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
ENST00000322716	[[37027356, 37034795]]	[[37032744, 37034568]]
NM_014805	[[37027356, 37034795]]	[[37032744, 37034568]]

Promoter

Chrom	Start	End	Description
chr3	37031928	37031939	CAGE_peak_6_at_EPM2AIP1_5end
chr3	37034293	37034337	CAGE_peak_8_at_EPM2AIP1_5end
chr3	37034563	37034580	CAGE_peak_4_at_EPM2AIP1_5end
chr3	37034595	37034613	CAGE_peak_2_at_EPM2AIP1_5end
chr3	37034614	37034646	CAGE_peak_1_at_EPM2AIP1_5end
chr3	37034648	37034670	CAGE_peak_3_at_EPM2AIP1_5end
chr3	37034671	37034692	CAGE_peak_5_at_EPM2AIP1_5end
chr3	37034702	37034713	CAGE_peak_7_at_EPM2AIP1_5end
chr3	37035153	37035158	CAGE_peak_14_at_EPM2AIP1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr3	GH03I036905	36905368	36909846	1.9	[{'connected_gene': 'TRANK1', 'score': 12.1}, {'connected_gene': 'LRRFIP2', 'score': 11.74}, {'connected_gene': 'EPM2AIP1', 'score': 10.18}, {'connected_gene': 'ENSG00000234073', 'score': 8.16}, {'connected_gene': 'GOLGA4', 'score': 4.28}, {'connected_gene': 'MLH1', 'score': 1.9}, {'connected_gene': 'GC03M036882', 'score': 0.44}, {'connected_gene': 'GC03P036930', 'score': 0.34}]
chr3	GH03I037375	37375409	37375988	0.49	[{'connected_gene': 'EPM2AIP1', 'score': 14.84}, {'connected_gene': 'ENSG00000271993', 'score': 13.41}, {'connected_gene': 'GOLGA4', 'score': 7.38}, {'connected_gene': 'C3orf35', 'score': 0.39}, {'connected_gene': 'RNA5SP129', 'score': 0.29}, {'connected_gene': 'GC03P036930', 'score': 0.05}]
chr3	GH03I037607	37607440	37610200	1.02	[{'connected_gene': 'EPM2AIP1', 'score': 30.02}, {'connected_gene': 'ENSG00000271993', 'score': 26.67}, {'connected_gene': 'NDUFAF4P3', 'score': 23.41}, {'connected_gene': 'RPL18AP7', 'score': 21.09}, {'connected_gene': 'ENSG00000271653', 'score': 12.27}, {'connected_gene': 'ACVR2B', 'score': 12.06}, {'connected_gene': 'RNU7-73P', 'score': 11.48}, {'connected_gene': 'ITGA9-AS1', 'score': 10.78}, {'connected_gene': 'ITGA9', 'score': 10.72}, {'connected_gene': 'ENSG00000272334', 'score': 10.04}, {'connected_gene': 'GC03P037721', 'score': 0.14}]
chr3	GH03I037181	37181368	37185327	1.09	[{'connected_gene': 'LRRFIP2', 'score': 614.17}, {'connected_gene': 'ENSG00000271993', 'score': 564.1}, {'connected_gene': 'EPM2AIP1', 'score': 14.87}, {'connected_gene': 'MLH1', 'score': 8.38}, {'connected_gene': 'GC03P037179', 'score': 0.44}, {'connected_gene': 'GC03P036930', 'score': 0.07}]
chr3	GH03I036911	36911115	36913763	1.62	[{'connected_gene': 'LRRFIP2', 'score': 18.44}, {'connected_gene': 'C3orf35', 'score': 13.01}, {'connected_gene': 'ENSG00000272334', 'score': 11.02}, {'connected_gene': 'EPM2AIP1', 'score': 4.77}, {'connected_gene': 'TRANK1', 'score': 3.35}, {'connected_gene': 'GOLGA4', 'score': 1.58}, {'connected_gene': 'MLH1', 'score': 1.21}, {'connected_gene': 'GC03M036882', 'score': 0.39}, {'connected_gene': 'GC03P036930', 'score': 0.37}]
