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
ENST00000263593	[[124503008, 124507098], [124508437, 124508633], [124509605, 124509763], [124517260, 124517394], [124517961, 124518071], [124519514, 124519692], [124524550, 124524689], [124530523, 124530699], [124539255, 124539417], [124543537, 124543777]]	[[124506846, 124507098], [124508437, 124508633], [124509605, 124509763], [124517260, 124517394], [124517961, 124518071], [124519514, 124519692], [124524550, 124524689], [124530523, 124530699], [124539255, 124539417], [124543537, 124543604]]
ENST00000545756	[[124505693, 124507098], [124508437, 124508633], [124509605, 124509763], [124517260, 124517394], [124517961, 124518071], [124519514, 124519692], [124524550, 124524689], [124530523, 124530699], [124539255, 124539417], [124543537, 124543763]]	[[124506846, 124507098], [124508437, 124508633], [124509605, 124509763], [124517260, 124517394], [124517961, 124518071], [124519514, 124519692], [124524550, 124524689], [124530523, 124530699], [124539255, 124539379]]
ENST00000533613	[[124524550, 124524689], [124530523, 124530699], [124539255, 124539508]]	None
ENST00000436137	[[124528769, 124530699], [124539255, 124539417], [124543537, 124543717]]	None
ENST00000525730	[[124539331, 124539417], [124545153, 124545298], [124564178, 124564417], [124565504, 124565603]]	None
NM_170601	[[124505684, 124507098], [124508437, 124508633], [124509605, 124509763], [124517260, 124517394], [124517961, 124518071], [124519514, 124519692], [124524550, 124524689], [124530523, 124530699], [124539255, 124539417], [124543537, 124543777]]	[[124506846, 124507098], [124508437, 124508633], [124509605, 124509763], [124517260, 124517394], [124517961, 124518071], [124519514, 124519692], [124524550, 124524689], [124530523, 124530699], [124539255, 124539417], [124543537, 124543604]]
NM_001199922	[[124505684, 124507098], [124508437, 124508633], [124509605, 124509763], [124517260, 124517394], [124517961, 124518071], [124519514, 124519692], [124524550, 124524689], [124530523, 124530699], [124539255, 124539417], [124545153, 124545298], [124545466, 124545573], [124546080, 124546199]]	[[124506846, 124507098], [124508437, 124508633], [124509605, 124509763], [124517260, 124517394], [124517961, 124518071], [124519514, 124519692], [124524550, 124524689], [124530523, 124530699], [124539255, 124539379]]

Promoter

Chrom	Start	End	Description
chr11	124539463	124539501	CAGE_peak_3_at_SIAE_5end
chr11	124543604	124543654	CAGE_peak_1_at_SIAE_5end
chr11	124543725	124543734	CAGE_peak_2_at_SIAE_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr11	GH11I124642	124642816	124645294	1.35	[{'connected_gene': 'ZNF202', 'score': 33.22}, {'connected_gene': 'MSANTD2', 'score': 28.67}, {'connected_gene': 'TMEM218', 'score': 25.22}, {'connected_gene': 'STT3A', 'score': 20.31}, {'connected_gene': 'ENSG00000254509', 'score': 14.26}, {'connected_gene': 'SPA17', 'score': 12.06}, {'connected_gene': 'OR8A1', 'score': 3.11}, {'connected_gene': 'OR8B4', 'score': 2.92}, {'connected_gene': 'OR8D1', 'score': 2.37}, {'connected_gene': 'OR8G1', 'score': 1.48}, {'connected_gene': 'OR8D2', 'score': 1.32}, {'connected_gene': 'OR8B12', 'score': 1.31}, {'connected_gene': 'OR8B8', 'score': 1.19}, {'connected_gene': 'RNA5SP352', 'score': 0.44}, {'connected_gene': 'SIAE', 'score': 0.23}]
chr11	GH11I124836	124836087	124838070	0.94	[{'connected_gene': 'ROBO3', 'score': 11.97}, {'connected_gene': 'MSANTD2', 'score': 11.93}, {'connected_gene': 'LOC100507283', 'score': 11.93}, {'connected_gene': 'SIAE', 'score': 11.35}, {'connected_gene': 'SPA17', 'score': 11.33}, {'connected_gene': 'ESAM', 'score': 11.0}, {'connected_gene': 'LOC101929340', 'score': 10.99}, {'connected_gene': 'VSIG2', 'score': 10.98}, {'connected_gene': 'ENSG00000255045', 'score': 10.97}, {'connected_gene': 'NRGN', 'score': 10.86}, {'connected_gene': 'ROBO4', 'score': 9.57}, {'connected_gene': 'CCDC15', 'score': 9.3}, {'connected_gene': 'GC11M124844', 'score': 0.44}, {'connected_gene': 'GC11M124812', 'score': 0.34}]
