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
ENST00000252244	[[53068519, 53069401], [53069493, 53069528], [53070058, 53070279], [53070842, 53070968], [53071099, 53071264], [53071433, 53071529], [53071946, 53072007], [53072325, 53072540], [53073541, 53074191]]	[[53068976, 53069401], [53069493, 53069528], [53070058, 53070279], [53070842, 53070968], [53071099, 53071264], [53071433, 53071529], [53071946, 53072007], [53072325, 53072540], [53073541, 53074132]]
ENST00000548765	[[53069506, 53069528], [53070058, 53070279], [53070842, 53070968], [53071099, 53071301]]	None
NM_006121	[[53068519, 53069401], [53069493, 53069528], [53070058, 53070279], [53070842, 53070968], [53071099, 53071264], [53071433, 53071529], [53071946, 53072007], [53072325, 53072540], [53073541, 53074191]]	[[53068976, 53069401], [53069493, 53069528], [53070058, 53070279], [53070842, 53070968], [53071099, 53071264], [53071433, 53071529], [53071946, 53072007], [53072325, 53072540], [53073541, 53074132]]

Promoter

Chrom	Start	End	Description
chr12	53071270	53071311	CAGE_peak_2_at_KRT1_5end
chr12	53074182	53074197	CAGE_peak_1_at_KRT1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr12	GH12I052515	52515331	52526757	1.77	[{'connected_gene': 'KRT5', 'score': 568.84}, {'connected_gene': 'GC12M052518', 'score': 550.77}, {'connected_gene': 'KRT6A', 'score': 17.52}, {'connected_gene': 'KRT6C', 'score': 11.83}, {'connected_gene': 'KRT71', 'score': 11.19}, {'connected_gene': 'KRT74', 'score': 10.6}, {'connected_gene': 'KRT84', 'score': 9.95}, {'connected_gene': 'KRT2', 'score': 9.93}, {'connected_gene': 'KRT4', 'score': 9.72}, {'connected_gene': 'KRT82', 'score': 9.69}, {'connected_gene': 'KRT83', 'score': 9.27}, {'connected_gene': 'KRT78', 'score': 9.22}, {'connected_gene': 'ENSG00000259884', 'score': 5.2}, {'connected_gene': 'KRT6B', 'score': 4.2}, {'connected_gene': 'KRT1', 'score': 4.16}, {'connected_gene': 'KRT76', 'score': 3.68}, {'connected_gene': 'ATG101', 'score': 2.28}, {'connected_gene': 'KRT75', 'score': 1.53}, {'connected_gene': 'GC12P052543', 'score': 0.34}]
chr12	GH12I052869	52869799	52876851	1.78	[{'connected_gene': 'KRT2', 'score': 20.63}, {'connected_gene': 'PCBP2', 'score': 19.35}, {'connected_gene': 'EIF4B', 'score': 15.65}, {'connected_gene': 'AAAS', 'score': 15.53}, {'connected_gene': 'SP1', 'score': 14.86}, {'connected_gene': 'ZNF740', 'score': 14.44}, {'connected_gene': 'ATF7', 'score': 12.74}, {'connected_gene': 'KRT84', 'score': 12.12}, {'connected_gene': 'LOC100652999', 'score': 12.05}, {'connected_gene': 'PFDN5', 'score': 10.79}, {'connected_gene': 'CALCOCO1', 'score': 10.75}, {'connected_gene': 'KRT79', 'score': 10.51}, {'connected_gene': 'ENSG00000257808', 'score': 9.79}, {'connected_gene': 'KRT4', 'score': 7.83}, {'connected_gene': 'KRT8', 'score': 7.29}, {'connected_gene': 'KRT18', 'score': 6.57}, {'connected_gene': 'KRT78', 'score': 6.4}, {'connected_gene': 'KRT3', 'score': 5.12}, {'connected_gene': 'KRT6C', 'score': 3.8}, {'connected_gene': 'KRT76', 'score': 3.79}, {'connected_gene': 'KRT1', 'score': 3.04}, {'connected_gene': 'RARG', 'score': 2.73}, {'connected_gene': 'KRT6A', 'score': 1.41}, {'connected_gene': 'KRT5', 'score': 1.26}, {'connected_gene': 'RPL7P41', 'score': 0.39}]
