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
ENST00000433777	[[116700421, 116700602], [116701285, 116701353], [116701488, 116701598]]	[[116701298, 116701353], [116701488, 116701598]]
ENST00000227667	[[116700607, 116700656], [116701285, 116701353], [116701488, 116701612], [116703479, 116703788]]	[[116701298, 116701353], [116701488, 116701612], [116703479, 116703600]]
ENST00000375345	[[116700630, 116700656], [116701208, 116701353], [116701488, 116701612], [116703479, 116703788]]	[[116701244, 116701353], [116701488, 116701612], [116703479, 116703600]]
ENST00000470144	[[116700637, 116700656], [116701285, 116701353], [116701488, 116701612], [116701758, 116701816]]	None
NM_000040	[[116700623, 116700656], [116701285, 116701353], [116701488, 116701612], [116703479, 116703787]]	[[116701298, 116701353], [116701488, 116701612], [116703479, 116703600]]

Promoter

Chrom	Start	End	Description
chr11	116700600	116700613	CAGE_peak_2_at_APOC3_5end
chr11	116700614	116700631	CAGE_peak_1_at_APOC3_5end
chr11	116701286	116701320	CAGE_peak_3_at_APOC3_5end
chr11	116701324	116701329	CAGE_peak_8_at_APOC3_5end
chr11	116703478	116703486	CAGE_peak_6_at_APOC3_5end
chr11	116703597	116703615	CAGE_peak_5_at_APOC3_5end
chr11	116703695	116703715	CAGE_peak_4_at_APOC3_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr11	GH11I117088	117088861	117091022	0.8	[{'connected_gene': 'LOC653303', 'score': 23.8}, {'connected_gene': 'APOA1', 'score': 16.12}, {'connected_gene': 'APOA1-AS', 'score': 10.5}, {'connected_gene': 'APOC3', 'score': 10.5}, {'connected_gene': 'APOA4', 'score': 10.5}, {'connected_gene': 'PCSK7', 'score': 9.72}, {'connected_gene': 'RNF214', 'score': 9.72}, {'connected_gene': 'SIK3', 'score': 5.22}, {'connected_gene': 'GC11M117070', 'score': 0.37}]
chr11	GH11I116887	116887358	116889582	0.96	[{'connected_gene': 'LOC653303', 'score': 27.31}, {'connected_gene': 'APOA1', 'score': 21.09}, {'connected_gene': 'APOA1-AS', 'score': 11.73}, {'connected_gene': 'APOC3', 'score': 11.72}, {'connected_gene': 'APOA4', 'score': 11.7}, {'connected_gene': 'SIK3', 'score': 11.32}, {'connected_gene': 'ENSG00000224077', 'score': 11.31}, {'connected_gene': 'PAFAH1B2', 'score': 10.48}, {'connected_gene': 'ENSG00000254678', 'score': 10.48}, {'connected_gene': 'APOA5', 'score': 10.17}, {'connected_gene': 'ZPR1', 'score': 10.16}, {'connected_gene': 'ENSG00000226645', 'score': 10.06}, {'connected_gene': 'BUD13', 'score': 10.06}, {'connected_gene': 'PCSK7', 'score': 9.81}, {'connected_gene': 'RNF214', 'score': 9.81}, {'connected_gene': 'GC11P117017', 'score': 0.13}]
chr11	GH11I116851	116851017	116855912	1.57	[{'connected_gene': 'LOC653303', 'score': 18.81}, {'connected_gene': 'SIK3', 'score': 16.45}, {'connected_gene': 'APOA1', 'score': 16.41}, {'connected_gene': 'APOC3', 'score': 12.42}, {'connected_gene': 'APOA4', 'score': 12.38}, {'connected_gene': 'ENSG00000236267', 'score': 12.22}, {'connected_gene': 'APOA5', 'score': 11.34}, {'connected_gene': 'ZPR1', 'score': 11.33}, {'connected_gene': 'ENSG00000224077', 'score': 11.11}, {'connected_gene': 'ENSG00000226645', 'score': 10.58}, {'connected_gene': 'BUD13', 'score': 10.58}, {'connected_gene': 'PCSK7', 'score': 10.03}, {'connected_gene': 'RNF214', 'score': 10.03}, {'connected_gene': 'APOA1-AS', 'score': 0.37}, {'connected_gene': 'GC11P117017', 'score': 0.1}]
