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
ENST00000416739	[[3900212, 3901339], [3907824, 3908002], [3916053, 3916269], [3923202, 3923354], [3931038, 3931169], [3931250, 3931323], [3935323, 3935399], [3938075, 3938196], [3939055, 3939184], [3982377, 3982602]]	[[3916249, 3916269], [3923202, 3923354], [3931038, 3931169], [3931250, 3931323], [3935323, 3935399], [3938075, 3938196], [3939055, 3939184], [3982377, 3982395]]
ENST00000397096	[[3916249, 3916269], [3923202, 3923354], [3931038, 3931169], [3931250, 3931323], [3935323, 3935399], [3938075, 3938196], [3939055, 3939184], [3982377, 3982608]]	[[3916249, 3916269], [3923202, 3923354], [3931038, 3931169], [3931250, 3931323], [3935323, 3935399], [3938075, 3938196], [3939055, 3939181]]
ENST00000427057	[[3918026, 3921605], [3923202, 3923354], [3931038, 3931169], [3931250, 3931323], [3935323, 3935399], [3939055, 3939184], [3973001, 3973123], [3982377, 3982521]]	[[3921288, 3921605], [3923202, 3923354], [3931038, 3931169], [3931250, 3931323], [3935323, 3935399], [3939055, 3939080]]
ENST00000458162	[[3918026, 3921605], [3923202, 3923354], [3931038, 3931169], [3931250, 3931323], [3935323, 3935399], [3939055, 3939184], [3982377, 3982536]]	[[3935393, 3935399], [3939055, 3939184], [3982377, 3982395]]
ENST00000228820	[[3918026, 3921605], [3923202, 3923354], [3931038, 3931169], [3931250, 3931323], [3935323, 3935399], [3938075, 3938196], [3939055, 3939184], [3982377, 3982540]]	[[3921288, 3921605], [3923202, 3923354], [3931038, 3931169], [3931250, 3931323], [3935323, 3935399], [3938075, 3938196], [3939055, 3939184], [3982377, 3982395]]
ENST00000447133	[[3918026, 3921605], [3923202, 3923354], [3931038, 3931169], [3931250, 3931323], [3935323, 3935399], [3939055, 3939184], [3982377, 3982608]]	[[3921288, 3921605], [3923202, 3923354], [3931038, 3931169], [3931250, 3931323], [3935323, 3935399], [3939055, 3939080]]
ENST00000453942	[[3921288, 3921605], [3923202, 3923354], [3924160, 3924219], [3931038, 3931169], [3931250, 3931323], [3935323, 3935399], [3938075, 3938196], [3939055, 3939184], [3982377, 3982516]]	[[3924209, 3924219], [3931038, 3931169], [3931250, 3931323], [3935323, 3935399], [3938075, 3938196], [3939055, 3939184], [3982377, 3982395]]
ENST00000476985	[[3920902, 3921239], [3923202, 3923354], [3931038, 3931140]]	None
ENST00000450737	[[3938139, 3938196], [3939055, 3939184], [3973001, 3973123], [3982377, 3982608]]	[[3938139, 3938196], [3939055, 3939138]]
NM_001286522	[[3918026, 3921605], [3923202, 3923354], [3931038, 3931169], [3931250, 3931323], [3935323, 3935399], [3939055, 3939184], [3973001, 3973123], [3982377, 3982614]]	[[3921288, 3921605], [3923202, 3923354], [3931038, 3931169], [3931250, 3931323], [3935323, 3935399], [3939055, 3939080]]
NR_104461	[[3918026, 3921605], [3923202, 3923354], [3924160, 3924219], [3931038, 3931169], [3931250, 3931323], [3935323, 3935399], [3938075, 3938196], [3939055, 3939184], [3982377, 3982614]]	None
NM_020367	[[3918026, 3921605], [3923202, 3923354], [3931038, 3931169], [3931250, 3931323], [3935323, 3935399], [3938075, 3938196], [3939055, 3939184], [3982377, 3982614]]	[[3921288, 3921605], [3923202, 3923354], [3931038, 3931169], [3931250, 3931323], [3935323, 3935399], [3938075, 3938196], [3939055, 3939184], [3982377, 3982395]]
NM_001286521	[[3918026, 3921605], [3923202, 3923354], [3931038, 3931169], [3931250, 3931323], [3935323, 3935399], [3939055, 3939184], [3982377, 3982614]]	[[3921288, 3921605], [3923202, 3923354], [3931038, 3931169], [3931250, 3931323], [3935323, 3935399], [3939055, 3939080]]

