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
ENST00000549343	[[52959565, 52960952], [52961442, 52961477], [52961952, 52962173], [52963273, 52963315], [52963642, 52963768], [52964452, 52964617], [52965142, 52965238], [52965727, 52965788], [52966236, 52966451], [52967090, 52967600]]	[[52960752, 52960952], [52961442, 52961477], [52961952, 52962173], [52963273, 52963315], [52963642, 52963768], [52964452, 52964617], [52965142, 52965238], [52965727, 52965788], [52966236, 52966451], [52967090, 52967561]]
ENST00000305620	[[52959602, 52960952], [52961442, 52961477], [52961952, 52962173], [52963642, 52963768], [52964452, 52964617], [52965142, 52965238], [52965727, 52965788], [52966236, 52966451], [52967090, 52967609]]	[[52960752, 52960952], [52961442, 52961477], [52961952, 52962173], [52963642, 52963768], [52964452, 52964617], [52965142, 52965238], [52965727, 52965788], [52966236, 52966451], [52967090, 52967561]]
ENST00000546384	[[52960782, 52960952], [52961442, 52961477], [52961952, 52962294]]	None
NM_175053	[[52959602, 52960952], [52961442, 52961477], [52961952, 52962173], [52963642, 52963768], [52964452, 52964617], [52965142, 52965238], [52965727, 52965788], [52966236, 52966451], [52967090, 52967609]]	[[52960752, 52960952], [52961442, 52961477], [52961952, 52962173], [52963642, 52963768], [52964452, 52964617], [52965142, 52965238], [52965727, 52965788], [52966236, 52966451], [52967090, 52967561]]

Promoter

Chrom	Start	End	Description
chr12	52967622	52967628	CAGE_peak_1_at_KRT74_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr12	GH12I052556	52556345	52556651	0.28	[{'connected_gene': 'KRT82', 'score': 1.91}, {'connected_gene': 'KRT71', 'score': 0.77}, {'connected_gene': 'GC12P052549', 'score': 0.44}, {'connected_gene': 'KRT74', 'score': 0.37}]
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	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	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	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	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	GH12I052558	52558486	52560459	0.43	[{'connected_gene': 'KRT72', 'score': 7.34}, {'connected_gene': 'KRT71', 'score': 0.44}, {'connected_gene': 'GC12P052549', 'score': 0.44}, {'connected_gene': 'KRT74', 'score': 0.39}]
chr12	GH12I052538	52538841	52539845	0.79	[{'connected_gene': 'KRT74', 'score': 11.18}, {'connected_gene': 'KRT84', 'score': 9.68}, {'connected_gene': 'KRT4', 'score': 9.62}, {'connected_gene': 'GC12P052543', 'score': 0.77}, {'connected_gene': 'KRT5', 'score': 0.37}]
chr12	GH12I052573	52573831	52573890	0.5	[{'connected_gene': 'KRT74', 'score': 550.77}, {'connected_gene': 'KRT71', 'score': 0.34}, {'connected_gene': 'GC12P052549', 'score': 0.34}]
chr12	GH12I052553	52553135	52553194	0.5	[{'connected_gene': 'KRT71', 'score': 550.77}, {'connected_gene': 'GC12P052549', 'score': 0.77}, {'connected_gene': 'KRT74', 'score': 0.34}]
chr12	GH12I052557	52557507	52558056	0.31	[{'connected_gene': 'KRT71', 'score': 0.77}, {'connected_gene': 'GC12P052549', 'score': 0.44}, {'connected_gene': 'KRT74', 'score': 0.37}]
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}]