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
ENST00000257974	[[52787714, 52788979], [52789542, 52789574], [52789795, 52790016], [52790666, 52790792], [52793768, 52793933], [52794310, 52794406], [52795072, 52795133], [52797484, 52797693], [52799650, 52800139]]	[[52788758, 52788979], [52789542, 52789574], [52789795, 52790016], [52790666, 52790792], [52793768, 52793933], [52794310, 52794406], [52795072, 52795133], [52797484, 52797693], [52799650, 52800061]]
NM_033033	[[52787734, 52788979], [52789542, 52789574], [52789795, 52790016], [52790666, 52790792], [52793768, 52793933], [52794310, 52794406], [52795072, 52795133], [52797484, 52797693], [52799650, 52800176]]	[[52788758, 52788979], [52789542, 52789574], [52789795, 52790016], [52790666, 52790792], [52793768, 52793933], [52794310, 52794406], [52795072, 52795133], [52797484, 52797693], [52799650, 52800061]]

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr12	GH12I052390	52390500	52392997	0.68	[{'connected_gene': 'KRT86', 'score': 17.33}, {'connected_gene': 'SP1', 'score': 15.56}, {'connected_gene': 'HNRNPA3P10', 'score': 15.25}, {'connected_gene': 'ZNF740', 'score': 14.46}, {'connected_gene': 'AAAS', 'score': 12.24}, {'connected_gene': 'CSAD', 'score': 10.36}, {'connected_gene': 'KRT6C', 'score': 9.98}, {'connected_gene': 'ENSG00000257808', 'score': 9.82}, {'connected_gene': 'KRT71', 'score': 9.77}, {'connected_gene': 'KRT83', 'score': 8.38}, {'connected_gene': 'KRT72', 'score': 5.98}, {'connected_gene': 'KRT84', 'score': 0.77}, {'connected_gene': 'KRT82', 'score': 0.39}, {'connected_gene': 'ENSG00000258253', 'score': 0.39}, {'connected_gene': 'GC12M052334', 'score': 0.2}, {'connected_gene': 'GC12M052373', 'score': 0.19}]
chr12	GH12I052395	52395877	52396026	0.59	[{'connected_gene': 'KRT83', 'score': 10.18}, {'connected_gene': 'KRT71', 'score': 10.17}, {'connected_gene': 'KRT6C', 'score': 10.11}, {'connected_gene': 'KRT86', 'score': 6.96}, {'connected_gene': 'KRT84', 'score': 0.44}, {'connected_gene': 'KRT82', 'score': 0.39}, {'connected_gene': 'ENSG00000258253', 'score': 0.37}, {'connected_gene': 'GC12M052334', 'score': 0.21}, {'connected_gene': 'GC12M052373', 'score': 0.2}]
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	GH12I052968	52968804	52973493	1.35	[{'connected_gene': 'KRT18', 'score': 19.45}, {'connected_gene': 'KRT79', 'score': 10.09}, {'connected_gene': 'KRT82', 'score': 10.03}, {'connected_gene': 'KRT84', 'score': 9.64}, {'connected_gene': 'KRT71', 'score': 9.27}, {'connected_gene': 'KRT4', 'score': 9.06}, {'connected_gene': 'KRT86', 'score': 8.65}, {'connected_gene': 'KRT8', 'score': 5.58}, {'connected_gene': 'LOC283335', 'score': 5.49}, {'connected_gene': 'SOAT2', 'score': 5.07}, {'connected_gene': 'EIF4B', 'score': 4.5}]
chr12	GH12I052491	52491379	52497734	1.85	[{'connected_gene': 'KRT6A', 'score': 563.51}, {'connected_gene': 'KRT6C', 'score': 21.45}, {'connected_gene': 'KRT5', 'score': 19.58}, {'connected_gene': 'KRT71', 'score': 10.39}, {'connected_gene': 'KRT82', 'score': 10.29}, {'connected_gene': 'KRT84', 'score': 10.01}, {'connected_gene': 'KRT87P', 'score': 9.88}, {'connected_gene': 'KRT86', 'score': 9.88}, {'connected_gene': 'KRT2', 'score': 9.71}, {'connected_gene': 'KRT78', 'score': 9.69}, {'connected_gene': 'KRT83', 'score': 9.47}, {'connected_gene': 'PFDN5', 'score': 4.93}, {'connected_gene': 'KRT6B', 'score': 3.27}, {'connected_gene': 'ATG101', 'score': 1.61}, {'connected_gene': 'KRT75', 'score': 1.48}, {'connected_gene': 'KRT7', 'score': 1.33}, {'connected_gene': 'KRT18', 'score': 1.3}, {'connected_gene': 'GC12M052518', 'score': 0.34}]
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	GH12I052499	52499348	52501040	0.2	[{'connected_gene': 'KRT6C', 'score': 21.18}, {'connected_gene': 'KRT5', 'score': 11.17}, {'connected_gene': 'KRT71', 'score': 10.4}, {'connected_gene': 'KRT82', 'score': 10.28}, {'connected_gene': 'KRT84', 'score': 10.0}, {'connected_gene': 'KRT87P', 'score': 9.88}, {'connected_gene': 'KRT86', 'score': 9.88}, {'connected_gene': 'KRT78', 'score': 9.69}, {'connected_gene': 'KRT83', 'score': 9.48}, {'connected_gene': 'KRT2', 'score': 9.21}, {'connected_gene': 'KRT6A', 'score': 7.13}, {'connected_gene': 'GC12M052518', 'score': 0.37}]
chr12	GH12I052506	52506844	52507581	0.63	[{'connected_gene': 'KRT6C', 'score': 10.61}, {'connected_gene': 'KRT71', 'score': 10.36}, {'connected_gene': 'KRT82', 'score': 10.21}, {'connected_gene': 'KRT84', 'score': 10.15}, {'connected_gene': 'KRT78', 'score': 9.64}, {'connected_gene': 'KRT4', 'score': 9.33}, {'connected_gene': 'ENSG00000259884', 'score': 5.88}, {'connected_gene': 'KRT5', 'score': 5.5}, {'connected_gene': 'GC12M052518', 'score': 0.39}, {'connected_gene': 'KRT6A', 'score': 0.39}]
chr12	GH12I052974	52974386	52977851	1.34	[{'connected_gene': 'EIF4B', 'score': 14.02}, {'connected_gene': 'KRT18', 'score': 12.27}, {'connected_gene': 'KRT82', 'score': 10.03}, {'connected_gene': 'KRT71', 'score': 9.92}, {'connected_gene': 'KRT84', 'score': 9.61}, {'connected_gene': 'SOAT2', 'score': 9.34}, {'connected_gene': 'IGFBP6', 'score': 9.33}, {'connected_gene': 'KRT8', 'score': 4.75}, {'connected_gene': 'TNS2', 'score': 4.55}]
chr12	GH12I052406	52406256	52406315	0.5	[{'connected_gene': 'ENSG00000257500', 'score': 550.77}, {'connected_gene': 'KRT82', 'score': 550.77}, {'connected_gene': 'KRT84', 'score': 0.37}, {'connected_gene': 'GC12M052334', 'score': 0.23}, {'connected_gene': 'GC12M052373', 'score': 0.22}]
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}]