Promoter

Chrom	Start	End	Description
chr12	3920552	3920566	CAGE_peak_7_at_PARP11_5end
chr12	3982511	3982542	CAGE_peak_1_at_PARP11_5end
chr12	3982548	3982575	CAGE_peak_2_at_PARP11_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr12	GH12I004223	4223177	4224908	0.9	[{'connected_gene': 'CCND2', 'score': 11.49}, {'connected_gene': 'CCND2-AS1', 'score': 11.47}, {'connected_gene': 'ENSG00000255920', 'score': 11.47}, {'connected_gene': 'CRACR2A', 'score': 4.49}, {'connected_gene': 'PARP11', 'score': 1.28}, {'connected_gene': 'GC12P005657', 'score': 0.37}]
chr12	GH12I004268	4268440	4281853	2.83	[{'connected_gene': 'CCND2', 'score': 554.83}, {'connected_gene': 'CCND2-AS1', 'score': 550.77}, {'connected_gene': 'ENSG00000255920', 'score': 550.77}, {'connected_gene': 'GC12P005516', 'score': 550.77}, {'connected_gene': 'PARP11', 'score': 9.75}, {'connected_gene': 'C12orf4', 'score': 1.99}, {'connected_gene': 'TIGAR', 'score': 1.41}]
chr12	GH12I004296	4296871	4297176	0.46	[{'connected_gene': 'CCND2', 'score': 18.32}, {'connected_gene': 'CCND2-AS1', 'score': 12.09}, {'connected_gene': 'ENSG00000255920', 'score': 12.09}, {'connected_gene': 'PARP11', 'score': 2.41}, {'connected_gene': 'PIR44232', 'score': 0.44}]
chr12	GH12I004030	4030323	4034561	1.38	[{'connected_gene': 'CCND2', 'score': 12.64}, {'connected_gene': 'CCND2-AS1', 'score': 11.54}, {'connected_gene': 'ENSG00000255920', 'score': 11.54}, {'connected_gene': 'ENSG00000256969', 'score': 5.92}, {'connected_gene': 'HSPA8P5', 'score': 5.78}, {'connected_gene': 'RPL18P9', 'score': 5.05}, {'connected_gene': 'PARP11', 'score': 1.44}]
chr12	GH12I003869	3869038	3874118	2.26	[{'connected_gene': 'PARP11', 'score': 572.53}, {'connected_gene': 'PIR51668', 'score': 550.77}, {'connected_gene': 'RPS27P3', 'score': 10.58}, {'connected_gene': 'TULP3', 'score': 9.78}, {'connected_gene': 'LOC105369609', 'score': 0.77}]
chr12	GH12I004339	4339177	4339554	0.24	[{'connected_gene': 'PARP11', 'score': 2.54}, {'connected_gene': 'TIGAR', 'score': 2.35}, {'connected_gene': 'CCND2', 'score': 1.49}, {'connected_gene': 'RPS15P7', 'score': 0.39}, {'connected_gene': 'FGF23', 'score': 0.26}]
chr12	GH12I004151	4151446	4154634	1.65	[{'connected_gene': 'PARP11', 'score': 7.54}, {'connected_gene': 'C12orf4', 'score': 3.15}, {'connected_gene': 'CRACR2A', 'score': 1.3}, {'connected_gene': 'GC12P005650', 'score': 0.44}, {'connected_gene': 'LOC105369612', 'score': 0.23}]
chr12	GH12I003809	3809053	3810064	0.49	[{'connected_gene': 'PARP11', 'score': 12.54}, {'connected_gene': 'GC12P005643', 'score': 0.34}, {'connected_gene': 'OTUD4P1', 'score': 0.31}]
chr12	GH12I003832	3832889	3834201	0.52	[{'connected_gene': 'PARP11', 'score': 25.7}, {'connected_gene': 'OTUD4P1', 'score': 0.44}, {'connected_gene': 'GC12P005643', 'score': 0.25}]
chr12	GH12I003972	3972590	3972918	0.2	[{'connected_gene': 'PARP11', 'score': 11.54}, {'connected_gene': 'PIR49890', 'score': 0.77}, {'connected_gene': 'GC12M003967', 'score': 0.77}, {'connected_gene': 'LOC105369608', 'score': 0.39}]
chr12	GH12I004140	4140615	4144249	1.49	[{'connected_gene': 'HSPA8P5', 'score': 5.22}, {'connected_gene': 'PARP11', 'score': 3.93}, {'connected_gene': 'CRACR2A', 'score': 1.72}, {'connected_gene': 'CCND2', 'score': 1.27}, {'connected_gene': 'C12orf4', 'score': 1.15}, {'connected_gene': 'GC12P005650', 'score': 0.77}, {'connected_gene': 'RPL18P9', 'score': 0.34}]
