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
ENST00000522766	[[110346552, 110346631], [110348356, 110348433], [110351548, 110351619], [110352672, 110352792], [110355633, 110355853]]	[[110348365, 110348433], [110351548, 110351619], [110352672, 110352689]]
ENST00000521662	[[110346552, 110346631], [110348356, 110348433], [110351548, 110351619], [110352717, 110352792], [110355633, 110355893]]	[[110348365, 110348433], [110351548, 110351619], [110352717, 110352792], [110355633, 110355710]]
ENST00000521688	[[110346552, 110346703], [110348356, 110348433], [110351548, 110351619], [110352717, 110352792], [110355633, 110358181]]	[[110346697, 110346703], [110348356, 110348433], [110351548, 110351619], [110352717, 110352792], [110355633, 110355710]]
ENST00000517311	[[110346554, 110346703], [110348356, 110348433], [110351548, 110351619], [110352672, 110352792], [110355633, 110358182]]	[[110346697, 110346703], [110348356, 110348433], [110351548, 110351619], [110352672, 110352689]]
ENST00000339942	[[110346567, 110346631], [110348361, 110348433], [110351548, 110351619], [110352719, 110352792], [110355633, 110355899]]	[[110348365, 110348433], [110351548, 110351619], [110352719, 110352727]]
ENST00000520147	[[110346572, 110346635], [110348356, 110348433], [110351548, 110351619], [110352717, 110352792], [110354918, 110355038], [110355633, 110356084]]	[[110348365, 110348433], [110351548, 110351619], [110352717, 110352792], [110354918, 110355007]]
ENST00000519754	[[110346574, 110346631], [110348356, 110348433], [110351548, 110351975]]	None
ENST00000522407	[[110346575, 110346703], [110351548, 110351619], [110352717, 110352792], [110355633, 110355900]]	None
ENST00000522632	[[110346577, 110346703], [110348356, 110348817]]	None
ENST00000523335	[[110346579, 110346703], [110348356, 110348433], [110351548, 110351619], [110352719, 110352792], [110355633, 110356828]]	[[110346697, 110346703], [110348356, 110348433], [110351548, 110351619], [110352719, 110352727]]
ENST00000517756	[[110346596, 110346703], [110348356, 110348433], [110355633, 110355894]]	None
ENST00000518584	[[110346605, 110346703], [110348356, 110348433], [110351548, 110351619], [110352717, 110353037]]	None
ENST00000517350	[[110346609, 110348433], [110351548, 110351619], [110352717, 110352792], [110355633, 110355813]]	None
ENST00000523707	[[110348154, 110348433], [110351548, 110351619], [110352672, 110352792], [110355633, 110355900]]	None
ENST00000521619	[[110350570, 110351619], [110352717, 110352792], [110355633, 110355893]]	None
ENST00000518118	[[110352593, 110352792], [110355633, 110358181]]	None
NM_001193557	[[110346551, 110346631], [110348356, 110348433], [110351548, 110351619], [110352717, 110352792], [110355633, 110358189]]	[[110348365, 110348433], [110351548, 110351619], [110352717, 110352792], [110355633, 110355710]]
NR_036471	[[110346551, 110346703], [110348356, 110348433], [110351548, 110351619], [110352719, 110352792], [110355633, 110358189]]	None
NM_020189	[[110346551, 110346703], [110348356, 110348433], [110351548, 110351619], [110352717, 110352792], [110355633, 110358189]]	[[110346697, 110346703], [110348356, 110348433], [110351548, 110351619], [110352717, 110352792], [110355633, 110355710]]
NR_036472	[[110346551, 110346703], [110348356, 110348433], [110351548, 110351619], [110352672, 110352792], [110355633, 110358189]]	None

Promoter

Chrom	Start	End	Description
