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
ENST00000252252	[[52840434, 52841209], [52841322, 52841357], [52841561, 52841782], [52842625, 52842751], [52843252, 52843417], [52843541, 52843637], [52843795, 52843856], [52844189, 52844404], [52845322, 52845910]]	[[52840973, 52841209], [52841322, 52841357], [52841561, 52841782], [52842625, 52842751], [52843252, 52843417], [52843541, 52843637], [52843795, 52843856], [52844189, 52844404], [52845322, 52845862]]
NM_005555	[[52840434, 52841209], [52841322, 52841357], [52841561, 52841782], [52842625, 52842751], [52843252, 52843417], [52843541, 52843637], [52843795, 52843856], [52844189, 52844404], [52845322, 52845910]]	[[52840973, 52841209], [52841322, 52841357], [52841561, 52841782], [52842625, 52842751], [52843252, 52843417], [52843541, 52843637], [52843795, 52843856], [52844189, 52844404], [52845322, 52845862]]

Promoter

Chrom	Start	End	Description
chr12	52845923	52845938	CAGE_peak_1_at_KRT6B_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr12	GH12I052434	52434477	52434639	1.47	[{'connected_gene': 'KRT75', 'score': 550.77}, {'connected_gene': 'KRT6B', 'score': 0.37}, {'connected_gene': 'GC12M052334', 'score': 0.34}, {'connected_gene': 'GC12M052373', 'score': 0.31}]
chr12	GH12I052435	52435451	52437586	0.66	[{'connected_gene': 'KRT75', 'score': 550.77}, {'connected_gene': 'KRT6C', 'score': 11.38}, {'connected_gene': 'KRT6A', 'score': 4.63}, {'connected_gene': 'KRT6B', 'score': 0.37}, {'connected_gene': 'GC12M052334', 'score': 0.34}, {'connected_gene': 'GC12M052373', 'score': 0.31}]
chr12	GH12I052451	52451903	52453869	0.9	[{'connected_gene': 'KRT6B', 'score': 550.77}, {'connected_gene': 'KRT6A', 'score': 550.26}, {'connected_gene': 'KRT6C', 'score': 11.16}, {'connected_gene': 'PFDN5', 'score': 4.6}, {'connected_gene': 'GC12M052334', 'score': 0.44}, {'connected_gene': 'GC12M052373', 'score': 0.44}]
chr12	GH12I052454	52454737	52454886	0.69	[{'connected_gene': 'KRT6B', 'score': 0.77}, {'connected_gene': 'GC12M052334', 'score': 0.77}, {'connected_gene': 'GC12M052373', 'score': 0.44}]
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	GH12I052438	52438272	52439455	0.43	[{'connected_gene': 'KRT6C', 'score': 7.24}, {'connected_gene': 'KRT75', 'score': 0.77}, {'connected_gene': 'KRT6B', 'score': 0.39}, {'connected_gene': 'GC12M052334', 'score': 0.34}, {'connected_gene': 'GC12M052373', 'score': 0.34}]
chr12	GH12I052439	52439922	52443523	1.14	[{'connected_gene': 'KRT6C', 'score': 21.84}, {'connected_gene': 'KRT84', 'score': 9.92}, {'connected_gene': 'KRT2', 'score': 9.16}, {'connected_gene': 'KRT4', 'score': 8.94}, {'connected_gene': 'KRT75', 'score': 0.44}, {'connected_gene': 'KRT6B', 'score': 0.39}, {'connected_gene': 'GC12M052334', 'score': 0.37}, {'connected_gene': 'GC12M052373', 'score': 0.34}]
chr12	GH12I052143	52143138	52158068	1.71	[{'connected_gene': 'HNRNPA3P10', 'score': 24.14}, {'connected_gene': 'EIF4B', 'score': 15.56}, {'connected_gene': 'KRT7-AS', 'score': 10.63}, {'connected_gene': 'KRT5', 'score': 9.83}, {'connected_gene': 'ENSG00000257989', 'score': 7.16}, {'connected_gene': 'KRT7', 'score': 5.58}, {'connected_gene': 'KRT6A', 'score': 5.14}, {'connected_gene': 'OR7E47P', 'score': 4.87}, {'connected_gene': 'IGFBP6', 'score': 4.66}, {'connected_gene': 'KRT6C', 'score': 4.45}, {'connected_gene': 'KRT80', 'score': 2.94}, {'connected_gene': 'ATG101', 'score': 2.52}, {'connected_gene': 'KRT84', 'score': 1.86}, {'connected_gene': 'NR4A1', 'score': 1.79}, {'connected_gene': 'KRT6B', 'score': 1.23}, {'connected_gene': 'GC12P052156', 'score': 0.44}, {'connected_gene': 'GC12M052157', 'score': 0.44}, {'connected_gene': 'LOC105369771', 'score': 0.29}]