chr12	GH12I004148	4148272	4149422	1.18	[{'connected_gene': 'HSPA8P5', 'score': 6.63}, {'connected_gene': 'PARP11', 'score': 3.07}, {'connected_gene': 'C12orf4', 'score': 2.4}, {'connected_gene': 'GC12P005650', 'score': 0.77}, {'connected_gene': 'LOC105369612', 'score': 0.22}]
chr12	GH12I004133	4133349	4137696	1.48	[{'connected_gene': 'HSPA8P5', 'score': 5.49}, {'connected_gene': 'PARP11', 'score': 3.68}, {'connected_gene': 'C12orf4', 'score': 2.19}, {'connected_gene': 'GC12P005650', 'score': 0.39}, {'connected_gene': 'RPL18P9', 'score': 0.37}]
chr12	GH12I003838	3838800	3839600	0.92	[{'connected_gene': 'OTUD4P1', 'score': 550.77}, {'connected_gene': 'PARP11', 'score': 11.45}, {'connected_gene': 'GC12P005643', 'score': 0.23}]
chr12	GH12I003815	3815340	3817937	0.31	[{'connected_gene': 'FGF6', 'score': 9.46}, {'connected_gene': 'PARP11', 'score': 6.61}, {'connected_gene': 'OTUD4P1', 'score': 0.34}, {'connected_gene': 'GC12P005643', 'score': 0.31}]
chr12	GH12I003821	3821515	3822295	0.2	[{'connected_gene': 'RNU6-174P', 'score': 10.52}, {'connected_gene': 'OTUD4P1', 'score': 0.37}, {'connected_gene': 'GC12P005643', 'score': 0.29}, {'connected_gene': 'PARP11', 'score': 0.23}]
chr12	GH12I003863	3863815	3863964	0.38	[{'connected_gene': 'LOC105369609', 'score': 0.77}, {'connected_gene': 'PARP11', 'score': 0.44}, {'connected_gene': 'OTUD4P1', 'score': 0.34}]
chr12	GH12I003961	3961846	3963583	0.96	[{'connected_gene': 'CCND2-AS1', 'score': 11.66}, {'connected_gene': 'ENSG00000255920', 'score': 11.66}, {'connected_gene': 'CCND2', 'score': 11.66}, {'connected_gene': 'PARP11', 'score': 2.2}, {'connected_gene': 'CRACR2A', 'score': 1.39}, {'connected_gene': 'LOC105369608', 'score': 0.77}, {'connected_gene': 'PIR49890', 'score': 0.39}]
chr12	GH12I003880	3880225	3883001	0.38	[{'connected_gene': 'CCND2-AS1', 'score': 12.36}, {'connected_gene': 'ENSG00000255920', 'score': 12.36}, {'connected_gene': 'CCND2', 'score': 12.36}, {'connected_gene': 'PARP11', 'score': 8.73}, {'connected_gene': 'GC12M003877', 'score': 0.77}, {'connected_gene': 'LOC105369609', 'score': 0.39}, {'connected_gene': 'GC12P005659', 'score': 0.21}]
chr12	GH12I004214	4214764	4217055	1.23	[{'connected_gene': 'ENSG00000255920', 'score': 11.95}, {'connected_gene': 'CCND2', 'score': 11.95}, {'connected_gene': 'CCND2-AS1', 'score': 11.94}, {'connected_gene': 'PARP11', 'score': 2.6}, {'connected_gene': 'GC12P005657', 'score': 0.39}]
chr12	GH12I003975	3975015	3975164	0.31	[{'connected_gene': 'PIR49890', 'score': 550.77}, {'connected_gene': 'GC12M003967', 'score': 550.77}, {'connected_gene': 'PARP11', 'score': 11.53}, {'connected_gene': 'LOC105369611', 'score': 0.28}]
chr12	GH12I003973	3972978	3974787	0.38	[{'connected_gene': 'PIR49890', 'score': 550.77}, {'connected_gene': 'GC12M003967', 'score': 550.77}, {'connected_gene': 'PARP11', 'score': 11.53}, {'connected_gene': 'LOC105369608', 'score': 0.37}]
chr12	GH12I003803	3803975	3804144	0.57	[{'connected_gene': 'GC12P005643', 'score': 0.37}, {'connected_gene': 'OTUD4P1', 'score': 0.28}, {'connected_gene': 'PARP11', 'score': 0.2}]
chr12	GH12I003747	3747543	3747824	0.64	[{'connected_gene': 'PIR48376', 'score': 550.77}, {'connected_gene': 'RNU6-174P', 'score': 12.46}, {'connected_gene': 'CRACR2A', 'score': 4.52}, {'connected_gene': 'PARP11', 'score': 2.02}]