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

Promoter

Chrom	Start	End	Description
chr11	18610214	18610239	CAGE_peak_1_at_UEVLD_5end
chr11	18610246	18610272	CAGE_peak_2_at_UEVLD_5end
chr11	18610275	18610287	CAGE_peak_3_at_UEVLD_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr11	GH11I018587	18587085	18591861	2.04	[{'connected_gene': 'UEVLD', 'score': 550.77}, {'connected_gene': 'SPTY2D1OS', 'score': 550.77}, {'connected_gene': 'SPTY2D1', 'score': 24.07}, {'connected_gene': 'LDHC', 'score': 20.35}, {'connected_gene': 'TSG101', 'score': 19.06}, {'connected_gene': 'SAAL1', 'score': 18.83}, {'connected_gene': 'GTF2H1', 'score': 15.34}, {'connected_gene': 'LOC100129966', 'score': 12.4}, {'connected_gene': 'ENSG00000256361', 'score': 9.89}, {'connected_gene': 'SERGEF', 'score': 4.8}, {'connected_gene': 'GC11M018587', 'score': 0.77}]
chr11	GH11I018578	18578696	18579959	1.57	[{'connected_gene': 'UEVLD', 'score': 550.44}, {'connected_gene': 'LOC100129966', 'score': 12.12}, {'connected_gene': 'SPTY2D1', 'score': 11.28}, {'connected_gene': 'TMEM86A', 'score': 10.43}, {'connected_gene': 'LOC105376579', 'score': 10.08}, {'connected_gene': 'IGSF22', 'score': 10.06}, {'connected_gene': 'TSG101', 'score': 9.66}, {'connected_gene': 'SERGEF', 'score': 9.34}, {'connected_gene': 'SPTY2D1OS', 'score': 0.44}, {'connected_gene': 'ENSG00000274589', 'score': 0.26}]
chr11	GH11I018697	18697320	18701225	1.92	[{'connected_gene': 'TMEM86A', 'score': 558.1}, {'connected_gene': 'PIR46171', 'score': 550.77}, {'connected_gene': 'GTF2H1', 'score': 22.62}, {'connected_gene': 'SPTY2D1', 'score': 20.6}, {'connected_gene': 'SAAL1', 'score': 17.32}, {'connected_gene': 'HPS5', 'score': 8.84}, {'connected_gene': 'IGSF22', 'score': 5.88}, {'connected_gene': 'LOC105376579', 'score': 5.83}, {'connected_gene': 'YWHABP2', 'score': 5.06}, {'connected_gene': 'UEVLD', 'score': 4.79}]
chr11	GH11I018617	18617346	18619048	0.72	[{'connected_gene': 'SPTY2D1', 'score': 33.02}, {'connected_gene': 'LOC105376579', 'score': 9.99}, {'connected_gene': 'IGSF22', 'score': 9.96}, {'connected_gene': 'LDHA', 'score': 9.62}, {'connected_gene': 'UEVLD', 'score': 5.5}, {'connected_gene': 'ENSG00000279837', 'score': 0.37}]
chr11	GH11I018608	18608076	18609203	0.46	[{'connected_gene': 'SPTY2D1', 'score': 11.46}, {'connected_gene': 'LOC105376579', 'score': 9.78}, {'connected_gene': 'IGSF22', 'score': 9.75}, {'connected_gene': 'HPS5', 'score': 9.49}, {'connected_gene': 'GTF2H1', 'score': 9.49}, {'connected_gene': 'UEVLD', 'score': 5.53}, {'connected_gene': 'ENSG00000279837', 'score': 0.44}, {'connected_gene': 'SPTY2D1OS', 'score': 0.37}]
chr11	GH11I018633	18633100	18635392	2.05	[{'connected_gene': 'SPTY2D1', 'score': 589.92}, {'connected_gene': 'GC11P018635', 'score': 550.77}, {'connected_gene': 'LOC105376578', 'score': 550.77}, {'connected_gene': 'LDHC', 'score': 5.75}, {'connected_gene': 'YWHABP2', 'score': 5.62}, {'connected_gene': 'UEVLD', 'score': 5.44}, {'connected_gene': 'TSG101', 'score': 4.89}, {'connected_gene': 'ENSG00000279837', 'score': 0.29}]
chr11	GH11I018101	18101278	18101473	0.44	[{'connected_gene': 'MRGPRX3', 'score': 27.01}, {'connected_gene': 'SAAL1', 'score': 24.03}, {'connected_gene': 'HPS5', 'score': 5.46}, {'connected_gene': 'TSG101', 'score': 4.48}, {'connected_gene': 'GTF2H1', 'score': 2.68}, {'connected_gene': 'UEVLD', 'score': 1.12}, {'connected_gene': 'GC11P018102', 'score': 0.77}]
chr11	GH11I018540	18540354	18540503	0.63	[{'connected_gene': 'ENSG00000274589', 'score': 550.77}, {'connected_gene': 'UEVLD', 'score': 0.25}, {'connected_gene': 'SPTY2D1OS', 'score': 0.25}]

Transcript ID	Transcript exon region	Coding exon region
