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
ENST00000469583	[[220921566, 220922145], [220927709, 220927774], [220928288, 220928402]]	[[220921873, 220922145], [220927709, 220927722]]
ENST00000359316	[[220921610, 220922145], [220928288, 220928462], [220934999, 220935162], [220936251, 220936392], [220957260, 220957582]]	[[220921873, 220922145], [220928288, 220928462], [220934999, 220935162], [220936251, 220936392], [220957260, 220957284]]
ENST00000366913	[[220921675, 220922145], [220928288, 220928462], [220934999, 220935162], [220936251, 220936392], [220953359, 220953421], [220953509, 220953581], [220955119, 220955274], [220957260, 220958150]]	[[220921873, 220922145], [220928288, 220928462], [220934999, 220935162], [220936251, 220936392], [220953359, 220953421], [220953509, 220953581], [220955119, 220955243]]
ENST00000425560	[[220928313, 220928462], [220934999, 220935162], [220936251, 220936392], [220953359, 220953491]]	[[220928313, 220928462], [220934999, 220935162], [220936251, 220936392], [220953359, 220953425]]
ENST00000496078	[[220929619, 220929764], [220934999, 220935106]]	None
ENST00000472447	[[220953303, 220953581], [220955119, 220955274], [220957260, 220957526]]	None
NM_001331042	[[220921587, 220922145], [220928288, 220928462], [220934999, 220935162], [220936251, 220936392], [220957260, 220958157]]	[[220921873, 220922145], [220928288, 220928462], [220934999, 220935162], [220936251, 220936392], [220957260, 220957284]]
NM_017898	[[220921587, 220922145], [220928288, 220928462], [220934999, 220935162], [220936251, 220936392], [220953359, 220953421], [220953509, 220953581], [220955119, 220955274], [220957260, 220958157]]	[[220921873, 220922145], [220928288, 220928462], [220934999, 220935162], [220936251, 220936392], [220953359, 220953421], [220953509, 220953581], [220955119, 220955243]]
NM_001317338	[[220921587, 220922145], [220928288, 220928462], [220934999, 220935162], [220936251, 220936392], [220953359, 220953421], [220953509, 220953581], [220955119, 220955281], [220957260, 220958157]]	[[220921873, 220922145], [220928288, 220928462], [220934999, 220935162], [220936251, 220936392], [220953359, 220953421], [220953509, 220953581], [220955119, 220955243]]

Promoter

Chrom	Start	End	Description
chr1	220921582	220921611	CAGE_peak_2_at_MARC2_5end
chr1	220921618	220921635	CAGE_peak_3_at_MARC2_5end
chr1	220921640	220921674	CAGE_peak_1_at_MARC2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I220732	220732247	220735257	1.16	[{'connected_gene': 'C1orf115', 'score': 32.19}, {'connected_gene': 'MARC1', 'score': 6.05}, {'connected_gene': 'MARC2', 'score': 0.39}, {'connected_gene': 'GC01M220652', 'score': 0.05}]
chr1	GH01I220766	220766297	220769823	1.09	[{'connected_gene': 'C1orf115', 'score': 22.38}, {'connected_gene': 'MARC1', 'score': 12.79}, {'connected_gene': 'MARC2', 'score': 4.83}, {'connected_gene': 'GC01M220652', 'score': 0.05}]
chr1	GH01I220689	220689719	220692566	2.2	[{'connected_gene': 'C1orf115', 'score': 572.15}, {'connected_gene': 'MARC1', 'score': 6.46}, {'connected_gene': 'MARC2', 'score': 0.22}, {'connected_gene': 'GC01M220652', 'score': 0.04}]
