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
ENST00000359227	[[11562140, 11565692], [11567924, 11567963], [11568875, 11569101], [11569272, 11569426], [11576986, 11577090], [11577422, 11577642], [11591414, 11591848]]	[[11565340, 11565692], [11567924, 11567963], [11568875, 11569101], [11569272, 11569426], [11576986, 11577090], [11577422, 11577642], [11591414, 11591423]]
ENST00000438662	[[11565217, 11565671], [11567924, 11567963], [11568875, 11569101], [11569272, 11569426], [11576986, 11577090], [11577422, 11577642], [11591414, 11591440]]	[[11565340, 11565671], [11567924, 11567963], [11568875, 11569101], [11569272, 11569426], [11576986, 11577090], [11577422, 11577642], [11591414, 11591423]]
ENST00000588853	[[11576990, 11577039], [11577422, 11577642], [11591414, 11591512]]	[[11576990, 11577039], [11577422, 11577642], [11591414, 11591423]]
ENST00000592218	[[11591067, 11591086], [11591414, 11591861]]	None
NM_001420	[[11562142, 11565692], [11567924, 11567963], [11568875, 11569101], [11569272, 11569426], [11576986, 11577090], [11577422, 11577642], [11591414, 11591803]]	[[11565340, 11565692], [11567924, 11567963], [11568875, 11569101], [11569272, 11569426], [11576986, 11577090], [11577422, 11577642], [11591414, 11591423]]
NM_032281	[[11562142, 11565671], [11567924, 11567963], [11568875, 11569101], [11569272, 11569426], [11576986, 11577090], [11577422, 11577642], [11591414, 11591803]]	[[11565340, 11565671], [11567924, 11567963], [11568875, 11569101], [11569272, 11569426], [11576986, 11577090], [11577422, 11577642], [11591414, 11591423]]

Promoter

Chrom	Start	End	Description
chr19	11564569	11564588	CAGE_peak_2_at_ELAVL3_5end
chr19	11591788	11591817	CAGE_peak_3_at_ELAVL3_5end
chr19	11591859	11591865	CAGE_peak_1_at_ELAVL3_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I011530	11530201	11530801	1.37	[{'connected_gene': 'ECSIT', 'score': 550.77}, {'connected_gene': 'ZNF439', 'score': 7.72}, {'connected_gene': 'CCDC151', 'score': 5.03}, {'connected_gene': 'ELAVL3', 'score': 2.6}, {'connected_gene': 'ZNF491', 'score': 2.31}, {'connected_gene': 'ZNF653', 'score': 1.78}, {'connected_gene': 'ZNF441', 'score': 1.25}, {'connected_gene': 'GC19P011537', 'score': 0.44}]
chr19	GH19I011478	11478940	11484311	2.09	[{'connected_gene': 'ELAVL3', 'score': 554.01}, {'connected_gene': 'ILF3', 'score': 65.59}, {'connected_gene': 'KRI1', 'score': 46.61}, {'connected_gene': 'ZNF627', 'score': 46.07}, {'connected_gene': 'ZNF136', 'score': 46.0}, {'connected_gene': 'TIMM29', 'score': 37.2}, {'connected_gene': 'ZNF44', 'score': 36.93}, {'connected_gene': 'ZNF441', 'score': 35.34}, {'connected_gene': 'ENSG00000242615', 'score': 34.8}, {'connected_gene': 'ZNF700', 'score': 28.65}, {'connected_gene': 'ZNF625', 'score': 27.32}, {'connected_gene': 'ZNF799', 'score': 26.31}, {'connected_gene': 'ZNF788', 'score': 22.85}, {'connected_gene': 'ZNF844', 'score': 22.66}, {'connected_gene': 'ZNF491', 'score': 22.25}, {'connected_gene': 'PRKCSH', 'score': 22.15}, {'connected_gene': 'ZNF878', 'score': 21.77}, {'connected_gene': 'ZNF442', 'score': 21.61}, {'connected_gene': 'ZNF763', 'score': 21.08}, {'connected_gene': 'ZNF20', 'score': 16.66}, {'connected_gene': 'ZNF433', 'score': 13.92}, {'connected_gene': 'DOCK6', 'score': 13.8}, {'connected_gene': 'HNRNPA1P10', 'score': 12.39}, {'connected_gene': 'ZNF439', 'score': 11.66}, {'connected_gene': 'ILF3-AS1', 'score': 10.7}, {'connected_gene': 'SMARCA4', 'score': 10.6}, {'connected_gene': 'ZNF440', 'score': 10.43}, {'connected_gene': 'QTRT1', 'score': 10.1}, {'connected_gene': 'YIPF2', 'score': 9.86}, {'connected_gene': 'ZNF563', 'score': 9.86}, {'connected_gene': 'LOC100289333', 'score': 9.76}, {'connected_gene': 'ECSIT', 'score': 7.24}, {'connected_gene': 'CCDC151', 'score': 3.31}, {'connected_gene': 'ZNF653', 'score': 2.33}, {'connected_gene': 'GC19M011484', 'score': 0.44}, {'connected_gene': 'ENSG00000267477', 'score': 0.34}]
