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
ENST00000505624	[[34839268, 34839364], [34840769, 34840844], [34845591, 34845778], [34850289, 34850413], [34863002, 34863159], [34864541, 34864667], [34866996, 34867174], [34869009, 34869118], [34880285, 34880413], [34896874, 34896980], [34899494, 34899561]]	[[34840776, 34840844], [34845591, 34845778], [34850289, 34850413], [34863002, 34863159], [34864541, 34864667], [34866996, 34867174], [34869009, 34869118], [34880285, 34880413], [34896874, 34896883]]
ENST00000508722	[[34839270, 34839364], [34840769, 34840844], [34863002, 34863159], [34864541, 34864667], [34866996, 34869954]]	[[34840776, 34840844], [34863002, 34863084]]
ENST00000514080	[[34839327, 34839468], [34840769, 34840844], [34845591, 34845778], [34850289, 34850413], [34863002, 34863159], [34864541, 34864667], [34866996, 34867174], [34869009, 34869118], [34880285, 34880413]]	None
ENST00000502674	[[34840776, 34840844], [34845591, 34845778], [34850289, 34850413], [34863002, 34863159], [34864541, 34864667], [34866996, 34867174], [34880285, 34880413], [34896874, 34896883]]	[[34840776, 34840844], [34845591, 34845778], [34850289, 34850413], [34863002, 34863159], [34864541, 34864667], [34866996, 34867174], [34880285, 34880309]]
ENST00000502782	[[34838937, 34839053], [34840769, 34840844], [34845591, 34845778], [34863002, 34863115]]	None
ENST00000506758	[[34839268, 34839301], [34840769, 34840844], [34845591, 34845778], [34850289, 34850413], [34863002, 34863128]]	None
ENST00000508377	[[34839318, 34839364], [34840769, 34840844], [34845591, 34845818]]	None
NM_144725	[[34839268, 34839364], [34840769, 34840844], [34845591, 34845778], [34850289, 34850413], [34863002, 34863159], [34864541, 34864667], [34866996, 34867174], [34869009, 34869118], [34880285, 34880413], [34896874, 34896980], [34899494, 34899567]]	[[34840776, 34840844], [34845591, 34845778], [34850289, 34850413], [34863002, 34863159], [34864541, 34864667], [34866996, 34867174], [34869009, 34869118], [34880285, 34880413], [34896874, 34896883]]
NM_001317949	[[34839728, 34839759], [34840769, 34840844], [34845591, 34845778], [34850289, 34850413], [34863002, 34863159], [34864541, 34864667], [34866996, 34867174], [34869009, 34869118], [34880285, 34880413], [34896874, 34896980], [34899494, 34900616]]	[[34839739, 34839759], [34840769, 34840844], [34845591, 34845778], [34850289, 34850413], [34863002, 34863159], [34864541, 34864667], [34866996, 34867174], [34869009, 34869118], [34880285, 34880413], [34896874, 34896883]]

Promoter

Chrom	Start	End	Description
chr5	34839260	34839339	CAGE_peak_1_at_TTC23L_5end
chr5	34839468	34839506	CAGE_peak_2_at_TTC23L_5end
chr5	34839518	34839530	CAGE_peak_3_at_TTC23L_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr5	GH05I034698	34698375	34701006	1.18	[{'connected_gene': 'LOC643373', 'score': 11.72}, {'connected_gene': 'RAI14', 'score': 11.01}, {'connected_gene': 'ENSG00000250234', 'score': 11.01}, {'connected_gene': 'TTC23L', 'score': 10.21}, {'connected_gene': 'GC05P034707', 'score': 0.44}]
