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
ENST00000394650	[[110481360, 110481592], [110580166, 110580242], [110581350, 110581521], [110585445, 110585550], [110603737, 110603898], [110605598, 110605802], [110606406, 110606523], [110608670, 110609874]]	[[110481493, 110481592], [110580166, 110580242], [110581350, 110581521], [110585445, 110585550], [110603737, 110603898], [110605598, 110605802], [110606406, 110606523], [110608670, 110608748]]
ENST00000472310	[[110481364, 110481592], [110580166, 110580242], [110581350, 110581521], [110585445, 110585550], [110603737, 110604350]]	None
ENST00000515114	[[110481367, 110481592], [110580166, 110580242], [110581350, 110581502]]	None
ENST00000452915	[[110482145, 110482173], [110569639, 110569805], [110580166, 110580242], [110581350, 110581521], [110585445, 110585550], [110602590, 110602625]]	[[110569769, 110569805], [110580166, 110580242], [110581350, 110581521], [110585445, 110585550], [110602590, 110602625]]
ENST00000494604	[[110605595, 110606523], [110608670, 110608872]]	None
NM_017918	[[110481354, 110481592], [110580166, 110580242], [110581350, 110581521], [110585445, 110585550], [110603737, 110603898], [110605598, 110605802], [110606406, 110606523], [110608670, 110608872]]	[[110481493, 110481592], [110580166, 110580242], [110581350, 110581521], [110585445, 110585550], [110603737, 110603898], [110605598, 110605802], [110606406, 110606523], [110608670, 110608748]]

Promoter

Chrom	Start	End	Description
chr4	110481328	110481333	CAGE_peak_5_at_CCDC109B_5end
chr4	110481348	110481368	CAGE_peak_2_at_CCDC109B_5end
chr4	110481374	110481458	CAGE_peak_1_at_CCDC109B_5end
chr4	110481461	110481471	CAGE_peak_4_at_CCDC109B_5end
chr4	110481490	110481492	CAGE_peak_6_at_CCDC109B_5end
chr4	110481496	110481512	CAGE_peak_3_at_CCDC109B_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
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	GH04I109622	109622241	109623892	0.38	[{'connected_gene': 'PLA2G12A', 'score': 21.81}, {'connected_gene': 'HIGD1AP14', 'score': 0.23}, {'connected_gene': 'GC04P109564', 'score': 0.22}, {'connected_gene': 'MCUB', 'score': 0.21}]
chr4	GH04I109574	109574125	109574844	0.77	[{'connected_gene': 'MCUB', 'score': 5.34}, {'connected_gene': 'GC04P109564', 'score': 0.39}, {'connected_gene': 'HIGD1AP14', 'score': 0.15}]
chr4	GH04I109548	109548081	109549518	0.93	[{'connected_gene': 'CFI', 'score': 10.51}, {'connected_gene': 'MCUB', 'score': 7.78}, {'connected_gene': 'RBMXP4', 'score': 7.17}, {'connected_gene': 'SEC24B', 'score': 1.45}, {'connected_gene': 'SETP20', 'score': 0.44}, {'connected_gene': 'MIR576', 'score': 0.21}]
chr4	GH04I109631	109631601	109631801	0.38	[{'connected_gene': 'HIGD1AP14', 'score': 0.26}, {'connected_gene': 'GC04P109564', 'score': 0.2}, {'connected_gene': 'MCUB', 'score': 0.19}]
chr4	GH04I109589	109589205	109589414	0.46	[{'connected_gene': 'GC04P109564', 'score': 0.31}, {'connected_gene': 'MCUB', 'score': 0.31}, {'connected_gene': 'HIGD1AP14', 'score': 0.18}]
chr4	GH04I109576	109576605	109576754	0.69	[{'connected_gene': 'GC04P109564', 'score': 0.39}, {'connected_gene': 'MCUB', 'score': 0.37}, {'connected_gene': 'HIGD1AP14', 'score': 0.15}]
chr4	GH04I109559	109559145	109561888	1.98	[{'connected_gene': 'GC04M109557', 'score': 550.77}, {'connected_gene': 'MCUB', 'score': 550.77}, {'connected_gene': 'SEC24B-AS1', 'score': 16.5}, {'connected_gene': 'SEC24B', 'score': 14.71}, {'connected_gene': 'SETP20', 'score': 11.41}, {'connected_gene': 'CDC42P4', 'score': 10.73}, {'connected_gene': 'PIR49237', 'score': 0.77}]