chr19	GH19I011452	11452484	11454996	1	[{'connected_gene': 'ELAVL3', 'score': 13.16}, {'connected_gene': 'TSPAN16', 'score': 12.11}, {'connected_gene': 'EPOR', 'score': 12.1}, {'connected_gene': 'SWSAP1', 'score': 11.34}, {'connected_gene': 'GC19M011460', 'score': 0.44}, {'connected_gene': 'CCDC151', 'score': 0.37}]
chr19	GH19I011450	11450578	11451345	0.58	[{'connected_gene': 'ELAVL3', 'score': 13.26}, {'connected_gene': 'EPOR', 'score': 12.24}, {'connected_gene': 'PRKCSH', 'score': 5.72}, {'connected_gene': 'GC19M011460', 'score': 0.39}, {'connected_gene': 'CCDC151', 'score': 0.37}]
chr19	GH19I011443	11443714	11449426	0.82	[{'connected_gene': 'ELAVL3', 'score': 13.26}, {'connected_gene': 'EPOR', 'score': 12.81}, {'connected_gene': 'TSPAN16', 'score': 11.98}, {'connected_gene': 'KANK2', 'score': 11.16}, {'connected_gene': 'PRKCSH', 'score': 6.01}, {'connected_gene': 'ENSG00000267174', 'score': 5.09}, {'connected_gene': 'CCDC159', 'score': 4.57}, {'connected_gene': 'CCDC151', 'score': 0.39}, {'connected_gene': 'GC19M011460', 'score': 0.37}]
chr19	GH19I011451	11451526	11451675	0.4	[{'connected_gene': 'ELAVL3', 'score': 13.28}, {'connected_gene': 'EPOR', 'score': 12.24}, {'connected_gene': 'CCDC159', 'score': 4.24}, {'connected_gene': 'GC19M011460', 'score': 0.39}, {'connected_gene': 'CCDC151', 'score': 0.37}]
chr19	GH19I011465	11465726	11465915	0.38	[{'connected_gene': 'GC19P011467', 'score': 550.77}, {'connected_gene': 'GC19M011464', 'score': 550.77}, {'connected_gene': 'RGL3', 'score': 5.01}, {'connected_gene': 'ELAVL3', 'score': 0.37}]
chr19	GH19I011462	11462652	11464005	0.56	[{'connected_gene': 'GC19M011464', 'score': 550.77}, {'connected_gene': 'GC19M011460', 'score': 550.77}, {'connected_gene': 'PRKCSH', 'score': 5.74}, {'connected_gene': 'ELAVL3', 'score': 0.37}]
chr19	GH19I011373	11373205	11379434	2.53	[{'connected_gene': 'PIR61774', 'score': 550.77}, {'connected_gene': 'ENSG00000267277', 'score': 550.77}, {'connected_gene': 'SWSAP1', 'score': 550.77}, {'connected_gene': 'ILF3', 'score': 48.6}, {'connected_gene': 'KRI1', 'score': 43.59}, {'connected_gene': 'ZNF627', 'score': 37.21}, {'connected_gene': 'ZNF136', 'score': 35.31}, {'connected_gene': 'ZNF442', 'score': 35.14}, {'connected_gene': 'ZNF844', 'score': 34.32}, {'connected_gene': 'ZNF44', 'score': 29.56}, {'connected_gene': 'TIMM29', 'score': 29.24}, {'connected_gene': 'ZNF625', 'score': 24.43}, {'connected_gene': 'ZNF823', 'score': 23.77}, {'connected_gene': 'ZNF491', 'score': 23.26}, {'connected_gene': 'ZNF563', 'score': 22.85}, {'connected_gene': 'ZNF20', 'score': 21.65}, {'connected_gene': 'ZNF763', 'score': 18.75}, {'connected_gene': 'ZNF441', 'score': 12.34}, {'connected_gene': 'TMEM205', 'score': 12.2}, {'connected_gene': 'CCDC159', 'score': 12.18}, {'connected_gene': 'RAB3D', 'score': 12.18}, {'connected_gene': 'YIPF2', 'score': 12.07}, {'connected_gene': 'ZNF878', 'score': 11.83}, {'connected_gene': 'HNRNPA1P10', 'score': 11.52}, {'connected_gene': 'ZNF887P', 'score': 11.18}, {'connected_gene': 'CARM1', 'score': 10.9}, {'connected_gene': 'ZNF700', 'score': 10.41}, {'connected_gene': 'RPL18AP13', 'score': 9.74}, {'connected_gene': 'QTRT1', 'score': 9.73}, {'connected_gene': 'CDC37', 'score': 9.73}, {'connected_gene': 'PLPPR2', 'score': 7.81}, {'connected_gene': 'ELAVL3', 'score': 6.16}, {'connected_gene': 'PRKCSH', 'score': 5.16}, {'connected_gene': 'ZNF439', 'score': 2.17}, {'connected_gene': 'CCDC151', 'score': 2.05}, {'connected_gene': 'ZNF653', 'score': 2.01}, {'connected_gene': 'SMARCA4', 'score': 1.58}, {'connected_gene': 'EPOR', 'score': 0.44}]
chr19	GH19I011489	11489731	11491598	1.09	[{'connected_gene': 'GC19M011484', 'score': 550.77}, {'connected_gene': 'ZNF491', 'score': 1.44}, {'connected_gene': 'ZNF441', 'score': 1.35}, {'connected_gene': 'ELAVL3', 'score': 0.44}, {'connected_gene': 'ZNF653', 'score': 0.37}, {'connected_gene': 'ENSG00000267477', 'score': 0.37}]