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
ENST00000370752	[[134654583, 134655028], [134655165, 134655243], [134679347, 134679497], [134680304, 134680394], [134680626, 134680810], [134681061, 134681190], [134683566, 134683730], [134685918, 134686071], [134690092, 134690225], [134703261, 134703356], [134706739, 134706958], [134707863, 134707987], [134709008, 134709151], [134711117, 134711352], [134713712, 134714087], [134714974, 134715068], [134715452, 134716434]]	[[134654917, 134655028], [134655165, 134655243], [134679347, 134679497], [134680304, 134680394], [134680626, 134680810], [134681061, 134681190], [134683566, 134683730], [134685918, 134686071], [134690092, 134690225], [134703261, 134703356], [134706739, 134706958], [134707863, 134707987], [134709008, 134709151], [134711117, 134711352], [134713712, 134714087], [134714974, 134715068], [134715452, 134715561]]
ENST00000481908	[[134654583, 134655028], [134655165, 134655243], [134679347, 134679497], [134680304, 134680394], [134680626, 134680810], [134681061, 134681190], [134683566, 134683730], [134685918, 134686071], [134703261, 134703356], [134706739, 134706958], [134707863, 134707987], [134709008, 134709151], [134711117, 134711220], [134713712, 134714087], [134714974, 134715068], [134715452, 134716434]]	None
ENST00000493637	[[134654917, 134655028], [134655165, 134655243], [134679347, 134679497], [134680304, 134680394], [134680626, 134680810], [134681061, 134681190], [134683566, 134683730], [134685918, 134686071], [134690092, 134690225], [134703261, 134706958], [134707863, 134707987], [134709008, 134709151], [134711117, 134711220], [134713712, 134714087], [134714974, 134715068], [134715452, 134716434]]	None
ENST00000494957	[[134713809, 134714087], [134714974, 134715068], [134715452, 134715489], [134716165, 134716435]]	None
ENST00000481429	[[134713861, 134714087], [134714974, 134715068], [134715452, 134715556], [134716165, 134716427]]	None
NM_182540	[[134654554, 134655028], [134655165, 134655243], [134679347, 134679497], [134680304, 134680394], [134680626, 134680810], [134681061, 134681190], [134683566, 134683730], [134685918, 134686071], [134690092, 134690225], [134703261, 134703356], [134706739, 134706958], [134707863, 134707987], [134709008, 134709151], [134711117, 134711352], [134713712, 134714087], [134714974, 134715068], [134715452, 134716460]]	[[134654917, 134655028], [134655165, 134655243], [134679347, 134679497], [134680304, 134680394], [134680626, 134680810], [134681061, 134681190], [134683566, 134683730], [134685918, 134686071], [134690092, 134690225], [134703261, 134703356], [134706739, 134706958], [134707863, 134707987], [134709008, 134709151], [134711117, 134711352], [134713712, 134714087], [134714974, 134715068], [134715452, 134715561]]

Promoter

Chrom	Start	End	Description
chrX	134654521	134654532	CAGE_peak_4_at_DDX26B_5end
chrX	134654540	134654591	CAGE_peak_1_at_DDX26B_5end
chrX	134654623	134654634	CAGE_peak_3_at_DDX26B_5end
chrX	134654690	134654751	CAGE_peak_2_at_DDX26B_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chrX	GH0XI134684	134684043	134686735	0.66	[{'connected_gene': 'ZNF75D', 'score': 13.64}, {'connected_gene': 'FAM122B', 'score': 10.5}, {'connected_gene': 'INTS6L', 'score': 10.3}, {'connected_gene': 'PHF6', 'score': 10.07}, {'connected_gene': 'GC0XP134651', 'score': 0.29}, {'connected_gene': 'GC0XM134761', 'score': 0.19}, {'connected_gene': 'RNU4-44P', 'score': 0.19}, {'connected_gene': 'PLAC1', 'score': 0.18}]
chrX	GH0XI134913	134913819	134915921	2.16	[{'connected_gene': 'MOSPD1', 'score': 552.62}, {'connected_gene': 'ZNF75D', 'score': 23.31}, {'connected_gene': 'INTS6L', 'score': 19.49}, {'connected_gene': 'FAM122B', 'score': 10.49}, {'connected_gene': 'PHF6', 'score': 10.04}, {'connected_gene': 'RTL8B', 'score': 4.23}, {'connected_gene': 'GC0XP134864', 'score': 0.23}]
chrX	GH0XI135519	135519505	135524507	2.03	[{'connected_gene': 'INTS6L', 'score': 556.68}, {'connected_gene': 'INTS6L-AS1', 'score': 550.77}, {'connected_gene': 'ZNF75D', 'score': 27.77}, {'connected_gene': 'PIR34853', 'score': 0.23}]
chrX	GH0XI135527	135527721	135528641	0.43	[{'connected_gene': 'INTS6L', 'score': 5.31}, {'connected_gene': 'INTS6L-AS1', 'score': 0.44}, {'connected_gene': 'PIR34853', 'score': 0.25}]
chrX	GH0XI135536	135536703	135537413	0.2	[{'connected_gene': 'INTS6L', 'score': 4.23}, {'connected_gene': 'INTS6L-AS1', 'score': 0.37}, {'connected_gene': 'PIR34853', 'score': 0.28}]
chrX	GH0XI135512	135512601	135512801	0.2	[{'connected_gene': 'INTS6L', 'score': 0.44}, {'connected_gene': 'LOC100130607', 'score': 0.25}]
chrX	GH0XI134795	134795691	134797904	1.96	[{'connected_gene': 'FAM122B', 'score': 563.99}, {'connected_gene': 'FAM122C', 'score': 555.26}, {'connected_gene': 'ZNF75D', 'score': 13.26}, {'connected_gene': 'RPL36AP54', 'score': 10.12}, {'connected_gene': 'INTS6L', 'score': 9.93}]
chrX	GH0XI135544	135544056	135544205	0.49	[{'connected_gene': 'INTS6L-AS1', 'score': 0.34}, {'connected_gene': 'INTS6L', 'score': 0.34}, {'connected_gene': 'PIR34853', 'score': 0.29}]
chrX	GH0XI135545	135544401	135544800	0.43	[{'connected_gene': 'INTS6L-AS1', 'score': 0.34}, {'connected_gene': 'INTS6L', 'score': 0.34}, {'connected_gene': 'PIR34853', 'score': 0.29}]