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
ENST00000352981	[[110609784, 110610724], [110612005, 110612165], [110615680, 110615856], [110624511, 110624575]]	[[110610485, 110610724], [110612005, 110612165], [110615680, 110615856], [110624511, 110624551]]
ENST00000265164	[[110609897, 110610724], [110612005, 110612165], [110615680, 110615856], [110617565, 110617642], [110618777, 110618924], [110619455, 110619498], [110624511, 110624629]]	[[110610485, 110610724], [110612005, 110612165], [110615680, 110615856], [110617565, 110617642], [110618777, 110618924], [110619455, 110619498], [110624511, 110624551]]
ENST00000507550	[[110610057, 110610724], [110612005, 110612165], [110615680, 110615745]]	None
ENST00000505117	[[110610372, 110610724], [110612005, 110612165], [110615680, 110615856], [110617565, 110617651]]	None
ENST00000510324	[[110610418, 110610724], [110612005, 110612165], [110615680, 110615857]]	None
ENST00000508203	[[110612033, 110612165], [110615680, 110615856], [110617565, 110617642], [110618777, 110618935]]	None
ENST00000503684	[[110615679, 110615856], [110617565, 110617642], [110618777, 110618924], [110619455, 110619498], [110623862, 110624005]]	[[110615679, 110615856], [110617565, 110617642], [110618777, 110618924], [110619455, 110619484]]
ENST00000505486	[[110615736, 110615856], [110618777, 110618924], [110619455, 110619498], [110624511, 110624739]]	[[110615843, 110615856], [110618777, 110618924], [110619455, 110619498], [110624511, 110624551]]
NM_001226	[[110609784, 110610724], [110612005, 110612165], [110615680, 110615856], [110617565, 110617642], [110618777, 110618924], [110619455, 110619498], [110624511, 110624629]]	[[110610485, 110610724], [110612005, 110612165], [110615680, 110615856], [110617565, 110617642], [110618777, 110618924], [110619455, 110619498], [110624511, 110624551]]
NR_133012	[[110609784, 110610724], [110612005, 110612165], [110615680, 110615856], [110618777, 110618924], [110619455, 110619498], [110624511, 110624629]]	None
NM_032992	[[110609784, 110610724], [110612005, 110612165], [110615680, 110615856], [110624511, 110624629]]	[[110610485, 110610724], [110612005, 110612165], [110615680, 110615856], [110624511, 110624551]]

Promoter

Chrom	Start	End	Description
chr4	110624564	110624608	CAGE_peak_1_at_CASP6_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr4	GH04I109701	109701200	109704844	2.42	[{'connected_gene': 'CASP6', 'score': 554.6}, {'connected_gene': 'PLA2G12A', 'score': 20.03}, {'connected_gene': 'RBMXP4', 'score': 4.52}, {'connected_gene': 'LRIT3', 'score': 2.49}, {'connected_gene': 'GC04M109692', 'score': 0.77}, {'connected_gene': 'GC04M109713', 'score': 0.44}]
chr4	GH04I109713	109713066	109714911	0.31	[{'connected_gene': 'CASP6', 'score': 550.77}, {'connected_gene': 'GC04M109713', 'score': 550.77}, {'connected_gene': 'CFI', 'score': 11.64}, {'connected_gene': 'PLA2G12A', 'score': 0.37}]
chr4	GH04I109648	109648305	109650997	0.57	[{'connected_gene': 'PLA2G12A', 'score': 24.02}, {'connected_gene': 'CASP6', 'score': 5.23}, {'connected_gene': 'HIGD1AP14', 'score': 0.34}, {'connected_gene': 'GC04P109564', 'score': 0.17}, {'connected_gene': 'MCUB', 'score': 0.17}]
chr4	GH04I109727	109727647	109731859	2.18	[{'connected_gene': 'PLA2G12A', 'score': 572.42}, {'connected_gene': 'SEC24B-AS1', 'score': 12.96}, {'connected_gene': 'CFI', 'score': 10.66}, {'connected_gene': 'GAR1', 'score': 10.19}, {'connected_gene': 'CASP6', 'score': 4.48}]
chr4	GH04I110192	110192876	110199852	2.62	[{'connected_gene': 'ELOVL6', 'score': 554.87}, {'connected_gene': 'SEC24B', 'score': 22.52}, {'connected_gene': 'GAR1', 'score': 20.72}, {'connected_gene': 'SETP20', 'score': 18.76}, {'connected_gene': 'CDC42P4', 'score': 13.01}, {'connected_gene': 'CASP6', 'score': 10.05}, {'connected_gene': 'ENSG00000250511', 'score': 9.83}, {'connected_gene': 'ENSG00000248200', 'score': 0.25}]
chr4	GH04I109814	109814555	109817692	2.05	[{'connected_gene': 'GAR1', 'score': 558.08}, {'connected_gene': 'ENSG00000272795', 'score': 550.77}, {'connected_gene': 'SETP20', 'score': 18.79}, {'connected_gene': 'SEC24B', 'score': 14.02}, {'connected_gene': 'CDC42P4', 'score': 13.04}, {'connected_gene': 'CASP6', 'score': 10.16}, {'connected_gene': 'LRIT3', 'score': 7.71}, {'connected_gene': 'GC04M109825', 'score': 0.44}]
chr4	GH04I109422	109422382	109423000	0.99	[{'connected_gene': 'SEC24B', 'score': 16.29}, {'connected_gene': 'CDC42P4', 'score': 13.45}, {'connected_gene': 'SETP20', 'score': 11.83}, {'connected_gene': 'CASP6', 'score': 10.2}, {'connected_gene': 'GAR1', 'score': 10.11}, {'connected_gene': 'OSTC', 'score': 9.9}, {'connected_gene': 'PLA2G12A', 'score': 9.66}, {'connected_gene': 'LRIT3', 'score': 9.25}, {'connected_gene': 'SEC24B-AS1', 'score': 0.39}, {'connected_gene': 'PIR37678', 'score': 0.31}]
chr4	GH04I109698	109698935	109700457	0.63	[{'connected_gene': 'GC04M109692', 'score': 550.77}, {'connected_gene': 'PLA2G12A', 'score': 12.33}, {'connected_gene': 'GAR1', 'score': 11.33}, {'connected_gene': 'CASP6', 'score': 0.39}, {'connected_gene': 'GC04M109713', 'score': 0.39}]