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
ENST00000524763	[[694437, 694475], [706140, 706288], [709329, 709451], [709552, 709608], [710421, 710486], [720061, 720212]]	[[709407, 709451], [709552, 709608], [710421, 710486], [720061, 720212]]
ENST00000527199	[[705216, 705454], [706140, 706288], [709329, 709451], [709552, 709584]]	[[709407, 709451], [709552, 709584]]
ENST00000318562	[[706112, 706288], [709329, 709451], [709552, 709608], [710421, 710486], [720061, 720223], [720596, 720746], [720829, 720909], [721063, 721206], [721284, 721352], [721564, 721691], [721902, 721991], [722090, 722165], [722400, 722549], [722672, 722805], [723240, 723353], [724723, 724829], [725727, 725847], [726097, 726170], [726303, 726484], [726618, 726751], [726900, 727727]]	[[709407, 709451], [709552, 709608], [710421, 710486], [720061, 720223], [720596, 720746], [720829, 720909], [721063, 721206], [721284, 721352], [721564, 721691], [721902, 721991], [722090, 722165], [722400, 722549], [722672, 722805], [723240, 723353], [724723, 724829], [725727, 725847], [726097, 726170], [726303, 726484], [726618, 726751], [726900, 726981]]
ENST00000533256	[[706116, 706288], [706676, 706801], [709329, 709451], [709552, 709608], [710421, 710486], [720061, 720223], [720596, 720746], [720829, 720909], [721063, 721206], [721284, 721352], [721564, 721691], [721902, 721991], [722090, 722165], [722400, 722549], [722672, 722805], [723240, 723353], [724723, 724829], [725727, 725847], [726097, 726170], [726303, 726484], [726618, 726751], [726900, 727724]]	[[709407, 709451], [709552, 709608], [710421, 710486], [720061, 720223], [720596, 720746], [720829, 720909], [721063, 721206], [721284, 721352], [721564, 721691], [721902, 721991], [722090, 722165], [722400, 722549], [722672, 722805], [723240, 723353], [724723, 724829], [725727, 725847], [726097, 726170], [726303, 726484], [726618, 726751], [726900, 726981]]
ENST00000534755	[[706200, 706288], [708574, 708643], [709329, 709451], [709552, 709608], [710421, 710486], [720061, 720135]]	[[709407, 709451], [709552, 709608], [710421, 710486], [720061, 720135]]
ENST00000529346	[[706202, 706288], [709329, 709451], [709552, 709608], [710421, 710486], [720061, 720223], [720548, 720746], [720829, 720909], [721063, 721206], [721284, 721352], [721564, 722302]]	None
ENST00000526909	[[706223, 706288], [709329, 709451], [709552, 710486], [720061, 720223], [720596, 720746], [720829, 720909], [721063, 721206], [721284, 721352], [721564, 721691], [721902, 721991], [722090, 722165], [722400, 722549], [722672, 722805], [723240, 723353], [724723, 724829], [725727, 725847], [726097, 726170], [726303, 726484], [726618, 726751], [726900, 727721]]	[[709407, 709451], [709552, 709616]]
ENST00000529680	[[706230, 706288], [706673, 706801], [709329, 709451], [709552, 709795]]	None
ENST00000530093	[[706230, 706288], [709329, 709451], [709552, 709608], [710304, 710482]]	None
ENST00000533500	[[706236, 706288], [706595, 706801], [709329, 709451], [709552, 709608], [710421, 710486], [720061, 720147]]	[[709407, 709451], [709552, 709608], [710421, 710486], [720061, 720147]]
ENST00000527807	[[706241, 706288], [709329, 709451], [709552, 709608], [710027, 710486], [720061, 720191]]	None
ENST00000531348	[[706594, 706813], [709329, 709451], [709552, 709608], [710421, 710486], [720061, 720181]]	[[709407, 709451], [709552, 709608], [710421, 710486], [720061, 720181]]
ENST00000526380	[[706615, 706801], [709329, 709451], [709552, 709789]]	None
