, 225605882], [225606964, 225607154], [225607416, 225607500], [225609778, 225609979], [225611612, 225611777]]
ENST00000441022	[[225590791, 225591165], [225592105, 225592267]]	[[225591004, 225591165], [225592105, 225592267]]
ENST00000424022	[[225594263, 225594534], [225597992, 225598118], [225599038, 225599119]]	[[225594354, 225594534], [225597992, 225598118], [225599038, 225599119]]
ENST00000487054	[[225605251, 225605882], [225606964, 225607064]]	None
ENST00000425080	[[225606964, 225607154], [225607416, 225607500], [225609778, 225609979], [225611612, 225611791], [225616407, 225616627]]	[[225606964, 225607154], [225607416, 225607500], [225609778, 225609979], [225611612, 225611777]]
ENST00000488632	[[225607426, 225607500], [225609778, 225610129]]	None
ENST00000421383	[[225611622, 225611791], [225615032, 225615599]]	[[225611622, 225611777]]
NM_002296	[[225589203, 225591165], [225592105, 225592228], [225592327, 225592408], [225594365, 225594534], [225597992, 225598118], [225599038, 225599142], [225600155, 225600347], [225602979, 225603034], [225605685, 225605882], [225606964, 225607154], [225607416, 225607500], [225609778, 225609979], [225611612, 225611791], [225615655, 225615815]]	[[225591004, 225591165], [225592105, 225592228], [225592327, 225592408], [225594365, 225594534], [225597992, 225598118], [225599038, 225599142], [225600155, 225600347], [225602979, 225603034], [225605685, 225605882], [225606964, 225607154], [225607416, 225607500], [225609778, 225609979], [225611612, 225611777]]
NM_194442	[[225589203, 225591165], [225592105, 225592228], [225592327, 225592408], [225594365, 225594534], [225597992, 225598118], [225599038, 225599142], [225600155, 225600347], [225602979, 225603034], [225605685, 225605882], [225606964, 225607154], [225607416, 225607500], [225609778, 225609979], [225611612, 225611791], [225616407, 225616557]]	[[225591004, 225591165], [225592105, 225592228], [225592327, 225592408], [225594365, 225594534], [225597992, 225598118], [225599038, 225599142], [225600155, 225600347], [225602979, 225603034], [225605685, 225605882], [225606964, 225607154], [225607416, 225607500], [225609778, 225609979], [225611612, 225611777]]

Promoter

Chrom	Start	End	Description
chr1	225615723	225615802	CAGE_peak_1_at_LBR_5end
chr1	225615810	225615821	CAGE_peak_2_at_LBR_5end
chr1	225616515	225616531	CAGE_peak_3_at_LBR_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I225895	225895885	225900310	1.6	[{'connected_gene': 'TMEM63A', 'score': 20.11}, {'connected_gene': 'LEFTY1', 'score': 14.81}, {'connected_gene': 'LEFTY2', 'score': 9.04}, {'connected_gene': 'LBR', 'score': 7.36}, {'connected_gene': 'SDE2', 'score': 6.38}, {'connected_gene': 'H3F3A', 'score': 1.91}, {'connected_gene': 'ENSG00000255835', 'score': 0.31}]
chr1	GH01I225477	225477740	225478451	0.85	[{'connected_gene': 'ACBD3', 'score': 9.97}, {'connected_gene': 'LBR', 'score': 5.67}, {'connected_gene': 'LOC105373110', 'score': 0.39}, {'connected_gene': 'ENAH', 'score': 0.09}]
chr1	GH01I225480	225480809	225481329	1.06	[{'connected_gene': 'ACBD3', 'score': 20.75}, {'connected_gene': 'LINC01703', 'score': 15.84}, {'connected_gene': 'ENAH', 'score': 10.98}, {'connected_gene': 'ACBD3-AS1', 'score': 10.35}, {'connected_gene': 'LBR', 'score': 8.98}, {'connected_gene': 'LOC105373110', 'score': 0.37}]
chr1	GH01I225650	225650400	225658956	2.55	[{'connected_gene': 'ENAH', 'score': 575.74}, {'connected_gene': 'ACBD3', 'score': 100.09}, {'connected_gene': 'ACBD3-AS1', 'score': 59.98}, {'connected_gene': 'LINC01703', 'score': 34.86}, {'connected_gene': 'LBR', 'score': 13.3}, {'connected_gene': 'LOC105373110', 'score': 10.75}, {'connected_gene': 'SDE2', 'score': 10.37}, {'connected_gene': 'ENSG00000272562', 'score': 9.98}, {'connected_gene': 'H3F3A', 'score': 9.86}]
