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
ENST00000377710	[[17949555, 17949784], [17950443, 17951013], [17956326, 17956546], [17968808, 17968941], [17970581, 17971765]]	[[17950502, 17951013], [17956326, 17956546], [17968808, 17968941], [17970581, 17970752]]
ENST00000377709	[[17949715, 17949784], [17950443, 17950773], [17956326, 17956546], [17968808, 17968941], [17970581, 17971765]]	[[17950502, 17950773], [17956326, 17956546], [17968808, 17968941], [17970581, 17970752]]
ENST00000377704	[[17949757, 17949784], [17950443, 17951013], [17970581, 17971765]]	[[17950502, 17951013], [17970581, 17970829]]
ENST00000463219	[[17950673, 17950773], [17970581, 17971052]]	None
ENST00000467391	[[17950699, 17951013], [17968808, 17968941], [17970581, 17970874]]	None
NM_001310339	[[17949533, 17949784], [17950443, 17951013], [17970581, 17971765]]	[[17950502, 17951013], [17970581, 17970829]]
NM_052865	[[17949533, 17949784], [17950443, 17951013], [17956326, 17956546], [17968808, 17968941], [17970581, 17971765]]	[[17950502, 17951013], [17956326, 17956546], [17968808, 17968941], [17970581, 17970752]]
NM_001310338	[[17949533, 17949784], [17950443, 17951013], [17953349, 17953394], [17956326, 17956546], [17968808, 17968941], [17970581, 17971765]]	[[17950502, 17951013], [17953349, 17953394], [17956326, 17956546], [17968808, 17968941], [17970581, 17970752]]

Promoter

Chrom	Start	End	Description
chr20	17949544	17949604	CAGE_peak_2_at_C20orf72_5end
chr20	17949657	17949664	CAGE_peak_7_at_C20orf72_5end
chr20	17949684	17949716	CAGE_peak_3_at_C20orf72_5end
chr20	17949724	17949763	CAGE_peak_1_at_C20orf72_5end
chr20	17950183	17950217	CAGE_peak_6_at_C20orf72_5end
chr20	17950655	17950678	CAGE_peak_4_at_C20orf72_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr20	GH20I018030	18030932	18034474	0.75	[{'connected_gene': 'MGME1', 'score': 13.29}, {'connected_gene': 'ZNF133', 'score': 11.28}, {'connected_gene': 'ENSG00000229262', 'score': 11.28}, {'connected_gene': 'OVOL2', 'score': 11.28}, {'connected_gene': 'RBBP9', 'score': 9.92}, {'connected_gene': 'GC20P018011', 'score': 0.34}]
chr20	GH20I017984	17984607	17987208	0.94	[{'connected_gene': 'MGME1', 'score': 32.46}, {'connected_gene': 'SNORD17', 'score': 6.15}, {'connected_gene': 'SNX5', 'score': 5.34}, {'connected_gene': 'PIR51456', 'score': 0.44}, {'connected_gene': 'OVOL2', 'score': 0.19}]
chr20	GH20I017954	17954815	17974589	2.61	[{'connected_gene': 'MGME1', 'score': 585.95}, {'connected_gene': 'SNORD17', 'score': 573.21}, {'connected_gene': 'SNX5', 'score': 556.44}, {'connected_gene': 'PIR32960', 'score': 550.77}, {'connected_gene': 'GC20M017966', 'score': 550.77}, {'connected_gene': 'GC20M017968', 'score': 550.77}, {'connected_gene': 'LOC100286962', 'score': 20.25}, {'connected_gene': 'RRBP1', 'score': 10.12}, {'connected_gene': 'OVOL2', 'score': 0.16}]