ENST00000396197	[[18551155, 18554034], [18555876, 18556000], [18557952, 18558016], [18566169, 18566343], [18568426, 18568597], [18579774, 18579877], [18586438, 18586557], [18587893, 18588029], [18591760, 18591924], [18596893, 18596959], [18600270, 18600355], [18610159, 18610230]]	[[18553866, 18554034], [18555876, 18556000], [18557952, 18558016], [18566169, 18566343], [18568426, 18568597], [18579774, 18579877], [18586438, 18586557], [18587893, 18588029], [18591760, 18591924], [18596893, 18596959], [18600270, 18600355], [18610159, 18610201]]
ENST00000543987	[[18552747, 18554034], [18557952, 18558016], [18566169, 18566343], [18568426, 18568597], [18579774, 18579877], [18586438, 18586557], [18587893, 18588029], [18591760, 18591924], [18596893, 18596959], [18600270, 18600355], [18610159, 18610293]]	[[18554018, 18554034], [18557952, 18558016], [18566169, 18566343], [18568426, 18568597], [18579774, 18579877], [18586438, 18586557], [18587893, 18588029], [18591760, 18591924], [18596893, 18596959], [18600270, 18600355], [18610159, 18610201]]
ENST00000540666	[[18553223, 18554034], [18555876, 18556000], [18557952, 18558016], [18566169, 18566343], [18568426, 18568597], [18579774, 18579877], [18586438, 18586557], [18587893, 18588029], [18596893, 18596959], [18610159, 18610221]]	None
ENST00000535484	[[18553244, 18554034], [18557952, 18558016], [18566169, 18566343], [18568426, 18568597], [18579774, 18579877], [18586438, 18586557], [18587893, 18588029], [18591760, 18591924], [18596893, 18596959], [18600270, 18600355], [18600974, 18601065]]	[[18554018, 18554034], [18557952, 18558016], [18566169, 18566343], [18568426, 18568597], [18579774, 18579877], [18586438, 18586557], [18587893, 18588029], [18591760, 18591924], [18596893, 18596959], [18600270, 18600283]]
ENST00000320750	[[18553325, 18554034], [18557952, 18558016], [18566169, 18566343], [18568426, 18568597], [18579774, 18579877], [18586438, 18586557], [18587893, 18588029], [18591760, 18591924], [18600270, 18600355], [18610159, 18610233]]	[[18554018, 18554034], [18557952, 18558016], [18566169, 18566343], [18568426, 18568597], [18579774, 18579877], [18586438, 18586557], [18587893, 18588029], [18591760, 18591924], [18600270, 18600355], [18610159, 18610201]]
ENST00000379387	[[18553420, 18554034], [18555876, 18556000], [18557952, 18558016], [18566169, 18566343], [18568426, 18568597], [18579774, 18579877], [18586438, 18586557], [18587893, 18588029], [18591760, 18591924], [18600270, 18600355], [18610159, 18610253]]	[[18553866, 18554034], [18555876, 18556000], [18557952, 18558016], [18566169, 18566343], [18568426, 18568597], [18579774, 18579877], [18586438, 18586557], [18587893, 18588029], [18591760, 18591924], [18600270, 18600355], [18610159, 18610201]]
ENST00000396196	[[18553827, 18554034], [18555876, 18556000], [18557952, 18558016], [18566169, 18566343], [18568426, 18568597], [18579774, 18579877], [18586438, 18586557], [18587893, 18588029], [18596893, 18596959], [18600270, 18600355], [18610159, 18610264]]	[[18588024, 18588029], [18596893, 18596959], [18600270, 18600355], [18610159, 18610201]]
ENST00000541984	[[18553931, 18554034], [18566169, 18566343], [18579774, 18579877], [18586438, 18586557], [18596893, 18596959], [18600270, 18600355], [18610159, 18610264]]	[[18554023, 18554034], [18566169, 18566343], [18579774, 18579877], [18586438, 18586557], [18596893, 18596959], [18600270, 18600355], [18610159, 18610201]]
ENST00000539569	[[18553952, 18554034], [18555876, 18556000], [18557952, 18558311]]	None
ENST00000300038	[[18585192, 18585548], [18586438, 18586557], [18587893, 18588029], [18591760, 18591924], [18596893, 18596959], [18600270, 18600355], [18610159, 18610228]]	[[18585512, 18585548], [18586438, 18586557], [18587893, 18588029], [18591760, 18591924], [18596893, 18596959], [18600270, 18600355], [18610159, 18610201]]
ENST00000540917	[[18586441, 18586557], [18587893, 18588029], [18591760, 18591924], [18596893, 18596959], [18610159, 18610228]]	None