chr3	GH03I036957	36957210	36959213	1.52	[{'connected_gene': 'LRRFIP2', 'score': 70.52}, {'connected_gene': 'C3orf35', 'score': 13.01}, {'connected_gene': 'EPM2AIP1', 'score': 12.38}, {'connected_gene': 'ENSG00000272334', 'score': 11.17}, {'connected_gene': 'RPL29P11', 'score': 10.62}, {'connected_gene': 'MLH1', 'score': 2.75}, {'connected_gene': 'RNU6ATAC4P', 'score': 0.39}, {'connected_gene': 'GC03M036968', 'score': 0.39}, {'connected_gene': 'GC03P036930', 'score': 0.31}, {'connected_gene': 'TRANK1', 'score': 0.29}]
chr3	GH03I036494	36494215	36495651	0.89	[{'connected_gene': 'STAC', 'score': 10.42}, {'connected_gene': 'EPM2AIP1', 'score': 5.84}, {'connected_gene': 'MLH1', 'score': 1.64}, {'connected_gene': 'NBPF21P', 'score': 0.11}]
chr3	GH03I036988	36988002	36995061	2.31	[{'connected_gene': 'MLH1', 'score': 558.23}, {'connected_gene': 'TRANK1', 'score': 550.77}, {'connected_gene': 'EPM2AIP1', 'score': 550.77}, {'connected_gene': 'LRRFIP2', 'score': 73.27}, {'connected_gene': 'ENSG00000272334', 'score': 20.73}, {'connected_gene': 'RPS16P4', 'score': 10.49}, {'connected_gene': 'GC03P036930', 'score': 0.21}]
chr3	GH03I036890	36890954	36896400	1.5	[{'connected_gene': 'MLH1', 'score': 12.46}, {'connected_gene': 'EPM2AIP1', 'score': 12.37}, {'connected_gene': 'TRANK1', 'score': 11.95}, {'connected_gene': 'ENSG00000234073', 'score': 11.07}, {'connected_gene': 'DCLK3', 'score': 9.83}, {'connected_gene': 'GC03M036882', 'score': 0.44}]
chr3	GH03I037179	37179799	37180044	0.34	[{'connected_gene': 'MLH1', 'score': 17.93}, {'connected_gene': 'EPM2AIP1', 'score': 9.63}, {'connected_gene': 'LRRFIP2', 'score': 0.77}, {'connected_gene': 'ENSG00000271993', 'score': 0.77}, {'connected_gene': 'GC03P037179', 'score': 0.77}, {'connected_gene': 'GC03P036930', 'score': 0.07}]
chr3	GH03I037082	37082390	37082539	0.67	[{'connected_gene': 'RPS16P4', 'score': 11.55}, {'connected_gene': 'LRRFIP2', 'score': 11.17}, {'connected_gene': 'MLH1', 'score': 10.9}, {'connected_gene': 'EPM2AIP1', 'score': 10.9}, {'connected_gene': 'ENSG00000206645', 'score': 0.39}, {'connected_gene': 'GC03M037070', 'score': 0.39}, {'connected_gene': 'GC03M037093', 'score': 0.39}, {'connected_gene': 'GC03P036930', 'score': 0.1}]
chr3	GH03I036968	36968732	36971058	1.39	[{'connected_gene': 'RNU6ATAC4P', 'score': 550.77}, {'connected_gene': 'GC03M036968', 'score': 550.77}, {'connected_gene': 'GC03M036969', 'score': 550.77}, {'connected_gene': 'LRRFIP2', 'score': 60.48}, {'connected_gene': 'EPM2AIP1', 'score': 14.63}, {'connected_gene': 'MLH1', 'score': 13.73}, {'connected_gene': 'TRANK1', 'score': 12.32}, {'connected_gene': 'GOLGA4', 'score': 2.18}, {'connected_gene': 'ITGA9', 'score': 1.18}, {'connected_gene': 'ENSG00000272334', 'score': 0.77}, {'connected_gene': 'GC03P036930', 'score': 0.28}]
chr3	GH03I036900	36900374	36902161	0.97	[{'connected_gene': 'GC03M036882', 'score': 550.77}, {'connected_gene': 'TRANK1', 'score': 13.66}, {'connected_gene': 'RNU6ATAC4P', 'score': 11.69}, {'connected_gene': 'MLH1', 'score': 11.07}, {'connected_gene': 'EPM2AIP1', 'score': 11.07}, {'connected_gene': 'ENSG00000234073', 'score': 8.98}, {'connected_gene': 'GOLGA4', 'score': 1.84}, {'connected_gene': 'GC03P036930', 'score': 0.31}]