chr5	GH05I034708	34708424	34712126	1.17	[{'connected_gene': 'BRIX1', 'score': 11.7}, {'connected_gene': 'LOC643373', 'score': 11.05}, {'connected_gene': 'TTC23L', 'score': 5.26}, {'connected_gene': 'RAI14', 'score': 1.76}, {'connected_gene': 'GC05P034707', 'score': 0.77}, {'connected_gene': 'PIR47065', 'score': 0.34}]
chr5	GH05I034596	34596889	34600379	1.32	[{'connected_gene': 'BRIX1', 'score': 15.27}, {'connected_gene': 'LOC643373', 'score': 13.06}, {'connected_gene': 'TTC23L', 'score': 9.95}, {'connected_gene': 'LOC105374721', 'score': 0.39}, {'connected_gene': 'RAI14', 'score': 0.22}]
chr5	GH05I034913	34913676	34918084	2.1	[{'connected_gene': 'BRIX1', 'score': 550.77}, {'connected_gene': 'RAD1', 'score': 550.77}, {'connected_gene': 'DNAJC21', 'score': 18.7}, {'connected_gene': 'TTC23L', 'score': 9.85}, {'connected_gene': 'GC05P034888', 'score': 0.31}]
chr5	GH05I034576	34576824	34578054	0.84	[{'connected_gene': 'BRIX1', 'score': 11.3}, {'connected_gene': 'RAI14', 'score': 10.42}, {'connected_gene': 'ENSG00000250234', 'score': 10.42}, {'connected_gene': 'TTC23L', 'score': 9.74}, {'connected_gene': 'LOC105374721', 'score': 0.44}, {'connected_gene': 'GC05P034404', 'score': 0.09}]
chr5	GH05I034682	34682267	34689457	1.91	[{'connected_gene': 'RAI14', 'score': 567.44}, {'connected_gene': 'BRIX1', 'score': 21.73}, {'connected_gene': 'LOC643373', 'score': 19.69}, {'connected_gene': 'ENSG00000250234', 'score': 11.9}, {'connected_gene': 'TTC23L', 'score': 10.26}, {'connected_gene': 'GC05P034707', 'score': 0.34}]
chr5	GH05I034583	34583218	34584000	0.8	[{'connected_gene': 'RAI14', 'score': 11.03}, {'connected_gene': 'ENSG00000250234', 'score': 11.03}, {'connected_gene': 'TTC23L', 'score': 10.32}, {'connected_gene': 'LOC105374721', 'score': 0.77}, {'connected_gene': 'GC05P034404', 'score': 0.1}]
chr5	GH05I034835	34835494	34835588	0.22	[{'connected_gene': 'RAI14', 'score': 10.26}, {'connected_gene': 'ENSG00000250234', 'score': 10.26}, {'connected_gene': 'TTC23L', 'score': 0.77}, {'connected_gene': 'PIR38639', 'score': 0.44}, {'connected_gene': 'GC05P034807', 'score': 0.31}]
chr5	GH05I034663	34663477	34664527	0.2	[{'connected_gene': 'RAI14', 'score': 11.78}, {'connected_gene': 'TTC23L', 'score': 10.31}, {'connected_gene': 'ENSG00000250234', 'score': 0.44}, {'connected_gene': 'GC05P034707', 'score': 0.26}]
chr5	GH05I034751	34751693	34752722	0.43	[{'connected_gene': 'RAI14', 'score': 15.19}, {'connected_gene': 'TTC23L', 'score': 10.92}, {'connected_gene': 'ENSG00000250234', 'score': 10.48}, {'connected_gene': 'GC05M034738', 'score': 0.44}, {'connected_gene': 'GC05M034755', 'score': 0.39}]