ENST00000535340	[[18591444, 18591924], [18596893, 18596959], [18600270, 18600355], [18610159, 18610252]]	None
ENST00000490736	[[18591891, 18591924], [18592167, 18592285], [18596893, 18596959], [18600270, 18600355], [18609223, 18609342], [18610159, 18610294]]	None
NM_001261385	[[18552949, 18554034], [18557952, 18558016], [18566169, 18566343], [18568426, 18568597], [18579774, 18579877], [18586438, 18586557], [18587893, 18588029], [18591760, 18591924], [18596893, 18596959], [18600270, 18600355], [18600974, 18601065]]	[[18554018, 18554034], [18557952, 18558016], [18566169, 18566343], [18568426, 18568597], [18579774, 18579877], [18586438, 18586557], [18587893, 18588029], [18591760, 18591924], [18596893, 18596959], [18600270, 18600283]]
NM_001040697	[[18552949, 18554034], [18555876, 18556000], [18557952, 18558016], [18566169, 18566343], [18568426, 18568597], [18579774, 18579877], [18586438, 18586557], [18587893, 18588029], [18591760, 18591924], [18596893, 18596959], [18600270, 18600355], [18610159, 18610293]]	[[18553866, 18554034], [18555876, 18556000], [18557952, 18558016], [18566169, 18566343], [18568426, 18568597], [18579774, 18579877], [18586438, 18586557], [18587893, 18588029], [18591760, 18591924], [18596893, 18596959], [18600270, 18600355], [18610159, 18610201]]
NM_018314	[[18552949, 18554034], [18557952, 18558016], [18566169, 18566343], [18568426, 18568597], [18579774, 18579877], [18586438, 18586557], [18587893, 18588029], [18591760, 18591924], [18596893, 18596959], [18600270, 18600355], [18610159, 18610293]]	[[18554018, 18554034], [18557952, 18558016], [18566169, 18566343], [18568426, 18568597], [18579774, 18579877], [18586438, 18586557], [18587893, 18588029], [18591760, 18591924], [18596893, 18596959], [18600270, 18600355], [18610159, 18610201]]
NM_001261386	[[18552949, 18554034], [18566169, 18566343], [18579774, 18579877], [18586438, 18586557], [18596893, 18596959], [18600270, 18600355], [18610159, 18610293]]	[[18554023, 18554034], [18566169, 18566343], [18579774, 18579877], [18586438, 18586557], [18596893, 18596959], [18600270, 18600355], [18610159, 18610201]]
NM_001261382	[[18552949, 18554034], [18555876, 18556000], [18557952, 18558016], [18566169, 18566343], [18568426, 18568597], [18579774, 18579877], [18586438, 18586557], [18587893, 18588029], [18591760, 18591924], [18600270, 18600355], [18610159, 18610293]]	[[18553866, 18554034], [18555876, 18556000], [18557952, 18558016], [18566169, 18566343], [18568426, 18568597], [18579774, 18579877], [18586438, 18586557], [18587893, 18588029], [18591760, 18591924], [18600270, 18600355], [18610159, 18610201]]
NM_001261383	[[18552949, 18554034], [18557952, 18558016], [18566169, 18566343], [18568426, 18568597], [18579774, 18579877], [18586438, 18586557], [18587893, 18588029], [18591760, 18591924], [18600270, 18600355], [18610159, 18610293]]	[[18554018, 18554034], [18557952, 18558016], [18566169, 18566343], [18568426, 18568597], [18579774, 18579877], [18586438, 18586557], [18587893, 18588029], [18591760, 18591924], [18600270, 18600355], [18610159, 18610201]]
NM_001261384	[[18552949, 18554034], [18555876, 18556000], [18557952, 18558016], [18566169, 18566343], [18568426, 18568597], [18579774, 18579877], [18586438, 18586557], [18587893, 18588029], [18596893, 18596959], [18610159, 18610293]]	[[18553866, 18554034], [18555876, 18556000], [18557952, 18558016], [18566169, 18566343], [18568426, 18568597], [18579774, 18579877], [18586438, 18586557], [18587893, 18587996]]
NM_001297771	[[18585196, 18585548], [18586438, 18586557], [18587893, 18588029], [18591760, 18591924], [18596893, 18596959], [18600270, 18600355], [18610159, 18610293]]	[[18585512, 18585548], [18586438, 18586557], [18587893, 18588029], [18591760, 18591924], [18596893, 18596959], [18600270, 18600355], [18610159, 18610201]]