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
ENST00000509434	[[164031224, 164031442], [164058350, 164058402], [164061374, 164061489]]	[[164031427, 164031442], [164058350, 164058402], [164061374, 164061436]]
ENST00000422287	[[164047859, 164048267], [164054305, 164054408], [164058350, 164058402], [164061374, 164061535], [164066933, 164067016], [164069492, 164069586], [164085368, 164085543], [164087514, 164088042]]	[[164048130, 164048267], [164054305, 164054408], [164058350, 164058402], [164061374, 164061535], [164066933, 164067016], [164069492, 164069586], [164085368, 164085543], [164087514, 164087879]]
ENST00000274054	[[164049820, 164050500], [164054305, 164054408], [164058350, 164058402], [164061374, 164061535], [164066933, 164067016], [164069492, 164069586], [164085368, 164085543], [164087514, 164088073]]	[[164050048, 164050500], [164054305, 164054408], [164058350, 164058402], [164061374, 164061535], [164066933, 164067016], [164069492, 164069586], [164085368, 164085543], [164087514, 164087879]]
ENST00000509884	[[164050271, 164050500], [164054305, 164054794]]	None
ENST00000509232	[[164056177, 164057472], [164058350, 164058402], [164061374, 164061535], [164066933, 164067016], [164069492, 164069586], [164085368, 164085543], [164087514, 164087983]]	None
ENST00000502973	[[164078115, 164078606], [164079376, 164079479], [164085368, 164085543], [164087514, 164087904]]	None
NM_001128931	[[164047859, 164048267], [164054305, 164054408], [164058350, 164058402], [164061374, 164061535], [164066933, 164067016], [164069492, 164069586], [164085368, 164085543], [164087514, 164088073]]	[[164048130, 164048267], [164054305, 164054408], [164058350, 164058402], [164061374, 164061535], [164066933, 164067016], [164069492, 164069586], [164085368, 164085543], [164087514, 164087879]]
NM_138386	[[164049820, 164050500], [164054305, 164054408], [164058350, 164058402], [164061374, 164061535], [164066933, 164067016], [164069492, 164069586], [164085368, 164085543], [164087514, 164088073]]	[[164050048, 164050500], [164054305, 164054408], [164058350, 164058402], [164061374, 164061535], [164066933, 164067016], [164069492, 164069586], [164085368, 164085543], [164087514, 164087879]]

Promoter

Chrom	Start	End	Description
chr4	164087945	164087959	CAGE_peak_2_at_NAF1_5end
chr4	164087974	164088088	CAGE_peak_1_at_NAF1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr4	GH04I163160	163160475	163162815	0.69	[{'connected_gene': 'NAF1', 'score': 7.19}, {'connected_gene': 'LOC101928081', 'score': 0.22}]
chr4	GH04I163156	163156532	163158490	0.31	[{'connected_gene': 'NAF1', 'score': 0.44}, {'connected_gene': 'LOC101928081', 'score': 0.23}]
chr4	GH04I163164	163164642	163167752	2.32	[{'connected_gene': 'NAF1', 'score': 578.67}, {'connected_gene': 'LOC101928081', 'score': 0.21}]
chr4	GH04I163571	163571051	163571276	0.22	[{'connected_gene': 'TKTL2', 'score': 10.35}, {'connected_gene': 'MARCH1', 'score': 6.15}, {'connected_gene': 'NAF1', 'score': 4.08}, {'connected_gene': 'ENSG00000273449', 'score': 0.26}, {'connected_gene': 'PIR37872', 'score': 0.07}]
chr4	GH04I163607	163607009	163607198	0.77	[{'connected_gene': 'MARCH1', 'score': 2.8}, {'connected_gene': 'NAF1', 'score': 2.2}, {'connected_gene': 'ENSG00000273449', 'score': 0.18}, {'connected_gene': 'PIR37872', 'score': 0.08}]
chr4	GH04I163165	163164201	163164400	0.43	[{'connected_gene': 'LOC101928081', 'score': 7.28}, {'connected_gene': 'NAF1', 'score': 0.77}]