chr20	GH20I017927	17927857	17930276	0.52	[{'connected_gene': 'MGME1', 'score': 25.59}, {'connected_gene': 'SNORD17', 'score': 6.94}, {'connected_gene': 'LOC105372549', 'score': 0.77}, {'connected_gene': 'GC20M017942', 'score': 0.39}, {'connected_gene': 'GC20M017941', 'score': 0.39}]
chr20	GH20I018007	18007201	18007682	0.43	[{'connected_gene': 'MGME1', 'score': 9.14}, {'connected_gene': 'PTMAP3', 'score': 0.77}, {'connected_gene': 'PIR51456', 'score': 0.37}, {'connected_gene': 'OVOL2', 'score': 0.23}]
chr20	GH20I017996	17996001	17996600	1.03	[{'connected_gene': 'MGME1', 'score': 22.51}, {'connected_gene': 'SNX5', 'score': 17.75}, {'connected_gene': 'SNORD17', 'score': 11.93}, {'connected_gene': 'RRBP1', 'score': 11.06}, {'connected_gene': 'OVOL2', 'score': 10.38}, {'connected_gene': 'ENSG00000229262', 'score': 10.38}, {'connected_gene': 'PIR51456', 'score': 0.77}, {'connected_gene': 'PTMAP3', 'score': 0.37}]
chr20	GH20I018003	18003500	18006410	0.87	[{'connected_gene': 'MGME1', 'score': 27.41}, {'connected_gene': 'SNX5', 'score': 16.62}, {'connected_gene': 'RRBP1', 'score': 10.61}, {'connected_gene': 'PTMAP3', 'score': 0.44}, {'connected_gene': 'PIR51456', 'score': 0.39}, {'connected_gene': 'OVOL2', 'score': 0.23}]
chr20	GH20I018000	18000936	18002226	0.82	[{'connected_gene': 'MGME1', 'score': 20.84}, {'connected_gene': 'SNX5', 'score': 11.77}, {'connected_gene': 'RRBP1', 'score': 10.61}, {'connected_gene': 'PIR51456', 'score': 0.44}, {'connected_gene': 'PTMAP3', 'score': 0.39}, {'connected_gene': 'OVOL2', 'score': 0.22}]
chr20	GH20I017935	17935855	17940856	1.41	[{'connected_gene': 'MGME1', 'score': 26.39}, {'connected_gene': 'LOC100286962', 'score': 12.32}, {'connected_gene': 'SNORD17', 'score': 5.85}, {'connected_gene': 'GC20M017942', 'score': 0.77}, {'connected_gene': 'GC20M017941', 'score': 0.77}, {'connected_gene': 'LOC105372549', 'score': 0.39}]
chr20	GH20I017858	17858468	17860694	1.79	[{'connected_gene': 'RRBP1', 'score': 12.52}, {'connected_gene': 'BANF2', 'score': 10.96}, {'connected_gene': 'SNX5', 'score': 1.48}, {'connected_gene': 'MGME1', 'score': 1.32}, {'connected_gene': 'GC20M017851', 'score': 0.44}, {'connected_gene': 'LOC105372548', 'score': 0.39}]
chr20	GH20I017992	17992473	17993848	0.69	[{'connected_gene': 'PIR51456', 'score': 550.77}, {'connected_gene': 'MGME1', 'score': 48.87}, {'connected_gene': 'SNORD17', 'score': 17.72}, {'connected_gene': 'SNX5', 'score': 17.62}, {'connected_gene': 'RRBP1', 'score': 11.06}, {'connected_gene': 'PTMAP3', 'score': 0.37}, {'connected_gene': 'OVOL2', 'score': 0.2}]
chr20	GH20I017991	17991866	17992228	0.59	[{'connected_gene': 'PIR51456', 'score': 550.77}, {'connected_gene': 'MGME1', 'score': 12.64}, {'connected_gene': 'SNX5', 'score': 12.64}, {'connected_gene': 'SNORD17', 'score': 11.95}, {'connected_gene': 'RRBP1', 'score': 11.06}, {'connected_gene': 'OVOL2', 'score': 0.2}]