chr1	GH01I225444	225444057	225450181	1.48	[{'connected_gene': 'LBR', 'score': 36.15}, {'connected_gene': 'ACBD3', 'score': 13.88}, {'connected_gene': 'ACBD3-AS1', 'score': 10.86}, {'connected_gene': 'ENAH', 'score': 6.03}, {'connected_gene': 'GC01M225252', 'score': 0.39}, {'connected_gene': 'ENSG00000282418', 'score': 0.37}, {'connected_gene': 'LOC105373110', 'score': 0.37}]
chr1	GH01I225424	225424124	225429641	2.56	[{'connected_gene': 'LBR', 'score': 571.22}, {'connected_gene': 'ACBD3', 'score': 47.49}, {'connected_gene': 'ACBD3-AS1', 'score': 31.86}, {'connected_gene': 'LINC01703', 'score': 25.14}, {'connected_gene': 'ENAH', 'score': 21.4}, {'connected_gene': 'WDR26', 'score': 20.08}, {'connected_gene': 'SDE2', 'score': 10.35}, {'connected_gene': 'ENSG00000272562', 'score': 9.96}, {'connected_gene': 'LOC105373110', 'score': 6.5}, {'connected_gene': 'GC01M225252', 'score': 0.44}, {'connected_gene': 'GC01M225093', 'score': 0.06}]
chr1	GH01I225439	225439994	225443747	1.31	[{'connected_gene': 'LBR', 'score': 43.7}, {'connected_gene': 'ACBD3', 'score': 25.41}, {'connected_gene': 'ACBD3-AS1', 'score': 20.31}, {'connected_gene': 'LOC105373110', 'score': 10.99}, {'connected_gene': 'SDE2', 'score': 10.29}, {'connected_gene': 'H3F3A', 'score': 5.59}, {'connected_gene': 'ENAH', 'score': 4.76}, {'connected_gene': 'GC01M225252', 'score': 0.44}, {'connected_gene': 'ENSG00000282418', 'score': 0.34}]
chr1	GH01I225642	225642108	225643723	0.43	[{'connected_gene': 'LBR', 'score': 4.76}, {'connected_gene': 'ENAH', 'score': 0.37}, {'connected_gene': 'LOC105373110', 'score': 0.1}]
chr1	GH01I225378	225378978	225379263	0.84	[{'connected_gene': 'LBR', 'score': 16.18}, {'connected_gene': 'GC01M225252', 'score': 0.22}, {'connected_gene': 'GC01M225093', 'score': 0.07}, {'connected_gene': 'DNAH14', 'score': 0.04}]
chr1	GH01I225604	225604647	225605555	0.65	[{'connected_gene': 'LBR', 'score': 16.02}, {'connected_gene': 'LINC01703', 'score': 15.86}, {'connected_gene': 'ACBD3-AS1', 'score': 12.03}, {'connected_gene': 'ACBD3', 'score': 11.13}, {'connected_gene': 'ENAH', 'score': 11.11}, {'connected_gene': 'LOC105373110', 'score': 0.12}]
chr1	GH01I225481	225481832	225485868	0.57	[{'connected_gene': 'LBR', 'score': 5.22}, {'connected_gene': 'LOC105373110', 'score': 0.37}, {'connected_gene': 'ENAH', 'score': 0.1}]
chr1	GH01I225522	225522713	225523947	0.38	[{'connected_gene': 'LBR', 'score': 9.15}, {'connected_gene': 'LOC105373110', 'score': 0.22}, {'connected_gene': 'ENAH', 'score': 0.12}]
chr1	GH01I225450	225450201	225451601	1.2	[{'connected_gene': 'LBR', 'score': 12.56}, {'connected_gene': 'ENSG00000282418', 'score': 0.39}, {'connected_gene': 'LOC105373110', 'score': 0.39}, {'connected_gene': 'GC01M225252', 'score': 0.37}]
chr1	GH01I225412	225412959	225413472	0.75	[{'connected_gene': 'LBR', 'score': 0.37}, {'connected_gene': 'GC01M225252', 'score': 0.34}, {'connected_gene': 'GC01M225093', 'score': 0.06}]
chr1	GH01I225421	225421801	225423000	0.72	[{'connected_gene': 'LBR', 'score': 12.9}, {'connected_gene': 'GC01M225252', 'score': 0.39}, {'connected_gene': 'GC01M225093', 'score': 0.06}]
chr1	GH01I225437	225437320	225439277	0.59	[{'connected_gene': 'LBR', 'score': 25.89}, {'connected_gene': 'GC01M225252', 'score': 0.77}, {'connected_gene': 'ENSG00000282418', 'score': 0.31}]
chr1	GH01I225423	225423402	225423800	0.83	[{'connected_gene': 'LBR', 'score': 0.44}, {'connected_gene': 'GC01M225252', 'score': 0.39}, {'connected_gene': 'GC01M225093', 'score': 0.06}]