chr12	GH12I052652	52652201	52652260	0.61	[{'connected_gene': 'KRT2', 'score': 550.77}, {'connected_gene': 'KRT1', 'score': 0.31}, {'connected_gene': 'GC12P052549', 'score': 0.15}]
chr12	GH12I052867	52867022	52868458	1.09	[{'connected_gene': 'KRT2', 'score': 43.31}, {'connected_gene': 'KRT74', 'score': 11.13}, {'connected_gene': 'KRT79', 'score': 10.87}, {'connected_gene': 'KRT4', 'score': 10.59}, {'connected_gene': 'KRT84', 'score': 10.37}, {'connected_gene': 'KRT8', 'score': 7.39}, {'connected_gene': 'KRT1', 'score': 2.0}, {'connected_gene': 'KRT77', 'score': 1.3}, {'connected_gene': 'RPL7P41', 'score': 0.37}, {'connected_gene': 'KRT78', 'score': 0.37}]
chr12	GH12I052672	52672723	52673749	0.56	[{'connected_gene': 'KRT1', 'score': 6.31}, {'connected_gene': 'AAAS', 'score': 4.9}, {'connected_gene': 'KRT2', 'score': 0.34}]
chr12	GH12I052680	52680833	52682521	0.2	[{'connected_gene': 'KRT1', 'score': 565.49}, {'connected_gene': 'AAAS', 'score': 4.89}, {'connected_gene': 'ENSG00000257700', 'score': 0.39}]
chr12	GH12I052566	52566380	52568150	0.52	[{'connected_gene': 'KRT1', 'score': 10.89}, {'connected_gene': 'KRT5', 'score': 10.09}, {'connected_gene': 'KRT79', 'score': 9.83}, {'connected_gene': 'KRT78', 'score': 9.73}, {'connected_gene': 'KRT4', 'score': 9.49}, {'connected_gene': 'KRT72', 'score': 8.4}, {'connected_gene': 'KRT73', 'score': 4.76}, {'connected_gene': 'KRT74', 'score': 0.44}, {'connected_gene': 'KRT71', 'score': 0.39}, {'connected_gene': 'GC12P052549', 'score': 0.37}]
chr12	GH12I052675	52675422	52676172	0.38	[{'connected_gene': 'KRT1', 'score': 6.6}, {'connected_gene': 'KRT2', 'score': 0.34}]
chr12	GH12I052644	52644399	52647459	1.14	[{'connected_gene': 'KRT1', 'score': 11.3}, {'connected_gene': 'KRT77', 'score': 11.16}, {'connected_gene': 'KRT79', 'score': 10.31}, {'connected_gene': 'KRT76', 'score': 10.26}, {'connected_gene': 'KRT4', 'score': 10.26}, {'connected_gene': 'KRT84', 'score': 9.18}, {'connected_gene': 'ENSG00000257700', 'score': 7.47}, {'connected_gene': 'KRT2', 'score': 0.44}, {'connected_gene': 'KRT128P', 'score': 0.39}, {'connected_gene': 'GC12P052549', 'score': 0.15}]
chr12	GH12I052583	52583337	52583459	0.69	[{'connected_gene': 'KRT1', 'score': 11.49}, {'connected_gene': 'KRT78', 'score': 10.38}, {'connected_gene': 'KRT84', 'score': 10.2}, {'connected_gene': 'KRT2', 'score': 10.12}, {'connected_gene': 'KRT73', 'score': 6.87}, {'connected_gene': 'KRT74', 'score': 0.44}, {'connected_gene': 'KRT73-AS1', 'score': 0.37}, {'connected_gene': 'GC12P052549', 'score': 0.29}]