chr11	GH11I116903	116903360	116904675	0.2	[{'connected_gene': 'LOC653303', 'score': 17.38}, {'connected_gene': 'SIK3', 'score': 12.11}, {'connected_gene': 'ENSG00000224077', 'score': 12.11}, {'connected_gene': 'APOA5', 'score': 11.1}, {'connected_gene': 'ZPR1', 'score': 11.09}, {'connected_gene': 'APOA1-AS', 'score': 10.68}, {'connected_gene': 'APOC3', 'score': 10.67}, {'connected_gene': 'APOA4', 'score': 10.66}, {'connected_gene': 'APOA1', 'score': 10.65}, {'connected_gene': 'PCSK7', 'score': 10.04}, {'connected_gene': 'RNF214', 'score': 10.04}, {'connected_gene': 'ENSG00000226645', 'score': 9.86}, {'connected_gene': 'BUD13', 'score': 9.86}, {'connected_gene': 'GC11P117017', 'score': 0.14}]
chr11	GH11I116807	116807704	116809579	1.36	[{'connected_gene': 'APOA1', 'score': 28.25}, {'connected_gene': 'LOC653303', 'score': 11.14}, {'connected_gene': 'ENSG00000226645', 'score': 10.82}, {'connected_gene': 'BUD13', 'score': 10.82}, {'connected_gene': 'SIK3', 'score': 10.52}, {'connected_gene': 'ENSG00000224077', 'score': 10.52}, {'connected_gene': 'PAFAH1B2', 'score': 9.93}, {'connected_gene': 'ENSG00000254678', 'score': 9.93}, {'connected_gene': 'PCSK7', 'score': 9.68}, {'connected_gene': 'RNF214', 'score': 9.68}, {'connected_gene': 'APOC3', 'score': 2.78}, {'connected_gene': 'ENSG00000236267', 'score': 0.44}, {'connected_gene': 'APOA5', 'score': 0.37}]
chr11	GH11I116885	116885511	116887034	0.6	[{'connected_gene': 'APOA1', 'score': 27.34}, {'connected_gene': 'LOC653303', 'score': 18.1}, {'connected_gene': 'APOA1-AS', 'score': 11.73}, {'connected_gene': 'APOC3', 'score': 11.72}, {'connected_gene': 'APOA4', 'score': 11.71}, {'connected_gene': 'SIK3', 'score': 11.31}, {'connected_gene': 'ENSG00000224077', 'score': 11.31}, {'connected_gene': 'ENSG00000226645', 'score': 10.06}, {'connected_gene': 'BUD13', 'score': 10.06}, {'connected_gene': 'PCSK7', 'score': 9.81}, {'connected_gene': 'RNF214', 'score': 9.81}, {'connected_gene': 'GC11P117017', 'score': 0.13}]
chr11	GH11I116860	116860733	116862572	0.77	[{'connected_gene': 'APOA1', 'score': 27.57}, {'connected_gene': 'LOC653303', 'score': 19.11}, {'connected_gene': 'APOA1-AS', 'score': 12.21}, {'connected_gene': 'APOC3', 'score': 12.2}, {'connected_gene': 'APOA4', 'score': 12.18}, {'connected_gene': 'SIK3', 'score': 10.98}, {'connected_gene': 'ENSG00000224077', 'score': 10.98}, {'connected_gene': 'APOA5', 'score': 10.95}, {'connected_gene': 'ZPR1', 'score': 10.94}, {'connected_gene': 'PCSK7', 'score': 10.29}, {'connected_gene': 'RNF214', 'score': 10.29}, {'connected_gene': 'ENSG00000226645', 'score': 10.27}, {'connected_gene': 'BUD13', 'score': 10.27}, {'connected_gene': 'PAFAH1B2', 'score': 4.54}, {'connected_gene': 'GC11P117017', 'score': 0.1}]
chr11	GH11I116863	116863929	116868157	0.51	[{'connected_gene': 'APOA1', 'score': 27.26}, {'connected_gene': 'LOC653303', 'score': 19.03}, {'connected_gene': 'APOA1-AS', 'score': 11.99}, {'connected_gene': 'APOC3', 'score': 11.95}, {'connected_gene': 'APOA4', 'score': 11.94}, {'connected_gene': 'SIK3', 'score': 11.85}, {'connected_gene': 'ENSG00000224077', 'score': 11.85}, {'connected_gene': 'APOA5', 'score': 10.91}, {'connected_gene': 'ZPR1', 'score': 10.9}, {'connected_gene': 'PCSK7', 'score': 10.47}, {'connected_gene': 'RNF214', 'score': 10.47}, {'connected_gene': 'GC11P117017', 'score': 0.11}]
chr11	GH11I116855	116855986	116859971	0.43	[{'connected_gene': 'APOA1', 'score': 27.69}, {'connected_gene': 'LOC653303', 'score': 19.52}, {'connected_gene': 'APOA1-AS', 'score': 12.42}, {'connected_gene': 'APOC3', 'score': 12.39}, {'connected_gene': 'APOA4', 'score': 12.38}, {'connected_gene': 'SIK3', 'score': 11.12}, {'connected_gene': 'ENSG00000224077', 'score': 11.12}, {'connected_gene': 'APOA5', 'score': 11.06}, {'connected_gene': 'ZPR1', 'score': 11.06}, {'connected_gene': 'ENSG00000226645', 'score': 10.58}, {'connected_gene': 'BUD13', 'score': 10.58}, {'connected_gene': 'PCSK7', 'score': 10.29}, {'connected_gene': 'RNF214', 'score': 10.29}, {'connected_gene': 'SIDT2', 'score': 5.01}, {'connected_gene': 'GC11P117017', 'score': 0.1}]