chr1	GH01I226060	226060513	226066089	2.31	[{'connected_gene': 'H3F3A', 'score': 574.08}, {'connected_gene': 'ENSG00000272562', 'score': 550.77}, {'connected_gene': 'ACBD3-AS1', 'score': 31.28}, {'connected_gene': 'SDE2', 'score': 23.45}, {'connected_gene': 'LOC105373110', 'score': 19.46}, {'connected_gene': 'LINC01703', 'score': 16.15}, {'connected_gene': 'ENAH', 'score': 10.94}, {'connected_gene': 'MIXL1', 'score': 10.74}, {'connected_gene': 'ACBD3', 'score': 10.41}, {'connected_gene': 'LBR', 'score': 9.79}, {'connected_gene': 'GC01P226072', 'score': 0.44}]
chr1	GH01I225474	225474802	225475719	1.21	[{'connected_gene': 'ACBD3-AS1', 'score': 11.94}, {'connected_gene': 'LOC105373110', 'score': 11.27}, {'connected_gene': 'ACBD3', 'score': 10.42}, {'connected_gene': 'LBR', 'score': 6.46}, {'connected_gene': 'ENAH', 'score': 0.09}]
chr1	GH01I225459	225459755	225469289	1.75	[{'connected_gene': 'LOC105373110', 'score': 562.61}, {'connected_gene': 'ENSG00000282418', 'score': 550.77}, {'connected_gene': 'LBR', 'score': 56.31}, {'connected_gene': 'ACBD3', 'score': 13.87}, {'connected_gene': 'ACBD3-AS1', 'score': 10.86}, {'connected_gene': 'ENSG00000255835', 'score': 10.81}, {'connected_gene': 'PYCR2', 'score': 10.81}, {'connected_gene': 'LEFTY2', 'score': 10.81}, {'connected_gene': 'ENSG00000248322', 'score': 10.81}, {'connected_gene': 'ENAH', 'score': 6.89}, {'connected_gene': 'TMEM63A', 'score': 3.18}, {'connected_gene': 'GC01M225252', 'score': 0.31}]
chr1	GH01I225699	225699060	225701855	1.17	[{'connected_gene': 'LOC102723834', 'score': 550.77}, {'connected_gene': 'LBR', 'score': 5.78}, {'connected_gene': 'ENAH', 'score': 5.23}]
chr1	GH01I225670	225670692	225672138	0.86	[{'connected_gene': 'LOC102723834', 'score': 12.5}, {'connected_gene': 'ENSG00000255835', 'score': 10.46}, {'connected_gene': 'PYCR2', 'score': 10.46}, {'connected_gene': 'ENSG00000248322', 'score': 10.45}, {'connected_gene': 'LEFTY2', 'score': 10.45}, {'connected_gene': 'LBR', 'score': 4.56}, {'connected_gene': 'ENAH', 'score': 0.44}]
chr1	GH01I225228	225228959	225228988	0.85	[{'connected_gene': 'GC01M225093', 'score': 0.16}, {'connected_gene': 'LBR', 'score': 0.08}, {'connected_gene': 'DNAH14', 'score': 0.06}]
chr1	GH01I225435	225435623	225436651	0.76	[{'connected_gene': 'GC01M225252', 'score': 550.77}, {'connected_gene': 'LBR', 'score': 5.62}, {'connected_gene': 'ENSG00000282418', 'score': 0.31}]
chr1	GH01I225469	225469795	225471605	0.46	[{'connected_gene': 'ENSG00000255835', 'score': 10.81}, {'connected_gene': 'PYCR2', 'score': 10.81}, {'connected_gene': 'LEFTY2', 'score': 10.81}, {'connected_gene': 'ENSG00000248322', 'score': 10.81}, {'connected_gene': 'ENAH', 'score': 6.58}, {'connected_gene': 'LBR', 'score': 5.56}, {'connected_gene': 'ENSG00000282418', 'score': 0.44}, {'connected_gene': 'LOC105373110', 'score': 0.44}]
chr1	GH01I225766	225766369	225770027	1.78	[{'connected_gene': 'ENSG00000255835', 'score': 10.54}, {'connected_gene': 'PYCR2', 'score': 10.54}, {'connected_gene': 'ENSG00000248322', 'score': 10.54}, {'connected_gene': 'LEFTY2', 'score': 10.53}, {'connected_gene': 'LEFTY1', 'score': 10.45}, {'connected_gene': 'LBR', 'score': 10.19}, {'connected_gene': 'ENAH', 'score': 7.85}, {'connected_gene': 'SRP9', 'score': 0.44}, {'connected_gene': 'RNU6-1304P', 'score': 0.31}]
chr1	GH01I225735	225735084	225737661	1.28	[{'connected_gene': 'ENSG00000226349', 'score': 550.77}, {'connected_gene': 'LOC102723834', 'score': 12.23}, {'connected_gene': 'ENAH', 'score': 10.87}, {'connected_gene': 'ENSG00000272562', 'score': 9.98}, {'connected_gene': 'LBR', 'score': 9.4}, {'connected_gene': 'GC01P225742', 'score': 0.77}]