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
ENST00000407228	[[52471916, 52473880], [52478187, 52478268], [52479905, 52480133], [52484188, 52484458], [52497845, 52498097], [52502420, 52502486], [52553317, 52553491], [52581625, 52581714]]	[[52473136, 52473880], [52478187, 52478268], [52479905, 52480133], [52484188, 52484458], [52497845, 52498097], [52502420, 52502486], [52553317, 52553392]]
ENST00000219746	[[52471919, 52473880], [52478187, 52478268], [52479905, 52480133], [52484188, 52484458], [52497845, 52498100], [52502420, 52502486], [52580548, 52580920]]	[[52473136, 52473880], [52478187, 52478268], [52479905, 52480133], [52484188, 52484458], [52497845, 52498100], [52502420, 52502486], [52580548, 52580635]]
ENST00000563091	[[52484259, 52484458], [52497845, 52498100], [52502420, 52502486], [52581279, 52581331]]	[[52484259, 52484458], [52497845, 52498100], [52502420, 52502465]]
ENST00000568436	[[52497929, 52498097], [52502420, 52502486], [52509442, 52509552], [52580548, 52580752]]	[[52509456, 52509552], [52580548, 52580635]]
ENST00000566696	[[52471917, 52473880], [52478187, 52479638]]	None
NM_001080430	[[52470327, 52473880], [52478187, 52478268], [52479905, 52480133], [52484188, 52484458], [52497845, 52498100], [52502420, 52502486], [52580548, 52580806]]	[[52473136, 52473880], [52478187, 52478268], [52479905, 52480133], [52484188, 52484458], [52497845, 52498100], [52502420, 52502486], [52580548, 52580635]]
NM_001146188	[[52470327, 52473880], [52478187, 52478268], [52479905, 52480133], [52484188, 52484458], [52497845, 52498097], [52502420, 52502486], [52553317, 52553491], [52581625, 52581714]]	[[52473136, 52473880], [52478187, 52478268], [52479905, 52480133], [52484188, 52484458], [52497845, 52498097], [52502420, 52502486], [52553317, 52553392]]

Promoter

Chrom	Start	End	Description
chr16	52580805	52580840	CAGE_peak_3_at_TOX3_5end
chr16	52580953	52580992	CAGE_peak_2_at_TOX3_5end
chr16	52581025	52581072	CAGE_peak_1_at_TOX3_5end
chr16	52581957	52581960	CAGE_peak_8_at_TOX3_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr16	GH16I052572	52572243	52575108	1.12	[{'connected_gene': 'CHD9', 'score': 16.34}, {'connected_gene': 'HNRNPA1P48', 'score': 12.25}, {'connected_gene': 'TOX3', 'score': 12.12}, {'connected_gene': 'LOC105371265', 'score': 0.44}, {'connected_gene': 'CASC16', 'score': 0.18}]
chr16	GH16I052561	52561512	52563459	1.03	[{'connected_gene': 'TOX3', 'score': 0.39}, {'connected_gene': 'LOC105371265', 'score': 0.37}, {'connected_gene': 'CASC16', 'score': 0.17}]
chr16	GH16I052556	52556903	52558038	0.38	[{'connected_gene': 'TOX3', 'score': 0.44}, {'connected_gene': 'LOC105371265', 'score': 0.34}, {'connected_gene': 'CASC16', 'score': 0.16}]
chr16	GH16I052564	52564105	52566293	1.09	[{'connected_gene': 'TOX3', 'score': 0.37}, {'connected_gene': 'LOC105371265', 'score': 0.37}, {'connected_gene': 'CASC16', 'score': 0.17}]
chr16	GH16I052558	52558323	52558944	0.46	[{'connected_gene': 'TOX3', 'score': 0.39}, {'connected_gene': 'LOC105371265', 'score': 0.34}, {'connected_gene': 'CASC16', 'score': 0.16}]
chr16	GH16I052559	52559790	52560312	0.2	[{'connected_gene': 'TOX3', 'score': 0.39}, {'connected_gene': 'LOC105371265', 'score': 0.34}, {'connected_gene': 'CASC16', 'score': 0.16}]
chr16	GH16I052560	52559269	52559378	0.38	[{'connected_gene': 'TOX3', 'score': 0.39}, {'connected_gene': 'LOC105371265', 'score': 0.34}, {'connected_gene': 'CASC16', 'score': 0.16}]
chr16	GH16I052549	52549009	52549218	0.59	[{'connected_gene': 'TOX3', 'score': 550.77}, {'connected_gene': 'LOC105371265', 'score': 0.29}]
chr16	GH16I052407	52407241	52408920	0.91	[{'connected_gene': 'TOX3', 'score': 6.12}, {'connected_gene': 'LOC105371262', 'score': 0.44}, {'connected_gene': 'CASC22', 'score': 0.11}]
chr16	GH16I052517	52517685	52518923	0.6	[{'connected_gene': 'TOX3', 'score': 0.31}, {'connected_gene': 'ENSG00000279427', 'score': 0.18}]