ENST00000530636	[[706628, 706801], [709329, 709451], [709552, 709608], [710421, 710486], [720061, 720223], [720596, 720746], [720829, 720909], [721063, 721206], [721284, 721352], [721564, 721691], [721902, 721991], [722090, 722165], [722400, 722549], [722672, 722805], [723240, 723353], [724723, 724829], [725727, 725847], [726097, 726170], [726303, 726484], [726618, 726751], [726900, 727051]]	[[709407, 709451], [709552, 709608], [710421, 710486], [720061, 720223], [720596, 720746], [720829, 720909], [721063, 721206], [721284, 721352], [721564, 721691], [721902, 721991], [722090, 722165], [722400, 722549], [722672, 722805], [723240, 723353], [724723, 724829], [725727, 725847], [726097, 726170], [726303, 726484], [726618, 726751], [726900, 726981]]
ENST00000526198	[[709367, 709451], [709552, 709608], [710421, 710486], [720061, 720223], [720548, 720746], [720829, 720909], [721063, 721206], [721284, 721352], [721564, 721691], [721902, 721991], [722090, 722165], [722400, 722549], [722672, 722805], [723240, 723353], [724723, 724829], [725727, 725847], [726097, 726170], [726303, 726484], [726618, 726751], [726900, 727034]]	[[709407, 709451], [709552, 709608], [710421, 710486], [720061, 720223], [720548, 720746], [720829, 720909], [721063, 721206], [721284, 721352], [721564, 721691], [721902, 721991], [722090, 722165], [722400, 722549], [722672, 722805], [723240, 723353], [724723, 724829], [725727, 725847], [726097, 726170], [726303, 726484], [726618, 726751], [726900, 726981]]
ENST00000530118	[[709559, 709608], [710356, 710486], [720061, 720223], [720596, 720746], [720829, 720899]]	None
ENST00000524474	[[720605, 720746], [720829, 720909], [721063, 721206], [721284, 721352], [721564, 721691], [721902, 721991], [722090, 722165], [722400, 722584]]	None
ENST00000531471	[[720971, 721352], [721564, 721631]]	None
ENST00000526651	[[721018, 721206], [721284, 721352], [721564, 721691], [721902, 721991], [722400, 722500]]	None
ENST00000532545	[[721072, 721187], [721284, 721352], [721564, 721800]]	None
ENST00000528770	[[721074, 721206], [721284, 721352], [721564, 721691], [722090, 722165], [722400, 722549], [722672, 722805], [723240, 723353], [724723, 724829], [725727, 725847], [726097, 726170], [726303, 726484], [726618, 726751], [726900, 727723]]	[[721074, 721206], [721284, 721352], [721564, 721691], [722090, 722165], [722400, 722501]]
ENST00000530452	[[721084, 721206], [721284, 721352], [721564, 721691], [722400, 722549], [722672, 722805], [723240, 723345]]	[[721084, 721206], [721284, 721352], [721564, 721691], [722400, 722501]]
ENST00000533816	[[721281, 721352], [721564, 721691], [721902, 721991], [722090, 722343]]	None
ENST00000531393	[[721925, 722549], [722672, 722805], [723240, 723353], [724723, 724829], [725727, 725847], [726097, 726170], [726303, 726484], [726618, 726751], [726900, 727721]]	None
ENST00000527832	[[724561, 724829], [725727, 725847], [726097, 726170], [726303, 726484], [726618, 726751], [726900, 727722]]	None
ENST00000534679	[[726080, 726484], [726618, 726751], [726900, 727113]]	None
ENST00000534027	[[726560, 726751], [726900, 727051]]	None
ENST00000534449	[[726626, 726751], [727356, 727722]]	None
ENST00000524973	[[726953, 727054], [727356, 727658]]	None
NM_022772	[[706119, 706288], [709329, 709451], [709552, 709608], [710421, 710486], [720061, 720223], [720596, 720746], [720829, 720909], [721063, 721206], [721284, 721352], [721564, 721691], [721902, 721991], [722090, 722165], [722400, 722549], [722672, 722805], [723240, 723353], [724723, 724829], [725727, 725847], [726097, 726170], [726303, 726484], [726618, 726751], [726900, 727727]]	[[709407, 709451], [709552, 709608], [710421, 710486], [720061, 720223], [720596, 720746], [720829, 720909], [721063, 721206], [721284, 721352], [721564, 721691], [721902, 721991], [722090, 722165], [722400, 722549], [722672, 722805], [723240, 723353], [724723, 724829], [725727, 725847], [726097, 726170], [726303, 726484], [726618, 726751], [726900, 726981]]