chr5	GH05I034834	34834316	34834525	0.2	[{'connected_gene': 'RAI14', 'score': 10.26}, {'connected_gene': 'ENSG00000250234', 'score': 10.26}, {'connected_gene': 'TTC23L', 'score': 5.99}, {'connected_gene': 'PIR38639', 'score': 0.44}, {'connected_gene': 'GC05P034807', 'score': 0.31}]
chr5	GH05I034703	34703712	34704594	0.51	[{'connected_gene': 'RAI14', 'score': 10.88}, {'connected_gene': 'ENSG00000250234', 'score': 10.88}, {'connected_gene': 'TTC23L', 'score': 4.46}, {'connected_gene': 'GC05P034707', 'score': 0.77}]
chr5	GH05I034006	34006415	34010897	2.54	[{'connected_gene': 'AMACR', 'score': 653.55}, {'connected_gene': 'ENSG00000249572', 'score': 12.53}, {'connected_gene': 'BRIX1', 'score': 11.8}, {'connected_gene': 'TTC23L', 'score': 10.75}, {'connected_gene': 'LOC643373', 'score': 10.41}, {'connected_gene': 'DNAJC21', 'score': 9.76}, {'connected_gene': 'C1QTNF3', 'score': 2.72}, {'connected_gene': 'C1QTNF3-AMACR', 'score': 0.13}]
chr5	GH05I034672	34672494	34675790	1.05	[{'connected_gene': 'TTC23L', 'score': 10.31}, {'connected_gene': 'PRLR', 'score': 4.32}, {'connected_gene': 'RAI14', 'score': 0.37}, {'connected_gene': 'ENSG00000250234', 'score': 0.37}, {'connected_gene': 'GC05P034707', 'score': 0.29}]
chr5	GH05I034714	34714729	34719926	1.34	[{'connected_gene': 'TTC23L', 'score': 16.32}, {'connected_gene': 'BRIX1', 'score': 13.27}, {'connected_gene': 'RAI14', 'score': 12.37}, {'connected_gene': 'LOC643373', 'score': 11.76}, {'connected_gene': 'ENSG00000250234', 'score': 10.93}, {'connected_gene': 'GC05P034707', 'score': 0.44}, {'connected_gene': 'PIR47065', 'score': 0.37}]
chr5	GH05I034720	34720797	34722095	0.8	[{'connected_gene': 'TTC23L', 'score': 15.66}, {'connected_gene': 'ENSG00000250234', 'score': 10.93}, {'connected_gene': 'RAI14', 'score': 10.92}, {'connected_gene': 'GC05P034707', 'score': 0.39}, {'connected_gene': 'PIR47065', 'score': 0.39}]
chr5	GH05I034748	34748883	34750617	0.4	[{'connected_gene': 'TTC23L', 'score': 10.92}, {'connected_gene': 'RAI14', 'score': 10.48}, {'connected_gene': 'ENSG00000250234', 'score': 10.48}, {'connected_gene': 'GC05M034738', 'score': 0.77}, {'connected_gene': 'GC05M034755', 'score': 0.37}]
chr5	GH05I034665	34665110	34667261	0.46	[{'connected_gene': 'TTC23L', 'score': 10.31}, {'connected_gene': 'RAI14', 'score': 8.17}, {'connected_gene': 'ENSG00000250234', 'score': 0.44}, {'connected_gene': 'GC05P034707', 'score': 0.26}]
chr5	GH05I034667	34667461	34668296	0.2	[{'connected_gene': 'TTC23L', 'score': 10.31}, {'connected_gene': 'RAI14', 'score': 0.39}, {'connected_gene': 'ENSG00000250234', 'score': 0.39}, {'connected_gene': 'GC05P034707', 'score': 0.26}]
chr5	GH05I034668	34668987	34671679	0.54	[{'connected_gene': 'TTC23L', 'score': 10.32}, {'connected_gene': 'RAI14', 'score': 4.78}, {'connected_gene': 'ENSG00000250234', 'score': 0.39}, {'connected_gene': 'GC05P034707', 'score': 0.28}]