chr16	GH16I052498	52498603	52499300	0.4	[{'connected_gene': 'TOX3', 'score': 0.25}, {'connected_gene': 'ENSG00000279427', 'score': 0.21}]
chr16	GH16I052537	52537526	52537893	0.2	[{'connected_gene': 'TOX3', 'score': 0.39}, {'connected_gene': 'ENSG00000279427', 'score': 0.15}]
chr16	GH16I052531	52529149	52529298	0.58	[{'connected_gene': 'TOX3', 'score': 0.37}, {'connected_gene': 'ENSG00000279427', 'score': 0.16}]
chr16	GH16I052469	52469922	52471014	0.52	[{'connected_gene': 'TOX3', 'score': 14.28}, {'connected_gene': 'ENSG00000279427', 'score': 0.29}]
chr16	GH16I052528	52528129	52529085	0.58	[{'connected_gene': 'TOX3', 'score': 0.37}, {'connected_gene': 'ENSG00000279427', 'score': 0.16}]
chr16	GH16I052526	52526175	52527126	0.31	[{'connected_gene': 'TOX3', 'score': 12.07}, {'connected_gene': 'ENSG00000279427', 'score': 0.17}]
chr16	GH16I052497	52496289	52496438	1.03	[{'connected_gene': 'TOX3', 'score': 0.23}, {'connected_gene': 'ENSG00000279427', 'score': 0.22}]
chr16	GH16I052455	52455742	52457098	0.81	[{'connected_gene': 'TOX3', 'score': 6.33}, {'connected_gene': 'ENSG00000279427', 'score': 0.37}]
chr16	GH16I052492	52492469	52494403	1.35	[{'connected_gene': 'TOX3', 'score': 7.06}, {'connected_gene': 'ENSG00000279427', 'score': 0.22}]
chr16	GH16I052529	52529453	52530244	0.2	[{'connected_gene': 'TOX3', 'score': 0.37}, {'connected_gene': 'ENSG00000279427', 'score': 0.16}]
chr16	GH16I052523	52523494	52524873	0.2	[{'connected_gene': 'TOX3', 'score': 12.07}, {'connected_gene': 'ENSG00000279427', 'score': 0.17}]
chr16	GH16I052530	52530328	52530675	0.37	[{'connected_gene': 'TOX3', 'score': 1.75}, {'connected_gene': 'ENSG00000279427', 'score': 0.16}]
chr16	GH16I052512	52512231	52513311	0.65	[{'connected_gene': 'TOX3', 'score': 0.28}, {'connected_gene': 'ENSG00000279427', 'score': 0.18}]
chr16	GH16I052496	52496509	52498059	1.77	[{'connected_gene': 'TOX3', 'score': 0.23}, {'connected_gene': 'ENSG00000279427', 'score': 0.22}]
chr16	GH16I052544	52544618	52548880	2.08	[{'connected_gene': 'TOX3', 'score': 550.77}, {'connected_gene': 'ENSG00000279427', 'score': 0.14}]
chr16	GH16I052452	52452149	52452218	0.78	[{'connected_gene': 'TOX3', 'score': 6.44}, {'connected_gene': 'ENSG00000279427', 'score': 0.39}]
chr16	GH16I052567	52567010	52567625	0.2	[{'connected_gene': 'LOC105371265', 'score': 0.39}, {'connected_gene': 'TOX3', 'score': 0.37}, {'connected_gene': 'CASC16', 'score': 0.18}]
chr16	GH16I052568	52567773	52568398	0.2	[{'connected_gene': 'LOC105371265', 'score': 0.39}, {'connected_gene': 'TOX3', 'score': 0.34}, {'connected_gene': 'CASC16', 'score': 0.18}]
chr16	GH16I052577	52577682	52579517	1.5	[{'connected_gene': 'LOC105371265', 'score': 0.77}, {'connected_gene': 'TOX3', 'score': 0.29}, {'connected_gene': 'CASC16', 'score': 0.19}]
chr16	GH16I052575	52575112	52575248	0.4	[{'connected_gene': 'LOC105371265', 'score': 0.44}, {'connected_gene': 'TOX3', 'score': 0.31}, {'connected_gene': 'CASC16', 'score': 0.18}]
chr16	GH16I052488	52488869	52489038	0.91	[{'connected_gene': 'ENSG00000279427', 'score': 0.23}, {'connected_gene': 'TOX3', 'score': 0.22}]
chr16	GH16I052466	52466033	52466265	0.4	[{'connected_gene': 'ENSG00000279427', 'score': 0.31}, {'connected_gene': 'TOX3', 'score': 0.18}]
chr16	GH16I052467	52467060	52467259	0.51	[{'connected_gene': 'ENSG00000279427', 'score': 0.31}, {'connected_gene': 'TOX3', 'score': 0.18}]
chr16	GH16I052460	52460345	52460712	0.4	[{'connected_gene': 'ENSG00000279427', 'score': 0.34}, {'connected_gene': 'TOX3', 'score': 0.17}]
chr16	GH16I052461	52460735	52461101	0.58	[{'connected_gene': 'ENSG00000279427', 'score': 0.34}, {'connected_gene': 'TOX3', 'score': 0.17}]
chr16	GH16I052434	52434617	52437850	0.77	[{'connected_gene': 'ENSG00000279427', 'score': 550.77}, {'connected_gene': 'LOC105371262', 'score': 0.37}, {'connected_gene': 'TOX3', 'score': 0.14}]