chr11	GH11I124717	124717269	124718600	1.29	[{'connected_gene': 'SPA17', 'score': 21.24}, {'connected_gene': 'ESAM', 'score': 15.22}, {'connected_gene': 'NRGN', 'score': 14.11}, {'connected_gene': 'ENSG00000255045', 'score': 12.22}, {'connected_gene': 'VSIG2', 'score': 12.19}, {'connected_gene': 'SIAE', 'score': 12.18}, {'connected_gene': 'LOC101929340', 'score': 12.17}, {'connected_gene': 'ROBO3', 'score': 9.39}, {'connected_gene': 'ROBO4', 'score': 1.67}, {'connected_gene': 'GC11P124740', 'score': 0.34}]
chr11	GH11I124670	124670651	124671494	0.62	[{'connected_gene': 'SPA17', 'score': 6.62}, {'connected_gene': 'SIAE', 'score': 0.34}, {'connected_gene': 'RNA5SP352', 'score': 0.29}]
chr11	GH11I124672	124672136	124674861	1.96	[{'connected_gene': 'SPA17', 'score': 566.31}, {'connected_gene': 'SIAE', 'score': 0.34}, {'connected_gene': 'RNA5SP352', 'score': 0.28}]
chr11	GH11I124669	124669245	124669394	0.76	[{'connected_gene': 'SPA17', 'score': 0.77}, {'connected_gene': 'SIAE', 'score': 0.31}, {'connected_gene': 'RNA5SP352', 'score': 0.29}]
chr11	GH11I124658	124657378	124657587	0.38	[{'connected_gene': 'SPA17', 'score': 0.37}, {'connected_gene': 'RNA5SP352', 'score': 0.34}, {'connected_gene': 'SIAE', 'score': 0.28}]
chr11	GH11I124657	124657001	124657200	0.38	[{'connected_gene': 'SPA17', 'score': 0.37}, {'connected_gene': 'RNA5SP352', 'score': 0.34}, {'connected_gene': 'SIAE', 'score': 0.28}]
chr11	GH11I124768	124768953	124772270	0.88	[{'connected_gene': 'NRGN', 'score': 12.52}, {'connected_gene': 'SIAE', 'score': 11.69}, {'connected_gene': 'SPA17', 'score': 11.65}, {'connected_gene': 'LOC100507283', 'score': 11.23}, {'connected_gene': 'MSANTD2', 'score': 11.21}, {'connected_gene': 'ROBO3', 'score': 10.13}, {'connected_gene': 'VSIG2', 'score': 5.88}, {'connected_gene': 'ESAM', 'score': 0.44}, {'connected_gene': 'ENSG00000254509', 'score': 0.34}]
chr11	GH11I124724	124724698	124726229	0.83	[{'connected_gene': 'NRGN', 'score': 11.83}, {'connected_gene': 'GC11P124740', 'score': 0.39}, {'connected_gene': 'SIAE', 'score': 0.31}]
chr11	GH11I124682	124682899	124683193	0.42	[{'connected_gene': 'OR8B4', 'score': 1.81}, {'connected_gene': 'MSANTD2', 'score': 1.44}, {'connected_gene': 'SPA17', 'score': 0.44}, {'connected_gene': 'SIAE', 'score': 0.39}]
chr11	GH11I124793	124793785	124793934	0.64	[{'connected_gene': 'ENSG00000279342', 'score': 550.77}, {'connected_gene': 'ESAM', 'score': 11.72}, {'connected_gene': 'LOC101929340', 'score': 11.72}, {'connected_gene': 'VSIG2', 'score': 11.68}, {'connected_gene': 'ENSG00000255045', 'score': 11.67}, {'connected_gene': 'SIAE', 'score': 11.44}, {'connected_gene': 'SPA17', 'score': 11.42}, {'connected_gene': 'NRGN', 'score': 10.61}, {'connected_gene': 'ROBO3', 'score': 9.96}, {'connected_gene': 'LOC100507283', 'score': 6.07}, {'connected_gene': 'MSANTD2', 'score': 0.44}]
chr11	GH11I124844	124843185	124843334	0.46	[{'connected_gene': 'GC11M124844', 'score': 550.77}, {'connected_gene': 'ROBO3', 'score': 12.05}, {'connected_gene': 'SIAE', 'score': 10.58}, {'connected_gene': 'SPA17', 'score': 10.57}, {'connected_gene': 'ENSG00000254943', 'score': 10.23}, {'connected_gene': 'NRGN', 'score': 10.21}, {'connected_gene': 'ROBO4', 'score': 10.04}, {'connected_gene': 'GC11M124812', 'score': 0.31}]
chr11	GH11I124843	124843508	124843627	0.43	[{'connected_gene': 'GC11M124844', 'score': 550.77}, {'connected_gene': 'ROBO3', 'score': 12.05}, {'connected_gene': 'SIAE', 'score': 10.58}, {'connected_gene': 'SPA17', 'score': 10.57}, {'connected_gene': 'ENSG00000254943', 'score': 10.23}, {'connected_gene': 'NRGN', 'score': 10.21}, {'connected_gene': 'ROBO4', 'score': 10.05}, {'connected_gene': 'GC11M124812', 'score': 0.31}]