chr12	GH12I052586	52586117	52586266	0.43	[{'connected_gene': 'KRT1', 'score': 11.5}, {'connected_gene': 'KRT78', 'score': 10.38}, {'connected_gene': 'KRT84', 'score': 10.2}, {'connected_gene': 'KRT2', 'score': 10.12}, {'connected_gene': 'KRT74', 'score': 0.39}, {'connected_gene': 'KRT72', 'score': 0.37}, {'connected_gene': 'KRT73-AS1', 'score': 0.37}, {'connected_gene': 'GC12P052549', 'score': 0.28}]
chr12	GH12I052648	52648599	52648646	0.51	[{'connected_gene': 'KRT1', 'score': 10.93}, {'connected_gene': 'KRT78', 'score': 9.59}, {'connected_gene': 'KRT2', 'score': 0.77}, {'connected_gene': 'KRT128P', 'score': 0.39}, {'connected_gene': 'GC12P052549', 'score': 0.15}]
chr12	GH12I052681	52680383	52680442	0.61	[{'connected_gene': 'KRT1', 'score': 550.77}, {'connected_gene': 'ENSG00000257700', 'score': 0.39}]
chr12	GH12I052859	52859506	52861333	1.33	[{'connected_gene': 'KRT79', 'score': 11.14}, {'connected_gene': 'KRT4', 'score': 10.85}, {'connected_gene': 'KRT76', 'score': 10.38}, {'connected_gene': 'KRT1', 'score': 10.36}, {'connected_gene': 'KRT2', 'score': 9.84}, {'connected_gene': 'KRT83', 'score': 9.51}, {'connected_gene': 'KRT71', 'score': 9.36}, {'connected_gene': 'KRT6A', 'score': 2.04}, {'connected_gene': 'RARG', 'score': 1.81}, {'connected_gene': 'KRT5', 'score': 1.47}, {'connected_gene': 'KRT78', 'score': 0.39}, {'connected_gene': 'RPL7P41', 'score': 0.31}]
chr12	GH12I052579	52579604	52583286	1.02	[{'connected_gene': 'KRT72', 'score': 34.39}, {'connected_gene': 'KRT1', 'score': 11.49}, {'connected_gene': 'KRT71', 'score': 10.96}, {'connected_gene': 'KRT78', 'score': 10.38}, {'connected_gene': 'KRT79', 'score': 10.37}, {'connected_gene': 'KRT2', 'score': 10.26}, {'connected_gene': 'KRT84', 'score': 10.2}, {'connected_gene': 'KRT4', 'score': 10.0}, {'connected_gene': 'KRT6C', 'score': 9.87}, {'connected_gene': 'KRT76', 'score': 9.5}, {'connected_gene': 'KRT83', 'score': 9.1}, {'connected_gene': 'KRT73', 'score': 6.82}, {'connected_gene': 'KRT74', 'score': 0.44}, {'connected_gene': 'KRT73-AS1', 'score': 0.34}, {'connected_gene': 'GC12P052549', 'score': 0.29}]
chr12	GH12I052673	52673992	52675370	0.49	[{'connected_gene': 'ENSG00000257700', 'score': 18.19}, {'connected_gene': 'AAAS', 'score': 4.99}, {'connected_gene': 'KRT1', 'score': 0.44}, {'connected_gene': 'KRT2', 'score': 0.34}]
chr12	GH12I052661	52661974	52663138	1.4	[{'connected_gene': 'ENSG00000257700', 'score': 10.01}, {'connected_gene': 'KRT2', 'score': 0.39}, {'connected_gene': 'KRT1', 'score': 0.37}]
chr12	GH12I052655	52655642	52656456	0.54	[{'connected_gene': 'ENSG00000257700', 'score': 9.89}, {'connected_gene': 'KRT2', 'score': 0.77}, {'connected_gene': 'KRT1', 'score': 0.34}]
chr12	GH12I052656	52656740	52657846	0.63	[{'connected_gene': 'ENSG00000257700', 'score': 10.48}, {'connected_gene': 'KRT2', 'score': 0.44}, {'connected_gene': 'KRT1', 'score': 0.34}]