Promoter

Chrom	Start	End	Description
chr11	705180	705187	CAGE_peak_39_at_EPS8L2_5end
chr11	705193	705227	CAGE_peak_5_at_EPS8L2_5end
chr11	706174	706213	CAGE_peak_2_at_EPS8L2_5end
chr11	706215	706216	CAGE_peak_6_at_EPS8L2_5end
chr11	706219	706260	CAGE_peak_1_at_EPS8L2_5end
chr11	706605	706650	CAGE_peak_3_at_EPS8L2_5end
chr11	724548	724568	CAGE_peak_11_at_EPS8L2_5end
chr11	724584	724593	CAGE_peak_33_at_EPS8L2_5end
chr11	725758	725810	CAGE_peak_4_at_EPS8L2_5end
chr11	726099	726110	CAGE_peak_18_at_EPS8L2_5end
chr11	726375	726411	CAGE_peak_7_at_EPS8L2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr11	GH11I000702	702328	711838	2.37	[{'connected_gene': 'EPS8L2', 'score': 578.36}, {'connected_gene': 'LOC105376508', 'score': 550.77}, {'connected_gene': 'DEAF1', 'score': 550.77}, {'connected_gene': 'TMEM80', 'score': 25.27}, {'connected_gene': 'PGGHG', 'score': 6.21}, {'connected_gene': 'HRAS', 'score': 4.42}, {'connected_gene': 'GC11P000712', 'score': 0.44}, {'connected_gene': 'ENSG00000269915', 'score': 0.37}]
chr11	GH11I000765	765893	767548	0.62	[{'connected_gene': 'RPLP2', 'score': 21.2}, {'connected_gene': 'LOC171391', 'score': 11.05}, {'connected_gene': 'EPS8L2', 'score': 6.1}, {'connected_gene': 'GATD1', 'score': 0.39}, {'connected_gene': 'TALDO1', 'score': 0.37}]
chr11	GH11I000623	623246	626985	1.18	[{'connected_gene': 'CDHR5', 'score': 550.77}, {'connected_gene': 'TMEM80', 'score': 13.66}, {'connected_gene': 'EPS8L2', 'score': 5.18}, {'connected_gene': 'LOC692247', 'score': 4.94}, {'connected_gene': 'GC11M000619', 'score': 0.77}, {'connected_gene': 'SCT', 'score': 0.77}]
chr11	GH11I000689	689506	690216	0.2	[{'connected_gene': 'TMEM80', 'score': 13.51}, {'connected_gene': 'CD151', 'score': 6.2}, {'connected_gene': 'EPS8L2', 'score': 0.77}, {'connected_gene': 'DEAF1', 'score': 0.37}, {'connected_gene': 'ENSG00000255158', 'score': 0.34}]
chr11	GH11I000657	657246	658592	0.72	[{'connected_gene': 'TMEM80', 'score': 56.58}, {'connected_gene': 'EPS8L2', 'score': 22.27}, {'connected_gene': 'DEAF1', 'score': 12.94}, {'connected_gene': 'CDHR5', 'score': 11.95}, {'connected_gene': 'IRF7', 'score': 11.92}, {'connected_gene': 'TALDO1', 'score': 11.84}, {'connected_gene': 'CEND1', 'score': 11.3}, {'connected_gene': 'SLC25A22', 'score': 11.29}, {'connected_gene': 'PIDD1', 'score': 11.29}, {'connected_gene': 'RPLP2', 'score': 11.29}, {'connected_gene': 'LOC171391', 'score': 11.18}, {'connected_gene': 'GATD1', 'score': 11.18}, {'connected_gene': 'ENSG00000255142', 'score': 11.17}, {'connected_gene': 'PTDSS2', 'score': 5.07}, {'connected_gene': 'HRAS', 'score': 4.98}, {'connected_gene': 'GC11P000654', 'score': 0.77}, {'connected_gene': 'GC11P000663', 'score': 0.44}]
chr11	GH11I000690	690739	699430	2.24	[{'connected_gene': 'TMEM80', 'score': 594.94}, {'connected_gene': 'EPS8L2', 'score': 566.31}, {'connected_gene': 'DEAF1', 'score': 550.39}, {'connected_gene': 'HRAS', 'score': 6.57}, {'connected_gene': 'DRD4', 'score': 5.41}, {'connected_gene': 'LOC105376508', 'score': 0.39}]
chr11	GH11I000686	686248	687464	0.38	[{'connected_gene': 'TMEM80', 'score': 43.24}, {'connected_gene': 'EPS8L2', 'score': 0.44}, {'connected_gene': 'DEAF1', 'score': 0.37}, {'connected_gene': 'ENSG00000255158', 'score': 0.34}]
chr11	GH11I000662	662801	662970	0.72	[{'connected_gene': 'GC11P000663', 'score': 550.77}, {'connected_gene': 'EPS8L2', 'score': 12.12}, {'connected_gene': 'TMEM80', 'score': 12.12}, {'connected_gene': 'CDHR5', 'score': 12.09}, {'connected_gene': 'DEAF1', 'score': 12.09}, {'connected_gene': 'IRF7', 'score': 12.06}, {'connected_gene': 'LOC171391', 'score': 11.54}, {'connected_gene': 'GATD1', 'score': 11.54}, {'connected_gene': 'ENSG00000255142', 'score': 11.53}, {'connected_gene': 'CEND1', 'score': 11.16}, {'connected_gene': 'SLC25A22', 'score': 11.15}, {'connected_gene': 'PIDD1', 'score': 11.15}, {'connected_gene': 'RPLP2', 'score': 11.15}, {'connected_gene': 'GC11P000654', 'score': 0.44}]