chr1	GH01I220760	220760842	220763436	0.59	[{'connected_gene': 'C1orf115', 'score': 18.66}, {'connected_gene': 'MARC1', 'score': 10.3}, {'connected_gene': 'MARC2', 'score': 4.49}, {'connected_gene': 'GC01M220652', 'score': 0.05}]
chr1	GH01I220777	220777801	220778800	0.2	[{'connected_gene': 'C1orf115', 'score': 23.45}, {'connected_gene': 'MARC2', 'score': 12.03}, {'connected_gene': 'MARC1', 'score': 0.44}, {'connected_gene': 'GC01M220652', 'score': 0.05}]
chr1	GH01I220711	220711559	220711648	0.62	[{'connected_gene': 'C1orf115', 'score': 12.53}, {'connected_gene': 'MARC2', 'score': 0.28}, {'connected_gene': 'GC01M220652', 'score': 0.05}]
chr1	GH01I220709	220709139	220709288	0.38	[{'connected_gene': 'C1orf115', 'score': 10.45}, {'connected_gene': 'MARC2', 'score': 0.28}, {'connected_gene': 'GC01M220652', 'score': 0.05}]
chr1	GH01I220770	220770133	220771037	0.59	[{'connected_gene': 'MARC1', 'score': 16.0}, {'connected_gene': 'C1orf115', 'score': 11.37}, {'connected_gene': 'MARC2', 'score': 0.34}, {'connected_gene': 'GC01M220652', 'score': 0.05}]
chr1	GH01I220789	220789601	220790600	0.72	[{'connected_gene': 'MARC1', 'score': 16.09}, {'connected_gene': 'MARC2', 'score': 10.92}, {'connected_gene': 'RNU6ATAC35P', 'score': 0.28}, {'connected_gene': 'GC01M220652', 'score': 0.06}]
chr1	GH01I220791	220791001	220791800	0.38	[{'connected_gene': 'MARC1', 'score': 12.35}, {'connected_gene': 'MARC2', 'score': 10.92}, {'connected_gene': 'RNU6ATAC35P', 'score': 0.29}, {'connected_gene': 'GC01M220652', 'score': 0.06}]
chr1	GH01I220792	220792001	220792200	0.38	[{'connected_gene': 'MARC1', 'score': 15.56}, {'connected_gene': 'MARC2', 'score': 10.92}, {'connected_gene': 'RNU6ATAC35P', 'score': 0.29}, {'connected_gene': 'GC01M220652', 'score': 0.05}]
chr1	GH01I220695	220695459	220695520	0.25	[{'connected_gene': 'MARC2', 'score': 16.71}, {'connected_gene': 'C1orf115', 'score': 12.97}, {'connected_gene': 'MARC1', 'score': 1.46}, {'connected_gene': 'GC01M220652', 'score': 0.04}]
chr1	GH01I220746	220746754	220751987	2.18	[{'connected_gene': 'MARC2', 'score': 550.77}, {'connected_gene': 'C1orf115', 'score': 11.2}, {'connected_gene': 'MARC1', 'score': 9.35}, {'connected_gene': 'GC01M220652', 'score': 0.05}]
chr1	GH01I220698	220698779	220698928	0.77	[{'connected_gene': 'MARC2', 'score': 10.31}, {'connected_gene': 'C1orf115', 'score': 0.44}, {'connected_gene': 'GC01M220652', 'score': 0.05}]
chr1	GH01I220818	220818059	220819911	0.69	[{'connected_gene': 'HLX', 'score': 10.49}, {'connected_gene': 'MARC2', 'score': 9.68}, {'connected_gene': 'RNU6ATAC35P', 'score': 6.89}, {'connected_gene': 'HLX-AS1', 'score': 5.33}, {'connected_gene': 'MARC1', 'score': 0.29}, {'connected_gene': 'GC01M220652', 'score': 0.06}]
chr1	GH01I221706	221706701	221714198	1.78	[{'connected_gene': 'LOC105372945', 'score': 550.77}, {'connected_gene': 'DUSP10', 'score': 37.0}, {'connected_gene': 'HHIPL2', 'score': 4.57}, {'connected_gene': 'MARC2', 'score': 4.39}, {'connected_gene': 'GC01P221677', 'score': 0.29}]