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
ENST00000330722	[[52880957, 52881739], [52881852, 52881887], [52882111, 52882332], [52883726, 52883852], [52884352, 52884517], [52884641, 52884737], [52884895, 52884956], [52885305, 52885520], [52886432, 52887041]]	[[52881503, 52881739], [52881852, 52881887], [52882111, 52882332], [52883726, 52883852], [52884352, 52884517], [52884641, 52884737], [52884895, 52884956], [52885305, 52885520], [52886432, 52886972]]
ENST00000548735	[[52883679, 52883852], [52884352, 52884406]]	None
ENST00000549898	[[52883760, 52883852], [52884352, 52884737], [52884895, 52884956], [52885305, 52885520], [52886432, 52886493]]	None
ENST00000549600	[[52883818, 52883852], [52884352, 52884517], [52884641, 52884941]]	None
ENST00000549754	[[52884063, 52884517], [52884641, 52884737], [52884895, 52884956], [52885305, 52885409]]	None
NM_005554	[[52880957, 52881739], [52881852, 52881887], [52882111, 52882332], [52883726, 52883852], [52884352, 52884517], [52884641, 52884737], [52884895, 52884956], [52885305, 52885520], [52886432, 52887181]]	[[52881503, 52881739], [52881852, 52881887], [52882111, 52882332], [52883726, 52883852], [52884352, 52884517], [52884641, 52884737], [52884895, 52884956], [52885305, 52885520], [52886432, 52886972]]

Promoter

Chrom	Start	End	Description
chr12	52884399	52884420	CAGE_peak_7_at_KRT6A_5end
chr12	52884676	52884706	CAGE_peak_13_at_KRT6A_5end
chr12	52885340	52885349	CAGE_peak_10_at_KRT6A_5end
chr12	52885355	52885376	CAGE_peak_2_at_KRT6A_5end
chr12	52886485	52886506	CAGE_peak_6_at_KRT6A_5end
chr12	52886515	52886548	CAGE_peak_4_at_KRT6A_5end
chr12	52887034	52887049	CAGE_peak_1_at_KRT6A_5end
chr12	52887143	52887158	CAGE_peak_8_at_KRT6A_5end
chr12	52887160	52887186	CAGE_peak_3_at_KRT6A_5end
chr12	52887237	52887248	CAGE_peak_12_at_KRT6A_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
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	GH12I052277	52277299	52286486	1.73	[{'connected_gene': 'KRT86', 'score': 27.96}, {'connected_gene': 'ZNF740', 'score': 15.06}, {'connected_gene': 'KRT80', 'score': 13.3}, {'connected_gene': 'KRT7', 'score': 13.27}, {'connected_gene': 'HNRNPA3P10', 'score': 12.85}, {'connected_gene': 'CSAD', 'score': 11.97}, {'connected_gene': 'KRT87P', 'score': 11.89}, {'connected_gene': 'KRT83', 'score': 11.14}, {'connected_gene': 'ENSG00000257808', 'score': 9.87}, {'connected_gene': 'NR4A1', 'score': 3.36}, {'connected_gene': 'ATG101', 'score': 3.05}, {'connected_gene': 'KRT5', 'score': 1.77}, {'connected_gene': 'KRT6A', 'score': 1.65}, {'connected_gene': 'KRT84', 'score': 1.29}, {'connected_gene': 'ENSG00000257830', 'score': 0.77}, {'connected_gene': 'KRT81', 'score': 0.31}, {'connected_gene': 'ENSG00000257829', 'score': 0.31}, {'connected_gene': 'GC12P052156', 'score': 0.13}]
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	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	GH12I052513	52513353	52514578	0.77	[{'connected_gene': 'KRT6A', 'score': 10.71}, {'connected_gene': 'KRT71', 'score': 10.38}, {'connected_gene': 'KRT6C', 'score': 10.03}, {'connected_gene': 'KRT5', 'score': 5.54}, {'connected_gene': 'ENSG00000259884', 'score': 5.2}, {'connected_gene': 'GC12M052518', 'score': 0.44}]
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	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	GH12I052473	52473795	52473854	0.76	[{'connected_gene': 'KRT6C', 'score': 550.77}, {'connected_gene': 'PFDN5', 'score': 4.7}, {'connected_gene': 'KRT6A', 'score': 0.37}]
chr12	GH12I052474	52473957	52474086	0.49	[{'connected_gene': 'KRT6C', 'score': 550.77}, {'connected_gene': 'KRT6A', 'score': 0.37}]
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	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}]