chr11	GH11I116825	116825129	116841682	2.67	[{'connected_gene': 'APOA1', 'score': 585.59}, {'connected_gene': 'APOC3', 'score': 572.41}, {'connected_gene': 'GC11P116832', 'score': 550.77}, {'connected_gene': 'GC11P116833', 'score': 550.77}, {'connected_gene': 'APOA5', 'score': 47.35}, {'connected_gene': 'LOC653303', 'score': 24.87}, {'connected_gene': 'TAGLN', 'score': 11.74}, {'connected_gene': 'ZPR1', 'score': 11.35}, {'connected_gene': 'ENSG00000226645', 'score': 10.81}, {'connected_gene': 'BUD13', 'score': 10.81}, {'connected_gene': 'SIK3', 'score': 10.06}, {'connected_gene': 'ENSG00000224077', 'score': 10.06}, {'connected_gene': 'APOA4', 'score': 1.99}, {'connected_gene': 'APOA1-AS', 'score': 0.77}]
chr11	GH11I116912	116912054	116913608	0.78	[{'connected_gene': 'APOA1', 'score': 16.24}, {'connected_gene': 'SIK3', 'score': 11.83}, {'connected_gene': 'ENSG00000224077', 'score': 11.83}, {'connected_gene': 'APOA1-AS', 'score': 11.21}, {'connected_gene': 'APOC3', 'score': 11.2}, {'connected_gene': 'APOA4', 'score': 11.19}, {'connected_gene': 'LOC653303', 'score': 4.47}, {'connected_gene': 'GC11P117017', 'score': 0.15}]
chr11	GH11I117092	117092574	117093694	0.99	[{'connected_gene': 'APOA1', 'score': 12.1}, {'connected_gene': 'APOA1-AS', 'score': 10.5}, {'connected_gene': 'APOC3', 'score': 10.5}, {'connected_gene': 'APOA4', 'score': 10.5}, {'connected_gene': 'PCSK7', 'score': 10.15}, {'connected_gene': 'RNF214', 'score': 10.15}, {'connected_gene': 'TAGLN', 'score': 6.84}, {'connected_gene': 'SIK3', 'score': 0.44}, {'connected_gene': 'GC11M117070', 'score': 0.34}]
chr11	GH11I116890	116890045	116890816	0.71	[{'connected_gene': 'SIK3', 'score': 11.25}, {'connected_gene': 'ENSG00000224077', 'score': 11.25}, {'connected_gene': 'APOA1', 'score': 10.78}, {'connected_gene': 'APOA1-AS', 'score': 10.75}, {'connected_gene': 'APOC3', 'score': 10.73}, {'connected_gene': 'APOA4', 'score': 10.72}, {'connected_gene': 'APOA5', 'score': 10.55}, {'connected_gene': 'ZPR1', 'score': 10.54}, {'connected_gene': 'PAFAH1B2', 'score': 10.27}, {'connected_gene': 'ENSG00000254678', 'score': 10.27}, {'connected_gene': 'ENSG00000226645', 'score': 9.84}, {'connected_gene': 'BUD13', 'score': 9.84}, {'connected_gene': 'PCSK7', 'score': 9.65}, {'connected_gene': 'RNF214', 'score': 9.65}, {'connected_gene': 'GC11P117017', 'score': 0.13}]
chr11	GH11I117039	117039905	117040054	0.86	[{'connected_gene': 'SIK3', 'score': 11.07}, {'connected_gene': 'ENSG00000224077', 'score': 11.07}, {'connected_gene': 'APOA1-AS', 'score': 10.54}, {'connected_gene': 'APOA4', 'score': 10.54}, {'connected_gene': 'APOC3', 'score': 10.54}, {'connected_gene': 'PCSK7', 'score': 10.02}, {'connected_gene': 'RNF214', 'score': 10.02}, {'connected_gene': 'RPS27P19', 'score': 0.77}, {'connected_gene': 'GC11M117070', 'score': 0.29}]
chr11	GH11I117036	117036905	117038400	1.12	[{'connected_gene': 'GC11M117036', 'score': 550.77}, {'connected_gene': 'RPS27P19', 'score': 550.77}, {'connected_gene': 'RNF214', 'score': 22.37}, {'connected_gene': 'APOA1', 'score': 16.13}, {'connected_gene': 'CEP164', 'score': 15.41}, {'connected_gene': 'LOC653303', 'score': 13.5}, {'connected_gene': 'BUD13', 'score': 11.62}, {'connected_gene': 'SIK3', 'score': 11.12}, {'connected_gene': 'ENSG00000224077', 'score': 11.12}, {'connected_gene': 'TAGLN', 'score': 10.73}, {'connected_gene': 'APOA1-AS', 'score': 10.54}, {'connected_gene': 'APOC3', 'score': 10.54}, {'connected_gene': 'APOA4', 'score': 10.54}, {'connected_gene': 'PCSK7', 'score': 10.02}, {'connected_gene': 'GC11M117070', 'score': 0.29}]