chr11	GH11I000723	723201	723530	0.82	[{'connected_gene': 'ENSG00000255108', 'score': 36.98}, {'connected_gene': 'ENSG00000269915', 'score': 0.77}, {'connected_gene': 'GC11P000712', 'score': 0.39}, {'connected_gene': 'EPS8L2', 'score': 0.31}]
chr11	GH11I000712	712148	714355	1.08	[{'connected_gene': 'GC11P000712', 'score': 550.77}, {'connected_gene': 'EPS8L2', 'score': 15.29}, {'connected_gene': 'ENSG00000269915', 'score': 0.39}]
chr11	GH11I000725	725018	730200	1.42	[{'connected_gene': 'ENSG00000269915', 'score': 550.77}, {'connected_gene': 'ENSG00000255108', 'score': 29.77}, {'connected_gene': 'RPLP2', 'score': 20.51}, {'connected_gene': 'LOC171391', 'score': 14.34}, {'connected_gene': 'TMEM80', 'score': 7.5}, {'connected_gene': 'CD151', 'score': 7.05}, {'connected_gene': 'EPS8L2', 'score': 5.7}, {'connected_gene': 'LOC105376509', 'score': 0.44}]
chr11	GH11I000654	654861	655777	1.04	[{'connected_gene': 'GC11P000654', 'score': 550.77}, {'connected_gene': 'TMEM80', 'score': 35.1}, {'connected_gene': 'CDHR5', 'score': 16.91}, {'connected_gene': 'EPS8L2', 'score': 12.64}, {'connected_gene': 'DEAF1', 'score': 12.6}, {'connected_gene': 'IRF7', 'score': 12.55}, {'connected_gene': 'TALDO1', 'score': 11.88}, {'connected_gene': 'ENSG00000255142', 'score': 11.65}, {'connected_gene': 'LOC171391', 'score': 11.65}, {'connected_gene': 'GATD1', 'score': 11.65}, {'connected_gene': 'CEND1', 'score': 11.1}, {'connected_gene': 'SLC25A22', 'score': 11.1}, {'connected_gene': 'PIDD1', 'score': 11.09}, {'connected_gene': 'RPLP2', 'score': 11.09}, {'connected_gene': 'PTDSS2', 'score': 5.18}, {'connected_gene': 'CHID1', 'score': 5.08}, {'connected_gene': 'SIRT3', 'score': 2.35}, {'connected_gene': 'NLRP6', 'score': 1.29}, {'connected_gene': 'GC11P000663', 'score': 0.44}]
chr11	GH11I000743	743452	745339	0.92	[{'connected_gene': 'ENSG00000255108', 'score': 41.41}, {'connected_gene': 'LOC171391', 'score': 8.07}, {'connected_gene': 'TMEM80', 'score': 6.27}, {'connected_gene': 'EPS8L2', 'score': 5.76}, {'connected_gene': 'TALDO1', 'score': 0.77}, {'connected_gene': 'GC11P000742', 'score': 0.77}, {'connected_gene': 'GC11P000743', 'score': 0.77}, {'connected_gene': 'LOC105376509', 'score': 0.44}]
chr11	GH11I000720	720043	722781	1.03	[{'connected_gene': 'ENSG00000255108', 'score': 40.97}, {'connected_gene': 'LOC171391', 'score': 11.02}, {'connected_gene': 'TMEM80', 'score': 7.47}, {'connected_gene': 'EPS8L2', 'score': 4.57}, {'connected_gene': 'ENSG00000269915', 'score': 0.44}, {'connected_gene': 'GC11P000712', 'score': 0.44}]
chr11	GH11I000737	737087	738919	1.15	[{'connected_gene': 'GC11P000742', 'score': 550.77}, {'connected_gene': 'LOC105376509', 'score': 550.77}, {'connected_gene': 'GC11P000743', 'score': 550.77}, {'connected_gene': 'LOC171391', 'score': 12.29}, {'connected_gene': 'EPS8L2', 'score': 7.59}, {'connected_gene': 'TALDO1', 'score': 7.16}, {'connected_gene': 'TMEM80', 'score': 6.68}, {'connected_gene': 'ENSG00000255108', 'score': 6.08}, {'connected_gene': 'SIGIRR', 'score': 1.99}, {'connected_gene': 'PKP3', 'score': 1.33}]
chr11	GH11I000793	793917	798732	2.19	[{'connected_gene': 'GC11P000798', 'score': 550.77}, {'connected_gene': 'PANO1', 'score': 550.77}, {'connected_gene': 'SLC25A22', 'score': 550.77}, {'connected_gene': 'TMEM80', 'score': 12.93}, {'connected_gene': 'EPS8L2', 'score': 9.85}, {'connected_gene': 'ENSG00000255108', 'score': 5.65}, {'connected_gene': 'PIDD1', 'score': 5.25}, {'connected_gene': 'CRACR2B', 'score': 4.91}]