chr12	GH12I052614	52614969	52616201	0.58	[{'connected_gene': 'GC12P052616', 'score': 550.77}, {'connected_gene': 'KRT1', 'score': 10.88}, {'connected_gene': 'KRT2', 'score': 10.57}, {'connected_gene': 'KRT71', 'score': 9.95}, {'connected_gene': 'KRT78', 'score': 9.91}, {'connected_gene': 'KRT84', 'score': 9.67}, {'connected_gene': 'KRT73', 'score': 0.77}, {'connected_gene': 'KRT72', 'score': 0.39}, {'connected_gene': 'KRT73-AS1', 'score': 0.39}, {'connected_gene': 'GC12P052549', 'score': 0.2}]
chr12	GH12I052676	52676550	52677567	0.2	[{'connected_gene': 'ENSG00000257700', 'score': 18.24}, {'connected_gene': 'KRT1', 'score': 0.77}, {'connected_gene': 'KRT2', 'score': 0.34}]
chr12	GH12I052666	52666212	52666626	0.4	[{'connected_gene': 'ENSG00000257700', 'score': 10.33}, {'connected_gene': 'KRT1', 'score': 6.77}, {'connected_gene': 'KRT2', 'score': 0.39}]
chr12	GH12I052689	52689586	52690217	0.31	[{'connected_gene': 'ENSG00000257700', 'score': 0.77}, {'connected_gene': 'KRT1', 'score': 0.44}, {'connected_gene': 'KRT77', 'score': 0.39}]
chr12	GH12I052691	52691001	52691600	0.9	[{'connected_gene': 'ENSG00000257700', 'score': 570.02}, {'connected_gene': 'KRT1', 'score': 7.9}, {'connected_gene': 'KRT77', 'score': 0.39}]
chr12	GH12I052682	52682595	52683295	0.2	[{'connected_gene': 'ENSG00000257700', 'score': 14.4}, {'connected_gene': 'KRT1', 'score': 0.77}]
chr12	GH12I052894	52894877	52910978	2.31	[{'connected_gene': 'GC12M052900', 'score': 550.77}, {'connected_gene': 'ZNF740', 'score': 82.97}, {'connected_gene': 'AAAS', 'score': 75.5}, {'connected_gene': 'PCBP2', 'score': 53.52}, {'connected_gene': 'SP1', 'score': 50.57}, {'connected_gene': 'MAP3K12', 'score': 47.43}, {'connected_gene': 'ATF7', 'score': 32.92}, {'connected_gene': 'LOC100652999', 'score': 32.28}, {'connected_gene': 'EIF4B', 'score': 27.31}, {'connected_gene': 'ENSG00000257808', 'score': 27.13}, {'connected_gene': 'ATG101', 'score': 22.94}, {'connected_gene': 'TARBP2', 'score': 20.72}, {'connected_gene': 'CALCOCO1', 'score': 19.69}, {'connected_gene': 'CSAD', 'score': 19.28}, {'connected_gene': 'KRT18', 'score': 18.74}, {'connected_gene': 'SPRYD3', 'score': 14.0}, {'connected_gene': 'PFDN5', 'score': 13.37}, {'connected_gene': 'ENSG00000257605', 'score': 11.94}, {'connected_gene': 'C12orf10', 'score': 11.93}, {'connected_gene': 'KRT7-AS', 'score': 10.51}, {'connected_gene': 'NPFF', 'score': 10.3}, {'connected_gene': 'KRT74', 'score': 10.22}, {'connected_gene': 'KRT78', 'score': 10.11}, {'connected_gene': 'KRT79', 'score': 10.1}, {'connected_gene': 'KRT8', 'score': 9.93}, {'connected_gene': 'KRT82', 'score': 9.58}, {'connected_gene': 'KRT84', 'score': 9.42}, {'connected_gene': 'IGFBP6', 'score': 9.4}, {'connected_gene': 'SOAT2', 'score': 9.4}, {'connected_gene': 'KRT83', 'score': 9.17}, {'connected_gene': 'KRT1', 'score': 1.74}, {'connected_gene': 'KRT76', 'score': 1.71}, {'connected_gene': 'GC12M052898', 'score': 0.44}, {'connected_gene': 'GC12M052899', 'score': 0.44}]