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
ENST00000357780	[[116691418, 116692597], [116693374, 116693501], [116693858, 116694022]]	[[116691582, 116692597], [116693374, 116693501], [116693858, 116693907]]
NM_000482	[[116691417, 116692597], [116693374, 116693501], [116693858, 116694011]]	[[116691582, 116692597], [116693374, 116693501], [116693858, 116693907]]

Promoter

Chrom	Start	End	Description
chr11	116692171	116692179	CAGE_peak_7_at_APOA4_5end
chr11	116692434	116692448	CAGE_peak_3_at_APOA4_5end
chr11	116692584	116692602	CAGE_peak_4_at_APOA4_5end
chr11	116693409	116693420	CAGE_peak_5_at_APOA4_5end
chr11	116693448	116693457	CAGE_peak_6_at_APOA4_5end
chr11	116693484	116693496	CAGE_peak_2_at_APOA4_5end
chr11	116694009	116694029	CAGE_peak_1_at_APOA4_5end
chr11	116694104	116694108	CAGE_peak_13_at_APOA4_5end
chr11	116694123	116694131	CAGE_peak_8_at_APOA4_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	GH11I116821	116821830	116824329	0.99	[{'connected_gene': 'APOA4', 'score': 550.77}, {'connected_gene': 'LOC653303', 'score': 25.69}, {'connected_gene': 'APOA1', 'score': 15.2}, {'connected_gene': 'ENSG00000236267', 'score': 0.44}]
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}]