chr5	GH05I034841	34841700	34843547	0.69	[{'connected_gene': 'TTC23L', 'score': 0.77}, {'connected_gene': 'LOC101929704', 'score': 0.77}, {'connected_gene': 'ENSG00000250140', 'score': 0.37}, {'connected_gene': 'GC05P034807', 'score': 0.29}]
chr5	GH05I034877	34877052	34877381	0.26	[{'connected_gene': 'TTC23L', 'score': 11.46}, {'connected_gene': 'RPL21P54', 'score': 0.44}, {'connected_gene': 'ENSG00000250140', 'score': 0.37}]
chr5	GH05I034863	34863106	34865128	0.38	[{'connected_gene': 'DNAJC21', 'score': 6.77}, {'connected_gene': 'TTC23L', 'score': 4.68}, {'connected_gene': 'ENSG00000250140', 'score': 0.77}, {'connected_gene': 'RPL21P54', 'score': 0.37}]
chr5	GH05I034866	34866628	34868044	0.93	[{'connected_gene': 'DNAJC21', 'score': 6.55}, {'connected_gene': 'ENSG00000250140', 'score': 0.44}, {'connected_gene': 'RPL21P54', 'score': 0.37}, {'connected_gene': 'TTC23L', 'score': 0.31}]
chr5	GH05I034865	34865276	34865425	0.2	[{'connected_gene': 'DNAJC21', 'score': 6.59}, {'connected_gene': 'ENSG00000250140', 'score': 0.77}, {'connected_gene': 'RPL21P54', 'score': 0.37}, {'connected_gene': 'TTC23L', 'score': 0.31}]
chr5	GH05I034585	34585102	34589007	1.78	[{'connected_gene': 'LOC105374721', 'score': 550.77}, {'connected_gene': 'BRIX1', 'score': 14.9}, {'connected_gene': 'RAI14', 'score': 12.45}, {'connected_gene': 'ENSG00000250234', 'score': 11.03}, {'connected_gene': 'TTC23L', 'score': 10.32}, {'connected_gene': 'LOC643373', 'score': 9.83}]
chr5	GH05I034838	34838218	34839871	2.05	[{'connected_gene': 'LOC101929704', 'score': 556.78}, {'connected_gene': 'TTC23L', 'score': 556.0}, {'connected_gene': 'RAI14', 'score': 4.16}, {'connected_gene': 'GC05P034807', 'score': 0.29}]
chr5	GH05I034705	34705462	34708139	1.07	[{'connected_gene': 'GC05P034707', 'score': 550.77}, {'connected_gene': 'ENSG00000250234', 'score': 10.88}, {'connected_gene': 'RAI14', 'score': 10.87}, {'connected_gene': 'TTC23L', 'score': 5.24}]
chr5	GH05I034889	34889536	34889685	0.74	[{'connected_gene': 'GC05P034888', 'score': 550.77}, {'connected_gene': 'RAI14', 'score': 10.73}, {'connected_gene': 'ENSG00000250234', 'score': 10.73}, {'connected_gene': 'PIR35041', 'score': 0.39}, {'connected_gene': 'TTC23L', 'score': 0.23}]
chr5	GH05I034891	34891692	34892462	0.38	[{'connected_gene': 'ENSG00000250234', 'score': 10.73}, {'connected_gene': 'RAI14', 'score': 10.73}, {'connected_gene': 'DNAJC21', 'score': 5.57}, {'connected_gene': 'GC05P034888', 'score': 0.77}, {'connected_gene': 'PIR35041', 'score': 0.39}, {'connected_gene': 'TTC23L', 'score': 0.23}]
chr5	GH05I034856	34856234	34856322	0.24	[{'connected_gene': 'ENSG00000250140', 'score': 0.44}, {'connected_gene': 'TTC23L', 'score': 0.37}, {'connected_gene': 'LOC101929704', 'score': 0.37}]
chr5	GH05I034898	34898376	34898545	0.65	[{'connected_gene': 'PIR35041', 'score': 0.77}, {'connected_gene': 'GC05P034888', 'score': 0.39}, {'connected_gene': 'TTC23L', 'score': 0.22}]