chr8	110346546	110346619	CAGE_peak_1_at_ENY2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr8	GH08I108442	108442330	108445669	2.25	[{'connected_gene': 'EMC2', 'score': 567.61}, {'connected_gene': 'LOC105375704', 'score': 550.77}, {'connected_gene': 'EIF3E', 'score': 28.95}, {'connected_gene': 'NUDCD1', 'score': 17.82}, {'connected_gene': 'ENY2', 'score': 11.19}, {'connected_gene': 'RSPO2', 'score': 8.45}, {'connected_gene': 'GC08M108476', 'score': 0.26}]
chr8	GH08I109575	109575348	109576241	0.85	[{'connected_gene': 'NUDCD1', 'score': 22.01}, {'connected_gene': 'EBAG9', 'score': 18.29}, {'connected_gene': 'LOC100132813', 'score': 11.16}, {'connected_gene': 'SYBU', 'score': 11.08}, {'connected_gene': 'ENY2', 'score': 9.87}, {'connected_gene': 'GC08P109564', 'score': 0.39}]
chr8	GH08I109331	109331545	109335722	2.07	[{'connected_gene': 'NUDCD1', 'score': 565.56}, {'connected_gene': 'ENY2', 'score': 561.8}, {'connected_gene': 'PKHD1L1', 'score': 55.99}, {'connected_gene': 'ENSG00000250267', 'score': 0.28}]
chr8	GH08I109291	109291745	109294968	0.63	[{'connected_gene': 'NUDCD1', 'score': 14.98}, {'connected_gene': 'ENY2', 'score': 11.29}, {'connected_gene': 'LOC101927413', 'score': 10.43}, {'connected_gene': 'PKHD1L1', 'score': 7.79}, {'connected_gene': 'ENSG00000250267', 'score': 0.44}, {'connected_gene': 'GC08M109231', 'score': 0.21}]
chr8	GH08I109329	109329888	109329947	0.68	[{'connected_gene': 'NUDCD1', 'score': 550.77}, {'connected_gene': 'ENY2', 'score': 0.77}, {'connected_gene': 'ENSG00000250267', 'score': 0.29}]
chr8	GH08I109450	109450992	109451161	0.73	[{'connected_gene': 'ENY2', 'score': 10.19}, {'connected_gene': 'NUDCD1', 'score': 10.19}, {'connected_gene': 'MAPK6PS5', 'score': 0.37}, {'connected_gene': 'LOC100420748', 'score': 0.28}, {'connected_gene': 'PKHD1L1', 'score': 0.17}]
chr8	GH08I109325	109325952	109326101	0.65	[{'connected_gene': 'ENY2', 'score': 0.44}, {'connected_gene': 'NUDCD1', 'score': 0.44}, {'connected_gene': 'ENSG00000250267', 'score': 0.31}]
chr8	GH08I109552	109552080	109552440	0.59	[{'connected_gene': 'SYBU', 'score': 10.63}, {'connected_gene': 'ENY2', 'score': 10.55}, {'connected_gene': 'NUDCD1', 'score': 10.55}, {'connected_gene': 'LOC100132813', 'score': 10.42}, {'connected_gene': 'GC08P109564', 'score': 0.39}, {'connected_gene': 'EBAG9', 'score': 0.39}]
chr8	GH08I109570	109570719	109571798	0.43	[{'connected_gene': 'SYBU', 'score': 12.35}, {'connected_gene': 'LOC100132813', 'score': 10.87}, {'connected_gene': 'ENY2', 'score': 9.66}, {'connected_gene': 'NUDCD1', 'score': 9.66}, {'connected_gene': 'GC08P109564', 'score': 0.44}]
chr8	GH08I109574	109574452	109574601	0.2	[{'connected_gene': 'LOC100132813', 'score': 11.16}, {'connected_gene': 'SYBU', 'score': 11.08}, {'connected_gene': 'ENY2', 'score': 9.87}, {'connected_gene': 'NUDCD1', 'score': 9.87}, {'connected_gene': 'GC08P109564', 'score': 0.39}]
chr8	GH08I109576	109576908	109577422	1.05	[{'connected_gene': 'LOC100132813', 'score': 11.16}, {'connected_gene': 'SYBU', 'score': 11.09}, {'connected_gene': 'ENY2', 'score': 9.87}, {'connected_gene': 'NUDCD1', 'score': 9.87}, {'connected_gene': 'GC08P109564', 'score': 0.39}]
chr8	GH08I109579	109579032	109579181	0.4	[{'connected_gene': 'LOC100132813', 'score': 11.16}, {'connected_gene': 'SYBU', 'score': 11.09}, {'connected_gene': 'ENY2', 'score': 9.87}, {'connected_gene': 'NUDCD1', 'score': 9.87}, {'connected_gene': 'GC08P109564', 'score': 0.39}]