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
ENST00000295890	[[73921796, 73924004], [73927529, 73927637], [73930494, 73930616], [73930966, 73931130], [73933745, 73933846], [73935033, 73935458]]	[[73923830, 73924004], [73927529, 73927637], [73930494, 73930616], [73930966, 73931130], [73933745, 73933846], [73935033, 73935366]]
ENST00000449739	[[73921796, 73924004], [73927529, 73927637], [73930494, 73930616], [73930966, 73931130], [73935033, 73935458]]	[[73931073, 73931130], [73935033, 73935366]]
ENST00000507544	[[73923792, 73924004], [73927529, 73927637], [73930494, 73930619], [73930966, 73931130], [73933745, 73933846], [73935033, 73935409]]	[[73923830, 73924004], [73927529, 73927637], [73930494, 73930619], [73930966, 73931130], [73933745, 73933846], [73935033, 73935366]]
ENST00000510031	[[73923830, 73924004], [73927529, 73927637], [73930494, 73930616], [73930966, 73931130], [73933745, 73933850], [73935033, 73935443]]	[[73933799, 73933850], [73935033, 73935366]]
ENST00000421792	[[73934267, 73934376], [73935033, 73935472]]	None
NM_001297733	[[73920412, 73924004], [73927529, 73927637], [73930494, 73930616], [73930966, 73931130], [73933745, 73933850], [73935033, 73935476]]	[[73923830, 73924004], [73927529, 73927637], [73930494, 73930616], [73930966, 73931111]]
NM_001297732	[[73920412, 73924004], [73927529, 73927637], [73930494, 73930619], [73930966, 73931130], [73933745, 73933846], [73935033, 73935476]]	[[73923830, 73924004], [73927529, 73927637], [73930494, 73930619], [73930966, 73931130], [73933745, 73933846], [73935033, 73935366]]
NM_173827	[[73920412, 73924004], [73927529, 73927637], [73930494, 73930616], [73930966, 73931130], [73933745, 73933846], [73935033, 73935476]]	[[73923830, 73924004], [73927529, 73927637], [73930494, 73930616], [73930966, 73931130], [73933745, 73933846], [73935033, 73935366]]
NM_001300729	[[73920412, 73924004], [73927529, 73927637], [73930494, 73930616], [73930966, 73931130], [73935033, 73935476]]	[[73923830, 73924004], [73927529, 73927637], [73930494, 73930616], [73930966, 73931130], [73935033, 73935476]]

Promoter

Chrom	Start	End	Description
chr4	73935366	73935377	CAGE_peak_2_at_COX18_5end
chr4	73935413	73935481	CAGE_peak_1_at_COX18_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr4	GH04I073090	73090250	73093340	0.46	[{'connected_gene': 'COX18', 'score': 12.34}, {'connected_gene': 'ANKRD17', 'score': 10.64}, {'connected_gene': 'ENSG00000250220', 'score': 10.64}, {'connected_gene': 'ENSG00000221639', 'score': 10.63}, {'connected_gene': 'HMGA1P2', 'score': 0.44}]
chr4	GH04I073066	73066184	73071169	2.28	[{'connected_gene': 'COX18', 'score': 550.77}, {'connected_gene': 'ENSG00000221639', 'score': 10.68}, {'connected_gene': 'ANKRD17', 'score': 10.65}, {'connected_gene': 'ENSG00000250220', 'score': 10.65}, {'connected_gene': 'RNU6ATAC5P', 'score': 0.26}]
chr4	GH04I073075	73075659	73075980	0.72	[{'connected_gene': 'ENSG00000221639', 'score': 10.68}, {'connected_gene': 'COX18', 'score': 0.44}, {'connected_gene': 'HMGA1P2', 'score': 0.34}, {'connected_gene': 'ANKRD17', 'score': 0.09}]
chr4	GH04I073071	73071249	73072506	0.2	[{'connected_gene': 'ENSG00000221639', 'score': 10.68}, {'connected_gene': 'COX18', 'score': 0.77}, {'connected_gene': 'HMGA1P2', 'score': 0.31}]
chr4	GH04I073085	73085599	73086830	0.71	[{'connected_gene': 'ENSG00000221639', 'score': 10.94}, {'connected_gene': 'ANKRD17', 'score': 10.94}, {'connected_gene': 'ENSG00000250220', 'score': 10.94}, {'connected_gene': 'RNU6ATAC5P', 'score': 9.28}, {'connected_gene': 'HMGA1P2', 'score': 0.39}, {'connected_gene': 'COX18', 'score': 0.37}]